#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
A2ML1	144568	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	9000255	9000255	+	Silent	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr12:9000255C>A	ENST00000299698.7	+	15	1974	c.1794C>A	c.(1792-1794)gtC>gtA	p.V598V	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Silent_p.V107V	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.V598V(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATGAGAGTGTCTTACTGCTTA	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											102.0	101.0	101.0					12																	9000255		1966	4158	6124	SO:0001819	synonymous_variant	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1794C>A	12.37:g.9000255C>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000299698.7	37	CCDS8596.2																																																																																				0.587	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3		NM_144670	
ABCA1	19	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	107651383	107651383	+	Splice_Site	SNP	A	A	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr9:107651383A>T	ENST00000374736.3	-	3	554	c.160T>A	c.(160-162)Tgc>Agc	p.C54S	ABCA1_ENST00000423487.2_Splice_Site_p.C54S|ABCA1_ENST00000374733.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	54					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.C54S(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGTTACTTACATTCATGTTGT	0.478																																																	1	Substitution - Missense(1)	kidney(1)											82.0	79.0	80.0					9																	107651383		2203	4300	6503	SO:0001630	splice_region_variant	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.160+1T>A	9.37:g.107651383A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	A	33	5.237967	0.95240	.	.	ENSG00000165029	ENST00000374736;ENST00000423487	D;D	0.99167	-5.51;-5.51	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.99290	0.9752	M	0.85945	2.785	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.99305	1.0902	9	.	.	.	.	16.5319	0.84362	1.0:0.0:0.0:0.0	.	54	O95477	ABCA1_HUMAN	S	54	ENSP00000363868:C54S;ENSP00000416623:C54S	.	C	-	1	0	ABCA1	106691204	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.267000	0.95665	2.295000	0.77249	0.523000	0.50628	TGC		0.478	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1		NM_005502	Missense_Mutation
ABCC11	85320	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	48256589	48256589	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr16:48256589T>A	ENST00000394747.1	-	5	1046	c.697A>T	c.(697-699)Agg>Tgg	p.R233W	ABCC11_ENST00000537808.1_Missense_Mutation_p.R233W|ABCC11_ENST00000394748.1_Missense_Mutation_p.R233W|ABCC11_ENST00000353782.5_Missense_Mutation_p.R233W|ABCC11_ENST00000356608.2_Missense_Mutation_p.R233W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	233	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.R233W(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GCTCGGAACCTGATGGCTGTG	0.493																																																	1	Substitution - Missense(1)	kidney(1)											123.0	113.0	116.0					16																	48256589		2201	4300	6501	SO:0001583	missense	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.697A>T	16.37:g.48256589T>A	ENSP00000378230:p.Arg233Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.298227	0.40694	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9	4.77	3.62	0.41486	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95220	0.8450	M	0.80422	2.495	0.20403	N	0.999907	D;P	0.89917	1.0;0.754	D;P	0.91635	0.999;0.615	D	0.88906	0.3356	10	0.87932	D	0	.	9.1046	0.36689	0.0:0.0:0.2563:0.7437	.	233;233	Q96J66-2;Q96J66	.;ABCCB_HUMAN	W	233	ENSP00000311326:R233W;ENSP00000349017:R233W;ENSP00000378231:R233W;ENSP00000378230:R233W;ENSP00000438530:R233W	ENSP00000311326:R233W	R	-	1	2	ABCC11	46814090	0.000000	0.05858	0.008000	0.14137	0.155000	0.21991	-0.078000	0.11375	0.590000	0.29694	0.460000	0.39030	AGG		0.493	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1		NM_032583	
ABHD1	84696	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27346840	27346840	+	Silent	SNP	C	C	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr2:27346840C>G	ENST00000316470.4	+	1	138	c.24C>G	c.(22-24)ccC>ccG	p.P8P		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	8						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.P8P(1)		endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTGAGCCCCCAGAATGGCA	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											134.0	112.0	120.0					2																	27346840		2203	4300	6503	SO:0001819	synonymous_variant	84696			AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"""Abhydrolase domain containing"""	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.24C>G	2.37:g.27346840C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Silent	SNP	ENST00000316470.4	37	CCDS1736.1																																																																																				0.637	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1		NM_032604	
ASIC3	9311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150748965	150748965	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr7:150748965C>T	ENST00000349064.5	+	7	1481	c.1283C>T	c.(1282-1284)gCc>gTc	p.A428V	ASIC3_ENST00000357922.4_Missense_Mutation_p.A428V|ASIC3_ENST00000297512.8_Missense_Mutation_p.A428V	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	428					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)	p.A428V(2)									CAGAAGAAGGCCTATGAGATG	0.592																																																	2	Substitution - Missense(2)	kidney(2)											112.0	101.0	104.0					7																	150748965		2203	4300	6503	SO:0001583	missense	0			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.1283C>T	7.37:g.150748965C>T	ENSP00000344838:p.Ala428Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	CCDS5916.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	29.3|29.3	4.996635|4.996635	0.93167|0.93167	.|.	.|.	ENSG00000213199|ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512;ENST00000490540|ENST00000485929	T;T;T;T|.	0.67171|.	-0.25;-0.25;-0.25;-0.25|.	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	0.000000|.	0.37857|.	U|.	0.001905|.	T|T	0.73434|0.73434	0.3586|0.3586	M|M	0.67397|0.67397	2.05|2.05	0.51767|0.51767	D|D	0.999932|0.999932	D;D;D|.	0.89917|.	0.985;1.0;0.999|.	D;D;D|.	0.83275|.	0.945;0.994;0.996|.	T|T	0.77419|0.77419	-0.2595|-0.2595	10|6	0.72032|0.87932	D|D	0.01|0	-17.16|-17.16	15.1448|15.1448	0.72641|0.72641	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	428;428;428|.	Q9UHC3-2;Q9UHC3-3;Q9UHC3|.	.;.;ACCN3_HUMAN|.	V|S	428;428;428;59|54	ENSP00000350600:A428V;ENSP00000344838:A428V;ENSP00000297512:A428V;ENSP00000418361:A59V|.	ENSP00000297512:A428V|ENSP00000367136:P379S	A|P	+|+	2|1	0|0	ACCN3|ACCN3	150379898|150379898	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.707000|0.707000	0.40811|0.40811	4.847000|4.847000	0.62867|0.62867	2.147000|2.147000	0.66899|0.66899	0.586000|0.586000	0.80456|0.80456	GCC|CCT		0.592	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1		NM_004769	
ACVR1B	91	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52374824	52374824	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr12:52374824T>A	ENST00000257963.4	+	4	729	c.652T>A	c.(652-654)Ttt>Att	p.F218I	ACVR1B_ENST00000415850.2_Missense_Mutation_p.F218I|ACVR1B_ENST00000541224.1_Missense_Mutation_p.F218I|ACVR1B_ENST00000426655.2_Missense_Mutation_p.F218I|ACVR1B_ENST00000542485.1_Missense_Mutation_p.F166I	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	218	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)	p.F218I(2)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CAAGGGTCGGTTTGGGGAAGT	0.507											OREG0021829	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Missense(2)	kidney(2)											71.0	73.0	72.0					12																	52374824		2203	4300	6503	SO:0001583	missense	91				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.652T>A	12.37:g.52374824T>A	ENSP00000257963:p.Phe218Ile	Somatic	984	WXS	Illumina HiSeq	Phase_I	B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	T	34	5.354863	0.95854	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67;-3.67	5.12	5.12	0.69794	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97929	0.9319	H	0.94620	3.56	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.995;0.997	D;D;P;D	0.74674	0.984;0.963;0.865;0.943	D	0.99218	1.0878	10	0.87932	D	0	.	15.2561	0.73585	0.0:0.0:0.0:1.0	.	218;218;218;218	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	I	218;218;218;218;166	ENSP00000257963:F218I;ENSP00000442656:F218I;ENSP00000390477:F218I;ENSP00000397550:F218I;ENSP00000442885:F166I	ENSP00000257963:F218I	F	+	1	0	ACVR1B	50661091	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	8.040000	0.89188	2.074000	0.62210	0.528000	0.53228	TTT		0.507	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1		NM_020328	
AFF4	27125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	132228042	132228042	+	Silent	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr5:132228042C>T	ENST00000265343.5	-	13	2830	c.2451G>A	c.(2449-2451)ggG>ggA	p.G817G	AFF4_ENST00000378595.3_Silent_p.G817G	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	817					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G817G(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGGAACAGGCCCAGCGGGAG	0.448																																					Ovarian(126;889 1733 2942 10745 11605)												1	Substitution - coding silent(1)	kidney(1)											112.0	114.0	114.0					5																	132228042		2203	4300	6503	SO:0001819	synonymous_variant	27125			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2451G>A	5.37:g.132228042C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Silent	SNP	ENST00000265343.5	37	CCDS4164.1																																																																																				0.448	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1		NM_014423	
AHNAK2	113146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	105416511	105416511	+	Silent	SNP	G	G	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr14:105416511G>C	ENST00000333244.5	-	7	5396	c.5277C>G	c.(5275-5277)ccC>ccG	p.P1759P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1759						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.P1759P(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGTCCATCTGGGGGCCCTTGA	0.667																																																	1	Substitution - coding silent(1)	kidney(1)											93.0	106.0	102.0					14																	105416511		1817	4038	5855	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5277C>G	14.37:g.105416511G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.667	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420	
ALPK3	57538	broad.mit.edu;ucsc.edu	37	15	85360311	85360311	+	Silent	SNP	G	G	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr15:85360311G>T	ENST00000258888.5	+	1	401	c.234G>T	c.(232-234)ggG>ggT	p.G78G		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	78					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G78G(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGGGTCCCGGGAGCTCCACGA	0.726																																																	2	Substitution - coding silent(2)	kidney(2)											7.0	9.0	8.0					15																	85360311		2141	4223	6364	SO:0001819	synonymous_variant	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.234G>T	15.37:g.85360311G>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q9P2L6	Silent	SNP	ENST00000258888.5	37	CCDS10333.1																																																																																				0.726	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1		NM_020778	
ANK1	286	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	41552240	41552240	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr8:41552240A>C	ENST00000347528.4	-	28	3280	c.3197T>G	c.(3196-3198)aTg>aGg	p.M1066R	ANK1_ENST00000265709.8_Missense_Mutation_p.M1107R|ANK1_ENST00000379758.2_Missense_Mutation_p.M1066R|ANK1_ENST00000289734.7_Missense_Mutation_p.M1066R|ANK1_ENST00000396942.1_Missense_Mutation_p.M1066R|ANK1_ENST00000352337.4_Missense_Mutation_p.M1066R|ANK1_ENST00000396945.1_Missense_Mutation_p.M1066R	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1066	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.M1066R(1)|p.M1107R(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAGCCGTGACATGATCACGAA	0.597																																																	2	Substitution - Missense(2)	kidney(2)											173.0	138.0	150.0					8																	41552240		2203	4300	6503	SO:0001583	missense	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.3197T>G	8.37:g.41552240A>C	ENSP00000339620:p.Met1066Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.45|18.45	3.627692|3.627692	0.66901|0.66901	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.|T;T;T;T;T;T;T	.|0.64803	.|-0.12;-0.12;-0.1;-0.08;-0.1;-0.09;-0.12	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.047589	.|0.85682	.|D	.|0.000000	T|T	0.67608|0.67608	0.2911|0.2911	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|D;D;D;D;P;D	.|0.69078	.|0.971;0.995;0.992;0.995;0.95;0.997	.|D;D;D;D;D;D	.|0.73708	.|0.922;0.948;0.922;0.91;0.922;0.981	T|T	0.72782|0.72782	-0.4189|-0.4189	5|10	.|0.87932	.|D	.|0	.|.	15.1014|15.1014	0.72279|0.72279	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1107;1066;1066;1066;1066;382	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	Q|R	387|1066;1066;1066;1066;1066;1066;1107;1066	.|ENSP00000339620:M1066R;ENSP00000289734:M1066R;ENSP00000369082:M1066R;ENSP00000380149:M1066R;ENSP00000380147:M1066R;ENSP00000309131:M1066R;ENSP00000265709:M1107R	.|ENSP00000265709:M1107R	H|M	-|-	3|2	2|0	ANK1|ANK1	41671397|41671397	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.416000|0.416000	0.31233|0.31233	7.445000|7.445000	0.80570|0.80570	2.020000|2.020000	0.59435|0.59435	0.379000|0.379000	0.24179|0.24179	CAT|ATG		0.597	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1		NM_020475	
ANKRD26	22852	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	27301965	27301967	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	GTG	GTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr10:27301965_27301967delGTG	ENST00000376087.4	-	32	4962_4964	c.4797_4799delCAC	c.(4795-4800)accact>act	p.1599_1600TT>T	ANKRD26_ENST00000376070.3_In_Frame_Del_p.1156_1157TT>T|ANKRD26_ENST00000436985.2_In_Frame_Del_p.1615_1616TT>T	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1598					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GGTAGTGAGAGTGGTGAACAAAG	0.414																																																	0																																										SO:0001651	inframe_deletion	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4797_4799delCAC	10.37:g.27301968_27301970delGTG	ENSP00000365255:p.Thr1600del	Somatic		WXS	Illumina HiSeq	Phase_I	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	In_Frame_Del	DEL	ENST00000376087.4	37	CCDS41499.1																																																																																				0.414	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			
ASXL3	80816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	31311969	31311969	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr18:31311969C>G	ENST00000269197.5	+	9	917	c.917C>G	c.(916-918)gCt>gGt	p.A306G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	306					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.A13G(1)|p.A306G(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGTACTTCAGCTCTAAATAAT	0.373																																																	2	Substitution - Missense(2)	kidney(2)											136.0	127.0	130.0					18																	31311969		1882	4107	5989	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.917C>G	18.37:g.31311969C>G	ENSP00000269197:p.Ala306Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228461	0.95173	.	.	ENSG00000141431	ENST00000269197	T	0.34472	1.36	6.04	6.04	0.98038	.	0.305920	0.31542	N	0.007473	T	0.59335	0.2186	L	0.55213	1.73	0.54753	D	0.999984	D	0.89917	1.0	D	0.87578	0.998	T	0.55451	-0.8139	10	0.59425	D	0.04	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	306	Q9C0F0	ASXL3_HUMAN	G	306	ENSP00000269197:A306G	ENSP00000269197:A306G	A	+	2	0	ASXL3	29565967	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.109000	0.77062	2.873000	0.98535	0.563000	0.77884	GCT		0.373	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			
BPTF	2186	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	65909128	65909128	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr17:65909128A>T	ENST00000321892.4	+	13	5567	c.5506A>T	c.(5506-5508)Aaa>Taa	p.K1836*	BPTF_ENST00000424123.3_Nonsense_Mutation_p.K1697*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.K1836*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.K1710*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1836					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.K1710*(1)|p.K1836*(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATCCTATAGAAAATTTGTTAC	0.403																																																	2	Substitution - Nonsense(2)	kidney(2)											79.0	77.0	78.0					17																	65909128		2203	4300	6503	SO:0001587	stop_gained	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5506A>T	17.37:g.65909128A>T	ENSP00000315454:p.Lys1836*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	A	45	11.517457	0.99570	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3491	16.2002	0.82067	1.0:0.0:0.0:0.0	.	.	.	.	X	1710;1836;1836	.	ENSP00000307208:K1710X	K	+	1	0	BPTF	63339590	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.285000	0.76669	0.528000	0.53228	AAA		0.403	BPTF-201	KNOWN	basic	protein_coding	protein_coding			NM_182641, NM_004459	
MB21D2	151963	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	192516184	192516184	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr3:192516184T>A	ENST00000392452.2	-	2	1787	c.1467A>T	c.(1465-1467)aaA>aaT	p.K489N		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	489							protein complex binding (GO:0032403)	p.K487N(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						CTCAGAAAAATTTGTCATCAA	0.378																																																	1	Substitution - Missense(1)	kidney(1)											75.0	79.0	78.0					3																	192516184		2203	4300	6503	SO:0001583	missense	0			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.1467A>T	3.37:g.192516184T>A	ENSP00000376246:p.Lys489Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	T	15.73	2.919444	0.52653	.	.	ENSG00000180611	ENST00000392452	T	0.61742	0.08	5.62	1.93	0.25924	.	0.045994	0.85682	D	0.000000	T	0.61236	0.2331	L	0.36672	1.1	0.54753	D	0.999984	D	0.57899	0.981	D	0.67231	0.95	T	0.60454	-0.7260	10	0.87932	D	0	-0.3117	8.3704	0.32412	0.0:0.2952:0.0:0.7048	.	489	Q8IYB1	M21D2_HUMAN	N	489	ENSP00000376246:K489N	ENSP00000376246:K489N	K	-	3	2	MB21D2	193998878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.830000	0.39131	0.426000	0.26116	0.528000	0.53228	AAA		0.378	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1		NM_178496	
C5orf22	55322	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	31538683	31538683	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr5:31538683G>T	ENST00000325366.9	+	4	821	c.694G>T	c.(694-696)Gct>Tct	p.A232S	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	232								p.A232S(1)		kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						ATGCCAGACTGCTGCCAGCAC	0.408																																																	1	Substitution - Missense(1)	kidney(1)											53.0	52.0	52.0					5																	31538683		2203	4300	6503	SO:0001583	missense	55322			AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.694G>T	5.37:g.31538683G>T	ENSP00000326879:p.Ala232Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	ENST00000325366.9	37	CCDS3895.1	.	.	.	.	.	.	.	.	.	.	G	0.052	-1.246656	0.01481	.	.	ENSG00000082213	ENST00000325366	T	0.28895	1.59	5.99	-2.43	0.06522	.	0.536090	0.22619	N	0.057723	T	0.09379	0.0231	N	0.04203	-0.255	0.09310	N	0.999998	B	0.06786	0.001	B	0.11329	0.006	T	0.34875	-0.9811	10	0.07175	T	0.84	-0.3239	6.6926	0.23181	0.499:0.0:0.3858:0.1151	.	232	Q49AR2	CE022_HUMAN	S	232	ENSP00000326879:A232S	ENSP00000326879:A232S	A	+	1	0	C5orf22	31574440	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.314000	0.08092	-0.324000	0.08589	-0.290000	0.09829	GCT		0.408	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2		NM_018356	
CFAP69	79846	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	89937153	89937153	+	Silent	SNP	C	C	T	rs558288448		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr7:89937153C>T	ENST00000389297.4	+	21	2786	c.2535C>T	c.(2533-2535)aaC>aaT	p.N845N	C7orf63_ENST00000316089.8_Silent_p.N799N|C7orf63_ENST00000497910.1_Silent_p.N827N	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		845								p.N799N(1)|p.N845N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GAACATCAAACGCTAAAACGT	0.343																																																	2	Substitution - coding silent(2)	kidney(2)											65.0	64.0	65.0					7																	89937153		1840	4093	5933	SO:0001819	synonymous_variant	79846																														ENST00000389297.4:c.2535C>T	7.37:g.89937153C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Silent	SNP	ENST00000389297.4	37	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	C	7.421	0.636675	0.14386	.	.	ENSG00000105792	ENST00000412839;ENST00000445156	.	.	.	5.17	2.82	0.32997	.	.	.	.	.	T	0.54013	0.1832	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47209	-0.9135	4	.	.	.	-21.6192	5.6758	0.17747	0.0:0.3563:0.0:0.6437	.	.	.	.	C	74;32	.	.	R	+	1	0	C7orf63	89775089	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	0.710000	0.25748	0.797000	0.33971	-0.295000	0.09555	CGC		0.343	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			
