#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
ADD2	119	hgsc.bcm.edu	37	2	70933488	70933489	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr2:70933488_70933489insG	ENST00000264436.4	-	3	496_497	c.52_53insC	c.(52-54)cagfs	p.Q18fs	ADD2_ENST00000430656.1_Frame_Shift_Ins_p.Q34fs|ADD2_ENST00000407644.2_Frame_Shift_Ins_p.Q18fs|ADD2_ENST00000413157.2_Frame_Shift_Ins_p.Q18fs|ADD2_ENST00000473232.1_5'Flank|ADD2_ENST00000355733.3_Frame_Shift_Ins_p.Q18fs	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	18					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AAAGTAAGGCTGCCCCTGCGGG	0.634																																																	0																																										SO:0001589	frameshift_variant	119			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.53dupC	2.37:g.70933489_70933489dupG	ENSP00000264436:p.Gln18fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Frame_Shift_Ins	INS	ENST00000264436.4	37	CCDS1906.1																																																																																				0.634	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4		NM_001617	
AFAP1L2	84632	hgsc.bcm.edu;ucsc.edu	37	10	116075322	116075322	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr10:116075322delA	ENST00000304129.4	-	6	638	c.609delT	c.(607-609)cttfs	p.L204fs	AFAP1L2_ENST00000545353.1_Frame_Shift_Del_p.L257fs|AFAP1L2_ENST00000369271.3_Frame_Shift_Del_p.L204fs			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	204	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GACTGACCAGAAGCCTGTTGT	0.617																																																	0													103.0	68.0	79.0					10																	116075322		2203	4300	6503	SO:0001589	frameshift_variant	84632			BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.609delT	10.37:g.116075322delA	ENSP00000303042:p.Leu204fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Frame_Shift_Del	DEL	ENST00000304129.4	37	CCDS31286.1																																																																																				0.617	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1		NM_032550	
AQP9	366	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	58471498	58471498	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr15:58471498C>T	ENST00000219919.4	+	5	1037	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S	AQP9_ENST00000536493.1_Missense_Mutation_p.P223S|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.P158S	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	223					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.P223S(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		AGACCTGAGTCCCAGACTTTT	0.552																																																	1	Substitution - Missense(1)	kidney(1)											55.0	47.0	50.0					15																	58471498		2192	4292	6484	SO:0001583	missense	366			AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"""Ion channels / Aquaporins"""	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.667C>T	15.37:g.58471498C>T	ENSP00000219919:p.Pro223Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	C	35	5.528053	0.96446	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	D;D	0.88975	-2.45;-2.45	6.17	6.17	0.99709	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97346	0.9960	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	223	O43315	AQP9_HUMAN	S	223	ENSP00000219919:P223S;ENSP00000441390:P223S	ENSP00000219919:P223S	P	+	1	0	AQP9	56258790	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.941000	0.99782	0.655000	0.94253	CCC		0.552	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2		NM_020980	
ARAP1	116985	hgsc.bcm.edu	37	11	72407643	72407644	+	Frame_Shift_Ins	INS	-	-	C	rs77227247		TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr11:72407643_72407644insC	ENST00000393609.3	-	23	3424_3425	c.3222_3223insG	c.(3220-3225)ctgcccfs	p.P1075fs	ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Frame_Shift_Ins_p.P835fs|ARAP1_ENST00000359373.5_Frame_Shift_Ins_p.P1075fs|ARAP1_ENST00000455638.2_Frame_Shift_Ins_p.P1075fs|ARAP1_ENST00000429686.1_Frame_Shift_Ins_p.P769fs|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000426523.1_Frame_Shift_Ins_p.P830fs|ARAP1_ENST00000334211.8_Frame_Shift_Ins_p.P830fs	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1075	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TTGACAGGGGGCAGCCGCACCA	0.55																																					Ovarian(102;1198 1520 13195 17913 37529)												0																																										SO:0001589	frameshift_variant	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3223dupG	11.37:g.72407644_72407644dupC	ENSP00000377233:p.Pro1075fs	Somatic		WXS	Illumina HiSeq	Phase_I	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Frame_Shift_Ins	INS	ENST00000393609.3	37	CCDS41687.1																																																																																				0.550	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1		NM_001040118	
ATF7IP	55729	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14578241	14578241	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr12:14578241T>G	ENST00000540793.1	+	1	1547	c.1392T>G	c.(1390-1392)aaT>aaG	p.N464K	ATF7IP_ENST00000544627.1_Missense_Mutation_p.N472K|ATF7IP_ENST00000543189.1_Missense_Mutation_p.N464K|ATF7IP_ENST00000261168.4_Missense_Mutation_p.N464K|ATF7IP_ENST00000536444.1_Missense_Mutation_p.N464K|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	464	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.N464K(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						ATGAGACAAATCCAGATTTGG	0.383																																																	1	Substitution - Missense(1)	kidney(1)											58.0	60.0	59.0					12																	14578241		2203	4300	6503	SO:0001583	missense	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1392T>G	12.37:g.14578241T>G	ENSP00000444589:p.Asn464Lys	Somatic		WXS	Illumina HiSeq	Phase_I	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.590514	0.46214	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.23147	2.26;2.26;2.26;2.26;1.92;2.26	5.54	1.57	0.23409	.	0.514144	0.19309	N	0.117446	T	0.17492	0.0420	L	0.40543	1.245	0.20196	N	0.999923	B;B;B;B;B;B;B	0.34015	0.161;0.161;0.023;0.435;0.435;0.023;0.023	B;B;B;B;B;B;B	0.31101	0.079;0.049;0.049;0.124;0.124;0.049;0.049	T	0.12293	-1.0553	10	0.51188	T	0.08	-14.5847	6.9027	0.24291	0.0:0.4102:0.0:0.5898	.	472;464;472;464;464;464;75	B4E2A2;B4DRL6;F5GX74;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;.;MCAF1_HUMAN;.;.	K	464;464;464;472;464;464	ENSP00000261168:N464K;ENSP00000443179:N464K;ENSP00000445955:N464K;ENSP00000440440:N472K;ENSP00000379575:N464K;ENSP00000444589:N464K	ENSP00000261168:N464K	N	+	3	2	ATF7IP	14469508	0.948000	0.32251	0.987000	0.45799	0.974000	0.67602	1.147000	0.31602	0.481000	0.27557	0.482000	0.46254	AAT		0.383	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1		NM_018179	
ATP13A3	79572	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	194149610	194149610	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr3:194149610T>A	ENST00000439040.1	-	28	3702	c.2911A>T	c.(2911-2913)Att>Ttt	p.I971F	ATP13A3_ENST00000256031.4_Missense_Mutation_p.I971F			Q9H7F0	AT133_HUMAN	ATPase type 13A3	971						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.I971F(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCCAGATCAATGAAGAGAAAC	0.294																																																	1	Substitution - Missense(1)	kidney(1)											60.0	57.0	58.0					3																	194149610		1810	4067	5877	SO:0001583	missense	79572			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2911A>T	3.37:g.194149610T>A	ENSP00000416508:p.Ile971Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.779351	0.70107	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	D;D	0.90788	-2.73;-2.73	5.63	5.63	0.86233	.	0.048367	0.85682	D	0.000000	D	0.92215	0.7531	M	0.76170	2.325	0.80722	D	1	P	0.39847	0.691	P	0.48089	0.566	D	0.90194	0.4252	10	0.19590	T	0.45	-25.9652	15.3339	0.74234	0.0:0.0:0.0:1.0	.	971	Q9H7F0	AT133_HUMAN	F	971	ENSP00000416508:I971F;ENSP00000256031:I971F	ENSP00000256031:I971F	I	-	1	0	ATP13A3	195630899	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.746000	0.62133	2.279000	0.76181	0.533000	0.62120	ATT		0.294	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2		NM_024524	
DTD2	112487	broad.mit.edu;hgsc.bcm.edu	37	14	31917639	31917639	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr14:31917639T>A	ENST00000310850.4	-	3	319	c.203A>T	c.(202-204)aAa>aTa	p.K68I	RP11-176H8.1_ENST00000547378.1_Intron|CTD-2213F21.2_ENST00000502430.2_RNA|DTD2_ENST00000356180.4_Missense_Mutation_p.K68I	NM_080664.2	NP_542395.1	Q96FN9	DTD2_HUMAN	D-tyrosyl-tRNA deacylase 2 (putative)	68					D-amino acid catabolic process (GO:0019478)	cytoplasm (GO:0005737)	hydrolase activity, acting on ester bonds (GO:0016788)	p.K68I(1)									CTCACTTAATTTCACATTTAA	0.353																																																	1	Substitution - Missense(1)	kidney(1)											81.0	84.0	83.0					14																	31917639		2203	4300	6503	SO:0001583	missense	0			BC010618	CCDS9643.1	14q12	2012-09-25	2012-09-25	2012-09-25	ENSG00000129480	ENSG00000129480			20277	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 126"""	C14orf126			Standard	NM_080664		Approved	MGC9912	uc001wrj.3	Q96FN9	OTTHUMG00000140205	ENST00000310850.4:c.203A>T	14.37:g.31917639T>A	ENSP00000312224:p.Lys68Ile	Somatic		WXS	Illumina HiSeq	Phase_I	D3DS87	Missense_Mutation	SNP	ENST00000310850.4	37	CCDS9643.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.423496	0.83559	.	.	ENSG00000129480	ENST00000310850;ENST00000356180	T;T	0.50277	0.75;0.75	5.96	5.96	0.96718	D-Tyr tRNAtyr deacylase-like domain (2);	0.102998	0.64402	N	0.000003	T	0.71195	0.3311	M	0.84219	2.685	0.53005	D	0.999969	D	0.67145	0.996	D	0.68765	0.96	T	0.75977	-0.3127	10	0.87932	D	0	-3.0326	16.4338	0.83864	0.0:0.0:0.0:1.0	.	68	Q96FN9	DTD2_HUMAN	I	68	ENSP00000312224:K68I;ENSP00000348503:K68I	ENSP00000312224:K68I	K	-	2	0	C14orf126	30987390	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.616000	0.67709	2.270000	0.75569	0.533000	0.62120	AAA		0.353	DTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276614.2		NM_080664	
METTL18	92342	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169762230	169762230	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr1:169762230T>G	ENST00000310392.4	-	2	960	c.607A>C	c.(607-609)Ata>Cta	p.I203L	C1orf112_ENST00000359326.4_5'Flank|C1orf112_ENST00000498289.1_Intron|C1orf112_ENST00000286031.6_5'Flank|METTL18_ENST00000303469.2_Missense_Mutation_p.I203L|C1orf112_ENST00000456684.1_5'Flank|C1orf112_ENST00000413811.2_5'Flank	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	203						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.I203L(1)		kidney(1)|large_intestine(3)|lung(4)	8						AATGCAGTTATACCTAGTAAA	0.393																																																	1	Substitution - Missense(1)	kidney(1)											126.0	128.0	128.0					1																	169762230		2203	4299	6502	SO:0001583	missense	0			AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"""histidine protein methyltransferase 1"""	615255	"""chromosome 1 open reading frame 156"""	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.607A>C	1.37:g.169762230T>G	ENSP00000307975:p.Ile203Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9T5	Missense_Mutation	SNP	ENST00000310392.4	37	CCDS1284.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336226	0.41398	.	.	ENSG00000171806	ENST00000310392;ENST00000303469	D;D	0.82711	-1.64;-1.64	5.96	4.82	0.62117	.	0.050924	0.85682	N	0.000000	T	0.61476	0.2350	L	0.33753	1.03	0.58432	D	0.999994	B	0.21381	0.055	B	0.32928	0.155	T	0.56541	-0.7962	10	0.12430	T	0.62	-0.3404	11.446	0.50123	0.1352:0.0:0.0:0.8648	.	203	O95568	MET18_HUMAN	L	203	ENSP00000307975:I203L;ENSP00000307077:I203L	ENSP00000307077:I203L	I	-	1	0	METTL18	168028854	1.000000	0.71417	0.984000	0.44739	0.652000	0.38707	4.790000	0.62453	1.039000	0.40074	0.533000	0.62120	ATA		0.393	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087109.1		NM_033418	
