#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	100199360	100199360	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr2:100199360G>T	ENST00000409236.2	-	15	2805	c.2693C>A	c.(2692-2694)tCt>tAt	p.S898Y	AFF3_ENST00000356421.2_Missense_Mutation_p.S923Y|AFF3_ENST00000317233.4_Missense_Mutation_p.S898Y|AFF3_ENST00000409579.1_Missense_Mutation_p.S923Y			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	898					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.S923Y(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						TCGGCTGGAAGAAGTTAAGTC	0.488																																																	1	Substitution - Missense(1)	kidney(1)											166.0	151.0	156.0					2																	100199360		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.2693C>A	2.37:g.100199360G>T	ENSP00000387207:p.Ser898Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217104	0.79352	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.83	5.83	0.93111	.	0.211114	0.34484	N	0.003926	T	0.78960	0.4366	M	0.72894	2.215	0.43787	D	0.996328	D;D	0.76494	0.991;0.999	D;D	0.73380	0.934;0.98	T	0.79191	-0.1905	10	0.59425	D	0.04	.	18.3144	0.90215	0.0:0.0:1.0:0.0	.	898;923	P51826;P51826-2	AFF3_HUMAN;.	Y	898;923;923;898	ENSP00000317421:S898Y;ENSP00000348793:S923Y;ENSP00000386834:S923Y;ENSP00000387207:S898Y	ENSP00000317421:S898Y	S	-	2	0	AFF3	99565792	1.000000	0.71417	0.837000	0.33122	0.993000	0.82548	4.746000	0.62133	2.770000	0.95276	0.655000	0.94253	TCT		0.488	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3		NM_002285	
BRPF3	27154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	36198303	36198303	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr6:36198303G>T	ENST00000357641.6	+	13	3788	c.3535G>T	c.(3535-3537)Gtg>Ttg	p.V1179L	BRPF3_ENST00000534694.1_Missense_Mutation_p.V845L|BRPF3_ENST00000339717.7_Missense_Mutation_p.V909L|BRPF3_ENST00000543502.1_Missense_Mutation_p.V909L|BRPF3_ENST00000534400.1_3'UTR|BRPF3_ENST00000443324.2_Missense_Mutation_p.V845L	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1179					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.V1179L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCGCAAGTCAGTGCAGGTGGC	0.612																																																	1	Substitution - Missense(1)	kidney(1)											93.0	76.0	82.0					6																	36198303		2203	4300	6503	SO:0001583	missense	27154			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.3535G>T	6.37:g.36198303G>T	ENSP00000350267:p.Val1179Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	G	36	5.686936	0.96784	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.80412	0.4618	M	0.74647	2.275	0.42246	D	0.991955	P;D;D	0.89917	0.945;0.998;1.0	D;D;D	0.77004	0.941;0.989;0.981	T	0.81353	-0.0971	10	0.87932	D	0	.	20.0833	0.97789	0.0:0.0:1.0:0.0	.	845;909;1179	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	L	1179;909;845;909;845	ENSP00000350267:V1179L;ENSP00000345419:V909L;ENSP00000434501:V845L;ENSP00000445352:V909L;ENSP00000387368:V845L	ENSP00000345419:V909L	V	+	1	0	BRPF3	36306281	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	9.869000	0.99810	2.756000	0.94617	0.655000	0.94253	GTG		0.612	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3		NM_015695	
C3orf70	285382	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184801263	184801263	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr3:184801263A>C	ENST00000335012.2	-	2	475	c.285T>G	c.(283-285)atT>atG	p.I95M		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	95								p.I95M(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CTGAGATCTGAATGGTGTTTG	0.507																																																	1	Substitution - Missense(1)	kidney(1)											74.0	77.0	76.0					3																	184801263		2203	4300	6503	SO:0001583	missense	285382				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.285T>G	3.37:g.184801263A>C	ENSP00000334974:p.Ile95Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNY2|B9EH83	Missense_Mutation	SNP	ENST00000335012.2	37	CCDS33900.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.568842	0.45798	.	.	ENSG00000187068	ENST00000335012	.	.	.	5.79	-1.9	0.07665	.	0.191162	0.53938	N	0.000041	T	0.25754	0.0627	N	0.11560	0.145	0.47994	D	0.99956	B	0.33940	0.433	B	0.31686	0.134	T	0.02320	-1.1177	9	0.45353	T	0.12	.	7.689	0.28557	0.4227:0.1258:0.4515:0.0	.	95	A6NLC5	CC070_HUMAN	M	95	.	ENSP00000334974:I95M	I	-	3	3	C3orf70	186283957	0.120000	0.22244	0.997000	0.53966	0.993000	0.82548	-0.489000	0.06490	-0.096000	0.12329	-0.250000	0.11733	ATT		0.507	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1		NM_001025266	