RABL6	55684	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139722995	139722995	+	Silent	SNP	G	G	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr9:139722995G>A	ENST00000311502.7	+	4	599	c.363G>A	c.(361-363)caG>caA	p.Q121Q	MIR4292_ENST00000585012.1_RNA|RABL6_ENST00000371671.4_Silent_p.Q121Q|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000371675.3_Silent_p.Q6Q|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000432842.2_Silent_p.Q83Q|RABL6_ENST00000357466.2_Silent_p.Q121Q|RABL6_ENST00000371663.4_Silent_p.Q121Q			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	121	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.Q199Q(1)|p.Q121Q(1)									ACGACCCCCAGGAGGTGAGTG	0.572																																																	2	Substitution - coding silent(2)	kidney(2)											68.0	80.0	76.0					9																	139722995		1973	4150	6123	SO:0001819	synonymous_variant	0			AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.363G>A	9.37:g.139722995G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Silent	SNP	ENST00000311502.7	37	CCDS48058.1	.	.	.	.	.	.	.	.	.	.	G	9.985	1.229159	0.22542	.	.	ENSG00000196642	ENST00000436380;ENST00000425121	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	T	0.69913	0.3164	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69548	-0.5116	4	.	.	.	-31.1383	14.1845	0.65595	0.0:0.0:1.0:0.0	.	.	.	.	R	78;32	.	.	G	+	1	0	C9orf86	138842816	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.750000	0.38329	2.103000	0.63969	0.561000	0.74099	GGA		0.572	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4		NM_024718	
CARD17	440068	hgsc.bcm.edu;ucsc.edu	37	11	104971490	104971490	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr11:104971490delC	ENST00000375707.1	-	2	40	c.24delG	c.(22-24)gagfs	p.E8fs	CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000593315.1_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	8	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						GCTTTCTCTTCTCCTTCAGGA	0.448																																																	0													206.0	193.0	198.0					11																	104971490		2202	4299	6501	SO:0001589	frameshift_variant	440068				CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"""Inhibitory CARD"""	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.24delG	11.37:g.104971490delC	ENSP00000364859:p.Glu8fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000375707.1	37	CCDS31662.1																																																																																				0.448	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1		NM_001007232	
CCDC77	84318	broad.mit.edu;ucsc.edu	37	12	518533	518533	+	Splice_Site	DEL	G	G	-			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr12:518533delG	ENST00000239830.4	+	3	163		c.e3-1		CCDC77_ENST00000412006.2_Intron|CCDC77_ENST00000540180.1_Intron|CCDC77_ENST00000540344.1_Intron|CCDC77_ENST00000422000.1_Intron	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77							centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			GTATTTGATAGGTGTGAAAAA	0.358																																																	0													139.0	131.0	134.0					12																	518533		2201	4300	6501	SO:0001630	splice_region_variant	84318			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.-16-1G>-	12.37:g.518533delG		Somatic		WXS	Illumina GAIIx	Phase_I	B4DDE8	Splice_Site	DEL	ENST00000239830.4	37	CCDS8503.1																																																																																				0.358	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1		NM_032358	Intron
CCDC88B	283234	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64111946	64111946	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr11:64111946G>T	ENST00000356786.5	+	14	1977	c.1933G>T	c.(1933-1935)Ggc>Tgc	p.G645C	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	645						membrane (GO:0016020)		p.G645C(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGACAGGAGGGCCCTGAGCA	0.652																																																	1	Substitution - Missense(1)	kidney(1)											23.0	28.0	26.0					11																	64111946		2196	4297	6493	SO:0001583	missense	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1933G>T	11.37:g.64111946G>T	ENSP00000349238:p.Gly645Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	16.52	3.145377	0.57044	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.22743	1.94	3.72	2.77	0.32553	.	.	.	.	.	T	0.15089	0.0364	N	0.19112	0.55	0.80722	D	1	P;B;P	0.45283	0.855;0.008;0.855	B;B;B	0.44163	0.443;0.015;0.443	T	0.03403	-1.1040	9	0.51188	T	0.08	.	8.8638	0.35274	0.1234:0.0:0.8766:0.0	.	645;294;645	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	C	645	ENSP00000349238:G645C	ENSP00000349238:G645C	G	+	1	0	CCDC88B	63868522	0.585000	0.26774	0.138000	0.22173	0.283000	0.27025	1.153000	0.31676	0.828000	0.34709	0.299000	0.19835	GGC		0.652	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1		NM_032251	
CD38	952	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	15818217	15818217	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr4:15818217A>G	ENST00000226279.3	+	2	454	c.317A>G	c.(316-318)tAt>tGt	p.Y106C		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	106					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)	p.Y106C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GAAGAAGACTATCAGCCACTA	0.408																																																	1	Substitution - Missense(1)	kidney(1)											100.0	94.0	96.0					4																	15818217		2203	4300	6503	SO:0001583	missense	952			D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.317A>G	4.37:g.15818217A>G	ENSP00000226279:p.Tyr106Cys	Somatic		WXS	Illumina HiSeq	Phase_I	O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273788	0.59649	.	.	ENSG00000004468	ENST00000226279;ENST00000540195	T	0.37235	1.21	5.57	5.57	0.84162	.	0.063699	0.64402	D	0.000004	T	0.64638	0.2616	M	0.87180	2.865	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71381	-0.4610	10	0.87932	D	0	-35.1676	13.2605	0.60102	1.0:0.0:0.0:0.0	.	106;106	P28907;B2R880	CD38_HUMAN;.	C	106	ENSP00000226279:Y106C	ENSP00000226279:Y106C	Y	+	2	0	CD38	15427315	0.998000	0.40836	0.917000	0.36280	0.608000	0.37181	5.084000	0.64462	2.120000	0.65058	0.460000	0.39030	TAT		0.408	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2		NM_001775	
CDCA2	157313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	25325823	25325823	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr8:25325823C>A	ENST00000330560.3	+	6	1106	c.629C>A	c.(628-630)tCt>tAt	p.S210Y	CDCA2_ENST00000380665.3_Missense_Mutation_p.S195Y	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	210					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S210Y(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CAGAGAGACTCTGATGAAAAT	0.443																																																	1	Substitution - Missense(1)	kidney(1)											95.0	96.0	96.0					8																	25325823		2203	4300	6503	SO:0001583	missense	157313			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.629C>A	8.37:g.25325823C>A	ENSP00000328228:p.Ser210Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	C	1.384	-0.582517	0.03827	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.35236	1.32;1.32	5.06	-1.65	0.08291	.	1.455170	0.03867	N	0.274940	T	0.28732	0.0712	L	0.51422	1.61	0.09310	N	1	B;B;B	0.21452	0.037;0.056;0.056	B;B;B	0.26864	0.018;0.074;0.074	T	0.13683	-1.0500	10	0.24483	T	0.36	1.0798	0.9882	0.01451	0.1548:0.3207:0.1514:0.373	.	210;195;210	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	Y	210;195	ENSP00000328228:S210Y;ENSP00000370040:S195Y	ENSP00000328228:S210Y	S	+	2	0	CDCA2	25381740	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	-0.271000	0.08572	-0.178000	0.10672	-0.291000	0.09656	TCT		0.443	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3		NM_152562	
CDH2	1000	hgsc.bcm.edu	37	18	25570227	25570228	+	Frame_Shift_Ins	INS	-	-	C	rs1628684	byFrequency	TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr18:25570227_25570228insC	ENST00000269141.3	-	10	1854_1855	c.1431_1432insG	c.(1429-1434)ccccctfs	p.P478fs	CDH2_ENST00000399380.3_Frame_Shift_Ins_p.P447fs	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	478	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTTGACTGAGGGGGGTGCTGAA	0.426																																																	0										71,4193		0,71,2061						6.2	1.0			92	51,8203		0,51,4076	no	frameshift	CDH2	NM_001792.3		0,122,6137	A1A1,A1R,RR		0.6179,1.6651,0.9746				122,12396				SO:0001589	frameshift_variant	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1431_1432insG	18.37:g.25570227_25570228insC	ENSP00000269141:p.Pro478fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8MWK3|B0YIY6|Q14923|Q8N173	Frame_Shift_Ins	INS	ENST00000269141.3	37	CCDS11891.1																																																																																				0.426	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3		NM_001792	
CELF4	56853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	34833794	34833794	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr18:34833794C>G	ENST00000591282.1	-	12	1440	c.1441G>C	c.(1441-1443)Gac>Cac	p.D481H	CELF4_ENST00000590011.1_5'UTR|CELF4_ENST00000603232.1_Missense_Mutation_p.D480H|CELF4_ENST00000361795.5_Missense_Mutation_p.D479H|CELF4_ENST00000591287.1_Missense_Mutation_p.D479H|CELF4_ENST00000412753.1_Missense_Mutation_p.D480H|CELF4_ENST00000601019.1_Missense_Mutation_p.D479H|CELF4_ENST00000420428.2_Missense_Mutation_p.D481H|CELF4_ENST00000334919.5_Missense_Mutation_p.D443H			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	481					alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.D481H(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CGATTGGCGTCTTTGGGCCGC	0.701																																																	1	Substitution - Missense(1)	kidney(1)											59.0	58.0	58.0					18																	34833794		2203	4300	6503	SO:0001583	missense	56853			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1441G>C	18.37:g.34833794C>G	ENSP00000464794:p.Asp481His	Somatic		WXS	Illumina HiSeq	Phase_I	Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	C	31	5.083021	0.94050	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T	0.07114	3.22;3.22	4.11	4.11	0.48088	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.20007	0.0481	L	0.37507	1.11	0.80722	D	1	D;D;D;D	0.89917	0.996;0.998;0.99;1.0	D;D;D;D	0.71184	0.952;0.957;0.947;0.972	T	0.02121	-1.1210	10	0.87932	D	0	-11.2026	16.6199	0.84927	0.0:1.0:0.0:0.0	.	479;443;479;481	Q9BZC1-3;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;CELF4_HUMAN	H	481;480;479;443	ENSP00000406823:D480H;ENSP00000335631:D443H	ENSP00000335631:D443H	D	-	1	0	CELF4	33087792	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.635000	0.67841	2.137000	0.66172	0.473000	0.43528	GAC		0.701	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1		NM_020180	
CHD7	55636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	61761689	61761689	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr8:61761689C>A	ENST00000423902.2	+	25	5859	c.5380C>A	c.(5380-5382)Ctc>Atc	p.L1794I	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1794					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.L1794I(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGACAAATCCCTCTTAATTGG	0.393																																																	2	Substitution - Missense(2)	kidney(2)											201.0	197.0	198.0					8																	61761689		1893	4121	6014	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5380C>A	8.37:g.61761689C>A	ENSP00000392028:p.Leu1794Ile	Somatic		WXS	Illumina HiSeq	Phase_I	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134087	0.77662	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.95069	-3.6	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000004	D	0.97570	0.9204	M	0.86651	2.83	0.80722	D	1	D	0.59767	0.986	D	0.65323	0.934	D	0.97744	1.0210	10	0.87932	D	0	-13.4799	20.2227	0.98327	0.0:1.0:0.0:0.0	.	1794	Q9P2D1	CHD7_HUMAN	I	1794	ENSP00000392028:L1794I	ENSP00000307304:L1794I	L	+	1	0	CHD7	61924243	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.778000	0.95560	0.650000	0.86243	CTC		0.393	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762	
C19orf44	84167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	16634081	16634081	+	IGR	SNP	G	G	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr19:16634081G>T	ENST00000221671.3	+	0	3427				CHERP_ENST00000546361.2_Missense_Mutation_p.H588N|CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.H599N	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44									p.H588N(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGGCCAGGGTGGTGGTGAGGG	0.652																																																	1	Substitution - Missense(1)	kidney(1)											46.0	57.0	54.0					19																	16634081		2074	4217	6291	SO:0001628	intergenic_variant	10523			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5			19.37:g.16634081G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491607	0.64074	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.22945	1.93;1.94	5.09	5.09	0.68999	.	.	.	.	.	T	0.34193	0.0889	L	0.47716	1.5	0.54753	D	0.999983	D	0.53885	0.963	P	0.53006	0.715	T	0.03043	-1.1079	9	0.13853	T	0.58	-30.9534	17.4823	0.87675	0.0:0.0:1.0:0.0	.	588	Q8IWX8	CHERP_HUMAN	N	588;599	ENSP00000439856:H588N;ENSP00000198939:H599N	ENSP00000198939:H599N	H	-	1	0	CHERP	16495081	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.022000	0.93678	2.377000	0.81083	0.561000	0.74099	CAC		0.652	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1		NM_032207	
COL6A3	1293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	238267874	238267874	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr2:238267874C>G	ENST00000295550.4	-	19	6781	c.6329G>C	c.(6328-6330)gGa>gCa	p.G2110A	COL6A3_ENST00000346358.4_Missense_Mutation_p.G1910A|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1503A|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1904A|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1904A|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1909A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2110	Collagen-like 2.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G2110A(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCATCCAGTCCAATTTCTCC	0.408																																																	1	Substitution - Missense(1)	kidney(1)											95.0	96.0	96.0					2																	238267874		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6329G>C	2.37:g.238267874C>G	ENSP00000295550:p.Gly2110Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	9.281	1.048185	0.19827	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.99607	-6.27;-5.75;-4.81;-4.81;-4.81;-5.75	5.14	5.14	0.70334	.	0.000000	0.49305	D	0.000142	D	0.99796	0.9913	H	0.97051	3.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.96873	0.9641	10	0.87932	D	0	.	18.626	0.91338	0.0:1.0:0.0:0.0	.	1503;1904;2110	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	A	2110;1909;1904;1503;1904;1910	ENSP00000295550:G2110A;ENSP00000315609:G1909A;ENSP00000315873:G1904A;ENSP00000418285:G1503A;ENSP00000386844:G1904A;ENSP00000295546:G1910A	ENSP00000295550:G2110A	G	-	2	0	COL6A3	237932613	1.000000	0.71417	0.462000	0.27118	0.108000	0.19459	7.060000	0.76692	2.398000	0.81561	0.655000	0.94253	GGA		0.408	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369	
DGAT1	8694	broad.mit.edu;hgsc.bcm.edu	37	8	145540325	145540325	+	Silent	SNP	G	G	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr8:145540325G>C	ENST00000332324.4	-	17	1632	c.1359C>G	c.(1357-1359)ggC>ggG	p.G453G	GS1-393G12.12_ENST00000525023.1_RNA|DGAT1_ENST00000527438.1_5'UTR	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	453					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)	p.G453G(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CAGCTGCGTTGCCATAGTTGC	0.612																																																	1	Substitution - coding silent(1)	kidney(1)											52.0	42.0	45.0					8																	145540325		2196	4295	6491	SO:0001819	synonymous_variant	8694			AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.1359C>G	8.37:g.145540325G>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2RWQ2|D3DWL6|Q96BB8	Silent	SNP	ENST00000332324.4	37	CCDS6420.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.796115	0.31777	.	.	ENSG00000185000	ENST00000526479	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	T	0.64338	0.2589	.	.	.	0.80722	D	1	P	0.49090	0.919	P	0.50082	0.63	T	0.69680	-0.5080	7	0.72032	D	0.01	-30.3282	14.8306	0.70146	0.0:0.0:1.0:0.0	.	288	E9PS80	.	E	288	.	ENSP00000435883:Q288E	Q	-	1	0	DGAT1	145511133	0.999000	0.42202	1.000000	0.80357	0.692000	0.40212	0.259000	0.18405	2.368000	0.80403	0.561000	0.74099	CAA		0.612	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3		NM_012079	
DNAH7	56171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	196753118	196753118	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr2:196753118A>T	ENST00000312428.6	-	33	5370	c.5270T>A	c.(5269-5271)tTa>tAa	p.L1757*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1757	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.L1757*(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTCCAGCCTAACATGTGAGG	0.393																																																	1	Substitution - Nonsense(1)	kidney(1)											56.0	51.0	53.0					2																	196753118		1901	4121	6022	SO:0001587	stop_gained	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5270T>A	2.37:g.196753118A>T	ENSP00000311273:p.Leu1757*	Somatic		WXS	Illumina HiSeq	Phase_I	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	47	13.012527	0.99713	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9736	0.80040	1.0:0.0:0.0:0.0	.	.	.	.	X	1757	.	ENSP00000311273:L1757X	L	-	2	0	DNAH7	196461363	1.000000	0.71417	0.892000	0.35008	0.986000	0.74619	9.135000	0.94478	2.308000	0.77769	0.533000	0.62120	TTA		0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3		NM_018897	
DNMT3B	1789	hgsc.bcm.edu;ucsc.edu	37	20	31386266	31386266	+	Splice_Site	SNP	G	G	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr20:31386266G>T	ENST00000328111.2	+	15	1812	c.1491G>T	c.(1489-1491)cgG>cgT	p.R497R	DNMT3B_ENST00000456297.2_Splice_Site_p.R401R|DNMT3B_ENST00000344505.4_Splice_Site_p.R477R|DNMT3B_ENST00000348286.2_Splice_Site_p.R477R|DNMT3B_ENST00000353855.2_Splice_Site_p.R477R|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000201963.3_Splice_Site_p.R489R|DNMT3B_ENST00000443239.3_Splice_Site_p.R435R	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	497	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.R489R(1)|p.R497R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGGTCCAGGTGTTTCTGTG	0.612																																																	2	Substitution - coding silent(2)	kidney(2)											40.0	43.0	42.0					20																	31386266		2203	4300	6503	SO:0001630	splice_region_variant	1789				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1491-1G>T	20.37:g.31386266G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	ENST00000328111.2	37	CCDS13205.1																																																																																				0.612	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2		NM_006892	Silent
DOCK7	85440	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	63021612	63021612	+	Missense_Mutation	SNP	C	C	T	rs78144896		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr1:63021612C>T	ENST00000340370.5	-	21	2497	c.2480G>A	c.(2479-2481)cGa>cAa	p.R827Q	DOCK7_ENST00000251157.5_Missense_Mutation_p.R827Q	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	827					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.R827Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTTGTGAAGTCGATTTATAAT	0.348																																																	1	Substitution - Missense(1)	kidney(1)											176.0	170.0	172.0					1																	63021612		2203	4300	6503	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.2480G>A	1.37:g.63021612C>T	ENSP00000340742:p.Arg827Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582463	0.46006	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.32753	1.44;1.44	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.17365	0.0417	N	0.04636	-0.2	0.80722	D	1	B;B;B;B;B	0.20550	0.037;0.022;0.037;0.041;0.046	B;B;B;B;B	0.18263	0.021;0.006;0.004;0.006;0.013	T	0.11299	-1.0593	10	0.17369	T	0.5	.	19.4782	0.94998	0.0:1.0:0.0:0.0	.	827;827;827;827;827	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.;.;.;.;.	Q	827	ENSP00000251157:R827Q;ENSP00000340742:R827Q	ENSP00000251157:R827Q	R	-	2	0	DOCK7	62794200	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.651000	0.83577	2.838000	0.97847	0.655000	0.94253	CGA		0.348	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1		NM_033407	
DUS2	54920	hgsc.bcm.edu;ucsc.edu	37	16	68112666	68112666	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr16:68112666A>C	ENST00000565263.1	+	17	1753	c.1259A>C	c.(1258-1260)aAa>aCa	p.K420T	DUS2_ENST00000358896.6_Missense_Mutation_p.K420T|RP11-67A1.2_ENST00000548144.1_RNA|DUS2_ENST00000432752.1_Missense_Mutation_p.K385T	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	420	DRBM.				negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										AAGTCCAAGAAACTGGCGGAG	0.602																																																	0													25.0	28.0	27.0					16																	68112666		2188	4285	6473	SO:0001583	missense	54920				CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"""SMM1 homolog (S. cerevisiae)"""	609707	"""dihydrouridine synthase 2-like (SMM1, S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like"""	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.1259A>C	16.37:g.68112666A>C	ENSP00000455229:p.Lys420Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3G3|Q4H4D9	Missense_Mutation	SNP	ENST00000565263.1	37	CCDS10859.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.739817	0.89573	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	D;D	0.86562	-2.14;-2.14	5.39	5.39	0.77823	Double-stranded RNA-binding (2);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.95281	0.8469	H	0.95712	3.71	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.994	D	0.96430	0.9318	10	0.87932	D	0	-22.9279	13.6682	0.62409	1.0:0.0:0.0:0.0	.	385;420	E7EUN9;Q9NX74	.;DUS2L_HUMAN	T	420;385	ENSP00000351769:K420T;ENSP00000409498:K385T	ENSP00000351769:K420T	K	+	2	0	DUS2L	66670167	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.452000	0.90346	2.049000	0.60858	0.533000	0.62120	AAA		0.602	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2		NM_017803	