FAM208A	23272	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	56667576	56667576	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr3:56667576C>A	ENST00000493960.2	-	18	3253	c.3243G>T	c.(3241-3243)ttG>ttT	p.L1081F	FAM208A_ENST00000431842.2_Missense_Mutation_p.L644F|FAM208A_ENST00000355628.5_Missense_Mutation_p.L1020F	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1081							poly(A) RNA binding (GO:0044822)	p.L644F(1)|p.L1020F(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GCTTCTCATGCAAACCATCTA	0.413																																																	2	Substitution - Missense(2)	kidney(2)											85.0	91.0	89.0					3																	56667576		2203	4300	6503	SO:0001583	missense	0			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3243G>T	3.37:g.56667576C>A	ENSP00000417509:p.Leu1081Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076866	0.55753	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.26223	1.75;1.9;1.88	5.71	0.867	0.19085	.	0.000000	0.56097	D	0.000027	T	0.44265	0.1285	M	0.67397	2.05	0.43238	D	0.995149	D;D;D;D	0.89917	0.998;1.0;0.983;0.99	D;D;D;P	0.76575	0.968;0.988;0.947;0.851	T	0.32640	-0.9899	10	0.62326	D	0.03	-6.3664	10.8388	0.46702	0.0:0.6782:0.0:0.3218	.	1081;1020;644;1081	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	F	644;1081;1020	ENSP00000399410:L644F;ENSP00000417509:L1081F;ENSP00000347845:L1020F	ENSP00000347845:L1020F	L	-	3	2	C3orf63	56642616	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	0.751000	0.26348	0.159000	0.19401	-0.142000	0.14014	TTG		0.413	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2		NM_015224	
CD101	9398	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	117564261	117564261	+	Missense_Mutation	SNP	T	T	C	rs371723692		TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr1:117564261T>C	ENST00000256652.4	+	7	2142	c.2084T>C	c.(2083-2085)aTa>aCa	p.I695T	CD101_ENST00000369470.1_Missense_Mutation_p.I695T	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	695	Ig-like C2-type 6.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.I695T(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AACACTGATATAGAATGTAGC	0.383																																																	1	Substitution - Missense(1)	kidney(1)						T	THR/ILE	0,4406		0,0,2203	84.0	78.0	80.0		2084	4.9	0.9	1		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	CD101	NM_004258.3	89	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	695/1022	117564261	1,13005	2203	4300	6503	SO:0001583	missense	9398			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.2084T>C	1.37:g.117564261T>C	ENSP00000256652:p.Ile695Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	CCDS891.1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.330642	0.41297	0.0	1.16E-4	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.03094	4.05;4.05	4.86	4.86	0.63082	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.101407	0.43747	D	0.000522	T	0.05364	0.0142	M	0.77616	2.38	0.36811	D	0.885876	P	0.45348	0.856	P	0.48368	0.575	T	0.02698	-1.1122	10	0.87932	D	0	-16.0452	10.7779	0.46361	0.0:0.0:0.0:1.0	.	695	Q93033	IGSF2_HUMAN	T	695	ENSP00000256652:I695T;ENSP00000358482:I695T	ENSP00000256652:I695T	I	+	2	0	CD101	117365784	0.999000	0.42202	0.944000	0.38274	0.267000	0.26476	5.156000	0.64905	2.038000	0.60285	0.533000	0.62120	ATA		0.383	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1		NM_004258	
CHAF1A	10036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	4408962	4408962	+	Missense_Mutation	SNP	G	G	T	rs61729782		TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr19:4408962G>T	ENST00000301280.5	+	3	267	c.166G>T	c.(166-168)Gat>Tat	p.D56Y		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	56	Binds to CBX1 chromo shadow domain.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.D56Y(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGTCAGACGATCAGGGTAC	0.473								Chromatin Structure																																									1	Substitution - Missense(1)	kidney(1)											134.0	134.0	134.0					19																	4408962		2203	4300	6503	SO:0001583	missense	10036			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.166G>T	19.37:g.4408962G>T	ENSP00000301280:p.Asp56Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907860	0.33721	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.52295	0.67	5.37	-1.97	0.07503	.	.	.	.	.	T	0.43077	0.1231	L	0.47716	1.5	0.09310	N	1	P	0.51653	0.947	P	0.49477	0.612	T	0.38520	-0.9657	9	0.87932	D	0	-14.1851	5.0473	0.14490	0.075:0.2128:0.4995:0.2128	.	56	Q13111	CAF1A_HUMAN	Y	56	ENSP00000301280:D56Y	ENSP00000301280:D56Y	D	+	1	0	CHAF1A	4359962	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.568000	0.23623	-0.090000	0.12462	-0.397000	0.06425	GAT		0.473	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2		NM_005483	
CTGF	1490	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	132270523	132270523	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr6:132270523C>T	ENST00000367976.3	-	5	1131	c.931G>A	c.(931-933)Gag>Aag	p.E311K	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	311	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.|Heparin-binding.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)	p.E311K(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		TTCATGACCTCGCCGTCAGGG	0.522																																					Esophageal Squamous(127;510 1660 12817 24400 38449)												1	Substitution - Missense(1)	kidney(1)											146.0	135.0	139.0					6																	132270523		2203	4300	6503	SO:0001583	missense	1490			X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.931G>A	6.37:g.132270523C>T	ENSP00000356954:p.Glu311Lys	Somatic		WXS	Illumina HiSeq	Phase_I	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	ENST00000367976.3	37	CCDS5151.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661040	0.47572	.	.	ENSG00000118523	ENST00000367976	T	0.16597	2.33	5.55	5.55	0.83447	Cystine knot (1);Cystine knot, C-terminal (3);	0.055100	0.64402	D	0.000001	T	0.08447	0.0210	L	0.31476	0.935	0.52099	D	0.999946	B	0.28880	0.226	B	0.24269	0.052	T	0.08680	-1.0710	10	0.44086	T	0.13	.	19.8696	0.96845	0.0:1.0:0.0:0.0	.	311	P29279	CTGF_HUMAN	K	311	ENSP00000356954:E311K	ENSP00000356954:E311K	E	-	1	0	CTGF	132312216	1.000000	0.71417	0.958000	0.39756	0.987000	0.75469	3.957000	0.56730	2.773000	0.95371	0.585000	0.79938	GAG		0.522	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2		NM_001901	
CYP2D6	1565	hgsc.bcm.edu	37	22	42524814	42524814	+	Missense_Mutation	SNP	A	A	G	rs199535154		TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr22:42524814A>G	ENST00000360608.5	-	4	752	c.638T>C	c.(637-639)cTg>cCg	p.L213P	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.L213P|CYP2D6_ENST00000359033.4_Missense_Mutation_p.L162P	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	213					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)	p.L162P(1)|p.L213P(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CTCCTCCTTCAGTCCCTCCTG	0.672																																																	2	Substitution - Missense(2)	lung(2)	GRCh37	CM994691	CYP2D6	M							30.0	25.0	27.0					22																	42524814		2199	4299	6498	SO:0001583	missense	1565			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.638T>C	22.37:g.42524814A>G	ENSP00000353820:p.Leu213Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	a	14.30	2.492981	0.44352	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.80909	-1.43;-1.43;-0.46	3.52	3.52	0.40303	.	0.393637	0.21167	N	0.079050	D	0.89136	0.6629	M	0.89414	3.03	0.40934	D	0.984414	D;D	0.59357	0.981;0.985	D;D	0.68192	0.948;0.956	D	0.90041	0.4142	10	0.87932	D	0	.	8.6956	0.34293	1.0:0.0:0.0:0.0	.	162;213	Q6NXU8;Q6NWU0	.;.	P	213;213;159;162;162	ENSP00000353820:L213P;ENSP00000374620:L213P;ENSP00000351927:L162P	ENSP00000351927:L162P	L	-	2	0	CYP2D6	40854758	0.006000	0.16342	0.004000	0.12327	0.009000	0.06853	2.182000	0.42556	1.832000	0.53329	0.254000	0.18369	CTG		0.672	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			
CYP8B1	1582	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	42917124	42917124	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr3:42917124G>C	ENST00000316161.4	-	1	509	c.185C>G	c.(184-186)aCc>aGc	p.T62S	RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.T62S|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	62					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)	p.T62S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CCCATGCTTGGTCCTCATGCG	0.562																																																	1	Substitution - Missense(1)	kidney(1)											77.0	69.0	72.0					3																	42917124		2203	4300	6503	SO:0001583	missense	1582			AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.185C>G	3.37:g.42917124G>C	ENSP00000318867:p.Thr62Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.925779	0.00493	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.68025	-0.3;-0.3	5.04	-0.114	0.13564	.	1.006490	0.07980	N	0.985383	T	0.35885	0.0947	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.14023	0.01;0.006	T	0.21245	-1.0251	10	0.44086	T	0.13	-7.2934	4.1158	0.10081	0.073:0.1964:0.3862:0.3445	.	62;62	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	S	62	ENSP00000404499:T62S;ENSP00000318867:T62S	ENSP00000318867:T62S	T	-	2	0	CYP8B1	42892128	0.000000	0.05858	0.033000	0.17914	0.023000	0.10783	0.563000	0.23547	0.041000	0.15688	-2.921000	0.00090	ACC		0.562	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1		NM_004391	
DAAM1	23002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	59835514	59835514	+	Silent	SNP	A	A	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr14:59835514A>G	ENST00000395125.1	+	25	3197	c.3174A>G	c.(3172-3174)aaA>aaG	p.K1058K	DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Silent_p.K1048K|DAAM1_ENST00000351081.1_Silent_p.K1058K	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1058	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.K1058K(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GGAATCGCAAACGTATTACCA	0.373																																																	1	Substitution - coding silent(1)	kidney(1)											112.0	106.0	108.0					14																	59835514		2203	4300	6503	SO:0001819	synonymous_variant	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.3174A>G	14.37:g.59835514A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	ENST00000395125.1	37	CCDS9737.1																																																																																				0.373	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2		NM_014992	
DMD	1756	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	32862975	32862975	+	Silent	SNP	T	T	C			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chrX:32862975T>C	ENST00000357033.4	-	4	395	c.189A>G	c.(187-189)ccA>ccG	p.P63P	DMD_ENST00000288447.4_Silent_p.P55P|DMD_ENST00000378677.2_Silent_p.P59P	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	63	ANK2- and ANK-3 binding. {ECO:0000250}.|Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.P58P(1)|p.P59P(1)|p.P63P(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTTTTCTTTTGGCTGAGAAC	0.388																																																	3	Substitution - coding silent(3)	kidney(3)											138.0	105.0	116.0					X																	32862975		2202	4300	6502	SO:0001819	synonymous_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.189A>G	X.37:g.32862975T>C		Somatic		WXS	Illumina HiSeq	Phase_I	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1																																																																																				0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2		NM_004006	
DIAPH2	1730	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	96369939	96369939	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chrX:96369939G>C	ENST00000324765.8	+	21	2911	c.2564G>C	c.(2563-2565)gGa>gCa	p.G855A	DIAPH2_ENST00000373054.4_Missense_Mutation_p.G851A|DIAPH2_ENST00000355827.4_Missense_Mutation_p.G855A|DIAPH2_ENST00000373049.4_Missense_Mutation_p.G855A|DIAPH2_ENST00000373061.3_Missense_Mutation_p.G855A			O60879	DIAP2_HUMAN	diaphanous-related formin 2	855	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.G855A(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CAGTCTTTGGGATTTAAGATC	0.333																																																	1	Substitution - Missense(1)	kidney(1)											65.0	65.0	65.0					X																	96369939		2203	4300	6503	SO:0001583	missense	1730			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2564G>C	X.37:g.96369939G>C	ENSP00000321348:p.Gly855Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408664	0.83340	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.81	5.81	0.92471	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000001	D	0.86965	0.6060	L	0.59967	1.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87724	0.2575	10	0.87932	D	0	.	19.0174	0.92900	0.0:0.0:1.0:0.0	.	855;855	O60879;O60879-2	DIAP2_HUMAN;.	A	855;851;855;855;855;862	ENSP00000362152:G855A;ENSP00000362145:G851A;ENSP00000348082:G855A;ENSP00000362140:G855A;ENSP00000321348:G855A	ENSP00000321348:G855A	G	+	2	0	DIAPH2	96256595	1.000000	0.71417	0.834000	0.33040	0.941000	0.58515	9.715000	0.98748	2.439000	0.82584	0.600000	0.82982	GGA		0.333	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2		NM_006729, NM_007309	