C8orf44	56260	broad.mit.edu	37	8	67590120	67590120	+	Silent	SNP	C	C	A	rs546189778		TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr8:67590120C>A	ENST00000519561.1	+	2	328	c.177C>A	c.(175-177)gtC>gtA	p.V59V	C8orf44-SGK3_ENST00000520044.1_Intron|C8orf44_ENST00000390159.3_Silent_p.V59V|C8orf44-SGK3_ENST00000519289.1_Intron|C8orf44_ENST00000521889.1_Silent_p.V59V	NM_019607.2	NP_062553.1	Q96CB5	CH044_HUMAN	chromosome 8 open reading frame 44	59						nucleus (GO:0005634)		p.V59V(1)		endometrium(1)|kidney(1)|lung(2)	4	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			cacctgaggtcaggagttcga	0.537																																																	1	Substitution - coding silent(1)	kidney(1)											21.0	21.0	21.0					8																	67590120		2203	4291	6494	SO:0001819	synonymous_variant	56260			AK002129	CCDS6193.1	8q13.1	2012-05-16		2005-08-09	ENSG00000213865	ENSG00000213865			25646	protein-coding gene	gene with protein product						12477932	Standard	NM_019607		Approved	FLJ11267	uc003xwo.2	Q96CB5	OTTHUMG00000164562	ENST00000519561.1:c.177C>A	8.37:g.67590120C>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q9NUM6	Silent	SNP	ENST00000519561.1	37	CCDS6193.1																																																																																				0.537	C8orf44-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379242.2		NM_019607	
CCDC148	130940	broad.mit.edu;ucsc.edu	37	2	159312934	159312934	+	Silent	SNP	A	A	T			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr2:159312934A>T	ENST00000283233.5	-	1	331	c.18T>A	c.(16-18)gcT>gcA	p.A6A	PKP4_ENST00000389759.3_5'Flank|PKP4_ENST00000389757.3_5'Flank|CCDC148_ENST00000491563.1_5'UTR|CCDC148_ENST00000536771.1_5'UTR|CCDC148_ENST00000409889.1_Silent_p.A6A	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	6								p.A6A(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CACCTGGAGAAGCAGAAGCTG	0.552																																																	1	Substitution - coding silent(1)	kidney(1)											140.0	102.0	115.0					2																	159312934		2203	4300	6503	SO:0001819	synonymous_variant	130940				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.18T>A	2.37:g.159312934A>T		Somatic		WXS	Illumina GAIIx	Phase_I	F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Silent	SNP	ENST00000283233.5	37	CCDS33304.1																																																																																				0.552	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1		NM_138803	
CCDC22	28952	broad.mit.edu;hgsc.bcm.edu	37	X	49105114	49105114	+	Silent	SNP	G	G	A	rs138555929	byFrequency	TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chrX:49105114G>A	ENST00000376227.3	+	12	1520	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	450								p.L450L(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CTCGACGGCTGGCAGAGATCC	0.617													G|||	1	0.000264901	0.0	0.0	3775	,	,		10140	0.0		0.001	False		,,,				2504	0.0																2	Substitution - coding silent(2)	kidney(2)						G		0,3829		0,0,1631,567	27.0	28.0	27.0		1350	2.6	1.0	X	dbSNP_134	27	2,6720		0,2,2426,1866	no	coding-synonymous	CCDC22	NM_014008.3		0,2,4057,2433	AA,AG,GG,G		0.0298,0.0,0.019		450/628	49105114	2,10549	2198	4294	6492	SO:0001819	synonymous_variant	28952			BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.1350G>A	X.37:g.49105114G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K7G1	Silent	SNP	ENST00000376227.3	37	CCDS14322.1																																																																																				0.617	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1		NM_014008	
CCDC88C	440193	broad.mit.edu;hgsc.bcm.edu	37	14	91755525	91755525	+	Silent	SNP	G	G	A			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr14:91755525G>A	ENST00000389857.6	-	25	4451	c.4365C>T	c.(4363-4365)gcC>gcT	p.A1455A		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1455					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)	p.A1455A(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CGGGGTTCTCGGCCTGTGATC	0.682																																																	2	Substitution - coding silent(2)	kidney(2)											62.0	68.0	66.0					14																	91755525		1878	4102	5980	SO:0001819	synonymous_variant	440193				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4365C>T	14.37:g.91755525G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	CCDS45151.1																																																																																				0.682	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1		XM_029353	
CXorf66	347487	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	139040297	139040297	+	Silent	SNP	G	G	A			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chrX:139040297G>A	ENST00000370540.1	-	2	191	c.168C>T	c.(166-168)atC>atT	p.I56I		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	56						integral component of membrane (GO:0016021)		p.I56I(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						CAAAAACCATGATGATAATAC	0.318																																																	1	Substitution - coding silent(1)	kidney(1)											201.0	194.0	196.0					X																	139040297		2203	4300	6503	SO:0001819	synonymous_variant	347487				CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.168C>T	X.37:g.139040297G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000370540.1	37	CCDS35411.1																																																																																				0.318	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1		NM_001013403	
