#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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_refseq_mrna_id	i_secondary_variant_classification
CEP104	9731	broad.mit.edu	37	1	3756341	3756341	+	Splice_Site	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:3756341C>T	ENST00000378230.3	-	7	891		c.e7-1		CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa							centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GTCAGATTTCCTAAAGGGAAG	0.423																																						uc001aky.2																			0					0						c.e7-1		glycine-, glutamate-,							102.0	100.0	101.0					1																	3756341		2203	4300	6503	SO:0001630	splice_region_variant	9731					centriole	binding	g.chr1:3756341C>T	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.567-1G>A	1.37:g.3756341C>T						KIAA0562_uc010nzm.1_Splice_Site|KIAA0562_uc001akz.2_Splice_Site_p.R189_splice	p.R189_splice	NM_014704	NP_055519	O60308	CE104_HUMAN		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)	7	926	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)						Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Splice_Site	SNP	ENST00000378230.3	37	c.567_splice	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.694320	0.30052	.	.	ENSG00000116198	ENST00000378230;ENST00000428079	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.145	0.86764	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CEP104	3746201	1.000000	0.71417	0.575000	0.28536	0.414000	0.31173	6.552000	0.73914	2.286000	0.76751	0.313000	0.20887	.		0.423	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704	Intron
MST1L	11223	broad.mit.edu	37	1	17085791	17085791	+	RNA	SNP	G	G	A	rs2297532		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:17085791G>A	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										TCTGTACAACGCCGGATCTGG	0.692																																						uc010ock.1																			0					0						c.(1030-1032)CGT>TGT		SubName: Full=Hepatocyte growth factor-like protein homolog;																																						11223							g.chr1:17085791G>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085791G>A						CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'UTR	p.R344C	NR_002729						8	1030	-								B7WPB1|Q13209	Missense_Mutation	SNP	ENST00000455405.2	37	c.1030C>T		124	0.056776556776556776	29	0.05894308943089431	16	0.04419889502762431	48	0.08391608391608392	31	0.040897097625329816	.	15.12	2.737865	0.49045	.	.	ENSG00000186715	ENST00000389184;ENST00000334998;ENST00000442552	.	.	.	.	.	.	.	0.000000	0.42548	D	0.000696	T	0.09069	0.0224	.	.	.	.	.	.	D	0.89917	1.0	D	0.78314	0.991	T	0.53136	-0.8481	6	0.87932	D	0	.	5.8178	0.18506	0.001:0.0:0.999:0.0	rs2297532;rs3981961;rs3982167;rs9701622;rs57280630	344	Q2TV78-2	.	C	334;344;344	.	ENSP00000439273:R344C	R	-	1	0	MST1P9	16958378	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	6.473000	0.73572	-0.000000	0.14550	0.000000	0.15137	CGT		0.692	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733	
LRRC40	55631	broad.mit.edu	37	1	70611582	70611582	+	Silent	SNP	T	T	C			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:70611582T>C	ENST00000370952.3	-	15	1789	c.1710A>G	c.(1708-1710)ttA>ttG	p.L570L		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	570						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CATCCAGTAGTAATGTTCTAA	0.313																																						uc001der.1																			0				ovary(1)	1						c.(1708-1710)TTA>TTG		leucine rich repeat containing 40							63.0	61.0	62.0					1																	70611582		2203	4300	6503	SO:0001819	synonymous_variant	55631							g.chr1:70611582T>C		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1710A>G	1.37:g.70611582T>C							p.L570L	NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN			15	1762	-			570			LRR 20.		Q9BTR7|Q9NSK1|Q9NXC1	Silent	SNP	ENST00000370952.3	37	c.1710A>G	CCDS646.1																																																																																				0.313	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768	
IQGAP3	128239	broad.mit.edu	37	1	156497822	156497822	+	Silent	SNP	C	C	T	rs144640189		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:156497822C>T	ENST00000361170.2	-	37	4714	c.4704G>A	c.(4702-4704)ccG>ccA	p.P1568P	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1568					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCATCTCCCGGCGTGATGT	0.512													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22534	0.0		0.0	False		,,,				2504	0.0					uc001fpf.2																			0				ovary(5)|skin(1)	6						c.(4702-4704)CCG>CCA		IQ motif containing GTPase activating protein 3		C		1,4405	2.1+/-5.4	0,1,2202	157.0	138.0	145.0		4704	-1.5	0.9	1	dbSNP_134	145	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	IQGAP3	NM_178229.4		0,10,6493	TT,TC,CC		0.1047,0.0227,0.0769		1568/1632	156497822	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156497822C>T	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4704G>A	1.37:g.156497822C>T							p.P1568P	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			37	4779	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1568					Q5T3H8	Silent	SNP	ENST00000361170.2	37	c.4704G>A	CCDS1144.1																																																																																				0.512	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	
SELP	6403	broad.mit.edu	37	1	169562878	169562878	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:169562878A>G	ENST00000263686.6	-	14	2409	c.2372T>C	c.(2371-2373)cTc>cCc	p.L791P	SELP_ENST00000458599.2_Missense_Mutation_p.L607P|SELP_ENST00000367791.2_Missense_Mutation_p.L605P|SELP_ENST00000367793.2_Missense_Mutation_p.L729P|SELP_ENST00000367792.2_Missense_Mutation_p.L607P|SELP_ENST00000367786.2_Missense_Mutation_p.L729P|SELP_ENST00000367794.2_Missense_Mutation_p.L729P|SELP_ENST00000367788.2_Missense_Mutation_p.L729P	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	791					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	CAAAGCCAGGAGCGTCCCACC	0.413																																						uc001ggi.3																			0				ovary(2)|skin(2)	4						c.(2371-2373)CTC>CCC		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						74.0	72.0	73.0					1																	169562878		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169562878A>G	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.2372T>C	1.37:g.169562878A>G	ENSP00000263686:p.Leu791Pro					SELP_uc001ggh.2_Intron|SELP_uc009wvr.2_Missense_Mutation_p.L790P	p.L791P	NM_003005	NP_002996	P16109	LYAM3_HUMAN			14	2437	-	all_hematologic(923;0.208)		791			Helical; (Potential).		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.2372T>C	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.853158	0.71719	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T;T	0.31769	2.03;1.86;1.58;1.48;1.72;1.86;1.58	5.62	5.62	0.85841	.	0.122427	0.37261	N	0.002163	T	0.43700	0.1259	M	0.67953	2.075	0.44976	D	0.997992	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.48186	-0.9057	10	0.87932	D	0	-22.7444	12.2176	0.54414	1.0:0.0:0.0:0.0	.	790;791	Q6NUL9;P16109	.;LYAM3_HUMAN	P	605;791;790;607;791;729;729;607;605;729;729;714	ENSP00000263686:L791P;ENSP00000356767:L729P;ENSP00000356768:L729P;ENSP00000356766:L607P;ENSP00000356765:L605P;ENSP00000356762:L729P;ENSP00000356760:L729P	ENSP00000263686:L791P	L	-	2	0	SELP	167829502	1.000000	0.71417	0.994000	0.49952	0.925000	0.55904	4.397000	0.59690	2.133000	0.65898	0.528000	0.53228	CTC		0.413	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005	
CRB1	23418	broad.mit.edu	37	1	197407699	197407699	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:197407699G>A	ENST00000367400.3	+	10	3907	c.3772G>A	c.(3772-3774)Gtc>Atc	p.V1258I	CRB1_ENST00000367399.2_Missense_Mutation_p.V1146I|CRB1_ENST00000544212.1_Missense_Mutation_p.V739I|CRB1_ENST00000538660.1_Missense_Mutation_p.V722I|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367397.1_Missense_Mutation_p.V639I|CRB1_ENST00000535699.1_Missense_Mutation_p.V1234I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1258	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACCCTCAACAGTCTGTGGGAA	0.413																																						uc001gtz.2																			0				ovary(5)|skin(3)|large_intestine(1)	9						c.(3772-3774)GTC>ATC		crumbs homolog 1 precursor							95.0	90.0	92.0					1																	197407699		2203	4299	6502	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197407699G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3772G>A	1.37:g.197407699G>A	ENSP00000356370:p.Val1258Ile					CRB1_uc010poz.1_Missense_Mutation_p.V1234I|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.V1146I|CRB1_uc010ppb.1_Missense_Mutation_p.V722I|CRB1_uc010ppd.1_Missense_Mutation_p.V739I|CRB1_uc001gub.1_Missense_Mutation_p.V907I	p.V1258I	NM_201253	NP_957705	P82279	CRUM1_HUMAN			10	3907	+			1258			Extracellular (Potential).|EGF-like 18.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.3772G>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264294	0.39995	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;D;T;D;D;D	0.86956	1.37;-2.11;1.37;-2.19;-2.05;-2.03	6.17	5.21	0.72293	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.81706	0.4879	L	0.42744	1.35	0.43263	D	0.995203	B;P;P;B;P	0.43352	0.162;0.804;0.571;0.25;0.561	B;B;B;B;B	0.41510	0.025;0.279;0.359;0.056;0.118	T	0.77635	-0.2514	9	0.27082	T	0.32	.	9.7646	0.40552	0.0689:0.0:0.79:0.1411	.	722;1234;1146;907;1258	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	I	1234;722;1258;1146;739;639;907	ENSP00000438786:V1234I;ENSP00000438091:V722I;ENSP00000356370:V1258I;ENSP00000356369:V1146I;ENSP00000444556:V739I;ENSP00000356367:V639I	ENSP00000356367:V639I	V	+	1	0	CRB1	195674322	0.951000	0.32395	0.912000	0.35992	0.903000	0.53119	1.592000	0.36676	2.941000	0.99782	0.655000	0.94253	GTC		0.413	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	
CACNA1S	779	broad.mit.edu	37	1	201028369	201028369	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:201028369G>A	ENST00000362061.3	-	27	3699	c.3473C>T	c.(3472-3474)aCt>aTt	p.T1158I	CACNA1S_ENST00000367338.3_Missense_Mutation_p.T1158I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1158					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAAGATGATAGTGAAGGCCAC	0.597																																						uc001gvv.2																			0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3472-3474)ACT>ATT		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						167.0	141.0	150.0					1																	201028369		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201028369G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3473C>T	1.37:g.201028369G>A	ENSP00000355192:p.Thr1158Ile						p.T1158I	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			27	3700	-			1158			IV.|Helical; Name=S2 of repeat IV; (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.3473C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482039	0.84747	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98666	-5.06;-5.06	4.47	4.47	0.54385	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99616	1.0982	10	0.87932	D	0	.	17.0792	0.86594	0.0:0.0:1.0:0.0	.	1158	Q13698	CAC1S_HUMAN	I	1158	ENSP00000355192:T1158I;ENSP00000356307:T1158I	ENSP00000355192:T1158I	T	-	2	0	CACNA1S	199294992	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.834000	0.99428	2.170000	0.68504	0.650000	0.86243	ACT		0.597	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
OBSCN	84033	broad.mit.edu	37	1	228473808	228473808	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:228473808G>A	ENST00000422127.1	+	34	9078	c.9034G>A	c.(9034-9036)Gag>Aag	p.E3012K	OBSCN_ENST00000366707.4_Missense_Mutation_p.E131K|OBSCN_ENST00000570156.2_Missense_Mutation_p.E3441K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E131K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E1859K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E3012K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3012	Ig-like 30.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGAGGACCTGGAGGATGTGGA	0.647																																						uc009xez.1																			0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(9034-9036)GAG>AAG		obscurin, cytoskeletal calmodulin and							29.0	36.0	33.0					1																	228473808		2083	4207	6290	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228473808G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9034G>A	1.37:g.228473808G>A	ENSP00000409493:p.Glu3012Lys					OBSCN_uc001hsn.2_Missense_Mutation_p.E3012K|OBSCN_uc001hsq.1_Missense_Mutation_p.E268K	p.E3012K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			34	9078	+		Prostate(94;0.0405)	3012			Ig-like 30.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.9034G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019115	0.93462	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.67	2.75	0.32379	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.218453	0.36034	N	0.002840	T	0.60418	0.2267	L	0.42529	1.33	0.34385	D	0.69351	B;D	0.59357	0.103;0.985	B;P	0.59703	0.113;0.862	T	0.63088	-0.6715	10	0.06365	T	0.9	.	8.6363	0.33950	0.138:0.1253:0.7367:0.0	.	3012;3012	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	3012;3012;131;131;1859	ENSP00000284548:E3012K;ENSP00000409493:E3012K;ENSP00000355668:E131K;ENSP00000355670:E131K;ENSP00000352613:E1859K	ENSP00000284548:E3012K	E	+	1	0	OBSCN	226540431	1.000000	0.71417	0.995000	0.50966	0.757000	0.42996	5.290000	0.65661	0.319000	0.23209	0.561000	0.74099	GAG		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
TRIM58	25893	broad.mit.edu	37	1	248028031	248028031	+	Missense_Mutation	SNP	C	C	T	rs368652011		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:248028031C>T	ENST00000366481.3	+	3	589	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	181						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGAGGCAGCGCTTCAGATT	0.592																																						uc001ido.2																			0				skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(541-543)CGC>TGC		tripartite motif-containing 58							78.0	58.0	64.0					1																	248028031		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248028031C>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.541C>T	1.37:g.248028031C>T	ENSP00000355437:p.Arg181Cys						p.R181C	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	589	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	181					Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.541C>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485560	0.44147	.	.	ENSG00000162722	ENST00000366481	T	0.04706	3.57	4.25	1.24	0.21308	.	0.622326	0.13793	N	0.362392	T	0.16642	0.0400	M	0.87381	2.88	0.21064	N	0.999799	D	0.76494	0.999	P	0.59357	0.856	T	0.06734	-1.0810	10	0.87932	D	0	.	5.1798	0.15154	0.1643:0.6499:0.0:0.1859	.	181	Q8NG06	TRI58_HUMAN	C	181	ENSP00000355437:R181C	ENSP00000355437:R181C	R	+	1	0	TRIM58	246094654	0.058000	0.20735	0.183000	0.23137	0.620000	0.37586	0.582000	0.23834	0.158000	0.19367	-0.140000	0.14226	CGC		0.592	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431	
BMI1	648	broad.mit.edu	37	10	22617609	22617609	+	Silent	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:22617609C>T	ENST00000376663.3	+	8	1057	c.552C>T	c.(550-552)gaC>gaT	p.D184D	COMMD3-BMI1_ENST00000602390.1_Silent_p.D327D	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	184	Interaction with E4F1.				chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						GTAAAATGGACATACCTAATA	0.299																																						uc001irh.2																			0				ovary(1)|skin(1)	2						c.(550-552)GAC>GAT		BMI1 polycomb ring finger oncogene							79.0	83.0	82.0					10																	22617609		2203	4291	6494	SO:0001819	synonymous_variant	648				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr10:22617609C>T	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.552C>T	10.37:g.22617609C>T						BMI1_uc009xkg.2_Silent_p.D327D	p.D184D	NM_005180	NP_005171	P35226	BMI1_HUMAN			8	1191	+			184			Interaction with E4F1.		Q16030|Q5T8Z3|Q96F37	Silent	SNP	ENST00000376663.3	37	c.552C>T	CCDS7138.1																																																																																				0.299	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180	
PTCHD3	374308	broad.mit.edu	37	10	27702648	27702648	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:27702648C>T	ENST00000438700.3	-	1	649	c.532G>A	c.(532-534)Gcc>Acc	p.A178T		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	178					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCCGCCTTGGCCGGGCTCCCC	0.632																																						uc001itu.2																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(532-534)GCC>ACC		patched domain containing 3							96.0	107.0	103.0					10																	27702648		2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702648C>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.532G>A	10.37:g.27702648C>T	ENSP00000417658:p.Ala178Thr						p.A178T	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			1	650	-			178					I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.532G>A	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991785	0.74703	.	.	ENSG00000182077	ENST00000438700	D	0.85702	-2.02	3.77	3.77	0.43336	.	0.249679	0.39407	N	0.001361	D	0.91348	0.7271	M	0.78637	2.42	0.34036	D	0.65438	D	0.71674	0.998	D	0.74348	0.983	D	0.94604	0.7798	10	0.62326	D	0.03	-23.2434	13.9502	0.64111	0.0:1.0:0.0:0.0	.	178	Q3KNS1	PTHD3_HUMAN	T	178	ENSP00000417658:A178T	ENSP00000417658:A178T	A	-	1	0	PTCHD3	27742654	0.976000	0.34144	0.231000	0.23993	0.164000	0.22412	2.401000	0.44513	1.948000	0.56530	0.555000	0.69702	GCC		0.632	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541	