EEA1	8411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	93210026	93210026	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr12:93210026T>G	ENST00000322349.8	-	15	2143	c.1879A>C	c.(1879-1881)Aat>Cat	p.N627H		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	627	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.N627H(1)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AATTGACTATTTAATTCATTG	0.398																																																	1	Substitution - Missense(1)	kidney(1)											142.0	131.0	135.0					12																	93210026		2202	4300	6502	SO:0001583	missense	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1879A>C	12.37:g.93210026T>G	ENSP00000317955:p.Asn627His	Somatic		WXS	Illumina HiSeq	Phase_I	Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.832531	0.50845	.	.	ENSG00000102189	ENST00000322349	T	0.77489	-1.1	5.27	5.27	0.74061	.	0.450396	0.20217	N	0.096780	T	0.65943	0.2740	N	0.19112	0.55	0.29987	N	0.81724	B	0.33448	0.412	B	0.30855	0.121	T	0.69007	-0.5259	10	0.66056	D	0.02	.	15.1766	0.72916	0.0:0.0:0.0:1.0	.	627	Q15075	EEA1_HUMAN	H	627	ENSP00000317955:N627H	ENSP00000317955:N627H	N	-	1	0	EEA1	91734157	1.000000	0.71417	0.964000	0.40570	0.825000	0.46686	7.665000	0.83852	2.000000	0.58554	0.260000	0.18958	AAT		0.398	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1		NM_003566	
EHBP1	23301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	63169917	63169917	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr2:63169917G>A	ENST00000263991.5	+	12	1837	c.1355G>A	c.(1354-1356)tGg>tAg	p.W452*	EHBP1_ENST00000405289.1_Nonsense_Mutation_p.W417*|EHBP1_ENST00000431489.1_Nonsense_Mutation_p.W417*|EHBP1_ENST00000354487.3_Nonsense_Mutation_p.W417*|EHBP1_ENST00000405015.3_Nonsense_Mutation_p.W417*	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	452	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|membrane (GO:0016020)		p.W452*(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TTGCTTGTATGGTGTAAAGAA	0.363																																																	1	Substitution - Nonsense(1)	kidney(1)											80.0	83.0	82.0					2																	63169917		2203	4300	6503	SO:0001587	stop_gained	23301			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1355G>A	2.37:g.63169917G>A	ENSP00000263991:p.Trp452*	Somatic		WXS	Illumina HiSeq	Phase_I	O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Nonsense_Mutation	SNP	ENST00000263991.5	37	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	44	10.928920	0.99490	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	.	.	.	X	417;417;452;417;417	.	ENSP00000263991:W452X	W	+	2	0	EHBP1	63023421	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.476000	0.97823	2.894000	0.99253	0.591000	0.81541	TGG		0.363	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1		NM_015252	
EIF3A	8661	broad.mit.edu;hgsc.bcm.edu	37	10	120801706	120801706	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr10:120801706G>A	ENST00000369144.3	-	19	3453	c.3326C>T	c.(3325-3327)cCc>cTc	p.P1109L	EIF3A_ENST00000541549.1_Missense_Mutation_p.P1075L	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.P1109L(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CCCTCGCCTGGGACCCCGGTC	0.627																																																	1	Substitution - Missense(1)	kidney(1)											132.0	135.0	134.0					10																	120801706		2203	4300	6503	SO:0001583	missense	8661			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3326C>T	10.37:g.120801706G>A	ENSP00000358140:p.Pro1109Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389537	0.25118	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.26373	1.74;1.79	5.65	4.75	0.60458	.	0.000000	0.39146	N	0.001444	T	0.27384	0.0672	M	0.76574	2.34	0.22171	N	0.999316	B;B	0.12013	0.005;0.0	B;B	0.12156	0.007;0.0	T	0.28808	-1.0032	10	0.12430	T	0.62	-14.1458	11.5507	0.50719	0.0683:0.125:0.8066:0.0	.	1075;1109	F5H335;Q14152	.;EIF3A_HUMAN	L	1109;1075	ENSP00000358140:P1109L;ENSP00000438178:P1075L	ENSP00000358140:P1109L	P	-	2	0	EIF3A	120791696	1.000000	0.71417	0.995000	0.50966	0.705000	0.40729	6.725000	0.74752	1.413000	0.46997	-0.251000	0.11542	CCC		0.627	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1		NM_003750	
EIF3A	8661	broad.mit.edu;hgsc.bcm.edu	37	10	120801712	120801712	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr10:120801712C>T	ENST00000369144.3	-	19	3447	c.3320G>A	c.(3319-3321)cGg>cAg	p.R1107Q	EIF3A_ENST00000541549.1_Missense_Mutation_p.R1073Q	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.R1107Q(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CCTGGGACCCCGGTCATCATC	0.627																																																	1	Substitution - Missense(1)	kidney(1)											124.0	129.0	127.0					10																	120801712		2203	4300	6503	SO:0001583	missense	8661			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3320G>A	10.37:g.120801712C>T	ENSP00000358140:p.Arg1107Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620865	0.66787	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.25579	1.8;1.79	5.54	5.54	0.83059	.	0.000000	0.36303	N	0.002676	T	0.55194	0.1905	M	0.84585	2.705	0.45914	D	0.998758	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.978	T	0.53136	-0.8481	10	0.14252	T	0.57	-6.2226	19.4692	0.94956	0.0:1.0:0.0:0.0	.	1073;1107	F5H335;Q14152	.;EIF3A_HUMAN	Q	1107;1073	ENSP00000358140:R1107Q;ENSP00000438178:R1073Q	ENSP00000358140:R1107Q	R	-	2	0	EIF3A	120791702	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	4.648000	0.61425	2.621000	0.88768	0.563000	0.77884	CGG		0.627	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1		NM_003750	
EIF5A	1984	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7214802	7214802	+	Splice_Site	SNP	T	T	C			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr17:7214802T>C	ENST00000336458.8	+	4	803		c.e4+2		GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000572815.1_Missense_Mutation_p.V135A|EIF5A_ENST00000576930.1_Splice_Site|EIF5A_ENST00000571955.1_Splice_Site|EIF5A_ENST00000419711.2_Splice_Site|EIF5A_ENST00000573542.1_Splice_Site|EIF5A_ENST00000416016.2_Splice_Site|EIF5A_ENST00000336452.7_Splice_Site	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A						apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|mRNA export from nucleus (GO:0006406)|nucleocytoplasmic transport (GO:0006913)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|translational frameshifting (GO:0006452)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation elongation factor activity (GO:0003746)|U6 snRNA binding (GO:0017070)	p.?(2)		endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						GAGATCCTGGTATGGTGCCTC	0.547																																																	2	Unknown(2)	kidney(2)											266.0	232.0	244.0					17																	7214802		2203	4300	6503	SO:0001630	splice_region_variant	1984				CCDS11099.1, CCDS45601.1	17p13-p12	2009-05-01			ENSG00000132507	ENSG00000132507			3300	protein-coding gene	gene with protein product		600187				7759117	Standard	NM_001143760		Approved	EIF5A1, EIF-5A, MGC99547, MGC104255	uc002gfr.3	P63241	OTTHUMG00000102197	ENST00000336458.8:c.402+2T>C	17.37:g.7214802T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Splice_Site	SNP	ENST00000336458.8	37	CCDS11099.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.109524	0.37242	.	.	ENSG00000132507	ENST00000336452;ENST00000336458;ENST00000419711;ENST00000416016	.	.	.	4.18	3.08	0.35506	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0887	0.42434	0.0:0.0:0.1695:0.8305	.	.	.	.	.	-1	.	.	.	+	.	.	EIF5A	7155526	1.000000	0.71417	0.954000	0.39281	0.538000	0.34931	7.282000	0.78630	0.736000	0.32559	-0.313000	0.08912	.		0.547	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220047.3		NM_001970	Intron
ELOVL2	54898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	11005769	11005769	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr6:11005769T>G	ENST00000354666.3	-	3	174	c.91A>C	c.(91-93)Atg>Ctg	p.M31L		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	31				M -> T (in Ref. 1; BAA91096). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)	p.M31L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GAGTCCAACATGAACCACCCT	0.413																																																	1	Substitution - Missense(1)	kidney(1)											112.0	87.0	96.0					6																	11005769		2203	4300	6503	SO:0001583	missense	54898			AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"""			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.91A>C	6.37:g.11005769T>G	ENSP00000346693:p.Met31Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P9E1|Q86W94	Missense_Mutation	SNP	ENST00000354666.3	37	CCDS4518.1	.	.	.	.	.	.	.	.	.	.	T	5.021	0.189517	0.09547	.	.	ENSG00000197977	ENST00000354666	T	0.18502	2.21	5.95	-1.38	0.09027	.	0.315459	0.33382	N	0.004963	T	0.00695	0.0023	N	0.00106	-2.12	0.29263	N	0.87118	B	0.02656	0.0	B	0.04013	0.001	T	0.39333	-0.9619	10	0.02654	T	1	.	13.2258	0.59914	0.0924:0.0:0.6028:0.3048	.	31	Q9NXB9	ELOV2_HUMAN	L	31	ENSP00000346693:M31L	ENSP00000346693:M31L	M	-	1	0	ELOVL2	11113755	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	0.556000	0.23438	-0.434000	0.07275	0.533000	0.62120	ATG		0.413	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039849.1			
FNIP2	57600	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	159750366	159750366	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr4:159750366C>G	ENST00000264433.6	+	3	445	c.370C>G	c.(370-372)Cca>Gca	p.P124A	FNIP2_ENST00000379346.3_Missense_Mutation_p.P147A	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	124					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P124A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GGAACAGCTTCCAAAGTACCA	0.498																																																	1	Substitution - Missense(1)	kidney(1)											63.0	60.0	61.0					4																	159750366		1969	4170	6139	SO:0001583	missense	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.370C>G	4.37:g.159750366C>G	ENSP00000264433:p.Pro124Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996588	0.74818	.	.	ENSG00000052795	ENST00000264433;ENST00000512986;ENST00000379346	T;T;T	0.39229	1.09;1.09;1.09	5.96	5.96	0.96718	.	.	.	.	.	T	0.57975	0.2090	M	0.70842	2.15	0.58432	D	0.99999	P;P	0.45044	0.849;0.754	P;P	0.50791	0.65;0.493	T	0.52487	-0.8569	8	.	.	.	.	20.4084	0.99013	0.0:1.0:0.0:0.0	.	124;147	Q9P278;D6RFH5	FNIP2_HUMAN;.	A	124;147;147	ENSP00000264433:P124A;ENSP00000421488:P147A;ENSP00000368651:P147A	.	P	+	1	0	FNIP2	159969816	1.000000	0.71417	0.997000	0.53966	0.714000	0.41099	3.713000	0.54882	2.833000	0.97629	0.650000	0.86243	CCA		0.498	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1		NM_020840	
