#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
AFF3	3899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	100625302	100625302	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr2:100625302C>G	ENST00000409236.2	-	3	258	c.146G>C	c.(145-147)aGt>aCt	p.S49T	AFF3_ENST00000356421.2_Missense_Mutation_p.S74T|AFF3_ENST00000317233.4_Missense_Mutation_p.S49T|AFF3_ENST00000409579.1_Missense_Mutation_p.S74T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	49					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.S74T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GAGAGAGTAACTAGAATTAAA	0.428																																																	1	Substitution - Missense(1)	kidney(1)											276.0	233.0	248.0					2																	100625302		2203	4300	6503	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.146G>C	2.37:g.100625302C>G	ENSP00000387207:p.Ser49Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335336	0.60853	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288;ENST00000432037;ENST00000423966;ENST00000441400;ENST00000424600;ENST00000416492;ENST00000440445	T;T;T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.97	5.97	0.96955	.	0.090837	0.48767	D	0.000176	T	0.66944	0.2841	L	0.40543	1.245	0.25729	N	0.985296	P;P;P;P	0.51351	0.944;0.808;0.84;0.808	P;B;B;B	0.50860	0.652;0.26;0.378;0.26	T	0.62996	-0.6735	10	0.66056	D	0.02	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	203;203;49;74	B7Z4I6;C9JXV5;P51826;P51826-2	.;.;AFF3_HUMAN;.	T	49;74;74;49;49;203;74;49;49;49;49;49;126	ENSP00000317421:S49T;ENSP00000348793:S74T;ENSP00000386834:S74T;ENSP00000387207:S49T;ENSP00000406484:S49T;ENSP00000396582:S49T;ENSP00000399795:S49T;ENSP00000411383:S49T;ENSP00000395068:S49T;ENSP00000393732:S126T	ENSP00000317421:S49T	S	-	2	0	AFF3	99991734	1.000000	0.71417	0.965000	0.40720	0.954000	0.61252	3.807000	0.55591	2.836000	0.97738	0.655000	0.94253	AGT		0.428	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3		NM_002285	
AIPL1	23746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	6331788	6331788	+	Silent	SNP	C	C	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr17:6331788C>T	ENST00000381129.3	-	3	395	c.315G>A	c.(313-315)agG>agA	p.R105R	AIPL1_ENST00000574506.1_Silent_p.R93R|AIPL1_ENST00000571740.1_Silent_p.R105R|AIPL1_ENST00000576776.1_Silent_p.R105R|AIPL1_ENST00000576307.1_Silent_p.R45R|AIPL1_ENST00000570466.1_Silent_p.R83R|AIPL1_ENST00000575265.1_Silent_p.R105R|AIPL1_ENST00000250087.5_Intron	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	105	PPIase FKBP-type.				negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)	p.R105R(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		GGGCCATCTGCCTCAGGCTCC	0.632																																																	1	Substitution - coding silent(1)	kidney(1)											84.0	70.0	75.0					17																	6331788		2203	4300	6503	SO:0001819	synonymous_variant	23746			AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"""aryl hydrocarbon receptor-interacting protein-like 1"""	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.315G>A	17.37:g.6331788C>T		Somatic		WXS	Illumina HiSeq	Phase_I	D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Silent	SNP	ENST00000381129.3	37	CCDS11075.1																																																																																				0.632	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3		NM_014336	
ALMS1	7840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	73746997	73746997	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr2:73746997C>A	ENST00000264448.6	+	11	9743	c.9632C>A	c.(9631-9633)aCc>aAc	p.T3211N	ALMS1_ENST00000409009.1_Missense_Mutation_p.T3169N	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3211					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.T3211N(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCAGAAAAGACCCTATTTTCA	0.403																																																	1	Substitution - Missense(1)	kidney(1)											104.0	99.0	101.0					2																	73746997		1824	4063	5887	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.9632C>A	2.37:g.73746997C>A	ENSP00000264448:p.Thr3211Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906531	0.33628	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.08458	3.09;3.09	5.62	4.74	0.60224	.	1.045450	0.07536	N	0.913059	T	0.19087	0.0458	L	0.40543	1.245	0.28735	N	0.902295	D;D;D;D	0.55385	0.971;0.971;0.971;0.971	P;P;P;P	0.58454	0.839;0.839;0.839;0.839	T	0.15378	-1.0439	10	0.72032	D	0.01	.	11.1905	0.48681	0.0:0.9141:0.0:0.0859	.	3211;3211;3169;3211	D6W5H5;Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;.;ALMS1_HUMAN	N	3169;3211	ENSP00000386627:T3169N;ENSP00000264448:T3211N	ENSP00000264448:T3211N	T	+	2	0	ALMS1	73600505	0.942000	0.31987	0.007000	0.13788	0.174000	0.22865	2.617000	0.46385	1.496000	0.48567	0.650000	0.86243	ACC		0.403	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1		NM_015120	
ANK3	288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	61868693	61868693	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr10:61868693C>G	ENST00000280772.2	-	27	3259	c.3068G>C	c.(3067-3069)cGt>cCt	p.R1023P	ANK3_ENST00000503366.1_Missense_Mutation_p.R1024P|ANK3_ENST00000373827.2_Missense_Mutation_p.R1017P|ANK3_ENST00000355288.2_Missense_Mutation_p.R157P	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1023	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R157P(1)|p.R658P(1)|p.R1023P(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTTACCAAACGGCAGGTGAT	0.562																																																	3	Substitution - Missense(3)	kidney(3)											71.0	77.0	75.0					10																	61868693		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3068G>C	10.37:g.61868693C>G	ENSP00000280772:p.Arg1023Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.597136|4.597136	0.87055|0.87055	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348;ENST00000373815;ENST00000513049|ENST00000467420	T;T;T;T;T;T|.	0.51574|.	0.7;0.7;0.7;0.7;0.7;0.7|.	6.04|6.04	6.04|6.04	0.98038|0.98038	ZU5 (3);|.	0.000000|.	0.41938|.	D|.	0.000795|.	D|D	0.83825|0.83825	0.5338|0.5338	M|M	0.84948|0.84948	2.725|2.725	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	0.971;1.0;1.0;1.0;1.0;1.0;1.0|.	P;D;D;D;D;D;D|.	0.97110|.	0.868;1.0;1.0;1.0;0.999;0.996;0.999|.	D|D	0.83676|0.83676	0.0169|0.0169	10|5	0.87932|.	D|.	0|.	.|.	20.5948|20.5948	0.99439|0.99439	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1024;157;556;1017;1023;258;157|.	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2|.	.;.;.;.;ANK3_HUMAN;.;.|.	P|L	1023;1017;157;157;1024;1003;258;658;658;156;556;148;148|48	ENSP00000280772:R1023P;ENSP00000362933:R1017P;ENSP00000347436:R157P;ENSP00000425236:R1024P;ENSP00000362921:R148P;ENSP00000426582:R148P|.	ENSP00000280772:R1023P|.	R|V	-|-	2|1	0|0	ANK3|ANK3	61538699|61538699	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	CGT|GTT		0.562	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987	
ANXA3	306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	79518556	79518556	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr4:79518556C>A	ENST00000264908.6	+	10	1097	c.718C>A	c.(718-720)Ctg>Atg	p.L240M	ANXA3_ENST00000512884.1_Missense_Mutation_p.L201M|ANXA3_ENST00000503570.2_Missense_Mutation_p.L201M	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	240					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)	p.L240M(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGAAGACTTACTGTTGGCCAT	0.418																																					GBM(2;126 157 27790 28920 42492)												1	Substitution - Missense(1)	kidney(1)											126.0	117.0	120.0					4																	79518556		2203	4300	6503	SO:0001583	missense	306			M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"""Annexins"""	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.718C>A	4.37:g.79518556C>A	ENSP00000264908:p.Leu240Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9W6|Q6LET2	Missense_Mutation	SNP	ENST00000264908.6	37	CCDS3584.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740100	0.30865	.	.	ENSG00000138772	ENST00000264908;ENST00000512884;ENST00000503570	T;T;T	0.27720	1.65;1.65;1.65	5.08	3.35	0.38373	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	M	0.72353	2.195	0.53688	D	0.999978	D	0.89917	1.0	D	0.97110	1.0	T	0.43750	-0.9372	10	0.16420	T	0.52	.	10.5483	0.45072	0.0:0.8402:0.0:0.1598	.	240	P12429	ANXA3_HUMAN	M	240;201;201	ENSP00000264908:L240M;ENSP00000423068:L201M;ENSP00000421015:L201M	ENSP00000264908:L240M	L	+	1	2	ANXA3	79737580	0.984000	0.35163	0.993000	0.49108	0.755000	0.42902	1.582000	0.36568	0.845000	0.35118	0.460000	0.39030	CTG		0.418	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3		NM_005139	
ARHGEF10L	55160	broad.mit.edu;hgsc.bcm.edu	37	1	17990994	17990994	+	Silent	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:17990994C>A	ENST00000361221.3	+	26	3072	c.2913C>A	c.(2911-2913)ccC>ccA	p.P971P	ARHGEF10L_ENST00000167825.4_Silent_p.P674P|ARHGEF10L_ENST00000375415.1_Silent_p.P932P|ARHGEF10L_ENST00000452522.1_Silent_p.P932P|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Silent_p.P966P|ARHGEF10L_ENST00000375408.3_Silent_p.P744P	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	971						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P971P(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTGTGGGGCCCGGGCCTGTCC	0.692																																																	2	Substitution - coding silent(2)	kidney(2)											40.0	42.0	41.0					1																	17990994		2202	4299	6501	SO:0001819	synonymous_variant	55160			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2913C>A	1.37:g.17990994C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	37	CCDS182.1																																																																																				0.692	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1		NM_018125	
ATP8B1	5205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	55361849	55361849	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr18:55361849T>C	ENST00000283684.4	-	10	993	c.994A>G	c.(994-996)Aaa>Gaa	p.K332E	ATP8B1_ENST00000536015.1_Missense_Mutation_p.K332E|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	332					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.K332E(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TAATCAATTTTAGTTCTTTTA	0.308																																																	1	Substitution - Missense(1)	kidney(1)											145.0	144.0	144.0					18																	55361849		2201	4299	6500	SO:0001583	missense	5205			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.994A>G	18.37:g.55361849T>C	ENSP00000283684:p.Lys332Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.719897	0.68844	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.88277	-2.36;-2.36	5.09	5.09	0.68999	ATPase, P-type, ATPase-associated domain (1);	0.098347	0.64402	D	0.000001	D	0.89674	0.6783	M	0.64170	1.965	0.39590	D	0.969567	P	0.36683	0.565	B	0.43916	0.436	D	0.89937	0.4070	10	0.44086	T	0.13	.	14.5442	0.68017	0.0:0.0:0.0:1.0	.	332	O43520	AT8B1_HUMAN	E	332	ENSP00000283684:K332E;ENSP00000445359:K332E	ENSP00000283684:K332E	K	-	1	0	ATP8B1	53512847	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.082000	0.71318	1.922000	0.55676	0.533000	0.62120	AAA		0.308	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1		NM_005603	
B4GALNT1	2583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	58020623	58020623	+	Silent	SNP	G	G	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr12:58020623G>A	ENST00000341156.4	-	11	2090	c.1506C>T	c.(1504-1506)gcC>gcT	p.A502A	B4GALNT1_ENST00000418555.2_Silent_p.A447A	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	502					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.A502A(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AACGGTACCGGGCGTAAGTCT	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											154.0	120.0	132.0					12																	58020623		2203	4300	6503	SO:0001819	synonymous_variant	2583			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.1506C>T	12.37:g.58020623G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DE26|Q8N636	Silent	SNP	ENST00000341156.4	37	CCDS8950.1																																																																																				0.587	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1		NM_001478	
BCAR3	8412	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	94057948	94057948	+	Silent	SNP	G	G	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:94057948G>A	ENST00000370244.1	-	6	648	c.360C>T	c.(358-360)ttC>ttT	p.F120F	RP5-1033H22.2_ENST00000446684.1_RNA|RP5-1033H22.2_ENST00000412628.1_RNA|RP5-1033H22.2_ENST00000417401.1_RNA|RP5-1033H22.2_ENST00000431770.1_RNA|BCAR3_ENST00000260502.6_Silent_p.F120F|BCAR3_ENST00000370247.3_Silent_p.F29F|BCAR3_ENST00000370243.1_Silent_p.F120F|RP5-1033H22.2_ENST00000427243.1_RNA	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	120					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)	p.F120F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TCTCCTTGGAGAACTGCAACA	0.592																																																	1	Substitution - coding silent(1)	kidney(1)											73.0	71.0	72.0					1																	94057948		2203	4300	6503	SO:0001819	synonymous_variant	8412			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.360C>T	1.37:g.94057948G>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	ENST00000370244.1	37	CCDS745.1																																																																																				0.592	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			
MYRF	745	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61545943	61545943	+	Silent	SNP	C	C	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr11:61545943C>T	ENST00000278836.5	+	14	2091	c.1995C>T	c.(1993-1995)aaC>aaT	p.N665N	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.N656N|MYRF_ENST00000389602.4_Silent_p.N56N|MYRF_ENST00000327797.1_Silent_p.N290N	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	665	Peptidase S74.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N656N(1)									CCATAGAGAACTTCCTGGTGG	0.562																																																	1	Substitution - coding silent(1)	kidney(1)											112.0	97.0	102.0					11																	61545943		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1995C>T	11.37:g.61545943C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O43582|Q9P1Q6	Silent	SNP	ENST00000278836.5	37	CCDS44622.1																																																																																				0.562	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2		NM_013279	
BCO2	83875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	112064374	112064374	+	Silent	SNP	T	T	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr11:112064374T>C	ENST00000357685.5	+	3	606	c.471T>C	c.(469-471)gtT>gtC	p.V157V	BCO2_ENST00000526088.1_Silent_p.V123V|BCO2_ENST00000531169.1_Silent_p.V123V|BCO2_ENST00000361053.4_Silent_p.V157V|BCO2_ENST00000438022.1_Silent_p.V123V|AP002884.3_ENST00000532612.1_Silent_p.V128V|BCO2_ENST00000393032.2_Silent_p.V123V|BCO2_ENST00000532593.1_Silent_p.V52V			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	157					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.V157V(1)		NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GCAAGAATGTTTTTGAACGTT	0.388																																					GBM(177;1916 2099 21049 29541 39946)												1	Substitution - coding silent(1)	kidney(1)											102.0	93.0	96.0					11																	112064374		2201	4297	6498	SO:0001819	synonymous_variant	83875			AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"""beta-carotene 9',10' oxygenase"", ""carotenoid-9',10'-cleaving dioxygenase"""	611740	"""beta-carotene dioxygenase 2"""	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.471T>C	11.37:g.112064374T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Silent	SNP	ENST00000357685.5	37	CCDS8358.2	.	.	.	.	.	.	.	.	.	.	T	15.25	2.777113	0.49786	.	.	ENSG00000197580	ENST00000530677	.	.	.	5.38	3.05	0.35203	.	.	.	.	.	T	0.46014	0.1371	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30179	-0.9987	4	.	.	.	-0.0025	2.9605	0.05890	0.1816:0.3039:0.0:0.5145	.	.	.	.	L	60	.	.	F	+	1	0	BCO2	111569584	1.000000	0.71417	0.973000	0.42090	0.986000	0.74619	1.333000	0.33816	0.355000	0.24131	0.533000	0.62120	TTT		0.388	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3		NM_001037290	