ECHDC1	55862	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	127652111	127652111	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr6:127652111delT	ENST00000531967.1	-	2	584	c.81delA	c.(79-81)acafs	p.T27fs	ECHDC1_ENST00000474289.2_Frame_Shift_Del_p.T21fs|ECHDC1_ENST00000528402.1_Intron|ECHDC1_ENST00000454859.3_Frame_Shift_Del_p.T21fs|ECHDC1_ENST00000454591.2_Intron|ECHDC1_ENST00000430841.2_Frame_Shift_Del_p.T21fs|ECHDC1_ENST00000368289.2_Frame_Shift_Del_p.T21fs|ECHDC1_ENST00000368291.2_Frame_Shift_Del_p.T21fs|ECHDC1_ENST00000309620.9_Frame_Shift_Del_p.T21fs	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	27						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		GTGACAATCCTGTTTGATGTA	0.393																																																	0													83.0	80.0	81.0					6																	127652111		2203	4300	6503	SO:0001589	frameshift_variant	55862			AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.81delA	6.37:g.127652111delT	ENSP00000436585:p.Thr27fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Frame_Shift_Del	DEL	ENST00000531967.1	37	CCDS47471.1																																																																																				0.393	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042131.2			
AGO1	26523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36372683	36372683	+	Silent	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr1:36372683C>T	ENST00000373204.4	+	12	1758	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L	AGO1_ENST00000373206.1_Silent_p.L440L	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	515	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L515L(1)									GGCTGCAGCTCATTATTGTCA	0.522																																																	1	Substitution - coding silent(1)	kidney(1)											125.0	101.0	109.0					1																	36372683		2203	4300	6503	SO:0001819	synonymous_variant	26523			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1545C>T	1.37:g.36372683C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5TA57|Q6P4S0	Silent	SNP	ENST00000373204.4	37	CCDS398.1																																																																																				0.522	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			
EIF4G1	1981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184049133	184049133	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr3:184049133G>C	ENST00000346169.2	+	29	4512	c.4241G>C	c.(4240-4242)gGt>gCt	p.G1414A	EIF4G1_ENST00000382330.3_Missense_Mutation_p.G1421A|EIF4G1_ENST00000435046.2_Missense_Mutation_p.G1218A|EIF4G1_ENST00000342981.4_Missense_Mutation_p.G1415A|EIF4G1_ENST00000424196.1_Missense_Mutation_p.G1421A|EIF4G1_ENST00000350481.5_Missense_Mutation_p.G1250A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.G1327A|EIF4G1_ENST00000414031.1_Missense_Mutation_p.G1374A|EIF4G1_ENST00000427845.1_Missense_Mutation_p.G1328A|EIF4G1_ENST00000319274.6_Missense_Mutation_p.G1414A|EIF4G1_ENST00000441154.1_Missense_Mutation_p.G1251A|EIF4G1_ENST00000352767.3_Missense_Mutation_p.G1421A|EIF4G1_ENST00000411531.1_Missense_Mutation_p.G1375A|EIF4G1_ENST00000434061.2_Missense_Mutation_p.G1219A	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1414					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.G1414A(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGACATTGGTGCATTCGTC	0.517																																																	1	Substitution - Missense(1)	kidney(1)											164.0	174.0	171.0					3																	184049133		2203	4300	6503	SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4241G>C	3.37:g.184049133G>C	ENSP00000316879:p.Gly1414Ala	Somatic		WXS	Illumina HiSeq	Phase_I	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	9.138	1.013198	0.19277	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.41	-1.11	0.09840	Armadillo-type fold (1);	0.326804	0.33217	N	0.005155	T	0.14527	0.0351	N	0.12182	0.205	0.24148	N	0.995704	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.11743	-1.0575	10	0.08599	T	0.76	0.9768	0.9879	0.01450	0.3581:0.2821:0.2173:0.1425	.	1421;1415;1414	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	A	1414;1374;1327;1421;1250;1421;1328;1415;1414;1421;1375;1251;1219;1218	ENSP00000316879:G1414A;ENSP00000391935:G1374A;ENSP00000376320:G1327A;ENSP00000371767:G1421A;ENSP00000317600:G1250A;ENSP00000338020:G1421A;ENSP00000407682:G1328A;ENSP00000343450:G1415A;ENSP00000323737:G1414A;ENSP00000416255:G1421A;ENSP00000395974:G1375A;ENSP00000399858:G1251A;ENSP00000411826:G1219A;ENSP00000404754:G1218A	ENSP00000323737:G1414A	G	+	2	0	EIF4G1	185531827	0.429000	0.25530	0.014000	0.15608	0.965000	0.64279	2.924000	0.48876	0.009000	0.14813	-0.259000	0.10710	GGT		0.517	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1		NM_182917	
ELF2	1998	broad.mit.edu;hgsc.bcm.edu	37	4	139980658	139980658	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr4:139980658T>C	ENST00000394235.2	-	10	1727	c.1225A>G	c.(1225-1227)Acc>Gcc	p.T409A	ELF2_ENST00000379549.2_Missense_Mutation_p.T332A|ELF2_ENST00000379550.1_Missense_Mutation_p.T421A|ELF2_ENST00000358635.3_Missense_Mutation_p.T361A|ELF2_ENST00000510408.1_Missense_Mutation_p.T349A|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000265495.4_Missense_Mutation_p.T409A	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)									p.T409A(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CTAGTGCTGGTTATTAATGGT	0.438																																																	1	Substitution - Missense(1)	kidney(1)											84.0	78.0	80.0					4																	139980658		2203	4297	6500	SO:0001583	missense	1998			AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.1225A>G	4.37:g.139980658T>C	ENSP00000377782:p.Thr409Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000394235.2	37	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	T	3.016	-0.202864	0.06219	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000540754;ENST00000510408	T;T;T;T;T;T	0.10192	2.93;3.09;3.11;3.09;3.12;2.9	5.6	5.6	0.85130	.	0.359749	0.34362	N	0.004037	T	0.06781	0.0173	N	0.17082	0.46	0.37889	D	0.930647	B;B;B;B;B	0.11235	0.0;0.004;0.0;0.0;0.001	B;B;B;B;B	0.08055	0.002;0.003;0.001;0.0;0.001	T	0.37197	-0.9716	9	.	.	.	.	10.1736	0.42924	0.0:0.0743:0.0:0.9257	.	224;409;332;349;361	B7Z8R4;Q15723-1;E9PCX3;B7Z720;Q15723-3	.;.;.;.;.	A	361;409;421;409;332;224;349	ENSP00000351458:T361A;ENSP00000377782:T409A;ENSP00000368868:T421A;ENSP00000265495:T409A;ENSP00000368867:T332A;ENSP00000426997:T349A	.	T	-	1	0	ELF2	140200108	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	3.135000	0.50546	2.124000	0.65301	0.528000	0.53228	ACC		0.438	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2		NM_006874	
ENTPD5	957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	74454758	74454758	+	Silent	SNP	A	A	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr14:74454758A>G	ENST00000334696.6	-	4	367	c.48T>C	c.(46-48)tgT>tgC	p.C16C	ENTPD5_ENST00000554664.1_5'Flank|ENTPD5_ENST00000556242.1_Silent_p.C16C|ENTPD5_ENST00000557325.1_Silent_p.C16C	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	16					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)	p.C16C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CGCTGCAAACACAGGATACCA	0.522																																																	1	Substitution - coding silent(1)	kidney(1)											89.0	72.0	78.0					14																	74454758		2203	4300	6503	SO:0001819	synonymous_variant	957			AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.48T>C	14.37:g.74454758A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A1L4C5|Q96RX0	Silent	SNP	ENST00000334696.6	37	CCDS9825.1																																																																																				0.522	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1		NM_001249	
EPB41L2	2037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	131179363	131179363	+	Silent	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr6:131179363C>T	ENST00000337057.3	-	19	3112	c.2931G>A	c.(2929-2931)agG>agA	p.R977R	EPB41L2_ENST00000529208.1_Silent_p.R907R|EPB41L2_ENST00000530757.1_Silent_p.R173R|EPB41L2_ENST00000531410.1_Silent_p.R98R|EPB41L2_ENST00000525193.1_Silent_p.R678R|EPB41L2_ENST00000524581.1_Silent_p.R355R|EPB41L2_ENST00000527659.1_Silent_p.R783R|EPB41L2_ENST00000525271.1_Silent_p.R645R|EPB41L2_ENST00000530481.1_Silent_p.R824R|EPB41L2_ENST00000528282.1_Silent_p.R719R|EPB41L2_ENST00000445890.2_Silent_p.R719R|EPB41L2_ENST00000368128.2_Silent_p.R977R|EPB41L2_ENST00000527411.1_Silent_p.R907R|EPB41L2_ENST00000392427.3_Silent_p.R645R	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	977	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)	p.R977R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCTGGCTTCCCTGATCGCCT	0.537																																																	1	Substitution - coding silent(1)	kidney(1)											231.0	180.0	197.0					6																	131179363		2203	4300	6503	SO:0001819	synonymous_variant	2037			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2931G>A	6.37:g.131179363C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Silent	SNP	ENST00000337057.3	37	CCDS5141.1																																																																																				0.537	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			
FBXO18	84893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	5948166	5948166	+	Silent	SNP	T	T	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr10:5948166T>C	ENST00000362091.4	+	3	439	c.324T>C	c.(322-324)agT>agC	p.S108S	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000379999.5_Silent_p.S159S	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	108					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.S159S(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AGGAAGGCAGTGCAGGGCCGG	0.612																																																	1	Substitution - coding silent(1)	kidney(1)											40.0	45.0	43.0					10																	5948166		2203	4300	6503	SO:0001819	synonymous_variant	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.324T>C	10.37:g.5948166T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	ENST00000362091.4	37	CCDS7072.1																																																																																				0.612	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1		NM_032807	
FBXO7	25793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	32875201	32875201	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr22:32875201A>C	ENST00000266087.7	+	2	683	c.356A>C	c.(355-357)cAa>cCa	p.Q119P	FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000397426.1_Missense_Mutation_p.Q5P|FBXO7_ENST00000382058.3_Missense_Mutation_p.Q40P	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	119	Important for interaction with PINK1.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.Q119P(2)|p.Q40P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGGATGAACAACCAAGTGAT	0.438																																																	3	Substitution - Missense(3)	kidney(3)											85.0	84.0	85.0					22																	32875201		2203	4300	6503	SO:0001583	missense	25793			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.356A>C	22.37:g.32875201A>C	ENSP00000266087:p.Gln119Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.739323	0.69304	.	.	ENSG00000100225	ENST00000266087;ENST00000452138;ENST00000382058;ENST00000397426;ENST00000444207	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.36	4.32	0.51571	.	0.997755	0.08119	N	0.994929	T	0.48150	0.1484	M	0.76574	2.34	0.09310	N	0.999997	P;B;P	0.42692	0.787;0.016;0.475	B;B;B	0.40782	0.34;0.003;0.188	T	0.48525	-0.9028	10	0.54805	T	0.06	-4.2935	3.4823	0.07607	0.6503:0.0:0.1837:0.166	.	40;119;5	Q9Y3I1-2;Q9Y3I1;Q5TI86	.;FBX7_HUMAN;.	P	119;40;40;5;5	ENSP00000266087:Q119P;ENSP00000388547:Q40P;ENSP00000371490:Q40P;ENSP00000380571:Q5P;ENSP00000404388:Q5P	ENSP00000266087:Q119P	Q	+	2	0	FBXO7	31205201	0.000000	0.05858	0.313000	0.25210	0.664000	0.39144	-0.131000	0.10482	0.882000	0.36016	0.397000	0.26171	CAA		0.438	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			
FIGF	2277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	15402054	15402054	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chrX:15402054C>A	ENST00000297904.3	-	1	444	c.15G>T	c.(13-15)tgG>tgT	p.W5C		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	5					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)	p.W5C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TCACCACTACCCACTCTCTGT	0.413																																																	1	Substitution - Missense(1)	kidney(1)											162.0	128.0	139.0					X																	15402054		2203	4300	6503	SO:0001583	missense	2277			AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.15G>T	X.37:g.15402054C>A	ENSP00000297904:p.Trp5Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7Z3	Missense_Mutation	SNP	ENST00000297904.3	37	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.625264	0.66901	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.47	5.47	0.80525	.	0.182670	0.37809	N	0.001936	T	0.73560	0.3602	M	0.68317	2.08	0.80722	D	1	D	0.69078	0.997	P	0.55667	0.781	T	0.77435	-0.2589	9	0.87932	D	0	-0.451	17.23	0.86982	0.0:1.0:0.0:0.0	.	5	O43915	VEGFD_HUMAN	C	5	.	ENSP00000297904:W5C	W	-	3	0	FIGF	15311975	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	3.625000	0.54238	2.280000	0.76307	0.513000	0.50165	TGG		0.413	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1		NM_004469	
FMNL1	752	broad.mit.edu;hgsc.bcm.edu	37	17	43318890	43318890	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr17:43318890C>A	ENST00000331495.3	+	14	1810	c.1474C>A	c.(1474-1476)Ctg>Atg	p.L492M	CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.L492M|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.L70M	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	492	Pro-rich.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)	p.L492M(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AATCCGTATTCTGCGGGGGCC	0.692																																					GBM(164;1247 1997 8702 11086 51972)												1	Substitution - Missense(1)	kidney(1)											14.0	8.0	10.0					17																	43318890		2041	4053	6094	SO:0001583	missense	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.1474C>A	17.37:g.43318890C>A	ENSP00000329219:p.Leu492Met	Somatic		WXS	Illumina HiSeq	Phase_I	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700791	0.30142	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.79749	-1.3;-1.3	3.73	0.576	0.17380	.	0.354761	0.25798	N	0.028224	T	0.75057	0.3798	L	0.34521	1.04	0.09310	N	1	D	0.61080	0.989	P	0.53809	0.735	T	0.66244	-0.5972	10	0.46703	T	0.11	.	7.0291	0.24956	0.0:0.6758:0.0:0.3242	.	492	O95466	FMNL_HUMAN	M	492;492;210	ENSP00000327442:L492M;ENSP00000329219:L492M	ENSP00000327442:L492M	L	+	1	2	FMNL1	40674673	0.039000	0.19947	0.693000	0.30195	0.788000	0.44548	0.731000	0.26058	-0.014000	0.14175	-0.481000	0.04817	CTG		0.692	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1		NM_005892	
GALNT10	55568	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	153755895	153755895	+	Silent	SNP	T	T	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr5:153755895T>G	ENST00000297107.6	+	5	764	c.627T>G	c.(625-627)ctT>ctG	p.L209L	GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000425427.2_Silent_p.L209L|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	209	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L209L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGAGGATTCTTCGAACCAAGA	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											117.0	117.0	117.0					5																	153755895		2203	4300	6503	SO:0001819	synonymous_variant	55568			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.627T>G	5.37:g.153755895T>G		Somatic		WXS	Illumina HiSeq	Phase_I	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Silent	SNP	ENST00000297107.6	37	CCDS4325.1																																																																																				0.502	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1		NM_198321	
GJA1	2697	hgsc.bcm.edu	37	6	121768925	121768925	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr6:121768925delC	ENST00000282561.3	+	2	1089	c.932delC	c.(931-933)gctfs	p.A311fs		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	311					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CAAAACTGGGCTAATTACAGT	0.478																																																	0			GRCh37	CD073645	GJA1	D							72.0	73.0	73.0					6																	121768925		2203	4300	6503	SO:0001589	frameshift_variant	2697			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.932delC	6.37:g.121768925delC	ENSP00000282561:p.Ala311fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5U9|Q6FHU1|Q9Y5I8	Frame_Shift_Del	DEL	ENST00000282561.3	37	CCDS5123.1																																																																																				0.478	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1		NM_000165	
GRTP1	79774	broad.mit.edu;ucsc.edu	37	13	114018185	114018185	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr13:114018185C>A	ENST00000375431.4	-	2	147	c.73G>T	c.(73-75)Gac>Tac	p.D25Y	GRTP1_ENST00000476439.1_5'UTR|GRTP1_ENST00000375430.4_Missense_Mutation_p.D25Y|GRTP1-AS1_ENST00000423246.1_RNA	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	25							Rab GTPase activator activity (GO:0005097)	p.D25Y(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TAGGCGGCGTCGTCGAAGTCC	0.662																																																	1	Substitution - Missense(1)	kidney(1)											27.0	32.0	31.0					13																	114018185		1901	4104	6005	SO:0001583	missense	79774			AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.73G>T	13.37:g.114018185C>A	ENSP00000364580:p.Asp25Tyr	Somatic		WXS	Illumina GAIIx	Phase_I	B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Missense_Mutation	SNP	ENST00000375431.4	37	CCDS9534.2	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.301498	0.01364	.	.	ENSG00000139835	ENST00000375431;ENST00000375430	T;T	0.11712	2.95;2.75	4.29	3.11	0.35812	.	0.069328	0.64402	N	0.000013	T	0.01421	0.0046	N	0.00017	-2.83	0.27476	N	0.952722	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39941	-0.9589	10	0.08837	T	0.75	.	9.2612	0.37614	0.8069:0.193:0.0:0.0	.	25;25	B9A6K2;Q5TC63	.;GRTP1_HUMAN	Y	25	ENSP00000364580:D25Y;ENSP00000364579:D25Y	ENSP00000364579:D25Y	D	-	1	0	GRTP1	113066186	1.000000	0.71417	0.300000	0.25030	0.015000	0.08874	4.107000	0.57811	0.608000	0.30000	-0.516000	0.04426	GAC		0.662	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045882.5		NM_024719	
HCK	3055	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	30671834	30671834	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr20:30671834G>A	ENST00000520553.1	+	7	853	c.607G>A	c.(607-609)Gac>Aac	p.D203N	HCK_ENST00000534862.1_Missense_Mutation_p.D204N|HCK_ENST00000518730.1_Missense_Mutation_p.D202N|HCK_ENST00000538448.1_Missense_Mutation_p.D203N|HCK_ENST00000375862.2_Missense_Mutation_p.D223N|HCK_ENST00000375852.2_Missense_Mutation_p.D224N	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	224	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.D203N(1)|p.D224N(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	GGAGCTGGTGGACCACTACAA	0.597																																																	2	Substitution - Missense(2)	kidney(2)											46.0	44.0	45.0					20																	30671834		2203	4300	6503	SO:0001583	missense	3055			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.607G>A	20.37:g.30671834G>A	ENSP00000429848:p.Asp203Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.170974	0.38315	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78	5.0	1.79	0.24919	SH2 motif (5);	0.562880	0.18569	N	0.137383	T	0.13114	0.0318	N	0.11818	0.18	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20140	-1.0284	10	0.48119	T	0.1	.	8.1797	0.31302	0.1534:0.4589:0.3877:0.0	.	202;224	P08631-3;P08631	.;HCK_HUMAN	N	204;203;223;203;202;224	ENSP00000444986:D204N;ENSP00000441169:D203N;ENSP00000365022:D223N;ENSP00000429848:D203N;ENSP00000427757:D202N;ENSP00000365012:D224N	ENSP00000365012:D224N	D	+	1	0	HCK	30135495	0.415000	0.25416	0.993000	0.49108	0.957000	0.61999	1.025000	0.30090	0.694000	0.31654	0.555000	0.69702	GAC		0.597	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			
HDAC6	10013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	48681371	48681371	+	Silent	SNP	G	G	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chrX:48681371G>A	ENST00000334136.5	+	25	2740	c.2562G>A	c.(2560-2562)aaG>aaA	p.K854K	HDAC6_ENST00000376619.2_Silent_p.K854K|HDAC6_ENST00000444343.2_Silent_p.K868K			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	854					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.K854K(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TCACCAAGAAGGCACCCCAAC	0.537																																					Pancreas(112;205 1675 2305 8976 15959)												1	Substitution - coding silent(1)	kidney(1)											67.0	54.0	58.0					X																	48681371		2203	4300	6503	SO:0001819	synonymous_variant	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2562G>A	X.37:g.48681371G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O94975|Q6NT75|Q7L3E5|Q96CY0	Silent	SNP	ENST00000334136.5	37	CCDS14306.1																																																																																				0.537	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2		NM_006044	
IDO2	169355	broad.mit.edu;hgsc.bcm.edu	37	8	39836668	39836668	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr8:39836668G>C	ENST00000389060.4	+	3	278	c.278G>C	c.(277-279)gGt>gCt	p.G93A	RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000502986.2_Missense_Mutation_p.G106A|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	93					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)	p.G93A(1)|p.G106A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CTCACCATGGGTTATGTCTGG	0.612																																																	2	Substitution - Missense(2)	kidney(2)											32.0	35.0	34.0					8																	39836668		2023	4183	6206	SO:0001583	missense	169355			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.278G>C	8.37:g.39836668G>C	ENSP00000426447:p.Gly93Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A4UD41	Missense_Mutation	SNP	ENST00000389060.4	37		.	.	.	.	.	.	.	.	.	.	G	12.76	2.034699	0.35893	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.35789	1.29;1.29	5.36	5.36	0.76844	.	0.103335	0.64402	D	0.000003	T	0.37972	0.1023	N	0.21617	0.685	0.42214	D	0.991825	P	0.47677	0.899	P	0.54060	0.741	T	0.07404	-1.0774	9	.	.	.	.	14.5911	0.68365	0.0:0.0:1.0:0.0	.	106	F5H5G0	.	A	106;93	ENSP00000443432:G106A;ENSP00000426447:G93A	.	G	+	2	0	IDO2	39955825	1.000000	0.71417	0.882000	0.34594	0.438000	0.31896	7.396000	0.79891	2.533000	0.85409	0.467000	0.42956	GGT		0.612	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1		NM_194294	