JOSD2	126119	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51010902	51010902	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr19:51010902G>T	ENST00000598418.1	-	3	454	c.201C>A	c.(199-201)aaC>aaA	p.N67K	JOSD2_ENST00000391815.3_Missense_Mutation_p.N67K|JOSD2_ENST00000595669.1_Intron|JOSD2_ENST00000601423.1_Missense_Mutation_p.N67K	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	67	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)	cytoplasm (GO:0005737)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)	p.N67K(1)		kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		TGACATCATAGTTGCCGGTGC	0.657																																																	1	Substitution - Missense(1)	kidney(1)											87.0	93.0	91.0					19																	51010902		2203	4300	6503	SO:0001583	missense	126119			AF247787	CCDS12797.1, CCDS59413.1	19q13.33	2008-02-05				ENSG00000161677			28853	protein-coding gene	gene with protein product		615324					Standard	NM_138334		Approved	SBBI54	uc031rmi.1	Q8TAC2		ENST00000598418.1:c.201C>A	19.37:g.51010902G>T	ENSP00000468956:p.Asn67Lys	Somatic		WXS	Illumina HiSeq	Phase_I	M0QX25	Missense_Mutation	SNP	ENST00000598418.1	37	CCDS12797.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859510	0.71834	.	.	ENSG00000161677	ENST00000293431;ENST00000391815	T	0.44881	0.91	3.42	3.42	0.39159	.	0.000000	0.85682	U	0.000000	T	0.66809	0.2827	M	0.92833	3.35	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.71328	-0.4626	10	0.87932	D	0	-18.6028	6.768	0.23579	0.1291:0.0:0.8709:0.0	.	67	Q8TAC2	JOS2_HUMAN	K	87;67	ENSP00000375691:N67K	ENSP00000293431:N87K	N	-	3	2	JOSD2	55702714	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.908000	0.56355	1.931000	0.55961	0.549000	0.68633	AAC		0.657	JOSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464902.1		NM_138334	
MAP2	4133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	210561004	210561004	+	Silent	SNP	C	C	T	rs147926728		TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr2:210561004C>T	ENST00000360351.4	+	7	4616	c.4110C>T	c.(4108-4110)gaC>gaT	p.D1370D	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Silent_p.D1366D|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1370					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.D1370D(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AAACCTATGACGATTACAAAG	0.458																																					Pancreas(27;423 979 28787 29963)												1	Substitution - coding silent(1)	kidney(1)						T	,,,	2,4404	4.2+/-10.8	0,2,2201	73.0	84.0	80.0		,4110,,	-10.5	0.1	2	dbSNP_134	80	0,8600		0,0,4300	no	intron,coding-synonymous,intron,intron	MAP2	NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2	,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,	,1370/1828,,	210561004	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4110C>T	2.37:g.210561004C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	CCDS2384.1																																																																																				0.458	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2		NM_001039538	
MAPK8IP3	23162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1793404	1793404	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr16:1793404G>A	ENST00000250894.4	+	5	828	c.671G>A	c.(670-672)gGc>gAc	p.G224D	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.G224D	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	224					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)	p.G225D(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CAGATCGGGGGCAAGCTCGTG	0.652																																																	1	Substitution - Missense(1)	kidney(1)											45.0	51.0	49.0					16																	1793404		2070	4184	6254	SO:0001583	missense	23162			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.671G>A	16.37:g.1793404G>A	ENSP00000250894:p.Gly224Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306836	0.40795	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.30981	1.51;1.51	5.16	5.16	0.70880	.	0.120522	0.53938	D	0.000042	T	0.46288	0.1385	L	0.55481	1.735	0.45962	D	0.99878	B;P;D;P	0.57257	0.275;0.903;0.979;0.95	B;P;P;P	0.57720	0.283;0.488;0.826;0.648	T	0.44967	-0.9293	10	0.87932	D	0	-43.1551	15.0044	0.71501	0.0:0.1429:0.8571:0.0	.	225;224;224;224	B7ZMF3;E9PFH7;Q9UPT6;Q9UPT6-2	.;.;JIP3_HUMAN;.	D	224	ENSP00000250894:G224D;ENSP00000348290:G224D	ENSP00000250894:G224D	G	+	2	0	MAPK8IP3	1733405	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.500000	0.60387	2.408000	0.81797	0.643000	0.83706	GGC		0.652	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2		NM_001040439	
MBD5	55777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	149227852	149227852	+	Silent	SNP	T	T	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr2:149227852T>G	ENST00000407073.1	+	9	3337	c.2340T>G	c.(2338-2340)ctT>ctG	p.L780L	MBD5_ENST00000404807.1_Silent_p.L780L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	780					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.L780L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ACCACCATCTTGCAGGTTTAA	0.473																																																	1	Substitution - coding silent(1)	kidney(1)											133.0	123.0	127.0					2																	149227852		2203	4300	6503	SO:0001819	synonymous_variant	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2340T>G	2.37:g.149227852T>G		Somatic		WXS	Illumina HiSeq	Phase_I	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	T	2.041	-0.419944	0.04734	.	.	ENSG00000204406	ENST00000416015	T	0.48522	0.81	4.96	3.8	0.43715	.	0.000000	0.52532	D	0.000064	T	0.51075	0.1653	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51718	-0.8670	7	0.59425	D	0.04	-6.4971	5.3116	0.15833	0.0:0.159:0.1512:0.6897	.	.	.	.	W	520	ENSP00000393168:L520W	ENSP00000393168:L520W	L	+	2	0	MBD5	148944322	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.783000	0.26802	1.022000	0.39626	0.533000	0.62120	TTG		0.473	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			
MFHAS1	9258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	8749927	8749927	+	Missense_Mutation	SNP	G	G	C	rs201309863		TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr8:8749927G>C	ENST00000276282.6	-	1	1228	c.642C>G	c.(640-642)aaC>aaG	p.N214K		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	214								p.N214K(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CCCGCAGCCGGTTGCTGGACA	0.692																																					Melanoma(103;1201 2045 17515 28966)												1	Substitution - Missense(1)	kidney(1)											18.0	21.0	20.0					8																	8749927		2202	4298	6500	SO:0001583	missense	9258			AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.642C>G	8.37:g.8749927G>C	ENSP00000276282:p.Asn214Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.703983	0.30232	.	.	ENSG00000147324	ENST00000276282	T	0.72835	-0.69	5.29	2.53	0.30540	.	0.000000	0.85682	D	0.000000	D	0.89234	0.6657	H	0.99415	4.555	0.54753	D	0.999982	D	0.89917	1.0	D	0.87578	0.998	D	0.86923	0.2068	10	0.72032	D	0.01	.	7.449	0.27227	0.145:0.0:0.7197:0.1353	.	214	Q9Y4C4	MFHA1_HUMAN	K	214	ENSP00000276282:N214K	ENSP00000276282:N214K	N	-	3	2	MFHAS1	8787337	1.000000	0.71417	0.999000	0.59377	0.048000	0.14542	3.272000	0.51616	0.230000	0.21059	-0.253000	0.11424	AAC		0.692	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2		NM_004225	
MMS22L	253714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	97702455	97702455	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr6:97702455C>A	ENST00000275053.4	-	10	1362	c.1097G>T	c.(1096-1098)cGc>cTc	p.R366L	MMS22L_ENST00000369251.2_Missense_Mutation_p.R366L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	366					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.R366L(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TACTCCATGGCGATCAAACTT	0.328																																																	1	Substitution - Missense(1)	kidney(1)											98.0	97.0	97.0					6																	97702455		2203	4300	6503	SO:0001583	missense	253714				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1097G>T	6.37:g.97702455C>A	ENSP00000275053:p.Arg366Leu	Somatic		WXS	Illumina HiSeq	Phase_I	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452293	0.84209	.	.	ENSG00000146263	ENST00000275053;ENST00000369251;ENST00000510018;ENST00000482634	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	M	0.74258	2.255	0.58432	D	0.999996	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.965	T	0.59273	-0.7485	10	0.66056	D	0.02	-6.3405	16.6752	0.85277	0.0:1.0:0.0:0.0	.	366;366	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	L	366;366;254;58	ENSP00000275053:R366L;ENSP00000358254:R366L;ENSP00000427288:R254L;ENSP00000421225:R58L	ENSP00000275053:R366L	R	-	2	0	MMS22L	97809176	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.404000	0.66344	2.364000	0.80123	0.655000	0.94253	CGC		0.328	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3		NM_198468	
NCOA3	8202	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	46256718	46256718	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr20:46256718A>T	ENST00000371998.3	+	8	965	c.774A>T	c.(772-774)agA>agT	p.R258S	NCOA3_ENST00000497292.1_3'UTR|NCOA3_ENST00000341724.6_Missense_Mutation_p.R258S|NCOA3_ENST00000372004.3_Missense_Mutation_p.R258S|NCOA3_ENST00000371997.3_Missense_Mutation_p.R258S			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	258					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.R258S(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGGAGAAAGAACATTTCCAT	0.358																																																	1	Substitution - Missense(1)	kidney(1)											144.0	146.0	145.0					20																	46256718		2203	4300	6503	SO:0001583	missense	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.774A>T	20.37:g.46256718A>T	ENSP00000361066:p.Arg258Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954698	0.73902	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997;ENST00000542882	T;T;T;T	0.02345	4.35;4.52;4.52;4.33	5.73	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.11067	0.0270	M	0.69823	2.125	0.51767	D	0.999938	P;D;D;D;D;P	0.89917	0.944;1.0;0.996;0.991;0.967;0.944	P;D;P;P;P;P	0.91635	0.694;0.999;0.908;0.877;0.839;0.694	T	0.00950	-1.1503	10	0.52906	T	0.07	-24.7866	7.2888	0.26354	0.641:0.0:0.359:0.0	.	258;258;262;258;258;258	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	S	258;258;258;258;258;24	ENSP00000342123:R258S;ENSP00000361073:R258S;ENSP00000361066:R258S;ENSP00000361065:R258S	ENSP00000345671:R258S	R	+	3	2	NCOA3	45690125	0.997000	0.39634	0.993000	0.49108	0.730000	0.41778	2.157000	0.42320	1.005000	0.39183	0.533000	0.62120	AGA		0.358	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1		NM_006534	
NOL10	79954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	10811743	10811743	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr2:10811743delG	ENST00000381685.5	-	6	506	c.401delC	c.(400-402)ccafs	p.P134fs	NOL10_ENST00000345985.3_Frame_Shift_Del_p.P134fs|NOL10_ENST00000542668.1_Frame_Shift_Del_p.P84fs|NOL10_ENST00000538384.1_Frame_Shift_Del_p.P108fs	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	134						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CCCAAACTTTGGTATTCTGGT	0.343																																																	0													91.0	90.0	90.0					2																	10811743		2203	4299	6502	SO:0001589	frameshift_variant	79954			AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.401delC	2.37:g.10811743delG	ENSP00000371101:p.Pro134fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Frame_Shift_Del	DEL	ENST00000381685.5	37	CCDS1673.2																																																																																				0.343	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1		NM_024894	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52682446	52682446	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr3:52682446T>A	ENST00000296302.7	-	7	728	c.727A>T	c.(727-729)Aaa>Taa	p.K243*	PBRM1_ENST00000409114.3_Nonsense_Mutation_p.K243*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.K243*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.K243*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.K243*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.K243*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.K243*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.K243*			Q86U86	PB1_HUMAN	polybromo 1	243	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K243*(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGAATACTTTTGTAGCTTCCA	0.328			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											159.0	155.0	156.0					3																	52682446		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.727A>T	3.37:g.52682446T>A	ENSP00000296302:p.Lys243*	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	38	6.648921	0.97734	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.68	5.68	0.88126	.	0.160372	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8437	15.6013	0.76628	0.0:0.0:0.0:1.0	.	.	.	.	X	243;243;243;243;243;243;243;243;243;187	.	ENSP00000296302:K243X	K	-	1	0	PBRM1	52657486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.340000	0.79292	2.164000	0.68074	0.528000	0.53228	AAA		0.328	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PICALM	8301	hgsc.bcm.edu;ucsc.edu	37	11	85742542	85742550	+	In_Frame_Del	DEL	GTAATGAGA	GTAATGAGA	-			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	GTAATGAGA	GTAATGAGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr11:85742542_85742550delGTAATGAGA	ENST00000393346.3	-	2	382_390	c.234_242delTCTCATTAC	c.(232-243)tctctcattaca>tca	p.LIT79del	PICALM_ENST00000532317.1_In_Frame_Del_p.LIT79del|PICALM_ENST00000528398.1_In_Frame_Del_p.LIT28del|PICALM_ENST00000526033.1_In_Frame_Del_p.LIT79del|PICALM_ENST00000356360.5_In_Frame_Del_p.LIT79del|PICALM_ENST00000528411.1_5'UTR			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	79	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				ATGATGAGTTGTAATGAGAGATTTGAAGA	0.359			T	"""MLLT10, MLL"""	"""TALL, AML, """																																			Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0																																										SO:0001651	inframe_deletion	8301			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.234_242delTCTCATTAC	11.37:g.85742542_85742550delGTAATGAGA	ENSP00000377015:p.Leu79_Thr81del	Somatic		WXS	Illumina HiSeq	Phase_I	B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	In_Frame_Del	DEL	ENST00000393346.3	37	CCDS8272.1																																																																																				0.359	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1		NM_007166	