DNA2	1763	broad.mit.edu	37	10	70196997	70196997	+	Splice_Site	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:70196997C>T	ENST00000358410.3	-	10	1467	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	DNA2_ENST00000399179.2_Splice_Site_p.E473K|DNA2_ENST00000399180.2_Splice_Site_p.E559K	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	473	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CCACTCTTCTCCCTATGAAAA	0.343																																						uc001jof.2																			0					0						c.(1675-1677)GAG>AAG		DNA replication helicase 2 homolog							82.0	78.0	79.0					10																	70196997		1844	4087	5931	SO:0001630	splice_region_variant	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70196997C>T	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.1416-1G>A	10.37:g.70196997C>T						DNA2_uc001jog.1_Missense_Mutation_p.E473K|DNA2_uc001joh.1_RNA	p.E559K	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN			10	1675	-			473					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37	c.1675G>A		.	.	.	.	.	.	.	.	.	.	C	20.4	3.986723	0.74589	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.95482	-3.2;-3.72;-3.14	5.61	5.61	0.85477	.	0.121980	0.53938	D	0.000042	D	0.98049	0.9357	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.981	D	0.97388	0.9987	10	0.32370	T	0.25	.	19.6448	0.95771	0.0:1.0:0.0:0.0	.	473;473	F8VR31;P51530	.;DNA2L_HUMAN	K	473;559;473;473	ENSP00000382133:E559K;ENSP00000382132:E473K;ENSP00000351185:E473K	ENSP00000351185:E473K	E	-	1	0	DNA2	69867003	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	7.129000	0.77225	2.633000	0.89246	0.557000	0.71058	GAG		0.343	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2		Missense_Mutation
PTEN	5728	broad.mit.edu	37	10	89692818	89692818	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:89692818T>C	ENST00000371953.3	+	5	1659	c.302T>C	c.(301-303)aTc>aCc	p.I101T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	101	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|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 proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.I101T(7)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.H93fs*5(1)|p.I101del(1)|p.I101N(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAGAACTTATCAAACCCTTT	0.368		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		60	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Missense(8)|Unknown(5)|Deletion - In frame(1)	p.I101T(7)|p.R55fs*1(4)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.I101M(1)|p.I101del(1)|p.I101N(1)|p.I101I(1)|p.I101fs*10(1)|p.F56fs*2(1)	central_nervous_system(18)|prostate(17)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|large_intestine(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CX983284	PTEN	X		c.(301-303)ATC>ACC		phosphatase and tensin homolog							110.0	103.0	105.0					10																	89692818		2203	4298	6501	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692818T>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.302T>C	10.37:g.89692818T>C	ENSP00000361021:p.Ile101Thr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.I101T	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1333	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	101			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.302T>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412660	0.83340	.	.	ENSG00000171862	ENST00000371953	D	0.98762	-5.12	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99108	0.9693	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99521	1.0958	9	.	.	.	-2.2759	14.8407	0.70220	0.0:0.0:0.0:1.0	.	101	P60484	PTEN_HUMAN	T	101	ENSP00000361021:I101T	.	I	+	2	0	PTEN	89682798	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.658000	0.83755	1.880000	0.54463	0.533000	0.62120	ATC		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
FAM178A	55719	broad.mit.edu	37	10	102697209	102697209	+	Silent	SNP	A	A	G	rs369513139		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:102697209A>G	ENST00000238961.4	+	10	3029	c.2487A>G	c.(2485-2487)acA>acG	p.T829T	FAM178A_ENST00000370269.3_Silent_p.T829T	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	829						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											TTTTAAGTACATTGATGGAAA	0.308																																						uc001krt.3																			0					0						c.(2485-2487)ACA>ACG		hypothetical protein LOC55719 isoform 1		A	,	0,4404		0,0,2202	136.0	135.0	136.0		2487,2487	-0.3	1.0	10		136	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	FAM178A	NM_001136123.1,NM_018121.3	,	0,1,6500	GG,GA,AA		0.0116,0.0,0.0077	,	829/1187,829/1174	102697209	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	55719							g.chr10:102697209A>G	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.2487A>G	10.37:g.102697209A>G						FAM178A_uc001krs.2_Silent_p.T829T	p.T829T	NM_018121	NP_060591	Q8IX21	F178A_HUMAN			10	3029	+			829					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Silent	SNP	ENST00000238961.4	37	c.2487A>G	CCDS7500.1																																																																																				0.308	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3		
OR56A3	390083	broad.mit.edu	37	11	5969282	5969282	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr11:5969282G>A	ENST00000329564.6	+	1	713	c.706G>A	c.(706-708)Ggt>Agt	p.G236S		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGGCAGAGGGTGCCGTGGC	0.522																																						uc010qzt.1																			0					0						c.(706-708)GGT>AGT		olfactory receptor, family 56, subfamily A,							213.0	208.0	210.0					11																	5969282		2188	4292	6480	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969282G>A		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.706G>A	11.37:g.5969282G>A	ENSP00000331572:p.Gly236Ser						p.G236S	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	706	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	236			Cytoplasmic (Potential).		A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.706G>A	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.366084	0.24684	.	.	ENSG00000184478	ENST00000329564	T	0.00044	8.83	5.13	-0.0449	0.13853	GPCR, rhodopsin-like superfamily (1);	0.207799	0.33650	N	0.004692	T	0.00178	0.0005	L	0.53671	1.685	0.09310	N	1	P	0.42296	0.775	P	0.48227	0.571	T	0.40887	-0.9539	10	0.66056	D	0.02	-7.2124	5.7332	0.18051	0.2884:0.0:0.5869:0.1247	.	236	Q8NH54	O56A3_HUMAN	S	236	ENSP00000331572:G236S	ENSP00000331572:G236S	G	+	1	0	OR56A3	5925858	0.888000	0.30383	0.092000	0.20876	0.011000	0.07611	3.288000	0.51739	0.078000	0.16900	-0.141000	0.14075	GGT		0.522	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443	
NUMA1	4926	broad.mit.edu	37	11	71729889	71729889	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr11:71729889C>T	ENST00000393695.3	-	10	1053	c.722G>A	c.(721-723)cGc>cAc	p.R241H	NUMA1_ENST00000351960.6_Missense_Mutation_p.R241H|NUMA1_ENST00000358965.6_Missense_Mutation_p.R241H|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGCTTGCGGTTCTCAGC	0.562			T	RARA	APL																																	uc001orl.1				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(721-723)CGC>CAC		nuclear mitotic apparatus protein 1							107.0	99.0	102.0					11																	71729889		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71729889C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.722G>A	11.37:g.71729889C>T	ENSP00000377298:p.Arg241His					NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.R241H|NUMA1_uc001orm.1_Missense_Mutation_p.R241H|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.R241H|NUMA1_uc001oro.1_Missense_Mutation_p.R241H|NUMA1_uc009ysy.1_Missense_Mutation_p.R241H|NUMA1_uc001orp.2_Missense_Mutation_p.R241H|NUMA1_uc001orq.2_Missense_Mutation_p.R241H	p.R241H	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			10	894	-			241			Potential.			Missense_Mutation	SNP	ENST00000393695.3	37	c.722G>A	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437832	0.83885	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217	T;T;T;T;T	0.47528	2.17;2.61;2.62;1.41;0.84	5.98	4.08	0.47627	.	0.224674	0.40469	N	0.001097	T	0.38374	0.1038	N	0.12182	0.205	0.21579	N	0.999638	D;B;B;B;D;B	0.71674	0.998;0.116;0.116;0.012;0.989;0.007	P;B;B;B;P;B	0.56278	0.795;0.025;0.025;0.003;0.674;0.003	T	0.15037	-1.0451	10	0.22706	T	0.39	.	7.9414	0.29961	0.1365:0.7229:0.0:0.1406	.	241;241;241;241;241;241	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	H	241	ENSP00000260051:R241H;ENSP00000351851:R241H;ENSP00000377298:R241H;ENSP00000444880:R241H;ENSP00000442936:R241H	ENSP00000260051:R241H	R	-	2	0	NUMA1	71407537	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.695000	0.37763	0.820000	0.34516	0.655000	0.94253	CGC		0.562	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1		
KMT2A	4297	broad.mit.edu	37	11	118376191	118376191	+	Missense_Mutation	SNP	C	C	T	rs147412214		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr11:118376191C>T	ENST00000389506.5	+	27	9575	c.9575C>T	c.(9574-9576)cCg>cTg	p.P3192L	KMT2A_ENST00000534358.1_Missense_Mutation_p.P3195L|KMT2A_ENST00000354520.4_Missense_Mutation_p.P3154L			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3192					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CAGCCTCCTCCGGATCCCCAA	0.507																																						uc001pta.2										T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(9574-9576)CCG>CTG		myeloid/lymphoid or mixed-lineage leukemia		C	LEU/PRO,LEU/PRO	1,4399	2.1+/-5.4	0,1,2199	102.0	106.0	104.0		9584,9575	5.6	1.0	11	dbSNP_134	104	0,8590		0,0,4295	no	missense,missense	MLL	NM_001197104.1,NM_005933.3	98,98	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	3195/3973,3192/3970	118376191	1,12989	2200	4295	6495	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118376191C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9575C>T	11.37:g.118376191C>T	ENSP00000374157:p.Pro3192Leu					MLL_uc001ptb.2_Missense_Mutation_p.P3195L	p.P3192L	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	9598	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3192					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.9575C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907284	0.33628	2.27E-4	0.0	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;T	0.81659	-1.52;-1.52;-1.49	5.55	5.55	0.83447	.	0.122857	0.56097	D	0.000025	T	0.68805	0.3041	L	0.36672	1.1	0.51233	D	0.999913	P;P	0.41131	0.739;0.739	B;B	0.25614	0.062;0.062	T	0.74959	-0.3486	10	0.72032	D	0.01	.	15.2155	0.73264	0.0:0.86:0.14:0.0	.	3195;3192	E9PQG7;Q03164	.;MLL1_HUMAN	L	3195;3192;3154;2102	ENSP00000436786:P3195L;ENSP00000374157:P3192L;ENSP00000346516:P3154L	ENSP00000346516:P3154L	P	+	2	0	MLL	117881401	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.658000	0.54482	2.894000	0.99253	0.591000	0.81541	CCG		0.507	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
CD163L1	283316	broad.mit.edu	37	12	7531814	7531814	+	Missense_Mutation	SNP	C	C	T	rs200380158		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:7531814C>T	ENST00000313599.3	-	9	2188	c.2131G>A	c.(2131-2133)Gtg>Atg	p.V711M	CD163L1_ENST00000416109.2_Missense_Mutation_p.V721M|CD163L1_ENST00000396630.1_Missense_Mutation_p.V711M|CD163L1_ENST00000544331.1_Intron			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	711	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAATTCCCACGGCACCCTGG	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.001		0.0	False		,,,				2504	0.0					uc001qsy.2																			0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(2131-2133)GTG>ATG		scavenger receptor cysteine-rich type 1							124.0	97.0	106.0					12																	7531814		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7531814C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2131G>A	12.37:g.7531814C>T	ENSP00000315945:p.Val711Met					CD163L1_uc010sge.1_Missense_Mutation_p.V721M	p.V711M	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			9	2157	-			711			SRCR 7.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.2131G>A	CCDS8577.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.658	0.489995	0.12702	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35973	1.28;1.28;1.28	2.69	-5.38	0.02673	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	2.380520	0.03455	N	0.211262	T	0.26774	0.0655	N	0.14661	0.345	0.09310	N	1	P;P	0.49961	0.93;0.786	P;P	0.47705	0.555;0.555	T	0.50329	-0.8841	10	0.87932	D	0	.	6.254	0.20864	0.399:0.4627:0.0:0.1383	.	721;711	E7EVK4;Q9NR16	.;C163B_HUMAN	M	711;721;711	ENSP00000315945:V711M;ENSP00000393474:V721M;ENSP00000379871:V711M	ENSP00000315945:V711M	V	-	1	0	CD163L1	7423081	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.251000	0.00074	-3.392000	0.00172	-3.006000	0.00076	GTG		0.502	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
NCKAP1L	3071	broad.mit.edu	37	12	54914540	54914540	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:54914540G>A	ENST00000293373.6	+	17	1767	c.1688G>A	c.(1687-1689)cGt>cAt	p.R563H	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R513H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	563					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GCCATGTTGCGTTATGCCATT	0.458																																						uc001sgc.3																			0				ovary(3)|central_nervous_system(1)	4						c.(1687-1689)CGT>CAT		NCK-associated protein 1-like							430.0	364.0	386.0					12																	54914540		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54914540G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1688G>A	12.37:g.54914540G>A	ENSP00000293373:p.Arg563His					NCKAP1L_uc010sox.1_Missense_Mutation_p.R105H|NCKAP1L_uc010soy.1_Missense_Mutation_p.R513H	p.R563H	NM_005337	NP_005328	P55160	NCKPL_HUMAN			17	1767	+			563					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1688G>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868428	0.91587	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.38560	1.13;1.13	5.46	5.46	0.80206	.	0.112873	0.64402	D	0.000016	T	0.65037	0.2653	M	0.80616	2.505	0.53688	D	0.999975	D	0.64830	0.994	P	0.62014	0.897	T	0.67841	-0.5566	10	0.59425	D	0.04	-12.4671	17.2416	0.87014	0.0:0.0:1.0:0.0	.	563	P55160	NCKPL_HUMAN	H	563;513	ENSP00000293373:R563H;ENSP00000445596:R513H	ENSP00000293373:R563H	R	+	2	0	NCKAP1L	53200807	1.000000	0.71417	0.986000	0.45419	0.911000	0.54048	7.618000	0.83043	2.750000	0.94351	0.549000	0.68633	CGT		0.458	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337	
CCT2	10576	broad.mit.edu	37	12	69987309	69987309	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:69987309C>T	ENST00000299300.6	+	10	1086	c.898C>T	c.(898-900)Cct>Tct	p.P300S	CCT2_ENST00000543146.2_Missense_Mutation_p.P253S|CCT2_ENST00000544368.2_Missense_Mutation_p.P300S	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	300					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.P300S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTATAATTATCCTGAACAGCT	0.353																																						uc001svb.1																			1	Substitution - Missense(1)		cervix(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(898-900)CCT>TCT		chaperonin containing TCP1, subunit 2							100.0	95.0	97.0					12																	69987309		2203	4300	6503	SO:0001583	missense	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69987309C>T	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.898C>T	12.37:g.69987309C>T	ENSP00000299300:p.Pro300Ser					CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.P300S|CCT2_uc010stl.1_Missense_Mutation_p.P253S	p.P300S	NM_006431	NP_006422	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		10	992	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		300					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	37	c.898C>T	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	C	34	5.367833	0.95900	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.76968	-1.06;-1.06;-1.06	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.86875	0.6038	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.84616	0.0681	9	.	.	.	-5.1868	20.2985	0.98592	0.0:1.0:0.0:0.0	.	300;300	F5GWF6;P78371	.;TCPB_HUMAN	S	300;300;253	ENSP00000299300:P300S;ENSP00000441847:P300S;ENSP00000445471:P253S	.	P	+	1	0	CCT2	68273576	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	7.435000	0.80391	2.793000	0.96121	0.655000	0.94253	CCT		0.353	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431	
