#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
XIRP2	129446	broad.mit.edu	37	2	168105298	168105298	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:168105298G>A	ENST00000409195.1	+	9	7485	c.7396G>A	c.(7396-7398)Gta>Ata	p.V2466I	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2244I|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V2466I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2291					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCAGAAAAAAGTAATGGTGAT	0.363																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(7396-7398)Gta>Ata		xin actin-binding repeat containing 2							81.0	79.0	79.0					2																	168105298		1890	4136	6026	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105298G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7396G>A	2.37:g.168105298G>A	ENSP00000386840:p.Val2466Ile					XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V2466I|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2244I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	p.V2466I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	7485	+			2291					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7396G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	3.021	-0.201680	0.06219	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02579	4.24;4.24;4.25	5.85	-1.89	0.07689	.	0.924071	0.09174	N	0.838383	T	0.03220	0.0094	L	0.54323	1.7	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.003	B;B;B	0.10450	0.002;0.005;0.005	T	0.43491	-0.9388	10	0.35671	T	0.21	0.0373	4.5803	0.12255	0.2466:0.0:0.4046:0.3488	.	2291;2291;2244	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	I	2466;2466;2244	ENSP00000386840:V2466I;ENSP00000295237:V2466I;ENSP00000387255:V2244I	ENSP00000295237:V2466I	V	+	1	0	XIRP2	167813544	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	0.441000	0.21611	-0.338000	0.08413	-0.148000	0.13756	GTA		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		6	68	0	0	0	1	0	6	68				
RYR3	6263	broad.mit.edu	37	15	34105190	34105190	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:34105190G>A	ENST00000389232.4	+	73	10454	c.10384G>A	c.(10384-10386)Gaa>Aaa	p.E3462K	RYR3_ENST00000415757.3_Missense_Mutation_p.E3457K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3462					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTTCCACCTGGAACAGGTAAG	0.507																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(10384-10386)Gaa>Aaa		ryanodine receptor 3							70.0	70.0	70.0					15																	34105190		1967	4151	6118	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34105190G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10384G>A	15.37:g.34105190G>A	ENSP00000373884:p.Glu3462Lys					RYR3_ENST00000415757.3_Missense_Mutation_p.E3457K	p.E3462K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	73	10454	+		all_lung(180;7.18e-09)	3462					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.10384G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203898	0.79127	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.96554	-4.05	4.69	4.69	0.59074	.	0.160561	0.47093	D	0.000252	D	0.94430	0.8208	L	0.58810	1.83	0.58432	D	0.99999	P;B	0.35272	0.493;0.325	B;B	0.28991	0.053;0.097	D	0.94463	0.7678	10	0.54805	T	0.06	.	18.1742	0.89756	0.0:0.0:1.0:0.0	.	3457;3462	Q15413-2;Q15413	.;RYR3_HUMAN	K	3462;3462;3457	ENSP00000373884:E3462K	ENSP00000354735:E3457K	E	+	1	0	RYR3	31892482	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.601000	0.98297	2.581000	0.87130	0.655000	0.94253	GAA		0.507	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	63	0	0	0	1	0	7	63				
TMEM252	169693	broad.mit.edu	37	9	71152389	71152389	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr9:71152389G>T	ENST00000377311.3	-	2	351	c.299C>A	c.(298-300)gCt>gAt	p.A100D		NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	100						integral component of membrane (GO:0016021)											CTCTTCATAAGCTGGAGGGTA	0.512																																						ENST00000377311.3																			0											c.(298-300)gCt>gAt		transmembrane protein 252							49.0	49.0	49.0					9																	71152389		2203	4300	6503	SO:0001583	missense	169693							g.chr9:71152389G>T	BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 71"""	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.299C>A	9.37:g.71152389G>T	ENSP00000366528:p.Ala100Asp						p.A100D	NM_153237.1	NP_694969.1					2	351	-									Missense_Mutation	SNP	ENST00000377311.3	37	c.299C>A	CCDS35040.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813868	0.90790	.	.	ENSG00000181778	ENST00000377311	.	.	.	5.96	5.96	0.96718	.	0.145914	0.48767	D	0.000180	T	0.78432	0.4282	M	0.67953	2.075	0.46113	D	0.998876	D	0.69078	0.997	D	0.68192	0.956	T	0.78760	-0.2078	9	0.72032	D	0.01	-13.3411	19.1722	0.93583	0.0:0.0:1.0:0.0	.	100	Q8N6L7	CI071_HUMAN	D	100	.	ENSP00000366528:A100D	A	-	2	0	C9orf71	70342209	0.999000	0.42202	0.997000	0.53966	0.928000	0.56348	2.664000	0.46783	2.826000	0.97356	0.655000	0.94253	GCT		0.512	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052551.1	NM_153237		5	35	1	0	2.0095e-06	1	2.05911e-06	5	35				
TUBA3E	112714	broad.mit.edu	37	2	130951871	130951871	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:130951871C>T	ENST00000312988.7	-	4	644	c.544G>A	c.(544-546)Gtg>Atg	p.V182M		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	182					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TAGGGCTCCACCACGGCTGTG	0.542																																						ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(544-546)Gtg>Atg		tubulin, alpha 3e							94.0	100.0	98.0					2																	130951871		2192	4260	6452	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951871C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.544G>A	2.37:g.130951871C>T	ENSP00000318197:p.Val182Met						p.V182M	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			4	644	-	Colorectal(110;0.1)		182						Missense_Mutation	SNP	ENST00000312988.7	37	c.544G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	13.70	2.316808	0.40996	.	.	ENSG00000152086	ENST00000312988	T	0.73152	-0.72	2.44	2.44	0.29823	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.44902	U	0.000416	D	0.89729	0.6799	H	0.99726	4.73	0.46044	D	0.998831	D	0.58620	0.983	D	0.69142	0.962	D	0.91640	0.5326	10	0.87932	D	0	.	10.5954	0.45333	0.0:1.0:0.0:0.0	.	182	Q6PEY2	TBA3E_HUMAN	M	182	ENSP00000318197:V182M	ENSP00000318197:V182M	V	-	1	0	TUBA3E	130668341	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.589000	0.74080	1.373000	0.46208	0.298000	0.19748	GTG		0.542	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		10	35	0	0	0	1	0	10	35				
CLCC1	23155	broad.mit.edu	37	1	109477475	109477475	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:109477475G>C	ENST00000369971.2	-	11	1602	c.1473C>G	c.(1471-1473)agC>agG	p.S491R	CLCC1_ENST00000369969.2_Missense_Mutation_p.S370R|CLCC1_ENST00000369970.3_Missense_Mutation_p.S441R|CLCC1_ENST00000415331.1_Missense_Mutation_p.S441R|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369968.2_Missense_Mutation_p.S306R|CLCC1_ENST00000302500.4_Missense_Mutation_p.S370R|CLCC1_ENST00000356970.2_Missense_Mutation_p.S491R|CLCC1_ENST00000369976.1_Intron|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000348264.2_Missense_Mutation_p.S306R	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	491						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		TGGCCGACTGGCTGCTTTCAG	0.532																																						ENST00000369971.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14						c.(1471-1473)agC>agG		chloride channel CLIC-like 1							107.0	96.0	100.0					1																	109477475		2203	4300	6503	SO:0001583	missense	23155					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus		g.chr1:109477475G>C	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1473C>G	1.37:g.109477475G>C	ENSP00000358988:p.Ser491Arg					CLCC1_ENST00000302500.4_Missense_Mutation_p.S370R|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000415331.1_Missense_Mutation_p.S441R|CLCC1_ENST00000369968.2_Missense_Mutation_p.S306R|CLCC1_ENST00000369969.2_Missense_Mutation_p.S370R|CLCC1_ENST00000369970.3_Missense_Mutation_p.S441R|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.S491R|CLCC1_ENST00000348264.2_Missense_Mutation_p.S306R	p.S491R	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	11	1602	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	491					O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	ENST00000369971.2	37	c.1473C>G	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147656	0.57151	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.93	5.03	0.67393	.	0.272853	0.32401	N	0.006146	T	0.26048	0.0635	L	0.36672	1.1	0.09310	N	1	P;P;B;B	0.47677	0.859;0.899;0.082;0.059	B;P;B;B	0.45232	0.36;0.474;0.058;0.037	T	0.06935	-1.0799	10	0.52906	T	0.07	-2.979	11.0382	0.47814	0.0844:0.0:0.9156:0.0	.	306;370;441;491	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	R	491;491;441;370;306;441;306;370	ENSP00000349456:S491R;ENSP00000358988:S491R;ENSP00000411591:S441R;ENSP00000358986:S370R;ENSP00000358985:S306R;ENSP00000358987:S441R;ENSP00000337243:S306R;ENSP00000306552:S370R	ENSP00000306552:S370R	S	-	3	2	CLCC1	109278998	0.279000	0.24239	0.085000	0.20634	0.507000	0.33981	2.124000	0.42006	1.536000	0.49237	0.655000	0.94253	AGC		0.532	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		29	74	0	0	0	1	0	29	74				
TUBA3D	113457	broad.mit.edu	37	2	132237810	132237810	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:132237810G>A	ENST00000321253.6	+	4	651	c.544G>A	c.(544-546)Gtg>Atg	p.V182M	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	182					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CACAGCCGTGGTGGAGCCCTA	0.552																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(544-546)Gtg>Atg		tubulin, alpha 3d							142.0	157.0	152.0					2																	132237810		2202	4299	6501	SO:0001583	missense	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132237810G>A	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.544G>A	2.37:g.132237810G>A	ENSP00000326042:p.Val182Met					TUBA3D_ENST00000409047.2_3'UTR	p.V182M	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	651	+			182					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	c.544G>A	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	12.19	1.864532	0.32977	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.73152	-0.72	2.24	2.24	0.28232	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.41294	U	0.000917	D	0.89403	0.6705	H	0.99379	4.54	0.45366	D	0.998351	D	0.76494	0.999	D	0.74674	0.984	D	0.90941	0.4797	10	0.87932	D	0	.	10.1507	0.42791	0.0:0.0:1.0:0.0	.	182	Q13748	TBA3C_HUMAN	M	182	ENSP00000326042:V182M	ENSP00000326042:V182M	V	+	1	0	TUBA3D	131954280	1.000000	0.71417	0.999000	0.59377	0.699000	0.40488	8.217000	0.89766	1.243000	0.43853	0.194000	0.17425	GTG		0.552	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		27	304	0	0	0	1	0	27	304				
GPR176	11245	broad.mit.edu	37	15	40093625	40093625	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:40093625G>A	ENST00000561100.1	-	3	2121	c.1256C>T	c.(1255-1257)gCg>gTg	p.A419V	GPR176_ENST00000560729.1_5'Flank|GPR176_ENST00000299092.3_Missense_Mutation_p.A418V|GPR176_ENST00000543580.1_Missense_Mutation_p.A374V|RP11-37C7.1_ENST00000558616.1_RNA	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	419					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GGCAGAGGGCGCAAACTGTGG	0.577																																						ENST00000299092.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23						c.(1252-1254)gCg>gTg		G protein-coupled receptor 176							140.0	137.0	138.0					15																	40093625		2203	4300	6503	SO:0001583	missense	11245				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr15:40093625G>A	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.1256C>T	15.37:g.40093625G>A	ENSP00000453076:p.Ala419Val					GPR176_ENST00000561100.1_Missense_Mutation_p.A419V|GPR176_ENST00000543580.1_Missense_Mutation_p.A374V	p.A418V	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	4	1451	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	419					Q6NXF6	Missense_Mutation	SNP	ENST00000561100.1	37	c.1253C>T	CCDS10051.1	.	.	.	.	.	.	.	.	.	.	G	0.833	-0.744502	0.03065	.	.	ENSG00000166073	ENST00000299092;ENST00000543580	T	0.79141	-1.24	5.95	-1.57	0.08506	.	1.400100	0.04030	N	0.301258	T	0.64136	0.2571	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.43589	-0.9382	10	0.26408	T	0.33	-0.0271	8.3264	0.32160	0.3111:0.1057:0.5832:0.0	.	419	Q14439	GP176_HUMAN	V	419;374	ENSP00000439361:A374V	ENSP00000299092:A419V	A	-	2	0	GPR176	37880917	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.381000	0.07417	-0.876000	0.04017	-2.048000	0.00412	GCG		0.577	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223		4	142	0	0	0	1	0	4	142				
MANEA	79694	broad.mit.edu	37	6	96034901	96034901	+	Intron	SNP	A	A	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:96034901A>G	ENST00000358812.4	+	2	678				MANEA_ENST00000369293.1_Missense_Mutation_p.I196V	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha						cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		gtgtctgtatatatgcatatA	0.279																																						ENST00000369293.1																			0				breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(586-588)Ata>Gta		mannosidase, endo-alpha							13.0	15.0	15.0					6																	96034901		1633	3131	4764	SO:0001627	intron_variant	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96034901A>G	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.544+42A>G	6.37:g.96034901A>G						MANEA_ENST00000358812.4_Intron	p.I196V			Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	2	720	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	0			Catalytic (Probable).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.586A>G	CCDS5032.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.893|5.893	0.348841|0.348841	0.11126|0.11126	.|.	.|.	ENSG00000172469|ENSG00000172469	ENST00000369293|ENST00000542500	.|.	.|.	.|.	3.77|3.77	-1.75|-1.75	0.08031|0.08031	.|.	.|.	.|.	.|.	.|.	T|T	0.25419|0.25419	0.0618|0.0618	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.40308|0.40308	-0.9570|-0.9570	5|5	0.07813|0.87932	T|D	0.8|0	.|.	9.836|9.836	0.40968|0.40968	0.3637:0.0:0.6363:0.0|0.3637:0.0:0.6363:0.0	.|.	.|.	.|.	.|.	V|C	196|195	.|.	ENSP00000358299:I196V|ENSP00000439775:Y195C	I|Y	+|+	1|2	0|0	MANEA|MANEA	96141622|96141622	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.013000|0.013000	0.08279|0.08279	0.133000|0.133000	0.15912|0.15912	-0.299000|-0.299000	0.08909|0.08909	0.454000|0.454000	0.30748|0.30748	ATA|TAT		0.279	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		11	29	0	0	0	1	0	11	29				