PLA2G4E	123745	hgsc.bcm.edu	37	15	42302330	42302331	+	In_Frame_Ins	INS	-	-	CCC	rs267604201|rs55746726|rs202221046	byFrequency	TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr15:42302330_42302331insCCC	ENST00000413860.2	-	1	114_115	c.115_116insGGG	c.(115-117)gcc>gGGGcc	p.38_39insG	CTD-2382E5.2_ENST00000552704.1_RNA|PLA2G4E_ENST00000399518.3_Intron			Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	48	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CAGAACACTGGCCCCCCCACCC	0.594																																																	0										31,154,2,709,30,27,2681		3,3,0,14,1,0,7,50,0,12,5,2,32,0,2,0,0,0,174,14,10,309,3,0,4,3,9,1160						-0.0	0.0		dbSNP_130	62	31,182,0,1316,52,50,6229		3,0,0,17,0,1,7,33,0,26,1,8,81,0,0,0,0,0,240,23,6,764,6,1,15,4,26,2668	no	intron	PLA2G4E	NM_001206670.1		6,3,0,31,1,1,14,83,0,38,6,10,113,0,2,0,0,0,414,37,16,1073,9,1,19,7,35,3828	A1A1,A1A2,A1A3,A1A4,A1A5,A1A6,A1R,A2A2,A2A3,A2A4,A2A5,A2A6,A2R,A3A3,A3A4,A3A5,A3A6,A3R,A4A4,A4A5,A4A6,A4R,A5A5,A5A6,A5R,A6A6,A6R,RR		20.7506,26.2245,22.4813				62,336,2,2025,82,77,8910				SO:0001652	inframe_insertion	123745				CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000413860.2:c.113_115dupGGG	15.37:g.42302334_42302336dupCCC	ENSP00000413897:p.Gly38_Gly38dup	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZSC0	In_Frame_Ins	INS	ENST00000413860.2	37																																																																																					0.594	PLA2G4E-201	KNOWN	basic	protein_coding	protein_coding			NM_198442	
PLIN4	729359	hgsc.bcm.edu	37	19	4511539	4511539	+	Missense_Mutation	SNP	C	C	G	rs111868968|rs66701788	byFrequency	TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr19:4511539C>G	ENST00000301286.3	-	3	2390	c.2391G>C	c.(2389-2391)aaG>aaC	p.K797N		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	797	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)		p.K797N(1)|p.K725N(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GGACGGCCCCCTTGGCCACAT	0.612																																																	2	Substitution - Missense(2)	kidney(2)											122.0	154.0	143.0					19																	4511539		2115	4232	6347	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2391G>C	19.37:g.4511539C>G	ENSP00000301286:p.Lys797Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	c	14.87	2.663289	0.47572	.	.	ENSG00000167676	ENST00000301286	T	0.06449	3.3	4.58	-7.01	0.01594	.	0.189787	0.25222	U	0.032239	T	0.20941	0.0504	M	0.87038	2.855	0.20638	N	0.99988	D	0.56287	0.975	P	0.57468	0.821	T	0.30149	-0.9988	10	0.54805	T	0.06	-6.9791	19.9487	0.97192	0.0:0.7894:0.0:0.2106	.	797	Q96Q06	PLIN4_HUMAN	N	797	ENSP00000301286:K797N	ENSP00000301286:K797N	K	-	3	2	PLIN4	4462539	0.000000	0.05858	0.064000	0.19789	0.002000	0.02628	-1.994000	0.01474	-2.189000	0.00758	-0.598000	0.04106	AAG		0.612	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1		XM_170901	
POM121C	100101267	broad.mit.edu;hgsc.bcm.edu	37	7	75066894	75066894	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr7:75066894A>G	ENST00000257665.5	-	5	1104	c.1105T>C	c.(1105-1107)Tct>Cct	p.S369P	POM121C_ENST00000473168.1_5'Flank|POM121C_ENST00000453279.2_Missense_Mutation_p.S127P			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	369	Pore side. {ECO:0000255}.|Required for targeting to the nucleus and nuclear pore complex.|Ser-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)		p.S127P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTCATGGAAGAGCTTCGGGAT	0.498																																																	1	Substitution - Missense(1)	kidney(1)											129.0	137.0	134.0					7																	75066894		2203	4300	6503	SO:0001583	missense	100101267				CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.1105T>C	7.37:g.75066894A>G	ENSP00000257665:p.Ser369Pro	Somatic		WXS	Illumina HiSeq	Phase_I	O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37		.	.	.	.	.	.	.	.	.	.	A	14.09	2.431473	0.43122	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.20463	2.07;2.07	4.17	4.17	0.49024	.	0.000000	0.40728	N	0.001026	T	0.31295	0.0792	M	0.84082	2.675	0.47065	D	0.999304	P	0.51351	0.944	P	0.44394	0.448	T	0.33033	-0.9884	10	0.72032	D	0.01	.	11.2716	0.49142	1.0:0.0:0.0:0.0	.	369	A8CG34	P121C_HUMAN	P	369;127	ENSP00000257665:S369P;ENSP00000414208:S127P	ENSP00000257665:S369P	S	-	1	0	POM121C	74904830	1.000000	0.71417	0.978000	0.43139	0.014000	0.08584	5.417000	0.66423	1.668000	0.50843	0.413000	0.27773	TCT		0.498	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2		NM_001099415	
PRPF31	26121	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54625914	54625914	+	Silent	SNP	A	A	C			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr19:54625914A>C	ENST00000321030.4	+	5	710	c.361A>C	c.(361-363)Aga>Cga	p.R121R	AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000419967.1_Silent_p.R121R|PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000391755.1_Silent_p.R121R	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	121					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)	p.R121R(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTACTCAAAGAGATTCCCTGA	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											235.0	208.0	217.0					19																	54625914		2203	4300	6503	SO:0001819	synonymous_variant	26121			AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"""PRP31 pre-mRNA processing factor 31 homolog (yeast)"", ""PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"""	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.361A>C	19.37:g.54625914A>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q17RB4|Q8N7F9|Q9H271|Q9Y439	Silent	SNP	ENST00000321030.4	37	CCDS12879.1																																																																																				0.542	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2			
RBM12	10137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	34242653	34242653	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr20:34242653A>G	ENST00000374114.3	-	3	855	c.592T>C	c.(592-594)Tct>Cct	p.S198P	CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.S198P|RBM12_ENST00000359646.1_Missense_Mutation_p.S198P|CPNE1_ENST00000397446.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	198	Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S198P(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGTGGCAGAGATGGCATCGCT	0.557																																																	1	Substitution - Missense(1)	kidney(1)											138.0	104.0	116.0					20																	34242653		2203	4300	6503	SO:0001583	missense	10137			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.592T>C	20.37:g.34242653A>G	ENSP00000363228:p.Ser198Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	A	9.203	1.029050	0.19512	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000424458	T;T;T;T	0.26957	2.37;2.37;2.37;1.7	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.21186	0.0510	N	0.08118	0	0.80722	D	1	D	0.60575	0.988	P	0.53313	0.723	T	0.05257	-1.0896	10	0.42905	T	0.14	-12.6978	10.9383	0.47257	0.8604:0.0:0.0:0.1396	.	198	Q9NTZ6	RBM12_HUMAN	P	198	ENSP00000363228:S198P;ENSP00000352668:S198P;ENSP00000363217:S198P;ENSP00000411036:S198P	ENSP00000352668:S198P	S	-	1	0	RBM12	33706067	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.234000	0.51320	2.313000	0.78055	0.454000	0.30748	TCT		0.557	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1		NM_006047	
R3HDML	140902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	42965937	42965937	+	Missense_Mutation	SNP	T	T	C	rs557561742		TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr20:42965937T>C	ENST00000217043.2	+	1	312	c.140T>C	c.(139-141)cTg>cCg	p.L47P		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	47						extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)	p.L47P(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CTGAGTGGCCTGGAGGTGCCC	0.607																																																	1	Substitution - Missense(1)	kidney(1)											49.0	47.0	48.0					20																	42965937		2203	4300	6503	SO:0001583	missense	140902			BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing-like"""				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.140T>C	20.37:g.42965937T>C	ENSP00000217043:p.Leu47Pro	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000217043.2	37	CCDS13329.1	.	.	.	.	.	.	.	.	.	.	T	5.977	0.364296	0.11296	.	.	ENSG00000101074	ENST00000217043	T	0.09350	2.99	5.18	4.05	0.47172	CAP domain (1);	0.416862	0.22393	N	0.060648	T	0.07143	0.0181	L	0.34521	1.04	0.50039	D	0.999846	B	0.15930	0.015	B	0.12837	0.008	T	0.29671	-1.0004	10	0.35671	T	0.21	.	2.7064	0.05163	0.2057:0.2281:0.0:0.5662	.	47	Q9H3Y0	CRSPL_HUMAN	P	47	ENSP00000217043:L47P	ENSP00000217043:L47P	L	+	2	0	R3HDML	42399351	0.000000	0.05858	0.998000	0.56505	0.036000	0.12997	-0.012000	0.12699	1.958000	0.56883	0.317000	0.21355	CTG		0.607	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1		NM_178491	
SCN1A	6323	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	166898839	166898839	+	Silent	SNP	T	T	C			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr2:166898839T>C	ENST00000303395.4	-	12	2138	c.2139A>G	c.(2137-2139)gcA>gcG	p.A713A	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.A702A|SCN1A_ENST00000409050.1_Silent_p.A685A|SCN1A_ENST00000423058.2_Silent_p.A713A|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	713					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.A713A(1)|p.A702A(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTATACTCATTGCTCGTTGCC	0.363																																																	2	Substitution - coding silent(2)	kidney(2)											152.0	143.0	146.0					2																	166898839		2203	4300	6503	SO:0001819	synonymous_variant	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2139A>G	2.37:g.166898839T>C		Somatic		WXS	Illumina HiSeq	Phase_I	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	CCDS54413.1																																																																																				0.363	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1		NM_006920	