UHRF1BP1L	23074	broad.mit.edu	37	12	100478382	100478382	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:100478382C>G	ENST00000279907.7	-	10	1372	c.1160G>C	c.(1159-1161)gGa>gCa	p.G387A	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.G37A|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.G387A	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	387										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATTGGCCCATCCATTTTTTGT	0.353																																						uc001tgq.2																			0				ovary(2)	2						c.(1159-1161)GGA>GCA		UHRF1 (ICBP90) binding protein 1-like isoform a							167.0	135.0	146.0					12																	100478382		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100478382C>G		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1160G>C	12.37:g.100478382C>G	ENSP00000279907:p.Gly387Ala					UHRF1BP1L_uc001tgr.2_Missense_Mutation_p.G387A|UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.G37A	p.G387A	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			10	1389	-			387					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.1160G>C	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768579	0.31320	.	.	ENSG00000111647	ENST00000279907;ENST00000545232;ENST00000356828;ENST00000551973;ENST00000551980	T;T;T;T;T	0.41758	3.02;2.99;1.64;1.61;0.99	5.48	5.48	0.80851	.	0.240906	0.41500	D	0.000862	T	0.29126	0.0724	L	0.34521	1.04	0.39596	D	0.969652	B;B	0.34161	0.264;0.439	B;B	0.32465	0.054;0.146	T	0.08868	-1.0701	10	0.14656	T	0.56	-18.068	11.0841	0.48076	0.1433:0.7185:0.1382:0.0	.	387;387	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	A	387;37;387;37;37	ENSP00000279907:G387A;ENSP00000444824:G37A;ENSP00000349285:G387A;ENSP00000448226:G37A;ENSP00000449189:G37A	ENSP00000279907:G387A	G	-	2	0	UHRF1BP1L	99002513	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.631000	0.24568	2.742000	0.94016	0.650000	0.86243	GGA		0.353	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947	
NOS1	4842	broad.mit.edu	37	12	117655934	117655934	+	Silent	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:117655934G>A	ENST00000338101.4	-	28	4312	c.4308C>T	c.(4306-4308)gtC>gtT	p.V1436V	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.V1402V			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TTCGCAGGGTGACTCCAAAAA	0.483																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1																			0				ovary(3)|skin(3)|pancreas(1)	7						c.(4204-4206)GTC>GTT		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						307.0	300.0	302.0					12																	117655934		1949	4153	6102	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117655934G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4308C>T	12.37:g.117655934G>A							p.V1402V	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	28	4892	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1402						Silent	SNP	ENST00000338101.4	37	c.4206C>T	CCDS55890.1																																																																																				0.483	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
SOCS4	122809	broad.mit.edu	37	14	55510054	55510054	+	Missense_Mutation	SNP	G	G	A	rs199994483		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr14:55510054G>A	ENST00000395472.2	+	2	627	c.295G>A	c.(295-297)Gtg>Atg	p.V99M	SOCS4_ENST00000555846.1_Missense_Mutation_p.V99M|SOCS4_ENST00000339298.2_Missense_Mutation_p.V99M	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	99					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						GCAAGATGCCGTGGGGCAGTG	0.423																																						uc001xbo.2																			0				ovary(1)|kidney(1)	2						c.(295-297)GTG>ATG		suppressor of cytokine signaling 4		G	MET/VAL,MET/VAL	0,4406		0,0,2203	98.0	96.0	97.0		295,295	3.3	1.0	14		97	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	SOCS4	NM_080867.2,NM_199421.1	21,21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	99/441,99/441	55510054	2,13004	2203	4300	6503	SO:0001583	missense	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55510054G>A	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.295G>A	14.37:g.55510054G>A	ENSP00000378855:p.Val99Met					SOCS4_uc001xbp.2_Missense_Mutation_p.V99M	p.V99M	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN			3	860	+			99						Missense_Mutation	SNP	ENST00000395472.2	37	c.295G>A	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	G	9.314	1.056277	0.19907	0.0	2.33E-4	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.40225	1.04;1.04;1.04	5.48	3.33	0.38152	.	0.153896	0.42294	N	0.000729	T	0.34571	0.0902	L	0.46157	1.445	0.37896	D	0.930891	B	0.19445	0.036	B	0.17722	0.019	T	0.27571	-1.0070	10	0.30854	T	0.27	-6.1362	11.7116	0.51628	0.215:0.0:0.785:0.0	.	99	Q8WXH5	SOCS4_HUMAN	M	99	ENSP00000378855:V99M;ENSP00000452522:V99M;ENSP00000341327:V99M	ENSP00000341327:V99M	V	+	1	0	SOCS4	54579807	0.998000	0.40836	0.955000	0.39395	0.996000	0.88848	2.693000	0.47027	1.326000	0.45319	0.655000	0.94253	GTG		0.423	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1		
DACT1	51339	broad.mit.edu	37	14	59113060	59113060	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr14:59113060C>A	ENST00000335867.4	+	4	1743	c.1719C>A	c.(1717-1719)caC>caA	p.H573Q	DACT1_ENST00000556859.1_Missense_Mutation_p.H292Q|DACT1_ENST00000541264.2_Missense_Mutation_p.H292Q|DACT1_ENST00000395153.3_Missense_Mutation_p.H536Q			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	573					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						ACCGGGGCCACAGGAACATGG	0.657																																						uc001xdw.2																			0				large_intestine(2)|lung(2)|ovary(1)	5						c.(1717-1719)CAC>CAA		dapper 1 isoform 1							22.0	25.0	24.0					14																	59113060		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113060C>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1719C>A	14.37:g.59113060C>A	ENSP00000337439:p.His573Gln					DACT1_uc010trv.1_Missense_Mutation_p.H292Q|DACT1_uc001xdx.2_Missense_Mutation_p.H536Q|DACT1_uc010trw.1_Missense_Mutation_p.H292Q	p.H573Q	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	1883	+			573					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1719C>A	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	C	4.159	0.027967	0.08054	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.07	1.09	0.20402	.	0.639390	0.15174	N	0.276476	T	0.22589	0.0545	N	0.22421	0.69	0.09310	N	1	B;B	0.28178	0.095;0.202	B;B	0.26416	0.069;0.043	T	0.22452	-1.0216	10	0.15499	T	0.54	-0.1385	5.7262	0.18015	0.2518:0.5586:0.1216:0.068	.	536;573	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	Q	292;292;536;573;292	ENSP00000451598:H292Q;ENSP00000378581:H292Q;ENSP00000378582:H536Q;ENSP00000337439:H573Q;ENSP00000442850:H292Q	ENSP00000337439:H573Q	H	+	3	2	DACT1	58182813	0.002000	0.14202	0.000000	0.03702	0.148000	0.21650	1.308000	0.33528	-0.070000	0.12908	0.563000	0.77884	CAC		0.657	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651	
ZFYVE26	23503	broad.mit.edu	37	14	68274397	68274397	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr14:68274397G>A	ENST00000347230.4	-	5	742	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R202W	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	202					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGCAAAGCCCGCAATGCCTTT	0.612																																						uc001xka.2																			0				ovary(9)|breast(2)	11						c.(604-606)CGG>TGG		zinc finger, FYVE domain containing 26							83.0	83.0	83.0					14																	68274397		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68274397G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.604C>T	14.37:g.68274397G>A	ENSP00000251119:p.Arg202Trp					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.R202W|ZFYVE26_uc010tta.1_Missense_Mutation_p.R202W	p.R202W	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	5	743	-			202					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.604C>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564494	0.27915	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.31769	1.63;1.48	5.51	-0.51	0.11973	.	0.809720	0.11201	N	0.588792	T	0.32882	0.0844	L	0.44542	1.39	0.09310	N	1	D;D;D	0.69078	0.997;0.995;0.985	P;P;B	0.50708	0.533;0.648;0.232	T	0.27739	-1.0065	10	0.87932	D	0	-0.0041	9.6873	0.40107	0.0:0.156:0.3128:0.5312	.	202;202;202	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	W	202	ENSP00000251119:R202W;ENSP00000450603:R202W	ENSP00000251119:R202W	R	-	1	2	ZFYVE26	67344150	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	0.813000	0.27225	-0.237000	0.09739	-2.067000	0.00394	CGG		0.612	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346	
CKB	1152	broad.mit.edu	37	14	103986328	103986328	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr14:103986328T>G	ENST00000348956.2	-	8	1376	c.1019A>C	c.(1018-1020)gAc>gCc	p.D340A		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	340	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GCCCAGGCGGTCAGCGTTGGA	0.662																																					Esophageal Squamous(186;2492 2823 49929 50127)	uc001ynf.1																			0					0						c.(1018-1020)GAC>GCC		brain creatine kinase	Creatine(DB00148)						42.0	37.0	39.0					14																	103986328		2201	4299	6500	SO:0001583	missense	1152				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr14:103986328T>G		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.1019A>C	14.37:g.103986328T>G	ENSP00000299198:p.Asp340Ala					CKB_uc001yne.1_Missense_Mutation_p.D162A|CKB_uc010awr.1_Missense_Mutation_p.D271A	p.D340A	NM_001823	NP_001814	P12277	KCRB_HUMAN	Epithelial(46;0.14)		8	1099	-		Melanoma(154;0.155)	340	D->E: No change in activity.		Phosphagen kinase C-terminal.		A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Missense_Mutation	SNP	ENST00000348956.2	37	c.1019A>C	CCDS9981.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.533744	0.85812	.	.	ENSG00000166165	ENST00000348956;ENST00000428256;ENST00000553610	T;T	0.10860	2.83;2.83	4.95	4.95	0.65309	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.03503	-1.1030	10	0.41790	T	0.15	-14.6071	14.6166	0.68552	0.0:0.0:0.0:1.0	.	340	P12277	KCRB_HUMAN	A	340;305;138	ENSP00000299198:D340A;ENSP00000451426:D138A	ENSP00000299198:D340A	D	-	2	0	CKB	103056081	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	7.876000	0.87215	1.853000	0.53794	0.379000	0.24179	GAC		0.662	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1		
CXADRP2	646243	broad.mit.edu	37	15	22016463	22016463	+	IGR	SNP	A	A	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr15:22016463A>G								DKFZP547L112 (4413 upstream) : MIR3118-6 (32810 downstream)																							AATATCTGACAGCTGAAAATT	0.388																																						uc010tzk.1																			0					0						c.(253-255)CTG>CCG		RecName: Full=Coxsackievirus and adenovirus receptor; AltName: Full=Coxsackievirus B-adenovirus receptor; AltName: Full=HCVADR;          Short=hCAR; AltName: Full=CVB3-binding protein; Flags: Precursor;																																				SO:0001628	intergenic_variant	646243							g.chr15:22016463A>G																													15.37:g.22016463A>G							p.L85P	NR_024387						1	416	-									Missense_Mutation	SNP		37	c.254T>C																																																																																				0	0.388								
GJD2	57369	broad.mit.edu	37	15	35044812	35044812	+	Missense_Mutation	SNP	C	C	T	rs376923298		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr15:35044812C>T	ENST00000290374.4	-	2	1309	c.833G>A	c.(832-834)cGc>cAc	p.R278H	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	278					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CTTGATCTTGCGCCATCCCAG	0.512																																						uc001zis.1																			0					0						c.(832-834)CGC>CAC		gap junction protein, delta 2, 36kDa		C	HIS/ARG	0,4402		0,0,2201	128.0	105.0	113.0		833	5.9	1.0	15		113	1,8595	1.2+/-3.3	0,1,4297	no	missense	GJD2	NM_020660.1	29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	278/322	35044812	1,12997	2201	4298	6499	SO:0001583	missense	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35044812C>T	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"""Ion channels / Gap junction proteins (connexins)"""	19154	protein-coding gene	gene with protein product	"""connexin 36"""	607058	"""gap junction protein, alpha 9, 36kDa"""	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.833G>A	15.37:g.35044812C>T	ENSP00000290374:p.Arg278His					uc001zit.1_5'Flank	p.R278H	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	833	-		all_lung(180;9.67e-07)	278			Cytoplasmic (Potential).		Q2M241|Q9P2R0	Missense_Mutation	SNP	ENST00000290374.4	37	c.833G>A	CCDS10040.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510511	0.85389	0.0	1.16E-4	ENSG00000159248	ENST00000290374	D	0.98249	-4.82	5.86	5.86	0.93980	.	0.089867	0.43416	D	0.000568	D	0.97349	0.9133	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	P	0.53689	0.732	D	0.97755	1.0217	10	0.56958	D	0.05	.	20.1864	0.98220	0.0:1.0:0.0:0.0	.	278	Q9UKL4	CXD2_HUMAN	H	278	ENSP00000290374:R278H	ENSP00000290374:R278H	R	-	2	0	GJD2	32832104	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.781000	0.95711	0.650000	0.86243	CGC		0.512	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2		
THSD4	79875	broad.mit.edu	37	15	71535188	71535188	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr15:71535188G>A	ENST00000355327.3	+	5	799	c.665G>A	c.(664-666)gGg>gAg	p.G222E	THSD4_ENST00000261862.6_Missense_Mutation_p.G222E			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	222	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCCAACATGGGCCTTTGTAC	0.597																																						uc002atb.1																			0				ovary(2)	2						c.(664-666)GGG>GAG		thrombospondin, type I, domain containing 4							65.0	70.0	68.0					15																	71535188		1986	4170	6156	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:71535188G>A	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.665G>A	15.37:g.71535188G>A	ENSP00000347484:p.Gly222Glu					THSD4_uc002atd.1_5'UTR	p.G222E	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN			4	744	+			222			TSP type-1 1.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.665G>A	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.287400	0.00248	.	.	ENSG00000187720	ENST00000355327;ENST00000261862	T;T	0.60299	0.2;0.2	5.63	1.48	0.22813	.	0.250021	0.39475	N	0.001357	T	0.35653	0.0939	L	0.29908	0.895	0.09310	N	1	B	0.27823	0.19	B	0.28139	0.086	T	0.32107	-0.9919	10	0.02654	T	1	.	7.9787	0.30170	0.1276:0.2495:0.6229:0.0	.	222	Q6ZMP0	THSD4_HUMAN	E	222	ENSP00000347484:G222E;ENSP00000261862:G222E	ENSP00000261862:G222E	G	+	2	0	THSD4	69322242	0.006000	0.16342	0.000000	0.03702	0.020000	0.10135	1.533000	0.36040	0.021000	0.15133	0.563000	0.77884	GGG		0.597	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817	
KRT27	342574	broad.mit.edu	37	17	38938701	38938701	+	Silent	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr17:38938701G>A	ENST00000301656.3	-	1	85	c.45C>T	c.(43-45)tgC>tgT	p.C15C		NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CAGTGCCCCCGCAAGAGCCAA	0.582																																						uc002hvg.2																			0					0						c.(43-45)TGC>TGT		keratin 27							34.0	34.0	34.0					17																	38938701		2202	4299	6501	SO:0001819	synonymous_variant	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38938701G>A	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.45C>T	17.37:g.38938701G>A							p.C15C	NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN			1	86	-		Breast(137;0.000812)	15			Head.|Gly-rich.			Silent	SNP	ENST00000301656.3	37	c.45C>T	CCDS11375.1																																																																																				0.582	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537	
MYO5B	4645	broad.mit.edu	37	18	47352977	47352977	+	Missense_Mutation	SNP	C	C	T	rs201080553		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr18:47352977C>T	ENST00000285039.7	-	40	5710	c.5411G>A	c.(5410-5412)cGg>cAg	p.R1804Q	RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.R127Q|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.R919Q|MYO5B_ENST00000592688.1_Missense_Mutation_p.R374Q	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1804					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGGGTCATTCCGCTCTTGTAG	0.408																																						uc002leb.2																			0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(5410-5412)CGG>CAG		myosin VB							141.0	126.0	131.0					18																	47352977		1898	4125	6023	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47352977C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5411G>A	18.37:g.47352977C>T	ENSP00000285039:p.Arg1804Gln					MYO5B_uc002ldz.2_Missense_Mutation_p.R374Q|MYO5B_uc002lea.2_Missense_Mutation_p.R919Q	p.R1804Q	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	40	5699	-			1804					B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.5411G>A	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473799	0.84640	.	.	ENSG00000167306	ENST00000285039;ENST00000356732;ENST00000324581	D;T	0.87491	-2.26;2.23	5.37	3.6	0.41247	.	0.145674	0.44285	D	0.000466	D	0.90535	0.7034	L	0.56124	1.755	0.43430	D	0.995597	D;D	0.89917	0.977;1.0	B;D	0.83275	0.425;0.996	D	0.89045	0.3451	10	0.44086	T	0.13	.	11.4466	0.50127	0.0:0.8539:0.0:0.1461	.	1804;919	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	Q	1804;676;919	ENSP00000285039:R1804Q;ENSP00000315531:R919Q	ENSP00000285039:R1804Q	R	-	2	0	MYO5B	45606975	0.989000	0.36119	0.999000	0.59377	0.924000	0.55760	6.808000	0.75206	0.851000	0.35264	0.650000	0.86243	CGG		0.408	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2		