PCDHGA12	26025	broad.mit.edu	37	5	140812419	140812419	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:140812419C>A	ENST00000252085.3	+	1	2235	c.2093C>A	c.(2092-2094)gCc>gAc	p.A698D	PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	698					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGCGGTGGCCGCGGTCTCC	0.652																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(2092-2094)gCc>gAc									83.0	95.0	91.0					5																	140812419		2203	4298	6501	SO:0001583	missense	26025							g.chr5:140812419C>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2093C>A	5.37:g.140812419C>A	ENSP00000252085:p.Ala698Asp					PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron	p.A698D	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2235	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.2093C>A	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	23.9	4.466379	0.84425	.	.	ENSG00000253159	ENST00000252085	T	0.39056	1.1	5.1	5.1	0.69264	.	.	.	.	.	T	0.78033	0.4220	H	0.97291	3.975	0.32239	N	0.572972	D;D	0.76494	0.999;0.998	D;D	0.76575	0.988;0.963	D	0.86920	0.2066	9	0.87932	D	0	.	18.4762	0.90793	0.0:1.0:0.0:0.0	.	698;698	O60330-2;O60330	.;PCDGC_HUMAN	D	698	ENSP00000252085:A698D	ENSP00000252085:A698D	A	+	2	0	PCDHGA12	140792603	0.698000	0.27777	0.572000	0.28498	0.042000	0.13812	1.392000	0.34486	2.519000	0.84933	0.561000	0.74099	GCC		0.652	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		58	208	1	0	7.22619e-39	1	7.89176e-39	58	208				
CCNF	899	broad.mit.edu	37	16	2483041	2483041	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr16:2483041C>T	ENST00000397066.4	+	3	339	c.251C>T	c.(250-252)tCt>tTt	p.S84F		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	84					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CTGTGGCCGTCTCCAGGGAAC	0.592																																						ENST00000397066.4																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(250-252)tCt>tTt		cyclin F							73.0	67.0	69.0					16																	2483041		2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2483041C>T	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.251C>T	16.37:g.2483041C>T	ENSP00000380256:p.Ser84Phe						p.S84F	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			3	339	+		Ovarian(90;0.17)	84					B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.251C>T	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960391	0.92791	.	.	ENSG00000162063	ENST00000397066	T	0.22539	1.95	5.22	5.22	0.72569	F-box domain, Skp2-like (1);	0.052221	0.85682	D	0.000000	T	0.47340	0.1440	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.47195	-0.9136	10	0.87932	D	0	-17.0302	17.7365	0.88395	0.0:1.0:0.0:0.0	.	84	P41002	CCNF_HUMAN	F	84	ENSP00000380256:S84F	ENSP00000380256:S84F	S	+	2	0	CCNF	2423042	1.000000	0.71417	0.993000	0.49108	0.947000	0.59692	5.511000	0.67024	2.586000	0.87340	0.563000	0.77884	TCT		0.592	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		7	23	0	0	0	1	0	7	23				
ITIH4	3700	broad.mit.edu	37	3	52860854	52860854	+	Missense_Mutation	SNP	C	C	T	rs148337590		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:52860854C>T	ENST00000266041.4	-	4	568	c.472G>A	c.(472-474)Gag>Aag	p.E158K	ITIH4_ENST00000434759.3_Missense_Mutation_p.E70K|ITIH4_ENST00000485816.1_Missense_Mutation_p.E158K|ITIH4_ENST00000406595.1_Missense_Mutation_p.E158K|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000346281.5_Missense_Mutation_p.E158K|ITIH4-AS1_ENST00000478366.1_RNA	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	158					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGCAGCAGCTCGTACACCCCC	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19685	0.0		0.001	False		,,,				2504	0.0					ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(472-474)Gag>Aag		inter-alpha-trypsin inhibitor heavy chain family, member 4		C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	56.0	54.0	55.0		472,472	5.5	1.0	3	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ITIH4	NM_001166449.1,NM_002218.4	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	158/901,158/931	52860854	1,13005	2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52860854C>T	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.472G>A	3.37:g.52860854C>T	ENSP00000266041:p.Glu158Lys					ITIH4_ENST00000346281.5_Missense_Mutation_p.E158K|ITIH4_ENST00000485816.1_Missense_Mutation_p.E158K|ITIH4_ENST00000406595.1_Missense_Mutation_p.E158K|ITIH4_ENST00000434759.3_Missense_Mutation_p.E70K	p.E158K	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	4	568	-			158					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.472G>A	CCDS2865.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	32|32	5.159891|5.159891	0.94727|0.94727	0.0|0.0	1.16E-4|1.16E-4	ENSG00000055955|ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759|ENST00000441637	T;T;T;T;T|.	0.03801|.	4.69;4.64;4.68;4.7;3.8|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	D|D	0.83585|0.83585	0.5286|0.5286	M|M	0.86420|0.86420	2.815|2.815	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.999;0.998;0.994|.	D|D	0.85217|0.85217	0.1024|0.1024	10|5	0.87932|.	D|.	0|.	-38.7193|-38.7193	19.0722|19.0722	0.93143|0.93143	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	158;158;158;158|.	E9PGN5;B7ZKJ8;Q14624;Q14624-2|.	.;.;ITIH4_HUMAN;.|.	K|Q	158;158;158;158;146;70|27	ENSP00000266041:E158K;ENSP00000340520:E158K;ENSP00000417824:E158K;ENSP00000384425:E158K;ENSP00000440036:E70K|.	ENSP00000266041:E158K|.	E|R	-|-	1|2	0|0	ITIH4|ITIH4	52835894|52835894	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.901000|0.901000	0.52897|0.52897	4.818000|4.818000	0.62657|0.62657	2.616000|2.616000	0.88540|0.88540	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.602	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		4	64	0	0	0	1	0	4	64				
CALCRL	10203	broad.mit.edu	37	2	188247925	188247925	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:188247925C>G	ENST00000409998.1	-	6	940	c.159G>C	c.(157-159)atG>atC	p.M53I	AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.M53I|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.M53I			Q16602	CALRL_HUMAN	calcitonin receptor-like	53					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGGGGTCTTGCATAATCTTTT	0.333																																						ENST00000409998.1																			0				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32						c.(157-159)atG>atC		calcitonin receptor-like							183.0	174.0	177.0					2																	188247925		2203	4300	6503	SO:0001583	missense	10203					integral to plasma membrane		g.chr2:188247925C>G	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.159G>C	2.37:g.188247925C>G	ENSP00000386972:p.Met53Ile					AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.M53I|CALCRL_ENST00000410068.1_Missense_Mutation_p.M53I|AC007319.1_ENST00000412276.1_RNA	p.M53I			Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		6	940	-			53					A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	c.159G>C	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996461	0.35226	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068;ENST00000447403	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.78	4.91	0.64330	GPCR, family 2, extracellular hormone receptor domain (1);	0.070799	0.56097	N	0.000026	T	0.36799	0.0980	L	0.36672	1.1	0.50313	D	0.999864	B	0.02656	0.0	B	0.04013	0.001	T	0.14090	-1.0485	10	0.33940	T	0.23	.	10.8101	0.46543	0.0:0.913:0.0:0.087	.	53	Q16602	CALRL_HUMAN	I	53	ENSP00000376177:M53I;ENSP00000386972:M53I;ENSP00000387190:M53I;ENSP00000415626:M53I	ENSP00000376177:M53I	M	-	3	0	CALCRL	187956170	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.659000	0.46741	1.451000	0.47736	0.557000	0.71058	ATG		0.333	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		4	73	0	0	0	1	0	4	73				
MAP3K1	4214	broad.mit.edu	37	5	56167859	56167859	+	Splice_Site	SNP	G	G	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:56167859G>T	ENST00000399503.3	+	7	1423		c.e7+1			NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase						activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATGTCAATTTGTATGTGGCTC	0.438																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.e7+1		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							99.0	101.0	100.0					5																	56167859		1913	4146	6059	SO:0001630	splice_region_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56167859G>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1423+1G>T	5.37:g.56167859G>T								NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	7	1423	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)							Splice_Site	SNP	ENST00000399503.3	37		CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686032	0.88639	.	.	ENSG00000095015	ENST00000399503	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3431	0.98773	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP3K1	56203616	1.000000	0.71417	0.976000	0.42696	0.944000	0.59088	8.498000	0.90492	2.880000	0.98712	0.650000	0.86243	.		0.438	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066	Intron	14	46	1	0	4.3838e-07	1	4.51994e-07	14	46				
FAM208B	54906	broad.mit.edu	37	10	5772856	5772856	+	Silent	SNP	A	A	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr10:5772856A>C	ENST00000328090.5	+	11	1519	c.894A>C	c.(892-894)ggA>ggC	p.G298G	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	298																	GTGATGCTGGATTTTCCTTAG	0.408																																						ENST00000328090.5																			0											c.(892-894)ggA>ggC		family with sequence similarity 208, member B							180.0	164.0	169.0					10																	5772856		1859	4112	5971	SO:0001819	synonymous_variant	54906							g.chr10:5772856A>C	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.894A>C	10.37:g.5772856A>C						RP11-336A10.2_ENST00000411512.2_RNA	p.G298G	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			11	1519	+			298					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.894A>C	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	A	8.509	0.866163	0.17250	.	.	ENSG00000108021	ENST00000380270	.	.	.	5.93	-2.42	0.06542	.	.	.	.	.	T	0.38639	0.1048	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34650	-0.9820	4	.	.	.	.	0.9448	0.01363	0.2831:0.349:0.1561:0.2117	.	.	.	.	L	78	.	.	I	+	1	0	C10orf18	5812862	0.991000	0.36638	0.994000	0.49952	0.740000	0.42216	0.199000	0.17237	-0.104000	0.12154	-0.912000	0.02778	ATT		0.408	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		33	98	0	0	0	1	0	33	98				
FGG	2266	broad.mit.edu	37	4	155533757	155533757	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr4:155533757C>T	ENST00000336098.3	-	1	43	c.5G>A	c.(4-6)aGt>aAt	p.S2N	FGG_ENST00000404648.3_Missense_Mutation_p.S2N|FGG_ENST00000407946.1_Missense_Mutation_p.S2N|FGG_ENST00000405164.1_Missense_Mutation_p.S2N	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	2					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CAAGGACCAACTCATGATGTC	0.473																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(4-6)aGt>aAt		fibrinogen gamma chain	Sucralfate(DB00364)						75.0	81.0	79.0					4																	155533757		2203	4300	6503	SO:0001583	missense	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155533757C>T		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.5G>A	4.37:g.155533757C>T	ENSP00000336829:p.Ser2Asn					FGG_ENST00000336098.3_Missense_Mutation_p.S2N|FGG_ENST00000407946.1_Missense_Mutation_p.S2N|FGG_ENST00000405164.1_Missense_Mutation_p.S2N	p.S2N	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN			1	244	-	all_hematologic(180;0.215)	Renal(120;0.0458)	2					A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.5G>A	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348279	0.41599	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	T;T;T;T	0.58652	0.36;0.33;0.35;0.32	5.83	-0.952	0.10366	.	1.151110	0.06001	N	0.647875	T	0.40932	0.1137	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.08055	0.001;0.001;0.001;0.003	T	0.26052	-1.0114	10	0.37606	T	0.19	.	6.8396	0.23955	0.0:0.5036:0.2154:0.281	.	2;2;2;2	C9JC84;P02679;C9JEU5;P02679-2	.;FIBG_HUMAN;.;.	N	2	ENSP00000384860:S2N;ENSP00000384101:S2N;ENSP00000336829:S2N;ENSP00000384552:S2N	ENSP00000336829:S2N	S	-	2	0	FGG	155753207	0.008000	0.16893	0.899000	0.35326	0.954000	0.61252	-0.576000	0.05854	-0.138000	0.11434	0.655000	0.94253	AGT		0.473	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		12	32	0	0	0	1	0	12	32				
FGD5	152273	broad.mit.edu	37	3	14939126	14939126	+	Silent	SNP	C	C	T	rs137983126	byFrequency	TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:14939126C>T	ENST00000285046.5	+	5	2969	c.2859C>T	c.(2857-2859)caC>caT	p.H953H	FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Silent_p.H712H	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	953	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGCCATCCACGACCTTCATC	0.582													C|||	6	0.00119808	0.0045	0.0	5008	,	,		18660	0.0		0.0	False		,,,				2504	0.0					ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(2857-2859)caC>caT		FYVE, RhoGEF and PH domain containing 5		C		20,3950		0,20,1965	50.0	52.0	51.0		2859	-7.3	0.0	3	dbSNP_134	51	0,8340		0,0,4170	no	coding-synonymous	FGD5	NM_152536.3		0,20,6135	TT,TC,CC		0.0,0.5038,0.1625		953/1463	14939126	20,12290	1985	4170	6155	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14939126C>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2859C>T	3.37:g.14939126C>T						FGD5_ENST00000543601.1_Silent_p.H712H|FGD5_ENST00000476851.1_3'UTR	p.H953H	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			5	2969	+			953			DH.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.2859C>T	CCDS46767.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	7.353	0.623353	0.14193	0.005038	0.0	ENSG00000154783	ENST00000457774	.	.	.	5.05	-7.26	0.01466	.	.	.	.	.	.	.	.	.	.	.	0.29483	N	0.856236	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064	9.1408	0.36903	0.1051:0.2857:0.0:0.6092	.	.	.	.	X	137	.	.	R	+	1	2	FGD5	14914130	0.000000	0.05858	0.001000	0.08648	0.974000	0.67602	-1.548000	0.02184	-1.644000	0.01517	-0.194000	0.12790	CGA		0.582	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		3	9	0	0	0	1	0	3	9				