GGA2	23062	hgsc.bcm.edu;ucsc.edu	37	16	23481417	23481417	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr16:23481417delC	ENST00000309859.4	-	15	1602	c.1520delG	c.(1519-1521)ggafs	p.G507fs	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	507	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		CCCAGGGGCTCCCGTCTGGGA	0.547																																																	0													73.0	74.0	73.0					16																	23481417		2197	4300	6497	SO:0001589	frameshift_variant	23062			AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1520delG	16.37:g.23481417delC	ENSP00000311962:p.Gly507fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DWF0|O14564|Q9NYN2|Q9UPS2	Frame_Shift_Del	DEL	ENST00000309859.4	37	CCDS10611.1																																																																																				0.547	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			
HEATR5B	54497	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	37255866	37255866	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr2:37255866G>A	ENST00000233099.5	-	23	3654	c.3559C>T	c.(3559-3561)Cat>Tat	p.H1187Y	HEATR5B_ENST00000354531.2_Missense_Mutation_p.H1187Y	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1187						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.H1187Y(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATTAGCCAATGAGAAAGTTTT	0.358																																																	1	Substitution - Missense(1)	kidney(1)											76.0	77.0	77.0					2																	37255866		2203	4300	6503	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3559C>T	2.37:g.37255866G>A	ENSP00000233099:p.His1187Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580771	0.28180	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.51071	0.72;0.72	4.68	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	L	0.41961	1.31	0.80722	D	1	B	0.28208	0.203	B	0.22386	0.039	T	0.31081	-0.9956	10	0.02654	T	1	-12.4847	17.6029	0.88030	0.0:0.0:1.0:0.0	.	1187	Q9P2D3	HTR5B_HUMAN	Y	1187	ENSP00000233099:H1187Y;ENSP00000346531:H1187Y	ENSP00000233099:H1187Y	H	-	1	0	HEATR5B	37109370	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	9.869000	0.99810	2.143000	0.66587	0.655000	0.94253	CAT		0.358	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1		NM_019024	
HOXB1	3211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	46607033	46607033	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr17:46607033C>T	ENST00000239174.6	-	2	874	c.782G>A	c.(781-783)cGc>cAc	p.R261H	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	261					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)	p.R261H(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTCTCGCTCGCGCTTCTTCTG	0.632																																																	1	Substitution - Missense(1)	kidney(1)											124.0	128.0	126.0					17																	46607033		2203	4300	6503	SO:0001583	missense	3211				CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.782G>A	17.37:g.46607033C>T	ENSP00000355140:p.Arg261His	Somatic		WXS	Illumina HiSeq	Phase_I	Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018452	0.93404	.	.	ENSG00000120094	ENST00000239174	D	0.95853	-3.83	5.3	4.32	0.51571	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.135771	0.34411	N	0.003996	D	0.95564	0.8558	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.63957	0.92	D	0.96238	0.9173	10	0.87932	D	0	.	15.13	0.72514	0.1424:0.8576:0.0:0.0	.	261	P14653	HXB1_HUMAN	H	261	ENSP00000355140:R261H	ENSP00000355140:R261H	R	-	2	0	HOXB1	43962032	1.000000	0.71417	0.950000	0.38849	0.982000	0.71751	7.629000	0.83207	1.462000	0.47948	0.655000	0.94253	CGC		0.632	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			
IL17RE	132014	broad.mit.edu	37	3	9957050	9957050	+	Silent	SNP	C	C	T			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr3:9957050C>T	ENST00000383814.3	+	16	1668	c.1563C>T	c.(1561-1563)gaC>gaT	p.D521D	IL17RE_ENST00000421412.1_Silent_p.D554D|IL17RE_ENST00000454190.2_3'UTR|IL17RC_ENST00000413608.1_5'Flank|IL17RC_ENST00000383812.4_5'Flank|IL17RC_ENST00000416074.2_5'Flank|IL17RC_ENST00000455057.1_5'Flank|IL17RE_ENST00000295980.3_Silent_p.D521D|IL17RC_ENST00000295981.3_5'Flank|IL17RC_ENST00000403601.3_5'Flank	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	521	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D521D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GCGGGCGCGACGTGATCGTGG	0.771																																																	1	Substitution - coding silent(1)	kidney(1)											3.0	3.0	3.0					3																	9957050		1631	3324	4955	SO:0001819	synonymous_variant	132014			AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.1563C>T	3.37:g.9957050C>T		Somatic		WXS	Illumina GAIIx	Phase_I	B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Silent	SNP	ENST00000383814.3	37	CCDS2589.1																																																																																				0.771	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1		NM_153480	