RNF152	220441	broad.mit.edu	37	18	59483671	59483672	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr18:59483671_59483672delAG	ENST00000312828.3	-	2	1124_1125	c.25_26delCT	c.(25-27)ctgfs	p.L10fs		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	10					apoptotic process (GO:0006915)|protein K48-linked ubiquitination (GO:0070936)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				ACATTCCAGCAGAGAGTCCTGG	0.594																																						uc002lih.1																			0				breast(1)	1						c.(25-27)CTGfs		ring finger protein 152																																				SO:0001589	frameshift_variant	220441				apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:59483671_59483672delAG	AK096495	CCDS11978.1	18q21.33	2013-01-09			ENSG00000176641	ENSG00000176641		"""RING-type (C3HC4) zinc fingers"""	26811	protein-coding gene	gene with protein product							Standard	XM_005266650		Approved	FLJ39176	uc002lih.1	Q8N8N0	OTTHUMG00000132774	ENST00000312828.3:c.25_26delCT	18.37:g.59483675_59483676delAG	ENSP00000316628:p.Leu10fs						p.L9fs	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN			2	437_438	-		Colorectal(73;0.186)	9					B3KV99|Q52LA4	Frame_Shift_Del	DEL	ENST00000312828.3	37	c.25_26delCT	CCDS11978.1																																																																																				0.594	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256180.1	NM_173557	
ZNF407	55628	broad.mit.edu	37	18	72345779	72345779	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr18:72345779C>T	ENST00000299687.5	+	1	2804	c.2804C>T	c.(2803-2805)gCt>gTt	p.A935V	ZNF407_ENST00000577538.1_Missense_Mutation_p.A935V|ZNF407_ENST00000309902.6_Missense_Mutation_p.A935V|ZNF407_ENST00000582337.1_Missense_Mutation_p.A935V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	935					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AAAAAGAATGCTGGCTCAGCA	0.453																																						uc002llw.2																			0				ovary(2)	2						c.(2803-2805)GCT>GTT		zinc finger protein 407 isoform 1							63.0	64.0	63.0					18																	72345779		1909	4128	6037	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72345779C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2804C>T	18.37:g.72345779C>T	ENSP00000299687:p.Ala935Val					ZNF407_uc010xfc.1_Missense_Mutation_p.A935V|ZNF407_uc010dqu.1_Missense_Mutation_p.A935V|ZNF407_uc002llu.2_Missense_Mutation_p.A934V	p.A935V	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	2861	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	935					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.2804C>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	1.441	-0.567637	0.03910	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.09255	3.0;3.46	5.75	2.92	0.33932	.	0.520911	0.17579	N	0.169188	T	0.07324	0.0185	N	0.24115	0.695	0.09310	N	1	B;B;B	0.13145	0.007;0.003;0.003	B;B;B	0.10450	0.005;0.005;0.001	T	0.34403	-0.9830	10	0.52906	T	0.07	.	6.6718	0.23072	0.0:0.5541:0.268:0.1778	.	935;935;935	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	V	935	ENSP00000299687:A935V;ENSP00000310359:A935V	ENSP00000299687:A935V	A	+	2	0	ZNF407	70474767	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.589000	0.23939	-0.252000	0.09528	-0.385000	0.06624	GCT		0.453	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
TCF3	6929	broad.mit.edu	37	19	1623996	1623996	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr19:1623996G>A	ENST00000262965.5	-	8	847	c.503C>T	c.(502-504)aCg>aTg	p.T168M	TCF3_ENST00000344749.5_Missense_Mutation_p.T168M|TCF3_ENST00000395423.3_Missense_Mutation_p.T117M|TCF3_ENST00000588136.1_Missense_Mutation_p.T168M|TCF3_ENST00000453954.2_Missense_Mutation_p.T84M	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.T168M(1)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGGGCTGCGTGTCTGTTAG	0.612			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	uc002ltr.2				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	PBX1|HLF|TFPT		pre B-ALL		1	Substitution - Missense(1)		large_intestine(1)	lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1)	7						c.(502-504)ACG>ATG		transcription factor 3 isoform E12							55.0	59.0	57.0					19																	1623996		2203	4299	6502	SO:0001583	missense	6929				B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1623996G>A	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.503C>T	19.37:g.1623996G>A	ENSP00000262965:p.Thr168Met					TCF3_uc002lto.2_5'Flank|TCF3_uc002ltt.3_Missense_Mutation_p.T168M|TCF3_uc002ltq.2_Missense_Mutation_p.T117M|TCF3_uc002lts.1_Missense_Mutation_p.T84M	p.T168M	NM_003200	NP_003191	P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	570	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	168					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	c.503C>T	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473338	0.43942	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.46819	0.86;0.86;0.86	4.12	3.03	0.35002	.	2.621480	0.01879	N	0.037713	T	0.56978	0.2022	L	0.50333	1.59	0.09310	N	1	D;D;D	0.67145	0.996;0.992;0.981	P;P;P	0.54270	0.747;0.475;0.66	T	0.42849	-0.9427	10	0.34782	T	0.22	-27.4212	9.0781	0.36534	0.0:0.3785:0.6215:0.0	.	168;168;117	P15923-2;P15923;Q2TB39	.;TFE2_HUMAN;.	M	168;168;168;117	ENSP00000262965:T168M;ENSP00000344375:T168M;ENSP00000378813:T117M	ENSP00000262965:T168M	T	-	2	0	TCF3	1574996	0.018000	0.18449	0.048000	0.18961	0.236000	0.25371	2.171000	0.42453	1.853000	0.53794	0.313000	0.20887	ACG		0.612	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200	
ZNF506	440515	broad.mit.edu	37	19	19905675	19905675	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr19:19905675A>G	ENST00000540806.2	-	4	1109	c.1021T>C	c.(1021-1023)Tac>Cac	p.Y341H	CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000443905.2_Missense_Mutation_p.Y341H|ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000450683.2_Missense_Mutation_p.Y309H|CTC-559E9.6_ENST00000589657.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TCACATTTGTAGGGTACATCT	0.408																																						uc010eci.2																			0					0						c.(1021-1023)TAC>CAC		zinc finger protein 506 isoform 1							79.0	84.0	82.0					19																	19905675		2179	4287	6466	SO:0001583	missense	440515				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr19:19905675A>G	AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"""Zinc fingers, C2H2-type"", ""-"""	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.1021T>C	19.37:g.19905675A>G	ENSP00000440625:p.Tyr341His					ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.Y309H	p.Y341H	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN			4	1169	-			341			C2H2-type 6.		B3KTH6	Missense_Mutation	SNP	ENST00000540806.2	37	c.1021T>C	CCDS42531.1	.	.	.	.	.	.	.	.	.	.	-	14.92	2.678704	0.47886	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.21734	1.99;1.99;1.99	1.01	1.01	0.19927	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27866	0.0686	N	0.26162	0.8	0.24761	N	0.992929	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.09997	-1.0649	9	0.66056	D	0.02	.	5.7935	0.18373	1.0:0.0:0.0:0.0	.	341;309	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	H	341;341;309	ENSP00000393835:Y341H;ENSP00000440625:Y341H;ENSP00000408892:Y309H	ENSP00000393835:Y341H	Y	-	1	0	ZNF506	19766675	0.057000	0.20700	0.205000	0.23548	0.170000	0.22686	3.609000	0.54117	0.363000	0.24346	0.352000	0.21897	TAC		0.408	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218	
CEACAM20	125931	broad.mit.edu	37	19	45015149	45015149	+	RNA	SNP	G	G	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr19:45015149G>T	ENST00000454753.1	-	0	1955							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGGCATCAGAGGTTTGGGTGG	0.507																																						uc010ejn.1																			0				large_intestine(2)	2						c.(1675-1677)CCT>CAT		carcinoembryonic antigen-related cell adhesion							89.0	93.0	92.0					19																	45015149		1902	4110	6012			125931					integral to membrane		g.chr19:45015149G>T	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45015149G>T						CEACAM20_uc010ejo.1_Missense_Mutation_p.P547H|CEACAM20_uc010ejp.1_Missense_Mutation_p.P466H|CEACAM20_uc010ejq.1_Missense_Mutation_p.P454H	p.P559H	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN			12	1692	-		Prostate(69;0.0352)	559			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000454753.1	37	c.1676C>A																																																																																					0.507	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444	
TFPT	29844	broad.mit.edu	37	19	54617886	54617886	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr19:54617886C>T	ENST00000391759.1	-	2	623	c.218G>A	c.(217-219)cGc>cAc	p.R73H	PRPF31_ENST00000419967.1_5'Flank|PRPF31_ENST00000321030.4_5'Flank|TFPT_ENST00000391757.1_Missense_Mutation_p.R73H|TFPT_ENST00000391758.1_Missense_Mutation_p.R64H	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	73					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					TTCCCGCTGGCGCCGCCGCCG	0.652			T	TCF3	pre-B ALL																																	uc010yej.1				Dom	yes		19	19q13	29844	T	TCF3 (E2A) fusion partner (in childhood Leukemia)			L	TCF3		pre-B ALL		0					0						c.(217-219)CGC>CAC		TCF3 (E2A) fusion partner							51.0	61.0	57.0					19																	54617886		2202	4300	6502	SO:0001583	missense	29844				apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	g.chr19:54617886C>T	AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"""INO80 complex subunits"""	13630	protein-coding gene	gene with protein product	"""amida, partner of the E2A"", ""INO80 complex subunit F"""	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.218G>A	19.37:g.54617886C>T	ENSP00000375639:p.Arg73His					TFPT_uc010erd.2_Missense_Mutation_p.R73H|PRPF31_uc002qdh.2_5'Flank|PRPF31_uc010yek.1_5'Flank	p.R73H	NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN			2	624	-	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		73						Missense_Mutation	SNP	ENST00000391759.1	37	c.218G>A	CCDS12878.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999893	0.93227	.	.	ENSG00000105619	ENST00000391759;ENST00000391758;ENST00000391757	.	.	.	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000012	T	0.67173	0.2865	L	0.40543	1.245	0.54753	D	0.999984	D	0.89917	1.0	D	0.65010	0.931	T	0.69672	-0.5082	9	0.66056	D	0.02	-7.3712	16.3059	0.82848	0.0:1.0:0.0:0.0	.	73	P0C1Z6	TFPT_HUMAN	H	73;64;73	.	ENSP00000375637:R73H	R	-	2	0	TFPT	59309698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.272000	0.51616	2.516000	0.84829	0.563000	0.77884	CGC		0.652	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	NM_013342	
GALNT14	79623	broad.mit.edu	37	2	31178570	31178570	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:31178570C>T	ENST00000349752.5	-	6	1207	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	GALNT14_ENST00000324589.5_Missense_Mutation_p.A195T|GALNT14_ENST00000420311.2_Missense_Mutation_p.A155T|GALNT14_ENST00000406653.1_Missense_Mutation_p.A170T|GALNT14_ENST00000486564.1_5'Flank|GALNT14_ENST00000356174.3_Missense_Mutation_p.A157T	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	190	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GTGCCCTGGGCGATGTCAGCG	0.597																																						uc002rnr.2																			0				upper_aerodigestive_tract(2)|skin(1)	3						c.(568-570)GCC>ACC		N-acetylgalactosaminyltransferase 14							59.0	57.0	58.0					2																	31178570		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31178570C>T	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.568G>A	2.37:g.31178570C>T	ENSP00000288988:p.Ala190Thr					GALNT14_uc002rnq.2_Missense_Mutation_p.A170T|GALNT14_uc002rns.2_Missense_Mutation_p.A195T|GALNT14_uc010ymr.1_Missense_Mutation_p.A155T|GALNT14_uc010ezo.1_Missense_Mutation_p.A157T|GALNT14_uc010ezp.1_Missense_Mutation_p.A161T	p.A190T	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN			6	1187	-	Acute lymphoblastic leukemia(172;0.155)		190			Lumenal (Potential).|Catalytic subdomain A.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.568G>A	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491874	0.64074	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.61	4.74	0.60224	Glycosyl transferase, family 2 (1);	0.050238	0.85682	D	0.000000	D	0.88407	0.6428	H	0.94222	3.51	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.998;0.998;0.999;0.998;0.999	D	0.91683	0.5360	10	0.66056	D	0.02	.	16.1182	0.81324	0.1348:0.8652:0.0:0.0	.	155;155;157;195;190;170	F5H263;B7Z5C5;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;.;GLT14_HUMAN;.	T	190;195;170;157;155;157	ENSP00000288988:A190T;ENSP00000314500:A195T;ENSP00000385435:A170T;ENSP00000348497:A157T;ENSP00000415514:A155T;ENSP00000406399:A157T	ENSP00000314500:A195T	A	-	1	0	GALNT14	31032074	1.000000	0.71417	0.161000	0.22692	0.009000	0.06853	4.536000	0.60636	1.395000	0.46643	-0.226000	0.12346	GCC		0.597	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572	
LTBP1	4052	broad.mit.edu	37	2	33482448	33482448	+	Silent	SNP	A	A	G	rs371560954		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:33482448A>G	ENST00000404816.2	+	12	2618	c.2265A>G	c.(2263-2265)gtA>gtG	p.V755V	LTBP1_ENST00000404525.1_Intron|LTBP1_ENST00000390003.4_Silent_p.V429V|LTBP1_ENST00000407925.1_Silent_p.V429V|LTBP1_ENST00000354476.3_Silent_p.V755V|LTBP1_ENST00000418533.2_Silent_p.V429V|LTBP1_ENST00000402934.1_Intron			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	755					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGGACCTGTATTTGTCAAGC	0.502													A|||	1	0.000199681	0.0008	0.0	5008	,	,		17607	0.0		0.0	False		,,,				2504	0.0					uc002ros.2																			0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(2263-2265)GTA>GTG		latent transforming growth factor beta binding		A	,,,,	2,4404	4.2+/-10.8	0,2,2201	125.0	108.0	114.0		1287,1287,,,2265	2.0	1.0	2		114	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron,intron,coding-synonymous	LTBP1	NM_000627.3,NM_001166264.1,NM_001166265.1,NM_001166266.1,NM_206943.2	,,,,	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	,,,,	429/1396,429/1354,,,755/1722	33482448	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33482448A>G		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2265A>G	2.37:g.33482448A>G						LTBP1_uc002rot.2_Silent_p.V429V|LTBP1_uc002rou.2_Silent_p.V429V|LTBP1_uc002rov.2_Intron|LTBP1_uc010ymz.1_Silent_p.V429V|LTBP1_uc010yna.1_Intron	p.V755V	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			12	2265	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	755					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	c.2265A>G	CCDS33177.2																																																																																				0.502	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	
ZAP70	7535	broad.mit.edu	37	2	98351132	98351132	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:98351132G>A	ENST00000264972.5	+	9	1254	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	ZAP70_ENST00000442208.1_Missense_Mutation_p.G221S|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.G40S	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	347	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						ACTTGGCTGCGGCAACTTTGG	0.622																																						uc002syd.1																			0				lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(1039-1041)GGC>AGC		zeta-chain associated protein kinase 70kDa							149.0	125.0	133.0					2																	98351132		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351132G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1039G>A	2.37:g.98351132G>A	ENSP00000264972:p.Gly347Ser					ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.G237S|ZAP70_uc002syf.1_Missense_Mutation_p.G40S	p.G347S	NM_001079	NP_001070	P43403	ZAP70_HUMAN			9	1246	+			347			Protein kinase.|ATP (By similarity).		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1039G>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	35	5.480383	0.96307	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.94793	-3.52;-3.52;-3.52	5.41	5.41	0.78517	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000098	D	0.98223	0.9412	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99226	1.0880	10	0.87932	D	0	.	17.0749	0.86583	0.0:0.0:1.0:0.0	.	221;347	P43403-3;P43403	.;ZAP70_HUMAN	S	347;221;40	ENSP00000264972:G347S;ENSP00000411141:G221S;ENSP00000400475:G40S	ENSP00000264972:G347S	G	+	1	0	ZAP70	97717564	1.000000	0.71417	0.977000	0.42913	0.939000	0.58152	9.476000	0.97823	2.723000	0.93209	0.655000	0.94253	GGC		0.622	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1		