INSIG1	3638	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	155094505	155094505	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr7:155094505A>G	ENST00000340368.4	+	5	964	c.753A>G	c.(751-753)atA>atG	p.I251M	INSIG1_ENST00000342407.5_Missense_Mutation_p.Y154C|INSIG1_ENST00000344756.4_Missense_Mutation_p.I99M	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	251					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)		p.I251M(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCTTGTATATTTTTCTCAG	0.418																																																	1	Substitution - Missense(1)	kidney(1)											189.0	182.0	184.0					7																	155094505		2203	4300	6503	SO:0001583	missense	3638				CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"""INSIG-1 membrane protein"""	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.753A>G	7.37:g.155094505A>G	ENSP00000344741:p.Ile251Met	Somatic		WXS	Illumina HiSeq	Phase_I	A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Missense_Mutation	SNP	ENST00000340368.4	37	CCDS5938.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	21.3|21.3|21.3	4.132653|4.132653|4.132653	0.77662|0.77662|0.77662	.|.|.	.|.|.	ENSG00000186480|ENSG00000186480|ENSG00000186480	ENST00000340368;ENST00000344756|ENST00000476756|ENST00000342407	T;T|.|T	0.56776|.|0.49720	0.51;0.44|.|0.77	5.19|5.19|5.19	-4.56|-4.56|-4.56	0.03431|0.03431|0.03431	.|.|.	0.044110|0.044110|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	T|T|T	0.57975|0.57975|0.57975	0.2090|0.2090|0.2090	M|M|M	0.77820|0.77820|0.77820	2.39|2.39|2.39	0.51233|0.51233|0.51233	D|D|D	0.999918|0.999918|0.999918	D;D|.|D	0.89917|.|0.71674	0.999;1.0|.|0.998	D;D|.|P	0.91635|.|0.60173	0.983;0.999|.|0.87	T|T|T	0.66822|0.66822|0.66822	-0.5826|-0.5826|-0.5826	10|7|9	0.72032|0.07030|0.72032	D|T|D	0.01|0.85|0.01	.|.|.	8.9444|8.9444|8.9444	0.35749|0.35749|0.35749	0.4632:0.3675:0.0:0.1693|0.4632:0.3675:0.0:0.1693|0.4632:0.3675:0.0:0.1693	.|.|.	99;251|.|154	F5H6P3;O15503|.|A4D2N1	.;INSI1_HUMAN|.|.	M|V|C	251;99|160|154	ENSP00000344741:I251M;ENSP00000340010:I99M|.|ENSP00000344035:Y154C	ENSP00000344741:I251M|ENSP00000420198:I160V|ENSP00000344035:Y154C	I|I|Y	+|+|+	3|1|2	3|0|0	INSIG1|INSIG1|INSIG1	154725440|154725440|154725440	0.937000|0.937000|0.937000	0.31787|0.31787|0.31787	0.887000|0.887000|0.887000	0.34795|0.34795|0.34795	0.927000|0.927000|0.927000	0.56198|0.56198|0.56198	0.108000|0.108000|0.108000	0.15396|0.15396|0.15396	-0.524000|-0.524000|-0.524000	0.06400|0.06400|0.06400	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	ATA|ATT|TAT		0.418	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322244.3		NM_198336	
KIF13A	63971	hgsc.bcm.edu;ucsc.edu	37	6	17764666	17764666	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr6:17764666delG	ENST00000259711.6	-	39	5198	c.5093delC	c.(5092-5094)tcafs	p.S1698fs	KIF13A_ENST00000378826.2_Frame_Shift_Del_p.S1663fs|KIF13A_ENST00000378816.5_Frame_Shift_Del_p.S1663fs|KIF13A_ENST00000378843.2_Frame_Shift_Del_p.S1650fs|KIF13A_ENST00000378814.5_Frame_Shift_Del_p.S1650fs	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1698					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTCTGAACATGAGCCAGTCCT	0.527																																																	0													95.0	87.0	90.0					6																	17764666		1961	4159	6120	SO:0001589	frameshift_variant	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.5093delC	6.37:g.17764666delG	ENSP00000259711:p.Ser1698fs	Somatic		WXS	Illumina HiSeq	Phase_I	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Frame_Shift_Del	DEL	ENST00000259711.6	37	CCDS47381.1																																																																																				0.527	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			
KRT74	121391	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52967395	52967395	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr12:52967395T>A	ENST00000305620.2	-	1	214	c.167A>T	c.(166-168)aAt>aTt	p.N56I	KRT74_ENST00000549343.1_Missense_Mutation_p.N56I	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	56	Gly-rich.|Head.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)	p.N56I(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		AATACGCCGATTCCCTCCAAG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											54.0	59.0	57.0					12																	52967395		2203	4300	6503	SO:0001583	missense	121391			BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.167A>T	12.37:g.52967395T>A	ENSP00000307240:p.Asn56Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	T	4.912	0.169550	0.09339	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	T;T	0.19394	2.15;2.15	4.41	-1.35	0.09114	.	0.418775	0.17691	N	0.165258	T	0.13841	0.0335	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.19224	-1.0312	10	0.49607	T	0.09	.	1.414	0.02298	0.1481:0.3099:0.3039:0.2382	.	56	Q7RTS7	K2C74_HUMAN	I	56	ENSP00000447447:N56I;ENSP00000307240:N56I	ENSP00000307240:N56I	N	-	2	0	KRT74	51253662	0.000000	0.05858	0.002000	0.10522	0.097000	0.18754	-0.925000	0.03992	-0.014000	0.14175	0.459000	0.35465	AAT		0.622	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1		NM_175053	
KRT74	121391	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52967397	52967397	+	Silent	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr12:52967397C>A	ENST00000305620.2	-	1	212	c.165G>T	c.(163-165)ggG>ggT	p.G55G	KRT74_ENST00000549343.1_Silent_p.G55G	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	55	Gly-rich.|Head.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)	p.G55G(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TACGCCGATTCCCTCCAAGGC	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											54.0	59.0	57.0					12																	52967397		2203	4300	6503	SO:0001819	synonymous_variant	121391			BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.165G>T	12.37:g.52967397C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B5MD61|Q86Y45	Silent	SNP	ENST00000305620.2	37	CCDS8832.1																																																																																				0.627	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1		NM_175053	
KRTAP10-4	386672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	45993662	45993662	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr21:45993662C>G	ENST00000400374.3	+	1	57	c.27C>G	c.(25-27)agC>agG	p.S9R	TSPEAR_ENST00000397916.1_5'UTR|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	9						keratin filament (GO:0045095)		p.S9R(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GCGACCTGAGCTACAGCAGCC	0.652																																																	1	Substitution - Missense(1)	kidney(1)											79.0	99.0	92.0					21																	45993662		2176	4275	6451	SO:0001583	missense	386672			AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.27C>G	21.37:g.45993662C>G	ENSP00000383225:p.Ser9Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	16.16	3.043124	0.55003	.	.	ENSG00000215454	ENST00000400374	T	0.01152	5.26	4.38	4.38	0.52667	.	.	.	.	.	T	0.05914	0.0154	M	0.78456	2.415	0.19575	N	0.999966	D	0.71674	0.998	D	0.75484	0.986	T	0.17137	-1.0379	9	0.87932	D	0	.	8.3137	0.32086	0.0:0.8891:0.0:0.1109	.	9	P60372	KR104_HUMAN	R	9	ENSP00000383225:S9R	ENSP00000383225:S9R	S	+	3	2	KRTAP10-4	44818090	0.398000	0.25279	0.985000	0.45067	0.741000	0.42261	1.421000	0.34815	1.968000	0.57251	0.484000	0.47621	AGC		0.652	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1		NM_198687	
LARS	51520	hgsc.bcm.edu	37	5	145543912	145543913	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr5:145543912_145543913insG	ENST00000394434.2	-	6	720_721	c.554_555insC	c.(553-555)ccgfs	p.P185fs	LARS_ENST00000510191.1_Frame_Shift_Ins_p.P131fs|LARS_ENST00000274562.9_Frame_Shift_Ins_p.P158fs|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000545646.1_Frame_Shift_Ins_p.P139fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	185					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TAGCCAGTGGCGGGAAATAATC	0.366																																																	0																																										SO:0001589	frameshift_variant	51520			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.555dupC	5.37:g.145543915_145543915dupG	ENSP00000377954:p.Pro185fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Frame_Shift_Ins	INS	ENST00000394434.2	37	CCDS34265.1																																																																																				0.366	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1		NM_020117	
LTA4H	4048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	96421288	96421288	+	Silent	SNP	A	A	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr12:96421288A>G	ENST00000228740.2	-	3	486	c.345T>C	c.(343-345)gcT>gcC	p.A115A	RP11-256L6.2_ENST00000547346.1_RNA|LTA4H_ENST00000413268.2_Silent_p.A91A|LTA4H_ENST00000552789.1_Silent_p.A91A	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	115				A -> T (in Ref. 6; BX647158). {ECO:0000305}.	arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A115A(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	GCCACTGGAGAGCAGAAGATT	0.373																																																	1	Substitution - coding silent(1)	kidney(1)											74.0	77.0	76.0					12																	96421288		2203	4300	6503	SO:0001819	synonymous_variant	4048			BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.345T>C	12.37:g.96421288A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Silent	SNP	ENST00000228740.2	37	CCDS9059.1																																																																																				0.373	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1		NM_000895	
MAGI2	9863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	79082436	79082436	+	Silent	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr7:79082436C>A	ENST00000354212.4	-	1	454	c.201G>T	c.(199-201)ctG>ctT	p.L67L	MAGI2-AS3_ENST00000446159.1_RNA|MAGI2-AS3_ENST00000422093.1_RNA|MAGI2_ENST00000522391.1_Silent_p.L67L|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2-AS3_ENST00000424477.1_RNA|MAGI2-AS3_ENST00000448195.1_RNA|MAGI2-AS3_ENST00000451809.1_RNA|MAGI2_ENST00000419488.1_Silent_p.L67L|MAGI2-AS3_ENST00000414797.1_RNA|MAGI2-AS3_ENST00000429408.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	67	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.L67L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CGTTCACCTCCAGCAGCAGCT	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											51.0	56.0	54.0					7																	79082436		2203	4300	6503	SO:0001819	synonymous_variant	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.201G>T	7.37:g.79082436C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	CCDS5594.1																																																																																				0.637	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3		NM_012301	
MAN1B1	11253	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	140002045	140002045	+	Silent	SNP	C	C	T	rs201933207		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr9:140002045C>T	ENST00000371589.4	+	12	1900	c.1827C>T	c.(1825-1827)cgC>cgT	p.R609R	MAN1B1_ENST00000474902.1_Silent_p.R312R|MAN1B1_ENST00000540391.1_3'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	609					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.R609R(1)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ACCTGTACCGCGTCACAGGGG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		18486	0.001		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											110.0	100.0	104.0					9																	140002045		2203	4300	6503	SO:0001819	synonymous_variant	11253			AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1827C>T	9.37:g.140002045C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VSG3|Q9BRS9|Q9Y5K7	Silent	SNP	ENST00000371589.4	37	CCDS7029.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.139	0.393868	0.11638	.	.	ENSG00000177239	ENST00000535144;ENST00000475449;ENST00000550113	D;D;D	0.89875	-2.58;-2.58;-2.58	5.19	-3.49	0.04724	.	.	.	.	.	T	0.82148	0.4974	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71027	-0.4711	5	.	.	.	.	1.8002	0.03070	0.1624:0.3824:0.2481:0.207	.	.	.	.	C	583;83;47	ENSP00000441398:R583C;ENSP00000448658:R83C;ENSP00000450147:R47C	.	R	+	1	0	MAN1B1	139121866	0.002000	0.14202	0.058000	0.19502	0.644000	0.38419	-0.166000	0.09954	-0.201000	0.10284	-0.224000	0.12420	CGT		0.647	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2		NM_016219	
MAP1LC3A	84557	broad.mit.edu;hgsc.bcm.edu	37	20	33147238	33147238	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr20:33147238G>T	ENST00000360668.3	+	3	945	c.184G>T	c.(184-186)Gag>Tag	p.E62*	MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Nonsense_Mutation_p.E62*|MAP1LC3A_ENST00000374837.3_Nonsense_Mutation_p.E66*			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	62					autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)	p.E66*(1)		cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						CAACATGAGCGAGTTGGTCAA	0.642																																																	1	Substitution - Nonsense(1)	kidney(1)											46.0	44.0	45.0					20																	33147238		2200	4297	6497	SO:0001587	stop_gained	84557				CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.184G>T	20.37:g.33147238G>T	ENSP00000353886:p.Glu62*	Somatic		WXS	Illumina HiSeq	Phase_I	E1P5P4|E1P5P5|Q9BXW5	Nonsense_Mutation	SNP	ENST00000360668.3	37	CCDS13238.1	.	.	.	.	.	.	.	.	.	.	G	37	6.065572	0.97251	.	.	ENSG00000101460	ENST00000374837;ENST00000360668;ENST00000397709	.	.	.	5.08	5.08	0.68730	.	0.045827	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-5.0995	18.0581	0.89369	0.0:0.0:1.0:0.0	.	.	.	.	X	66;62;62	.	ENSP00000353886:E62X	E	+	1	0	MAP1LC3A	32610899	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.927000	0.87577	2.357000	0.79964	0.313000	0.20887	GAG		0.642	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078801.2		NM_181509	
MCCC2	64087	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	70928000	70928000	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr5:70928000A>G	ENST00000340941.6	+	8	920	c.791A>G	c.(790-792)gAt>gGt	p.D264G	MCCC2_ENST00000509358.2_Missense_Mutation_p.D264G|MCCC2_ENST00000323375.8_Missense_Mutation_p.D226G|MCCC2_ENST00000510895.2_3'UTR	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	264	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.D264G(1)		endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GGAGGTGCTGATCTTCATTGC	0.393																																																	1	Substitution - Missense(1)	kidney(1)											308.0	292.0	298.0					5																	70928000		2203	4300	6503	SO:0001583	missense	64087			AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.791A>G	5.37:g.70928000A>G	ENSP00000343657:p.Asp264Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	ENST00000340941.6	37	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.769472	0.90020	.	.	ENSG00000131844	ENST00000340941;ENST00000509358;ENST00000323375;ENST00000509539	D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5	5.16	5.16	0.70880	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98661	0.9551	M	0.87456	2.885	0.80722	D	1	D;P;P	0.61697	0.99;0.907;0.912	D;P;P	0.67231	0.95;0.792;0.877	D	0.99686	1.1000	10	0.87932	D	0	-31.4804	14.2713	0.66154	1.0:0.0:0.0:0.0	.	264;133;264	D6RDF7;B3KR24;Q9HCC0	.;.;MCCB_HUMAN	G	264;264;226;39	ENSP00000343657:D264G;ENSP00000420994:D264G;ENSP00000327308:D226G;ENSP00000425474:D39G	ENSP00000327308:D226G	D	+	2	0	MCCC2	70963756	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.486000	0.90451	2.088000	0.63022	0.454000	0.30748	GAT		0.393	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			
MCM2	4171	hgsc.bcm.edu	37	3	127323892	127323893	+	Frame_Shift_Ins	INS	-	-	G	rs555504342		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr3:127323892_127323893insG	ENST00000265056.7	+	4	810_811	c.566_567insG	c.(565-570)gcgggcfs	p.AG189fs		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	189	Interaction with KAT7. {ECO:0000250}.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GTGAGCATGGCGGGCCCCCGGC	0.629																																																	0																																										SO:0001589	frameshift_variant	4171			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.569dupG	3.37:g.127323895_127323895dupG	ENSP00000265056:p.Ala189fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Frame_Shift_Ins	INS	ENST00000265056.7	37	CCDS3043.1																																																																																				0.629	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			
MCM2	4171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	127325478	127325478	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr3:127325478C>A	ENST00000265056.7	+	6	1163	c.919C>A	c.(919-921)Cgc>Agc	p.R307S		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	307					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)	p.R307S(1)		ovary(3)|skin(2)|stomach(1)	6						CCAGCTGATCCGCACCAGTGG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											60.0	56.0	57.0					3																	127325478		2203	4300	6503	SO:0001583	missense	4171			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.919C>A	3.37:g.127325478C>A	ENSP00000265056:p.Arg307Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346420	0.82022	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.09445	2.98	4.99	4.99	0.66335	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.38427	0.1040	M	0.82823	2.61	0.80722	D	1	D;D;D	0.69078	0.997;0.982;0.967	D;P;P	0.75484	0.986;0.862;0.809	T	0.39901	-0.9591	10	0.87932	D	0	-20.494	18.3029	0.90169	0.0:1.0:0.0:0.0	.	288;177;307	F5H1E9;B4DSV5;P49736	.;.;MCM2_HUMAN	S	307;211;288	ENSP00000265056:R307S	ENSP00000265056:R307S	R	+	1	0	MCM2	128808168	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.118000	0.50414	2.302000	0.77476	0.585000	0.79938	CGC		0.602	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			
MECOM	2122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	168802758	168802758	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr3:168802758C>T	ENST00000464456.1	-	15	4268	c.3068G>A	c.(3067-3069)tGg>tAg	p.W1023*	MECOM_ENST00000264674.3_Nonsense_Mutation_p.W1097*|MECOM_ENST00000392736.3_Nonsense_Mutation_p.W1032*|MECOM_ENST00000472280.1_Nonsense_Mutation_p.W1033*|MECOM_ENST00000468789.1_Nonsense_Mutation_p.W1032*|MECOM_ENST00000460814.1_3'UTR|MECOM_ENST00000494292.1_Nonsense_Mutation_p.W1211*|MECOM_ENST00000433243.2_Nonsense_Mutation_p.W1033*	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W1032*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CATACTGTGCCACACGTTGGA	0.517																																																	1	Substitution - Nonsense(1)	kidney(1)											177.0	153.0	161.0					3																	168802758		2203	4300	6503	SO:0001587	stop_gained	2122			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.3068G>A	3.37:g.168802758C>T	ENSP00000419770:p.Trp1023*	Somatic		WXS	Illumina HiSeq	Phase_I	Q13466|Q6FH90	Nonsense_Mutation	SNP	ENST00000464456.1	37	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	40	8.071459	0.98640	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000433243	.	.	.	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.535	20.0368	0.97565	0.0:1.0:0.0:0.0	.	.	.	.	X	1097;1032;1023;1033;1211;1032;1033	.	ENSP00000264674:W1097X	W	-	2	0	MECOM	170285452	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.141000	0.77330	2.735000	0.93741	0.563000	0.77884	TGG		0.517	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1		NM_005241, NM_004991	
MMP12	4321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	102742668	102742668	+	RNA	SNP	G	G	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr11:102742668G>C	ENST00000532855.1	-	0	461							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T122R(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	CATGTCAGGTGTGTAATTATT	0.378																																																	1	Substitution - Missense(1)	kidney(1)											60.0	59.0	59.0					11																	102742668		1907	4130	6037			4321			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102742668G>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2R9X8|B7ZLF6|Q2M1L9	Missense_Mutation	SNP	ENST00000532855.1	37																																																																																					0.378	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1		NM_002426	
MON2	23041	hgsc.bcm.edu;ucsc.edu	37	12	62892790	62892790	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr12:62892790delT	ENST00000393632.2	+	5	918	c.527delT	c.(526-528)gttfs	p.V176fs	MON2_ENST00000280379.6_Frame_Shift_Del_p.V176fs|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000546600.1_Frame_Shift_Del_p.V176fs|MON2_ENST00000393630.3_Frame_Shift_Del_p.V176fs|MON2_ENST00000393629.2_Frame_Shift_Del_p.V176fs|MON2_ENST00000552738.1_Frame_Shift_Del_p.V176fs|MON2_ENST00000552115.1_Frame_Shift_Del_p.V176fs	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	176					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GTTACTGTTGTTTTTGAGAGG	0.368																																																	0													250.0	239.0	243.0					12																	62892790		2203	4300	6503	SO:0001589	frameshift_variant	23041				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.527delT	12.37:g.62892790delT	ENSP00000377252:p.Val176fs	Somatic		WXS	Illumina HiSeq	Phase_I	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Frame_Shift_Del	DEL	ENST00000393632.2	37	CCDS31849.1																																																																																				0.368	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3		NM_015026	