KRT2	3849	broad.mit.edu;ucsc.edu	37	12	53045802	53045802	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr12:53045802C>T	ENST00000309680.3	-	1	146	c.125G>A	c.(124-126)tGc>tAc	p.C42Y		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	42	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.C42Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GCGGCTCAAGCAGGAGAAGCT	0.612																																																	1	Substitution - Missense(1)	kidney(1)											37.0	41.0	40.0					12																	53045802		2203	4300	6503	SO:0001583	missense	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.125G>A	12.37:g.53045802C>T	ENSP00000310861:p.Cys42Tyr	Somatic		WXS	Illumina GAIIx	Phase_I	Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132671	0.37630	.	.	ENSG00000172867	ENST00000309680	D	0.85556	-2.0	4.87	4.87	0.63330	.	.	.	.	.	T	0.76941	0.4058	L	0.45698	1.435	0.35909	D	0.830947	P	0.41910	0.764	B	0.37144	0.242	T	0.77970	-0.2387	9	0.02654	T	1	.	14.4425	0.67327	0.0:0.808:0.192:0.0	.	42	P35908	K22E_HUMAN	Y	42	ENSP00000310861:C42Y	ENSP00000310861:C42Y	C	-	2	0	KRT2	51332069	0.230000	0.23740	0.998000	0.56505	0.982000	0.71751	1.337000	0.33862	2.417000	0.82017	0.462000	0.41574	TGC		0.612	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1		NM_000423	
LBP	3929	hgsc.bcm.edu	37	20	36982823	36982823	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr20:36982823A>G	ENST00000217407.2	+	4	669	c.508A>G	c.(508-510)Atg>Gtg	p.M170V		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	170					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)	p.M170V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GGAGGTGGACATGTCGGGAGA	0.622																																																	1	Substitution - Missense(1)	kidney(1)											48.0	41.0	44.0					20																	36982823		2203	4300	6503	SO:0001583	missense	3929				CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.508A>G	20.37:g.36982823A>G	ENSP00000217407:p.Met170Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	A	0.157	-1.085687	0.01873	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.04758	3.56	4.77	-8.28	0.01013	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	1.234660	0.05532	N	0.564182	T	0.01800	0.0057	N	0.02830	-0.485	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.48175	-0.9058	10	0.20046	T	0.44	0.846	7.4981	0.27500	0.3519:0.2242:0.4239:0.0	.	170	P18428	LBP_HUMAN	V	170	ENSP00000217407:M170V	ENSP00000217407:M170V	M	+	1	0	LBP	36416237	0.000000	0.05858	0.000000	0.03702	0.179000	0.23085	-1.811000	0.01728	-1.837000	0.01189	0.459000	0.35465	ATG		0.622	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2		NM_004139	
MAP3K11	4296	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65375920	65375920	+	Splice_Site	SNP	C	C	A			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr11:65375920C>A	ENST00000530153.1	-	2	490		c.e2-1		MAP3K11_ENST00000532507.1_5'Flank|MAP3K11_ENST00000309100.3_Splice_Site|MAP3K11_ENST00000534432.1_5'Flank					mitogen-activated protein kinase kinase kinase 11									p.?(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						AGCAGCAAAACTAGAGAAGAG	0.557																																																	1	Unknown(1)	kidney(1)											56.0	48.0	51.0					11																	65375920		2201	4297	6498	SO:0001630	splice_region_variant	4296				CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.32-1G>T	11.37:g.65375920C>A		Somatic		WXS	Illumina HiSeq	Phase_I		Splice_Site	SNP	ENST00000530153.1	37		.	.	.	.	.	.	.	.	.	.	C	16.31	3.087903	0.55968	.	.	ENSG00000173327	ENST00000309100	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2904	0.73862	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP3K11	65132496	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.401000	0.79962	2.478000	0.83669	0.561000	0.74099	.		0.557	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000390233.2			Intron