GCC2	9648	broad.mit.edu	37	2	109092033	109092033	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:109092033A>G	ENST00000309863.6	+	8	3617	c.2903A>G	c.(2902-2904)aAt>aGt	p.N968S		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	968					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAGAAAATAAATAAGATAAAA	0.299																																						uc002tec.2																			0				ovary(1)	1						c.(2902-2904)AAT>AGT		GRIP and coiled-coil domain-containing 2							19.0	22.0	21.0					2																	109092033		2174	4286	6460	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109092033A>G	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2903A>G	2.37:g.109092033A>G	ENSP00000307939:p.Asn968Ser					GCC2_uc002ted.2_Missense_Mutation_p.N867S	p.N968S	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			8	3057	+			968			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.2903A>G	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.895255	0.33442	.	.	ENSG00000135968	ENST00000309863	T	0.32988	1.43	5.43	1.6	0.23607	.	0.261482	0.35349	N	0.003261	T	0.15392	0.0371	N	0.21583	0.68	0.33825	D	0.629578	B	0.15141	0.012	B	0.12837	0.008	T	0.29088	-1.0023	10	0.07813	T	0.8	.	8.015	0.30376	0.6585:0.0:0.3415:0.0	.	968	Q8IWJ2	GCC2_HUMAN	S	968	ENSP00000307939:N968S	ENSP00000307939:N968S	N	+	2	0	GCC2	108458465	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.305000	0.43664	0.422000	0.26005	0.533000	0.62120	AAT		0.299	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	
KIF5C	3800	broad.mit.edu	37	2	149866823	149866823	+	Silent	SNP	C	C	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:149866823C>A	ENST00000435030.1	+	24	3093	c.2725C>A	c.(2725-2727)Cgg>Agg	p.R909R	KIF5C_ENST00000414838.2_Silent_p.R814R|KIF5C_ENST00000397413.1_Silent_p.R677R|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	909	Globular.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGAGGCCGTGCGGGCCAAGAA	0.632																																						uc010zbu.1																			0				skin(1)	1						c.(2725-2727)CGG>AGG		kinesin family member 5C							22.0	27.0	25.0					2																	149866823		2169	4287	6456	SO:0001819	synonymous_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149866823C>A	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2725C>A	2.37:g.149866823C>A						KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Silent_p.R191R	p.R909R	NM_004522	NP_004513	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	24	3093	+			909			|Globular.		O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37	c.2725C>A																																																																																					0.632	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	
DNTTIP1	116092	broad.mit.edu	37	20	44431987	44431987	+	Silent	SNP	C	C	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr20:44431987C>A	ENST00000372622.3	+	8	641	c.573C>A	c.(571-573)tcC>tcA	p.S191S		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	191						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AACCAAAATCCTGTGAACCAA	0.493																																						uc002xpk.2																			0				ovary(1)|central_nervous_system(1)	2						c.(571-573)TCC>TCA		terminal deoxynucleotidyltransferase interacting							84.0	73.0	77.0					20																	44431987		2203	4300	6503	SO:0001819	synonymous_variant	116092					nucleus		g.chr20:44431987C>A	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.573C>A	20.37:g.44431987C>A							p.S191S	NM_052951	NP_443183	Q9H147	TDIF1_HUMAN			8	641	+		Myeloproliferative disorder(115;0.0122)	191					B2RA18|Q96DE3|Q9BQP2|Q9H148	Silent	SNP	ENST00000372622.3	37	c.573C>A	CCDS13369.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.646|9.646	1.140216|1.140216	0.21205|0.21205	.|.	.|.	ENSG00000101457|ENSG00000101457	ENST00000456939|ENST00000435014	.|.	.|.	.|.	5.27|5.27	4.3|4.3	0.51218|0.51218	.|.	.|.	.|.	.|.	.|.	T|T	0.58452|0.58452	0.2123|0.2123	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56129|0.56129	-0.8030|-0.8030	4|4	.|.	.|.	.|.	-17.0863|-17.0863	8.0765|8.0765	0.30720|0.30720	0.0:0.8071:0.0:0.1929|0.0:0.8071:0.0:0.1929	.|.	.|.	.|.	.|.	M|H	142|118	.|.	.|.	L|P	+|+	1|2	2|0	DNTTIP1|DNTTIP1	43865394|43865394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.264000|1.264000	0.33015|0.33015	1.379000|1.379000	0.46325|0.46325	0.467000|0.467000	0.42956|0.42956	CTG|CCT		0.493	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951	
UMODL1	89766	broad.mit.edu	37	21	43539379	43539379	+	Silent	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr21:43539379C>T	ENST00000408910.2	+	15	2634	c.2634C>T	c.(2632-2634)acC>acT	p.T878T	UMODL1_ENST00000400424.2_Silent_p.T806T|UMODL1_ENST00000400427.1_Silent_p.T934T|UMODL1_ENST00000408989.2_Silent_p.T1006T	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	878	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CATTTCTCACCGCCTTCCAGA	0.567																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1																			0				ovary(2)|skin(1)	3						c.(2632-2634)ACC>ACT		uromodulin-like 1 isoform 1 precursor							268.0	280.0	276.0					21																	43539379		2188	4279	6467	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43539379C>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.2634C>T	21.37:g.43539379C>T						UMODL1_uc002zad.1_Silent_p.T806T|UMODL1_uc002zae.1_Silent_p.T934T|UMODL1_uc002zag.1_Silent_p.T1006T|UMODL1_uc002zal.1_5'Flank	p.T878T	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			15	2634	+			878			Extracellular (Potential).|SEA 2.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.2634C>T	CCDS42936.1																																																																																				0.567	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		
DNMT3L	29947	broad.mit.edu	37	21	45679526	45679526	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr21:45679526C>T	ENST00000418993.1	-	4	703	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	DNMT3L_ENST00000270172.3_Missense_Mutation_p.A74T	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	74	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TTACATGGGGCGCAGATCCCT	0.542																																						uc002zeg.1																			0				skin(2)	2						c.(220-222)GCC>ACC		cytosine-5-methyltransferase 3-like protein							81.0	69.0	73.0					21																	45679526		2201	4299	6500	SO:0001583	missense	29947				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	g.chr21:45679526C>T	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.220G>A	21.37:g.45679526C>T	ENSP00000412862:p.Ala74Thr					DNMT3L_uc002zeh.1_Missense_Mutation_p.A74T	p.A74T	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN		Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)	4	704	-			74			GATA-type; atypical.|ADD.		E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	c.220G>A	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	C	0.121	-1.125997	0.01770	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	D;D;T	0.82893	-1.66;-1.65;-1.39	4.36	0.0271	0.14153	.	0.697426	0.13789	N	0.362654	T	0.64159	0.2573	L	0.31207	0.915	0.09310	N	1	B;B	0.24132	0.098;0.098	B;B	0.10450	0.005;0.005	T	0.42932	-0.9422	10	0.15066	T	0.55	-13.3594	1.3013	0.02080	0.175:0.4536:0.1705:0.2008	.	74;74	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	T	74;74;59	ENSP00000270172:A74T;ENSP00000412862:A74T;ENSP00000400242:A59T	ENSP00000270172:A74T	A	-	1	0	DNMT3L	44503954	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	-0.166000	0.09954	0.179000	0.19938	-0.140000	0.14226	GCC		0.542	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369	
INPP5J	27124	broad.mit.edu	37	22	31523358	31523358	+	Missense_Mutation	SNP	G	G	A	rs529365616		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr22:31523358G>A	ENST00000331075.5	+	6	1676	c.1627G>A	c.(1627-1629)Gtg>Atg	p.V543M	INPP5J_ENST00000400294.2_Missense_Mutation_p.V176M|INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000404390.3_Missense_Mutation_p.V175M|INPP5J_ENST00000412277.2_Missense_Mutation_p.V476M|INPP5J_ENST00000405300.1_Missense_Mutation_p.V176M|INPP5J_ENST00000404453.1_5'Flank	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	543	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CAAGGGTGGCGTGAGCGTGCG	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14720	0.0		0.0	False		,,,				2504	0.0					uc003aju.3																			0				skin(1)	1						c.(1627-1629)GTG>ATG		phosphatidylinositol (4,5) bisphosphate							37.0	40.0	39.0					22																	31523358		2150	4250	6400	SO:0001583	missense	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31523358G>A	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1627G>A	22.37:g.31523358G>A	ENSP00000333262:p.Val543Met					INPP5J_uc003ajv.3_Missense_Mutation_p.V176M|INPP5J_uc003ajs.3_Missense_Mutation_p.V176M|INPP5J_uc011alk.1_Missense_Mutation_p.V476M|INPP5J_uc010gwg.2_Missense_Mutation_p.V108M|INPP5J_uc003ajw.2_Translation_Start_Site|INPP5J_uc003ajt.3_Missense_Mutation_p.V175M|INPP5J_uc003ajx.2_5'Flank|INPP5J_uc003ajy.2_5'Flank|INPP5J_uc003ajz.2_5'Flank	p.V543M	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN			6	1719	+			543			Catalytic (Potential).		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	37	c.1627G>A		.	.	.	.	.	.	.	.	.	.	G	29.2	4.987729	0.93106	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390	D;D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87;-3.87	4.77	4.77	0.60923	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.64402	D	0.000001	D	0.98664	0.9552	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.99809	1.1040	10	0.87932	D	0	.	18.2124	0.89874	0.0:0.0:1.0:0.0	.	543;175	Q15735;Q15735-3	PI5PA_HUMAN;.	M	543;476;176;176;175	ENSP00000333262:V543M;ENSP00000392924:V476M;ENSP00000383150:V176M;ENSP00000384596:V176M;ENSP00000384534:V175M	ENSP00000333262:V543M	V	+	1	0	INPP5J	29853358	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	7.613000	0.82986	2.363000	0.80096	0.655000	0.94253	GTG		0.632	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837	
SFI1	9814	broad.mit.edu	37	22	31957290	31957290	+	Missense_Mutation	SNP	C	C	T	rs199982480	byFrequency	TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr22:31957290C>T	ENST00000400288.2	+	8	782	c.677C>T	c.(676-678)aCg>aTg	p.T226M	SFI1_ENST00000400289.1_Missense_Mutation_p.T144M|SFI1_ENST00000443011.1_Missense_Mutation_p.T73M|SFI1_ENST00000414585.1_Missense_Mutation_p.T73M|SFI1_ENST00000540643.1_Missense_Mutation_p.T202M|SFI1_ENST00000443326.1_Missense_Mutation_p.T144M|SFI1_ENST00000432498.1_Missense_Mutation_p.T226M	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	226					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TGGTGGAGCACGTGGAGGCAG	0.572											OREG0026480	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	c|||	2	0.000399361	0.0	0.0	5008	,	,		20125	0.002		0.0	False		,,,				2504	0.0					uc003ale.2																			0				central_nervous_system(1)	1						c.(676-678)ACG>ATG		spindle assembly associated Sfi1 homolog isoform		C	MET/THR,MET/THR	0,4270		0,0,2135	79.0	82.0	81.0		677,677	-2.1	0.1	22		81	1,8503		0,1,4251	no	missense,missense	SFI1	NM_001007467.1,NM_014775.2	81,81	0,1,6386	TT,TC,CC		0.0118,0.0,0.0078	benign,benign	226/1243,226/1212	31957290	1,12773	2135	4252	6387	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31957290C>T	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.677C>T	22.37:g.31957290C>T	ENSP00000383145:p.Thr226Met		OREG0026480	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	828	SFI1_uc003ald.1_Missense_Mutation_p.T202M|SFI1_uc003alf.2_Missense_Mutation_p.T226M|SFI1_uc003alg.2_Missense_Mutation_p.T144M|SFI1_uc011alp.1_Missense_Mutation_p.T144M|SFI1_uc011alq.1_Missense_Mutation_p.T202M|SFI1_uc003alh.2_RNA	p.T226M	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN			8	1070	+			226					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.677C>T	CCDS43004.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	12.62	1.993332	0.35131	0.0	1.18E-4	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000450787	T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;2.84;2.85;1.53;1.53;1.92	5.14	-2.14	0.07123	.	1.387810	0.04702	N	0.416099	T	0.13243	0.0321	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.20988	0.002;0.012;0.034;0.012;0.009;0.05	B;B;B;B;B;B	0.12837	0.002;0.008;0.008;0.005;0.003;0.008	T	0.17992	-1.0351	10	0.39692	T	0.17	.	1.1554	0.01795	0.2847:0.2796:0.0889:0.3467	.	202;144;144;226;226;202	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	M	226;202;144;202;73;73;144;226;140	ENSP00000402679:T226M;ENSP00000443025:T202M;ENSP00000416469:T144M;ENSP00000397148:T73M;ENSP00000401199:T73M;ENSP00000383146:T144M;ENSP00000383145:T226M;ENSP00000389364:T140M	ENSP00000383145:T226M	T	+	2	0	SFI1	30287290	0.009000	0.17119	0.070000	0.20053	0.522000	0.34438	-0.142000	0.10311	-0.201000	0.10284	-1.650000	0.00758	ACG		0.572	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775	
GTSE1	51512	broad.mit.edu	37	22	46725343	46725343	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr22:46725343T>C	ENST00000454366.1	+	11	2227	c.2015T>C	c.(2014-2016)tTc>tCc	p.F672S		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	653					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTCATCGACTTCTGCGATACC	0.498																																					GBM(153;542 1915 12487 29016 50495)	uc011aqy.1																			0				ovary(1)	1						c.(2014-2016)TTC>TCC		G-2 and S-phase expressed 1							158.0	151.0	153.0					22																	46725343		2203	4300	6503	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46725343T>C	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.2015T>C	22.37:g.46725343T>C	ENSP00000415430:p.Phe672Ser					GTSE1_uc011aqz.1_Missense_Mutation_p.F519S|GTSE1_uc003bhn.2_RNA|uc011ara.1_5'Flank|uc003bho.3_5'Flank	p.F672S	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	11	2227	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	653					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.2015T>C	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	T	15.83	2.948638	0.53186	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.10573	2.86	4.91	4.91	0.64330	.	0.645821	0.15454	N	0.261503	T	0.27967	0.0689	M	0.72118	2.19	0.28682	N	0.905031	D	0.67145	0.996	P	0.61722	0.893	T	0.06643	-1.0815	10	0.59425	D	0.04	-8.862	11.2269	0.48888	0.0:0.0:0.0:1.0	.	653	Q9NYZ3	GTSE1_HUMAN	S	672;632	ENSP00000415430:F672S	ENSP00000354634:F632S	F	+	2	0	GTSE1	45104007	0.863000	0.29885	0.594000	0.28785	0.044000	0.14063	3.332000	0.52083	1.957000	0.56846	0.533000	0.62120	TTC		0.498	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426	
ZNF860	344787	broad.mit.edu	37	3	32030908	32030908	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:32030908G>C	ENST00000360311.4	+	2	886	c.337G>C	c.(337-339)Gag>Cag	p.E113Q		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	113					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						TCATGACTTTGAGTTTCAATG	0.388																																						uc011axg.1																			0				ovary(1)	1						c.(337-339)GAG>CAG		zinc finger protein 860							59.0	44.0	49.0					3																	32030908		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32030908G>C	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.337G>C	3.37:g.32030908G>C	ENSP00000373274:p.Glu113Gln						p.E113Q	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN			2	886	+			113					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.337G>C	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	G	7.106	0.575135	0.13623	.	.	ENSG00000197385	ENST00000360311	T	0.05996	3.36	0.345	0.345	0.16011	.	.	.	.	.	T	0.05593	0.0147	L	0.57536	1.79	0.09310	N	1	P	0.41524	0.753	B	0.34722	0.188	T	0.33317	-0.9873	8	.	.	.	.	2.7629	0.05312	0.4128:0.0:0.5872:0.0	.	113	A6NHJ4	ZN860_HUMAN	Q	113	ENSP00000373274:E113Q	.	E	+	1	0	ZNF860	32005912	0.000000	0.05858	0.007000	0.13788	0.115000	0.19883	-0.624000	0.05540	0.392000	0.25172	0.393000	0.25936	GAG		0.388	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1		