EPS15	2060	broad.mit.edu	37	1	51829611	51829611	+	Silent	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:51829611G>A	ENST00000371733.3	-	23	2382	c.2286C>T	c.(2284-2286)gtC>gtT	p.V762V	EPS15_ENST00000371730.2_Silent_p.V628V|EPS15_ENST00000396122.4_Silent_p.V439V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	762	15 X 3 AA repeats of D-P-F.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CTTCACTTTTGACCGATGTTT	0.438			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(2284-2286)gtC>gtT		epidermal growth factor receptor pathway substrate 15							220.0	195.0	203.0					1																	51829611		2203	4300	6503	SO:0001819	synonymous_variant	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51829611G>A	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.2286C>T	1.37:g.51829611G>A						EPS15_ENST00000396122.4_Silent_p.V439V|EPS15_ENST00000371730.2_Silent_p.V628V	p.V762V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			23	2382	-			762			15 X 3 AA repeats of D-P-F.		B2R8J7|D3DPJ2|Q5SRH4	Silent	SNP	ENST00000371733.3	37	c.2286C>T	CCDS557.1																																																																																				0.438	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		18	52	0	0	0	1	0	18	52				
KIF2B	84643	broad.mit.edu	37	17	51900872	51900872	+	Missense_Mutation	SNP	C	C	T	rs181862662		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr17:51900872C>T	ENST00000268919.4	+	1	634	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	160					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCAGGAGCAGCGGGAAAAGCG	0.552													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17953	0.0		0.0	False		,,,				2504	0.0					ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(478-480)Cgg>Tgg		kinesin family member 2B							54.0	59.0	58.0					17																	51900872		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900872C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.478C>T	17.37:g.51900872C>T	ENSP00000268919:p.Arg160Trp						p.R160W	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	634	+			160					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.478C>T	CCDS32685.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.61	2.586605	0.46110	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.79845	-1.31	5.52	0.971	0.19698	.	0.138377	0.32802	N	0.005632	D	0.87759	0.6258	M	0.73319	2.225	0.37003	D	0.895364	D	0.89917	1.0	D	0.91635	0.999	D	0.89403	0.3697	10	0.87932	D	0	.	14.7453	0.69485	0.6475:0.3525:0.0:0.0	.	160	Q8N4N8	KIF2B_HUMAN	W	160;83	ENSP00000268919:R160W	ENSP00000268919:R160W	R	+	1	2	KIF2B	49255871	0.916000	0.31088	0.996000	0.52242	0.462000	0.32619	-0.092000	0.11129	0.035000	0.15519	0.655000	0.94253	CGG		0.552	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		38	80	0	0	0	1	0	38	80				
ANKRD36C	400986	broad.mit.edu	37	2	96652499	96652499	+	Splice_Site	SNP	C	C	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:96652499C>G	ENST00000456556.1	-	3	570	c.486G>C	c.(484-486)gaG>gaC	p.E162D				Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	162							ion channel inhibitor activity (GO:0008200)	p.E162E(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TGACCTATACCTCGCTGCATT	0.338																																						ENST00000456556.1																			1	Substitution - coding silent(1)	p.E162E(1)	lung(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.e3+1		ankyrin repeat domain 36C																																				SO:0001630	splice_region_variant	400986							g.chr2:96652499C>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.486+1G>C	2.37:g.96652499C>G							p.E162_splice							3	570	-								C9JZ08|Q15694|Q53S06|Q658V2	Splice_Site	SNP	ENST00000456556.1	37	c.486_splice		.	.	.	.	.	.	.	.	.	.	c	10.75	1.438504	0.25900	.	.	ENSG00000174501	ENST00000456556	T	0.52983	0.64	1.58	1.58	0.23477	.	0.445334	0.18841	N	0.129662	T	0.33990	0.0882	L	0.31526	0.94	0.20703	N	0.999866	.	.	.	.	.	.	T	0.13926	-1.0491	7	.	.	.	.	6.5857	0.22620	0.0:1.0:0.0:0.0	.	.	.	.	D	162	ENSP00000403302:E162D	.	E	-	3	2	AC073995.2	96016226	1.000000	0.71417	0.272000	0.24630	0.034000	0.12701	3.968000	0.56809	1.188000	0.43014	0.195000	0.17529	GAG		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914	Missense_Mutation	6	16	0	0	0	1	0	6	16				
EDNRB	1910	broad.mit.edu	37	13	78492394	78492394	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr13:78492394C>T	ENST00000334286.5	-	1	551	c.315G>A	c.(313-315)acG>acA	p.T105T	RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000377211.4_Silent_p.T195T|EDNRB_ENST00000446573.1_Silent_p.T105T|EDNRB_ENST00000475537.1_5'Flank	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	105					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	AGGACACAACCGTGTTGATGT	0.522																																						ENST00000377211.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42						c.(583-585)acG>acA		endothelin receptor type B	Bosentan(DB00559)						132.0	125.0	127.0					13																	78492394		2203	4300	6503	SO:0001819	synonymous_variant	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78492394C>T	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.315G>A	13.37:g.78492394C>T						EDNRB_ENST00000334286.5_Silent_p.T105T|EDNRB_ENST00000446573.1_Silent_p.T105T	p.T195T	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	2	737	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	105					A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Silent	SNP	ENST00000334286.5	37	c.585G>A	CCDS9461.1																																																																																				0.522	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			12	52	0	0	0	1	0	12	52				
RTN4	57142	broad.mit.edu	37	2	55254030	55254030	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:55254030T>C	ENST00000337526.6	-	3	1448	c.1205A>G	c.(1204-1206)gAt>gGt	p.D402G	RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.D196G|RTN4_ENST00000394611.2_Missense_Mutation_p.D196G|RTN4_ENST00000405240.1_Missense_Mutation_p.D196G|RTN4_ENST00000404909.1_Missense_Mutation_p.D196G|RTN4_ENST00000354474.6_Missense_Mutation_p.D170G|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	402					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CATATCACTATCTTCCTTACT	0.393																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(1204-1206)gAt>gGt		reticulon 4							226.0	227.0	227.0					2																	55254030		2203	4300	6503	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55254030T>C	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1205A>G	2.37:g.55254030T>C	ENSP00000337838:p.Asp402Gly					RTN4_ENST00000357732.4_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.D196G|RTN4_ENST00000405240.1_Missense_Mutation_p.D196G|RTN4_ENST00000394611.2_Missense_Mutation_p.D196G|RTN4_ENST00000357376.3_Missense_Mutation_p.D196G|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.D170G	p.D402G	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	1448	-			402					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.1205A>G	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	T	0.977	-0.698153	0.03279	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.16743	2.39;2.39;2.32;2.39;2.39;2.37	5.75	-3.06	0.05379	.	0.792208	0.12279	N	0.483046	T	0.07007	0.0178	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30446	-0.9978	10	0.33141	T	0.24	0.0036	1.3182	0.02111	0.3683:0.295:0.1019:0.2348	.	402	Q9NQC3	RTN4_HUMAN	G	196;196;402;196;196;170	ENSP00000384471:D196G;ENSP00000349944:D196G;ENSP00000337838:D402G;ENSP00000378109:D196G;ENSP00000385650:D196G;ENSP00000346465:D170G	ENSP00000337838:D402G	D	-	2	0	RTN4	55107534	0.001000	0.12720	0.000000	0.03702	0.023000	0.10783	-0.339000	0.07832	-0.397000	0.07691	-0.309000	0.09137	GAT		0.393	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			36	142	0	0	0	1	0	36	142				
TAAR9	134860	broad.mit.edu	37	6	132859647	132859647	+	RNA	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:132859647G>A	ENST00000434551.1	+	0	219					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TGATTGCGTCGCTGGCCTGTG	0.493																																					Colon(10;433 445 15992 45047 47213)	ENST00000434551.1																			0													trace amine associated receptor 9 (gene/pseudogene)							174.0	169.0	171.0					6																	132859647		2181	4290	6471			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132859647G>A	AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132859647G>A								NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	0	219	+	Breast(56;0.112)								RNA	SNP	ENST00000434551.1	37																																																																																						0.493	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		14	30	0	0	0	1	0	14	30				
FAM47B	170062	broad.mit.edu	37	X	34962046	34962046	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chrX:34962046C>T	ENST00000329357.5	+	1	1134	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	366										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTTGTGAGGGCCAGGAGATGA	0.547																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1096-1098)ggC>ggT		family with sequence similarity 47, member B							43.0	42.0	42.0					X																	34962046		2202	4300	6502	SO:0001819	synonymous_variant	170062							g.chrX:34962046C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1098C>T	X.37:g.34962046C>T							p.G366G	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	1134	+			366					Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	c.1098C>T	CCDS14236.1																																																																																				0.547	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		25	13	0	0	0	1	0	25	13				
PPP1R35	221908	broad.mit.edu	37	7	100033541	100033541	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr7:100033541C>T	ENST00000292330.2	-	2	571	c.381G>A	c.(379-381)gcG>gcA	p.A127A	PPP1R35_ENST00000476185.1_5'UTR|RP11-758P17.2_ENST00000492523.1_RNA|RP11-758P17.3_ENST00000475250.1_RNA	NM_145030.2	NP_659467.1	Q8TAP8	PPR35_HUMAN	protein phosphatase 1, regulatory subunit 35	127					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CCACGGCCTTCGCAGCATCAA	0.706																																						ENST00000292330.2																			0											c.(379-381)gcG>gcA		protein phosphatase 1, regulatory subunit 35							14.0	16.0	15.0					7																	100033541		2183	4235	6418	SO:0001819	synonymous_variant	221908							g.chr7:100033541C>T	BC026269	CCDS5694.1	7q22.1	2012-04-17	2011-10-11	2011-10-11	ENSG00000160813	ENSG00000160813		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28320	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 47"""	C7orf47		12477932	Standard	NM_145030		Approved	MGC22793	uc003uuy.1	Q8TAP8	OTTHUMG00000159540	ENST00000292330.2:c.381G>A	7.37:g.100033541C>T						PPP1R35_ENST00000476185.1_5'UTR|RP11-758P17.2_ENST00000492523.1_RNA	p.A127A	NM_145030.2	NP_659467.1	Q8TAP8	CG047_HUMAN			2	571	-			127					A4D2C5	Silent	SNP	ENST00000292330.2	37	c.381G>A	CCDS5694.1																																																																																				0.706	PPP1R35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356095.2	NM_145030		3	22	0	0	0	1	0	3	22				
ZDHHC15	158866	broad.mit.edu	37	X	74670662	74670662	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chrX:74670662C>T	ENST00000373367.3	-	4	584	c.354G>A	c.(352-354)ccG>ccA	p.P118P	ZDHHC15_ENST00000373361.3_Silent_p.P118P|ZDHHC15_ENST00000541184.1_Silent_p.P109P	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	118					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						TTGTGTAAACCGGTAGCTTTT	0.453																																						ENST00000541184.1																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						c.(325-327)ccG>ccA		zinc finger, DHHC-type containing 15							148.0	125.0	133.0					X																	74670662		2203	4300	6503	SO:0001819	synonymous_variant	158866					integral to membrane	zinc ion binding	g.chrX:74670662C>T	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.354G>A	X.37:g.74670662C>T						ZDHHC15_ENST00000373367.3_Silent_p.P118P|ZDHHC15_ENST00000373361.3_Silent_p.P118P	p.P109P	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN			3	804	-			118					B3KVG7|Q3SY30|Q6UWH3	Silent	SNP	ENST00000373367.3	37	c.327G>A	CCDS14430.1																																																																																				0.453	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969		9	29	0	0	0	1	0	9	29				
GIGYF2	26058	broad.mit.edu	37	2	233651923	233651923	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:233651923C>G	ENST00000409547.1	+	11	907	c.596C>G	c.(595-597)tCa>tGa	p.S199*	GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.S221*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.S199*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.S30*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.S221*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.S199*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.S221*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	199	Arg-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTTATACGCTCAGAAAGTGAA	0.423																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(661-663)tCa>tGa		GRB10 interacting GYF protein 2							114.0	117.0	116.0					2																	233651923		2203	4300	6503	SO:0001587	stop_gained	26058				cell death		protein binding	g.chr2:233651923C>G	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.596C>G	2.37:g.233651923C>G	ENSP00000386537:p.Ser199*					GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.S221*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.S199*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.S199*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.S30*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.S221*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.S199*	p.S221*			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	10	859	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	199			Arg-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	ENST00000409547.1	37	c.662C>G	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	36	5.885015	0.97068	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000445650;ENST00000452341;ENST00000421778	.	.	.	5.63	5.63	0.86233	.	0.315400	0.31041	N	0.008368	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-9.3296	20.0345	0.97552	0.0:1.0:0.0:0.0	.	.	.	.	X	221;148;199;221;199;199;148;199;221;199;30;30;26	.	ENSP00000362664:S199X	S	+	2	0	GIGYF2	233360167	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.034000	0.76511	2.797000	0.96272	0.655000	0.94253	TCA		0.423	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		19	70	0	0	0	1	0	19	70				