LACC1	144811	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	44462991	44462991	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr13:44462991C>A	ENST00000441843.1	+	5	1491	c.1006C>A	c.(1006-1008)Cct>Act	p.P336T	LACC1_ENST00000325686.6_Missense_Mutation_p.P336T	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	336								p.P336T(1)									TGTACTTGGACCTTCAGTAGG	0.418																																																	1	Substitution - Missense(1)	kidney(1)											333.0	280.0	298.0					13																	44462991		2203	4300	6503	SO:0001583	missense	0			AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"""chromosome 13 open reading frame 31"""	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.1006C>A	13.37:g.44462991C>A	ENSP00000391747:p.Pro336Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A2A3Z6|Q8N8X5	Missense_Mutation	SNP	ENST00000441843.1	37	CCDS9391.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611328	0.87258	.	.	ENSG00000179630	ENST00000441843;ENST00000325686	T;T	0.74737	-0.87;-0.87	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.90256	0.6953	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92164	0.5738	10	0.87932	D	0	-1.6865	18.9573	0.92664	0.0:1.0:0.0:0.0	.	336	Q8IV20	LACC1_HUMAN	T	336	ENSP00000391747:P336T;ENSP00000317619:P336T	ENSP00000317619:P336T	P	+	1	0	LACC1	43360991	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	6.970000	0.76099	2.718000	0.92993	0.650000	0.86243	CCT		0.418	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044726.3		NM_153218	
WDPCP	51057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	63631341	63631341	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr2:63631341A>T	ENST00000272321.7	-	10	1804	c.1277T>A	c.(1276-1278)cTg>cAg	p.L426Q	WDPCP_ENST00000409120.1_Missense_Mutation_p.L234Q|WDPCP_ENST00000409199.1_Missense_Mutation_p.L234Q|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Missense_Mutation_p.L426Q|WDPCP_ENST00000398544.3_Missense_Mutation_p.L267Q	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	426					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.L426Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						ACTGAATTGCAGAGTCTCCCT	0.438																																																	1	Substitution - Missense(1)	kidney(1)											93.0	91.0	92.0					2																	63631341		1932	4131	6063	SO:0001583	missense	0				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1277T>A	2.37:g.63631341A>T	ENSP00000272321:p.Leu426Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229543	0.79688	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	5.52	5.52	0.82312	.	0.087961	0.47852	D	0.000216	T	0.76856	0.4046	M	0.78637	2.42	0.50467	D	0.999877	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.996;0.939;0.997;0.99	T	0.80216	-0.1474	10	0.87932	D	0	-4.5516	15.9357	0.79704	1.0:0.0:0.0:0.0	.	234;426;426;267	E9PFG9;O95876-2;O95876;O95876-3	.;.;FRITZ_HUMAN;.	Q	426;234;234;267;426	ENSP00000272321:L426Q;ENSP00000386592:L234Q;ENSP00000386769:L234Q;ENSP00000381552:L267Q;ENSP00000387222:L426Q	ENSP00000272321:L426Q	L	-	2	0	WDPCP	63484845	0.983000	0.35010	0.999000	0.59377	0.962000	0.63368	8.007000	0.88571	2.218000	0.71995	0.482000	0.46254	CTG		0.438	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1		NM_015910	
PXDC1	221749	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	3723939	3723939	+	Silent	SNP	G	G	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr6:3723939G>A	ENST00000380283.4	-	5	1104	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1	204							phosphatidylinositol binding (GO:0035091)	p.L204L(1)									CCGTCCTCCAGCTCTGAGGGA	0.537																																																	1	Substitution - coding silent(1)	kidney(1)											128.0	114.0	119.0					6																	3723939		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 145"""	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.610C>T	6.37:g.3723939G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K0N3|Q6PGP0|Q86XB7	Silent	SNP	ENST00000380283.4	37	CCDS4486.1																																																																																				0.537	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039688.1		NM_183373	
C9orf3	84909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	97823038	97823038	+	Silent	SNP	C	C	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr9:97823038C>T	ENST00000375315.2	+	13	2178	c.2178C>T	c.(2176-2178)ccC>ccT	p.P726P	C9orf3_ENST00000425634.2_Silent_p.P88P|C9orf3_ENST00000297979.5_Silent_p.P627P|C9orf3_ENST00000433691.2_Silent_p.P67P	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	726					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P726P(1)|p.P627P(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CTCTGAGCCCCCGAACTCTGC	0.512																																																	2	Substitution - coding silent(2)	kidney(2)											98.0	91.0	93.0					9																	97823038		2203	4300	6503	SO:0001819	synonymous_variant	84909			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.2178C>T	9.37:g.97823038C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Silent	SNP	ENST00000375315.2	37	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.308451	0.01342	.	.	ENSG00000148120	ENST00000445181	T	0.41400	1.0	5.34	-9.23	0.00672	.	0.570200	0.20526	N	0.090605	T	0.17959	0.0431	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.11012	-1.0605	7	0.24483	T	0.36	-1.5387	1.7528	0.02976	0.1538:0.1944:0.2606:0.3912	.	.	.	.	S	91	ENSP00000413927:P91S	ENSP00000413927:P91S	P	+	1	0	C9orf3	96862859	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.830000	0.01699	-2.106000	0.00841	-0.897000	0.02905	CCG		0.512	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_032823	
CCHCR1	54535	hgsc.bcm.edu	37	6	31113524	31113525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr6:31113524_31113525insG	ENST00000376266.5	-	11	1496_1497	c.1374_1375insC	c.(1372-1377)cccagcfs	p.S459fs	CCHCR1_ENST00000396263.2_Intron|CCHCR1_ENST00000451521.2_Frame_Shift_Ins_p.S512fs|CCHCR1_ENST00000396268.3_Frame_Shift_Ins_p.S548fs	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	459					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TTGTTGAGGCTGGGAAGCTGGG	0.629																																																	0																																										SO:0001589	frameshift_variant	54535			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1375dupC	6.37:g.31113527_31113527dupG	ENSP00000365442:p.Ser459fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Frame_Shift_Ins	INS	ENST00000376266.5	37	CCDS4695.1																																																																																				0.629	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5		NM_019052	
CDK5RAP2	55755	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	123222946	123222946	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr9:123222946C>T	ENST00000349780.4	-	19	2286		c.e19-1		CDK5RAP2_ENST00000359309.3_Splice_Site|CDK5RAP2_ENST00000360822.3_Intron|CDK5RAP2_ENST00000360190.4_Splice_Site	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2						brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.?(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TAGCCAGAAGCTACATGGAGC	0.408																																																	1	Unknown(1)	kidney(1)											155.0	126.0	136.0					9																	123222946		2203	4300	6503	SO:0001630	splice_region_variant	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2107-1G>A	9.37:g.123222946C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Splice_Site	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057643	0.76074	.	.	ENSG00000136861	ENST00000359309;ENST00000349780;ENST00000360190	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.996	0.86368	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDK5RAP2	122262767	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.263000	0.58853	2.808000	0.96608	0.650000	0.86243	.		0.408	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1		NM_018249	Intron
CLTC	1213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	57758814	57758814	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr17:57758814T>C	ENST00000269122.3	+	20	3498	c.3224T>C	c.(3223-3225)tTt>tCt	p.F1075S	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.F1075S	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1075	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.F1075S(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTCCGGAAATTTGATGTCAAT	0.408			T	"""ALK, TFE3"""	"""ALCL, renal """																																			Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	1	Substitution - Missense(1)	kidney(1)											85.0	83.0	84.0					17																	57758814		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.3224T>C	17.37:g.57758814T>C	ENSP00000269122:p.Phe1075Ser	Somatic		WXS	Illumina HiSeq	Phase_I	D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.712623	0.89112	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.19938	2.11;2.11	5.55	5.55	0.83447	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	M	0.89658	3.05	0.80722	D	1	D;P	0.71674	0.998;0.52	D;B	0.87578	0.998;0.345	T	0.64668	-0.6353	10	0.66056	D	0.02	.	15.9985	0.80270	0.0:0.0:0.0:1.0	.	1075;1075	Q00610;Q00610-2	CLH1_HUMAN;.	S	1075	ENSP00000269122:F1075S;ENSP00000376763:F1075S	ENSP00000269122:F1075S	F	+	2	0	CLTC	55113596	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.997000	0.88414	2.233000	0.73108	0.455000	0.32223	TTT		0.408	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1		NM_004859	
COL15A1	1306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	101829277	101829277	+	Silent	SNP	T	T	G			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr9:101829277T>G	ENST00000375001.3	+	40	4188	c.3765T>G	c.(3763-3765)tcT>tcG	p.S1255S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1255	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.S1255S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CATTCTTATCTTCCCATTTGC	0.463																																																	1	Substitution - coding silent(1)	kidney(1)											159.0	135.0	144.0					9																	101829277		2203	4300	6503	SO:0001819	synonymous_variant	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3765T>G	9.37:g.101829277T>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	CCDS35081.1																																																																																				0.463	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3		NM_001855	
COPS2	9318	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	49429387	49429387	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr15:49429387T>C	ENST00000388901.5	-	6	573	c.500A>G	c.(499-501)aAg>aGg	p.K167R	COPS2_ENST00000299259.6_Missense_Mutation_p.K174R|COPS2_ENST00000542928.1_Missense_Mutation_p.K103R|Y_RNA_ENST00000363250.1_RNA	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	167					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.K167R(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TTTTTGAAGCTTTCCATATTC	0.303																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)												1	Substitution - Missense(1)	kidney(1)											44.0	48.0	46.0					15																	49429387		2196	4295	6491	SO:0001583	missense	9318			AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.500A>G	15.37:g.49429387T>C	ENSP00000373553:p.Lys167Arg	Somatic		WXS	Illumina HiSeq	Phase_I	O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000388901.5	37	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	T	10.11	1.261385	0.23051	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	T;T;T	0.78003	-1.14;-0.91;-1.14	5.53	5.53	0.82687	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.58133	0.2101	N	0.10782	0.045	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.57081	-0.7872	10	0.05620	T	0.96	.	15.9509	0.79835	0.0:0.0:0.0:1.0	.	103;175;167	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	R	174;167;103	ENSP00000299259:K174R;ENSP00000373553:K167R;ENSP00000443664:K103R	ENSP00000299259:K174R	K	-	2	0	COPS2	47216679	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.225000	0.72522	0.533000	0.62120	AAG		0.303	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1		NM_004236	
CSK	1445	broad.mit.edu;hgsc.bcm.edu	37	15	75091783	75091783	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr15:75091783T>A	ENST00000220003.9	+	5	1142	c.413T>A	c.(412-414)cTc>cAc	p.L138H	CSK_ENST00000567571.1_Missense_Mutation_p.L138H|CSK_ENST00000309470.9_Missense_Mutation_p.L138H|CSK_ENST00000439220.2_Missense_Mutation_p.L138H	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	138	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)	p.L138H(1)		central_nervous_system(1)|lung(2)	3						GCCAGCAAGCTCAGCATCGAC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											74.0	55.0	61.0					15																	75091783		2197	4296	6493	SO:0001583	missense	1445				CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"""SH2 domain containing"""	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.413T>A	15.37:g.75091783T>A	ENSP00000220003:p.Leu138His	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.784693	0.90282	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	D;D;D	0.89415	-2.51;-2.51;-2.51	4.63	4.63	0.57726	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.94470	0.8220	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95265	0.8372	10	0.87932	D	0	-19.5805	13.8553	0.63522	0.0:0.0:0.0:1.0	.	138	P41240	CSK_HUMAN	H	138;138;87;138	ENSP00000220003:L138H;ENSP00000414764:L138H;ENSP00000438808:L138H	ENSP00000220003:L138H	L	+	2	0	CSK	72878836	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.944000	0.70219	1.951000	0.56629	0.402000	0.26972	CTC		0.602	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2		NM_004383	
CTAGE5	4253	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	39782629	39782629	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr14:39782629G>A	ENST00000280083.3	+	14	1593	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	CTAGE5_ENST00000557038.1_Missense_Mutation_p.E347K|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.E962K|CTAGE5_ENST00000341749.3_Missense_Mutation_p.E415K|CTAGE5_ENST00000348007.3_Missense_Mutation_p.E427K|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.E398K|CTAGE5_ENST00000553352.1_Missense_Mutation_p.E398K|CTAGE5_ENST00000556148.1_Missense_Mutation_p.E352K|CTAGE5_ENST00000341502.5_Missense_Mutation_p.E427K|CTAGE5_ENST00000396165.4_Missense_Mutation_p.E398K|CTAGE5_ENST00000396158.2_Missense_Mutation_p.E432K			O15320	CTGE5_HUMAN	CTAGE family, member 5	427					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)	p.E427K(1)	CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TGCCACTGAAGAGCTGGAGAC	0.299																																																	1	Substitution - Missense(1)	kidney(1)											52.0	62.0	59.0					14																	39782629		2203	4287	6490	SO:0001583	missense	4253			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1279G>A	14.37:g.39782629G>A	ENSP00000280083:p.Glu427Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695497	0.88830	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.34	5.34	0.76211	.	.	.	.	.	T	0.54806	0.1881	M	0.70275	2.135	0.52099	D	0.99994	B;B;B;B;B;B	0.32620	0.378;0.155;0.149;0.155;0.089;0.093	B;B;B;B;B;B	0.33799	0.169;0.068;0.121;0.068;0.17;0.068	T	0.53892	-0.8374	8	.	.	.	.	17.1884	0.86872	0.0:0.0:1.0:0.0	.	389;432;427;427;398;415	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	K	962;415;347;389;398;427;432;427;352;427;398	ENSP00000452252:E962K;ENSP00000343897:E415K;ENSP00000450869:E347K;ENSP00000379468:E398K;ENSP00000339286:E427K;ENSP00000379462:E432K;ENSP00000280083:E427K;ENSP00000452562:E352K;ENSP00000343912:E427K;ENSP00000450449:E398K	.	E	+	1	0	CTAGE5;RP11-407N17.3	38852380	1.000000	0.71417	0.993000	0.49108	0.988000	0.76386	6.841000	0.75374	2.664000	0.90586	0.650000	0.86243	GAG		0.299	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2		NM_005930	