SH3TC1	54436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	8224578	8224578	+	Missense_Mutation	SNP	C	C	T	rs200988451	byFrequency	TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr4:8224578C>T	ENST00000245105.3	+	10	1191	c.1124C>T	c.(1123-1125)gCg>gTg	p.A375V	SH3TC1_ENST00000539824.1_Missense_Mutation_p.A299V	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	375								p.A375V(1)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TTGGAAAGTGCGATTTTTCTC	0.433													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21908	0.0		0.0	False		,,,				2504	0.0				NSCLC(145;2298 2623 35616 37297)												1	Substitution - Missense(1)	kidney(1)											57.0	56.0	56.0					4																	8224578		2203	4300	6503	SO:0001583	missense	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1124C>T	4.37:g.8224578C>T	ENSP00000245105:p.Ala375Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	CCDS3399.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.529	-0.858583	0.02610	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265;ENST00000508641	T;T;T	0.75589	-0.95;-0.93;0.55	4.31	-1.04	0.10068	Src homology-3 domain (1);	1.033790	0.07698	N	0.939833	T	0.50394	0.1613	N	0.10874	0.06	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.28618	-1.0038	10	0.10111	T	0.7	-6.8965	8.2829	0.31910	0.0:0.4556:0.0:0.5444	.	375	Q8TE82	S3TC1_HUMAN	V	113;375;299;204;157	ENSP00000245105:A375V;ENSP00000441045:A299V;ENSP00000426035:A157V	ENSP00000245105:A375V	A	+	2	0	SH3TC1	8275478	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.197000	0.17197	-0.506000	0.06558	-0.367000	0.07326	GCG		0.433	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2		NM_018986	
SIRPD	128646	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	1532510	1532510	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr20:1532510A>G	ENST00000381623.3	-	2	1437	c.248T>C	c.(247-249)tTt>tCt	p.F83S	SIRPD_ENST00000381621.1_Missense_Mutation_p.F83S			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	83	Ig-like V-type.					extracellular region (GO:0005576)		p.F83S(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TACTCTGGGAAAGTTACCTTG	0.463																																																	1	Substitution - Missense(1)	kidney(1)											155.0	155.0	155.0					20																	1532510		2203	4300	6503	SO:0001583	missense	128646			AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16248	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type substrate 1-like 2"""	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.248T>C	20.37:g.1532510A>G	ENSP00000371036:p.Phe83Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B3KS88|Q5TFQ6	Missense_Mutation	SNP	ENST00000381623.3	37	CCDS13018.1	.	.	.	.	.	.	.	.	.	.	.	17.95	3.513306	0.64522	.	.	ENSG00000125900	ENST00000381623;ENST00000381621	T;T	0.62788	-0.0;-0.0	4.03	-0.01	0.13998	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.575507	0.13879	U	0.356447	T	0.47451	0.1446	L	0.60904	1.88	0.09310	N	1	P	0.39352	0.669	B	0.35770	0.21	T	0.30149	-0.9988	10	0.26408	T	0.33	.	2.8748	0.05628	0.4942:0.0:0.114:0.3918	.	83	Q9H106	SIRPD_HUMAN	S	83	ENSP00000371036:F83S;ENSP00000371034:F83S	ENSP00000371034:F83S	F	-	2	0	SIRPD	1480510	0.001000	0.12720	0.029000	0.17559	0.821000	0.46438	0.243000	0.18106	0.192000	0.20272	0.456000	0.33151	TTT		0.463	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1		NM_178460	
SLC25A20	788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	48900024	48900024	+	Silent	SNP	C	C	T			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr3:48900024C>T	ENST00000319017.4	-	5	684	c.486G>A	c.(484-486)gaG>gaA	p.E162E	SLC25A20_ENST00000430379.1_Silent_p.E89E|SLC25A20_ENST00000544097.1_Silent_p.E112E	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	162					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.E162E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	GGATCCCAAACTCCTGGTACA	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											131.0	113.0	119.0					3																	48900024		2203	4300	6503	SO:0001819	synonymous_variant	788			Y10319	CCDS2779.1	3p21.31	2013-05-22			ENSG00000178537	ENSG00000178537		"""Solute carriers"""	1421	protein-coding gene	gene with protein product	"""carnitine-acylcarnitine carrier"", ""carnitine/acylcarnitine translocase"""	613698		CACT		9399886, 9533014	Standard	NM_000387		Approved	CAC	uc003cva.4	O43772	OTTHUMG00000133538	ENST00000319017.4:c.486G>A	3.37:g.48900024C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R7F4|Q9UIQ2	Silent	SNP	ENST00000319017.4	37	CCDS2779.1																																																																																				0.517	SLC25A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257516.2		NM_000387	
SLC15A2	6565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	121647359	121647359	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr3:121647359A>C	ENST00000489711.1	+	15	1686	c.1298A>C	c.(1297-1299)aAt>aCt	p.N433T	SLC15A2_ENST00000295605.2_Missense_Mutation_p.N402T|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	433					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)	p.N433T(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GTGGTGGGAAATGAAAACAAT	0.438																																																	1	Substitution - Missense(1)	kidney(1)											185.0	193.0	190.0					3																	121647359		2203	4300	6503	SO:0001583	missense	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1298A>C	3.37:g.121647359A>C	ENSP00000417085:p.Asn433Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	A	0.669	-0.802606	0.02841	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.04234	3.67;3.67	5.65	3.16	0.36331	.	0.690295	0.16335	N	0.218958	T	0.02727	0.0082	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.16722	0.007;0.016	T	0.48779	-0.9005	10	0.12766	T	0.61	-1.9947	5.8567	0.18724	0.7485:0.1667:0.0848:0.0	.	402;433	B4E2A7;Q16348	.;S15A2_HUMAN	T	433;395;402	ENSP00000417085:N433T;ENSP00000295605:N402T	ENSP00000295605:N402T	N	+	2	0	SLC15A2	123130049	0.012000	0.17670	0.010000	0.14722	0.242000	0.25591	1.094000	0.30951	0.506000	0.28125	0.533000	0.62120	AAT		0.438	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1		NM_021082	
SLC38A9	153129	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	54965131	54965131	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr5:54965131T>G	ENST00000396865.2	-	7	1042	c.451A>C	c.(451-453)Atg>Ctg	p.M151L	SLC38A9_ENST00000318672.3_Missense_Mutation_p.M151L|SLC38A9_ENST00000515629.1_Missense_Mutation_p.M88L|SLC38A9_ENST00000416547.2_Missense_Mutation_p.M27L|SLC38A9_ENST00000539768.1_Missense_Mutation_p.M151L|SLC38A9_ENST00000512595.1_Missense_Mutation_p.M124L	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	151					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.M151L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				ATGACACACATTCCAGTAGTA	0.323																																																	1	Substitution - Missense(1)	kidney(1)											155.0	159.0	158.0					5																	54965131		2203	4300	6503	SO:0001583	missense	153129				CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.451A>C	5.37:g.54965131T>G	ENSP00000380074:p.Met151Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Missense_Mutation	SNP	ENST00000396865.2	37	CCDS3968.1	.	.	.	.	.	.	.	.	.	.	T	10.51	1.371494	0.24771	.	.	ENSG00000177058	ENST00000396865;ENST00000318672;ENST00000539768;ENST00000515629;ENST00000416547;ENST00000512595;ENST00000511233;ENST00000512208;ENST00000503817	T;T;T;T;T;T;T;T;T	0.01629	4.72;4.72;4.72;4.72;4.72;4.72;4.72;4.72;4.72	5.29	4.12	0.48240	.	0.271171	0.47852	D	0.000210	T	0.00936	0.0031	N	0.03608	-0.345	0.36170	D	0.848723	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.51545	-0.8692	10	0.13853	T	0.58	-12.1212	7.8341	0.29360	0.0:0.2306:0.0:0.7694	.	124;151	B3KXV1;Q8NBW4	.;S38A9_HUMAN	L	151;151;151;88;27;124;151;88;88	ENSP00000380074:M151L;ENSP00000316596:M151L;ENSP00000437771:M151L;ENSP00000420934:M88L;ENSP00000397429:M27L;ENSP00000427335:M124L;ENSP00000423219:M151L;ENSP00000426413:M88L;ENSP00000424918:M88L	ENSP00000316596:M151L	M	-	1	0	SLC38A9	55000888	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.383000	0.34385	0.949000	0.37715	0.528000	0.53228	ATG		0.323	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2		NM_173514	
SLC46A3	283537	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	29287320	29287320	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr13:29287320G>A	ENST00000266943.6	-	3	926	c.557C>T	c.(556-558)tCa>tTa	p.S186L	SLC46A3_ENST00000380814.4_Missense_Mutation_p.S186L	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	186					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S186L(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		ATAGCCAGATGACAGTCCTGT	0.338																																																	2	Substitution - Missense(2)	kidney(2)											57.0	55.0	55.0					13																	29287320		2203	4300	6503	SO:0001583	missense	283537				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.557C>T	13.37:g.29287320G>A	ENSP00000266943:p.Ser186Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	ENST00000266943.6	37	CCDS9332.1	.	.	.	.	.	.	.	.	.	.	G	0.546	-0.851717	0.02651	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.43688	0.94;0.94	6.17	4.45	0.53987	Major facilitator superfamily domain, general substrate transporter (1);	0.239685	0.43579	N	0.000552	T	0.34629	0.0904	L	0.43757	1.38	0.30034	N	0.813233	B;P;P	0.40000	0.003;0.649;0.698	B;B;B	0.36845	0.011;0.15;0.234	T	0.13098	-1.0522	10	0.24483	T	0.36	-9.1356	14.4727	0.67526	0.1641:0.0:0.8359:0.0	.	111;186;186	B5MEH0;Q7Z3Q1-2;Q7Z3Q1	.;.;S46A3_HUMAN	L	186	ENSP00000266943:S186L;ENSP00000370192:S186L	ENSP00000266943:S186L	S	-	2	0	SLC46A3	28185320	1.000000	0.71417	0.303000	0.25071	0.487000	0.33371	3.543000	0.53633	0.506000	0.28125	-1.731000	0.00696	TCA		0.338	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1		NM_181785	
SLC8A1	6546	broad.mit.edu;hgsc.bcm.edu	37	2	40342426	40342426	+	Silent	SNP	G	G	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr2:40342426G>A	ENST00000403092.1	-	11	2922	c.2889C>T	c.(2887-2889)tcC>tcT	p.S963S	SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.S958S|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000406391.2_Silent_p.S927S|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.S927S|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.S927S|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000406785.2_Silent_p.S927S|SLC8A1_ENST00000405269.1_Silent_p.S927S|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.S955S|SLC8A1_ENST00000332839.4_Silent_p.S963S|SLC8A1_ENST00000405901.3_Silent_p.S958S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	963					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.S963S(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGGCCTCCAGGGAGGAGAAGA	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											44.0	50.0	48.0					2																	40342426		2203	4300	6503	SO:0001819	synonymous_variant	6546				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2889C>T	2.37:g.40342426G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	CCDS1806.1																																																																																				0.428	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1		NM_021097	
SCAF11	9169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	46328263	46328263	+	Silent	SNP	T	T	C			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr12:46328263T>C	ENST00000369367.3	-	7	722	c.489A>G	c.(487-489)ggA>ggG	p.G163G	SCAF11_ENST00000549162.1_5'UTR|SCAF11_ENST00000419565.2_Silent_p.G163G	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	163					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G163G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTTTCTTTCCTCCTGTTTCAC	0.299																																																	1	Substitution - coding silent(1)	kidney(1)											148.0	136.0	140.0					12																	46328263		1812	4073	5885	SO:0001819	synonymous_variant	0			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.489A>G	12.37:g.46328263T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	37	CCDS8748.2																																																																																				0.299	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2		NM_004719	