MTCH1	23787	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	36938212	36938212	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr6:36938212A>G	ENST00000373627.5	-	10	1116	c.992T>C	c.(991-993)gTt>gCt	p.V331A	MTCH1_ENST00000538808.1_Missense_Mutation_p.V158A|MTCH1_ENST00000471737.1_5'UTR|MTCH1_ENST00000373616.5_Missense_Mutation_p.V314A	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	331					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.V314A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GAGGTCGCCAACTAGCAGGAA	0.627																																																	1	Substitution - Missense(1)	kidney(1)											91.0	82.0	85.0					6																	36938212		2203	4300	6503	SO:0001583	missense	23787			AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"""Solute carriers"""	17586	protein-coding gene	gene with protein product	"""solute carrier family 25, member 49"""	610449	"""mitochondrial carrier homolog 1 (C. elegans)"""			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.992T>C	6.37:g.36938212A>G	ENSP00000362730:p.Val331Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Missense_Mutation	SNP	ENST00000373627.5	37		.	.	.	.	.	.	.	.	.	.	A	22.3	4.270913	0.80469	.	.	ENSG00000137409	ENST00000373616;ENST00000373627;ENST00000337855;ENST00000373565;ENST00000460219;ENST00000538808	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	5.52	5.52	0.82312	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000013	D	0.86644	0.5982	M	0.74546	2.27	0.53005	D	0.999962	D;D;D;D	0.76494	0.999;0.998;0.997;0.99	D;D;D;D	0.78314	0.991;0.984;0.978;0.98	D	0.88309	0.2955	10	0.62326	D	0.03	-11.2963	14.2274	0.65868	1.0:0.0:0.0:0.0	.	158;313;331;314	B4E0C5;Q8IW90;Q9NZJ7;Q9NZJ7-2	.;.;MTCH1_HUMAN;.	A	314;331;250;144;298;158	ENSP00000362718:V314A;ENSP00000362730:V331A;ENSP00000419739:V298A;ENSP00000437660:V158A	ENSP00000338712:V250A	V	-	2	0	MTCH1	37046190	1.000000	0.71417	0.937000	0.37676	0.926000	0.56050	5.547000	0.67249	2.100000	0.63781	0.533000	0.62120	GTT		0.627	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040396.1		NM_014341	
MYH6	4624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23872974	23872974	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr14:23872974C>T	ENST00000356287.3	-	8	778	c.749G>A	c.(748-750)aGg>aAg	p.R250K	MYH6_ENST00000405093.3_Missense_Mutation_p.R250K			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	250	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.R250K(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AAAGTGGATCCTAATGAATTT	0.577																																																	1	Substitution - Missense(1)	kidney(1)											44.0	39.0	40.0					14																	23872974		2203	4300	6503	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.749G>A	14.37:g.23872974C>T	ENSP00000348634:p.Arg250Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	23.4	4.406063	0.83230	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.71103	-0.54;-0.54	3.54	3.54	0.40534	Myosin head, motor domain (3);	.	.	.	.	D	0.82536	0.5058	M	0.78801	2.425	0.45005	D	0.998025	B;B	0.28971	0.229;0.229	P;P	0.50490	0.642;0.642	D	0.85224	0.1028	9	0.87932	D	0	.	15.2521	0.73556	0.0:1.0:0.0:0.0	.	250;250	D9YZU2;P13533	.;MYH6_HUMAN	K	250	ENSP00000386041:R250K;ENSP00000348634:R250K	ENSP00000348634:R250K	R	-	2	0	MYH6	22942814	0.976000	0.34144	1.000000	0.80357	0.729000	0.41735	5.561000	0.67339	1.979000	0.57680	0.462000	0.41574	AGG		0.577	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			
MYO3A	53904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	26414398	26414398	+	Missense_Mutation	SNP	G	G	A	rs201181958	byFrequency	TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr10:26414398G>A	ENST00000265944.5	+	19	2141	c.1975G>A	c.(1975-1977)Gga>Aga	p.G659R	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	659	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G659R(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGTCACTAGAGGAGAAACAAT	0.423													G|||	6	0.00119808	0.0	0.0	5008	,	,		17572	0.0		0.0	False		,,,				2504	0.0061																1	Substitution - Missense(1)	kidney(1)											108.0	103.0	105.0					10																	26414398		2203	4300	6503	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1975G>A	10.37:g.26414398G>A	ENSP00000265944:p.Gly659Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412567	0.96072	.	.	ENSG00000095777	ENST00000265944	D	0.86030	-2.06	5.91	5.91	0.95273	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.91925	0.7443	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91810	0.5459	10	0.87932	D	0	.	20.2872	0.98536	0.0:0.0:1.0:0.0	.	659	Q8NEV4	MYO3A_HUMAN	R	659	ENSP00000265944:G659R	ENSP00000265944:G659R	G	+	1	0	MYO3A	26454404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.799000	0.96334	0.585000	0.79938	GGA		0.423	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1		NM_017433	
NLRC5	84166	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	57104485	57104485	+	Missense_Mutation	SNP	C	C	G	rs377644369		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr16:57104485C>G	ENST00000262510.6	+	38	4847	c.4622C>G	c.(4621-4623)gCg>gGg	p.A1541G	NLRC5_ENST00000539144.1_Missense_Mutation_p.A1512G|NLRC5_ENST00000308149.7_Missense_Mutation_p.A1512G|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1541					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.A1541G(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GGCACCAAGGCGCTGATGAGG	0.557																																																	1	Substitution - Missense(1)	kidney(1)											154.0	126.0	135.0					16																	57104485		2198	4300	6498	SO:0001583	missense	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4622C>G	16.37:g.57104485C>G	ENSP00000262510:p.Ala1541Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705171	0.68615	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.69435	-0.4;-0.4;-0.4	4.21	-0.836	0.10770	.	.	.	.	.	T	0.38161	0.1030	N	0.20766	0.605	0.09310	N	1	P	0.43578	0.811	B	0.33521	0.165	T	0.25222	-1.0138	9	0.21540	T	0.41	.	3.1407	0.06455	0.1911:0.2867:0.0:0.5222	.	1541	Q86WI3	NLRC5_HUMAN	G	1541;1512;1512	ENSP00000262510:A1541G;ENSP00000308886:A1512G;ENSP00000441727:A1512G	ENSP00000262510:A1541G	A	+	2	0	NLRC5	55661986	0.004000	0.15560	0.002000	0.10522	0.592000	0.36648	-1.051000	0.03507	-0.168000	0.10853	0.579000	0.79373	GCG		0.557	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1		NM_032206	
NOD1	10392	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	30486629	30486629	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr7:30486629A>T	ENST00000222823.4	-	8	2848	c.2323T>A	c.(2323-2325)Tac>Aac	p.Y775N		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	775					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.Y775N(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TTGGTGACGTACCTGGCTCCG	0.463																																																	1	Substitution - Missense(1)	kidney(1)											202.0	179.0	187.0					7																	30486629		2203	4300	6503	SO:0001583	missense	10392			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2323T>A	7.37:g.30486629A>T	ENSP00000222823:p.Tyr775Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.821279	0.71028	.	.	ENSG00000106100	ENST00000222823	T	0.52754	0.65	5.95	5.95	0.96441	.	0.215520	0.43579	D	0.000546	T	0.55847	0.1946	L	0.54323	1.7	0.80722	D	1	D	0.60160	0.987	P	0.53809	0.735	T	0.52064	-0.8625	10	0.30854	T	0.27	.	15.6048	0.76658	1.0:0.0:0.0:0.0	.	775	Q9Y239	NOD1_HUMAN	N	775	ENSP00000222823:Y775N	ENSP00000222823:Y775N	Y	-	1	0	NOD1	30453154	0.997000	0.39634	0.901000	0.35422	0.869000	0.49853	4.626000	0.61269	2.279000	0.76181	0.533000	0.62120	TAC		0.463	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			
NOP56	10528	hgsc.bcm.edu	37	20	2637724	2637724	+	Intron	SNP	C	C	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr20:2637724C>G	ENST00000329276.5	+	11	1797				NOP56_ENST00000492135.1_Intron|SNORA51_ENST00000606420.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD57_ENST00000448188.1_RNA|SNORD56_ENST00000413522.1_RNA|SNORD110_ENST00000408189.1_RNA|SNORD86_ENST00000391196.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein						cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TTTCTTTGACCAGGCAGAGGA	0.478																																																	0													60.0	64.0	63.0					20																	2637724		2203	4300	6503	SO:0001627	intron_variant	10528			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1282-3C>G	20.37:g.2637724C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q2M3T6|Q9NQ05	RNA	SNP	ENST00000329276.5	37	CCDS13030.1																																																																																				0.478	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2		NM_006392	
NUPL2	11097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	23240190	23240190	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr7:23240190T>A	ENST00000258742.5	+	7	1357	c.1098T>A	c.(1096-1098)aaT>aaA	p.N366K		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	366	Interaction with GLE1.|Ser-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)	p.N366K(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTTTGGAAATAGCAGCATAT	0.463																																																	1	Substitution - Missense(1)	kidney(1)											148.0	141.0	143.0					7																	23240190		2203	4300	6503	SO:0001583	missense	11097			U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.1098T>A	7.37:g.23240190T>A	ENSP00000258742:p.Asn366Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	T	2.604	-0.292389	0.05568	.	.	ENSG00000136243	ENST00000258742;ENST00000413919	T;T	0.29917	1.64;1.55	5.6	-1.65	0.08291	.	1.188620	0.05651	N	0.585190	T	0.19446	0.0467	L	0.36672	1.1	0.09310	N	1	B	0.34015	0.435	B	0.28139	0.086	T	0.20107	-1.0285	10	0.12103	T	0.63	-0.2438	7.8602	0.29506	0.0:0.4332:0.1235:0.4432	.	366	O15504	NUPL2_HUMAN	K	366;391	ENSP00000258742:N366K;ENSP00000401475:N391K	ENSP00000258742:N366K	N	+	3	2	NUPL2	23206715	0.000000	0.05858	0.097000	0.21041	0.661000	0.39034	-0.039000	0.12124	-0.167000	0.10871	-0.250000	0.11733	AAT		0.463	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2		NM_007342	
PCDHGB3	56102	hgsc.bcm.edu	37	5	140795208	140795209	+	Intron	INS	-	-	A	rs113784532		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr5:140795208_140795209insA	ENST00000576222.1	+	1	2546				PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACTTTTGTTAAAAAAAAAAA	0.317																																																	0																																										SO:0001627	intron_variant	56106			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+42832->A	5.37:g.140795219_140795219dupA		Somatic		WXS	Illumina HiSeq	Phase_I	A7E229|Q9Y5C7	Frame_Shift_Ins	INS	ENST00000576222.1	37	CCDS58980.1																																																																																				0.317	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1		NM_018924	
PIGL	9487	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	16120578	16120578	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr17:16120578T>C	ENST00000225609.5	+	1	55	c.38T>C	c.(37-39)gTc>gCc	p.V13A	PIGL_ENST00000463810.1_3'UTR|PIGL_ENST00000498772.2_Missense_Mutation_p.V13A|NCOR1_ENST00000268712.3_5'Flank|PIGL_ENST00000395844.4_Missense_Mutation_p.V13A|PIGL_ENST00000581006.1_Missense_Mutation_p.V13A	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	13					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	N-acetylglucosaminylphosphatidylinositol deacetylase activity (GO:0000225)	p.V13A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GCGTTGGCGGTCTTGGCATGG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											115.0	97.0	103.0					17																	16120578		2203	4300	6503	SO:0001583	missense	9487			AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	3.5.1.89	"""Phosphatidylinositol glycan anchor biosynthesis"""	8966	protein-coding gene	gene with protein product	"""N-acetylglucosaminylphosphatidylinositol deacetylase"""	605947	"""phosphatidylinositol glycan, class L"""			10085243	Standard	NM_004278		Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000225609.5:c.38T>C	17.37:g.16120578T>C	ENSP00000225609:p.Val13Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A8KA67|B4DYN4	Missense_Mutation	SNP	ENST00000225609.5	37	CCDS11176.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.324784	0.24080	.	.	ENSG00000108474	ENST00000225609;ENST00000395844	T;T	0.78126	-1.07;-1.15	5.22	0.175	0.15045	.	0.904510	0.09371	N	0.811322	T	0.63534	0.2519	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.46527	-0.9185	10	0.27785	T	0.31	-6.2874	7.746	0.28869	0.0:0.3813:0.0:0.6187	.	13;13	B4DYN4;Q9Y2B2	.;PIGL_HUMAN	A	13	ENSP00000225609:V13A;ENSP00000379185:V13A	ENSP00000225609:V13A	V	+	2	0	PIGL	16061303	0.000000	0.05858	0.005000	0.12908	0.014000	0.08584	0.050000	0.14120	0.025000	0.15241	0.533000	0.62120	GTC		0.617	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131881.1			
PLA2G15	23659	broad.mit.edu;hgsc.bcm.edu	37	16	68283194	68283194	+	Splice_Site	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr16:68283194C>T	ENST00000219345.5	+	2	212	c.129C>T	c.(127-129)gtC>gtT	p.V43V	PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Intron|PLA2G15_ENST00000568599.1_3'UTR|PLA2G15_ENST00000566188.1_Splice_Site_p.V43V	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	43					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)	p.V43V(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CCCCTGCAGTCCCTGGTGATT	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											74.0	55.0	62.0					16																	68283194		2198	4300	6498	SO:0001630	splice_region_variant	23659			AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.128-1C>T	16.37:g.68283194C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Silent	SNP	ENST00000219345.5	37	CCDS10864.1																																																																																				0.557	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2		NM_012320	Silent
PLBD1	79887	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14689601	14689601	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr12:14689601T>A	ENST00000240617.5	-	5	1254	c.602A>T	c.(601-603)gAt>gTt	p.D201V		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	201					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.D201V(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						ATCCAATAGATCTCCAACACT	0.438																																																	1	Substitution - Missense(1)	kidney(1)											157.0	143.0	147.0					12																	14689601		2203	4300	6503	SO:0001583	missense	79887			BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"""PLB homolog 1 (Dictyostelium)"""					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.602A>T	12.37:g.14689601T>A	ENSP00000240617:p.Asp201Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	ENST00000240617.5	37	CCDS31751.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.558080	0.65538	.	.	ENSG00000121316	ENST00000240617	T	0.28069	1.63	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78727	-0.2091	10	0.87932	D	0	-20.9302	13.8006	0.63196	0.0:0.0:0.0:1.0	.	201	Q6P4A8	PLBL1_HUMAN	V	201	ENSP00000240617:D201V	ENSP00000240617:D201V	D	-	2	0	PLBD1	14580868	1.000000	0.71417	0.917000	0.36280	0.161000	0.22273	6.923000	0.75817	2.247000	0.74100	0.482000	0.46254	GAT		0.438	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401203.1		NM_024829	
PPIL4	85313	broad.mit.edu;hgsc.bcm.edu	37	6	149838586	149838586	+	Splice_Site	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr6:149838586C>A	ENST00000253329.2	-	11	1015	c.983G>T	c.(982-984)gGt>gTt	p.G328V	PPIL4_ENST00000340881.2_5'UTR|RNU7-3P_ENST00000516435.1_RNA	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	328	Lys-rich.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.G328V(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		GTATTTCCCACCTATTTATTA	0.299																																																	1	Substitution - Missense(1)	kidney(1)											80.0	70.0	73.0					6																	149838586		2202	4297	6499	SO:0001630	splice_region_variant	85313				CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.983-1G>T	6.37:g.149838586C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423198	0.83559	.	.	ENSG00000131013	ENST00000253329	T	0.15256	2.44	5.83	5.83	0.93111	.	0.044220	0.85682	D	0.000000	T	0.34483	0.0899	M	0.72353	2.195	0.80722	D	1	P;D	0.76494	0.839;0.999	P;D	0.63597	0.448;0.916	T	0.03212	-1.1060	10	0.59425	D	0.04	.	20.1133	0.97917	0.0:1.0:0.0:0.0	.	328;328	B3KRR4;Q8WUA2	.;PPIL4_HUMAN	V	328	ENSP00000253329:G328V	ENSP00000253329:G328V	G	-	2	0	PPIL4	149880279	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.174000	0.77620	2.766000	0.95052	0.491000	0.48974	GGT		0.299	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			Missense_Mutation
PPRC1	23082	broad.mit.edu;hgsc.bcm.edu	37	10	103899302	103899302	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr10:103899302T>A	ENST00000278070.2	+	5	1076	c.1037T>A	c.(1036-1038)cTg>cAg	p.L346Q	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.L346Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	346					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L346Q(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGCGTAGTGCTGGAGATTGTG	0.607																																																	1	Substitution - Missense(1)	kidney(1)											116.0	114.0	115.0					10																	103899302		2203	4300	6503	SO:0001583	missense	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.1037T>A	10.37:g.103899302T>A	ENSP00000278070:p.Leu346Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.197338	0.58126	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.57907	0.37;0.37	5.94	5.94	0.96194	.	0.718839	0.12941	N	0.426605	T	0.64724	0.2624	L	0.32530	0.975	0.48288	D	0.999624	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	T	0.63941	-0.6523	10	0.87932	D	0	.	14.6395	0.68714	0.0:0.0:0.0:1.0	.	346;226;346	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	Q	346	ENSP00000278070:L346Q;ENSP00000399743:L346Q	ENSP00000278070:L346Q	L	+	2	0	PPRC1	103889292	1.000000	0.71417	0.996000	0.52242	0.183000	0.23260	3.779000	0.55379	2.279000	0.76181	0.459000	0.35465	CTG		0.607	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1		NM_015062	
PRC1	9055	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	91517903	91517903	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr15:91517903A>T	ENST00000361188.5	-	10	2473	c.1262T>A	c.(1261-1263)tTt>tAt	p.F421Y	Y_RNA_ENST00000363272.1_RNA|PRC1_ENST00000361919.3_Missense_Mutation_p.F421Y|PRC1_ENST00000442656.2_Missense_Mutation_p.F380Y|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.F421Y|PRC1-AS1_ENST00000554388.1_RNA					protein regulator of cytokinesis 1									p.F421Y(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					ATTCACCATAAATGCCTTTGA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											398.0	349.0	366.0					15																	91517903		2198	4298	6496	SO:0001583	missense	9055			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1262T>A	15.37:g.91517903A>T	ENSP00000354679:p.Phe421Tyr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000361188.5	37	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.248504	0.80024	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000555455;ENST00000442656	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.84506	0.5487	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87473	0.2415	10	0.87932	D	0	-22.2588	15.6824	0.77381	1.0:0.0:0.0:0.0	.	380;421;421	O43663-3;F8W9B5;O43663	.;.;PRC1_HUMAN	Y	421;421;421;24;380	ENSP00000377793:F421Y;ENSP00000354618:F421Y;ENSP00000354679:F421Y;ENSP00000409549:F380Y	ENSP00000354679:F421Y	F	-	2	0	PRC1	89318907	1.000000	0.71417	0.808000	0.32385	0.180000	0.23129	8.220000	0.89772	2.367000	0.80283	0.528000	0.53228	TTT		0.423	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1		NM_003981	
PRDX5	25824	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64088367	64088367	+	Missense_Mutation	SNP	T	T	G	rs372183360		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr11:64088367T>G	ENST00000265462.4	+	4	597	c.469T>G	c.(469-471)Ttt>Gtt	p.F157V	TRMT112_ENST00000544844.1_5'Flank|PRDX5_ENST00000347941.4_Missense_Mutation_p.F68V|PRDX5_ENST00000352435.4_Missense_Mutation_p.F113V	NM_012094.4	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5	157	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.		F -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|inflammatory response (GO:0006954)|NADPH oxidation (GO:0070995)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|positive regulation of collagen biosynthetic process (GO:0032967)|reactive nitrogen species metabolic process (GO:2001057)|regulation of apoptosis involved in tissue homeostasis (GO:0060785)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	antioxidant activity (GO:0016209)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|peroxynitrite reductase activity (GO:0072541)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase III regulatory region DNA binding (GO:0001016)	p.F157L(1)|p.F157V(1)		breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	CACTGGGGCCTTTGGGAAGGT	0.577																																																	2	Substitution - Missense(2)	breast(1)|kidney(1)						T	VAL/PHE,VAL/PHE,VAL/PHE	0,4402		0,0,2201	124.0	141.0	136.0		469,337,202	4.7	1.0	11		136	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense	PRDX5	NM_012094.4,NM_181651.2,NM_181652.2	50,50,50	0,1,6497	GG,GT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	157/215,113/171,68/126	64088367	1,12995	2201	4297	6498	SO:0001583	missense	25824			AF197952	CCDS8069.1, CCDS8070.1, CCDS8071.1	11q13	2008-07-21			ENSG00000126432	ENSG00000126432			9355	protein-coding gene	gene with protein product	"""antioxidant enzyme B166"", ""thioredoxin peroxidase PMP20"", ""peroxisomal antioxidant enzyme"", ""TPx type VI"", ""liver tissue 2D-page spot 71B"", ""Alu co-repressor 1"""	606583				10514471, 10521424	Standard	NM_012094		Approved	ACR1, AOEB166, MGC142285, PRXV, PMP20, B166, PRDX6, PLP, SBBI10, MGC117264, MGC142283	uc001nzu.3	P30044	OTTHUMG00000168805	ENST00000265462.4:c.469T>G	11.37:g.64088367T>G	ENSP00000265462:p.Phe157Val	Somatic		WXS	Illumina HiSeq	Phase_I	A6NC19|A6NG06|B7ZLJ4|B7ZVW3|Q14CK0|Q6IAF2|Q9UBU5|Q9UJU4|Q9UKX4	Missense_Mutation	SNP	ENST00000265462.4	37	CCDS8069.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.962158	0.74016	0.0	1.16E-4	ENSG00000126432	ENST00000265462;ENST00000352435;ENST00000347941	T;T;T	0.56776	0.44;0.58;0.51	4.66	4.66	0.58398	Redoxin (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.72078	0.3416	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.998	D;D;D	0.87578	0.992;0.998;0.967	T	0.75682	-0.3233	10	0.87932	D	0	-8.0883	7.2715	0.26260	0.0:0.0999:0.0:0.9001	.	68;113;157	A6NC19;A6NG06;P30044	.;.;PRDX5_HUMAN	V	157;113;68	ENSP00000265462:F157V;ENSP00000335334:F113V;ENSP00000335363:F68V	ENSP00000265462:F157V	F	+	1	0	PRDX5	63844943	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.141000	0.50593	1.887000	0.54652	0.529000	0.55759	TTT		0.577	PRDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401148.1		NM_181651	