CYP26B1	56603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	72371136	72371136	+	Silent	SNP	G	G	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr2:72371136G>T	ENST00000001146.2	-	2	614	c.411C>A	c.(409-411)atC>atA	p.I137I	CYP26B1_ENST00000412253.1_5'Flank|CYP26B1_ENST00000546307.1_Intron	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	137					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.I137I(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TGTTGCGGTGGATGTCGCCAA	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											58.0	58.0	58.0					2																	72371136		2203	4300	6503	SO:0001819	synonymous_variant	56603				CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.411C>A	2.37:g.72371136G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Silent	SNP	ENST00000001146.2	37	CCDS1919.1																																																																																				0.627	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1		NM_019885	
ECEL1	9427	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	233349705	233349705	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr2:233349705G>C	ENST00000304546.1	-	4	1162	c.952C>G	c.(952-954)Cag>Gag	p.Q318E	ECEL1_ENST00000409941.1_Missense_Mutation_p.Q318E	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	318					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)	p.Q318E(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCCAGCTGCTGCTCCACTTGC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											85.0	76.0	79.0					2																	233349705		2203	4300	6503	SO:0001583	missense	9427			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.952C>G	2.37:g.233349705G>C	ENSP00000302051:p.Gln318Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792594	0.31685	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	T;T	0.73363	-0.74;-0.74	5.47	5.47	0.80525	Peptidase M13 (1);	0.117523	0.64402	D	0.000020	T	0.72128	0.3422	L	0.36672	1.1	0.45930	D	0.998768	P;B	0.35226	0.491;0.393	B;B	0.40165	0.125;0.321	T	0.72766	-0.4194	10	0.52906	T	0.07	-2.2529	19.3865	0.94557	0.0:0.0:1.0:0.0	.	318;318	O95672-2;O95672	.;ECEL1_HUMAN	E	318	ENSP00000302051:Q318E;ENSP00000386333:Q318E	ENSP00000302051:Q318E	Q	-	1	0	ECEL1	233057949	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	3.805000	0.55575	2.590000	0.87494	0.456000	0.33151	CAG		0.617	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2		NM_004826	
EHMT1	79813	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	140695437	140695437	+	Splice_Site	SNP	G	G	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr9:140695437G>A	ENST00000460843.1	+	18	2739		c.e18+1			NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1						chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.?(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCGAGACAACGTAAGTTCGTC	0.597																																																	2	Unknown(2)	kidney(2)											140.0	106.0	117.0					9																	140695437		2203	4300	6503	SO:0001630	splice_region_variant	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2712+1G>A	9.37:g.140695437G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Splice_Site	SNP	ENST00000460843.1	37	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447284	0.84101	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3646	0.94456	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EHMT1	139815258	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.317000	0.96327	2.582000	0.87167	0.561000	0.74099	.		0.597	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2		NM_024757	Intron
EML4	27436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	42472705	42472705	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr2:42472705C>A	ENST00000318522.5	+	2	348	c.86C>A	c.(85-87)tCa>tAa	p.S29*	EML4_ENST00000401738.3_Nonsense_Mutation_p.S29*|EML4_ENST00000402711.2_Nonsense_Mutation_p.S29*|EML4_ENST00000482660.1_3'UTR	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	29					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.S29*(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCTCTTGAGTCACGAGTTCAG	0.388			T	ALK	NSCLC																																			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	1	Substitution - Nonsense(1)	kidney(1)											107.0	96.0	100.0					2																	42472705		2203	4300	6503	SO:0001587	stop_gained	27436			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.86C>A	2.37:g.42472705C>A	ENSP00000320663:p.Ser29*	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Nonsense_Mutation	SNP	ENST00000318522.5	37	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709406	0.89018	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	.	.	.	5.77	3.23	0.37069	.	0.142200	0.48286	D	0.000198	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-3.0046	9.0161	0.36170	0.0:0.1677:0.0:0.8323	.	.	.	.	X	29	.	ENSP00000320663:S29X	S	+	2	0	EML4	42326209	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.313000	0.59160	0.459000	0.27016	-0.225000	0.12378	TCA		0.388	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3		NM_019063	
EPHB4	2050	broad.mit.edu;hgsc.bcm.edu	37	7	100417900	100417900	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr7:100417900A>C	ENST00000358173.3	-	5	1295	c.827T>G	c.(826-828)tTc>tGc	p.F276C	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.F276C|RN7SL750P_ENST00000582814.1_RNA	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	276	Cys-rich.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F276C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGGGGCTTGAAGGTGCCCTG	0.572																																					GBM(200;2113 3072 25865 52728)												1	Substitution - Missense(1)	kidney(1)											106.0	120.0	115.0					7																	100417900		2203	4300	6503	SO:0001583	missense	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.827T>G	7.37:g.100417900A>C	ENSP00000350896:p.Phe276Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.208075	0.58343	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.25085	1.82;1.82	5.35	5.35	0.76521	Tyrosine-protein kinase ephrin type A/B receptor-like (1);	0.000000	0.53938	D	0.000047	T	0.54615	0.1869	M	0.89785	3.06	0.42298	D	0.992164	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.989;0.989;0.961;0.986	T	0.62996	-0.6735	10	0.72032	D	0.01	.	8.7039	0.34343	0.8303:0.0:0.0:0.1696	.	276;276;276;276	B5A972;B5A970;Q96L35;P54760	.;.;.;EPHB4_HUMAN	C	276	ENSP00000353833:F276C;ENSP00000350896:F276C	ENSP00000350896:F276C	F	-	2	0	EPHB4	100255836	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.093000	0.89531	2.014000	0.59158	0.533000	0.62120	TTC		0.572	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1		NM_004444	
FMN2	56776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	240370231	240370231	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:240370231G>T	ENST00000319653.9	+	5	2349	c.2119G>T	c.(2119-2121)Ggt>Tgt	p.G707C		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	707					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G850C(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGTGGCCAGTGGTCATCAAGG	0.483																																																	1	Substitution - Missense(1)	kidney(1)											72.0	71.0	72.0					1																	240370231		2203	4300	6503	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2119G>T	1.37:g.240370231G>T	ENSP00000318884:p.Gly707Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	8.216	0.801496	0.16397	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T	0.27256	1.68	5.03	-2.3	0.06785	.	0.843084	0.10500	N	0.667345	T	0.19967	0.0480	L	0.57536	1.79	0.09310	N	1	B	0.16166	0.016	B	0.12156	0.007	T	0.34378	-0.9831	10	0.66056	D	0.02	.	2.1548	0.03809	0.2732:0.3253:0.2921:0.1094	.	707	Q9NZ56	FMN2_HUMAN	C	144;707	ENSP00000318884:G707C	ENSP00000318884:G707C	G	+	1	0	FMN2	238436854	0.009000	0.17119	0.002000	0.10522	0.011000	0.07611	0.574000	0.23714	-0.657000	0.05373	0.655000	0.94253	GGT		0.483	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2		XM_371352	
GJB6	10804	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	20797015	20797015	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr13:20797015C>A	ENST00000356192.6	-	5	1225	c.605G>T	c.(604-606)tGc>tTc	p.C202F	GJB6_ENST00000241124.6_Missense_Mutation_p.C202F|GJB6_ENST00000400065.3_Missense_Mutation_p.C202F|GJB6_ENST00000400066.3_Missense_Mutation_p.C202F	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	202					apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)		p.C202F(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		AAGCAGCATGCAAATCACAGA	0.458																																																	1	Substitution - Missense(1)	kidney(1)											112.0	96.0	101.0					13																	20797015		2203	4300	6503	SO:0001583	missense	10804			AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"""Ion channels / Gap junction proteins (connexins)"""	4288	protein-coding gene	gene with protein product	"""connexin 30"""	604418	"""ectodermal dysplasia 2, hidrotic (Clouston syndrome)"", ""gap junction protein, beta 6 (connexin 30)"", ""gap junction protein, beta 6"""	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.605G>T	13.37:g.20797015C>A	ENSP00000348521:p.Cys202Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Missense_Mutation	SNP	ENST00000356192.6	37	CCDS9291.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857549	0.51376	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03	5.61	5.61	0.85477	Gap junction protein, cysteine-rich domain (1);	0.000000	0.64402	D	0.000001	D	0.98767	0.9585	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99461	1.0943	10	0.87932	D	0	.	19.6248	0.95674	0.0:1.0:0.0:0.0	.	202	O95452	CXB6_HUMAN	F	202	ENSP00000241124:C202F;ENSP00000382938:C202F;ENSP00000382939:C202F;ENSP00000348521:C202F	ENSP00000241124:C202F	C	-	2	0	GJB6	19695015	1.000000	0.71417	0.992000	0.48379	0.012000	0.07955	4.784000	0.62411	2.623000	0.88846	0.655000	0.94253	TGC		0.458	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1			
GRIA1	2890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	152873521	152873521	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr5:152873521A>G	ENST00000285900.5	+	2	459	c.116A>G	c.(115-117)cAt>cGt	p.H39R	GRIA1_ENST00000521843.2_5'UTR|GRIA1_ENST00000448073.4_Missense_Mutation_p.H49R|GRIA1_ENST00000340592.5_Missense_Mutation_p.H39R|GRIA1_ENST00000518783.1_Missense_Mutation_p.H49R|GRIA1_ENST00000518142.1_Missense_Mutation_p.H39R|GRIA1_ENST00000518862.1_3'UTR	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	39					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.H39R(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TCACAGGAACATGCTGCTTTT	0.453																																																	2	Substitution - Missense(2)	kidney(2)											123.0	119.0	120.0					5																	152873521		2203	4300	6503	SO:0001583	missense	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.116A>G	5.37:g.152873521A>G	ENSP00000285900:p.His39Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.867810	0.51588	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000518783;ENST00000448073	D;T;D;D;D	0.82167	-1.58;2.57;-1.58;-1.58;-1.58	5.48	5.48	0.80851	Extracellular ligand-binding receptor (1);	0.056524	0.64402	D	0.000001	T	0.81564	0.4849	N	0.14661	0.345	0.80722	D	1	D;D;P;D;D;P	0.56968	0.978;0.978;0.932;0.978;0.973;0.9	P;P;P;P;P;P	0.58520	0.663;0.663;0.84;0.663;0.533;0.521	D	0.84711	0.0734	10	0.62326	D	0.03	.	14.7347	0.69406	1.0:0.0:0.0:0.0	.	49;49;39;49;39;39	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	R	39;39;39;39;49;49	ENSP00000285900:H39R;ENSP00000427920:H39R;ENSP00000339343:H39R;ENSP00000428994:H49R;ENSP00000415569:H49R	ENSP00000285900:H39R	H	+	2	0	GRIA1	152853714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.201000	0.77847	2.060000	0.61445	0.533000	0.62120	CAT		0.453	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			
GRM5	2915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	88300984	88300984	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr11:88300984C>A	ENST00000305447.4	-	7	2016	c.1867G>T	c.(1867-1869)Gct>Tct	p.A623S	GRM5_ENST00000455756.2_Missense_Mutation_p.A623S|GRM5_ENST00000305432.5_Missense_Mutation_p.A623S|GRM5_ENST00000393297.1_Missense_Mutation_p.A623S|GRM5_ENST00000418177.2_Missense_Mutation_p.A623S	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	623					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.A623S(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CAGATGCCAGCAAGGATAATG	0.493																																																	2	Substitution - Missense(2)	kidney(2)											100.0	89.0	93.0					11																	88300984		2201	4299	6500	SO:0001583	missense	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1867G>T	11.37:g.88300984C>A	ENSP00000306138:p.Ala623Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658600	0.88154	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34	5.71	5.71	0.89125	GPCR, family 3, C-terminal (2);	0.094650	0.64402	D	0.000001	D	0.84866	0.5567	N	0.11154	0.105	0.80722	D	1	D;D	0.54964	0.961;0.969	P;P	0.56163	0.616;0.793	D	0.83958	0.0320	9	.	.	.	.	19.8631	0.96790	0.0:1.0:0.0:0.0	.	623;623	P41594-2;P41594	.;GRM5_HUMAN	S	623	ENSP00000402912:A623S;ENSP00000405690:A623S;ENSP00000305905:A623S;ENSP00000306138:A623S;ENSP00000376975:A623S	.	A	-	1	0	GRM5	87940632	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	GCT		0.493	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1		NM_000842	
HIF1A	3091	broad.mit.edu;hgsc.bcm.edu	37	14	62211422	62211422	+	Splice_Site	SNP	G	G	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr14:62211422G>C	ENST00000337138.4	+	13	2358		c.e13-1		HIF1A_ENST00000394997.1_Splice_Site|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000557538.1_Splice_Site|HIF1A_ENST00000323441.6_Splice_Site|HIF1A_ENST00000539097.1_Splice_Site|HIF1A-AS2_ENST00000554254.1_lincRNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)						angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.?(1)		breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TTTCTTTTCAGAACTACAGTT	0.303																																																	1	Unknown(1)	kidney(1)											35.0	37.0	36.0					14																	62211422		2203	4300	6503	SO:0001630	splice_region_variant	3091			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.2094-1G>C	14.37:g.62211422G>C		Somatic		WXS	Illumina HiSeq	Phase_I	C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Splice_Site	SNP	ENST00000337138.4	37	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756488	0.69648	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7273	0.96170	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HIF1A	61281175	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.704000	0.68347	2.718000	0.92993	0.655000	0.94253	.		0.303	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2		NM_001530	Intron
HLA-DRB1	3123	hgsc.bcm.edu	37	6	32549345	32549346	+	Frame_Shift_Ins	INS	-	-	CA	rs35837054		TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr6:32549345_32549346insCA	ENST00000360004.5	-	3	745_746	c.640_641insTG	c.(640-642)acafs	p.T214fs		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	214	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CCATTCCACTGTGAGAGGGCTT	0.53										Multiple Myeloma(14;0.17)																																							0										189,3687		5,179,1754						2.0	0.5		dbSNP_126	101	829,6363		27,775,2794	no	frameshift	HLA-DRB1	NM_002124.3		32,954,4548	A1A1,A1R,RR		11.5267,4.8762,9.1977				1018,10050				SO:0001589	frameshift_variant	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.640_641insTG	6.37:g.32549345_32549346insCA	ENSP00000353099:p.Thr214fs	Somatic		WXS	Illumina HiSeq	Phase_I	P01914|Q9MYF5	Frame_Shift_Ins	INS	ENST00000360004.5	37	CCDS47409.1																																																																																				0.530	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3		NM_002124	