SCN5A	6331	broad.mit.edu	37	3	38639416	38639416	+	Missense_Mutation	SNP	C	C	T	rs199473145		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:38639416C>T	ENST00000333535.4	-	14	2215	c.2066G>A	c.(2065-2067)cGt>cAt	p.R689H	SCN5A_ENST00000423572.2_Missense_Mutation_p.R689H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R689H|SCN5A_ENST00000413689.1_Missense_Mutation_p.R689H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R689H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R689H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R689H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R689H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R689H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R689H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	689					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGGGCGAGACGGTTCCAGCA	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		21358	0.0		0.0	False		,,,				2504	0.001					uc003cio.2																			0				ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	GRCh37	CM057209	SCN5A	M		c.(2065-2067)CGT>CAT		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4276		0,0,2138	119.0	123.0	122.0		2066,2066,2066,2066,2066,2066	2.0	1.0	3		122	1,8471		0,1,4235	no	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	29,29,29,29,29,29	0,1,6373	TT,TC,CC		0.0118,0.0,0.0078	benign,benign,benign,benign,benign,benign	689/2016,689/2017,689/1999,689/1984,689/1963,689/2017	38639416	1,12747	2138	4236	6374	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38639416C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2066G>A	3.37:g.38639416C>T	ENSP00000328968:p.Arg689His					SCN5A_uc003cin.2_Missense_Mutation_p.R689H|SCN5A_uc003cil.3_Missense_Mutation_p.R689H|SCN5A_uc010hhi.2_Missense_Mutation_p.R689H|SCN5A_uc010hhk.2_Missense_Mutation_p.R689H|SCN5A_uc011ayr.1_Missense_Mutation_p.R689H|SCN5A_uc010hhj.1_Missense_Mutation_p.R300H	p.R689H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	14	2260	-	Medulloblastoma(35;0.163)		689					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.2066G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453533	0.26161	0.0	1.18E-4	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96168	-3.84;-3.87;-3.87;-3.88;-3.87;-3.84;-3.87;-3.93;-3.88;-3.88	4.9	2.01	0.26516	.	1.137170	0.06183	N	0.679836	D	0.92143	0.7509	L	0.39898	1.24	0.29777	N	0.834339	B;B;B;B;B;B;B	0.14012	0.001;0.002;0.003;0.001;0.001;0.009;0.001	B;B;B;B;B;B;B	0.09377	0.001;0.0;0.002;0.001;0.001;0.004;0.002	D	0.83784	0.0227	10	0.59425	D	0.04	.	7.0199	0.24908	0.0:0.4331:0.0:0.5669	.	689;689;689;689;689;689;689	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	H	689	ENSP00000398962:R689H;ENSP00000398266:R689H;ENSP00000410257:R689H;ENSP00000388797:R689H;ENSP00000397915:R689H;ENSP00000416634:R689H;ENSP00000328968:R689H;ENSP00000399524:R689H;ENSP00000403355:R689H;ENSP00000413996:R689H	ENSP00000328968:R689H	R	-	2	0	SCN5A	38614420	0.039000	0.19947	0.969000	0.41365	0.377000	0.30045	0.239000	0.18023	0.227000	0.20999	0.491000	0.48974	CGT		0.537	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
GPR27	2850	broad.mit.edu	37	3	71804047	71804047	+	Missense_Mutation	SNP	T	T	G	rs201847276		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:71804047T>G	ENST00000304411.2	+	1	847	c.847T>G	c.(847-849)Tgc>Ggc	p.C283G	EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000421769.2_5'Flank|EIF4E3_ENST00000295612.3_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	283					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C283G(1)		kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GAAGAGGCTGTGCAAGATGTT	0.721																																						uc011bge.1																			1	Substitution - Missense(1)		prostate(1)	ovary(1)	1						c.(847-849)TGC>GGC		G protein-coupled receptor 27							30.0	38.0	36.0					3																	71804047		2199	4300	6499	SO:0001583	missense	2850					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:71804047T>G	AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"""GPCR / Class A : Orphans"""	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.847T>G	3.37:g.71804047T>G	ENSP00000303149:p.Cys283Gly					EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank	p.C283G	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)	1	847	+		Prostate(10;0.00899)	283			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000304411.2	37	c.847T>G	CCDS2915.1	.	.	.	.	.	.	.	.	.	.	T	5.729	0.318930	0.10845	.	.	ENSG00000170837	ENST00000304411	T	0.71934	-0.61	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.073354	0.56097	U	0.000032	T	0.44664	0.1304	N	0.02412	-0.56	0.41589	D	0.988785	B	0.12013	0.005	B	0.09377	0.004	T	0.39272	-0.9622	10	0.42905	T	0.14	-3.7606	12.1822	0.54218	0.0:0.0:0.0:1.0	.	283	Q9NS67	GPR27_HUMAN	G	283	ENSP00000303149:C283G	ENSP00000303149:C283G	C	+	1	0	GPR27	71886737	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	2.669000	0.46825	1.273000	0.44346	0.254000	0.18369	TGC		0.721	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	NM_018971	
CD96	10225	broad.mit.edu	37	3	111356989	111356989	+	Missense_Mutation	SNP	C	C	T	rs140955483	byFrequency	TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:111356989C>T	ENST00000283285.5	+	13	1630	c.1499C>T	c.(1498-1500)aCg>aTg	p.T500M	CD96_ENST00000352690.4_Missense_Mutation_p.T484M	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	500	Pro/Ser/Thr-rich.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AATGGATCTACGAAAACTAAT	0.388									Opitz Trigonocephaly syndrome				C|||	2	0.000399361	0.0008	0.0	5008	,	,		17337	0.0		0.0	False		,,,				2504	0.001					uc003dxw.2																			0				skin(2)|central_nervous_system(1)	3						c.(1498-1500)ACG>ATG		CD96 antigen isoform 1 precursor		C	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	181.0	165.0	170.0		1451,1499	2.8	1.0	3	dbSNP_134	170	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CD96	NM_005816.4,NM_198196.2	81,81	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging,probably-damaging	484/570,500/586	111356989	3,13003	2203	4300	6503	SO:0001583	missense	10225	Opitz_Trigonocephaly_syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111356989C>T	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1499C>T	3.37:g.111356989C>T	ENSP00000283285:p.Thr500Met					CD96_uc003dxx.2_Missense_Mutation_p.T484M|CD96_uc010hpy.1_Missense_Mutation_p.T483M	p.T500M	NM_198196	NP_937839	P40200	TACT_HUMAN			13	1669	+			500			Extracellular (Potential).|Pro/Ser/Thr-rich.		Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.1499C>T	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452815	0.26074	4.54E-4	1.16E-4	ENSG00000153283	ENST00000352690;ENST00000283285	T;T	0.74106	-0.81;-0.81	4.7	2.77	0.32553	.	0.325477	0.26828	N	0.022291	T	0.75125	0.3807	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.66847	0.886;0.947;0.886	T	0.73733	-0.3890	10	0.54805	T	0.06	-2.7937	9.6167	0.39696	0.3797:0.6203:0.0:0.0	.	483;484;500	E9PEJ1;P40200-2;P40200	.;.;TACT_HUMAN	M	484;500	ENSP00000342040:T484M;ENSP00000283285:T500M	ENSP00000283285:T500M	T	+	2	0	CD96	112839679	0.026000	0.19158	0.989000	0.46669	0.610000	0.37248	0.020000	0.13466	0.612000	0.30071	0.563000	0.77884	ACG		0.388	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2		
TNK2	10188	broad.mit.edu	37	3	195599202	195599203	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:195599202_195599203delCT	ENST00000333602.6	-	10	2012_2013	c.1395_1396delAG	c.(1393-1398)acagggfs	p.G466fs	TNK2_ENST00000428187.1_Frame_Shift_Del_p.G498fs|TNK2_ENST00000392400.1_Frame_Shift_Del_p.G466fs|TNK2_ENST00000381916.2_Frame_Shift_Del_p.G529fs|TNK2_ENST00000316664.3_Frame_Shift_Del_p.G466fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	466	CRIB.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCGCCATGCCCTGTGTGGATGA	0.673																																						uc003fvu.1																			0				ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10						c.(1393-1398)ACAGGGfs		tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195599202_195599203delCT	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1395_1396delAG	3.37:g.195599202_195599203delCT	ENSP00000329425:p.Gly466fs					TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_5'UTR|TNK2_uc003fvs.1_Frame_Shift_Del_p.T497fs|TNK2_uc003fvt.1_Frame_Shift_Del_p.T528fs|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Frame_Shift_Del_p.T295fs	p.T465fs	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	10	1938_1939	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	465_466	Missing (in Ref. 4; AAH08884).		CRIB.		Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Del	DEL	ENST00000333602.6	37	c.1395_1396delAG	CCDS33928.1																																																																																				0.673	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781	
PKD2	5311	broad.mit.edu	37	4	88987002	88987002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr4:88987002C>T	ENST00000508588.1	+	7	978	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	PKD2_ENST00000502363.1_Nonsense_Mutation_p.Q195*|PKD2_ENST00000237596.2_Nonsense_Mutation_p.Q777*|PKD2_ENST00000511337.1_3'UTR			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TGAACATCAGCAGATGAGAGA	0.443																																						uc003hre.2																			0				skin(1)	1						c.(2329-2331)CAG>TAG		polycystin 2							187.0	162.0	170.0					4																	88987002		2203	4300	6503	SO:0001587	stop_gained	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88987002C>T	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.583C>T	4.37:g.88987002C>T	ENSP00000427131:p.Gln195*					PKD2_uc011cdf.1_Nonsense_Mutation_p.Q195*|PKD2_uc011cdg.1_Nonsense_Mutation_p.Q103*|PKD2_uc011cdh.1_5'UTR	p.Q777*	NM_000297	NP_000288	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	12	2395	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	777			EF-hand.|EF-hand domain.|Cytoplasmic (Potential).		Q8TB08|Q9P0T6|Q9Y3X8	Nonsense_Mutation	SNP	ENST00000508588.1	37	c.2329C>T		.	.	.	.	.	.	.	.	.	.	C	41	8.553212	0.98861	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	.	.	.	5.74	5.74	0.90152	.	0.132116	0.53938	D	0.000056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-20.2877	14.7393	0.69440	0.1446:0.8554:0.0:0.0	.	.	.	.	X	777;195;195	.	ENSP00000237596:Q777X	Q	+	1	0	PKD2	89206026	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.538000	0.82048	2.715000	0.92844	0.655000	0.94253	CAG		0.443	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297	
TERT	7015	broad.mit.edu	37	5	1279521	1279521	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:1279521C>T	ENST00000310581.5	-	5	2072	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	TERT_ENST00000296820.5_Missense_Mutation_p.R672H|TERT_ENST00000508104.2_Missense_Mutation_p.R672H|TERT_ENST00000334602.6_Missense_Mutation_p.R672H	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	672	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)	p.R672H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GAGGCCGGGGCGCCGCGCCCG	0.697									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													uc003jcb.1																			1	Substitution - Missense(1)	p.R672H(1)	central_nervous_system(1)	lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12						c.(2014-2016)CGC>CAC		telomerase reverse transcriptase isoform 1							7.0	10.0	9.0					5																	1279521		2058	4069	6127	SO:0001583	missense	7015	TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1279521C>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2015G>A	5.37:g.1279521C>T	ENSP00000309572:p.Arg672His					TERT_uc003jbz.1_5'UTR|TERT_uc003jca.1_Missense_Mutation_p.R672H|TERT_uc003jcc.1_Missense_Mutation_p.R672H|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	p.R672H	NM_198253	NP_937983	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		5	2073	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		672			Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.2015G>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	0.300	-0.974398	0.02215	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.96745	-4.11;-4.06;-4.0;-4.06	4.67	2.51	0.30379	Reverse transcriptase (1);	0.380726	0.27841	N	0.017630	D	0.88020	0.6325	N	0.11845	0.185	0.09310	N	1	B;B;B	0.21688	0.059;0.027;0.035	B;B;B	0.14578	0.011;0.003;0.005	T	0.77159	-0.2690	10	0.25106	T	0.35	-11.6665	4.3039	0.10937	0.0:0.62:0.0:0.38	.	672;672;672	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	H	672	ENSP00000309572:R672H;ENSP00000296820:R672H;ENSP00000334346:R672H;ENSP00000426042:R672H	ENSP00000296820:R672H	R	-	2	0	TERT	1332521	0.000000	0.05858	0.015000	0.15790	0.009000	0.06853	0.132000	0.15891	0.933000	0.37291	0.313000	0.20887	CGC		0.697	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2		
ADAMTS16	170690	broad.mit.edu	37	5	5222920	5222920	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:5222920T>G	ENST00000274181.7	+	11	1762	c.1624T>G	c.(1624-1626)Tgg>Ggg	p.W542G	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.W542G	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	542	Disintegrin.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TAAAGCCCTGTGGTGCCATCG	0.358																																						uc003jdl.2																			0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(1624-1626)TGG>GGG		ADAM metallopeptidase with thrombospondin type 1							123.0	113.0	116.0					5																	5222920		1906	4130	6036	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5222920T>G	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1624T>G	5.37:g.5222920T>G	ENSP00000274181:p.Trp542Gly					ADAMTS16_uc003jdk.1_Missense_Mutation_p.W542G|ADAMTS16_uc003jdj.1_Missense_Mutation_p.W542G	p.W542G	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			11	1762	+			542			Disintegrin.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1624T>G	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041515	0.75732	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.67171	-0.18;-0.25	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.86871	0.6037	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.946;0.997;0.999	D	0.90709	0.4626	10	0.87932	D	0	.	14.6052	0.68472	0.0:0.0:0.0:1.0	.	542;542;542	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	G	542	ENSP00000274181:W542G;ENSP00000421631:W542G	ENSP00000274181:W542G	W	+	1	0	ADAMTS16	5275920	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.993000	0.76245	2.086000	0.62901	0.533000	0.62120	TGG		0.358	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
BASP1	10409	broad.mit.edu	37	5	17275820	17275820	+	Silent	SNP	C	C	T	rs370758278	byFrequency	TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:17275820C>T	ENST00000322611.3	+	2	755	c.495C>T	c.(493-495)gaC>gaT	p.D165D		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	165					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						CCAAAAGTGACGGGGCCCCAG	0.682													C|||	2	0.000399361	0.0	0.0	5008	,	,		9004	0.002		0.0	False		,,,				2504	0.0					uc003jfx.2																			0					0						c.(493-495)GAC>GAT		brain abundant, membrane attached signal protein							6.0	9.0	8.0					5																	17275820		2115	4182	6297	SO:0001819	synonymous_variant	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275820C>T	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.495C>T	5.37:g.17275820C>T							p.D165D	NM_006317	NP_006308	P80723	BASP1_HUMAN			2	674	+			165					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Silent	SNP	ENST00000322611.3	37	c.495C>T	CCDS3888.1																																																																																				0.682	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2		
FBN2	2201	broad.mit.edu	37	5	127728882	127728882	+	Missense_Mutation	SNP	C	C	T	rs138046782		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:127728882C>T	ENST00000508053.1	-	16	2385	c.1411G>A	c.(1411-1413)Gtt>Att	p.V471I	FBN2_ENST00000508989.1_Missense_Mutation_p.V438I|FBN2_ENST00000262464.4_Missense_Mutation_p.V471I			P35556	FBN2_HUMAN	fibrillin 2	471					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.V471I(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCTCCCCCAACGCCAGGAGAA	0.577																																						uc003kuu.2																			2	Substitution - Missense(2)		large_intestine(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(1411-1413)GTT>ATT		fibrillin 2 precursor		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	80.0	87.0	84.0		1411	3.8	1.0	5	dbSNP_134	84	0,8600		0,0,4300	no	missense	FBN2	NM_001999.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	471/2913	127728882	1,13005	2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127728882C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1411G>A	5.37:g.127728882C>T	ENSP00000424571:p.Val471Ile					FBN2_uc003kuv.2_Missense_Mutation_p.V438I	p.V471I	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	10	1850	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	471					B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1411G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	3.741	-0.053523	0.07362	2.27E-4	0.0	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.85773	-1.81;-1.81;-2.03	3.8	3.8	0.43715	.	0.131649	0.33515	N	0.004839	T	0.76730	0.4028	L	0.38175	1.15	0.30642	N	0.75632	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.71318	-0.4629	10	0.34782	T	0.22	.	10.6368	0.45569	0.0:0.9089:0.0:0.0911	.	438;471	D6RJI3;P35556	.;FBN2_HUMAN	I	471;471;438	ENSP00000262464:V471I;ENSP00000424571:V471I;ENSP00000425596:V438I	ENSP00000262464:V471I	V	-	1	0	FBN2	127756781	0.678000	0.27586	0.975000	0.42487	0.269000	0.26545	0.911000	0.28584	2.402000	0.81655	0.563000	0.77884	GTT		0.577	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