NOTCH1	4851	broad.mit.edu	37	9	139400096	139400096	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr9:139400096C>T	ENST00000277541.6	-	25	4327	c.4252G>A	c.(4252-4254)Gcc>Acc	p.A1418T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1418	EGF-like 36. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|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 of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A1418T(1)|p.A1419T(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTGAATTTGGCGGGGCACAGG	0.682			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	2	Substitution - Missense(2)	kidney(2)											20.0	26.0	24.0					9																	139400096		1934	4118	6052	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4252G>A	9.37:g.139400096C>T	ENSP00000277541:p.Ala1418Thr	Somatic		WXS	Illumina GAIIx	Phase_I	Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.408094	0.25378	.	.	ENSG00000148400	ENST00000277541	T	0.55413	0.52	4.55	0.86	0.19042	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.273852	0.36134	U	0.002764	T	0.29256	0.0728	N	0.12443	0.215	0.32801	D	0.500154	B	0.17465	0.022	B	0.15870	0.014	T	0.22661	-1.0210	10	0.22706	T	0.39	.	9.7123	0.40254	0.0:0.3898:0.5284:0.0818	.	1418	P46531	NOTC1_HUMAN	T	1418	ENSP00000277541:A1418T	ENSP00000277541:A1418T	A	-	1	0	NOTCH1	138519917	0.043000	0.20138	0.976000	0.42696	0.948000	0.59901	0.246000	0.18160	-0.064000	0.13043	0.643000	0.83706	GCC		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1		NM_017617	
POLR2C	5432	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	57503112	57503112	+	Silent	SNP	G	G	A	rs371938475		TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr16:57503112G>A	ENST00000219252.5	+	5	632	c.294G>A	c.(292-294)tcG>tcA	p.S98S	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	98					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.S98S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						CCGAGTGCTCGGTGGAGTTCA	0.577																																																	1	Substitution - coding silent(1)	kidney(1)						G		0,4396		0,0,2198	145.0	121.0	129.0		294	-11.1	0.3	16		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	POLR2C	NM_032940.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		98/276	57503112	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	5432				CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"""RNA polymerase subunits"""	9189	protein-coding gene	gene with protein product	"""RNA polymerase II subunit 3"""	180663	"""polymerase (RNA) II (DNA directed) polypeptide C (33kD)"""			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.294G>A	16.37:g.57503112G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O15161	Silent	SNP	ENST00000219252.5	37	CCDS10782.1																																																																																				0.577	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257340.3		NM_032940	
RGS6	9628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	72925078	72925078	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr14:72925078G>A	ENST00000553530.1	+	5	542	c.335G>A	c.(334-336)cGt>cAt	p.R112H	RGS6_ENST00000355512.6_Missense_Mutation_p.R112H|RGS6_ENST00000555571.1_Missense_Mutation_p.R112H|RGS6_ENST00000554782.1_5'Flank|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000406236.4_Missense_Mutation_p.R112H|RGS6_ENST00000407322.4_Missense_Mutation_p.R112H|RGS6_ENST00000556437.1_Missense_Mutation_p.R112H|RGS6_ENST00000402788.2_Missense_Mutation_p.R112H|RGS6_ENST00000434263.2_Missense_Mutation_p.R43H|RGS6_ENST00000404301.2_Missense_Mutation_p.R112H|RGS6_ENST00000343854.6_Missense_Mutation_p.R112H|RGS6_ENST00000553525.1_Missense_Mutation_p.R112H	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	112	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.R112H(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ACCTTTTATCGTTTCCAGGTA	0.458																																					Ovarian(143;1926 2468 21071 48641)												1	Substitution - Missense(1)	kidney(1)											144.0	103.0	117.0					14																	72925078		2203	4300	6503	SO:0001583	missense	9628			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.335G>A	14.37:g.72925078G>A	ENSP00000452331:p.Arg112His	Somatic		WXS	Illumina HiSeq	Phase_I	C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	G	35	5.583646	0.96578	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263	T;T;T;T;T;T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67	6.02	6.02	0.97574	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.66479	0.2793	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71447	-0.4590	10	0.87932	D	0	0.2708	20.5407	0.99260	0.0:0.0:1.0:0.0	.	43;117;112	B7Z7N5;Q59FJ8;P49758	.;.;RGS6_HUMAN	H	112;112;112;112;112;112;112;112;112;112;84;43	ENSP00000451030:R112H;ENSP00000450936:R112H;ENSP00000452331:R112H;ENSP00000451855:R112H;ENSP00000347699:R112H;ENSP00000385243:R112H;ENSP00000384218:R112H;ENSP00000384612:R112H;ENSP00000383953:R112H;ENSP00000341199:R112H;ENSP00000412144:R43H	ENSP00000341199:R112H	R	+	2	0	RGS6	71994831	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	9.797000	0.99108	2.865000	0.98341	0.655000	0.94253	CGT		0.458	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			