MPRIP	23164	broad.mit.edu	37	17	17062109	17062109	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr17:17062109C>T	ENST00000341712.4	+	14	1839	c.1839C>T	c.(1837-1839)cgC>cgT	p.R613R	MPRIP_ENST00000395804.3_Silent_p.R613R|MPRIP_ENST00000444976.1_Silent_p.R575R|MPRIP_ENST00000395811.5_Silent_p.R613R			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	613	Interaction with RHOA.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CAGCCCTGCGCATGGAGGTGG	0.662																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(1837-1839)cgC>cgT		myosin phosphatase Rho interacting protein							40.0	43.0	42.0					17																	17062109		2197	4283	6480	SO:0001819	synonymous_variant	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17062109C>T	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.1839C>T	17.37:g.17062109C>T						MPRIP_ENST00000341712.4_Silent_p.R613R|MPRIP_ENST00000444976.1_Silent_p.R575R|MPRIP_ENST00000395804.3_Silent_p.R613R	p.R613R	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			14	1928	+			613			Interaction with RHOA.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Silent	SNP	ENST00000341712.4	37	c.1839C>T	CCDS32578.1	.	.	.	.	.	.	.	.	.	.	C	5.888	0.347979	0.11126	.	.	ENSG00000133030	ENST00000423885	.	.	.	5.22	-6.61	0.01818	.	.	.	.	.	T	0.49983	0.1589	.	.	.	0.54753	D	0.999983	.	.	.	.	.	.	T	0.54748	-0.8247	4	.	.	.	.	8.9489	0.35776	0.1387:0.6261:0.1526:0.0826	.	.	.	.	V	100	.	.	A	+	2	0	MPRIP	17002834	0.701000	0.27806	0.722000	0.30670	0.533000	0.34776	-0.183000	0.09712	-0.885000	0.03971	0.462000	0.41574	GCA		0.662	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		56	49	0	0	0	1	0	56	49				
MPP7	143098	broad.mit.edu	37	10	28409159	28409159	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr10:28409159C>A	ENST00000375732.1	-	10	1110	c.851G>T	c.(850-852)aGg>aTg	p.R284M	MPP7_ENST00000337532.5_Missense_Mutation_p.R284M|MPP7_ENST00000445954.2_Missense_Mutation_p.R159M|MPP7_ENST00000375719.3_Missense_Mutation_p.R284M|MPP7_ENST00000540098.1_Missense_Mutation_p.R284M			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	284	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CAAGCCTGCCCTGGGGTTGGC	0.458																																						ENST00000337532.5																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(850-852)aGg>aTg		membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)							111.0	98.0	102.0					10																	28409159		2203	4300	6503	SO:0001583	missense	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28409159C>A	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.851G>T	10.37:g.28409159C>A	ENSP00000364884:p.Arg284Met					MPP7_ENST00000375732.1_Missense_Mutation_p.R284M|MPP7_ENST00000540098.1_Missense_Mutation_p.R284M|MPP7_ENST00000445954.2_Missense_Mutation_p.R159M|MPP7_ENST00000375719.3_Missense_Mutation_p.R284M	p.R284M	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN			11	1127	-			284			SH3.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	c.851G>T	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515264	0.64634	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000445954	T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82	5.73	5.73	0.89815	Src homology-3 domain (4);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.41190	0.1148	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.23547	-1.0185	10	0.59425	D	0.04	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	284	Q5T2T1	MPP7_HUMAN	M	284;284;284;284;159	ENSP00000364884:R284M;ENSP00000337907:R284M;ENSP00000438693:R284M;ENSP00000364871:R284M;ENSP00000405397:R159M	ENSP00000337907:R284M	R	-	2	0	MPP7	28449165	1.000000	0.71417	0.985000	0.45067	0.123000	0.20343	7.776000	0.85560	2.861000	0.98227	0.655000	0.94253	AGG		0.458	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		16	58	1	0	4.75885e-15	1	5.09657e-15	16	58				
SGIP1	84251	broad.mit.edu	37	1	67160169	67160169	+	Intron	SNP	C	C	T	rs375278553	byFrequency	TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:67160169C>T	ENST00000371037.4	+	18	1647				SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000435165.2_5'Flank|SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000371039.1_Missense_Mutation_p.R341C|SGIP1_ENST00000371036.3_Missense_Mutation_p.R340C	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1						endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GTTTGAAAGGCGCTGTGAAAC	0.393													C|||	2	0.000399361	0.0	0.0	5008	,	,		18968	0.0		0.0	False		,,,				2504	0.002					ENST00000371036.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(1018-1020)Cgc>Tgc		SH3-domain GRB2-like (endophilin) interacting protein 1		C		1,1751		0,1,875	33.0	31.0	32.0			4.9	1.0	1		32	0,3982		0,0,1991	no	intron	SGIP1	NM_032291.2		0,1,2866	TT,TC,CC		0.0,0.0571,0.0174			67160169	1,5733	876	1991	2867	SO:0001627	intron_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67160169C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1571-948C>T	1.37:g.67160169C>T						SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371037.4_Intron|SGIP1_ENST00000371039.1_Missense_Mutation_p.R341C|SGIP1_ENST00000237247.6_Intron	p.R340C			Q9BQI5	SGIP1_HUMAN			14	1194	+			540			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1018C>T	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739755	0.30865	5.71E-4	0.0	ENSG00000118473	ENST00000371039;ENST00000371036	T;T	0.15017	2.46;2.46	5.86	4.94	0.65067	.	.	.	.	.	T	0.04907	0.0132	.	.	.	0.22412	N	0.999121	P	0.51537	0.946	B	0.33521	0.165	T	0.15983	-1.0418	8	0.54805	T	0.06	.	11.471	0.50268	0.1263:0.8075:0.0:0.0662	.	140	B3KR01	.	C	341;340	ENSP00000360078:R341C;ENSP00000360075:R340C	ENSP00000360075:R340C	R	+	1	0	SGIP1	66932757	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.558000	0.60789	1.455000	0.47813	-0.182000	0.12963	CGC		0.393	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		5	13	0	0	0	1	0	5	13				
ROBO2	6092	broad.mit.edu	37	3	77629164	77629164	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:77629164G>A	ENST00000461745.1	+	16	3295	c.2395G>A	c.(2395-2397)Gta>Ata	p.V799I	ROBO2_ENST00000332191.8_Missense_Mutation_p.V799I|ROBO2_ENST00000487694.3_Missense_Mutation_p.V815I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	799	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CATTCGGTCCGTAATAATTGG	0.433																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(2395-2397)Gta>Ata		roundabout, axon guidance receptor, homolog 2 (Drosophila)							132.0	127.0	129.0					3																	77629164		1883	4110	5993	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77629164G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2395G>A	3.37:g.77629164G>A	ENSP00000417164:p.Val799Ile					ROBO2_ENST00000332191.8_Missense_Mutation_p.V799I|ROBO2_ENST00000487694.3_Missense_Mutation_p.V815I	p.V799I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	16	3295	+			799			Fibronectin type-III 3.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2395G>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588374	0.66105	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.60040	0.22;0.22;0.22	5.53	5.53	0.82687	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.36519	U	0.002554	T	0.59018	0.2163	L	0.52905	1.665	0.42964	D	0.994411	P;P;P	0.47034	0.889;0.777;0.889	B;B;B	0.42738	0.396;0.275;0.396	T	0.67581	-0.5634	9	0.59425	D	0.04	.	19.0503	0.93041	0.0:0.0:1.0:0.0	.	815;799;799	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	I	815;815;819;799;799;520	ENSP00000417335:V815I;ENSP00000417164:V799I;ENSP00000327536:V799I	ENSP00000327536:V799I	V	+	1	0	ROBO2	77711854	1.000000	0.71417	0.999000	0.59377	0.341000	0.28922	7.818000	0.86416	2.591000	0.87537	0.563000	0.77884	GTA		0.433	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		11	44	0	0	0	1	0	11	44				
AMER2	219287	broad.mit.edu	37	13	25745697	25745697	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr13:25745697C>T	ENST00000515384.1	-	1	728	c.61G>A	c.(61-63)Gcg>Acg	p.A21T	AMER2_ENST00000357816.2_Missense_Mutation_p.A21T|AMER2_ENST00000381853.3_Missense_Mutation_p.A21T|AMER2-AS1_ENST00000413501.1_lincRNA			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	21	Gly-rich.				ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										CCCACGGACGCGCCAGCTCCG	0.726																																						ENST00000357816.2																			0											c.(61-63)Gcg>Acg		APC membrane recruitment protein 2							4.0	5.0	5.0					13																	25745697		1900	3936	5836	SO:0001583	missense	219287							g.chr13:25745697C>T	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.61G>A	13.37:g.25745697C>T	ENSP00000426528:p.Ala21Thr					AMER2_ENST00000515384.1_Missense_Mutation_p.A21T|AMER2_ENST00000381853.3_Missense_Mutation_p.A21T	p.A21T							2	536	-								Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.61G>A	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.985087	0.35036	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.24723	1.85;1.85;1.84	3.12	3.12	0.35913	.	0.714584	0.11389	N	0.569025	T	0.37705	0.1013	L	0.44542	1.39	0.25734	N	0.985234	D;D	0.71674	0.997;0.998	P;P	0.59012	0.712;0.85	T	0.13980	-1.0489	10	0.59425	D	0.04	-28.7436	12.0179	0.53324	0.0:1.0:0.0:0.0	.	21;21	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	T	21	ENSP00000350469:A21T;ENSP00000371277:A21T;ENSP00000426528:A21T	ENSP00000350469:A21T	A	-	1	0	FAM123A	24643697	0.982000	0.34865	0.965000	0.40720	0.608000	0.37181	3.720000	0.54933	1.722000	0.51474	0.462000	0.41574	GCG		0.726	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		4	7	0	0	0	1	0	4	7				
TUSC5	286753	broad.mit.edu	37	17	1198837	1198837	+	Missense_Mutation	SNP	G	G	A	rs370410748		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr17:1198837G>A	ENST00000333813.3	+	2	779	c.440G>A	c.(439-441)cGc>cAc	p.R147H		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	147					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)		p.R147H(1)|p.R147L(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGCTGGGCCGCCTGGCTCGG	0.622																																						ENST00000333813.3																			2	Substitution - Missense(2)	p.R147H(1)|p.R147L(1)	prostate(1)|endometrium(1)	endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15						c.(439-441)cGc>cAc		tumor suppressor candidate 5		G	HIS/ARG	1,4219		0,1,2109	86.0	103.0	97.0		440	4.6	1.0	17		97	0,8470		0,0,4235	no	missense	TUSC5	NM_172367.2	29	0,1,6344	AA,AG,GG		0.0,0.0237,0.0079	possibly-damaging	147/178	1198837	1,12689	2110	4235	6345	SO:0001583	missense	286753				response to biotic stimulus	integral to membrane		g.chr17:1198837G>A	AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"""located at seventeen p thirteen point three 1"", ""interferon induced transmembrane protein domain containing 3"""	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.440G>A	17.37:g.1198837G>A	ENSP00000329548:p.Arg147His						p.R147H	NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	2	779	+			147					A6NMK4	Missense_Mutation	SNP	ENST00000333813.3	37	c.440G>A	CCDS42225.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732822	0.89482	2.37E-4	0.0	ENSG00000184811	ENST00000333813	D	0.86956	-2.19	5.56	4.58	0.56647	.	0.000000	0.64402	U	0.000002	D	0.87269	0.6135	M	0.86343	2.81	0.51767	D	0.999937	P	0.43024	0.798	B	0.36608	0.229	D	0.88185	0.2873	10	0.72032	D	0.01	-12.3237	11.8217	0.52242	0.0826:0.0:0.9174:0.0	.	147	Q8IXB3	TUSC5_HUMAN	H	147	ENSP00000329548:R147H	ENSP00000329548:R147H	R	+	2	0	TUSC5	1145587	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.085000	0.50151	1.345000	0.45676	0.609000	0.83330	CGC		0.622	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		29	195	0	0	0	1	0	29	195				
ZNF24	7572	broad.mit.edu	37	18	32917661	32917661	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr18:32917661T>G	ENST00000261332.6	-	4	821	c.642A>C	c.(640-642)gaA>gaC	p.E214D	ZNF24_ENST00000399061.3_Missense_Mutation_p.E214D|ZNF24_ENST00000589881.1_3'UTR	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	214					myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TGCCAGGAACTTCATGGGATT	0.403																																					Colon(42;769 913 8916 19469 46270)	ENST00000261332.6																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						c.(640-642)gaA>gaC		zinc finger protein 24							100.0	110.0	107.0					18																	32917661		2203	4300	6503	SO:0001583	missense	7572				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32917661T>G	AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.642A>C	18.37:g.32917661T>G	ENSP00000261332:p.Glu214Asp					ZNF24_ENST00000399061.3_Missense_Mutation_p.E214D|ZNF24_ENST00000589881.1_3'UTR	p.E214D	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN			4	821	-			214					O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	ENST00000261332.6	37	c.642A>C	CCDS11912.1	.	.	.	.	.	.	.	.	.	.	T	5.884	0.347151	0.11126	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.05025	3.51;3.51	5.38	-0.343	0.12632	.	0.102986	0.43416	D	0.000573	T	0.02494	0.0076	N	0.10972	0.075	0.29277	N	0.870301	B	0.02656	0.0	B	0.01281	0.0	T	0.41106	-0.9527	10	0.18710	T	0.47	.	4.2016	0.10469	0.249:0.1566:0.0:0.5944	.	214	P17028	ZNF24_HUMAN	D	214	ENSP00000261332:E214D;ENSP00000382015:E214D	ENSP00000261332:E214D	E	-	3	2	ZNF24	31171659	0.098000	0.21812	0.990000	0.47175	0.613000	0.37349	0.203000	0.17315	0.109000	0.17891	0.533000	0.62120	GAA		0.403	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965		36	89	0	0	0	1	0	36	89				
TOP1MT	116447	broad.mit.edu	37	8	144400209	144400209	+	Silent	SNP	G	G	A	rs34884995	byFrequency	TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr8:144400209G>A	ENST00000329245.4	-	9	1228	c.1194C>T	c.(1192-1194)gaC>gaT	p.D398D	TOP1MT_ENST00000521193.1_Silent_p.D300D|TOP1MT_ENST00000523676.1_Silent_p.D300D|TOP1MT_ENST00000519148.1_Silent_p.D300D	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	398					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CGAAGAGGTCGTCCCGGGGGT	0.572													G|||	4	0.000798722	0.003	0.0	5008	,	,		16761	0.0		0.0	False		,,,				2504	0.0					ENST00000523676.1																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23						c.(898-900)gaC>gaT		topoisomerase (DNA) I, mitochondrial	Irinotecan(DB00762)|Topotecan(DB01030)	G		18,4386	23.3+/-48.9	1,16,2185	73.0	80.0	78.0		1194	-0.5	0.0	8	dbSNP_126	78	0,8600		0,0,4300	no	coding-synonymous	TOP1MT	NM_052963.1		1,16,6485	AA,AG,GG		0.0,0.4087,0.1384		398/602	144400209	18,12986	2202	4300	6502	SO:0001819	synonymous_variant	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144400209G>A	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1194C>T	8.37:g.144400209G>A						TOP1MT_ENST00000519148.1_Silent_p.D300D|TOP1MT_ENST00000329245.4_Silent_p.D398D|TOP1MT_ENST00000521193.1_Silent_p.D300D	p.D300D			Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		10	1305	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		398					B7ZAR5|E7ES89|Q86ST4|Q86V82	Silent	SNP	ENST00000329245.4	37	c.900C>T	CCDS6400.1																																																																																				0.572	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		25	59	0	0	0	1	0	25	59				