PCDHGA1	56114	broad.mit.edu	37	5	140711985	140711985	+	Silent	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:140711985G>A	ENST00000517417.1	+	1	1734	c.1734G>A	c.(1732-1734)gcG>gcA	p.A578A	PCDHGA1_ENST00000378105.3_Silent_p.A578A	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	578	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGCCCCTCTCCG	0.657																																						uc003lji.1																			0				ovary(1)|breast(1)|pancreas(1)	3						c.(1732-1734)GCG>GCA		protocadherin gamma subfamily A, 1 isoform 1							72.0	85.0	81.0					5																	140711985		2203	4300	6503	SO:0001819	synonymous_variant	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140711985G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1734G>A	5.37:g.140711985G>A						PCDHGA1_uc011dan.1_Silent_p.A578A	p.A578A	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1734	+			578			Extracellular (Potential).|Cadherin 6.		Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.1734G>A	CCDS54922.1																																																																																				0.657	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
SPINK6	404203	broad.mit.edu	37	5	147585617	147585617	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:147585617G>A	ENST00000325630.2	+	2	333	c.77G>A	c.(76-78)gGa>gAa	p.G26E		NM_001195290.1|NM_205841.3	NP_001182219.1|NP_995313.2	Q6UWN8	ISK6_HUMAN	serine peptidase inhibitor, Kazal type 6	26	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCAGGGAGGACAGGTCAGT	0.383																																						uc003lpa.2																			0				ovary(1)	1						c.(76-78)GGA>GAA		serine protease inhibitor, Kazal type 6							277.0	259.0	265.0					5																	147585617		2203	4300	6503	SO:0001583	missense	404203					extracellular region	serine-type endopeptidase inhibitor activity	g.chr5:147585617G>A	AY358716	CCDS34268.1	5q32	2011-08-31	2005-08-17		ENSG00000178172	ENSG00000178172		"""Serine peptidase inhibitors, Kazal type"""	29486	protein-coding gene	gene with protein product	"""protease inhibitor H"""	615868	"""serine protease inhibitor, Kazal type 6"""			15060002	Standard	NM_205841		Approved	MGC21394, UNQ844, BUSI2	uc021yff.1	Q6UWN8	OTTHUMG00000163425	ENST00000325630.2:c.77G>A	5.37:g.147585617G>A	ENSP00000324870:p.Gly26Glu						p.G26E	NM_205841	NP_995313	Q6UWN8	ISK6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	333	+			26			Kazal-like.		E0X656|Q8N5P0	Missense_Mutation	SNP	ENST00000325630.2	37	c.77G>A	CCDS34268.1	.	.	.	.	.	.	.	.	.	.	G	0.176	-1.066692	0.01934	.	.	ENSG00000178172	ENST00000514389;ENST00000325630	T;T	0.64618	0.61;-0.11	4.08	-4.72	0.03269	.	1.978000	0.02185	N	0.060875	T	0.43299	0.1241	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13495	-1.0507	9	0.51188	T	0.08	5.4416	1.2616	0.02002	0.4183:0.2519:0.1885:0.1413	.	26	Q6UWN8	ISK6_HUMAN	E	26	ENSP00000421119:G26E;ENSP00000324870:G26E	ENSP00000324870:G26E	G	+	2	0	SPINK6	147565810	0.001000	0.12720	0.001000	0.08648	0.064000	0.16182	-1.653000	0.01986	-1.118000	0.02961	-0.355000	0.07637	GGA		0.383	SPINK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373332.1	NM_205841	
GPR116	221395	broad.mit.edu	37	6	46826170	46826170	+	Missense_Mutation	SNP	G	G	A	rs141322343	byFrequency	TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr6:46826170G>A	ENST00000283296.7	-	17	3758	c.3470C>T	c.(3469-3471)aCg>aTg	p.T1157M	GPR116_ENST00000545669.1_Missense_Mutation_p.T586M|GPR116_ENST00000265417.7_Missense_Mutation_p.T1157M|GPR116_ENST00000456426.2_Missense_Mutation_p.T1015M|GPR116_ENST00000362015.4_Missense_Mutation_p.T1157M	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1157					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATTCTTCCTCGTATAGACTTC	0.557													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20065	0.001		0.0	False		,,,				2504	0.0				NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			0				central_nervous_system(1)|skin(1)	2						c.(3469-3471)ACG>ATG		G-protein coupled receptor 116 precursor		G	MET/THR,MET/THR	6,4400	9.9+/-24.2	0,6,2197	34.0	33.0	34.0		3470,3470	-0.9	0.1	6	dbSNP_134	34	0,8600		0,0,4300	no	missense,missense	GPR116	NM_001098518.1,NM_015234.4	81,81	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	benign,benign	1157/1347,1157/1347	46826170	6,13000	2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826170G>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3470C>T	6.37:g.46826170G>A	ENSP00000283296:p.Thr1157Met					GPR116_uc011dwj.1_Missense_Mutation_p.T712M|GPR116_uc011dwk.1_Missense_Mutation_p.T586M|GPR116_uc003oyp.3_Missense_Mutation_p.T1015M|GPR116_uc003oyq.3_Missense_Mutation_p.T1157M|GPR116_uc010jzi.1_Missense_Mutation_p.T829M	p.T1157M	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3759	-			1157			Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.3470C>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	5.605	0.296331	0.10622	0.001362	0.0	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.38	-0.857	0.10693	GPCR, family 2-like (1);	0.497913	0.19618	N	0.109971	T	0.10637	0.0260	N	0.16266	0.395	0.24200	N	0.995513	P;B;D;B;D	0.54207	0.525;0.231;0.965;0.407;0.965	B;B;B;B;B	0.42112	0.03;0.103;0.376;0.105;0.376	T	0.35375	-0.9791	10	0.32370	T	0.25	-1.0235	11.0946	0.48137	0.3961:0.0:0.6039:0.0	.	586;712;1157;1015;1157	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	M	1157;1157;1157;1015;528;1157;586	ENSP00000283296:T1157M;ENSP00000354563:T1157M;ENSP00000412866:T1015M;ENSP00000265417:T1157M;ENSP00000441581:T586M	ENSP00000265417:T1157M	T	-	2	0	GPR116	46934129	0.000000	0.05858	0.051000	0.19133	0.500000	0.33767	-0.217000	0.09253	-0.149000	0.11215	0.650000	0.86243	ACG		0.557	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	
EGFR	1956	broad.mit.edu	37	7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:55211080G>A	ENST00000275493.2	+	3	500	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_ENST00000420316.2_Missense_Mutation_p.R108K|EGFR_ENST00000455089.1_Missense_Mutation_p.R108K|EGFR_ENST00000454757.2_Missense_Mutation_p.R55K|EGFR_ENST00000344576.2_Missense_Mutation_p.R108K|EGFR_ENST00000442591.1_Missense_Mutation_p.R108K|EGFR_ENST00000342916.3_Missense_Mutation_p.R108K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	108			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R108K(6)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGATCATCAGAGGAAATATG	0.423		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		6	Substitution - Missense(6)	p.R108K(7)|p.V30_R297>G(5)	central_nervous_system(6)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(322-324)AGA>AAA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						118.0	119.0	119.0					7																	55211080		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55211080G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.323G>A	7.37:g.55211080G>A	ENSP00000275493:p.Arg108Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.R108K|EGFR_uc003tqi.2_Missense_Mutation_p.R108K|EGFR_uc003tqj.2_Missense_Mutation_p.R108K|EGFR_uc010kzg.1_Missense_Mutation_p.R108K|EGFR_uc011kco.1_Missense_Mutation_p.R55K	p.R108K	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		3	569	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		108			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.323G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513495	0.96402	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.31	5.31	0.75309	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.91422	0.7293	M	0.88570	2.965	0.58432	D	0.999998	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;0.999;1.0;0.99	D	0.92718	0.6189	10	0.87932	D	0	.	17.9014	0.88905	0.0:0.0:1.0:0.0	.	108;108;108;108;108	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	K	108;108;108;108;108;108;55;55	ENSP00000415559:R108K;ENSP00000342376:R108K;ENSP00000345973:R108K;ENSP00000413843:R108K;ENSP00000275493:R108K;ENSP00000410031:R108K;ENSP00000413354:R55K;ENSP00000395243:R55K	ENSP00000275493:R108K	R	+	2	0	EGFR	55178574	1.000000	0.71417	0.772000	0.31596	0.940000	0.58332	9.785000	0.99042	2.656000	0.90262	0.655000	0.94253	AGA		0.423	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	broad.mit.edu	37	7	55240690	55240690	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:55240690C>G	ENST00000275493.2	+	17	2111	c.1934C>G	c.(1933-1935)tCc>tGc	p.S645C	EGFR_ENST00000455089.1_Missense_Mutation_p.S600C|EGFR_ENST00000454757.2_Missense_Mutation_p.S592C|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	645					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAGATCCCGTCCATCGCCACT	0.612		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1933-1935)TCC>TGC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						95.0	81.0	86.0					7																	55240690		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55240690C>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1934C>G	7.37:g.55240690C>G	ENSP00000275493:p.Ser645Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.S600C|EGFR_uc011kco.1_Missense_Mutation_p.S592C	p.S645C	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		17	2180	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		645			Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1934C>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.239821	0.39598	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757;ENST00000533450	T;T;T	0.75477	-0.94;-0.94;-0.94	5.67	5.67	0.87782	.	0.197336	0.53938	D	0.000055	D	0.86577	0.5966	M	0.83953	2.67	0.45777	D	0.998665	D;D	0.76494	0.999;0.999	P;D	0.74023	0.873;0.982	D	0.85907	0.1438	10	0.38643	T	0.18	.	16.4727	0.84115	0.0:1.0:0.0:0.0	.	600;645	Q504U8;P00533	.;EGFR_HUMAN	C	600;515;645;592;439	ENSP00000415559:S600C;ENSP00000275493:S645C;ENSP00000395243:S592C	ENSP00000275493:S645C	S	+	2	0	EGFR	55208184	1.000000	0.71417	0.998000	0.56505	0.131000	0.20780	5.938000	0.70170	2.647000	0.89833	0.655000	0.94253	TCC		0.612	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
TYW1	55253	broad.mit.edu	37	7	66482862	66482862	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:66482862G>A	ENST00000359626.5	+	6	757	c.593G>A	c.(592-594)tGg>tAg	p.W198*		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	198	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GTTGACAAGTGGCTCTGGATG	0.512																																						uc003tvn.2																			0				skin(1)	1						c.(592-594)TGG>TAG		radical S-adenosyl methionine and flavodoxin							80.0	73.0	75.0					7																	66482862		2203	4300	6503	SO:0001587	stop_gained	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66482862G>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.593G>A	7.37:g.66482862G>A	ENSP00000352645:p.Trp198*					TYW1_uc010lai.2_RNA	p.W198*	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN			6	742	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	198			FMN (By similarity).|Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Nonsense_Mutation	SNP	ENST00000359626.5	37	c.593G>A	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759114	0.69763	.	.	ENSG00000198874	ENST00000359626;ENST00000442959	.	.	.	4.03	4.03	0.46877	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0157	0.64523	0.0:0.0:1.0:0.0	.	.	.	.	X	198;133	.	ENSP00000352645:W198X	W	+	2	0	TYW1	66120297	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	8.803000	0.91915	2.254000	0.74563	0.313000	0.20887	TGG		0.512	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264	
CD36	948	broad.mit.edu	37	7	80290463	80290463	+	Silent	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:80290463C>T	ENST00000435819.1	+	8	1050	c.366C>T	c.(364-366)ttC>ttT	p.F122F	CD36_ENST00000447544.2_Silent_p.F122F|CD36_ENST00000394788.3_Silent_p.F122F|CD36_ENST00000309881.7_Silent_p.F122F|CD36_ENST00000534394.1_Silent_p.F46F|CD36_ENST00000538969.1_Silent_p.F122F|CD36_ENST00000544133.1_Silent_p.F122F|CD36_ENST00000433696.2_Silent_p.F122F|CD36_ENST00000432207.1_Silent_p.F122F			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	122					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GTGCCATCTTCGAACCTTCAC	0.428																																						uc003uhc.2																			0				ovary(1)	1						c.(364-366)TTC>TTT		CD36 antigen							129.0	109.0	116.0					7																	80290463		2203	4300	6503	SO:0001819	synonymous_variant	948				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	g.chr7:80290463C>T	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.366C>T	7.37:g.80290463C>T						CD36_uc003uhd.3_Silent_p.F122F|CD36_uc011kgv.1_Silent_p.F46F|CD36_uc003uhe.3_Silent_p.F122F|CD36_uc003uhf.3_Silent_p.F122F|CD36_uc003uhg.3_Silent_p.F122F|CD36_uc003uhh.3_Silent_p.F122F	p.F122F	NM_001127444	NP_001120916	P16671	CD36_HUMAN			8	1050	+			122			Extracellular (Potential).		D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Silent	SNP	ENST00000435819.1	37	c.366C>T	CCDS34673.1																																																																																				0.428	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547	
SEMA3E	9723	broad.mit.edu	37	7	83034830	83034830	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:83034830delC	ENST00000307792.3	-	9	1401	c.934delG	c.(934-936)gttfs	p.V312fs	SEMA3E_ENST00000427262.1_Frame_Shift_Del_p.V252fs	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	312	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AGCAAAAAAACGTCCTCTGAA	0.313																																						uc003uhy.1																			0				ovary(3)	3						c.(934-936)GTTfs		semaphorin 3E precursor							94.0	96.0	95.0					7																	83034830		2203	4300	6503	SO:0001589	frameshift_variant	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83034830delC	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.934delG	7.37:g.83034830delC	ENSP00000303212:p.Val312fs						p.V312fs	NM_012431	NP_036563	O15041	SEM3E_HUMAN			9	1400	-		Medulloblastoma(109;0.109)	312			Sema.		B4E1P1|Q75M94|Q75M97	Frame_Shift_Del	DEL	ENST00000307792.3	37	c.934delG	CCDS34674.1																																																																																				0.313	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	
ANK1	286	broad.mit.edu	37	8	41521227	41521227	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr8:41521227C>T	ENST00000347528.4	-	40	5511	c.5428G>A	c.(5428-5430)Gtg>Atg	p.V1810M	ANK1_ENST00000522231.1_Missense_Mutation_p.V85M|ANK1_ENST00000289734.7_Missense_Mutation_p.V1810M|ANK1_ENST00000314214.8_Missense_Mutation_p.V85M|ANK1_ENST00000396942.1_Missense_Mutation_p.V1810M|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000352337.4_Missense_Mutation_p.V1810M|ANK1_ENST00000522543.1_Missense_Mutation_p.V85M|ANK1_ENST00000457297.1_Missense_Mutation_p.V85M|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000265709.8_Missense_Mutation_p.V1851M|ANK1_ENST00000396945.1_Intron|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000379758.2_Missense_Mutation_p.V1810M	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1810	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCTCTGTCACCTGCTCCCCT	0.537																																						uc003xok.2																			0				ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(5428-5430)GTG>ATG		ankyrin 1 isoform 1							202.0	148.0	166.0					8																	41521227		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41521227C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5428G>A	8.37:g.41521227C>T	ENSP00000339620:p.Val1810Met					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.V964M|ANK1_uc003xoi.2_Missense_Mutation_p.V1810M|ANK1_uc003xoj.2_Missense_Mutation_p.V1810M|ANK1_uc003xol.2_Missense_Mutation_p.V1648M|ANK1_uc003xom.2_Missense_Mutation_p.V1851M|ANK1_uc011lcl.1_Missense_Mutation_p.V85M|ANK1_uc003xod.2_Missense_Mutation_p.V85M|ANK1_uc003xoc.2_Missense_Mutation_p.V85M|ANK1_uc003xof.2_Missense_Mutation_p.V85M	p.V1810M	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		40	5512	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1810			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.5428G>A	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.738098|4.738098	0.89573|0.89573	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000457297;ENST00000396942;ENST00000352337;ENST00000522231;ENST00000522543;ENST00000314214;ENST00000265709;ENST00000348036;ENST00000335651	.|T;T;T;T;T;D;D;D;T	.|0.92911	.|-1.29;-1.29;-1.25;-1.28;-1.14;-2.62;-3.13;-3.12;-1.18	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95765|0.95765	0.8622|0.8622	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D;D;P;B;D;D;D;D;D	.|0.89917	.|0.999;0.971;1.0;0.916;0.432;0.987;0.999;0.999;1.0;0.997	.|D;P;D;P;B;P;D;D;D;D	.|0.97110	.|1.0;0.866;0.997;0.448;0.299;0.902;0.997;0.998;1.0;0.959	D|D	0.95485|0.95485	0.8564|0.8564	5|10	.|0.72032	.|D	.|0.01	.|.	19.1573|19.1573	0.93516|0.93516	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|85;1851;1648;1810;1810;1810;964;85;85;85	.|Q6PK32;P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39;A0PJN8;Q53ER1;E5RFL7	.|.;.;.;ANK1_HUMAN;.;.;.;.;.;.	D|M	969|1810;1810;1810;85;1810;1810;85;85;85;1851;85;85	.|ENSP00000339620:V1810M;ENSP00000289734:V1810M;ENSP00000369082:V1810M;ENSP00000380147:V1810M;ENSP00000309131:V1810M;ENSP00000428750:V85M;ENSP00000430368:V85M;ENSP00000319123:V85M;ENSP00000265709:V1851M	.|ENSP00000265709:V1851M	G|V	-|-	2|1	0|0	ANK1|ANK1	41640384|41640384	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.369000|5.369000	0.66138|0.66138	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GGT|GTG		0.537	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