SRGAP1	57522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	64536075	64536075	+	Splice_Site	SNP	G	G	C			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr12:64536075G>C	ENST00000355086.3	+	22	3405	c.2881G>C	c.(2881-2883)Gat>Cat	p.D961H	SRGAP1_ENST00000357825.3_Splice_Site_p.D938H|SRGAP1_ENST00000543397.1_Splice_Site_p.D898H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	961					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.D961H(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCTTCAATAGGATATTGAAGA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											49.0	54.0	52.0					12																	64536075		2203	4300	6503	SO:0001630	splice_region_variant	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.2881-1G>C	12.37:g.64536075G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604290	0.66445	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.32988	2.41;2.0;1.43	5.85	5.85	0.93711	.	0.000000	0.35805	U	0.002979	T	0.56877	0.2015	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.50250	-0.8850	9	.	.	.	.	20.1542	0.98100	0.0:0.0:1.0:0.0	.	961;898	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	H	961;938;898	ENSP00000347198:D961H;ENSP00000350480:D938H;ENSP00000437948:D898H	.	D	+	1	0	SRGAP1	62822342	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	9.787000	0.99055	2.767000	0.95098	0.563000	0.77884	GAT		0.423	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			Missense_Mutation
SYT7	9066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61323583	61323583	+	Missense_Mutation	SNP	C	C	G	rs368577686		TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr11:61323583C>G	ENST00000263846.4	-	2	455	c.128G>C	c.(127-129)cGc>cCc	p.R43P	SYT7_ENST00000542836.1_Missense_Mutation_p.R43P|SYT7_ENST00000535826.1_Missense_Mutation_p.R43P|SYT7_ENST00000539008.1_Missense_Mutation_p.R43P|SYT7_ENST00000540677.1_Missense_Mutation_p.R43P|SYT7_ENST00000542670.1_Missense_Mutation_p.R43P	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	43					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.R43P(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACCAGTTTGCGCTGACACCA	0.642																																																	1	Substitution - Missense(1)	kidney(1)											48.0	41.0	43.0					11																	61323583		2202	4299	6501	SO:0001583	missense	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.128G>C	11.37:g.61323583C>G	ENSP00000263846:p.Arg43Pro	Somatic		WXS	Illumina HiSeq	Phase_I	F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930414	0.92389	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.75938	-0.2;-0.98;-0.39;-0.5;-0.66;-0.63;0.74	4.98	4.98	0.66077	.	0.140011	0.46145	D	0.000303	T	0.79545	0.4464	L	0.27053	0.805	0.49389	D	0.999787	D;D	0.71674	0.998;0.996	D;D	0.75484	0.986;0.969	T	0.81282	-0.1003	10	0.52906	T	0.07	.	18.2399	0.89963	0.0:1.0:0.0:0.0	.	43;43	F5GZU9;O43581	.;SYT7_HUMAN	P	43	ENSP00000263846:R43P;ENSP00000444201:R43P;ENSP00000439694:R43P;ENSP00000444568:R43P;ENSP00000444019:R43P;ENSP00000437720:R43P;ENSP00000443576:R43P	ENSP00000263846:R43P	R	-	2	0	SYT7	61080159	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.769000	0.68865	2.460000	0.83146	0.591000	0.81541	CGC		0.642	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1		NM_004200	
TARS	6897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	33467768	33467768	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr5:33467768G>T	ENST00000265112.3	+	19	2438	c.2127G>T	c.(2125-2127)caG>caT	p.Q709H	TARS_ENST00000541634.1_Missense_Mutation_p.Q605H|TARS_ENST00000414361.2_Missense_Mutation_p.Q588H|TARS_ENST00000502553.1_Missense_Mutation_p.Q709H|TARS_ENST00000455217.2_Missense_Mutation_p.Q742H	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	709					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.Q709H(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AGCGGCTACAGCAGCTCAAAG	0.438																																																	1	Substitution - Missense(1)	kidney(1)											49.0	52.0	51.0					5																	33467768		2203	4300	6503	SO:0001583	missense	6897			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.2127G>T	5.37:g.33467768G>T	ENSP00000265112:p.Gln709His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	g	13.78	2.338095	0.41398	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	5.2	4.32	0.51571	Anticodon-binding (3);	0.391259	0.29046	N	0.013308	T	0.81336	0.4801	L	0.45422	1.42	0.32836	D	0.504677	B;P;B;P	0.45715	0.002;0.865;0.346;0.783	B;P;B;P	0.50314	0.014;0.637;0.21;0.637	D	0.84875	0.0827	10	0.54805	T	0.06	-14.1445	8.9824	0.35972	0.0758:0.0:0.7794:0.1449	.	588;742;605;709	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	H	709;709;605;742;588	ENSP00000424387:Q709H;ENSP00000265112:Q709H;ENSP00000438469:Q605H;ENSP00000387710:Q742H;ENSP00000394291:Q588H	ENSP00000265112:Q709H	Q	+	3	2	TARS	33503525	0.519000	0.26242	1.000000	0.80357	0.945000	0.59286	0.874000	0.28065	2.418000	0.82041	0.557000	0.71058	CAG		0.438	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1		NM_152295	
TFDP2	7029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	141697381	141697381	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr3:141697381T>G	ENST00000489671.1	-	7	930	c.500A>C	c.(499-501)aAc>aCc	p.N167T	TFDP2_ENST00000397991.4_Missense_Mutation_p.N139T|TFDP2_ENST00000477292.1_Missense_Mutation_p.N31T|TFDP2_ENST00000486111.1_Missense_Mutation_p.N106T|TFDP2_ENST00000467072.1_Missense_Mutation_p.N106T|TFDP2_ENST00000310282.6_Missense_Mutation_p.N106T|TFDP2_ENST00000479040.1_Missense_Mutation_p.N106T|TFDP2_ENST00000495310.1_Missense_Mutation_p.N70T|TFDP2_ENST00000499676.2_Missense_Mutation_p.N106T|TFDP2_ENST00000464782.1_5'UTR|TFDP2_ENST00000317104.7_Missense_Mutation_p.N90T			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	167					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.N167T(1)		kidney(1)|upper_aerodigestive_tract(2)	3						AGCCAAATGGTTATTTGAATT	0.368																																																	1	Substitution - Missense(1)	kidney(1)											176.0	167.0	170.0					3																	141697381		1990	4183	6173	SO:0001583	missense	7029			U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.500A>C	3.37:g.141697381T>G	ENSP00000420616:p.Asn167Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	ENST00000489671.1	37	CCDS54650.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304448	0.40795	.	.	ENSG00000114126	ENST00000499676;ENST00000489671;ENST00000486111;ENST00000477292;ENST00000495310;ENST00000467072;ENST00000317104;ENST00000310282;ENST00000479040;ENST00000397991;ENST00000467667;ENST00000478006;ENST00000497579	T;T;T;T;T;T;T;T;T;T;T;T	0.45668	1.85;1.86;1.85;0.9;0.89;1.85;1.85;1.85;1.88;1.87;1.48;1.52	5.52	4.37	0.52481	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.112351	0.56097	D	0.000027	T	0.39036	0.1063	M	0.62723	1.935	0.43467	D	0.995679	B;P;B	0.35793	0.242;0.521;0.082	B;B;B	0.36766	0.232;0.138;0.085	T	0.25222	-1.0138	10	0.51188	T	0.08	-7.921	7.5102	0.27569	0.0:0.2432:0.0:0.7568	.	70;167;106	B7Z8L5;Q14188;Q14188-5	.;TFDP2_HUMAN;.	T	106;167;106;31;70;106;90;106;106;139;106;80;106	ENSP00000439782:N106T;ENSP00000420616:N167T;ENSP00000420599:N106T;ENSP00000418971:N31T;ENSP00000419036:N70T;ENSP00000418590:N106T;ENSP00000315668:N90T;ENSP00000309622:N106T;ENSP00000417585:N106T;ENSP00000381078:N139T;ENSP00000417726:N106T;ENSP00000417220:N106T	ENSP00000309622:N106T	N	-	2	0	TFDP2	143180071	1.000000	0.71417	0.969000	0.41365	0.994000	0.84299	2.946000	0.49050	0.941000	0.37499	0.528000	0.53228	AAC		0.368	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4		NM_006286	
TLR4	7099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	120476405	120476405	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr9:120476405T>A	ENST00000355622.6	+	3	2100	c.1999T>A	c.(1999-2001)Tat>Aat	p.Y667N	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.Y627N	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	667					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.Y667N(1)|p.Y667H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CTGCATAAAGTATGGTAGAGG	0.423																																																	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											130.0	119.0	122.0					9																	120476405		2203	4300	6503	SO:0001583	missense	7099			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1999T>A	9.37:g.120476405T>A	ENSP00000363089:p.Tyr667Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	T	9.573	1.121441	0.20877	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.39997	1.36;1.05	6.03	3.44	0.39384	Toll/interleukin-1 receptor homology (TIR) domain (1);	0.420467	0.23127	N	0.051629	T	0.49474	0.1559	M	0.64404	1.975	0.09310	N	1	D	0.58268	0.982	P	0.56088	0.791	T	0.32877	-0.9890	10	0.36615	T	0.2	.	7.7045	0.28642	0.2008:0.067:0.0:0.7322	.	667	O00206	TLR4_HUMAN	N	627;667	ENSP00000377997:Y627N;ENSP00000363089:Y667N	ENSP00000363089:Y667N	Y	+	1	0	TLR4	119516226	0.009000	0.17119	0.655000	0.29622	0.148000	0.21650	1.021000	0.30040	1.095000	0.41419	-0.290000	0.09829	TAT		0.423	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3		NM_138554	
TMEM206	55248	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	212538685	212538685	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr1:212538685G>T	ENST00000261455.4	-	8	1062	c.925C>A	c.(925-927)Ctt>Att	p.L309I	TMEM206_ENST00000535273.1_Missense_Mutation_p.L370I	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	309						cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.L309I(1)		breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		CCACAGAGAAGAGCAATTGTG	0.358																																																	1	Substitution - Missense(1)	kidney(1)											131.0	132.0	132.0					1																	212538685		2203	4300	6503	SO:0001583	missense	55248			AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.925C>A	1.37:g.212538685G>T	ENSP00000261455:p.Leu309Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z4D6|Q6IA87|Q9NV85	Missense_Mutation	SNP	ENST00000261455.4	37	CCDS1504.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848703	0.71603	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	5.91	5.91	0.95273	.	0.108835	0.64402	D	0.000006	T	0.63307	0.2500	N	0.14661	0.345	0.49130	D	0.999751	P;D	0.71674	0.577;0.998	B;D	0.77557	0.121;0.99	T	0.62877	-0.6761	9	0.33940	T	0.23	-24.6622	20.3018	0.98617	0.0:0.0:1.0:0.0	.	370;309	B7Z4D6;Q9H813	.;TM206_HUMAN	I	309;370	.	ENSP00000261455:L309I	L	-	1	0	TMEM206	210605308	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	4.569000	0.60865	2.799000	0.96334	0.650000	0.86243	CTT		0.358	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1		NM_018252	
TNKS2	80351	hgsc.bcm.edu;ucsc.edu	37	10	93622703	93622703	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr10:93622703delG	ENST00000371627.4	+	27	3827	c.3448delG	c.(3448-3450)gagfs	p.E1150fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1150	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GGCTTATCCTGAGTATTTAAT	0.323																																																	0													77.0	76.0	76.0					10																	93622703		2203	4299	6502	SO:0001589	frameshift_variant	80351			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.3448delG	10.37:g.93622703delG	ENSP00000360689:p.Glu1150fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBD3|Q9H8F2|Q9HAS4	Frame_Shift_Del	DEL	ENST00000371627.4	37	CCDS7417.1																																																																																				0.323	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1		NM_025235	
TRIM32	22954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	119460981	119460981	+	Silent	SNP	T	T	C			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr9:119460981T>C	ENST00000450136.1	+	2	1121	c.960T>C	c.(958-960)gtT>gtC	p.V320V	ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Silent_p.V320V|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	320					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V320V(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CTACCTCTGTTACTTTTAGAG	0.572																																					Esophageal Squamous(92;212 1916 19711 26951)												1	Substitution - coding silent(1)	kidney(1)											44.0	45.0	45.0					9																	119460981		2203	4300	6503	SO:0001819	synonymous_variant	22954			U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.960T>C	9.37:g.119460981T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q9NQP8	Silent	SNP	ENST00000450136.1	37	CCDS6817.1																																																																																				0.572	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2		NM_012210	