RNF10	9921	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	121004766	121004766	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr12:121004766G>C	ENST00000325954.4	+	13	2485	c.2024G>C	c.(2023-2025)aGt>aCt	p.S675T	RNF10_ENST00000413266.2_Missense_Mutation_p.S680T	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	675					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S675T(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCAGCAGAAGTCCAGGTTCC	0.498																																																	1	Substitution - Missense(1)	kidney(1)											65.0	65.0	65.0					12																	121004766		2203	4300	6503	SO:0001583	missense	9921			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.2024G>C	12.37:g.121004766G>C	ENSP00000322242:p.Ser675Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815570	0.90790	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266	D;D	0.90133	-2.62;-2.62	5.87	5.87	0.94306	.	0.079450	0.85682	D	0.000000	D	0.93890	0.8045	L	0.49350	1.555	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.75020	0.942;0.985	D	0.91916	0.5543	10	0.32370	T	0.25	.	20.2169	0.98300	0.0:0.0:1.0:0.0	.	680;675	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	T	675;675;680	ENSP00000322242:S675T;ENSP00000415682:S680T	ENSP00000322242:S675T	S	+	2	0	RNF10	119489149	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.047000	0.64232	2.774000	0.95407	0.643000	0.83706	AGT		0.498	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			
SLC28A2	9153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45559673	45559673	+	Silent	SNP	C	C	A			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr15:45559673C>A	ENST00000347644.3	+	11	1028	c.963C>A	c.(961-963)atC>atA	p.I321I	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	321					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)	p.I321I(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	CTCTGCTCATCCGTCCCTACC	0.557																																					NSCLC(92;493 1501 26361 28917 47116)												1	Substitution - coding silent(1)	kidney(1)											181.0	169.0	173.0					15																	45559673		2198	4298	6496	SO:0001819	synonymous_variant	9153			U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.963C>A	15.37:g.45559673C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K7F9|O43239|Q52LZ0	Silent	SNP	ENST00000347644.3	37	CCDS10121.1																																																																																				0.557	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2		NM_004212	
SRL	6345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4247843	4247843	+	Silent	SNP	G	G	A			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr16:4247843G>A	ENST00000399609.3	-	4	345	c.333C>T	c.(331-333)aaC>aaT	p.N111N	SRL_ENST00000537996.1_Silent_p.N69N	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	570	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.N111N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						CAAGGAGGTAGTTTATCATGG	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											112.0	105.0	107.0					16																	4247843		1880	4106	5986	SO:0001819	synonymous_variant	6345			AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.333C>T	16.37:g.4247843G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000399609.3	37	CCDS42113.1																																																																																				0.428	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1		XM_064152	
TMEM132E	124842	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	32953491	32953491	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr17:32953491C>T	ENST00000321639.5	+	2	741	c.413C>T	c.(412-414)tCg>tTg	p.S138L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	138						integral component of membrane (GO:0016021)		p.S138L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTGCCCGCCTCGCAGCCCGTG	0.701																																																	1	Substitution - Missense(1)	kidney(1)											20.0	22.0	21.0					17																	32953491		2201	4293	6494	SO:0001583	missense	124842			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.413C>T	17.37:g.32953491C>T	ENSP00000316532:p.Ser138Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	c	16.78	3.217163	0.58560	.	.	ENSG00000181291	ENST00000321639	T	0.43688	0.94	5.17	5.17	0.71159	.	0.245363	0.37906	N	0.001899	T	0.35856	0.0946	M	0.62723	1.935	0.24406	N	0.994687	P	0.46327	0.876	B	0.34652	0.187	T	0.51044	-0.8755	10	0.66056	D	0.02	-14.8854	10.6378	0.45575	0.1468:0.7113:0.1419:0.0	.	138	Q6IEE7	T132E_HUMAN	L	138	ENSP00000316532:S138L	ENSP00000316532:S138L	S	+	2	0	TMEM132E	29977604	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	0.791000	0.26915	2.403000	0.81681	0.543000	0.68304	TCG		0.701	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2		NM_207313	