PRG4	10216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186275897	186275897	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr1:186275897A>G	ENST00000445192.2	+	7	1091	c.1046A>G	c.(1045-1047)gAg>gGg	p.E349G	PRG4_ENST00000367485.4_Missense_Mutation_p.E256G|PRG4_ENST00000367486.3_Missense_Mutation_p.E306G|PRG4_ENST00000367484.3_Missense_Mutation_p.E308G|PRG4_ENST00000367483.4_Missense_Mutation_p.E308G	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	349	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.E349G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACTCCCAAGGAGCCCACGCCC	0.552																																																	1	Substitution - Missense(1)	kidney(1)											140.0	147.0	144.0					1																	186275897		2203	4300	6503	SO:0001583	missense	23572			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1046A>G	1.37:g.186275897A>G	ENSP00000399679:p.Glu349Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	5.600	0.295497	0.10622	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05786	3.44;3.39;3.56;3.45;3.56	3.06	0.235	0.15431	.	.	.	.	.	T	0.04724	0.0128	L	0.32530	0.975	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.45056	-0.9287	8	.	.	.	.	5.864	0.18765	0.4105:0.4785:0.1109:0.0	.	215;256;349;308	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	G	306;308;215;308;256;349	ENSP00000356456:E306G;ENSP00000356454:E308G;ENSP00000356453:E308G;ENSP00000356455:E256G;ENSP00000399679:E349G	.	E	+	2	0	PRG4	184542520	0.028000	0.19301	0.001000	0.08648	0.079000	0.17450	3.159000	0.50731	-0.196000	0.10366	0.357000	0.21978	GAG		0.552	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1		NM_005807	
PRR13	54458	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53837461	53837461	+	Silent	SNP	A	A	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr12:53837461A>G	ENST00000429243.2	+	3	514	c.306A>G	c.(304-306)gcA>gcG	p.A102A	PRR13_ENST00000547368.1_Silent_p.A116A|PRR13_ENST00000549135.1_Silent_p.A102A|PRR13_ENST00000549740.1_Silent_p.A102A|PRR13_ENST00000379786.4_Silent_p.A52A|PCBP2_ENST00000541275.1_5'UTR|RP11-793H13.8_ENST00000547717.1_RNA|PRR13_ENST00000549924.1_Silent_p.A102A|PRR13_ENST00000549581.1_Silent_p.A52A|PRR13_ENST00000551003.1_Silent_p.A70A|PRR13_ENST00000549068.1_Missense_Mutation_p.S44G|PRR13_ENST00000546581.1_Splice_Site	NM_001005354.2|NM_018457.3	NP_001005354.1|NP_060927.1	Q9NZ81	PRR13_HUMAN	proline rich 13	102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A102A(1)|p.A52A(1)		haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(1)|urinary_tract(1)	6						TTGGACCAGCAGTGATAGTAG	0.517																																																	2	Substitution - coding silent(2)	kidney(2)											53.0	48.0	50.0					12																	53837461		2203	4300	6503	SO:0001819	synonymous_variant	54458			AF217517	CCDS31811.1, CCDS44899.1	12q13.13	2014-05-28			ENSG00000205352	ENSG00000205352			24528	protein-coding gene	gene with protein product		610459				11230166	Standard	NM_018457		Approved	FLJ23818, DKFZP564J157	uc001scz.4	Q9NZ81	OTTHUMG00000170049	ENST00000429243.2:c.306A>G	12.37:g.53837461A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q0V8U0|Q6FIG7|Q6MZP8|Q6NXQ6|Q6PKF9	Silent	SNP	ENST00000429243.2	37	CCDS44899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.105|0.105	-1.146864|-1.146864	0.01714|0.01714	.|.	.|.	ENSG00000205352|ENSG00000205352	ENST00000546581|ENST00000549068	.|.	.|.	.|.	4.04|4.04	-0.0182|-0.0182	0.13965|0.13965	.|.	.|.	.|.	.|.	.|.	.|T	.|0.27933	.|0.0688	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999998|0.999998	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.36311	.|-0.9753	.|5	.|0.87932	.|D	.|0	.|5.217	0.7208|0.7208	0.00940|0.00940	0.3818:0.1746:0.1043:0.3392|0.3818:0.1746:0.1043:0.3392	.|.	.|.	.|.	.|.	.|G	-1|44	.|.	.|ENSP00000449513:S44G	.|S	+|+	.|1	.|0	PRR13|PRR13	52123728|52123728	0.844000|0.844000	0.29557|0.29557	0.002000|0.002000	0.10522|0.10522	0.009000|0.009000	0.06853|0.06853	0.008000|0.008000	0.13197|0.13197	0.216000|0.216000	0.20781|0.20781	-0.250000|-0.250000	0.11733|0.11733	.|AGT		0.517	PRR13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407055.1		NM_018457	
PSMA2	5683	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	42964387	42964387	+	Silent	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr7:42964387C>A	ENST00000223321.4	-	4	325	c.261G>T	c.(259-261)gtG>gtT	p.V87V	PSMA2_ENST00000538645.1_Silent_p.V9V|PSMA2_ENST00000445517.1_Silent_p.V17V|PSMA2_ENST00000442788.1_Silent_p.V87V	NM_002787.4	NP_002778.1	P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	87					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to virus (GO:0009615)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)	p.V87V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						GAGCTCTGTGCACAAGCACTC	0.413																																																	2	Substitution - coding silent(2)	ovary(1)|kidney(1)											94.0	83.0	86.0					7																	42964387		2203	4300	6503	SO:0001819	synonymous_variant	5683			D00760	CCDS5467.1	7p13	2005-10-11			ENSG00000106588	ENSG00000106588		"""Proteasome (prosome, macropain) subunits"""	9531	protein-coding gene	gene with protein product		176842				2025653, 1888762	Standard	NM_002787		Approved	MU, HC3, PMSA2	uc003thy.3	P25787	OTTHUMG00000023916	ENST00000223321.4:c.261G>T	7.37:g.42964387C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ICS6|Q9BU45	Silent	SNP	ENST00000223321.4	37	CCDS5467.1																																																																																				0.413	PSMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250816.1		NM_002787	
PTPRF	5792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	44085866	44085866	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr1:44085866C>G	ENST00000359947.4	+	30	5552	c.5212C>G	c.(5212-5214)Ctg>Gtg	p.L1738V	PTPRF_ENST00000422171.2_Missense_Mutation_p.L1097V|PTPRF_ENST00000372413.3_Missense_Mutation_p.L1729V|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.L1738V|PTPRF_ENST00000438120.1_Missense_Mutation_p.L1729V	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1738	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L1728V(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATCGTCATGCTGACCAAGCT	0.617																																																	1	Substitution - Missense(1)	kidney(1)											123.0	117.0	119.0					1																	44085866		2203	4300	6503	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5212C>G	1.37:g.44085866C>G	ENSP00000353030:p.Leu1738Val	Somatic		WXS	Illumina HiSeq	Phase_I	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	19.48|19.48|19.48	3.836315|3.836315|3.836315	0.71373|0.71373|0.71373	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|.|D;D;D;D;D;D	.|.|0.89196	.|.|-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	4.97|4.97|4.97	4.97|4.97|4.97	0.65823|0.65823|0.65823	.|.|Protein-tyrosine phosphatase, receptor/non-receptor type (3);	.|.|0.000000	.|.|0.27906	.|.|N	.|.|0.017377	D|D|D	0.93562|0.93562|0.93562	0.7945|0.7945|0.7945	M|M|M	0.74546|0.74546|0.74546	2.27|2.27|2.27	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|P;D;P;D;D	.|.|0.69078	.|.|0.934;0.96;0.922;0.974;0.997	.|.|P;P;P;D;D	.|.|0.85130	.|.|0.639;0.881;0.89;0.961;0.997	D|D|D	0.93646|0.93646|0.93646	0.6969|0.6969|0.6969	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	.|.|.	13.0366|13.0366|13.0366	0.58875|0.58875|0.58875	0.0:0.9136:0.0:0.0864|0.0:0.9136:0.0:0.0864|0.0:0.9136:0.0:0.0864	.|.|.	.|.|1383;1097;1315;1729;1738	.|.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.|.;.;.;.;PTPRF_HUMAN	G|W|V	1121;1162|1383|1738;1729;1738;1729;1097;810	.|.|ENSP00000353030:L1738V;ENSP00000398822:L1729V;ENSP00000361491:L1738V;ENSP00000361490:L1729V;ENSP00000387885:L1097V;ENSP00000361484:L810V	.|.|ENSP00000353030:L1738V	A|C|L	+|+|+	2|3|1	0|2|2	PTPRF|PTPRF|PTPRF	43858453|43858453|43858453	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	4.032000|4.032000|4.032000	0.57274|0.57274|0.57274	2.700000|2.700000|2.700000	0.92200|0.92200|0.92200	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GCT|TGC|CTG		0.617	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			
PXDN	7837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	1647244	1647244	+	Missense_Mutation	SNP	C	C	G	rs534514319		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr2:1647244C>G	ENST00000252804.4	-	19	3898	c.3848G>C	c.(3847-3849)cGg>cCg	p.R1283P		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1283					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R1283P(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCTCTGCACCCGGGTGATGTT	0.627																																																	1	Substitution - Missense(1)	kidney(1)											83.0	92.0	89.0					2																	1647244		2111	4221	6332	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3848G>C	2.37:g.1647244C>G	ENSP00000252804:p.Arg1283Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693210	0.68386	.	.	ENSG00000130508	ENST00000252804	T	0.69685	-0.42	5.17	4.09	0.47781	.	0.447619	0.18810	N	0.130544	T	0.77980	0.4212	M	0.83384	2.64	0.40731	D	0.982747	P	0.52061	0.95	P	0.57911	0.829	T	0.80645	-0.1290	10	0.66056	D	0.02	-28.1783	9.5741	0.39447	0.0:0.7776:0.0:0.2224	.	1283	Q92626	PXDN_HUMAN	P	1283	ENSP00000252804:R1283P	ENSP00000252804:R1283P	R	-	2	0	PXDN	1626251	0.009000	0.17119	0.983000	0.44433	0.593000	0.36681	0.918000	0.28678	2.410000	0.81850	0.563000	0.77884	CGG		0.627	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1		XM_056455	
PZP	5858	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	9316306	9316306	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr12:9316306C>G	ENST00000261336.2	-	21	2722	c.2694G>C	c.(2692-2694)gaG>gaC	p.E898D	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Intron	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	898					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E898D(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTCTTTTAATCTCAGGGACCT	0.433																																					Melanoma(125;1402 1695 4685 34487 38571)												1	Substitution - Missense(1)	kidney(1)											118.0	106.0	110.0					12																	9316306		2203	4300	6503	SO:0001583	missense	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2694G>C	12.37:g.9316306C>G	ENSP00000261336:p.Glu898Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	4.277	0.050636	0.08243	.	.	ENSG00000126838	ENST00000261336	T	0.32753	1.44	3.85	-0.237	0.13061	.	0.113870	0.37437	U	0.002092	T	0.28400	0.0702	M	0.66378	2.025	0.31511	N	0.663571	P	0.41420	0.749	B	0.40741	0.339	T	0.29488	-1.0010	10	0.35671	T	0.21	.	8.2071	0.31463	0.0:0.4236:0.0:0.5764	.	898	P20742	PZP_HUMAN	D	898	ENSP00000261336:E898D	ENSP00000261336:E898D	E	-	3	2	PZP	9207573	0.000000	0.05858	0.048000	0.18961	0.275000	0.26752	-2.103000	0.01341	-0.170000	0.10816	-0.373000	0.07131	GAG		0.433	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1		NM_002864	
RCOR2	283248	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	63682222	63682222	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr11:63682222T>C	ENST00000301459.4	-	5	772	c.385A>G	c.(385-387)Acc>Gcc	p.T129A	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	129	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.T129A(1)		kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GGGAATGGGGTGAAGTTGGCC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											189.0	197.0	194.0					11																	63682222		2201	4297	6498	SO:0001583	missense	283248			BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.385A>G	11.37:g.63682222T>C	ENSP00000301459:p.Thr129Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923568	0.73213	.	.	ENSG00000167771	ENST00000301459	T	0.47869	0.83	4.75	4.75	0.60458	ELM2 domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	M	0.65498	2.005	0.58432	D	0.999998	P	0.38473	0.633	B	0.26969	0.075	T	0.47623	-0.9103	10	0.45353	T	0.12	.	13.5509	0.61732	0.0:0.0:0.0:1.0	.	129	Q8IZ40	RCOR2_HUMAN	A	129	ENSP00000301459:T129A	ENSP00000301459:T129A	T	-	1	0	RCOR2	63438798	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.118000	0.64673	1.897000	0.54924	0.459000	0.35465	ACC		0.587	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1		NM_173587	
RMI1	80010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	86616068	86616068	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr9:86616068G>T	ENST00000325875.3	+	3	499	c.167G>T	c.(166-168)tGg>tTg	p.W56L		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	56					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)		p.W56L(1)		biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TTTGAGCAGTGGCTCCTTACT	0.388																																																	1	Substitution - Missense(1)	kidney(1)											105.0	109.0	108.0					9																	86616068		2203	4300	6503	SO:0001583	missense	80010			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.167G>T	9.37:g.86616068G>T	ENSP00000317039:p.Trp56Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268283	0.59540	.	.	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.37584	1.19;1.19	5.86	5.86	0.93980	Domain of unknown function DUF1767 (1);	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.51325	-0.8720	10	0.22706	T	0.39	-0.1985	20.5632	0.99335	0.0:0.0:1.0:0.0	.	56	Q9H9A7	RMI1_HUMAN	L	56	ENSP00000402433:W56L;ENSP00000317039:W56L	ENSP00000317039:W56L	W	+	2	0	RMI1	85805888	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.118000	0.89577	2.937000	0.99478	0.650000	0.86243	TGG		0.388	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1		NM_024945	
RMI1	80010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	86616070	86616070	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr9:86616070C>T	ENST00000325875.3	+	3	501	c.169C>T	c.(169-171)Ctc>Ttc	p.L57F		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	57					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)		p.L57F(1)		biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TGAGCAGTGGCTCCTTACTGA	0.378																																																	1	Substitution - Missense(1)	kidney(1)											105.0	108.0	107.0					9																	86616070		2203	4300	6503	SO:0001583	missense	80010			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.169C>T	9.37:g.86616070C>T	ENSP00000317039:p.Leu57Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255887	0.59321	.	.	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.72051	-0.62;-0.62	5.86	4.03	0.46877	Domain of unknown function DUF1767 (1);	0.000000	0.64402	D	0.000001	D	0.83963	0.5368	M	0.83953	2.67	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.85665	0.1291	10	0.87932	D	0	-6.6513	12.6004	0.56494	0.0:0.8666:0.0:0.1334	.	57	Q9H9A7	RMI1_HUMAN	F	57	ENSP00000402433:L57F;ENSP00000317039:L57F	ENSP00000317039:L57F	L	+	1	0	RMI1	85805890	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	3.776000	0.55356	0.939000	0.37446	0.650000	0.86243	CTC		0.378	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1		NM_024945	
RNF114	55905	hgsc.bcm.edu;ucsc.edu	37	20	48561952	48561952	+	Missense_Mutation	SNP	A	A	G	rs143932352	byFrequency	TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr20:48561952A>G	ENST00000244061.2	+	3	327	c.325A>G	c.(325-327)Act>Gct	p.T109A		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	109					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.T109A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						CCACGTGGCTACTTGTTCCAA	0.458																																																	1	Substitution - Missense(1)	kidney(1)											161.0	130.0	140.0					20																	48561952		2203	4300	6503	SO:0001583	missense	55905			AF265215	CCDS33482.1	20q13	2013-01-09	2008-06-16	2008-06-16	ENSG00000124226	ENSG00000124226		"""RING-type (C3HC4) zinc fingers"""	13094	protein-coding gene	gene with protein product		612451	"""zinc finger protein 313"""	ZNF313		18364390	Standard	NM_018683		Approved	PSORS12	uc002xux.3	Q9Y508	OTTHUMG00000032709	ENST00000244061.2:c.325A>G	20.37:g.48561952A>G	ENSP00000244061:p.Thr109Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B2RDQ9|B4DWY5|E1P627|Q6N0B0	Missense_Mutation	SNP	ENST00000244061.2	37	CCDS33482.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.080430	0.36662	.	.	ENSG00000124226	ENST00000449816;ENST00000244061	T	0.80480	-1.38	5.97	3.59	0.41128	.	0.343160	0.35291	N	0.003308	T	0.56949	0.2020	N	0.05230	-0.09	0.23903	N	0.996517	B;B	0.18461	0.028;0.001	B;B	0.17979	0.02;0.004	T	0.41787	-0.9489	10	0.25751	T	0.34	0.1336	5.4995	0.16821	0.5885:0.0:0.0816:0.3299	.	109;109	Q9Y508-2;Q9Y508	.;RN114_HUMAN	A	109	ENSP00000244061:T109A	ENSP00000244061:T109A	T	+	1	0	RNF114	47995359	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	1.240000	0.32731	1.039000	0.40074	0.477000	0.44152	ACT		0.458	RNF114-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079663.1		NM_018683	
RPIA	22934	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	89036070	89036070	+	Silent	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr2:89036070C>T	ENST00000283646.4	+	7	670	c.615C>T	c.(613-615)ctC>ctT	p.L205L		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	205					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)	p.L205L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				CGAAGAATCTCGGGGATCAGT	0.483																																																	1	Substitution - coding silent(1)	kidney(1)											82.0	85.0	84.0					2																	89036070		1932	4145	6077	SO:0001819	synonymous_variant	22934			L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.615C>T	2.37:g.89036070C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q541P9|Q96BJ6	Silent	SNP	ENST00000283646.4	37	CCDS2004.2																																																																																				0.483	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2			
RRP15	51018	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	218458677	218458677	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr1:218458677G>C	ENST00000366932.3	+	1	49	c.19G>C	c.(19-21)Gac>Cac	p.D7H		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	7						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.D7H(1)	ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		CGCCGCTCCGGACTCACGTGT	0.547																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	51018				CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"""KIAA0507"""	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.19G>C	1.37:g.218458677G>C	ENSP00000355899:p.Asp7His	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000366932.3	37	CCDS1520.2	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785257	0.31593	.	.	ENSG00000067533	ENST00000366932	T	0.30448	1.53	4.12	-1.07	0.09968	.	0.769527	0.12169	N	0.493200	T	0.20414	0.0491	L	0.27053	0.805	0.09310	N	1	B	0.28512	0.214	B	0.31751	0.135	T	0.27262	-1.0079	10	0.62326	D	0.03	0.0582	7.4208	0.27071	0.5586:0.0:0.4414:0.0	.	7	Q9Y3B9	RRP15_HUMAN	H	7	ENSP00000355899:D7H	ENSP00000355899:D7H	D	+	1	0	RRP15	216525300	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.220000	0.17660	-0.199000	0.10317	-0.827000	0.03088	GAC		0.547	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095284.1		NM_016052	
SAMD14	201191	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48191795	48191795	+	Intron	SNP	G	G	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr17:48191795G>T	ENST00000330175.4	-	8	1140				SAMD14_ENST00000503734.1_5'Flank|SAMD14_ENST00000503131.1_Missense_Mutation_p.L278M	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14									p.L278M(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GCATGAGCCAGGAGCTGGGCC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											45.0	38.0	40.0					17																	48191795		2203	4300	6503	SO:0001627	intron_variant	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.823-125C>A	17.37:g.48191795G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	37	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393533	0.25205	.	.	ENSG00000167100	ENST00000503131	.	.	.	3.75	1.58	0.23477	.	3.951410	0.01119	U	0.005753	T	0.32912	0.0845	.	.	.	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.21314	-1.0249	8	0.48119	T	0.1	4.657	6.1982	0.20561	0.0:0.2092:0.5749:0.2158	.	278	Q8IZD0-2	.	M	278	.	ENSP00000424474:L278M	L	-	1	2	SAMD14	45546794	0.000000	0.05858	0.279000	0.24732	0.374000	0.29953	-0.200000	0.09478	0.315000	0.23110	0.561000	0.74099	CTG		0.587	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1		NM_174920	
SCLT1	132320	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	129812271	129812271	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr4:129812271T>G	ENST00000281142.5	-	19	2354	c.1851A>C	c.(1849-1851)aaA>aaC	p.K617N	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Missense_Mutation_p.K213N|SCLT1_ENST00000434680.1_Missense_Mutation_p.K236N|SCLT1_ENST00000439369.2_Missense_Mutation_p.K104N	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	617					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)	p.K617N(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GGGTATGAAGTTTCTGTCGAC	0.398																																																	2	Substitution - Missense(2)	kidney(2)											116.0	109.0	112.0					4																	129812271		2203	4300	6503	SO:0001583	missense	132320			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1851A>C	4.37:g.129812271T>G	ENSP00000281142:p.Lys617Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.090111	0.36855	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000439369;ENST00000503215	T;T;T	0.55760	0.5;2.94;2.94	4.13	2.95	0.34219	.	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	L	0.29908	0.895	0.19945	N	0.999949	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.994;0.996;0.991	T	0.38866	-0.9641	9	.	.	.	-23.2199	7.408	0.27001	0.0:0.1039:0.0:0.8961	.	104;236;617;213	Q96NL6-3;Q96NL6-2;Q96NL6;D6RBP0	.;.;SCLT1_HUMAN;.	N	617;236;104;213	ENSP00000281142:K617N;ENSP00000401539:K236N;ENSP00000424029:K213N	.	K	-	3	2	SCLT1	130031721	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.680000	0.46918	0.762000	0.33152	0.477000	0.44152	AAA		0.398	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2		NM_144643	