SH2B1	25970	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	28857318	28857318	+	5'Flank	SNP	G	G	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr16:28857318G>A	ENST00000322610.8	+	0	0				MIR4721_ENST00000577590.1_RNA|TUFM_ENST00000313511.3_Silent_p.Y54Y			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.Y54Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TGTCGCGCACGTAAGTCTTCT	0.632																																																	1	Substitution - coding silent(1)	kidney(1)											71.0	61.0	64.0					16																	28857318		2197	4300	6497	SO:0001631	upstream_gene_variant	7284			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28857318G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Silent	SNP	ENST00000322610.8	37	CCDS53996.1																																																																																				0.632	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1		NM_015503	
UGT2B11	10720	broad.mit.edu;hgsc.bcm.edu	37	4	70066177	70066177	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr4:70066177T>G	ENST00000446444.1	-	6	1579	c.1571A>C	c.(1570-1572)aAg>aCg	p.K524T	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	524					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.K524T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTTCCCTTCTTCCCTTTTCT	0.368																																																	1	Substitution - Missense(1)	kidney(1)											104.0	106.0	105.0					4																	70066177		2203	4297	6500	SO:0001583	missense	10720			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1571A>C	4.37:g.70066177T>G	ENSP00000387683:p.Lys524Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	10.20	1.284713	0.23392	.	.	ENSG00000213759	ENST00000446444	T	0.61627	0.09	1.27	-0.0388	0.13878	.	0.433914	0.20041	U	0.100515	T	0.53367	0.1792	M	0.70595	2.14	0.22541	N	0.999001	B	0.26845	0.161	B	0.35899	0.213	T	0.51647	-0.8679	10	0.49607	T	0.09	.	4.7498	0.13056	0.2766:0.0:0.0:0.7234	.	524	O75310	UDB11_HUMAN	T	524	ENSP00000387683:K524T	ENSP00000387683:K524T	K	-	2	0	UGT2B11	70100766	0.137000	0.22531	0.032000	0.17829	0.007000	0.05969	0.063000	0.14410	0.004000	0.14682	-1.634000	0.00779	AAG		0.368	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2		NM_001073	
UTRN	7402	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	144806603	144806603	+	Missense_Mutation	SNP	A	A	G	rs375665025		TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr6:144806603A>G	ENST00000367545.3	+	27	3770	c.3770A>G	c.(3769-3771)aAg>aGg	p.K1257R		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1257					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.K1257R(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAGCGGATGAAGAGCACAGAG	0.478																																																	1	Substitution - Missense(1)	kidney(1)						A	ARG/LYS	0,4406		0,0,2203	211.0	202.0	205.0		3770	-0.7	0.1	6		205	1,8599	1.2+/-3.3	0,1,4299	no	missense	UTRN	NM_007124.2	26	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	1257/3434	144806603	1,13005	2203	4300	6503	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3770A>G	6.37:g.144806603A>G	ENSP00000356515:p.Lys1257Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.404916	0.42613	0.0	1.16E-4	ENSG00000152818	ENST00000367545	T	0.17213	2.29	5.12	-0.7	0.11273	.	0.580733	0.15254	N	0.272193	T	0.04770	0.0129	L	0.42245	1.32	0.49798	D	0.999824	B	0.02656	0.0	B	0.06405	0.002	T	0.33240	-0.9876	10	0.21014	T	0.42	.	9.7751	0.40614	0.7195:0.0:0.2805:0.0	.	1257	P46939	UTRO_HUMAN	R	1257	ENSP00000356515:K1257R	ENSP00000356515:K1257R	K	+	2	0	UTRN	144848296	1.000000	0.71417	0.060000	0.19600	0.956000	0.61745	3.709000	0.54853	-0.279000	0.09167	0.533000	0.62120	AAG		0.478	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			
VAV2	7410	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	136642527	136642527	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr9:136642527C>T	ENST00000371850.3	-	23	1980	c.1949G>A	c.(1948-1950)tGc>tAc	p.C650Y	VAV2_ENST00000371851.1_Missense_Mutation_p.C640Y|VAV2_ENST00000406606.3_Missense_Mutation_p.C640Y	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	650	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.C650Y(1)|p.C640Y(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		ATCCACAGGGCAGGGCTTCAC	0.582																																																	2	Substitution - Missense(2)	kidney(2)											141.0	135.0	137.0					9																	136642527		2203	4300	6503	SO:0001583	missense	7410				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1949G>A	9.37:g.136642527C>T	ENSP00000360916:p.Cys650Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	C	4.070	0.010735	0.07912	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.08458	3.09;3.09;3.09	4.43	4.43	0.53597	Src homology-3 domain (3);Variant SH3 (1);	0.049809	0.85682	D	0.000000	T	0.08044	0.0201	L	0.41573	1.285	0.46437	D	0.999045	B;B;B	0.23058	0.079;0.034;0.001	B;B;B	0.29176	0.099;0.022;0.017	T	0.05338	-1.0891	10	0.02654	T	1	.	15.4228	0.75025	0.0:1.0:0.0:0.0	.	640;650;640	P52735-2;P52735;P52735-3	.;VAV2_HUMAN;.	Y	650;640;640;640	ENSP00000360916:C650Y;ENSP00000360917:C640Y;ENSP00000385362:C640Y	ENSP00000317258:C640Y	C	-	2	0	VAV2	135632348	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.257000	0.58816	2.288000	0.76882	0.655000	0.94253	TGC		0.582	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			
VHL	7428	broad.mit.edu;hgsc.bcm.edu	37	3	10183794	10183794	+	Nonsense_Mutation	SNP	G	G	A	rs119103277		TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr3:10183794G>A	ENST00000256474.2	+	1	1103	c.263G>A	c.(262-264)tGg>tAg	p.W88*	VHL_ENST00000345392.2_Nonsense_Mutation_p.W88*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	88			W -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|W -> S (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.W88*(6)|p.W88L(3)|p.W88fs*71(3)|p.V87_W88del(2)|p.W88S(2)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(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)		CTGCCCGTATGGCTCAACTTC	0.726		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"""	19	Substitution - Nonsense(6)|Substitution - Missense(5)|Deletion - Frameshift(5)|Deletion - In frame(2)|Complex - deletion inframe(1)	kidney(17)|endometrium(1)|soft_tissue(1)	GRCh37	CM951277|HX971376	VHL	M|X	rs119103277						13.0	16.0	15.0					3																	10183794		2111	4166	6277	SO:0001587	stop_gained	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.263G>A	3.37:g.10183794G>A	ENSP00000256474:p.Trp88*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	36	5.880416	0.97062	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5857	16.0203	0.80478	0.0:0.0:1.0:0.0	.	.	.	.	X	88	.	ENSP00000256474:W88X	W	+	2	0	VHL	10158794	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	5.961000	0.70356	2.368000	0.80403	0.479000	0.44913	TGG		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
BCL11B	64919	broad.mit.edu	37	14	99641544	99641546	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr14:99641544_99641546delCTC	ENST00000357195.3	-	4	1636_1638	c.1627_1629delGAG	c.(1627-1629)gagdel	p.E543del	BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del|BCL11B_ENST00000345514.2_In_Frame_Del_p.E472del	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	543	Glu-rich.				alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCAGTAGCAGctcctcctcctcc	0.7			T	TLX3	T-ALL																																			Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0									,	259,3515		17,225,1645					,	1.8	1.0			6	544,6744		46,452,3146	no	coding,coding	BCL11B	NM_138576.2,NM_022898.1	,	63,677,4791	A1A1,A1R,RR		7.4643,6.8627,7.2591	,	,		803,10259				SO:0001651	inframe_deletion	64919			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1627_1629delGAG	14.37:g.99641553_99641555delCTC	ENSP00000349723:p.Glu543del	Somatic		WXS	Illumina GAIIx	Phase_I	Q9H162	In_Frame_Del	DEL	ENST00000357195.3	37	CCDS9950.1																																																																																				0.700	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2		NM_138576	
DDX12P	440081	broad.mit.edu	37	12	9571406	9571406	+	IGR	SNP	C	C	T			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr12:9571406C>T								RP13-735L24.1 (21193 upstream) : SNORA75 (26247 downstream)														p.S885N(1)									CCAAAGGTAGCTTTGACCTCC	0.592																																																	1	Substitution - Missense(1)	kidney(1)											42.0	52.0	49.0					12																	9571406		687	1591	2278	SO:0001628	intergenic_variant	0																															12.37:g.9571406C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.592									
DYNC1H1	1778	broad.mit.edu	37	14	102431128	102431132	+	Frame_Shift_Del	DEL	CTGCG	CTGCG	-			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	CTGCG	CTGCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr14:102431128_102431132delCTGCG	ENST00000360184.4	+	1	264_268	c.100_104delCTGCG	c.(100-105)ctgcgcfs	p.LR34fs		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	34					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCAGAAGCACCTGCGCAAGCTGGTG	0.722																																																	0																																										SO:0001589	frameshift_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.100_104delCTGCG	14.37:g.102431128_102431132delCTGCG	ENSP00000348965:p.Leu34fs	Somatic		WXS	Illumina GAIIx	Phase_I	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Frame_Shift_Del	DEL	ENST00000360184.4	37	CCDS9966.1																																																																																				0.722	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1		NM_001376	
KIF26A	26153	broad.mit.edu	37	14	104643367	104643367	+	Silent	SNP	G	G	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr14:104643367G>A	ENST00000423312.2	+	12	4242	c.4242G>A	c.(4240-4242)agG>agA	p.R1414R	KIF26A_ENST00000315264.7_Silent_p.R1275R	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1414					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.R1414R(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CTGTCCCCAGGGCCACGTCCA	0.692																																																	1	Substitution - coding silent(1)	kidney(1)											7.0	11.0	10.0					14																	104643367		1988	4025	6013	SO:0001819	synonymous_variant	26153			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.4242G>A	14.37:g.104643367G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																				0.692	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			
Unknown	0	broad.mit.edu	37	13	19420047	19420053	+	IGR	DEL	TTCGTAT	TTCGTAT	-	rs9506853|rs377510750	byFrequency	TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	TTCGTAT	TTCGTAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr13:19420047_19420053delTTCGTAT								LINC00418 (126178 upstream) : RP11-38M15.11 (13913 downstream)																							ATAACATTTCTTCGTATTTTATATTTT	0.246																																																	0																																										SO:0001628	intergenic_variant	0																															13.37:g.19420047_19420053delTTCGTAT		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL		37																																																																																				0	0.246									
FTH1P3	2498	broad.mit.edu	37	5	17354457	17354457	+	lincRNA	SNP	T	T	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr5:17354457T>A	ENST00000511821.1	+	0	316				FTH1P10_ENST00000401830.3_RNA																							GAGCTCCAGGTTGATCTGGCG	0.552																																																	0																																												0																															5.37:g.17354457T>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000511821.1	37																																																																																					0.552	CTD-2139B15.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366261.1			
LSP1P3	729862	broad.mit.edu	37	5	28927394	28927394	+	IGR	SNP	C	C	T			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr5:28927394C>T								CTD-2134P3.1 (118038 upstream) : SNORA18 (143208 downstream)																							ACTCAGGCAGCGTCATGATAA	0.433																																																	0																																										SO:0001628	intergenic_variant	0																															5.37:g.28927394C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.433									