TBCD	6904	broad.mit.edu	37	17	80863900	80863900	+	Silent	SNP	C	C	A			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr17:80863900C>A	ENST00000355528.4	+	20	2023	c.1893C>A	c.(1891-1893)gcC>gcA	p.A631A	TBCD_ENST00000539345.2_Silent_p.A631A|TBCD_ENST00000397466.2_Silent_p.A245A	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	631					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.A631A(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TTGCTTACGCCTTGTACAAAC	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											68.0	69.0	69.0					17																	80863900		2063	4202	6265	SO:0001819	synonymous_variant	6904			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1893C>A	17.37:g.80863900C>A		Somatic		WXS	Illumina GAIIx	Phase_I	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	ENST00000355528.4	37	CCDS45818.1																																																																																				0.542	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1		NM_005993	
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10191642	10191643	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr3:10191642_10191643delGA	ENST00000256474.2	+	3	1475_1476	c.635_636delGA	c.(634-636)ggafs	p.G212fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Del_p.G171fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	212					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.D213fs*8(1)|p.D213fs*>2(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)		CAACGGATGGGAGATTGAAGAT	0.465		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"""	2	Insertion - Frameshift(2)	kidney(2)																																								SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.635_636delGA	3.37:g.10191644_10191645delGA	ENSP00000256474:p.Gly212fs	Somatic		WXS	Illumina GAIIx	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.465	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VN1R2	317701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53762110	53762110	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr19:53762110G>A	ENST00000341702.3	+	1	566	c.482G>A	c.(481-483)gGa>gAa	p.G161E		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	161					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.G161E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AATTATTTTGGATGCAAATTT	0.458																																																	1	Substitution - Missense(1)	kidney(1)											52.0	54.0	54.0					19																	53762110		2203	4300	6503	SO:0001583	missense	317701			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.482G>A	19.37:g.53762110G>A	ENSP00000351244:p.Gly161Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	9.223	1.033778	0.19590	.	.	ENSG00000196131	ENST00000341702	T	0.09163	3.01	2.93	0.728	0.18260	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.20536	0.0494	M	0.64630	1.985	0.09310	N	1	D	0.54601	0.967	P	0.58391	0.838	T	0.08166	-1.0735	9	0.51188	T	0.08	.	6.0541	0.19802	0.1178:0.1946:0.6876:0.0	.	161	Q8NFZ6	VN1R2_HUMAN	E	161	ENSP00000351244:G161E	ENSP00000351244:G161E	G	+	2	0	VN1R2	58453922	0.008000	0.16893	0.009000	0.14445	0.147000	0.21601	-0.364000	0.07583	0.299000	0.22661	0.590000	0.80494	GGA		0.458	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1		NM_173856	
VN1R2	317701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53762116	53762116	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr19:53762116A>T	ENST00000341702.3	+	1	572	c.488A>T	c.(487-489)aAa>aTa	p.K163I		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	163					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.K163I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TTTGGATGCAAATTTCTTTTG	0.453																																																	1	Substitution - Missense(1)	kidney(1)											50.0	52.0	51.0					19																	53762116		2203	4299	6502	SO:0001583	missense	317701			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.488A>T	19.37:g.53762116A>T	ENSP00000351244:p.Lys163Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	A	9.320	1.057745	0.19907	.	.	ENSG00000196131	ENST00000341702	T	0.12147	2.71	2.94	-0.746	0.11095	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.34803	0.0910	M	0.90542	3.125	0.09310	N	1	D	0.65815	0.995	D	0.64595	0.927	T	0.12091	-1.0561	9	0.72032	D	0.01	.	4.3757	0.11269	0.4896:0.1735:0.0:0.3368	.	163	Q8NFZ6	VN1R2_HUMAN	I	163	ENSP00000351244:K163I	ENSP00000351244:K163I	K	+	2	0	VN1R2	58453928	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	-0.208000	0.09371	-0.234000	0.09782	-0.459000	0.05422	AAA		0.453	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1		NM_173856	