KPNA1	3836	broad.mit.edu	37	3	122145946	122145946	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:122145946C>T	ENST00000344337.6	-	14	1679	c.1503G>A	c.(1501-1503)gaG>gaA	p.E501E	RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|KPNA1_ENST00000466923.1_5'UTR|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	501					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		CGAAGTAATGCTCAATAAGAT	0.423																																					Melanoma(12;340 801 11196 19797)	ENST00000344337.6																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21						c.(1501-1503)gaG>gaA		karyopherin alpha 1 (importin alpha 5)							162.0	140.0	147.0					3																	122145946		2203	4300	6503	SO:0001819	synonymous_variant	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122145946C>T	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.1503G>A	3.37:g.122145946C>T						KPNA1_ENST00000466923.1_5'UTR	p.E501E	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	14	1679	-			501					D3DN93|Q6IBQ9|Q9BQ56	Silent	SNP	ENST00000344337.6	37	c.1503G>A	CCDS3013.1																																																																																				0.423	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		22	39	0	0	0	1	0	22	39				
ENPP4	22875	broad.mit.edu	37	6	46108017	46108017	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:46108017A>G	ENST00000321037.4	+	2	927	c.697A>G	c.(697-699)Atc>Gtc	p.I233V		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	233					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TCTTAATGTGATCATTACAAG	0.378																																						ENST00000321037.4																			0				central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						c.(697-699)Atc>Gtc		ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)							116.0	110.0	112.0					6																	46108017		2203	4300	6503	SO:0001583	missense	22875					integral to membrane	hydrolase activity	g.chr6:46108017A>G	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.697A>G	6.37:g.46108017A>G	ENSP00000318066:p.Ile233Val						p.I233V	NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN			2	927	+			233					A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	c.697A>G	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.556658	0.65425	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.74842	-0.88	5.91	5.91	0.95273	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.129630	0.64402	D	0.000011	T	0.67021	0.2849	L	0.45137	1.4	0.54753	D	0.999988	P	0.37083	0.581	P	0.45610	0.487	T	0.68652	-0.5352	10	0.38643	T	0.18	-22.1922	16.3483	0.83171	1.0:0.0:0.0:0.0	.	233	Q9Y6X5	ENPP4_HUMAN	V	233	ENSP00000318066:I233V	ENSP00000318066:I233V	I	+	1	0	ENPP4	46215976	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.969000	0.63735	2.254000	0.74563	0.533000	0.62120	ATC		0.378	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			4	85	0	0	0	1	0	4	85				
ECT2L	345930	broad.mit.edu	37	6	139202177	139202177	+	Silent	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:139202177G>A	ENST00000423192.1	+	14	1910	c.1749G>A	c.(1747-1749)caG>caA	p.Q583Q	ECT2L_ENST00000541398.1_Silent_p.Q514Q|RP3-509I19.6_ENST00000572284.1_RNA|ECT2L_ENST00000367682.2_Silent_p.Q583Q			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	583	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						AATACGTGCAGATACTGGAAA	0.423			"""N, Splice, Mis"""		ETP ALL																																	ENST00000423192.1				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1747-1749)caG>caA		epithelial cell transforming sequence 2 oncogene-like							120.0	112.0	115.0					6																	139202177		1939	4164	6103	SO:0001819	synonymous_variant	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139202177G>A		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1749G>A	6.37:g.139202177G>A						ECT2L_ENST00000367682.2_Silent_p.Q583Q|ECT2L_ENST00000541398.1_Silent_p.Q514Q	p.Q583Q			Q008S8	ECT2L_HUMAN			14	1910	+			583			DH.		B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Silent	SNP	ENST00000423192.1	37	c.1749G>A	CCDS43508.1																																																																																				0.423	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		16	36	0	0	0	1	0	16	36				
FBXL7	23194	broad.mit.edu	37	5	15936738	15936738	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:15936738C>T	ENST00000504595.1	+	4	1400	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	FBXL7_ENST00000329673.7_Missense_Mutation_p.R295C|MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Missense_Mutation_p.R260C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	307					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTACCTGCGCCGCTGCGTCCG	0.647																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(919-921)Cgc>Tgc		F-box and leucine-rich repeat protein 7							40.0	43.0	42.0					5																	15936738		2186	4284	6470	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936738C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.919C>T	5.37:g.15936738C>T	ENSP00000423630:p.Arg307Cys					FBXL7_ENST00000510662.1_Missense_Mutation_p.R260C|FBXL7_ENST00000329673.7_Missense_Mutation_p.R295C	p.R307C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			4	1400	+			307					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.919C>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830620	0.91036	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.00596	6.32;6.32;6.32	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.02494	0.0076	M	0.63208	1.945	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67300	-0.5705	10	0.39692	T	0.17	.	18.6513	0.91431	0.0:1.0:0.0:0.0	.	307	Q9UJT9	FBXL7_HUMAN	C	307;260;295	ENSP00000423630:R307C;ENSP00000425184:R260C;ENSP00000329632:R295C	ENSP00000329632:R295C	R	+	1	0	FBXL7	15989738	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.414000	0.81942	0.655000	0.94253	CGC		0.647	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		10	35	0	0	0	1	0	10	35				
ANKRD11	29123	broad.mit.edu	37	16	89347680	89347680	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr16:89347680G>A	ENST00000301030.4	-	9	5730	c.5270C>T	c.(5269-5271)tCc>tTc	p.S1757F	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S1757F	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1757					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAAGGAGGGGGAGCAGGCGCT	0.652																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(5269-5271)tCc>tTc		ankyrin repeat domain 11							43.0	46.0	45.0					16																	89347680		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89347680G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5270C>T	16.37:g.89347680G>A	ENSP00000301030:p.Ser1757Phe					ANKRD11_ENST00000378330.2_Missense_Mutation_p.S1757F	p.S1757F	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	5730	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1757					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.5270C>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.459487	0.84317	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.68479	-0.33;-0.33	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000003	T	0.74427	0.3715	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.78061	-0.2351	10	0.87932	D	0	.	16.8476	0.85985	0.0:0.0:1.0:0.0	.	1757	Q6UB99	ANR11_HUMAN	F	1757	ENSP00000301030:S1757F;ENSP00000367581:S1757F	ENSP00000301030:S1757F	S	-	2	0	ANKRD11	87875181	1.000000	0.71417	0.988000	0.46212	0.801000	0.45260	8.992000	0.93519	2.266000	0.75297	0.457000	0.33378	TCC		0.652	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		24	90	0	0	0	1	0	24	90				
KALRN	8997	broad.mit.edu	37	3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:124418865C>T	ENST00000291478.5	+	23	3053	c.2890C>T	c.(2890-2892)Cga>Tga	p.R964*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000360013.3_Nonsense_Mutation_p.R2661*	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(7981-7983)Cga>Tga		kalirin, RhoGEF kinase							132.0	121.0	125.0					3																	124418865		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124418865C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2890C>T	3.37:g.124418865C>T	ENSP00000291478:p.Arg964*					KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*	p.R2661*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			56	8108	+			2660					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000291478.5	37	c.7981C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	42	9.571042	0.99208	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	.	.	.	6.17	3.15	0.36227	.	0.209202	0.31347	N	0.007809	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	14.1047	0.65080	0.6612:0.3388:0.0:0.0	.	.	.	.	X	2661;964;932	.	ENSP00000291478:R964X	R	+	1	2	KALRN	125901555	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.467000	0.35321	0.920000	0.36970	-0.152000	0.13540	CGA		0.597	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		5	172	0	0	0	1	0	5	172				
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)Agt>Ggt																																						SO:0001583	missense	284802							g.chr20:29628299A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.301A>G	20.37:g.29628299A>G	ENSP00000278882:p.Ser101Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G	p.S101G							6	681	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.301A>G		.	.	.	.	.	.	.	.	.	.	a	16.61	3.170807	0.57584	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50001	0.76	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	D	0.000001	T	0.38719	0.1051	.	.	.	0.42178	D	0.991671	B;P	0.36483	0.147;0.555	B;B	0.37731	0.138;0.257	T	0.38178	-0.9673	9	0.62326	D	0.03	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	G	101;106;101	ENSP00000408863:S106G	ENSP00000278882:S101G	S	+	1	0	FRG1B	28241960	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.085000	0.89518	1.208000	0.43306	0.347000	0.21830	AGT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	103	0	0	0	1	0	4	103				
HNF4G	3174	broad.mit.edu	37	8	76456182	76456182	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr8:76456182C>T	ENST00000354370.1	+	3	384	c.114C>T	c.(112-114)cgC>cgT	p.R38R	HNF4G_ENST00000396423.2_Silent_p.R75R			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	38					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TCTTCAGACGCAGCATTCGTA	0.448																																						ENST00000396423.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(223-225)cgC>cgT		hepatocyte nuclear factor 4, gamma							174.0	148.0	157.0					8																	76456182		2203	4300	6503	SO:0001819	synonymous_variant	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76456182C>T		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.114C>T	8.37:g.76456182C>T						HNF4G_ENST00000354370.1_Silent_p.R38R	p.R75R	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		2	349	+	Breast(64;0.0448)		38					Q7Z2V9|Q9UH81|Q9UIS6	Silent	SNP	ENST00000354370.1	37	c.225C>T																																																																																					0.448	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		22	75	0	0	0	1	0	22	75				
FHDC1	85462	broad.mit.edu	37	4	153884004	153884004	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr4:153884004T>A	ENST00000511601.1	+	7	1077	c.889T>A	c.(889-891)Ttg>Atg	p.L297M	FHDC1_ENST00000260008.3_Missense_Mutation_p.L297M			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	297	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.		L -> F. {ECO:0000269|PubMed:23033978}.						ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AATATTACACTTGGTGCTCCA	0.368																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(889-891)Ttg>Atg		FH2 domain containing 1							116.0	104.0	108.0					4																	153884004		2203	4300	6503	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153884004T>A	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.889T>A	4.37:g.153884004T>A	ENSP00000427567:p.Leu297Met					FHDC1_ENST00000260008.3_Missense_Mutation_p.L297M	p.L297M			Q9C0D6	FHDC1_HUMAN			7	1077	+	all_hematologic(180;0.093)		297			FH2.			Missense_Mutation	SNP	ENST00000511601.1	37	c.889T>A	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044927	0.55110	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.20881	2.04;2.04	5.36	1.5	0.22942	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.34135	0.0887	L	0.58969	1.84	0.49389	D	0.999781	D	0.89917	1.0	D	0.97110	1.0	T	0.12400	-1.0549	10	0.14252	T	0.57	.	9.2582	0.37597	0.0:0.2085:0.0:0.7915	.	297	Q9C0D6	FHDC1_HUMAN	M	297	ENSP00000427567:L297M;ENSP00000260008:L297M	ENSP00000260008:L297M	L	+	1	2	FHDC1	154103454	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	0.832000	0.27490	0.038000	0.15604	0.379000	0.24179	TTG		0.368	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		6	37	0	0	0	1	0	6	37				
ANKS1B	56899	broad.mit.edu	37	12	99640553	99640553	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr12:99640553A>T	ENST00000547776.2	-	13	1845	c.1846T>A	c.(1846-1848)Tgt>Agt	p.C616S	ANKS1B_ENST00000329257.7_Missense_Mutation_p.C616S|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.C196S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	616						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGGGACTCACAGGCTGGAGAG	0.458																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(1846-1848)Tgt>Agt		ankyrin repeat and sterile alpha motif domain containing 1B							149.0	140.0	142.0					12																	99640553		1874	4102	5976	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99640553A>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1846T>A	12.37:g.99640553A>T	ENSP00000449629:p.Cys616Ser					ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.C196S|ANKS1B_ENST00000329257.7_Missense_Mutation_p.C616S	p.C616S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	13	1845	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	616					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.1846T>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.305394	0.81247	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702	T;T;T	0.65732	0.69;-0.17;0.69	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.75064	0.3799	L	0.57536	1.79	0.80722	D	1	D;B	0.76494	0.999;0.147	D;B	0.75484	0.986;0.021	T	0.74551	-0.3628	9	.	.	.	-6.5946	14.6881	0.69065	1.0:0.0:0.0:0.0	.	196;616	Q7Z6G8-6;Q7Z6G8	.;ANS1B_HUMAN	S	616;196;616;195	ENSP00000449629:C616S;ENSP00000448512:C196S;ENSP00000331381:C616S	.	C	-	1	0	ANKS1B	98164684	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	8.164000	0.89661	2.270000	0.75569	0.459000	0.35465	TGT		0.458	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		4	203	0	0	0	1	0	4	203				