SDF4	51150	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	1153053	1153053	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr1:1153053T>C	ENST00000360001.6	-	7	1190	c.928A>G	c.(928-930)Atg>Gtg	p.M310V	SDF4_ENST00000263741.7_Silent_p.P348P			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	310	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Necessary for intracellular retention in Golgi apparatus lumen. {ECO:0000250}.				calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)	p.M310V(1)|p.P348P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TACTCGTTCATGGGGTCCATG	0.637																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)											137.0	139.0	138.0					1																	1153053		2203	4300	6503	SO:0001583	missense	51150				CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.928A>G	1.37:g.1153053T>C	ENSP00000353094:p.Met310Val	Somatic		WXS	Illumina HiSeq	Phase_I	B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Missense_Mutation	SNP	ENST00000360001.6	37	CCDS30553.1	.	.	.	.	.	.	.	.	.	.	t	14.94	2.685018	0.47991	.	.	ENSG00000078808	ENST00000360001	T	0.08720	3.06	5.33	2.86	0.33363	EF-hand-like domain (1);	0.076117	0.85682	D	0.000000	T	0.07683	0.0193	.	.	.	0.80722	D	1	B	0.22851	0.076	B	0.24394	0.053	T	0.25745	-1.0123	9	0.33141	T	0.24	-28.1149	11.2631	0.49095	0.0:0.0:0.2915:0.7085	.	310	Q9BRK5	CAB45_HUMAN	V	310	ENSP00000353094:M310V	ENSP00000353094:M310V	M	-	1	0	SDF4	1142916	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.940000	0.70187	0.283000	0.22279	0.392000	0.25879	ATG		0.637	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1		NM_016176	
SEC16A	9919	hgsc.bcm.edu;ucsc.edu	37	9	139369004	139369006	+	In_Frame_Del	DEL	TTT	TTT	-	rs377041553		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	TTT	TTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr9:139369004_139369006delTTT	ENST00000371706.3	-	1	2561_2563	c.2528_2530delAAA	c.(2527-2532)caaagt>cgt	p.843_844QS>R	SEC16A_ENST00000290037.6_In_Frame_Del_p.843_844QS>R|SEC16A_ENST00000431893.2_In_Frame_Del_p.843_844QS>R|SEC16A_ENST00000313050.7_In_Frame_Del_p.1021_1022QS>R			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	843					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTGGCAACACTTTGCTGAGAAGC	0.532																																																	0																																										SO:0001651	inframe_deletion	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2528_2530delAAA	9.37:g.139369004_139369006delTTT	ENSP00000360771:p.Gln843_Ser844delinsArg	Somatic		WXS	Illumina HiSeq	Phase_I	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	In_Frame_Del	DEL	ENST00000371706.3	37																																																																																					0.532	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1		XM_088459	
SHROOM3	57619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	77677855	77677855	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr4:77677855G>A	ENST00000296043.6	+	8	5916	c.4963G>A	c.(4963-4965)Gtc>Atc	p.V1655I	RP11-359D14.3_ENST00000449007.1_RNA|RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1655					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.V1654I(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGAAAAGAAAGTCAGTCCTGA	0.498																																																	1	Substitution - Missense(1)	kidney(1)											77.0	81.0	80.0					4																	77677855		2203	4300	6503	SO:0001583	missense	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4963G>A	4.37:g.77677855G>A	ENSP00000296043:p.Val1655Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793484	0.50102	.	.	ENSG00000138771	ENST00000296043;ENST00000264907	T	0.19669	2.13	4.75	2.98	0.34508	.	2.740240	0.01184	N	0.007170	T	0.18635	0.0447	L	0.46157	1.445	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.22695	-1.0209	10	0.24483	T	0.36	-3.2336	0.8649	0.01201	0.3166:0.1552:0.3685:0.1597	.	1655	Q8TF72	SHRM3_HUMAN	I	1655;132	ENSP00000296043:V1655I	ENSP00000264907:V132I	V	+	1	0	SHROOM3	77896879	0.007000	0.16637	0.012000	0.15200	0.954000	0.61252	0.360000	0.20250	0.688000	0.31529	0.585000	0.79938	GTC		0.498	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2		NM_020859	
SIGLEC1	6614	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	3677901	3677901	+	Silent	SNP	G	G	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr20:3677901G>C	ENST00000344754.4	-	9	2210	c.2211C>G	c.(2209-2211)ggC>ggG	p.G737G	SIGLEC1_ENST00000202578.4_Silent_p.G737G	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	737	Ig-like C2-type 7.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.G737G(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TAGCAGGGCTGCCAGCAGCTT	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											88.0	83.0	85.0					20																	3677901		2203	4300	6503	SO:0001819	synonymous_variant	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2211C>G	20.37:g.3677901G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	CCDS13060.1																																																																																				0.617	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2		NM_023068	
SIX6	4990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	60977812	60977812	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr14:60977812C>G	ENST00000327720.5	+	2	1031	c.583C>G	c.(583-585)Cag>Gag	p.Q195E		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	195					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.Q195E(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		ACTCCAGCAGCAGGTCCTGTC	0.711																																																	1	Substitution - Missense(1)	kidney(1)											15.0	16.0	16.0					14																	60977812		2173	4255	6428	SO:0001583	missense	4990			AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"""Homeoboxes / SINE class"""	10892	protein-coding gene	gene with protein product		606326	"""sine oculis homeobox (Drosophila) homolog 6"", ""sine oculis homeobox homolog 6 (Drosophila)"""	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.583C>G	14.37:g.60977812C>G	ENSP00000328596:p.Gln195Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6NT42|Q9P1X8	Missense_Mutation	SNP	ENST00000327720.5	37	CCDS9747.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095899	0.56075	.	.	ENSG00000184302	ENST00000327720	D	0.91011	-2.77	5.39	5.39	0.77823	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	L	0.48642	1.525	0.80722	D	1	B	0.25521	0.128	B	0.25987	0.065	T	0.82123	-0.0613	10	0.07644	T	0.81	.	18.3173	0.90225	0.0:1.0:0.0:0.0	.	195	O95475	SIX6_HUMAN	E	195	ENSP00000328596:Q195E	ENSP00000328596:Q195E	Q	+	1	0	SIX6	60047565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.434000	0.80377	2.791000	0.96007	0.655000	0.94253	CAG		0.711	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276952.2			
SLC12A7	10723	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	1073766	1073766	+	Silent	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr5:1073766C>T	ENST00000264930.5	-	17	2266	c.2223G>A	c.(2221-2223)gaG>gaA	p.E741E		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	741					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.E741E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCCGCTGAGCCTCCATGTGCT	0.687																																																	1	Substitution - coding silent(1)	kidney(1)											50.0	56.0	54.0					5																	1073766		2201	4298	6499	SO:0001819	synonymous_variant	10723			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2223G>A	5.37:g.1073766C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	c	0.122	-1.124751	0.01770	.	.	ENSG00000113504	ENST00000513223	.	.	.	4.04	1.14	0.20703	.	.	.	.	.	T	0.55784	0.1942	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48210	-0.9055	4	.	.	.	.	8.5362	0.33364	0.0:0.6333:0.0:0.3667	.	.	.	.	S	99	.	.	G	-	1	0	SLC12A7	1126766	1.000000	0.71417	0.583000	0.28640	0.004000	0.04260	1.913000	0.39956	0.290000	0.22444	-0.373000	0.07131	GGC		0.687	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2		NM_006598	
SLC22A10	387775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	63059039	63059039	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr11:63059039C>A	ENST00000332793.6	+	2	432	c.430C>A	c.(430-432)Ctg>Atg	p.L144M	SLC22A10_ENST00000526800.1_Missense_Mutation_p.L92M|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000535888.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	144						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.L144M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	TTATCAGTCACTGAAATCAGT	0.468																																																	1	Substitution - Missense(1)	kidney(1)											154.0	151.0	152.0					11																	63059039		2099	4259	6358	SO:0001583	missense	387775			AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.430C>A	11.37:g.63059039C>A	ENSP00000327569:p.Leu144Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011755	0.35511	.	.	ENSG00000184999	ENST00000332793;ENST00000526800	T;T	0.79554	-1.28;-1.28	3.17	1.25	0.21368	Major facilitator superfamily domain (1);	0.405345	0.21834	U	0.068429	D	0.84696	0.5529	M	0.73962	2.25	0.09310	N	1	P;D	0.89917	0.73;1.0	B;D	0.80764	0.366;0.994	T	0.72286	-0.4338	10	0.44086	T	0.13	.	2.9094	0.05732	0.2163:0.5344:0.0:0.2492	.	92;144	E9PJB1;Q63ZE4	.;S22AA_HUMAN	M	144;92	ENSP00000327569:L144M;ENSP00000433908:L92M	ENSP00000327569:L144M	L	+	1	2	SLC22A10	62815615	0.000000	0.05858	0.001000	0.08648	0.098000	0.18820	-0.205000	0.09411	0.214000	0.20742	-0.249000	0.11873	CTG		0.468	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3		NM_001039752	
SLC32A1	140679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	37356752	37356752	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr20:37356752C>T	ENST00000217420.1	+	2	1311	c.1048C>T	c.(1048-1050)Ctc>Ttc	p.L350F		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	350					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.L350F(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AGCCTGCGTGCTCAAGGGCCT	0.617																																																	1	Substitution - Missense(1)	kidney(1)											71.0	63.0	66.0					20																	37356752		2203	4300	6503	SO:0001583	missense	140679			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1048C>T	20.37:g.37356752C>T	ENSP00000217420:p.Leu350Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	C	8.999	0.979629	0.18812	.	.	ENSG00000101438	ENST00000217420	T	0.02974	4.09	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.02380	0.0073	N	0.10972	0.075	0.80722	D	1	B	0.23442	0.085	B	0.29440	0.102	T	0.61068	-0.7137	10	0.24483	T	0.36	-28.0493	15.0612	0.71955	0.0:1.0:0.0:0.0	.	350	Q9H598	VIAAT_HUMAN	F	350	ENSP00000217420:L350F	ENSP00000217420:L350F	L	+	1	0	SLC32A1	36790166	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.756000	0.85195	2.239000	0.73571	0.462000	0.41574	CTC		0.617	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1		NM_080552	
SMARCA4	6597	hgsc.bcm.edu;ucsc.edu	37	19	11100029	11100030	+	In_Frame_Ins	INS	-	-	GAA	rs201099398		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr19:11100029_11100030insGAA	ENST00000429416.3	+	8	1436_1437	c.1155_1156insGAA	c.(1156-1158)gaa>GAAgaa	p.386_386E>EE	SMARCA4_ENST00000450717.3_In_Frame_Ins_p.386_386E>EE|SMARCA4_ENST00000589677.1_In_Frame_Ins_p.386_386E>EE|SMARCA4_ENST00000444061.3_In_Frame_Ins_p.386_386E>EE|SMARCA4_ENST00000344626.4_In_Frame_Ins_p.386_386E>EE|SMARCA4_ENST00000541122.2_In_Frame_Ins_p.386_386E>EE|SMARCA4_ENST00000590574.1_In_Frame_Ins_p.386_386E>EE|SMARCA4_ENST00000358026.2_In_Frame_Ins_p.386_386E>EE|SMARCA4_ENST00000413806.3_In_Frame_Ins_p.386_386E>EE	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	386					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTCAGGAACTTGAAAACCTTCC	0.604			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)																																								SO:0001652	inframe_insertion	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1156_1158dupGAA	19.37:g.11100030_11100032dupGAA	ENSP00000395654:p.Glu386dup	Somatic		WXS	Illumina HiSeq	Phase_I	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	In_Frame_Ins	INS	ENST00000429416.3	37	CCDS12253.1																																																																																				0.604	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		NM_003072	
SSPO	23145	hgsc.bcm.edu	37	7	149476666	149476667	+	RNA	INS	-	-	C	rs57553723|rs397826817		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr7:149476666_149476667insC	ENST00000378016.2	+	0	1116_1117							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCTGTGACAGCCCCTGGGGCT	0.619													CCCCC|CCCC|CCCCC|deletion	5008	1.0	1.0	1.0	5008	,	,		19212	1.0		1.0	False		,,,				2504	1.0																0										3874,6		1934,6,0						2.6	0.0		dbSNP_130	30	7955,15		3971,13,1	no	frameshift	SSPO	NM_198455.2		5905,19,1	A1A1,A1R,RR		0.1882,0.1546,0.1772				11829,21						23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149476670_149476670dupC		Somatic		WXS	Illumina HiSeq	Phase_I	Q76B61	Frame_Shift_Ins	INS	ENST00000378016.2	37																																																																																					0.619	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				
STAT3	6774	broad.mit.edu;hgsc.bcm.edu	37	17	40476790	40476790	+	Silent	SNP	G	G	A	rs1064115		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr17:40476790G>A	ENST00000264657.5	-	17	1851	c.1539C>T	c.(1537-1539)tcC>tcT	p.S513S	STAT3_ENST00000588969.1_Silent_p.S513S|STAT3_ENST00000585517.1_Silent_p.S513S|STAT3_ENST00000389272.3_Silent_p.S415S|STAT3_ENST00000404395.3_Silent_p.S513S	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	513					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S513S(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TGGTGGTGGAGGAGAACTGCC	0.542									Hyperimmunoglobulin E Recurrent Infection Syndrome																																								1	Substitution - coding silent(1)	kidney(1)											86.0	80.0	82.0					17																	40476790		2203	4300	6503	SO:0001819	synonymous_variant	6774	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1539C>T	17.37:g.40476790G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K7B8|K7ENL3|O14916|Q9BW54	Silent	SNP	ENST00000264657.5	37	CCDS32656.1																																																																																				0.542	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3		NM_139276, NM_003150	
TENC1	23371	broad.mit.edu;ucsc.edu	37	12	53453510	53453510	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr12:53453510G>C	ENST00000314250.6	+	18	2375	c.2085G>C	c.(2083-2085)gaG>gaC	p.E695D	TENC1_ENST00000552570.1_Missense_Mutation_p.E695D|TENC1_ENST00000451358.1_Intron|TENC1_ENST00000314276.3_Missense_Mutation_p.E705D|TENC1_ENST00000549700.1_Missense_Mutation_p.E695D|TENC1_ENST00000379902.3_Missense_Mutation_p.E571D|TENC1_ENST00000546602.1_Missense_Mutation_p.E695D	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	695					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.E695D(1)|p.E705D(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CCTGCGAGGAGAAGCTGGCGC	0.662																																																	2	Substitution - Missense(2)	kidney(2)											37.0	36.0	37.0					12																	53453510		2203	4297	6500	SO:0001583	missense	23371			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.2085G>C	12.37:g.53453510G>C	ENSP00000319684:p.Glu695Asp	Somatic		WXS	Illumina GAIIx	Phase_I	A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	7.931	0.740693	0.15642	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D	0.94497	-3.43;-3.43;-3.43;-3.42;-3.43;-3.44	4.54	1.74	0.24563	.	0.254563	0.33610	N	0.004735	D	0.90188	0.6933	N	0.19112	0.55	0.80722	D	1	D;D;P;D	0.56287	0.958;0.958;0.93;0.975	P;P;P;P	0.53062	0.681;0.681;0.482;0.717	D	0.84840	0.0807	10	0.25751	T	0.34	.	6.9122	0.24340	0.2835:0.0:0.7165:0.0	.	695;695;695;705	Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;TENC1_HUMAN;.	D	571;705;695;695;695;695	ENSP00000369232:E571D;ENSP00000319756:E705D;ENSP00000319684:E695D;ENSP00000449363:E695D;ENSP00000447021:E695D;ENSP00000449361:E695D	ENSP00000319684:E695D	E	+	3	2	TENC1	51739777	0.996000	0.38824	1.000000	0.80357	0.523000	0.34469	1.167000	0.31847	0.277000	0.22141	-1.008000	0.02478	GAG		0.662	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1		NM_170754	
TFPI	7035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	188349545	188349545	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr2:188349545T>G	ENST00000233156.3	-	5	822	c.528A>C	c.(526-528)gaA>gaC	p.E176D	AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000409676.1_Missense_Mutation_p.E176D|TFPI_ENST00000339091.4_Missense_Mutation_p.E176D|TFPI_ENST00000392365.1_Missense_Mutation_p.E176D|AC007319.1_ENST00000453517.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	176					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E176D(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	TACGACCATCTTCACAAATGT	0.343																																																	2	Substitution - Missense(2)	kidney(2)											109.0	106.0	107.0					2																	188349545		2202	4298	6500	SO:0001583	missense	7035				CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.528A>C	2.37:g.188349545T>G	ENSP00000233156:p.Glu176Asp	Somatic		WXS	Illumina HiSeq	Phase_I	O95103|Q53TS4	Missense_Mutation	SNP	ENST00000233156.3	37	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.814837	0.32053	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055;ENST00000435414;ENST00000409676;ENST00000339091	T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38	5.71	-2.35	0.06684	Proteinase inhibitor I2, Kunitz metazoa (3);	0.296964	0.37304	N	0.002151	T	0.34193	0.0889	L	0.43701	1.375	0.09310	N	1	B;B	0.20368	0.015;0.044	B;B	0.23150	0.012;0.044	T	0.26985	-1.0087	10	0.13470	T	0.59	.	6.5523	0.22442	0.1328:0.2755:0.0:0.5917	.	176;176	P10646-2;P10646	.;TFPI1_HUMAN	D	176;176;176;163;176;176	ENSP00000376172:E176D;ENSP00000233156:E176D;ENSP00000397248:E176D;ENSP00000409177:E163D;ENSP00000386344:E176D;ENSP00000342306:E176D	ENSP00000233156:E176D	E	-	3	2	TFPI	188057790	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.391000	0.07323	-0.533000	0.06323	-0.467000	0.05162	GAA		0.343	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1		NM_006287	
THRA	7067	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	38243108	38243108	+	Splice_Site	SNP	T	T	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr17:38243108T>A	ENST00000264637.4	+	7	1303		c.e7+2		THRA_ENST00000450525.2_Splice_Site|THRA_ENST00000584985.1_Splice_Site|THRA_ENST00000394121.4_Splice_Site|THRA_ENST00000546243.1_Splice_Site	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha						cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.?(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCTCCGAGGTGAGTGGCAGA	0.567											OREG0024390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Unknown(2)	kidney(2)											130.0	101.0	111.0					17																	38243108		2203	4300	6503	SO:0001630	splice_region_variant	7067			J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.723+2T>A	17.37:g.38243108T>A		Somatic	876	WXS	Illumina HiSeq	Phase_I	A8K3B5|P21205|Q8N6A1|Q96H73	Splice_Site	SNP	ENST00000264637.4	37	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.192559	0.58017	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3566	0.60631	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	THRA	35496634	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	7.842000	0.86851	1.963000	0.57068	0.477000	0.44152	.		0.567	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			Intron
THSD7B	80731	hgsc.bcm.edu;ucsc.edu	37	2	138208421	138208421	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr2:138208421T>G	ENST00000409968.1	+	15	3144	c.2966T>G	c.(2965-2967)aTt>aGt	p.I989S	THSD7B_ENST00000413152.2_Missense_Mutation_p.I958S|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.I989S			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	989	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.I958S(1)|p.I989S(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)		TCAGGTTACATTCAAGAAAAA	0.353																																																	2	Substitution - Missense(2)	kidney(2)											95.0	89.0	91.0					2																	138208421		1838	4099	5937	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.2966T>G	2.37:g.138208421T>G	ENSP00000387145:p.Ile989Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	T	11.50	1.656973	0.29425	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.59772	0.24;0.24;0.24	5.53	5.53	0.82687	.	0.319686	0.30151	N	0.010287	T	0.59074	0.2167	M	0.65498	2.005	0.80722	D	1	B	0.26775	0.159	B	0.36418	0.224	T	0.55153	-0.8185	10	0.09590	T	0.72	.	15.7104	0.77623	0.0:0.0:0.0:1.0	.	958	C9JKN6	.	S	989;989;958	ENSP00000387145:I989S;ENSP00000272643:I989S;ENSP00000413841:I958S	ENSP00000272643:I989S	I	+	2	0	THSD7B	137924891	1.000000	0.71417	0.997000	0.53966	0.224000	0.24922	6.137000	0.71710	2.112000	0.64535	0.529000	0.55759	ATT		0.353	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2		XM_046570.9	
TMEM54	113452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	33360935	33360935	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr1:33360935G>A	ENST00000373463.3	-	5	684	c.565C>T	c.(565-567)Ccc>Tcc	p.P189S	TMEM54_ENST00000475208.1_5'UTR|TMEM54_ENST00000329151.5_Missense_Mutation_p.P136S	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	189						integral component of membrane (GO:0016021)		p.P189S(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCCCACCAGGGCCTCAGCTCC	0.637																																																	1	Substitution - Missense(1)	kidney(1)											59.0	46.0	50.0					1																	33360935		2203	4300	6503	SO:0001583	missense	113452				CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.565C>T	1.37:g.33360935G>A	ENSP00000362562:p.Pro189Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UV18|Q8IVD0|Q9UM12	Missense_Mutation	SNP	ENST00000373463.3	37	CCDS371.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451256	0.84209	.	.	ENSG00000121900	ENST00000373463;ENST00000329151	T;T	0.48522	0.81;0.81	5.38	5.38	0.77491	.	0.098003	0.64402	D	0.000001	T	0.66458	0.2791	M	0.75777	2.31	0.45129	D	0.998147	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.71870	0.943;0.975;0.966	T	0.69057	-0.5246	10	0.72032	D	0.01	.	12.4798	0.55836	0.0812:0.0:0.9188:0.0	.	169;136;189	Q969K7-2;Q969K7-3;Q969K7	.;.;TMM54_HUMAN	S	189;136	ENSP00000362562:P189S;ENSP00000328630:P136S	ENSP00000328630:P136S	P	-	1	0	TMEM54	33133522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.489000	0.60309	2.712000	0.92718	0.650000	0.86243	CCC		0.637	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011474.1		NM_033504	