HUS1	3364	hgsc.bcm.edu;ucsc.edu	37	7	48008881	48008881	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr7:48008881delA	ENST00000258774.5	-	6	598	c.575delT	c.(574-576)ttgfs	p.L192fs	HUS1_ENST00000432325.1_Frame_Shift_Del_p.L171fs	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	192					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				TTCTATTTTCAAATTCAATTC	0.318								Direct reversal of damage;Other conserved DNA damage response genes			OREG0018063	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(103;466 1517 21788 34610 43890)												0													91.0	95.0	93.0					7																	48008881		2198	4300	6498	SO:0001589	frameshift_variant	3364			Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"""hus1+-like protein"""	603760	"""HUS1 (S. pombe) checkpoint homolog"""			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.575delT	7.37:g.48008881delA	ENSP00000258774:p.Leu192fs	Somatic	951	WXS	Illumina HiSeq	Phase_I	B4DFI9	Frame_Shift_Del	DEL	ENST00000258774.5	37	CCDS34635.1																																																																																				0.318	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1		NM_004507	
ITSN2	50618	hgsc.bcm.edu;ucsc.edu	37	2	24435589	24435589	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr2:24435589delC	ENST00000355123.4	-	33	4462	c.4019delG	c.(4018-4020)ggafs	p.G1340fs	AC009228.1_ENST00000413254.1_RNA|AC009228.1_ENST00000430105.1_RNA|ITSN2_ENST00000361999.3_Frame_Shift_Del_p.G1313fs|AC009228.1_ENST00000413989.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1340	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGGGCATTCCTTTACACCG	0.567																																																	0													121.0	119.0	119.0					2																	24435589		2203	4300	6503	SO:0001589	frameshift_variant	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4019delG	2.37:g.24435589delC	ENSP00000347244:p.Gly1340fs	Somatic		WXS	Illumina HiSeq	Phase_I	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Frame_Shift_Del	DEL	ENST00000355123.4	37	CCDS1710.2																																																																																				0.567	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2		NM_006277	
JAG1	182	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	10627597	10627597	+	Nonsense_Mutation	SNP	G	G	T	rs533849006		TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr20:10627597G>T	ENST00000254958.5	-	14	2390	c.1875C>A	c.(1873-1875)taC>taA	p.Y625*	JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Nonsense_Mutation_p.Y466*	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	625	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)	p.Y625*(2)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TTTCATGGCAGTATGTTCCCG	0.572									Alagille Syndrome																																								2	Substitution - Nonsense(2)	kidney(2)	GRCh37	CM993753	JAG1	M							174.0	158.0	163.0					20																	10627597		2203	4300	6503	SO:0001587	stop_gained	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1875C>A	20.37:g.10627597G>T	ENSP00000254958:p.Tyr625*	Somatic		WXS	Illumina HiSeq	Phase_I	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Nonsense_Mutation	SNP	ENST00000254958.5	37	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	G	43	10.022343	0.99319	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	.	.	.	X	625;466	.	ENSP00000254958:Y625X	Y	-	3	2	JAG1	10575597	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.738000	0.74822	2.884000	0.98904	0.655000	0.94253	TAC		0.572	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_000214	
JAK2	3717	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	5022145	5022145	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr9:5022145A>C	ENST00000381652.3	+	3	652	c.158A>C	c.(157-159)gAt>gCt	p.D53A	JAK2_ENST00000539801.1_Missense_Mutation_p.D53A	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	53	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.D53A(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCTGAGGCAGATTATCTGACC	0.368		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	1	Substitution - Missense(1)	kidney(1)											143.0	140.0	141.0					9																	5022145		2203	4300	6503	SO:0001583	missense	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.158A>C	9.37:g.5022145A>C	ENSP00000371067:p.Asp53Ala	Somatic		WXS	Illumina HiSeq	Phase_I	O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.650118	0.29336	.	.	ENSG00000096968	ENST00000539801;ENST00000381652	T;T	0.62639	0.01;0.01	5.57	5.57	0.84162	Band 4.1 domain (1);FERM domain (1);	0.289778	0.38217	N	0.001767	T	0.49287	0.1548	N	0.25647	0.755	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41822	-0.9487	9	.	.	.	-13.6717	15.7191	0.77694	1.0:0.0:0.0:0.0	.	53	O60674	JAK2_HUMAN	A	53	ENSP00000440387:D53A;ENSP00000371067:D53A	.	D	+	2	0	JAK2	5012145	1.000000	0.71417	0.995000	0.50966	0.328000	0.28507	7.037000	0.76531	2.118000	0.64928	0.377000	0.23210	GAT		0.368	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			
KALRN	8997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	124215189	124215189	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr3:124215189G>A	ENST00000240874.3	+	33	5015	c.4858G>A	c.(4858-4860)Gat>Aat	p.D1620N	KALRN_ENST00000460856.1_Missense_Mutation_p.D1611N|KALRN_ENST00000360013.3_Missense_Mutation_p.D1620N	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1620					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D1620N(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAGCCAGGGGGATGGGAGCAG	0.542																																																	2	Substitution - Missense(2)	kidney(2)											133.0	127.0	129.0					3																	124215189		2203	4300	6503	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4858G>A	3.37:g.124215189G>A	ENSP00000240874:p.Asp1620Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218576	0.95104	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.21734	1.99;1.99;1.99	5.25	5.25	0.73442	.	0.117169	0.56097	D	0.000033	T	0.33265	0.0857	L	0.43152	1.355	0.80722	D	1	P;P;P	0.46784	0.774;0.884;0.855	P;P;P	0.54706	0.579;0.516;0.759	T	0.00411	-1.1756	10	0.21014	T	0.42	.	19.3982	0.94617	0.0:0.0:1.0:0.0	.	1611;1620;1620	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	N	1611;1620;1620	ENSP00000418611:D1611N;ENSP00000240874:D1620N;ENSP00000353109:D1620N	ENSP00000240874:D1620N	D	+	1	0	KALRN	125697879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.601000	0.98297	2.894000	0.99253	0.655000	0.94253	GAT		0.542	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4		NM_003947	
KCNN2	3781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	113698884	113698884	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr5:113698884G>T	ENST00000512097.3	+	2	1430	c.412G>T	c.(412-414)Gcg>Tcg	p.A138S	KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_Missense_Mutation_p.A138S			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	138					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.A138S(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CAGCGACTACGCGCTCATCTT	0.602																																																	2	Substitution - Missense(2)	kidney(2)											36.0	37.0	37.0					5																	113698884		2202	4300	6502	SO:0001583	missense	3781			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.412G>T	5.37:g.113698884G>T	ENSP00000427120:p.Ala138Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088250	0.76756	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98862	-5.19;-5.19	5.44	5.44	0.79542	Potassium channel, calcium-activated, SK, conserved region (1);	0.000000	0.85682	D	0.000000	D	0.98601	0.9532	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98376	1.0556	10	0.40728	T	0.16	.	13.5568	0.61763	0.0767:0.0:0.9233:0.0	.	138	Q9H2S1	KCNN2_HUMAN	S	138	ENSP00000427120:A138S;ENSP00000264773:A138S	ENSP00000264773:A138S	A	+	1	0	KCNN2	113726783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.696000	0.84270	2.536000	0.85505	0.655000	0.94253	GCG		0.602	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2		NM_021614	
LRRIQ3	127255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	74507303	74507303	+	Missense_Mutation	SNP	C	C	T	rs267598713		TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:74507303C>T	ENST00000395089.1	-	6	1311	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.E438K			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	438								p.E438K(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTTACTTTTTCTTTATGGTAT	0.343																																																	1	Substitution - Missense(1)	kidney(1)											196.0	180.0	185.0					1																	74507303		1844	4094	5938	SO:0001583	missense	127255			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1312G>A	1.37:g.74507303C>T	ENSP00000378524:p.Glu438Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	8.947	0.967146	0.18659	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.08193	3.12;3.12	5.77	-0.159	0.13379	.	1.159810	0.06407	N	0.719931	T	0.00936	0.0031	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47235	-0.9133	10	0.10377	T	0.69	.	5.0582	0.14544	0.0:0.3762:0.1603:0.4636	.	438	A6PVS8	LRIQ3_HUMAN	K	438	ENSP00000378524:E438K;ENSP00000346414:E438K	ENSP00000346414:E438K	E	-	1	0	LRRIQ3	74279891	0.017000	0.18338	0.001000	0.08648	0.008000	0.06430	-0.031000	0.12287	0.030000	0.15379	-0.291000	0.09656	GAA		0.343	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1		NM_145258	
KLHL32	114792	broad.mit.edu;hgsc.bcm.edu	37	6	97587192	97587192	+	3'UTR	SNP	A	A	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr6:97587192A>C	ENST00000369261.4	+	0	2260				KLHL32_ENST00000544166.1_3'UTR|KLHL32_ENST00000539200.1_3'UTR|KLHL32_ENST00000536676.1_3'UTR	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32											breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		AGGAAAACATAGCTCTGACTG	0.408																																																	0													82.0	70.0	74.0					6																	97587192		2203	4300	6503	SO:0001624	3_prime_UTR_variant	100302287			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.*34A>C	6.37:g.97587192A>C		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	RNA	SNP	ENST00000369261.4	37	CCDS5038.1																																																																																				0.408	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1		NM_052904	
MRPL30	51263	broad.mit.edu;hgsc.bcm.edu	37	2	99812127	99812127	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr2:99812127T>G	ENST00000338148.3	+	6	643	c.445T>G	c.(445-447)Tgg>Ggg	p.W149G	MRPL30_ENST00000465432.1_3'UTR|C2orf15_ENST00000512183.2_Missense_Mutation_p.W149G	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	149						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.W149G(1)		breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						AGTAGTGCAGTGGCATCTGAA	0.458																																																	1	Substitution - Missense(1)	kidney(1)											130.0	123.0	126.0					2																	99812127		2203	4300	6503	SO:0001583	missense	51263			AB051342	CCDS2041.1	2q11.2	2012-09-13			ENSG00000185414	ENSG00000185414		"""Mitochondrial ribosomal proteins / large subunits"""	14036	protein-coding gene	gene with protein product		611838					Standard	NM_145212		Approved	MRP-L28, RPML28	uc002szv.3	Q8TCC3	OTTHUMG00000130642	ENST00000338148.3:c.445T>G	2.37:g.99812127T>G	ENSP00000338057:p.Trp149Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A6NIC6|D3DVI0|D3DVI3|Q0D2Q7|Q6ZTP4|Q96Q69|Q9P0N0	Missense_Mutation	SNP	ENST00000338148.3	37	CCDS2041.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.097184	0.56075	.	.	ENSG00000241962;ENSG00000241962;ENSG00000185414;ENSG00000185414	ENST00000512183;ENST00000308644;ENST00000338148;ENST00000409841	T;T;T	0.42131	0.98;0.98;0.98	4.26	4.26	0.50523	.	0.271212	0.37393	N	0.002108	T	0.34745	0.0908	L	0.57536	1.79	0.27580	N	0.949619	B	0.27068	0.167	B	0.19148	0.024	T	0.30149	-0.9988	10	0.48119	T	0.1	-6.8124	7.3077	0.26457	0.1959:0.0:0.0:0.8041	.	149	Q8TCC3	RM30_HUMAN	G	149;162;149;149	ENSP00000420959:W149G;ENSP00000338057:W149G;ENSP00000386752:W149G	ENSP00000312464:W162G	W	+	1	0	C2orf15;MRPL30	99178559	0.950000	0.32346	0.981000	0.43875	0.955000	0.61496	1.701000	0.37825	1.928000	0.55862	0.477000	0.44152	TGG		0.458	MRPL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253130.2			
MTTP	4547	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	100521758	100521758	+	Silent	SNP	C	C	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr4:100521758C>T	ENST00000265517.5	+	9	1307	c.1104C>T	c.(1102-1104)acC>acT	p.T368T	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Silent_p.T395T|MTTP_ENST00000457717.1_Silent_p.T368T			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	368	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.T368T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CTGCTCAGACCTCAGACTCAT	0.413																																																	1	Substitution - coding silent(1)	kidney(1)											143.0	141.0	142.0					4																	100521758		2203	4300	6503	SO:0001819	synonymous_variant	4547				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1104C>T	4.37:g.100521758C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	CCDS3651.1																																																																																				0.413	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			
NBR1	4077	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41349125	41349125	+	Splice_Site	SNP	T	T	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr17:41349125T>C	ENST00000422280.1	+	16	2485		c.e16+2		NBR1_ENST00000542611.1_Splice_Site|NBR1_ENST00000589872.1_Splice_Site|NBR1_ENST00000590996.1_Splice_Site|NBR1_ENST00000341165.6_Splice_Site|NBR1_ENST00000389312.4_Splice_Site	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1						macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CCTTGCAGAGTGAGTGTCCTT	0.517																																																	1	Unknown(1)	kidney(1)											70.0	60.0	63.0					17																	41349125		1568	3582	5150	SO:0001630	splice_region_variant	4077			X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.2026+2T>C	17.37:g.41349125T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Splice_Site	SNP	ENST00000422280.1	37	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.951641	0.73787	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.099	0.81152	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NBR1	38704651	1.000000	0.71417	0.998000	0.56505	0.695000	0.40330	6.291000	0.72719	2.210000	0.71456	0.482000	0.46254	.		0.517	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1		NM_005899	Intron
NCOA3	8202	hgsc.bcm.edu	37	20	46279866	46279866	+	Silent	SNP	A	A	G	rs578139784|rs112826888|rs1132443	byFrequency	TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr20:46279866A>G	ENST00000371998.3	+	20	3983	c.3792A>G	c.(3790-3792)caA>caG	p.Q1264Q	NCOA3_ENST00000372004.3_Silent_p.Q1260Q|NCOA3_ENST00000341724.6_Silent_p.Q1190Q|NCOA3_ENST00000371997.3_Silent_p.Q1255Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1264	Acetyltransferase.|Poly-Gln.				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)			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						agcagcagcaacagcaacagc	0.567													G|||	599	0.119609	0.2186	0.0663	5008	,	,		14499	0.0873		0.0726	False		,,,				2504	0.1053																0								G	,,,	561,3841		126,309,1766	56.0	66.0	62.0		3789,3765,3780,3792	0.0	0.2	20	dbSNP_86	62	436,8164		30,376,3894	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	156,685,5660	GG,GA,AA		5.0698,12.7442,7.6681	,,,	1263/1424,1255/1416,1260/1421,1264/1425	46279866	997,12005	2201	4300	6501	SO:0001819	synonymous_variant	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.3792A>G	20.37:g.46279866A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1		NM_006534	