MTPAP	55149	broad.mit.edu	37	10	30638178	30638178	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr10:30638178C>T	ENST00000263063.4	-	1	70	c.27G>A	c.(25-27)ttG>ttA	p.L9L	MTPAP_ENST00000488290.1_Intron|MTPAP_ENST00000358107.4_Intron	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	9					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TCAAACGGGTCAAGAGCCCCA	0.527																																						ENST00000263063.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(25-27)ttG>ttA		mitochondrial poly(A) polymerase							36.0	39.0	38.0					10																	30638178		2203	4300	6503	SO:0001819	synonymous_variant	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30638178C>T	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.27G>A	10.37:g.30638178C>T						MTPAP_ENST00000488290.1_Intron|MTPAP_ENST00000358107.4_Intron	p.L9L	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN			1	70	-			9					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Silent	SNP	ENST00000263063.4	37	c.27G>A	CCDS7165.1																																																																																				0.527	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		7	29	0	0	0	1	0	7	29				
ASTN1	460	broad.mit.edu	37	1	176918380	176918380	+	Silent	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:176918380G>A	ENST00000367654.3	-	12	2230	c.2019C>T	c.(2017-2019)ctC>ctT	p.L673L	ASTN1_ENST00000367657.3_Silent_p.L665L|ASTN1_ENST00000424564.2_Silent_p.L665L|ASTN1_ENST00000361833.2_Silent_p.L665L|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	673	EGF-like 3.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCATCTGCTGGAGGCACAGCT	0.612											OREG0014004	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(2017-2019)ctC>ctT		astrotactin 1							69.0	67.0	68.0					1																	176918380		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176918380G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2019C>T	1.37:g.176918380G>A			OREG0014004	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1934	ASTN1_ENST00000424564.2_Silent_p.L665L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.L665L|ASTN1_ENST00000361833.2_Silent_p.L665L	p.L673L			O14525	ASTN1_HUMAN			12	2032	-			673			EGF-like 3.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.2019C>T																																																																																					0.612	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		14	81	0	0	0	1	0	14	81				
C7orf49	78996	broad.mit.edu	37	7	134851619	134851619	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr7:134851619C>T	ENST00000393114.3	-	4	399	c.218G>A	c.(217-219)cGc>cAc	p.R73H	RP11-134L10.1_ENST00000608819.1_RNA|C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000430372.1_Missense_Mutation_p.R72H|C7orf49_ENST00000483029.2_Missense_Mutation_p.R18H|C7orf49_ENST00000424142.1_Missense_Mutation_p.R18H			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	73						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TTCCTGTTTGCGGCTCTGTGG	0.552																																						ENST00000424142.1																			0				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						c.(52-54)cGc>cAc		chromosome 7 open reading frame 49							58.0	62.0	61.0					7																	134851619		2203	4300	6503	SO:0001583	missense	78996					cytoplasm		g.chr7:134851619C>T	BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"""modulator of retrovirus infection"""					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000393114.3:c.218G>A	7.37:g.134851619C>T	ENSP00000376823:p.Arg73His					C7orf49_ENST00000483029.2_Missense_Mutation_p.R18H|C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000430372.1_Missense_Mutation_p.R72H|C7orf49_ENST00000393114.3_Missense_Mutation_p.R73H	p.R18H	NM_001243749.1|NM_001243753.1	NP_001230678.1|NP_001230682.1	Q9BWK5	MRI_HUMAN			4	655	-			73					Q6NWZ4|Q6ZNR5	Missense_Mutation	SNP	ENST00000393114.3	37	c.53G>A	CCDS5838.2	.	.	.	.	.	.	.	.	.	.	C	9.583	1.124011	0.20959	.	.	ENSG00000122783	ENST00000435834;ENST00000424142;ENST00000393114;ENST00000430372	.	.	.	5.37	-0.62	0.11567	.	0.459807	0.18826	N	0.130106	T	0.48892	0.1525	M	0.65498	2.005	0.58432	D	0.999997	B;B;B	0.29232	0.238;0.059;0.098	B;B;B	0.22601	0.04;0.013;0.023	T	0.41556	-0.9502	9	0.62326	D	0.03	-2.453	8.3717	0.32419	0.0:0.4697:0.0:0.5303	.	72;73;44	C9JKC7;Q9BWK5;Q9BWK5-2	.;MRI_HUMAN;.	H	18;18;73;72	.	ENSP00000376823:R73H	R	-	2	0	C7orf49	134502159	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-1.180000	0.03088	-0.197000	0.10350	0.563000	0.77884	CGC		0.552	C7orf49-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340145.1	NM_024033		4	78	0	0	0	1	0	4	78				
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	lincRNA	SNP	T	T	A	rs6583274	byFrequency	TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884									long intergenic non-protein coding RNA 969																		CCCTTTGAGGTGCACTGGAGG	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		36746	0.1855		0.16	False		,,,				2504	0.1748					ENST00000445430.1																			0																																																			440993							g.chr3:195410687T>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410687T>A														0	1884	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	31	0	0	0	1	0	3	31				
TIMELESS	8914	broad.mit.edu	37	12	56818648	56818648	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr12:56818648T>C	ENST00000553532.1	-	15	1916	c.1766A>G	c.(1765-1767)gAg>gGg	p.E589G	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000229201.4_Missense_Mutation_p.E588G					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CACTGGCACCTCTGAGGCCGC	0.577																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(1762-1764)gAg>gGg		timeless circadian clock							74.0	74.0	74.0					12																	56818648		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56818648T>C	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1766A>G	12.37:g.56818648T>C	ENSP00000450607:p.Glu589Gly					TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.E589G	p.E588G	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			15	1917	-			589						Missense_Mutation	SNP	ENST00000553532.1	37	c.1763A>G	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	T	34	5.324154	0.95708	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.09350	2.99;2.99	5.68	5.68	0.88126	.	0.048801	0.85682	D	0.000000	T	0.29190	0.0726	L	0.61387	1.9	0.80722	D	1	D	0.76494	0.999	D	0.64687	0.928	T	0.00766	-1.1575	10	0.66056	D	0.02	-15.259	15.2114	0.73227	0.0:0.0:0.0:1.0	.	589	Q9UNS1	TIM_HUMAN	G	588;589	ENSP00000229201:E588G;ENSP00000450607:E589G	ENSP00000229201:E589G	E	-	2	0	TIMELESS	55104915	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.638000	0.83328	2.297000	0.77311	0.533000	0.62120	GAG		0.577	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		4	135	0	0	0	1	0	4	135				
RPRD2	23248	broad.mit.edu	37	1	150445606	150445606	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:150445606C>T	ENST00000369068.4	+	11	4186	c.4182C>T	c.(4180-4182)agC>agT	p.S1394S	RPRD2_ENST00000401000.4_Silent_p.S1368S|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1394	Pro-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCAACAGCAGCAGTGGCCCCC	0.617																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(4102-4104)agC>agT		regulation of nuclear pre-mRNA domain containing 2							45.0	51.0	49.0					1																	150445606		1980	4156	6136	SO:0001819	synonymous_variant	23248						protein binding	g.chr1:150445606C>T	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.4182C>T	1.37:g.150445606C>T						RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.S1394S	p.S1368S			Q5VT52	RPRD2_HUMAN			10	4169	+			1394			Pro-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Silent	SNP	ENST00000369068.4	37	c.4104C>T	CCDS44216.1																																																																																				0.617	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		16	75	0	0	0	1	0	16	75				
CCDC71	64925	broad.mit.edu	37	3	49200836	49200836	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:49200836C>T	ENST00000321895.6	-	2	912	c.806G>A	c.(805-807)cGa>cAa	p.R269Q		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	269										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCTTTCATTCGCCGGACACT	0.632																																						ENST00000321895.6																			0				endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10						c.(805-807)cGa>cAa		coiled-coil domain containing 71							61.0	65.0	63.0					3																	49200836		2203	4300	6503	SO:0001583	missense	64925							g.chr3:49200836C>T	AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.806G>A	3.37:g.49200836C>T	ENSP00000319006:p.Arg269Gln						p.R269Q	NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	912	-			269					Q6IPE2|Q9H8H4|Q9H9F1	Missense_Mutation	SNP	ENST00000321895.6	37	c.806G>A	CCDS2790.1	.	.	.	.	.	.	.	.	.	.	c	3.317	-0.139547	0.06669	.	.	ENSG00000177352	ENST00000321895	T	0.29142	1.58	5.27	-8.49	0.00931	.	1.855860	0.03086	N	0.159154	T	0.25269	0.0614	L	0.35723	1.085	0.09310	N	1	B	0.17268	0.021	B	0.12837	0.008	T	0.12967	-1.0527	10	0.27785	T	0.31	-30.2096	16.5271	0.84334	0.0:0.2755:0.0:0.7245	.	269	Q8IV32	CCD71_HUMAN	Q	269	ENSP00000319006:R269Q	ENSP00000319006:R269Q	R	-	2	0	CCDC71	49175840	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.955000	0.03869	-2.566000	0.00470	-1.282000	0.01380	CGA		0.632	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345980.1	NM_022903		17	67	0	0	0	1	0	17	67				
SYNE3	161176	broad.mit.edu	37	14	95923584	95923584	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr14:95923584A>G	ENST00000334258.5	-	4	733	c.719T>C	c.(718-720)gTg>gCg	p.V240A	SYNE3_ENST00000554873.1_5'Flank|SYNE3_ENST00000557275.1_Missense_Mutation_p.V240A|SYNE3_ENST00000553340.1_Missense_Mutation_p.V240A	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	240					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CACCTTCTCCACCACCGCCTT	0.617																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(718-720)gTg>gCg		spectrin repeat containing, nuclear envelope family member 3							189.0	145.0	160.0					14																	95923584		2203	4300	6503	SO:0001583	missense	161176							g.chr14:95923584A>G	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.719T>C	14.37:g.95923584A>G	ENSP00000334308:p.Val240Ala					SYNE3_ENST00000553340.1_Missense_Mutation_p.V240A|SYNE3_ENST00000557275.1_Missense_Mutation_p.V240A	p.V240A	NM_152592.3	NP_689805.3					4	733	-								A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.719T>C	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.906222	0.33628	.	.	ENSG00000176438	ENST00000334258;ENST00000557275;ENST00000553340	T;T;T	0.09350	3.57;3.57;2.99	5.59	0.463	0.16700	.	0.835984	0.09999	N	0.728666	T	0.08758	0.0217	M	0.63428	1.95	0.19775	N	0.999955	P;P;P	0.42692	0.787;0.469;0.682	B;B;B	0.36567	0.228;0.167;0.114	T	0.27262	-1.0079	10	0.08837	T	0.75	-11.7761	5.1672	0.15092	0.486:0.1534:0.3607:0.0	.	240;240;240	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	A	240	ENSP00000334308:V240A;ENSP00000450562:V240A;ENSP00000450774:V240A	ENSP00000334308:V240A	V	-	2	0	C14orf49	94993337	0.214000	0.23563	0.104000	0.21259	0.812000	0.45895	0.982000	0.29539	0.053000	0.16036	0.454000	0.30748	GTG		0.617	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		47	152	0	0	0	1	0	47	152				
KDM2B	84678	broad.mit.edu	37	12	121880094	121880094	+	Silent	SNP	G	G	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr12:121880094G>T	ENST00000377071.4	-	19	3222	c.3150C>A	c.(3148-3150)ccC>ccA	p.P1050P	KDM2B_ENST00000377069.4_Silent_p.P981P|KDM2B_ENST00000542973.1_Silent_p.P418P|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1050	Pro-rich.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AGTCAGGCGGGGGGCTGATGG	0.677																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2941-2943)ccC>ccA		lysine (K)-specific demethylase 2B							14.0	16.0	16.0					12																	121880094		1911	4089	6000	SO:0001819	synonymous_variant	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880094G>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3150C>A	12.37:g.121880094G>T						KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Silent_p.P1050P|KDM2B_ENST00000542973.1_Silent_p.P418P	p.P981P	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			18	3349	-			1050					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	c.2943C>A	CCDS41850.1																																																																																				0.677	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		12	22	1	0	0.0167234	1	0.0168247	12	22				
PGLYRP1	8993	broad.mit.edu	37	19	46522516	46522516	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr19:46522516G>A	ENST00000008938.4	-	3	614	c.571C>T	c.(571-573)Cca>Tca	p.P191S	MIR769_ENST00000390225.1_RNA|CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	191					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CGGTAGTGTGGCCAATTCTGG	0.572																																						ENST00000008938.4																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10						c.(571-573)Cca>Tca		peptidoglycan recognition protein 1							198.0	197.0	197.0					19																	46522516		2203	4300	6503	SO:0001583	missense	8993				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:46522516G>A	AF076483	CCDS12680.1	19q13.2-q13.3	2008-02-05	2004-03-17	2004-03-19		ENSG00000008438			8904	protein-coding gene	gene with protein product		604963	"""peptidoglycan recognition protein"""	TNFSF3L, PGLYRP		9707603, 12669421	Standard	NM_005091		Approved	TAG7, PGRP, PGRP-S, PGRPS	uc002pdx.2	O75594		ENST00000008938.4:c.571C>T	19.37:g.46522516G>A	ENSP00000008938:p.Pro191Ser					CCDC61_ENST00000601763.1_Intron	p.P191S	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)	3	614	-		all_neural(266;0.113)|Ovarian(192;0.127)	191					Q4VB36	Missense_Mutation	SNP	ENST00000008938.4	37	c.571C>T	CCDS12680.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555650	0.27739	.	.	ENSG00000008438	ENST00000008938	T	0.47177	0.85	4.43	0.642	0.17765	N-acetylmuramoyl-L-alanine amidase domain (2);	0.512633	0.16893	N	0.195241	T	0.37625	0.1010	M	0.64170	1.965	0.23101	N	0.998299	B	0.09022	0.002	B	0.06405	0.002	T	0.31833	-0.9929	10	0.46703	T	0.11	-1.2547	3.0182	0.06066	0.1042:0.1822:0.5401:0.1735	.	191	O75594	PGRP1_HUMAN	S	191	ENSP00000008938:P191S	ENSP00000008938:P191S	P	-	1	0	PGLYRP1	51214356	0.995000	0.38212	0.163000	0.22734	0.059000	0.15707	0.874000	0.28065	0.020000	0.15106	0.450000	0.29827	CCA		0.572	PGLYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461695.1	NM_005091		11	38	0	0	0	1	0	11	38				