TRDN	10345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	123545248	123545248	+	Silent	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr6:123545248C>T	ENST00000398178.3	-	39	2025	c.2004G>A	c.(2002-2004)aaG>aaA	p.K668K	TRDN_ENST00000334268.4_Silent_p.K660K	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	668					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.K668K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CTTTAGCTTTCTTTGAAGCTG	0.328																																																	1	Substitution - coding silent(1)	kidney(1)											86.0	83.0	84.0					6																	123545248		1818	4080	5898	SO:0001819	synonymous_variant	10345			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.2004G>A	6.37:g.123545248C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A5D6W5|F5H2W7|Q6NSB8	Silent	SNP	ENST00000398178.3	37	CCDS55053.1																																																																																				0.328	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179481863	179481863	+	Silent	SNP	G	G	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr2:179481863G>T	ENST00000591111.1	-	205	43160	c.42936C>A	c.(42934-42936)acC>acA	p.T14312T	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.T13385T|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342175.6_Silent_p.T7080T|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.T7013T|TTN_ENST00000460472.2_Silent_p.T6888T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.T15953T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14312	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T13385T(2)|p.T6888T(1)|p.T7080T(1)|p.T7013T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCGTCAGCGGTGAGAGGAC	0.373																																																	5	Substitution - coding silent(5)	kidney(5)											57.0	56.0	56.0					2																	179481863		1856	4094	5950	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42936C>A	2.37:g.179481863G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
UGT2A1	10941	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	70464995	70464995	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr4:70464995A>C	ENST00000503640.1	-	2	888	c.833T>G	c.(832-834)tTg>tGg	p.L278W	UGT2A1_ENST00000512704.1_Missense_Mutation_p.L278W|UGT2A1_ENST00000514019.1_Missense_Mutation_p.L488W|UGT2A1_ENST00000286604.4_Missense_Mutation_p.L322W|UGT2A2_ENST00000457664.2_Missense_Mutation_p.L287W|UGT2A1_ENST00000502343.1_5'UTR	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	278					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.L287W(1)|p.L278W(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTGCAGTGCAATCCTCCAAC	0.348																																																	2	Substitution - Missense(2)	kidney(2)											66.0	62.0	63.0					4																	70464995		2203	4300	6503	SO:0001583	missense	10941			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.833T>G	4.37:g.70464995A>C	ENSP00000424478:p.Leu278Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.358787	0.61403	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.68331	-0.1;-0.1;-0.32;-0.32;-0.18	4.64	4.64	0.57946	.	0.153399	0.40302	N	0.001126	D	0.85544	0.5721	H	0.94582	3.555	.	.	.	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.989;0.996;0.979;0.999;1.0	D	0.91186	0.4980	9	0.87932	D	0	.	12.3396	0.55087	1.0:0.0:0.0:0.0	.	488;488;278;287;278	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	W	287;278;278;488;322	ENSP00000387888:L287W;ENSP00000424478:L278W;ENSP00000421432:L278W;ENSP00000425497:L488W;ENSP00000286604:L322W	ENSP00000286604:L322W	L	-	2	0	UGT2A1	70499584	1.000000	0.71417	0.992000	0.48379	0.706000	0.40770	8.783000	0.91813	2.069000	0.61940	0.460000	0.39030	TTG		0.348	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3		NM_006798	
USH2A	7399	broad.mit.edu;hgsc.bcm.edu	37	1	215820889	215820889	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr1:215820889C>T	ENST00000307340.3	-	67	15152	c.14766G>A	c.(14764-14766)tgG>tgA	p.W4922*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.W4922*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4922	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.W4922*(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAAACTGATCCACTCGGAAG	0.542										HNSCC(13;0.011)																																							2	Substitution - Nonsense(2)	lung(1)|kidney(1)											94.0	76.0	82.0					1																	215820889		2203	4300	6503	SO:0001587	stop_gained	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14766G>A	1.37:g.215820889C>T	ENSP00000305941:p.Trp4922*	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	57	27.957722	0.99972	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.62	5.62	0.85841	.	0.000000	0.41396	D	0.000898	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	19.2851	0.94067	0.0:1.0:0.0:0.0	.	.	.	.	X	4922	.	ENSP00000305941:W4922X	W	-	3	0	USH2A	213887512	1.000000	0.71417	0.942000	0.38095	0.856000	0.48823	7.306000	0.78905	2.648000	0.89879	0.650000	0.86243	TGG		0.542	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188204	10188205	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	TT	TT	TT	-	TT	TT	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr3:10188204_10188205delTT	ENST00000256474.2	+	2	1187_1188	c.347_348delTT	c.(346-348)cttfs	p.L116fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	116	Involved in binding to CCT complex.		L -> V (in VHLD). {ECO:0000269|PubMed:8730290}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(2)|p.W117fs*14(2)|p.L116L(1)|p.H115fs*15(1)|p.W117fs*40(1)|p.W117fs*42(1)|p.H115fs*41(1)|p.H115fs*42(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ATAGGTCACCTTTGGCTCTTCA	0.525		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	10	Deletion - Frameshift(7)|Unknown(2)|Substitution - coding silent(1)	kidney(10)																																								SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.347_348delTT	3.37:g.10188204_10188205delTT	ENSP00000256474:p.Leu116fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.525	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VPS13D	55187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	12409404	12409404	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr1:12409404T>G	ENST00000358136.3	+	46	9534	c.9404T>G	c.(9403-9405)aTg>aGg	p.M3135R	VPS13D_ENST00000356315.4_Missense_Mutation_p.M3110R	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.M3135R(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGCCACTCTATGGACACAGAA	0.398																																																	1	Substitution - Missense(1)	kidney(1)											84.0	87.0	86.0					1																	12409404		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9404T>G	1.37:g.12409404T>G	ENSP00000350854:p.Met3135Arg	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.95|14.95	2.688239|2.688239	0.48097|0.48097	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.51325|.	0.72;0.71|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.129815|.	0.64402|.	D|.	0.000001|.	T|T	0.48804|0.48804	0.1520|0.1520	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;B|.	0.22683|.	0.073;0.028|.	B;B|.	0.16722|.	0.015;0.016|.	T|T	0.45862|0.45862	-0.9232|-0.9232	10|5	0.15066|.	T|.	0.55|.	.|.	16.0421|16.0421	0.80691|0.80691	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3110;3134|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	R|G	3110;3135|1957	ENSP00000348666:M3110R;ENSP00000350854:M3135R|.	ENSP00000348666:M3110R|.	M|W	+|+	2|1	0|0	VPS13D|VPS13D	12331991|12331991	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.996000|0.996000	0.88848|0.88848	4.142000|4.142000	0.58044|0.58044	2.242000|2.242000	0.73789|0.73789	0.533000|0.533000	0.62120|0.62120	ATG|TGG		0.398	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378	
ZC3HC1	51530	hgsc.bcm.edu;ucsc.edu	37	7	129663471	129663471	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr7:129663471delG	ENST00000358303.4	-	8	1197	c.1113delC	c.(1111-1113)cccfs	p.P371fs	ZC3HC1_ENST00000481503.1_Frame_Shift_Del_p.P328fs|RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000311873.5_Frame_Shift_Del_p.P350fs|ZC3HC1_ENST00000360708.5_Intron|RP11-306G20.1_ENST00000587038.1_RNA	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	371					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					TTCTGGTGGTGGGGCTAGCAG	0.612																																					Melanoma(115;540 1606 16325 28853 48167)												0													113.0	97.0	102.0					7																	129663471		2203	4300	6503	SO:0001589	frameshift_variant	51530			AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.1113delC	7.37:g.129663471delG	ENSP00000351052:p.Pro371fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Frame_Shift_Del	DEL	ENST00000358303.4	37	CCDS34753.1																																																																																				0.612	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1		NM_016478	
ZMYM2	7750	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	20567391	20567391	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr13:20567391T>A	ENST00000382874.2	+	4	369	c.179T>A	c.(178-180)gTt>gAt	p.V60D	ZMYM2_ENST00000382881.3_Missense_Mutation_p.V60D|ZMYM2_ENST00000382871.2_Missense_Mutation_p.V60D|ZMYM2_ENST00000382869.3_Missense_Mutation_p.V60D	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	60					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.V60D(2)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GATGATGATGTTGTTTTTATC	0.383																																																	2	Substitution - Missense(2)	kidney(2)											110.0	103.0	105.0					13																	20567391		1964	4170	6134	SO:0001583	missense	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.179T>A	13.37:g.20567391T>A	ENSP00000372327:p.Val60Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.881121	0.72294	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.16	5.16	0.70880	.	0.000000	0.49305	D	0.000146	T	0.53318	0.1789	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.47156	-0.9139	10	0.13853	T	0.58	-0.3003	15.2831	0.73806	0.0:0.0:0.0:1.0	.	60;60;60	A8K126;Q9UBW7;Q9UBW7-2	.;ZMYM2_HUMAN;.	D	60	ENSP00000372322:V60D;ENSP00000372334:V60D;ENSP00000372327:V60D;ENSP00000372324:V60D	ENSP00000372322:V60D	V	+	2	0	ZMYM2	19465391	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.100000	0.71473	2.069000	0.61940	0.533000	0.62120	GTT		0.383	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2		NM_003453	
ZNF77	58492	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2934740	2934740	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr19:2934740G>C	ENST00000314531.4	-	4	477	c.385C>G	c.(385-387)Ctt>Gtt	p.L129V		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	129					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.L129V(1)|p.L129fs*11(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCACAAGAAGGTTCGCAGTC	0.493																																																	2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|kidney(1)											139.0	126.0	130.0					19																	2934740		2203	4300	6503	SO:0001583	missense	58492			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.385C>G	19.37:g.2934740G>C	ENSP00000319053:p.Leu129Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	G	6.267	0.417464	0.11870	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.26957	1.7	2.58	1.53	0.23141	.	.	.	.	.	T	0.37019	0.0988	L	0.60957	1.885	0.09310	N	1	D	0.65815	0.995	P	0.58721	0.844	T	0.11372	-1.0590	9	0.56958	D	0.05	.	6.8324	0.23917	0.1504:0.0:0.8496:0.0	.	129	Q15935	ZNF77_HUMAN	V	21;129	ENSP00000319053:L129V	ENSP00000319053:L129V	L	-	1	0	ZNF77	2885740	0.001000	0.12720	0.002000	0.10522	0.012000	0.07955	0.866000	0.27954	0.427000	0.26145	0.491000	0.48974	CTT		0.493	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1		NM_021217	
ZW10	9183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	113607443	113607443	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr11:113607443G>T	ENST00000200135.3	-	15	2262	c.2118C>A	c.(2116-2118)aaC>aaA	p.N706K		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	706					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)	p.N706K(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GATATTTCTTGTTCTTGCTTT	0.393																																																	1	Substitution - Missense(1)	kidney(1)											323.0	297.0	306.0					11																	113607443		2201	4296	6497	SO:0001583	missense	9183			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.2118C>A	11.37:g.113607443G>T	ENSP00000200135:p.Asn706Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213219	0.39102	.	.	ENSG00000086827	ENST00000200135	T	0.44083	0.93	6.03	0.323	0.15893	.	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	L	0.56769	1.78	0.58432	D	0.999998	B	0.24317	0.101	B	0.20384	0.029	T	0.17684	-1.0361	10	0.12103	T	0.63	-19.2355	12.0956	0.53752	0.4283:0.0:0.5717:0.0	.	706	O43264	ZW10_HUMAN	K	706	ENSP00000200135:N706K	ENSP00000200135:N706K	N	-	3	2	ZW10	113112653	0.978000	0.34361	0.999000	0.59377	0.997000	0.91878	0.183000	0.16919	0.141000	0.18875	0.655000	0.94253	AAC		0.393	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1		NM_004724	
DOCK10	55619	broad.mit.edu	37	2	225661099	225661099	+	Silent	SNP	T	T	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr2:225661099T>C	ENST00000258390.7	-	44	4939	c.4872A>G	c.(4870-4872)ggA>ggG	p.G1624G	DOCK10_ENST00000409592.3_Silent_p.G1618G	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1624					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.G162G(1)|p.G1622G(1)		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)		ACCGAGAGCCTCCAATCCCAG	0.378																																																	2	Substitution - coding silent(2)	kidney(2)											63.0	57.0	59.0					2																	225661099		1834	4070	5904	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.4872A>G	2.37:g.225661099T>C		Somatic		WXS	Illumina GAIIx	Phase_I	B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	CCDS46528.1																																																																																				0.378	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			
MTA1	9112	broad.mit.edu	37	14	105930474	105930474	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr14:105930474G>C	ENST00000331320.7	+	13	1396	c.1182G>C	c.(1180-1182)gaG>gaC	p.E394D	MTA1_ENST00000405646.1_Missense_Mutation_p.E377D|MTA1_ENST00000406191.1_Missense_Mutation_p.E394D|MTA1_ENST00000435036.2_5'UTR	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	394					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E394D(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GGGCCTGCGAGAGCTGTTACA	0.692																																																	1	Substitution - Missense(1)	kidney(1)											27.0	33.0	31.0					14																	105930474		2198	4296	6494	SO:0001583	missense	9112			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1182G>C	14.37:g.105930474G>C	ENSP00000333633:p.Glu394Asp	Somatic		WXS	Illumina GAIIx	Phase_I	A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	CCDS32169.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182330	0.78677	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050	D;D;D;D	0.99548	-6.14;-6.14;-6.14;-6.14	4.61	3.57	0.40892	Zinc finger, GATA-type (2);	0.000000	0.85682	D	0.000000	D	0.99366	0.9777	M	0.84082	2.675	0.80722	D	1	P;D	0.56287	0.891;0.975	P;D	0.67382	0.84;0.951	D	0.99848	1.1068	10	0.87932	D	0	-39.3703	3.5463	0.07829	0.3685:0.0:0.6315:0.0	.	186;394	Q59FW1;Q13330	.;MTA1_HUMAN	D	303;394;394;377;186	ENSP00000333633:E394D;ENSP00000385702:E394D;ENSP00000384180:E377D;ENSP00000394106:E186D	ENSP00000333633:E394D	E	+	3	2	MTA1	105001519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.817000	0.39002	2.113000	0.64589	0.563000	0.77884	GAG		0.692	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			
PSMA4	5685	broad.mit.edu	37	15	78838990	78838990	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr15:78838990T>G	ENST00000044462.7	+	8	731	c.581T>G	c.(580-582)aTc>aGc	p.I194S	PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000560217.1_Missense_Mutation_p.I163S|PSMA4_ENST00000558094.1_Intron|PSMA4_ENST00000413382.2_Missense_Mutation_p.I123S|PSMA4_ENST00000558281.1_Intron|PSMA4_ENST00000559082.1_Missense_Mutation_p.I194S	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	194					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)	p.I194S(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCTTTAGCTATCAAAGTACTA	0.348																																																	1	Substitution - Missense(1)	kidney(1)											104.0	103.0	104.0					15																	78838990		2196	4293	6489	SO:0001583	missense	5685			BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"""Proteasome (prosome, macropain) subunits"""	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.581T>G	15.37:g.78838990T>G	ENSP00000044462:p.Ile194Ser	Somatic		WXS	Illumina GAIIx	Phase_I	D3DW86|Q53XP2|Q567Q5|Q8TBD1	Missense_Mutation	SNP	ENST00000044462.7	37	CCDS10303.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.982305	0.93044	.	.	ENSG00000041357	ENST00000413382;ENST00000044462	T;T	0.22743	1.94;1.94	6.02	6.02	0.97574	.	0.110661	0.64402	D	0.000004	T	0.49423	0.1556	M	0.86953	2.85	0.80722	D	1	D	0.65815	0.995	P	0.59115	0.852	T	0.57728	-0.7761	10	0.87932	D	0	-15.278	16.5446	0.84426	0.0:0.0:0.0:1.0	.	194	P25789	PSA4_HUMAN	S	123;194	ENSP00000402118:I123S;ENSP00000044462:I194S	ENSP00000044462:I194S	I	+	2	0	PSMA4	76626045	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.809000	0.86057	2.311000	0.77944	0.533000	0.62120	ATC		0.348	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5		NM_002789	
SNED1	25992	broad.mit.edu	37	2	241976725	241976725	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr2:241976725C>T	ENST00000310397.8	+	6	1000	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C	SNED1_ENST00000405547.3_Missense_Mutation_p.R334C|SNED1_ENST00000342631.6_Missense_Mutation_p.R334C|SNED1_ENST00000401884.1_Missense_Mutation_p.R334C|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	334	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R334C(1)		NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CAACAGTTTCCGCTGCCAGTG	0.647																																																	1	Substitution - Missense(1)	kidney(1)											36.0	41.0	39.0					2																	241976725		2053	4195	6248	SO:0001583	missense	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1000C>T	2.37:g.241976725C>T	ENSP00000308893:p.Arg334Cys	Somatic		WXS	Illumina GAIIx	Phase_I	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	CCDS46562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.77|12.77	2.036979|2.036979	0.35893|0.35893	.|.	.|.	ENSG00000162804|ENSG00000162804	ENST00000401644|ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	.|D;D;D;D	.|0.88354	.|-2.37;-2.37;-2.37;-2.37	4.72|4.72	2.25|2.25	0.28309|0.28309	.|EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.|0.283156	.|0.29884	.|N	.|0.010956	D|D	0.89767|0.89767	0.6810|0.6810	M|M	0.89658|0.89658	3.05|3.05	0.39792|0.39792	D|D	0.972452|0.972452	.|D	.|0.57571	.|0.98	.|P	.|0.44897	.|0.463	D|D	0.88518|0.88518	0.3094|0.3094	5|10	.|0.56958	.|D	.|0.05	.|.	7.6032|7.6032	0.28087|0.28087	0.7808:0.1426:0.0767:0.0|0.7808:0.1426:0.0767:0.0	.|.	.|334	.|Q8TER0	.|SNED1_HUMAN	L|C	30|334	.|ENSP00000384871:R334C;ENSP00000386007:R334C;ENSP00000308893:R334C;ENSP00000342992:R334C	.|ENSP00000308893:R334C	P|R	+|+	2|1	0|0	SNED1|SNED1	241625398|241625398	0.003000|0.003000	0.15002|0.15002	1.000000|1.000000	0.80357|0.80357	0.400000|0.400000	0.30750|0.30750	0.094000|0.094000	0.15107|0.15107	0.649000|0.649000	0.30751|0.30751	-0.388000|-0.388000	0.06559|0.06559	CCG|CGC		0.647	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2		XM_059482	
TSNARE1	203062	broad.mit.edu	37	8	143425602	143425602	+	Missense_Mutation	SNP	G	G	T	rs534912864	byFrequency	TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr8:143425602G>T	ENST00000307180.3	-	4	587	c.470C>A	c.(469-471)cCc>cAc	p.P157H	TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000520166.1_Missense_Mutation_p.P157H|TSNARE1_ENST00000524325.1_Missense_Mutation_p.P157H	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	157					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)	p.P157H(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCTGCGAGTGGGCTCGGCCTT	0.652																																																	1	Substitution - Missense(1)	kidney(1)											52.0	53.0	53.0					8																	143425602		2203	4300	6503	SO:0001583	missense	203062					8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.470C>A	8.37:g.143425602G>T	ENSP00000303437:p.Pro157His	Somatic		WXS	Illumina GAIIx	Phase_I	B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158042	0.57368	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166	T;T;T	0.11821	2.74;2.74;2.74	3.64	3.64	0.41730	.	0.231783	0.21405	U	0.075066	T	0.23133	0.0559	N	0.25647	0.755	0.22684	N	0.998855	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71870	0.975;0.975;0.975	T	0.03221	-1.1059	10	0.87932	D	0	-2.0391	13.1651	0.59567	0.0:0.0:1.0:0.0	.	157;157;157	B7ZLB0;Q96NA8;A0AVG3	.;TSNA1_HUMAN;.	H	157	ENSP00000428763:P157H;ENSP00000303437:P157H;ENSP00000427770:P157H	ENSP00000303437:P157H	P	-	2	0	TSNARE1	143423509	0.328000	0.24687	0.573000	0.28510	0.773000	0.43773	1.947000	0.40293	1.741000	0.51731	0.609000	0.83330	CCC		0.652	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_145003	
WASH3P	374666	broad.mit.edu	37	15	102515335	102515335	+	RNA	SNP	C	C	G	rs201001946		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr15:102515335C>G	ENST00000557932.1	+	0	1181				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.L386V(3)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GGAGCGAAAGCTGGAGAAGAA	0.652																																																	3	Substitution - Missense(3)	prostate(2)|kidney(1)																																										374666					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515335C>G		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000557932.1	37		.	.	.	.	.	.	.	.	.	.	c	1.538	-0.542507	0.04053	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.125321	0.53938	D	0.000056	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-11.5249	7.9382	0.29941	0.0:1.0:0.0:0.0	.	.	.	.	V	395;386	.	.	L	+	1	2	WASH3P	100332858	1.000000	0.71417	0.999000	0.59377	0.392000	0.30506	1.146000	0.31589	0.863000	0.35553	0.184000	0.17185	CTG		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1		NM_199163	