NUP210L	91181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154029322	154029322	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:154029322C>T	ENST00000368559.3	-	23	3280	c.3209G>A	c.(3208-3210)aGa>aAa	p.R1070K	NUP210L_ENST00000271854.3_Missense_Mutation_p.R1070K|NUP210L_ENST00000368553.1_Missense_Mutation_p.R3K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1070					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.R1070K(1)|p.R1070I(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGTGTATTTTCTTCCCATCTT	0.378																																																	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											157.0	143.0	147.0					1																	154029322		1875	4116	5991	SO:0001583	missense	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3209G>A	1.37:g.154029322C>T	ENSP00000357547:p.Arg1070Lys	Somatic		WXS	Illumina HiSeq	Phase_I	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362906	0.41902	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.26518	3.47;1.73;3.23	4.95	4.02	0.46733	.	0.086330	0.50627	N	0.000112	T	0.08358	0.0208	M	0.64997	1.995	0.26817	N	0.968877	B;B	0.09022	0.001;0.002	B;B	0.08055	0.002;0.003	T	0.34054	-0.9844	10	0.09338	T	0.73	-32.6142	8.5269	0.33311	0.0:0.7627:0.1531:0.0842	.	1070;1070	E7EP56;Q5VU65	.;P210L_HUMAN	K	1070;3;1070	ENSP00000357547:R1070K;ENSP00000357541:R3K;ENSP00000271854:R1070K	ENSP00000271854:R1070K	R	-	2	0	NUP210L	152295946	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	2.189000	0.42621	1.268000	0.44264	0.650000	0.86243	AGA		0.378	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3		NM_207308	
NUAK2	81788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205272654	205272654	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:205272654C>T	ENST00000367157.3	-	7	1937	c.1811G>A	c.(1810-1812)tGc>tAc	p.C604Y		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2									p.C604Y(2)		breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAGGGAAAAGCAGCTGTCCCC	0.632																																																	2	Substitution - Missense(2)	kidney(2)											53.0	53.0	53.0					1																	205272654		2203	4300	6503	SO:0001583	missense	81788			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1811G>A	1.37:g.205272654C>T	ENSP00000356125:p.Cys604Tyr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000367157.3	37	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565953	0.45694	.	.	ENSG00000163545	ENST00000367157	T	0.72051	-0.62	4.94	4.03	0.46877	.	0.000000	0.47455	D	0.000229	T	0.68595	0.3018	L	0.54323	1.7	0.38585	D	0.95028	D	0.57899	0.981	P	0.45712	0.491	T	0.73613	-0.3927	10	0.56958	D	0.05	.	12.9314	0.58288	0.0:0.9196:0.0:0.0804	.	604	Q9H093	NUAK2_HUMAN	Y	604	ENSP00000356125:C604Y	ENSP00000356125:C604Y	C	-	2	0	NUAK2	203539277	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	4.072000	0.57563	1.079000	0.41038	0.298000	0.19748	TGC		0.632	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1		NM_030952	
OGDH	4967	broad.mit.edu;ucsc.edu	37	7	44733560	44733560	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr7:44733560C>A	ENST00000222673.5	+	11	1514	c.1472C>A	c.(1471-1473)gCc>gAc	p.A491D	OGDH_ENST00000444676.1_Missense_Mutation_p.A506D|OGDH_ENST00000439616.2_Missense_Mutation_p.A341D|OGDH_ENST00000449767.1_Missense_Mutation_p.A487D|OGDH_ENST00000447398.1_Missense_Mutation_p.A502D|OGDH_ENST00000543843.1_Missense_Mutation_p.A442D	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	491					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.A491D(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	AAAGTGGCGGCCGAGTGGAGG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											118.0	88.0	98.0					7																	44733560		2203	4300	6503	SO:0001583	missense	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1472C>A	7.37:g.44733560C>A	ENSP00000222673:p.Ala491Asp	Somatic		WXS	Illumina GAIIx	Phase_I	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265281	0.95399	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	D;D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.94;-3.94	5.69	5.69	0.88448	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98298	0.9436	M	0.92880	3.355	0.80722	D	1	D;D;D;D;D;D	0.63880	0.98;0.993;0.976;0.976;0.958;0.976	D;P;D;D;D;D	0.69654	0.948;0.906;0.965;0.965;0.93;0.965	D	0.98988	1.0807	10	0.87932	D	0	-31.9911	19.4294	0.94758	0.0:1.0:0.0:0.0	.	286;341;487;502;393;491	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218	.;.;.;.;.;ODO1_HUMAN	D	341;487;502;506;491;442	ENSP00000398576:A341D;ENSP00000392878:A487D;ENSP00000388183:A502D;ENSP00000414662:A506D;ENSP00000222673:A491D;ENSP00000443821:A442D	ENSP00000222673:A491D	A	+	2	0	OGDH	44700085	1.000000	0.71417	0.593000	0.28771	0.973000	0.67179	7.818000	0.86416	2.691000	0.91804	0.655000	0.94253	GCC		0.602	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			
PCLO	27445	broad.mit.edu;hgsc.bcm.edu	37	7	82474757	82474757	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr7:82474757C>T	ENST00000333891.9	-	13	14213	c.13876G>A	c.(13876-13878)Gca>Aca	p.A4626T	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Missense_Mutation_p.A4626T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.A4626T(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGAGTTCTGCTGCCAACTGC	0.433																																																	2	Substitution - Missense(2)	kidney(2)											82.0	79.0	80.0					7																	82474757		1929	4145	6074	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13876G>A	7.37:g.82474757C>T	ENSP00000334319:p.Ala4626Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833954	0.71373	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.17854	2.26;2.25	5.64	5.64	0.86602	.	.	.	.	.	T	0.42177	0.1191	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.997	D;D;D;D	0.87578	0.998;0.998;0.995;0.989	T	0.11792	-1.0573	9	0.87932	D	0	.	20.0625	0.97681	0.0:1.0:0.0:0.0	.	4626;4626;56;123	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	T	4626;4626;122	ENSP00000334319:A4626T;ENSP00000388393:A4626T	ENSP00000334319:A4626T	A	-	1	0	PCLO	82312693	1.000000	0.71417	0.816000	0.32577	0.995000	0.86356	7.212000	0.77941	2.816000	0.96949	0.561000	0.74099	GCA		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510	
PDE4C	5143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18331077	18331077	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr19:18331077G>A	ENST00000355502.3	-	11	1632	c.761C>T	c.(760-762)tCc>tTc	p.S254F	PDE4C_ENST00000447275.3_Missense_Mutation_p.S148F|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000262805.12_Missense_Mutation_p.S222F|PDE4C_ENST00000594617.3_Missense_Mutation_p.S254F|PDE4C_ENST00000598111.2_Missense_Mutation_p.S24F|PDE4C_ENST00000539010.1_Missense_Mutation_p.S23F|PDE4C_ENST00000597297.1_Missense_Mutation_p.S24F|PDE4C_ENST00000594465.3_Missense_Mutation_p.S254F			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	254					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.S254F(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CTGGTTCCCGGAGCGGCTGGT	0.567																																																	1	Substitution - Missense(1)	kidney(1)											106.0	114.0	111.0					19																	18331077		2203	4300	6503	SO:0001583	missense	5143				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.761C>T	19.37:g.18331077G>A	ENSP00000347689:p.Ser254Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315721	0.81469	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	T;T;T;T	0.80393	-1.37;-1.32;-1.22;-0.79	4.83	4.83	0.62350	.	1.501690	0.03720	N	0.251691	D	0.93288	0.7861	M	0.92923	3.36	0.48288	D	0.999624	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.74023	0.962;0.981;0.982;0.971	D	0.84463	0.0595	10	0.87932	D	0	.	15.4203	0.75006	0.0:0.0:1.0:0.0	.	254;222;60;24	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	F	333;254;242;222;148;60;23;23;363	ENSP00000347689:S254F;ENSP00000262805:S222F;ENSP00000402091:S148F;ENSP00000439470:S23F	ENSP00000262805:S222F	S	-	2	0	PDE4C	18192077	1.000000	0.71417	0.927000	0.36925	0.688000	0.40055	9.311000	0.96282	2.247000	0.74100	0.486000	0.48141	TCC		0.567	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			
PLEC	5339	broad.mit.edu;hgsc.bcm.edu	37	8	144996079	144996079	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr8:144996079G>C	ENST00000322810.4	-	32	8490	c.8321C>G	c.(8320-8322)gCg>gGg	p.A2774G	PLEC_ENST00000354958.2_Missense_Mutation_p.A2615G|PLEC_ENST00000354589.3_Missense_Mutation_p.A2637G|PLEC_ENST00000436759.2_Missense_Mutation_p.A2664G|PLEC_ENST00000356346.3_Missense_Mutation_p.A2623G|PLEC_ENST00000527096.1_Missense_Mutation_p.A2660G|PLEC_ENST00000357649.2_Missense_Mutation_p.A2641G|PLEC_ENST00000398774.2_Missense_Mutation_p.A2605G|PLEC_ENST00000345136.3_Missense_Mutation_p.A2637G	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2774	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.A2637G(1)|p.A2664G(1)|p.A2774G(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCCTCTGCCGCGGGGCCATC	0.687																																																	3	Substitution - Missense(3)	kidney(3)											13.0	16.0	15.0					8																	144996079		2061	4153	6214	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8321C>G	8.37:g.144996079G>C	ENSP00000323856:p.Ala2774Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	0.719	-0.784179	0.02907	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76448	-0.99;-0.99;-1.02;-1.02;-1.0;-0.99;-0.99;-0.99;-0.99	3.95	2.07	0.26955	.	0.431154	0.20447	U	0.092166	T	0.64080	0.2566	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.001;0.002;0.002;0.001;0.002;0.001;0.001;0.001	T	0.48927	-0.8991	10	0.26408	T	0.33	.	8.0236	0.30423	0.087:0.0:0.7547:0.1583	.	2664;2623;2615;2774;2605;2637;2641;2637	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	G	2637;2641;2637;2605;2774;2615;2623;2664;2660	ENSP00000344848:A2637G;ENSP00000350277:A2641G;ENSP00000346602:A2637G;ENSP00000381756:A2605G;ENSP00000323856:A2774G;ENSP00000347044:A2615G;ENSP00000348702:A2623G;ENSP00000388180:A2664G;ENSP00000434583:A2660G	ENSP00000323856:A2774G	A	-	2	0	PLEC	145068067	0.052000	0.20516	0.000000	0.03702	0.002000	0.02628	2.443000	0.44881	0.411000	0.25702	0.448000	0.29417	GCG		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445	
POLE	5426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	133233985	133233985	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr12:133233985G>T	ENST00000320574.5	-	28	3452	c.3409C>A	c.(3409-3411)Ctg>Atg	p.L1137M	POLE_ENST00000535270.1_Missense_Mutation_p.L1110M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1137					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.L1137M(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GCGCTTCCCAGCCGCTCAATG	0.582								DNA polymerases (catalytic subunits)																																									2	Substitution - Missense(2)	kidney(2)											57.0	55.0	56.0					12																	133233985		2203	4300	6503	SO:0001583	missense	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3409C>A	12.37:g.133233985G>T	ENSP00000322570:p.Leu1137Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750455	0.69533	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000536445;ENST00000376577	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	6.03	3.27	0.37495	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.52645	0.1747	M	0.93678	3.445	0.50813	D	0.999893	D;D	0.89917	0.999;1.0	D;D	0.78314	0.975;0.991	T	0.58036	-0.7707	10	0.87932	D	0	.	9.4387	0.38655	0.2652:0.0:0.7348:0.0	.	1110;1137	F5H1D6;Q07864	.;DPOE1_HUMAN	M	1137;1148;1110;917;114;1072	ENSP00000322570:L1137M;ENSP00000406383:L1148M;ENSP00000445753:L1110M;ENSP00000442519:L917M	ENSP00000322570:L1137M	L	-	1	2	POLE	131744058	1.000000	0.71417	0.941000	0.38009	0.977000	0.68977	2.660000	0.46749	0.469000	0.27268	-0.781000	0.03364	CTG		0.582	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2		NM_006231	
PTPRU	10076	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	29638000	29638000	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:29638000C>G	ENST00000345512.3	+	21	3049	c.2920C>G	c.(2920-2922)Cgt>Ggt	p.R974G	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.R970G|PTPRU_ENST00000428026.2_Missense_Mutation_p.R964G|PTPRU_ENST00000356870.3_Missense_Mutation_p.R970G|PTPRU_ENST00000460170.2_Missense_Mutation_p.R970G|PTPRU_ENST00000373779.3_Missense_Mutation_p.R964G	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	974	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R970G(2)|p.R974G(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGACTTCTGGCGTATGGTGTG	0.627																																																	3	Substitution - Missense(3)	kidney(3)											119.0	99.0	106.0					1																	29638000		2203	4300	6503	SO:0001583	missense	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2920C>G	1.37:g.29638000C>G	ENSP00000334941:p.Arg974Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683631	0.68157	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29	4.76	3.78	0.43462	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	H	0.98089	4.145	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.83033	-0.0161	9	.	.	.	.	14.2047	0.65728	0.1495:0.8505:0.0:0.0	.	964;970;964;970;974	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	G	974;964;970;970;964;970	ENSP00000334941:R974G;ENSP00000362884:R964G;ENSP00000349333:R970G;ENSP00000314987:R970G;ENSP00000392332:R964G;ENSP00000432906:R970G	.	R	+	1	0	PTPRU	29510587	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.428000	0.44749	2.640000	0.89533	0.655000	0.94253	CGT		0.627	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			
RABGAP1L	9910	hgsc.bcm.edu;ucsc.edu	37	1	174781011	174781011	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:174781011delT	ENST00000251507.4	+	19	2427	c.2253delT	c.(2251-2253)gctfs	p.A751fs	RABGAP1L_ENST00000347255.2_Frame_Shift_Del_p.A78fs|RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000367687.1_Frame_Shift_Del_p.A77fs|RABGAP1L_ENST00000325589.5_Frame_Shift_Del_p.A58fs|RABGAP1L_ENST00000489615.1_Frame_Shift_Del_p.A70fs	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TTGAAGGTGCTTTAAAGTTCT	0.393																																																	0													87.0	89.0	88.0					1																	174781011		2203	4300	6503	SO:0001589	frameshift_variant	9910			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.2253delT	1.37:g.174781011delT	ENSP00000251507:p.Ala751fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZAA4	Frame_Shift_Del	DEL	ENST00000251507.4	37	CCDS1314.1																																																																																				0.393	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1		NM_001243765	
RAPGEF2	9693	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	160273880	160273880	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr4:160273880T>A	ENST00000264431.4	+	21	3845	c.3426T>A	c.(3424-3426)gaT>gaA	p.D1142E		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1142	Ser-rich.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.D1130E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ATTTTTCAGATTCTGGTCACA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											112.0	105.0	107.0					4																	160273880		1891	4109	6000	SO:0001583	missense	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3426T>A	4.37:g.160273880T>A	ENSP00000264431:p.Asp1142Glu	Somatic		WXS	Illumina HiSeq	Phase_I	D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	22.9|22.9|22.9	4.350327|4.350327|4.350327	0.82132|0.82132|0.82132	.|.|.	.|.|.	ENSG00000109756|ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000505026|ENST00000510253	T|.|.	0.51071|.|.	0.72|.|.	6.07|6.07|6.07	0.903|0.903|0.903	0.19296|0.19296|0.19296	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.61924|0.61924|0.61924	0.2386|0.2386|0.2386	M|M|M	0.64404|0.64404|0.64404	1.975|1.975|1.975	0.45502|0.45502|0.45502	D|D|D	0.998462|0.998462|0.998462	D|.|.	0.89917|.|.	1.0|.|.	D|.|.	0.85130|.|.	0.997|.|.	T|T|T	0.57039|0.57039|0.57039	-0.7879|-0.7879|-0.7879	10|5|5	0.33940|.|.	T|.|.	0.23|.|.	.|.|.	11.1831|11.1831|11.1831	0.48640|0.48640|0.48640	0.0:0.3767:0.0:0.6233|0.0:0.3767:0.0:0.6233|0.0:0.3767:0.0:0.6233	.|.|.	1142|.|.	Q9Y4G8|.|.	RPGF2_HUMAN|.|.	E|I|N	1142|77|199	ENSP00000264431:D1142E|.|.	ENSP00000264431:D1142E|.|.	D|F|I	+|+|+	3|1|2	2|0|0	RAPGEF2|RAPGEF2|RAPGEF2	160493330|160493330|160493330	0.995000|0.995000|0.995000	0.38212|0.38212|0.38212	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	0.309000|0.309000|0.309000	0.19332|0.19332|0.19332	-0.044000|-0.044000|-0.044000	0.13491|0.13491|0.13491	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAT|TTC|ATT		0.423	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2		NM_014247	