RP1	6101	broad.mit.edu	37	8	55537454	55537454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr8:55537454C>T	ENST00000220676.1	+	4	1160	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	338					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATGAAAGTTCGATTCAGAAT	0.328																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			0				skin(7)|ovary(4)|pancreas(1)	12						c.(1012-1014)CGA>TGA		retinitis pigmentosa RP1 protein							68.0	67.0	67.0					8																	55537454		2203	4300	6503	SO:0001587	stop_gained	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537454C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1012C>T	8.37:g.55537454C>T	ENSP00000220676:p.Arg338*					RP1_uc011ldy.1_Intron	p.R338*	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1160	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	338						Nonsense_Mutation	SNP	ENST00000220676.1	37	c.1012C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	37	6.509009	0.97624	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.08	4.19	0.49359	.	0.148426	0.31577	N	0.007406	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8105	0.69992	0.1453:0.8547:0.0:0.0	.	.	.	.	X	338	.	ENSP00000220676:R338X	R	+	1	2	RP1	55700007	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.954000	0.63631	1.111000	0.41721	0.655000	0.94253	CGA		0.328	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
SLCO5A1	81796	broad.mit.edu	37	8	70650427	70650427	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr8:70650427G>T	ENST00000260126.4	-	5	1977	c.1271C>A	c.(1270-1272)gCa>gAa	p.A424E	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.A424E|SLCO5A1_ENST00000530307.1_Intron	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	424						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCTGACAGCTGCTCTTGGTAG	0.348																																						uc003xyl.2																			0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1270-1272)GCA>GAA		solute carrier organic anion transporter family,							123.0	115.0	118.0					8																	70650427		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70650427G>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1271C>A	8.37:g.70650427G>T	ENSP00000260126:p.Ala424Glu					SLCO5A1_uc010lzb.2_Intron|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.A424E|SLCO5A1_uc010lzc.2_Intron	p.A424E	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		5	1978	-	Breast(64;0.0654)		424			Cytoplasmic (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1271C>A	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961042	0.92791	.	.	ENSG00000137571	ENST00000260126;ENST00000524945	T;T	0.40756	1.02;1.02	5.81	5.81	0.92471	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.72887	-0.4156	10	0.72032	D	0.01	.	20.0784	0.97758	0.0:0.0:1.0:0.0	.	424;424	Q9H2Y9;G3V1C0	SO5A1_HUMAN;.	E	424	ENSP00000260126:A424E;ENSP00000434422:A424E	ENSP00000260126:A424E	A	-	2	0	SLCO5A1	70812981	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.863000	0.99569	2.736000	0.93811	0.655000	0.94253	GCA		0.348	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958	
KLF10	7071	broad.mit.edu	37	8	103662460	103662460	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr8:103662460G>A	ENST00000285407.6	-	4	1643	c.1343C>T	c.(1342-1344)gCc>gTc	p.A448V	KLF10_ENST00000395884.3_Missense_Mutation_p.A437V	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	448					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			ATGGCGCCGGGCATGCTTGGT	0.542																																					Esophageal Squamous(16;495 519 2144 16528 44005)	uc011lhk.1																			0					0						c.(1342-1344)GCC>GTC		Kruppel-like factor 10 isoform a							164.0	141.0	149.0					8																	103662460		2203	4300	6503	SO:0001583	missense	7071				cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:103662460G>A	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.1343C>T	8.37:g.103662460G>A	ENSP00000285407:p.Ala448Val					KLF10_uc011lhj.1_Missense_Mutation_p.A437V	p.A448V	NM_005655	NP_005646	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		4	1497	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		448			C2H2-type 3.		A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	ENST00000285407.6	37	c.1343C>T	CCDS6294.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444126	0.83993	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.69040	-0.37;-0.37	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	T	0.65450	0.2692	M	0.65498	2.005	0.80722	D	1	B;D	0.53885	0.406;0.963	B;B	0.43386	0.106;0.418	T	0.65717	-0.6100	10	0.05436	T	0.98	.	20.04	0.97581	0.0:0.0:1.0:0.0	.	448;437	Q13118;O75411	KLF10_HUMAN;.	V	448;437	ENSP00000285407:A448V;ENSP00000379222:A437V	ENSP00000285407:A448V	A	-	2	0	KLF10	103731636	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.030000	0.88816	2.733000	0.93635	0.655000	0.94253	GCC		0.542	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1		
HEMGN	55363	broad.mit.edu	37	9	100698486	100698486	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr9:100698486A>G	ENST00000259456.3	-	3	283	c.140T>C	c.(139-141)gTg>gCg	p.V47A		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	47	Necessary for nuclear localization.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CTTTTCATGCACTTCAGCTTT	0.348																																						uc004axy.2																			0				ovary(1)	1						c.(139-141)GTG>GCG		hemogen							301.0	251.0	268.0					9																	100698486		2202	4300	6502	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100698486A>G	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.140T>C	9.37:g.100698486A>G	ENSP00000259456:p.Val47Ala					HEMGN_uc004axz.2_Missense_Mutation_p.V47A	p.V47A	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN			2	248	-		Acute lymphoblastic leukemia(62;0.0559)	47			Necessary for nuclear localization.		Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.140T>C	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.521573	0.00967	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	5.63	3.78	0.43462	.	0.353820	0.27797	N	0.017812	T	0.13586	0.0329	N	0.04063	-0.285	0.23727	N	0.997001	B	0.02656	0.0	B	0.01281	0.0	T	0.31806	-0.9930	9	0.02654	T	1	-10.6081	8.6285	0.33904	0.1698:0.0:0.8302:0.0	.	47	Q9BXL5	HEMGN_HUMAN	A	47	.	ENSP00000259456:V47A	V	-	2	0	HEMGN	99738307	0.531000	0.26338	0.985000	0.45067	0.057000	0.15508	0.526000	0.22971	0.840000	0.34995	-0.912000	0.02778	GTG		0.348	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978	
CNKSR2	22866	broad.mit.edu	37	X	21450738	21450739	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:21450738_21450739insT	ENST00000379510.3	+	3	273_274	c.237_238insT	c.(238-240)ttgfs	p.L80fs	CNKSR2_ENST00000425654.2_Frame_Shift_Ins_p.L80fs|CNKSR2_ENST00000543067.1_Frame_Shift_Ins_p.L80fs|CNKSR2_ENST00000279451.4_Frame_Shift_Ins_p.L80fs	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	80					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGAATTATGGCTTGGAAACAGA	0.307																																						uc004czx.1																			0				large_intestine(1)|lung(1)	2						c.(235-240)GGCTTGfs		connector enhancer of kinase suppressor of Ras																																				SO:0001589	frameshift_variant	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21450738_21450739insT	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.239dupT	X.37:g.21450740_21450740dupT	ENSP00000368824:p.Leu80fs					CNKSR2_uc004czw.2_Frame_Shift_Ins_p.G79fs|CNKSR2_uc011mjn.1_Frame_Shift_Ins_p.G79fs|CNKSR2_uc011mjo.1_Frame_Shift_Ins_p.G79fs	p.G79fs	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			3	273_274	+			79_80					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Frame_Shift_Ins	INS	ENST00000379510.3	37	c.237_238insT	CCDS14198.1																																																																																				0.307	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	
SMC1A	8243	broad.mit.edu	37	X	53430549	53430549	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:53430549C>T	ENST00000322213.4	-	15	2496	c.2369G>A	c.(2368-2370)cGg>cAg	p.R790Q		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	790			R -> Q (in CDLS2). {ECO:0000269|PubMed:17273969, ECO:0000269|PubMed:19701948}.		DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.R790Q(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTCAAACTCCCGGATGTTGCG	0.517																																						uc004dsg.2																			2	Substitution - Missense(2)		central_nervous_system(2)	ovary(5)|central_nervous_system(1)	6	GRCh37	CM071099	SMC1A	M		c.(2368-2370)CGG>CAG		structural maintenance of chromosomes 1A							173.0	138.0	150.0					X																	53430549		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53430549C>T	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2369G>A	X.37:g.53430549C>T	ENSP00000323421:p.Arg790Gln					SMC1A_uc011moe.1_Missense_Mutation_p.R768Q	p.R790Q	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			15	2438	-			790		R -> Q (in CDLS2).	Potential.		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.2369G>A	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	35	5.559366	0.96514	.	.	ENSG00000072501	ENST00000322213	T	0.78246	-1.16	4.58	4.58	0.56647	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.89781	0.6814	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.91736	0.5400	10	0.62326	D	0.03	.	15.6293	0.76888	0.0:1.0:0.0:0.0	.	768;790	Q6MZR8;Q14683	.;SMC1A_HUMAN	Q	790	ENSP00000323421:R790Q	ENSP00000323421:R790Q	R	-	2	0	SMC1A	53447274	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.609000	0.67661	2.290000	0.77057	0.523000	0.50628	CGG		0.517	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306	
SMC1A	8243	broad.mit.edu	37	X	53438785	53438785	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:53438785C>T	ENST00000322213.4	-	7	1307	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	SMC1A_ENST00000375340.6_Missense_Mutation_p.E160K	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	394					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTGAATTTCTCCAGCTCCTGG	0.498																																						uc004dsg.2																			0				ovary(5)|central_nervous_system(1)	6						c.(1180-1182)GAG>AAG		structural maintenance of chromosomes 1A							154.0	133.0	140.0					X																	53438785		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53438785C>T	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1180G>A	X.37:g.53438785C>T	ENSP00000323421:p.Glu394Lys					SMC1A_uc011moe.1_Missense_Mutation_p.E372K|SMC1A_uc011mof.1_Missense_Mutation_p.E160K	p.E394K	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			7	1249	-			394			Potential.		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.1180G>A	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623736	0.87460	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	T;T	0.79247	-1.25;3.3	4.75	4.75	0.60458	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.77322	0.4113	L	0.46670	1.46	0.80722	D	1	B;P;P	0.45348	0.046;0.551;0.856	B;B;P	0.46718	0.19;0.334;0.525	T	0.79420	-0.1811	10	0.51188	T	0.08	.	15.9469	0.79802	0.0:1.0:0.0:0.0	.	160;372;394	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	K	394;160	ENSP00000323421:E394K;ENSP00000364489:E160K	ENSP00000323421:E394K	E	-	1	0	SMC1A	53455510	1.000000	0.71417	0.995000	0.50966	0.942000	0.58702	7.518000	0.81795	2.099000	0.63709	0.600000	0.82982	GAG		0.498	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306	
FRMD7	90167	broad.mit.edu	37	X	131212246	131212246	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:131212246C>T	ENST00000298542.4	-	12	1974	c.1799G>A	c.(1798-1800)cGt>cAt	p.R600H	FRMD7_ENST00000464296.1_Missense_Mutation_p.R585H|FRMD7_ENST00000370879.1_Missense_Mutation_p.R480H	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	600					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AAAAGGAAAACGAATAGTTTT	0.428																																						uc004ewn.2																			0				skin(1)	1						c.(1798-1800)CGT>CAT		FERM domain containing 7							96.0	87.0	90.0					X																	131212246		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212246C>T	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1799G>A	X.37:g.131212246C>T	ENSP00000298542:p.Arg600His					FRMD7_uc011muy.1_Missense_Mutation_p.R585H	p.R600H	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			12	1977	-	Acute lymphoblastic leukemia(192;0.000127)		600					C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.1799G>A	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	9.023	0.985480	0.18889	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.88509	-2.39;-2.03;-2.13	5.57	3.8	0.43715	.	0.360366	0.27725	N	0.018106	D	0.87493	0.6191	M	0.68593	2.085	0.20196	N	0.99992	B;B	0.23442	0.085;0.007	B;B	0.17433	0.018;0.004	T	0.75872	-0.3164	10	0.54805	T	0.06	.	14.6301	0.68650	0.0:0.8638:0.0:0.1362	.	585;600	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	H	480;600;585	ENSP00000359916:R480H;ENSP00000298542:R600H;ENSP00000417996:R585H	ENSP00000298542:R600H	R	-	2	0	FRMD7	131039927	1.000000	0.71417	0.637000	0.29366	0.619000	0.37552	0.868000	0.27982	0.182000	0.20032	-0.923000	0.02734	CGT		0.428	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277	
MAP7D3	79649	broad.mit.edu	37	X	135301831	135301831	+	Splice_Site	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:135301831C>T	ENST00000316077.9	-	17	2707		c.e17-1		MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370663.5_Splice_Site|MAP7D3_ENST00000370661.1_Splice_Site	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3						microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GGAAGATGGTCTGGAAAGAGA	0.418																																						uc004ezt.2																			0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.e17-1		MAP7 domain containing 3							194.0	173.0	180.0					X																	135301831		1922	4110	6032	SO:0001630	splice_region_variant	79649					cytoplasm|spindle		g.chrX:135301831C>T	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.2487-1G>A	X.37:g.135301831C>T						MAP7D3_uc004ezs.2_Splice_Site_p.R793_splice|MAP7D3_uc011mwc.1_Splice_Site_p.R811_splice|MAP7D3_uc010nsa.1_Intron	p.R829_splice	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN			17	2578	-	Acute lymphoblastic leukemia(192;0.000127)							A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Splice_Site	SNP	ENST00000316077.9	37	c.2487_splice	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.687624	0.68157	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	.	.	.	4.14	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8287	0.46649	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP7D3	135129497	0.973000	0.33851	0.892000	0.35008	0.738000	0.42128	3.018000	0.49625	2.319000	0.78375	0.523000	0.50628	.		0.418	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2		Intron
AFF2	2334	broad.mit.edu	37	X	148038125	148038125	+	Silent	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:148038125G>A	ENST00000370460.2	+	11	3029	c.2550G>A	c.(2548-2550)aaG>aaA	p.K850K	AFF2_ENST00000370457.5_Silent_p.K817K|AFF2_ENST00000286437.5_Silent_p.K491K|AFF2_ENST00000342251.3_Silent_p.K817K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	850					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCCCTAAGGGCAAACGTA	0.517																																						uc004fcp.2																			0				ovary(3)|pancreas(2)	5						c.(2548-2550)AAG>AAA		fragile X mental retardation 2							64.0	64.0	64.0					X																	148038125		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148038125G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2550G>A	X.37:g.148038125G>A						AFF2_uc004fcq.2_Silent_p.K840K|AFF2_uc004fcr.2_Silent_p.K811K|AFF2_uc011mxb.1_Silent_p.K815K|AFF2_uc004fcs.2_Silent_p.K817K|AFF2_uc011mxc.1_Silent_p.K491K	p.K850K	NM_002025	NP_002016	P51816	AFF2_HUMAN			11	3029	+	Acute lymphoblastic leukemia(192;6.56e-05)		850					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.2550G>A	CCDS14684.1																																																																																				0.517	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	RNA	SNP	T	T	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:155252868T>A	ENST00000461007.1	+	0	1876				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632																																						uc004fnw.1																			5	Substitution - coding silent(5)		kidney(3)|endometrium(2)								c.(910-912)CCT>CCA		WAS protein family homolog 1																																						0							g.chrX:155252868T>A	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155252868T>A						uc004fnx.3_Silent_p.P90P	p.P304P	NM_182905	NP_878908					6	1571	+								A6NGF1|Q8N305	Silent	SNP	ENST00000461007.1	37	c.912T>A																																																																																					0.632	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380	