GAS2L1	10634	broad.mit.edu	37	22	29704529	29704529	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr22:29704529G>A	ENST00000406549.3	+	2	584	c.434G>A	c.(433-435)cGg>cAg	p.R145Q	GAS2L1_ENST00000341313.6_Missense_Mutation_p.R145Q|GAS2L1_ENST00000360113.2_Missense_Mutation_p.R145Q|GAS2L1_ENST00000403764.1_Missense_Mutation_p.R145Q|GAS2L1_ENST00000471961.1_Missense_Mutation_p.R145Q|GAS2L1_ENST00000407647.2_Missense_Mutation_p.R145Q|GAS2L1_ENST00000407854.1_Missense_Mutation_p.R145Q	NM_001278730.1	NP_001265659.1	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	145	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell cycle arrest (GO:0007050)|cellular response to starvation (GO:0009267)|cellular response to thyroid hormone stimulus (GO:0097067)|microtubule bundle formation (GO:0001578)|negative regulation of cell growth (GO:0030308)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of gene expression (GO:0010629)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)|thyroid hormone receptor binding (GO:0046966)			endometrium(2)|lung(2)|prostate(1)	5						GAGGTGGCGCGGCGTGGGGCA	0.677																																						ENST00000471961.1																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(433-435)cGg>cAg		growth arrest-specific 2 like 1							33.0	35.0	34.0					22																	29704529		2198	4295	6493	SO:0001583	missense	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29704529G>A	BC001782	CCDS63438.1, CCDS74840.1	22q12.2	2008-06-11			ENSG00000185340	ENSG00000185340			16955	protein-coding gene	gene with protein product		602128				8975699, 12584248, 1607387	Standard	NM_001278730		Approved	GAR22	uc003afc.1	Q99501	OTTHUMG00000151108	ENST00000406549.3:c.434G>A	22.37:g.29704529G>A	ENSP00000383995:p.Arg145Gln					GAS2L1_ENST00000360113.2_Missense_Mutation_p.R145Q|GAS2L1_ENST00000403764.1_Missense_Mutation_p.R145Q|GAS2L1_ENST00000341313.6_Missense_Mutation_p.R145Q|GAS2L1_ENST00000406549.3_Missense_Mutation_p.R145Q|GAS2L1_ENST00000407647.2_Missense_Mutation_p.R145Q|GAS2L1_ENST00000407854.1_Missense_Mutation_p.R145Q	p.R145Q			Q99501	GA2L1_HUMAN			1	1482	+			145			CH.		B5MCR7|Q53EN7|Q92640|Q9BUY9	Missense_Mutation	SNP	ENST00000406549.3	37	c.434G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.665809	0.96745	.	.	ENSG00000185340	ENST00000407647;ENST00000333679;ENST00000406549;ENST00000360113;ENST00000341313;ENST00000403764;ENST00000471961;ENST00000407854	D;D;D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66	4.85	4.85	0.62838	Calponin homology domain (4);	0.000000	0.64402	D	0.000005	D	0.97736	0.9257	M	0.90198	3.095	0.49582	D	0.999809	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;0.995;0.995	D	0.98866	1.0764	10	0.87932	D	0	-15.6189	17.5572	0.87896	0.0:0.0:1.0:0.0	.	145;145;145;145	B5MCR7;E7EQM6;A0A5E8;Q99501	.;.;.;GA2L1_HUMAN	Q	145	ENSP00000385554:R145Q;ENSP00000383995:R145Q;ENSP00000353229:R145Q;ENSP00000344012:R145Q;ENSP00000385358:R145Q;ENSP00000450152:R145Q;ENSP00000385023:R145Q	ENSP00000332834:R145Q	R	+	2	0	GAS2L1	28034529	1.000000	0.71417	0.984000	0.44739	0.728000	0.41692	9.805000	0.99149	2.250000	0.74265	0.491000	0.48974	CGG		0.677	GAS2L1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321365.1	NM_006478		8	12	0	0	0	1	0	8	12				
CACTIN	58509	broad.mit.edu	37	19	3614477	3614477	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr19:3614477T>A	ENST00000429344.2	-	7	1325	c.1273A>T	c.(1273-1275)Atc>Ttc	p.I425F	CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Missense_Mutation_p.I357F|CACTIN_ENST00000248420.5_Missense_Mutation_p.I425F	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	425					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CCAGCGCGGATTTTGCCCTCG	0.632																																						ENST00000429344.2																			0											c.(1273-1275)Atc>Ttc		cactin, spliceosome C complex subunit							60.0	71.0	67.0					19																	3614477		2070	4207	6277	SO:0001583	missense	58509							g.chr19:3614477T>A	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.1273A>T	19.37:g.3614477T>A	ENSP00000415078:p.Ile425Phe					CACTIN_ENST00000221899.3_Missense_Mutation_p.I357F|CACTIN_ENST00000248420.5_Missense_Mutation_p.I425F	p.I425F	NM_001080543.1	NP_001074012.1					7	1325	-								A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	ENST00000429344.2	37	c.1273A>T	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.545430	0.86022	.	.	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000446452;ENST00000221899	.	.	.	4.51	4.51	0.55191	Cactin, domain (1);	0.059307	0.64402	D	0.000003	T	0.79805	0.4509	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	0.971;1.0	P;D	0.78314	0.839;0.991	T	0.83247	-0.0055	9	0.72032	D	0.01	.	12.7901	0.57528	0.0:0.0:0.0:1.0	.	425;425	Q8WUQ7-2;Q8WUQ7	.;CS029_HUMAN	F	425;425;237;357	.	ENSP00000221899:I357F	I	-	1	0	C19orf29	3565477	1.000000	0.71417	0.995000	0.50966	0.770000	0.43624	5.705000	0.68355	1.893000	0.54813	0.459000	0.35465	ATC		0.632	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			4	14	0	0	0	1	0	4	14				
SDCCAG3	10807	broad.mit.edu	37	9	139301921	139301921	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr9:139301921C>A	ENST00000357365.3	-	5	624	c.495G>T	c.(493-495)gaG>gaT	p.E165D	SDCCAG3_ENST00000298537.7_Missense_Mutation_p.E142D|SDCCAG3_ENST00000371725.3_Missense_Mutation_p.E92D|SDCCAG3_ENST00000461693.1_5'Flank	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	165						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CTGTCGGATCCTCGAAAAATG	0.607																																						ENST00000298537.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16						c.(424-426)gaG>gaT		serologically defined colon cancer antigen 3							24.0	29.0	28.0					9																	139301921		1959	4140	6099	SO:0001583	missense	10807					cytoplasm		g.chr9:139301921C>A	AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.495G>T	9.37:g.139301921C>A	ENSP00000349929:p.Glu165Asp					SDCCAG3_ENST00000371725.3_Missense_Mutation_p.E92D|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.E165D	p.E142D	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)	4	637	-		Myeloproliferative disorder(178;0.0511)	165					A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	ENST00000357365.3	37	c.426G>T	CCDS43904.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380584	0.24944	.	.	ENSG00000165689	ENST00000357365;ENST00000298537;ENST00000371725;ENST00000371723	T;T;T;T	0.33438	2.41;2.44;2.43;1.41	5.27	2.48	0.30137	.	0.469877	0.21768	N	0.069405	T	0.28067	0.0692	L	0.54323	1.7	0.29654	N	0.843749	B;B;B	0.26902	0.163;0.163;0.163	B;B;B	0.32533	0.147;0.147;0.147	T	0.19976	-1.0289	10	0.29301	T	0.29	-32.0904	8.0885	0.30786	0.0:0.1903:0.0:0.8097	.	92;142;165	Q96C92-4;Q96C92-2;Q96C92	.;.;SDCG3_HUMAN	D	165;142;92;115	ENSP00000349929:E165D;ENSP00000298537:E142D;ENSP00000360790:E92D;ENSP00000360788:E115D	ENSP00000298537:E142D	E	-	3	2	SDCCAG3	138421742	0.909000	0.30893	0.980000	0.43619	0.016000	0.09150	0.008000	0.13197	0.228000	0.21019	-0.300000	0.09419	GAG		0.607	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055060.2	NM_006643		7	21	1	0	0.0293803	1	0.0293803	7	21				
PAK2	5062	broad.mit.edu	37	3	196509524	196509524	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:196509524G>C	ENST00000327134.3	+	2	329	c.7G>C	c.(7-9)Gat>Cat	p.D3H	RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	3					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AATCATGTCTGATAACGGAGA	0.403																																						ENST00000327134.3																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12						c.(7-9)Gat>Cat		p21 protein (Cdc42/Rac)-activated kinase 2							83.0	89.0	87.0					3																	196509524		2203	4300	6503	SO:0001583	missense	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196509524G>C	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.7G>C	3.37:g.196509524G>C	ENSP00000314067:p.Asp3His						p.D3H	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	2	329	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		3					Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	c.7G>C	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623637	0.87460	.	.	ENSG00000180370	ENST00000327134	T	0.72167	-0.63	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.79511	0.4458	M	0.65498	2.005	0.80722	D	1	P	0.48407	0.91	P	0.52758	0.708	T	0.81947	-0.0700	10	0.72032	D	0.01	.	18.756	0.91833	0.0:0.0:1.0:0.0	.	3	Q13177	PAK2_HUMAN	H	3	ENSP00000314067:D3H	ENSP00000314067:D3H	D	+	1	0	PAK2	197993921	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.143000	0.94623	2.456000	0.83038	0.655000	0.94253	GAT		0.403	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		13	149	0	0	0	1	0	13	149				
MYH6	4624	broad.mit.edu	37	14	23874911	23874911	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr14:23874911C>A	ENST00000356287.3	-	3	299	c.270G>T	c.(268-270)atG>atT	p.M90I	MYH6_ENST00000405093.3_Missense_Mutation_p.M90I			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	90	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCAGCATGGCCATGTCCTCAA	0.577																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(268-270)atG>atT		myosin, heavy chain 6, cardiac muscle, alpha							259.0	179.0	206.0					14																	23874911		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23874911C>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.270G>T	14.37:g.23874911C>A	ENSP00000348634:p.Met90Ile					MYH6_ENST00000356287.3_Missense_Mutation_p.M90I	p.M90I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	4	340	-	all_cancers(95;2.54e-05)		90			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.270G>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	28.2	4.900666	0.92035	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.72615	-0.67;-0.67	3.87	3.87	0.44632	Myosin head, motor domain (2);	.	.	.	.	D	0.86936	0.6053	H	0.96048	3.76	0.52099	D	0.999947	P;P	0.41188	0.741;0.741	P;P	0.54174	0.744;0.744	D	0.91285	0.5054	9	0.87932	D	0	.	16.019	0.80468	0.0:1.0:0.0:0.0	.	90;90	D9YZU2;P13533	.;MYH6_HUMAN	I	90	ENSP00000386041:M90I;ENSP00000348634:M90I	ENSP00000348634:M90I	M	-	3	0	MYH6	22944751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.474000	0.81024	2.146000	0.66826	0.550000	0.68814	ATG		0.577	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			22	93	1	0	2.89027e-11	1	3.01751e-11	22	93				
AFF3	3899	broad.mit.edu	37	2	100185340	100185340	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:100185340G>A	ENST00000409236.2	-	17	3068	c.2956C>T	c.(2956-2958)Cga>Tga	p.R986*	AFF3_ENST00000356421.2_Nonsense_Mutation_p.R1011*|AFF3_ENST00000409579.1_Nonsense_Mutation_p.R1011*|AFF3_ENST00000317233.4_Nonsense_Mutation_p.R986*			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	986					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGCTTCATTCGTTTAGCTTCT	0.378																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2956-2958)Cga>Tga		AF4/FMR2 family, member 3							194.0	177.0	183.0					2																	100185340		2203	4300	6503	SO:0001587	stop_gained	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100185340G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2956C>T	2.37:g.100185340G>A	ENSP00000387207:p.Arg986*					AFF3_ENST00000409579.1_Nonsense_Mutation_p.R1011*|AFF3_ENST00000409236.1_Nonsense_Mutation_p.R986*|AFF3_ENST00000356421.2_Nonsense_Mutation_p.R1011*	p.R986*	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			18	3191	-			986					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Nonsense_Mutation	SNP	ENST00000409236.2	37	c.2956C>T	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	43	10.026007	0.99320	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000445815	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	16.1124	0.81273	0.0:0.0:0.8657:0.1343	.	.	.	.	X	986;1011;1011;986;28	.	ENSP00000317421:R986X	R	-	1	2	AFF3	99551772	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.778000	0.62368	2.941000	0.99782	0.655000	0.94253	CGA		0.378	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		22	118	0	0	0	1	0	22	118				
DHX16	8449	broad.mit.edu	37	6	30638812	30638812	+	Splice_Site	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:30638812C>T	ENST00000376442.3	-	2	642		c.e2+1			NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						TTCTGACTTACCCTGTTTTCT	0.512																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.e2+1		DEAH (Asp-Glu-Ala-His) box polypeptide 16							221.0	172.0	189.0					6																	30638812		1511	2709	4220	SO:0001630	splice_region_variant	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30638812C>T	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.446+1G>A	6.37:g.30638812C>T								NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			2	642	-								O60322|Q5JP45|Q969X7|Q96QC1	Splice_Site	SNP	ENST00000376442.3	37		CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386622	0.42308	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	.	.	.	5.27	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2627	0.66094	0.0:0.8497:0.1503:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DHX16	30746791	0.756000	0.28383	0.957000	0.39632	0.546000	0.35178	2.642000	0.46596	2.463000	0.83235	0.557000	0.71058	.		0.512	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587	Intron	47	152	0	0	0	1	0	47	152				
NIN	51199	broad.mit.edu	37	14	51206184	51206184	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr14:51206184T>A	ENST00000382041.3	-	26	5660	c.5470A>T	c.(5470-5472)Act>Tct	p.T1824S	NIN_ENST00000382043.4_Missense_Mutation_p.T1111S|NIN_ENST00000530997.2_Missense_Mutation_p.T1824S|NIN_ENST00000453196.1_Missense_Mutation_p.T1824S|NIN_ENST00000324330.9_Missense_Mutation_p.T1824S|NIN_ENST00000245441.5_Missense_Mutation_p.T1824S|NIN_ENST00000389868.3_Missense_Mutation_p.T1111S	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1824					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GATGGATGAGTAGCTATCTCT	0.458			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(5470-5472)Act>Tct		ninein (GSK3B interacting protein)							140.0	130.0	133.0					14																	51206184		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51206184T>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.5470A>T	14.37:g.51206184T>A	ENSP00000371472:p.Thr1824Ser					NIN_ENST00000530997.2_Missense_Mutation_p.T1824S|NIN_ENST00000453196.1_Missense_Mutation_p.T1824S|NIN_ENST00000389868.3_Missense_Mutation_p.T1111S|NIN_ENST00000382041.3_Missense_Mutation_p.T1824S|NIN_ENST00000382043.4_Missense_Mutation_p.T1111S|NIN_ENST00000324330.9_Missense_Mutation_p.T1824S	p.T1824S	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			26	5660	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1824					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.5470A>T	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	0.023|0.023	-1.398300|-1.398300	0.01175|0.01175	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T;T;T|.	0.64618|.	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11|.	5.63|5.63	1.91|1.91	0.25777|0.25777	.|.	0.587187|.	0.17439|.	N|.	0.174190|.	T|T	0.34861|0.34861	0.0912|0.0912	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.24882|.	0.028;0.007;0.013;0.113;0.002|.	B;B;B;B;B|.	0.22601|.	0.01;0.004;0.007;0.04;0.005|.	T|T	0.30679|0.30679	-0.9970|-0.9970	10|5	0.09338|.	T|.	0.73|.	-0.1725|-0.1725	1.4415|1.4415	0.02355|0.02355	0.1304:0.2176:0.1356:0.5164|0.1304:0.2176:0.1356:0.5164	.|.	1830;1824;1824;1111;1824|.	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7|.	.;.;NIN_HUMAN;.;.|.	S|F	1824;1807;1111;1111;1830;1824;1824;1824|1314	ENSP00000245441:T1824S;ENSP00000374518:T1111S;ENSP00000371474:T1111S;ENSP00000371472:T1824S;ENSP00000324210:T1824S;ENSP00000412391:T1824S|.	ENSP00000245441:T1824S|.	T|Y	-|-	1|2	0|0	NIN|NIN	50275934|50275934	0.373000|0.373000	0.25073|0.25073	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	0.080000|0.080000	0.14802|0.14802	0.142000|0.142000	0.18901|0.18901	-0.253000|-0.253000	0.11424|0.11424	ACT|TAC		0.458	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		23	73	0	0	0	1	0	23	73				