RBL2	5934	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	53495738	53495738	+	Nonsense_Mutation	SNP	G	G	T	rs556478318		TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr16:53495738G>T	ENST00000262133.6	+	10	1569	c.1432G>T	c.(1432-1434)Gag>Tag	p.E478*	RBL2_ENST00000544545.1_Nonsense_Mutation_p.E262*|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	478	Domain A.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.E478*(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAGCCAGACGAGGATTTCAG	0.338																																																	1	Substitution - Nonsense(1)	kidney(1)											135.0	128.0	130.0					16																	53495738		2198	4300	6498	SO:0001587	stop_gained	5934			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1432G>T	16.37:g.53495738G>T	ENSP00000262133:p.Glu478*	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Nonsense_Mutation	SNP	ENST00000262133.6	37	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519492	0.96416	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000379935;ENST00000544545	.	.	.	6.07	6.07	0.98685	.	0.230546	0.44688	D	0.000439	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-19.3323	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	478;404;188;262	.	ENSP00000262133:E478X	E	+	1	0	RBL2	52053239	1.000000	0.71417	0.993000	0.49108	0.079000	0.17450	7.763000	0.85283	2.885000	0.99019	0.655000	0.94253	GAG		0.338	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3		NM_005611	
RDH5	5959	broad.mit.edu;ucsc.edu	37	12	56115023	56115023	+	Missense_Mutation	SNP	A	A	G	rs564727158		TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr12:56115023A>G	ENST00000257895.5	+	2	207	c.55A>G	c.(55-57)Agg>Ggg	p.R19G	RDH5_ENST00000548082.1_Missense_Mutation_p.R19G|RDH5_ENST00000553160.1_Intron|RP11-644F5.10_ENST00000550412.1_Intron|RDH5_ENST00000547072.1_Intron|RP11-644F5.10_ENST00000549424.1_Intron	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	19					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)	p.R19G(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	GTGGTTGCTCAGGGACCGGCA	0.622											OREG0021907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											76.0	67.0	70.0					12																	56115023		2203	4300	6503	SO:0001583	missense	5959			U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	9940	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 5"""	601617	"""retinol dehydrogenase 5 (11-cis and 9-cis)"""	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	ENST00000257895.5:c.55A>G	12.37:g.56115023A>G	ENSP00000257895:p.Arg19Gly	Somatic	1013	WXS	Illumina GAIIx	Phase_I	O00179|Q8TAI2	Missense_Mutation	SNP	ENST00000257895.5	37	CCDS31829.1	.	.	.	.	.	.	.	.	.	.	A	0.814	-0.751099	0.03041	.	.	ENSG00000135437	ENST00000257895;ENST00000548082	T;T	0.72615	-0.67;-0.67	5.11	1.56	0.23342	.	0.233820	0.43747	D	0.000526	T	0.73489	0.3593	L	0.47190	1.495	0.40555	D	0.981153	D	0.76494	0.999	D	0.66084	0.941	T	0.69873	-0.5027	10	0.49607	T	0.09	.	7.3344	0.26601	0.4593:0.4269:0.0:0.1138	.	19	Q92781	RDH1_HUMAN	G	19	ENSP00000257895:R19G;ENSP00000447128:R19G	ENSP00000257895:R19G	R	+	1	2	RDH5	54401290	0.190000	0.23276	0.150000	0.22450	0.020000	0.10135	1.200000	0.32247	0.046000	0.15833	-0.333000	0.08304	AGG		0.622	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407493.1		NM_002905	
SGOL2	151246	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	201437495	201437495	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr2:201437495G>T	ENST00000357799.4	+	7	2524	c.2426G>T	c.(2425-2427)aGa>aTa	p.R809I		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	809					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.R809I(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAGAAGCCTAGACTAAATGTA	0.338																																																	1	Substitution - Missense(1)	kidney(1)											80.0	75.0	76.0					2																	201437495		1831	4076	5907	SO:0001583	missense	151246			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2426G>T	2.37:g.201437495G>T	ENSP00000350447:p.Arg809Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289723	0.23478	.	.	ENSG00000163535	ENST00000357799	T	0.23950	1.88	4.35	1.49	0.22878	.	0.396861	0.21802	N	0.068910	T	0.41119	0.1145	M	0.72894	2.215	0.58432	D	0.999999	D;D;D	0.67145	0.996;0.989;0.996	D;P;D	0.65010	0.931;0.885;0.919	T	0.21895	-1.0232	10	0.87932	D	0	-4.3529	5.8278	0.18564	0.3509:0.0:0.6491:0.0	.	809;809;809	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	I	809	ENSP00000350447:R809I	ENSP00000350447:R809I	R	+	2	0	SGOL2	201145740	0.703000	0.27826	0.977000	0.42913	0.001000	0.01503	1.104000	0.31074	0.333000	0.23563	-0.225000	0.12378	AGA		0.338	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1		NM_152524	
SIPA1L3	23094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	38572298	38572298	+	Silent	SNP	A	A	G			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr19:38572298A>G	ENST00000222345.6	+	3	602	c.93A>G	c.(91-93)acA>acG	p.T31T		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	31					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.T31T(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCCACACACAGGGGACTACG	0.682																																																	1	Substitution - coding silent(1)	kidney(1)											29.0	27.0	28.0					19																	38572298		2197	4294	6491	SO:0001819	synonymous_variant	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.93A>G	19.37:g.38572298A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q2TV87	Silent	SNP	ENST00000222345.6	37	CCDS33007.1																																																																																				0.682	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2		XM_032278	
SLC12A2	6558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	127497486	127497486	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr5:127497486G>C	ENST00000262461.2	+	17	2799	c.2610G>C	c.(2608-2610)ttG>ttC	p.L870F	SLC12A2_ENST00000343225.4_Missense_Mutation_p.L870F	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	870					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.L870F(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CACAGTATTTGATGCAGGTAA	0.318																																																	1	Substitution - Missense(1)	kidney(1)											79.0	75.0	76.0					5																	127497486		2203	4299	6502	SO:0001583	missense	6558				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2610G>C	5.37:g.127497486G>C	ENSP00000262461:p.Leu870Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224056	0.58668	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.96522	-4.04;-4.04	5.44	1.64	0.23874	.	0.073913	0.56097	D	0.000035	D	0.97826	0.9286	M	0.93808	3.46	0.58432	D	0.999999	D;D;D	0.76494	0.992;0.999;0.986	P;D;P	0.70935	0.897;0.971;0.793	D	0.95916	0.8927	10	0.87932	D	0	.	4.3761	0.11270	0.4329:0.0:0.4149:0.1523	.	870;84;870	P55011-3;Q59GB7;P55011	.;.;S12A2_HUMAN	F	870	ENSP00000262461:L870F;ENSP00000340878:L870F	ENSP00000262461:L870F	L	+	3	2	SLC12A2	127525385	0.998000	0.40836	1.000000	0.80357	0.975000	0.68041	0.339000	0.19875	0.428000	0.26173	0.650000	0.86243	TTG		0.318	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1		NM_001046	
SLC17A4	10050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	25779371	25779371	+	Silent	SNP	A	A	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr6:25779371A>T	ENST00000377905.4	+	12	1568	c.1449A>T	c.(1447-1449)gcA>gcT	p.A483A	SLC17A4_ENST00000439485.2_Silent_p.A253A|SLC17A4_ENST00000397076.2_3'UTR	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	483					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.A483A(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTGGCCGAGCAGATGTGCAGG	0.483																																																	1	Substitution - coding silent(1)	kidney(1)											203.0	190.0	194.0					6																	25779371		2203	4300	6503	SO:0001819	synonymous_variant	10050			AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.1449A>T	6.37:g.25779371A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Silent	SNP	ENST00000377905.4	37	CCDS4564.1																																																																																				0.483	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			
SLC24A2	25769	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	19550217	19550217	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr9:19550217T>A	ENST00000341998.2	-	7	1458	c.1397A>T	c.(1396-1398)gAa>gTa	p.E466V	SLC24A2_ENST00000286344.3_Missense_Mutation_p.E449V	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	466					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)	p.E466V(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTTGCGGGTTTCAGAAGGCCA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											124.0	125.0	125.0					9																	19550217		2203	4300	6503	SO:0001583	missense	25769			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1397A>T	9.37:g.19550217T>A	ENSP00000344801:p.Glu466Val	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.424723	0.25639	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.75367	-0.93;-0.93	5.12	2.66	0.31614	.	0.771206	0.12557	N	0.458543	T	0.52693	0.1750	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.18871	0.023;0.007	T	0.31138	-0.9954	9	.	.	.	.	5.8332	0.18593	0.0:0.0957:0.3578:0.5464	.	449;466	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	V	466;449	ENSP00000344801:E466V;ENSP00000286344:E449V	.	E	-	2	0	SLC24A2	19540217	0.091000	0.21658	0.002000	0.10522	0.380000	0.30137	1.224000	0.32539	2.050000	0.60909	0.533000	0.62120	GAA		0.423	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2		NM_020344	
SLC8B1	80024	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	113742186	113742186	+	Silent	SNP	G	G	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr12:113742186G>A	ENST00000552014.1	-	16	2012	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	SLC8B1_ENST00000202831.3_Silent_p.I499I|SLC8B1_ENST00000546737.1_Silent_p.I443I|SLC8B1_ENST00000550047.1_Silent_p.I14I|SLC8B1_ENST00000549069.1_Silent_p.I58I			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	499					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)	p.I499I(1)									CACCCACGAGGATGTCTGCAG	0.537																																																	1	Substitution - coding silent(1)	kidney(1)											100.0	97.0	98.0					12																	113742186		2203	4300	6503	SO:0001819	synonymous_variant	80024			AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1497C>T	12.37:g.113742186G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Silent	SNP	ENST00000552014.1	37	CCDS31909.1																																																																																				0.537	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3		NM_024959	
SLC8B1	80024	hgsc.bcm.edu;ucsc.edu	37	12	113742187	113742187	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr12:113742187A>T	ENST00000552014.1	-	16	2011	c.1496T>A	c.(1495-1497)aTc>aAc	p.I499N	SLC8B1_ENST00000202831.3_Missense_Mutation_p.I499N|SLC8B1_ENST00000546737.1_Missense_Mutation_p.I443N|SLC8B1_ENST00000550047.1_Missense_Mutation_p.I14N|SLC8B1_ENST00000549069.1_Missense_Mutation_p.I58N			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	499					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										ACCCACGAGGATGTCTGCAGC	0.532																																																	0													100.0	97.0	98.0					12																	113742187		2203	4300	6503	SO:0001583	missense	80024			AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1496T>A	12.37:g.113742187A>T	ENSP00000447091:p.Ile499Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP	ENST00000552014.1	37	CCDS31909.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.819385	0.90873	.	.	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000377458;ENST00000550047;ENST00000549069;ENST00000546737	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.35	5.35	0.76521	Sodium/calcium exchanger membrane region (1);	0.176782	0.47093	D	0.000249	T	0.72020	0.3409	M	0.81614	2.55	0.54753	D	0.999988	B;B	0.33940	0.24;0.433	B;B	0.38803	0.235;0.282	T	0.76016	-0.3113	10	0.87932	D	0	.	14.2054	0.65730	1.0:0.0:0.0:0.0	.	499;204	Q6J4K2;B3KSP6	NCKX6_HUMAN;.	N	499;499;443;14;58;443	ENSP00000447091:I499N;ENSP00000202831:I499N;ENSP00000447585:I14N;ENSP00000449519:I58N;ENSP00000450081:I443N	ENSP00000202831:I499N	I	-	2	0	SLC24A6	112226570	1.000000	0.71417	0.991000	0.47740	0.982000	0.71751	7.845000	0.86875	2.038000	0.60285	0.444000	0.29173	ATC		0.532	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3		NM_024959	
SLC8B1	80024	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	113758188	113758188	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr12:113758188G>T	ENST00000552014.1	-	8	1157	c.642C>A	c.(640-642)ttC>ttA	p.F214L	SLC8B1_ENST00000202831.3_Missense_Mutation_p.F214L|SLC8B1_ENST00000546737.1_Intron|SLC8B1_ENST00000553238.1_Intron			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	214					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)	p.F214L(1)									GGAAGGTCAGGAACACAGCCA	0.602																																																	1	Substitution - Missense(1)	kidney(1)											179.0	179.0	179.0					12																	113758188		2203	4300	6503	SO:0001583	missense	80024			AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.642C>A	12.37:g.113758188G>T	ENSP00000447091:p.Phe214Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP	ENST00000552014.1	37	CCDS31909.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526551	0.44969	.	.	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000549181	T;T;T	0.58210	0.35;0.35;0.35	4.47	2.61	0.31194	Sodium/calcium exchanger membrane region (1);	0.134298	0.50627	N	0.000115	T	0.35595	0.0937	L	0.33245	0.995	0.52099	D	0.999941	B	0.20988	0.05	B	0.27076	0.076	T	0.05937	-1.0855	10	0.15066	T	0.55	.	5.6189	0.17446	0.2388:0.1437:0.6175:0.0	.	214	Q6J4K2	NCKX6_HUMAN	L	214	ENSP00000447091:F214L;ENSP00000202831:F214L;ENSP00000448703:F214L	ENSP00000202831:F214L	F	-	3	2	SLC24A6	112242571	1.000000	0.71417	0.999000	0.59377	0.883000	0.51084	0.964000	0.29306	0.336000	0.23639	0.462000	0.41574	TTC		0.602	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3		NM_024959	
SLC30A9	10463	broad.mit.edu;hgsc.bcm.edu	37	4	42072678	42072678	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr4:42072678C>G	ENST00000264451.7	+	15	1568	c.1388C>G	c.(1387-1389)aCt>aGt	p.T463S		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	463					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T463S(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAACGGCTCACTGAACTCCTG	0.448																																																	1	Substitution - Missense(1)	kidney(1)											138.0	115.0	122.0					4																	42072678		2203	4300	6503	SO:0001583	missense	10463			AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.1388C>G	4.37:g.42072678C>G	ENSP00000264451:p.Thr463Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Missense_Mutation	SNP	ENST00000264451.7	37	CCDS3465.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766764	0.69878	.	.	ENSG00000014824	ENST00000264451;ENST00000536881	T	0.62364	0.03	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	N	0.17631	0.505	0.80722	D	1	B	0.29766	0.256	B	0.33960	0.173	T	0.43572	-0.9383	10	0.13470	T	0.59	-13.3357	19.2006	0.93711	0.0:1.0:0.0:0.0	.	463	Q6PML9	ZNT9_HUMAN	S	463;291	ENSP00000264451:T463S	ENSP00000264451:T463S	T	+	2	0	SLC30A9	41767435	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.731000	0.84895	2.597000	0.87782	0.655000	0.94253	ACT		0.448	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3			