VPS35	55737	broad.mit.edu;hgsc.bcm.edu	37	16	46717480	46717480	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr16:46717480C>G	ENST00000299138.7	-	2	100	c.42G>C	c.(40-42)aaG>aaC	p.K14N		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	14					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)		p.K14N(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CATCCAAGAGCTTTTCCTGCT	0.448																																																	1	Substitution - Missense(1)	kidney(1)											84.0	67.0	73.0					16																	46717480		2203	4297	6500	SO:0001583	missense	55737			AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.42G>C	16.37:g.46717480C>G	ENSP00000299138:p.Lys14Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319440	0.41096	.	.	ENSG00000069329	ENST00000299138	T	0.50548	0.74	5.24	1.08	0.20341	.	0.106561	0.64402	D	0.000004	T	0.61261	0.2333	M	0.84433	2.695	0.58432	D	0.999999	P	0.48294	0.908	P	0.55222	0.771	T	0.62343	-0.6874	10	0.87932	D	0	-26.0005	8.5509	0.33451	0.0:0.5747:0.0:0.4253	.	14	Q96QK1	VPS35_HUMAN	N	14	ENSP00000299138:K14N	ENSP00000299138:K14N	K	-	3	2	VPS35	45274981	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	0.883000	0.28200	0.042000	0.15717	-0.262000	0.10625	AAG		0.448	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			
DDX11L1	100287102	broad.mit.edu	37	1	14976	14976	+	RNA	SNP	G	G	A	rs71252251	byFrequency	TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr1:14976G>A	ENST00000456328.2	+	0	1657					NR_046018.2|NR_051986.1				DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1																		CTACCCTTGCGCCTCATGACC	0.582																																																	0																																												653635			AM992871		1p36.33	2012-02-23	2012-02-23		ENSG00000223972	ENSG00000223972			37102	pseudogene	pseudogene			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 1"""			19476624	Standard	NR_046018		Approved		uc010nxq.1		OTTHUMG00000000961		1.37:g.14976G>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000456328.2	37																																																																																					0.582	DDX11L1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000362751.1			
WEE1	7465	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	9610146	9610146	+	Silent	SNP	C	C	T			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr11:9610146C>T	ENST00000450114.2	+	11	2191	c.1938C>T	c.(1936-1938)taC>taT	p.Y646Y	WEE1_ENST00000299613.6_Silent_p.Y432Y	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	646					blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.Y646Y(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TTACTATATACTGAGCTACTC	0.453																																																	1	Substitution - coding silent(1)	kidney(1)											132.0	131.0	131.0					11																	9610146		2201	4294	6495	SO:0001819	synonymous_variant	7465			X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1938C>T	11.37:g.9610146C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KVE1|D3DQV0	Silent	SNP	ENST00000450114.2	37	CCDS7800.1																																																																																				0.453	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1		NM_003390	
ZNF772	400720	hgsc.bcm.edu	37	19	57988666	57988667	+	In_Frame_Ins	INS	-	-	GCC	rs77164240|rs528587884|rs34678661|rs193920834	byFrequency	TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr19:57988666_57988667insGCC	ENST00000343280.4	-	1	271_272	c.11_12insGGC	c.(10-12)gct>gcGGCt	p.4_4A>AA	AC004076.9_ENST00000596831.1_In_Frame_Ins_p.4_4A>AA|AC003005.2_ENST00000595422.1_lincRNA|ZNF772_ENST00000601768.1_In_Frame_Ins_p.4_4A>AA|ZNF772_ENST00000356584.3_In_Frame_Ins_p.4_4A>AA|ZNF772_ENST00000425074.3_In_Frame_Ins_p.4_4A>AA|AC004076.9_ENST00000415705.3_5'UTR|ZNF772_ENST00000427512.2_5'UTR|ZNF772_ENST00000600175.1_In_Frame_Ins_p.4_4A>AA	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	4					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(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		CCATCGGCTCAGCCGCCGCCAT	0.644											OREG0025695	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		2037	0.406749	0.3124	0.4481	5008	,	,		16965	0.5823		0.2753	False		,,,				2504	0.4591				Melanoma(5;289 436 14293 15924 30817)												0									,	1273,2975		195,883,1046					,	-4.0	0.0		dbSNP_126	62	2294,5946		320,1654,2146	no	coding,coding	ZNF772	NM_001144068.1,NM_001024596.2	,	515,2537,3192	A1A1,A1R,RR		27.8398,29.967,28.5634	,	,		3567,8921				SO:0001652	inframe_insertion	400720			BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.9_11dupGGC	19.37:g.57988673_57988675dupGCC	ENSP00000341165:p.Ala4dup	Somatic	1027	WXS	Illumina HiSeq	Phase_I	A6NJK9|B4DH56|B4DYS0	In_Frame_Ins	INS	ENST00000343280.4	37	CCDS33133.1																																																																																				0.644	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1		NM_001024596	