STK31	56164	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	23775341	23775341	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr7:23775341A>T	ENST00000355870.3	+	7	787	c.668A>T	c.(667-669)gAa>gTa	p.E223V	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E223V|STK31_ENST00000354639.3_Missense_Mutation_p.E200V|STK31_ENST00000428484.1_Missense_Mutation_p.E200V	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	223						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.E223V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATCTGTGAGGAAAAAAAATTG	0.473																																																	1	Substitution - Missense(1)	kidney(1)											102.0	100.0	101.0					7																	23775341		2203	4300	6503	SO:0001583	missense	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.668A>T	7.37:g.23775341A>T	ENSP00000348132:p.Glu223Val	Somatic		WXS	Illumina HiSeq	Phase_I	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	a	12.31	1.899406	0.33535	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	5.16	2.73	0.32206	.	0.303685	0.31648	N	0.007298	T	0.11495	0.0280	N	0.24115	0.695	0.23845	N	0.996684	P;P	0.39282	0.666;0.666	B;B	0.33339	0.162;0.115	T	0.14448	-1.0472	10	0.72032	D	0.01	-4.2431	7.1773	0.25753	0.7673:0.1528:0.0799:0.0	.	223;223	B4DZ06;Q9BXU1	.;STK31_HUMAN	V	223;223;200;200	ENSP00000348132:E223V;ENSP00000411852:E223V;ENSP00000346660:E200V;ENSP00000406146:E200V	ENSP00000346660:E200V	E	+	2	0	STK31	23741866	1.000000	0.71417	0.989000	0.46669	0.422000	0.31414	3.093000	0.50217	0.361000	0.24292	-0.456000	0.05471	GAA		0.473	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2		NM_031414	
TMPRSS15	5651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	19701513	19701513	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr21:19701513C>A	ENST00000284885.3	-	15	1786	c.1753G>T	c.(1753-1755)Ggt>Tgt	p.G585C		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	585	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.G585C(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCTTCTTCACCATCTCTTATT	0.328																																																	1	Substitution - Missense(1)	kidney(1)											111.0	106.0	107.0					21																	19701513		2203	4299	6502	SO:0001583	missense	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1753G>T	21.37:g.19701513C>A	ENSP00000284885:p.Gly585Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202155	0.58234	.	.	ENSG00000154646	ENST00000284885	T	0.27402	1.67	5.53	4.65	0.58169	CUB (5);	0.286036	0.32533	N	0.005977	T	0.65080	0.2657	H	0.94183	3.505	0.50039	D	0.999849	D	0.89917	1.0	D	0.91635	0.999	T	0.75007	-0.3469	9	.	.	.	.	12.3361	0.55067	0.0:0.9176:0.0:0.0824	.	585	P98073	ENTK_HUMAN	C	585	ENSP00000284885:G585C	.	G	-	1	0	TMPRSS15	18623384	1.000000	0.71417	0.984000	0.44739	0.631000	0.37964	4.023000	0.57211	1.475000	0.48197	0.655000	0.94253	GGT		0.328	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2		NM_002772	
TNFRSF9	3604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	7998781	7998781	+	Splice_Site	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:7998781C>A	ENST00000377507.3	-	3	374	c.208G>T	c.(208-210)Ggt>Tgt	p.G70C		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	70					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.G70C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GAACTCATACCTTTACACTGC	0.398																																																	1	Substitution - Missense(1)	kidney(1)											176.0	178.0	177.0					1																	7998781		2203	4300	6503	SO:0001630	splice_region_variant	3604			L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.208+1G>T	1.37:g.7998781C>A		Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000377507.3	37	CCDS92.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596826	0.46318	.	.	ENSG00000049249	ENST00000377507	D	0.98178	-4.77	5.39	5.39	0.77823	TNFR/CD27/30/40/95 cysteine-rich region (3);	0.000000	0.85682	D	0.000000	D	0.98223	0.9412	L	0.47190	1.495	0.48341	D	0.99963	D	0.89917	1.0	D	0.97110	1.0	D	0.97864	1.0282	9	.	.	.	-25.1718	15.0045	0.71501	0.0:1.0:0.0:0.0	.	70	Q07011	TNR9_HUMAN	C	70	ENSP00000366729:G70C	.	G	-	1	0	TNFRSF9	7921368	1.000000	0.71417	0.999000	0.59377	0.022000	0.10575	3.442000	0.52900	2.698000	0.92095	0.563000	0.77884	GGT		0.398	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1			Missense_Mutation
TPR	7175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186327744	186327744	+	Silent	SNP	G	G	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:186327744G>A	ENST00000367478.4	-	13	1724	c.1428C>T	c.(1426-1428)aaC>aaT	p.N476N	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	476	Necessary for association to the NPC.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.N476N(1)|p.N477N(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATGATTGCTTGTTGGCTTTAT	0.313			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	2	Substitution - coding silent(2)	kidney(2)											199.0	181.0	186.0					1																	186327744		1890	4132	6022	SO:0001819	synonymous_variant	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1428C>T	1.37:g.186327744G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	CCDS41446.1																																																																																				0.313	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2		NM_003292	
TRAF5	7188	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	211545865	211545865	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:211545865T>A	ENST00000261464.5	+	11	1549	c.1495T>A	c.(1495-1497)Ttc>Atc	p.F499I	TRAF5_ENST00000336184.2_Missense_Mutation_p.F499I|TRAF5_ENST00000427925.2_Missense_Mutation_p.F393I|TRAF5_ENST00000367004.3_Missense_Mutation_p.F499I	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	499	Interaction with EIF2AK2/PKR.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F499I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TATGGAGACCTTCAAACCTGA	0.498																																																	1	Substitution - Missense(1)	kidney(1)											92.0	83.0	86.0					1																	211545865		2203	4300	6503	SO:0001583	missense	7188			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.1495T>A	1.37:g.211545865T>A	ENSP00000261464:p.Phe499Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	ENST00000261464.5	37	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	T	32	5.124026	0.94429	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.51	5.51	0.81932	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	M	0.61703	1.905	0.58432	D	0.999997	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.995;1.0;0.999	T	0.64980	-0.6279	10	0.62326	D	0.03	-8.2752	15.907	0.79439	0.0:0.0:0.0:1.0	.	393;510;499	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	I	499;393;499;499	ENSP00000336825:F499I;ENSP00000389891:F393I;ENSP00000261464:F499I;ENSP00000355971:F499I	ENSP00000261464:F499I	F	+	1	0	TRAF5	209612488	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.708000	0.84633	2.210000	0.71456	0.528000	0.53228	TTC		0.498	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1		NM_004619	
UHRF1BP1	54887	hgsc.bcm.edu;ucsc.edu	37	6	34825920	34825921	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr6:34825920_34825921delAG	ENST00000192788.5	+	14	1958_1959	c.1787_1788delAG	c.(1786-1788)aagfs	p.K596fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.K596fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	596							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CCACTGGAAAAGAGAGAGCGGG	0.455																																																	0																																										SO:0001589	frameshift_variant	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1787_1788delAG	6.37:g.34825926_34825927delAG	ENSP00000192788:p.Lys596fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NXE0	Frame_Shift_Del	DEL	ENST00000192788.5	37	CCDS43455.1																																																																																				0.455	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1		NM_017754	
WAPAL	23063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	88230845	88230845	+	Silent	SNP	A	A	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr10:88230845A>T	ENST00000298767.5	-	8	2518	c.2046T>A	c.(2044-2046)gcT>gcA	p.A682A	WAPAL_ENST00000263070.7_5'Flank	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	682	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)		p.A682A(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CACATTTAGTAGCCAAGCTAA	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											85.0	77.0	79.0					10																	88230845		2203	4300	6503	SO:0001819	synonymous_variant	23063			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.2046T>A	10.37:g.88230845A>T		Somatic		WXS	Illumina HiSeq	Phase_I	A7E2B5|Q5VSK5|Q8IX10|Q92549	Silent	SNP	ENST00000298767.5	37	CCDS7375.1																																																																																				0.423	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2		NM_015045	
WDR1	9948	broad.mit.edu;ucsc.edu	37	4	10089380	10089380	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr4:10089380delA	ENST00000499869.2	-	8	1095	c.902delT	c.(901-903)atcfs	p.I301fs	WDR1_ENST00000502702.1_Frame_Shift_Del_p.I161fs|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382451.2_Frame_Shift_Del_p.I161fs|WDR1_ENST00000382452.2_Frame_Shift_Del_p.I301fs			O75083	WDR1_HUMAN	WD repeat domain 1	301					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CAGATAGTTGATGTACCCGGA	0.602																																																	0													54.0	63.0	60.0					4																	10089380		2047	4196	6243	SO:0001589	frameshift_variant	9948			AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.902delT	4.37:g.10089380delA	ENSP00000427687:p.Ile301fs	Somatic		WXS	Illumina GAIIx	Phase_I	A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Frame_Shift_Del	DEL	ENST00000499869.2	37	CCDS54740.1																																																																																				0.602	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			
WDFY3	23001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	85654653	85654653	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr4:85654653T>A	ENST00000295888.4	-	44	7510	c.7103A>T	c.(7102-7104)aAg>aTg	p.K2368M	WDFY3_ENST00000322366.6_Missense_Mutation_p.K2368M	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2368	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.K2368M(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAGCATCCACTTGTCGAGGTG	0.537																																																	1	Substitution - Missense(1)	kidney(1)											106.0	117.0	113.0					4																	85654653		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7103A>T	4.37:g.85654653T>A	ENSP00000295888:p.Lys2368Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427358	0.62733	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	D;D	0.90844	-2.74;-2.74	5.66	4.47	0.54385	Cyclin-like (1);	0.000000	0.85682	D	0.000000	D	0.94801	0.8321	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94607	0.7801	10	0.87932	D	0	.	11.6611	0.51347	0.0:0.0695:0.0:0.9305	.	2368	Q8IZQ1	WDFY3_HUMAN	M	2368	ENSP00000318466:K2368M;ENSP00000295888:K2368M	ENSP00000295888:K2368M	K	-	2	0	WDFY3	85873677	1.000000	0.71417	0.944000	0.38274	0.323000	0.28346	8.040000	0.89188	0.955000	0.37878	-0.297000	0.09499	AAG		0.537	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991	
ZBTB7A	51341	broad.mit.edu;hgsc.bcm.edu	37	19	4048233	4048233	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr19:4048233C>A	ENST00000322357.4	-	3	1550	c.1272G>T	c.(1270-1272)aaG>aaT	p.K424N	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.K424N	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	424					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)	p.K424N(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCTTCAGCTTGTCCTGCC	0.692																																																	1	Substitution - Missense(1)	kidney(1)											29.0	32.0	31.0					19																	4048233		2203	4300	6503	SO:0001583	missense	51341			AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1272G>T	19.37:g.4048233C>A	ENSP00000323670:p.Lys424Asn	Somatic		WXS	Illumina HiSeq	Phase_I	D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486571	0.63962	.	.	ENSG00000178951	ENST00000322357	T	0.07444	3.19	3.84	3.84	0.44239	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	T	0.07863	0.0197	N	0.00926	-1.1	0.42298	D	0.992163	D	0.89917	1.0	D	0.91635	0.999	T	0.58222	-0.7674	10	0.30854	T	0.27	.	13.248	0.60033	0.0:1.0:0.0:0.0	.	424	O95365	ZBT7A_HUMAN	N	424	ENSP00000323670:K424N	ENSP00000323670:K424N	K	-	3	2	ZBTB7A	3999233	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.405000	0.44548	1.700000	0.51204	0.542000	0.68232	AAG		0.692	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2		NM_015898	
ZC3H13	23091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	46577388	46577388	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr13:46577388C>T	ENST00000242848.4	-	8	1178	c.830G>A	c.(829-831)gGg>gAg	p.G277E	ZC3H13_ENST00000282007.3_Missense_Mutation_p.G277E|ZC3H13_ENST00000470308.1_5'UTR			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	277							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G277E(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GTATTTTTTCCCCAGAGCGAT	0.368																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												1	Substitution - Missense(1)	kidney(1)											133.0	128.0	130.0					13																	46577388		2203	4300	6503	SO:0001583	missense	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.830G>A	13.37:g.46577388C>T	ENSP00000242848:p.Gly277Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	C	12.73	2.025947	0.35701	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.33654	2.39;1.4	5.62	4.77	0.60923	.	0.000000	0.64402	D	0.000019	T	0.51975	0.1706	L	0.59436	1.845	0.80722	D	1	D;D	0.63046	0.986;0.992	P;P	0.60068	0.541;0.868	T	0.50415	-0.8831	10	0.37606	T	0.19	.	15.5937	0.76562	0.0:0.6143:0.3857:0.0	.	277;277	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	E	277;277;93	ENSP00000242848:G277E;ENSP00000282007:G277E	ENSP00000242848:G277E	G	-	2	0	ZC3H13	45475389	0.970000	0.33590	0.998000	0.56505	0.952000	0.60782	2.682000	0.46934	1.501000	0.48654	0.655000	0.94253	GGG		0.368	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1		NM_015070	
ZNF211	10520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58153167	58153167	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr19:58153167C>G	ENST00000347302.3	+	3	1492	c.1313C>G	c.(1312-1314)tCc>tGc	p.S438C	ZNF211_ENST00000240731.4_Missense_Mutation_p.S451C|ZNF211_ENST00000299871.5_Missense_Mutation_p.S503C|ZNF211_ENST00000544273.1_Missense_Mutation_p.S450C|ZNF211_ENST00000541801.1_Missense_Mutation_p.S429C|ZNF211_ENST00000420680.1_Missense_Mutation_p.S442C|ZNF211_ENST00000254182.7_Missense_Mutation_p.S429C|ZNF211_ENST00000391703.3_Missense_Mutation_p.S377C	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S451C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGCAAAGCTCCAGCTTCAGT	0.488																																																	1	Substitution - Missense(1)	kidney(1)											92.0	93.0	92.0					19																	58153167		2203	4300	6503	SO:0001583	missense	10520			U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1313C>G	19.37:g.58153167C>G	ENSP00000339562:p.Ser438Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	CCDS12957.1	.	.	.	.	.	.	.	.	.	.	c	13.91	2.379455	0.42207	.	.	ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	T;T;T;T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11	3.21	0.706	0.18133	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27629	0.0679	M	0.85630	2.765	0.09310	N	1	B;B;D;D;B;B	0.71674	0.022;0.184;0.998;0.996;0.061;0.061	B;B;D;P;B;B	0.72982	0.012;0.133;0.979;0.895;0.035;0.035	T	0.03121	-1.1070	9	0.62326	D	0.03	.	8.4457	0.32841	0.1701:0.6635:0.1663:0.0	.	442;450;503;429;438;451	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.;.;.;.;ZN211_HUMAN;.	C	442;438;429;377;429;503;450;451	ENSP00000399193:S442C;ENSP00000339562:S438C;ENSP00000254182:S429C;ENSP00000375584:S377C;ENSP00000442601:S429C;ENSP00000299871:S503C;ENSP00000441386:S450C;ENSP00000240731:S451C	ENSP00000240731:S451C	S	+	2	0	ZNF211	62844979	0.000000	0.05858	0.005000	0.12908	0.974000	0.67602	-0.059000	0.11731	0.645000	0.30675	0.585000	0.79938	TCC		0.488	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			
ZSCAN1	284312	hgsc.bcm.edu	37	19	58551902	58551902	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr19:58551902A>C	ENST00000282326.1	+	4	702	c.455A>C	c.(454-456)gAa>gCa	p.E152A		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	152					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.E152A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TCCCAGAAAGAACCATCGCAG	0.627																																																	1	Substitution - Missense(1)	kidney(1)											88.0	95.0	93.0					19																	58551902		2203	4300	6503	SO:0001583	missense	284312			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.455A>C	19.37:g.58551902A>C	ENSP00000282326:p.Glu152Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	A	9.173	1.021530	0.19433	.	.	ENSG00000152467	ENST00000282326	T	0.04194	3.68	1.09	1.09	0.20402	.	.	.	.	.	T	0.02193	0.0068	N	0.14661	0.345	0.80722	D	1	B	0.26002	0.139	B	0.20384	0.029	T	0.45293	-0.9271	9	0.08837	T	0.75	.	4.386	0.11316	1.0:0.0:0.0:0.0	.	152	Q8NBB4	ZSCA1_HUMAN	A	152	ENSP00000282326:E152A	ENSP00000282326:E152A	E	+	2	0	ZSCAN1	63243714	0.001000	0.12720	0.933000	0.37362	0.806000	0.45545	0.072000	0.14617	0.747000	0.32809	0.260000	0.18958	GAA		0.627	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1		NM_182572	
ZNF800	168850	ucsc.edu	37	7	127031545	127031546	+	Intron	DNP	GT	GT	TA			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G|T	G|T	G|T	T|A	G|T	G|T	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr7:127031545_127031546GT>TA	ENST00000393313.1	-	2	653				ZNF800_ENST00000265827.3_Intron|ZNF800_ENST00000393312.1_Intron			Q2TB10	ZN800_HUMAN	zinc finger protein 800						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						ACGAAGAGGGGTCTACCTGGTT	0.475																																						.											0																																										SO:0001627	intron_variant	168850			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.62_62delinsTA	7.37:g.127031545_127031546delinsTA		Somatic		WXS	Illumina HiSeq	.	Q9HBN0	Intron	SNP	ENST00000393313.1	37	CCDS5795.1																																																																																				0.475	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1		NM_176814	
VHL	7428	hgsc.bcm.edu	37	3	10183863	10183863	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr3:10183863G>A	ENST00000256474.2	+	1	1172	c.332G>A	c.(331-333)aGc>aAc	p.S111N	VHL_ENST00000345392.2_Missense_Mutation_p.S111N|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	111	Involved in binding to CCT complex.		S -> C (in VHLD; type II).|S -> N (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|S -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		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.S111N(5)|p.S111I(2)|p.S111fs*49(1)|p.?(1)|p.I109_R113del(1)|p.S111fs*22(1)|p.S111fs*45(1)|p.H110_S111del(1)|p.S111_Y112del(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)		CGCATCCACAGCTACCGAGGT	0.692		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"""	14	Substitution - Missense(7)|Deletion - In frame(3)|Insertion - Frameshift(2)|Deletion - Frameshift(1)|Unknown(1)	kidney(14)	GRCh37	CM951280|HM971583	VHL	M							10.0	12.0	11.0					3																	10183863		1804	3758	5562	SO:0001583	missense	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.332G>A	3.37:g.10183863G>A	ENSP00000256474:p.Ser111Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342270	0.61073	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99760	-6.66;-6.66	5.17	3.37	0.38596	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.096185	0.64402	N	0.000001	D	0.98532	0.9510	L	0.36672	1.1	0.21220	N	0.999751	B;B	0.27229	0.172;0.143	B;B	0.31686	0.134;0.091	D	0.99293	1.0899	10	0.54805	T	0.06	-5.879	4.2645	0.10757	0.0854:0.1565:0.5963:0.1618	.	111;111	P40337-2;P40337	.;VHL_HUMAN	N	111;111;29	ENSP00000256474:S111N;ENSP00000344757:S111N	ENSP00000256474:S111N	S	+	2	0	VHL	10158863	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.866000	0.56040	0.580000	0.29522	0.479000	0.44913	AGC		0.692	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
BAG6	7917	broad.mit.edu	37	6	31611899	31611899	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr6:31611899C>A	ENST00000375964.6	-	12	1851	c.1538G>T	c.(1537-1539)cGg>cTg	p.R513L	BAG6_ENST00000404765.2_Missense_Mutation_p.R543L|BAG6_ENST00000375976.4_Missense_Mutation_p.R507L|BAG6_ENST00000211379.5_Missense_Mutation_p.R507L|BAG6_ENST00000470875.1_5'UTR|BAG6_ENST00000362049.6_Missense_Mutation_p.R507L|BAG6_ENST00000439687.2_Missense_Mutation_p.R507L	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	513	4 X 29 AA approximate repeats.|Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)	p.R507L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						ATGGGAAGGCCGAGCCTGTGG	0.627																																																	1	Substitution - Missense(1)	kidney(1)											43.0	49.0	47.0					6																	31611899		2203	4300	6503	SO:0001583	missense	0			M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.1538G>T	6.37:g.31611899C>A	ENSP00000365131:p.Arg513Leu	Somatic		WXS	Illumina GAIIx	Phase_I	A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.022013	0.75275	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049;ENST00000437771;ENST00000438149;ENST00000436214	T;T;T;T;T;T;T;T	0.49720	1.4;1.48;1.4;1.39;0.88;1.41;0.77;0.85	4.99	4.99	0.66335	.	0.225189	0.36555	N	0.002540	T	0.34337	0.0894	N	0.19112	0.55	0.35957	D	0.834344	B;B;P;P	0.48911	0.026;0.044;0.866;0.917	B;B;P;P	0.56343	0.004;0.016;0.719;0.796	T	0.12451	-1.0547	10	0.21540	T	0.41	.	15.2664	0.73666	0.0:1.0:0.0:0.0	.	507;507;513;507	E7EMZ4;F8VXY4;P46379;P46379-2	.;.;BAG6_HUMAN;.	L	507;513;507;543;507;507;543;101;121	ENSP00000365143:R507L;ENSP00000365131:R513L;ENSP00000211379:R507L;ENSP00000384494:R543L;ENSP00000402856:R507L;ENSP00000354875:R507L;ENSP00000397978:R543L;ENSP00000410280:R101L	ENSP00000211379:R507L	R	-	2	0	BAG6	31719878	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.626000	0.46460	2.317000	0.78254	0.550000	0.68814	CGG		0.627	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_080703	
DNAH8	1769	broad.mit.edu	37	6	38889260	38889260	+	Missense_Mutation	SNP	A	A	T	rs147713611		TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr6:38889260A>T	ENST00000359357.3	+	69	10243	c.9989A>T	c.(9988-9990)gAt>gTt	p.D3330V	DNAH8_ENST00000449981.2_Missense_Mutation_p.D3547V|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.D3294V|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3330	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D3330V(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCAAAATTTGATGCAGCAATG	0.423																																																	2	Substitution - Missense(2)	kidney(2)											69.0	65.0	67.0					6																	38889260		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9989A>T	6.37:g.38889260A>T	ENSP00000352312:p.Asp3330Val	Somatic		WXS	Illumina GAIIx	Phase_I	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	A	24.2	4.510050	0.85282	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.74947	-0.89;-0.89;-0.89	5.47	5.47	0.80525	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.86560	0.5962	M	0.90082	3.085	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.89136	0.3513	10	0.62326	D	0.03	.	15.831	0.78752	1.0:0.0:0.0:0.0	.	3330	Q96JB1	DYH8_HUMAN	V	3535;3535;3330;3294	ENSP00000333363:D3535V;ENSP00000352312:D3330V;ENSP00000402294:D3294V	ENSP00000333363:D3535V	D	+	2	0	DNAH8	38997238	1.000000	0.71417	0.667000	0.29798	0.929000	0.56500	7.451000	0.80668	2.203000	0.70933	0.482000	0.46254	GAT		0.423	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1		NM_001206927	
KRTAP4-8	728224	broad.mit.edu	37	17	39253956	39253956	+	Silent	SNP	G	G	A	rs139720993	byFrequency	TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr17:39253956G>A	ENST00000333822.4	-	1	437	c.381C>T	c.(379-381)ccC>ccT	p.P127P		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	127	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.P127P(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						tgctgcagctggggcggcagc	0.677													G|||	1899	0.379193	0.4198	0.3934	5008	,	,		14956	0.2292		0.4553	False		,,,				2504	0.3906																1	Substitution - coding silent(1)	kidney(1)											3.0	5.0	4.0					17																	39253956		591	1415	2006	SO:0001819	synonymous_variant	728224			AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.381C>T	17.37:g.39253956G>A		Somatic		WXS	Illumina GAIIx	Phase_I	A8MSH3	Silent	SNP	ENST00000333822.4	37	CCDS45674.1																																																																																				0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1		NM_031960	
LOC440040	440040	broad.mit.edu	37	11	49830092	49830092	+	RNA	SNP	G	G	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr11:49830092G>T	ENST00000527477.1	+	0	1423																											CCTTCCAGAAGTGAGTCCGTG	0.438																																																	0																																												440040																															11.37:g.49830092G>T		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000527477.1	37																																																																																					0.438	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			
FAR2P1	440905	broad.mit.edu	37	2	130785949	130785949	+	RNA	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr2:130785949C>A	ENST00000325390.3	-	0	2918					NR_026758.1																						TGGCTGATGGCATTCCAGTAC	0.488																																																	0																																												440905																															2.37:g.130785949C>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000325390.3	37																																																																																					0.488	AC018865.8-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331630.3			
AATK	9625	broad.mit.edu	37	17	79107042	79107042	+	Intron	SNP	A	A	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr17:79107042A>T	ENST00000326724.4	-	2	214				MIR1250_ENST00000408098.1_RNA|RP11-149I9.2_ENST00000570413.1_RNA|AATK_ENST00000417379.1_5'Flank	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase						brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGGGCTGGAAAATGTGGCCTT	0.617																																																	0													21.0	24.0	23.0					17																	79107042		1964	4130	6094	SO:0001627	intron_variant	100302229			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.189+1125T>A	17.37:g.79107042A>T		Somatic		WXS	Illumina GAIIx	Phase_I	O75136|Q6ZN31|Q86X28	RNA	SNP	ENST00000326724.4	37	CCDS45807.1																																																																																				0.617	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1		NM_004920	
MIR381HG	378881	broad.mit.edu	37	14	101515030	101515030	+	lincRNA	SNP	T	T	G			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr14:101515030T>G	ENST00000553692.1	+	0	28				MIR487B_ENST00000385021.1_RNA|MIR544A_ENST00000384855.1_RNA|MIR539_ENST00000365690.2_RNA|MIR381_ENST00000362150.1_RNA|MIR655_ENST00000362159.2_RNA|MIR889_ENST00000401280.1_RNA	NR_104192.1				MIR381 host gene (non-protein coding)																		aaaaagcagattctgattcag	0.423																																																	0													80.0	79.0	80.0					14																	101515030		1568	3582	5150			0			AA861571		14q32.31	2013-07-30	2010-01-22	2010-01-22	ENSG00000258861	ENSG00000258861		"""Long non-coding RNAs"""	20136	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 225"""		"""chromosome 14 open reading frame 89"""	C14orf89			Standard	NR_104192		Approved	NCRNA00225			OTTHUMG00000171633		14.37:g.101515030T>G		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000553692.1	37																																																																																					0.423	MIR381HG-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414538.1			
DROSHA	29102	broad.mit.edu	37	5	31423045	31423045	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr5:31423045C>A	ENST00000511367.2	-	28	3512	c.3268G>T	c.(3268-3270)Gag>Tag	p.E1090*	DROSHA_ENST00000442743.1_Nonsense_Mutation_p.E1053*|DROSHA_ENST00000513349.1_Nonsense_Mutation_p.E1053*|DROSHA_ENST00000344624.3_Nonsense_Mutation_p.E1090*	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1090	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.E1090*(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GTATTTGGCTCTTGTAGCTAC	0.308																																																	1	Substitution - Nonsense(1)	kidney(1)											57.0	55.0	56.0					5																	31423045		1815	4064	5879	SO:0001587	stop_gained	0			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3268G>T	5.37:g.31423045C>A	ENSP00000425979:p.Glu1090*	Somatic		WXS	Illumina GAIIx	Phase_I	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Nonsense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	43	9.857190	0.99281	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.751	20.3248	0.98698	0.0:1.0:0.0:0.0	.	.	.	.	X	1090;1090;1053;1053;1015;1046	.	ENSP00000265075:E1015X	E	-	1	0	DROSHA	31458802	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.271000	0.78506	2.818000	0.97014	0.655000	0.94253	GAG		0.308	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3		NM_013235	
SETBP1	26040	broad.mit.edu	37	18	42532845	42532845	+	Silent	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr18:42532845C>A	ENST00000282030.5	+	4	3836	c.3540C>A	c.(3538-3540)ggC>ggA	p.G1180G		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1180						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G1126G(3)|p.G1180G(3)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGCCACAGGCTTCTCCAGCC	0.522									Schinzel-Giedion syndrome																																								6	Substitution - coding silent(6)	prostate(4)|kidney(2)											60.0	68.0	65.0					18																	42532845		2203	4300	6503	SO:0001819	synonymous_variant	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3540C>A	18.37:g.42532845C>A		Somatic		WXS	Illumina GAIIx	Phase_I	A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	37	CCDS11923.2																																																																																				0.522	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4		NM_001130110	
SLC38A8	146167	broad.mit.edu	37	16	84063144	84063144	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr16:84063144C>A	ENST00000299709.3	-	5	644	c.645G>T	c.(643-645)tgG>tgT	p.W215C		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	215					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.W215C(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACACAGAGGTCCAGGAGGCAG	0.502																																																	1	Substitution - Missense(1)	kidney(1)											90.0	88.0	89.0					16																	84063144		2200	4300	6500	SO:0001583	missense	146167				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.645G>T	16.37:g.84063144C>A	ENSP00000299709:p.Trp215Cys	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000299709.3	37	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177571	0.78564	.	.	ENSG00000166558	ENST00000299709	T	0.02216	4.39	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.14743	0.0356	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00768	-1.1574	10	0.38643	T	0.18	.	18.8146	0.92072	0.0:1.0:0.0:0.0	.	215	A6NNN8	S38A8_HUMAN	C	215	ENSP00000299709:W215C	ENSP00000299709:W215C	W	-	3	0	SLC38A8	82620645	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.223000	0.65283	2.621000	0.88768	0.643000	0.83706	TGG		0.502	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1		NM_001080442	