TRAK2	66008	broad.mit.edu	37	2	202248909	202248909	+	Missense_Mutation	SNP	G	G	A	rs373635648		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:202248909G>A	ENST00000332624.3	-	15	2422	c.1994C>T	c.(1993-1995)tCg>tTg	p.S665L		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	665					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GTTTGTGCACGACAGGCACTT	0.423																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(1993-1995)tCg>tTg		trafficking protein, kinesin binding 2		G	LEU/SER	0,4406		0,0,2203	117.0	117.0	117.0		1994	5.8	1.0	2		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRAK2	NM_015049.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	665/915	202248909	1,13005	2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202248909G>A	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1994C>T	2.37:g.202248909G>A	ENSP00000328875:p.Ser665Leu						p.S665L	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			15	2422	-			665	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.1994C>T	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306173	0.81247	0.0	1.16E-4	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.08546	3.08	5.77	5.77	0.91146	.	0.497390	0.21549	N	0.072766	T	0.20455	0.0492	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	P	0.60173	0.87	T	0.00073	-1.2125	10	0.39692	T	0.17	.	15.4491	0.75259	0.0:0.1383:0.8617:0.0	.	665	O60296	TRAK2_HUMAN	L	665;571	ENSP00000328875:S665L	ENSP00000328875:S665L	S	-	2	0	TRAK2	201957154	1.000000	0.71417	0.979000	0.43373	0.886000	0.51366	4.619000	0.61218	2.710000	0.92621	0.591000	0.81541	TCG		0.423	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		15	64	0	0	0	1	0	15	64				
LRRIQ4	344657	broad.mit.edu	37	3	169546595	169546595	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:169546595A>T	ENST00000340806.6	+	2	1069	c.1069A>T	c.(1069-1071)Aca>Tca	p.T357S		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	357								p.T357P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACTTGGACTAACAGGAAATGA	0.368																																						ENST00000340806.6																			1	Substitution - Missense(1)	p.T357P(1)	large_intestine(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(1069-1071)Aca>Tca		leucine-rich repeats and IQ motif containing 4							102.0	100.0	100.0					3																	169546595		1829	4092	5921	SO:0001583	missense	344657							g.chr3:169546595A>T		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.1069A>T	3.37:g.169546595A>T	ENSP00000342188:p.Thr357Ser						p.T357S	NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN			2	1069	+			357						Missense_Mutation	SNP	ENST00000340806.6	37	c.1069A>T	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.704592	0.30232	.	.	ENSG00000188306	ENST00000340806	T	0.10960	2.82	5.77	1.85	0.25348	.	0.400742	0.22964	N	0.053514	T	0.01940	0.0061	N	0.00092	-2.175	0.22745	N	0.99878	P	0.37955	0.612	B	0.40101	0.319	T	0.46789	-0.9166	10	0.02654	T	1	.	11.0467	0.47863	0.5287:0.0:0.0:0.4713	.	357	A6NIV6	LRIQ4_HUMAN	S	357	ENSP00000342188:T357S	ENSP00000342188:T357S	T	+	1	0	LRRIQ4	171029289	0.011000	0.17503	0.676000	0.29932	0.964000	0.63967	0.644000	0.24766	0.065000	0.16485	0.533000	0.62120	ACA		0.368	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		19	75	0	0	0	1	0	19	75				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			29	42	0	0	0	1	0	29	42				
DIEXF	27042	broad.mit.edu	37	1	210014234	210014234	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:210014234C>G	ENST00000491415.2	+	8	1376	c.1319C>G	c.(1318-1320)gCc>gGc	p.A440G		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	440					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CGACTCTATGCCCCGTTTTAC	0.473																																						ENST00000491415.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(1318-1320)gCc>gGc		digestive organ expansion factor homolog (zebrafish)							169.0	162.0	164.0					1																	210014234		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210014234C>G	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1319C>G	1.37:g.210014234C>G	ENSP00000419005:p.Ala440Gly						p.A440G	NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN			8	1376	+			440					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.1319C>G	CCDS1493.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.941367|4.941367	0.92526|0.92526	.|.	.|.	ENSG00000117597|ENSG00000117597	ENST00000491415|ENST00000457820	T|.	0.48201|.	0.82|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.227351|.	0.45867|.	D|.	0.000330|.	T|T	0.73401|0.73401	0.3582|0.3582	M|M	0.65498|0.65498	2.005|2.005	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.56746|.	0.977|.	P|.	0.54544|.	0.755|.	T|T	0.72475|0.72475	-0.4282|-0.4282	10|5	0.72032|.	D|.	0.01|.	-18.5955|-18.5955	17.1098|17.1098	0.86672|0.86672	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	440|.	Q68CQ4|.	DIEXF_HUMAN|.	G|A	440|121	ENSP00000419005:A440G|.	ENSP00000419005:A440G|.	A|P	+|+	2|1	0|0	DIEXF|DIEXF	208080857|208080857	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.819000|0.819000	0.46315|0.46315	7.642000|7.642000	0.83385|0.83385	2.461000|2.461000	0.83175|0.83175	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.473	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		13	84	0	0	0	1	0	13	84				
MGAT4C	25834	broad.mit.edu	37	12	86373679	86373679	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr12:86373679A>C	ENST00000604798.1	-	8	2029	c.825T>G	c.(823-825)ttT>ttG	p.F275L	MGAT4C_ENST00000549405.2_Missense_Mutation_p.F275L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.F275L|MGAT4C_ENST00000552808.2_Missense_Mutation_p.F275L|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Missense_Mutation_p.F304L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.F275L			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	275					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACATTAATAAAAAATGGGCCA	0.388																																						ENST00000604798.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(823-825)ttT>ttG		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)							60.0	60.0	60.0					12																	86373679		2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373679A>C		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.825T>G	12.37:g.86373679A>C	ENSP00000474896:p.Phe275Leu					MGAT4C_ENST00000549405.2_Missense_Mutation_p.F275L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.F275L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.F275L|MGAT4C_ENST00000552808.2_Missense_Mutation_p.F275L|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Missense_Mutation_p.F304L	p.F275L			Q9UBM8	MGT4C_HUMAN			8	2029	-			275					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.825T>G	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.941420	0.34283	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07;0.07	5.75	3.41	0.39046	.	0.000000	0.85682	D	0.000000	T	0.73768	0.3629	M	0.80982	2.52	0.46416	D	0.999032	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73000	-0.4120	10	0.56958	D	0.05	-18.9604	9.6151	0.39687	0.8569:0.0:0.1431:0.0	.	304;275	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	L	275;304;275;275;275;275;275	ENSP00000331664:F275L;ENSP00000376900:F304L;ENSP00000449022:F275L;ENSP00000446647:F275L;ENSP00000447253:F275L;ENSP00000449172:F275L	ENSP00000331664:F275L	F	-	3	2	MGAT4C	84897810	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	4.541000	0.60670	0.459000	0.27016	-0.296000	0.09543	TTT		0.388	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		8	61	0	0	0	1	0	8	61				
TP53	7157	broad.mit.edu	37	17	7579359	7579359	+	Missense_Mutation	SNP	G	G	A	rs587781371|rs587780066		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr17:7579359G>A	ENST00000269305.4	-	4	517	c.328C>T	c.(328-330)Cgt>Tgt	p.R110C	TP53_ENST00000445888.2_Missense_Mutation_p.R110C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R110C|TP53_ENST00000455263.2_Missense_Mutation_p.R110C|TP53_ENST00000359597.4_Missense_Mutation_p.R110C|TP53_ENST00000420246.2_Missense_Mutation_p.R110C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654). {ECO:0000269|PubMed:17224074}.|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R110fs*13(9)|p.0?(8)|p.R110C(7)|p.G59fs*23(3)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)|p.R110fs*18(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.R110S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAGCCCAGACGGAAACCGTAG	0.607		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		41	Deletion - Frameshift(17)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(3)|Insertion - Frameshift(2)|Complex - deletion inframe(2)|Insertion - In frame(1)	p.R110fs*13(9)|p.0?(8)|p.R110C(7)|p.G59fs*23(3)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)|p.R110fs*18(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.R110S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)	breast(11)|upper_aerodigestive_tract(4)|bone(4)|large_intestine(3)|lung(3)|NS(3)|prostate(3)|central_nervous_system(2)|liver(2)|skin(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|salivary_gland(1)|oesophagus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(328-330)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							62.0	59.0	60.0					17																	7579359		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579359G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.328C>T	17.37:g.7579359G>A	ENSP00000269305:p.Arg110Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R110C|TP53_ENST00000445888.2_Missense_Mutation_p.R110C|TP53_ENST00000455263.2_Missense_Mutation_p.R110C|TP53_ENST00000413465.2_Missense_Mutation_p.R110C|TP53_ENST00000359597.4_Missense_Mutation_p.R110C	p.R110C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	460	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	110		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.328C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554385	0.27739	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99773	-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72	4.75	0.0479	0.14282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.808524	0.11806	N	0.527643	D	0.99330	0.9765	L	0.52759	1.655	0.24591	N	0.993824	D;B;B;D;B;B;D	0.89917	1.0;0.205;0.032;0.996;0.05;0.021;0.999	D;B;B;P;B;B;P	0.64877	0.93;0.086;0.024;0.766;0.061;0.041;0.861	D	0.98545	1.0634	10	0.87932	D	0	-0.2466	3.1911	0.06618	0.0868:0.1448:0.3246:0.4438	.	71;110;110;110;110;110;110	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	110	ENSP00000410739:R110C;ENSP00000352610:R110C;ENSP00000269305:R110C;ENSP00000398846:R110C;ENSP00000391127:R110C;ENSP00000391478:R110C;ENSP00000424104:R110C;ENSP00000426252:R110C	ENSP00000269305:R110C	R	-	1	0	TP53	7520084	0.045000	0.20229	0.111000	0.21465	0.951000	0.60555	0.025000	0.13577	-0.013000	0.14199	0.655000	0.94253	CGT		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	136	0	0	0	1	0	5	136				
SPINT1	6692	broad.mit.edu	37	15	41149144	41149144	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:41149144G>T	ENST00000344051.4	+	11	1795	c.1561G>T	c.(1561-1563)Gtc>Ttc	p.V521F	SPINT1_ENST00000431806.1_Missense_Mutation_p.V505F|SPINT1_ENST00000562057.1_Missense_Mutation_p.V505F			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	521					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGAGCACCTGGTCTATAACCA	0.622																																						ENST00000344051.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(1561-1563)Gtc>Ttc		serine peptidase inhibitor, Kunitz type 1							165.0	168.0	167.0					15																	41149144		2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41149144G>T		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.1561G>T	15.37:g.41149144G>T	ENSP00000342098:p.Val521Phe					SPINT1_ENST00000431806.1_Missense_Mutation_p.V505F|SPINT1_ENST00000562057.1_Missense_Mutation_p.V505F	p.V521F			O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	11	1795	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	521					Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.1561G>T	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318033	0.60524	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.96774	-4.12;-4.12	5.49	5.49	0.81192	.	0.124215	0.52532	D	0.000063	D	0.96956	0.9006	M	0.66506	2.035	0.58432	D	0.999997	B;D;P	0.62365	0.229;0.991;0.56	B;P;B	0.57548	0.132;0.823;0.132	D	0.96368	0.9271	10	0.42905	T	0.14	-38.3424	14.9282	0.70896	0.0:0.0:0.8562:0.1437	.	505;505;521	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	F	521;488;505	ENSP00000342098:V521F;ENSP00000409935:V505F	ENSP00000342098:V521F	V	+	1	0	SPINT1	38936436	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	6.341000	0.72977	2.588000	0.87417	0.462000	0.41574	GTC		0.622	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		23	185	1	0	5.45024e-15	1	5.79961e-15	23	185				
PRTG	283659	broad.mit.edu	37	15	55929437	55929437	+	Missense_Mutation	SNP	G	G	C	rs565497553		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:55929437G>C	ENST00000389286.4	-	15	2601	c.2554C>G	c.(2554-2556)Cgc>Ggc	p.R852G		NM_173814.4	NP_776175.2			protogenin									p.R852S(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ATAGTATAGCGGGTCACAACT	0.473																																						ENST00000389286.4																			1	Substitution - Missense(1)	p.R852S(1)	lung(1)	breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(2554-2556)Cgc>Ggc		protogenin							150.0	150.0	150.0					15																	55929437		1874	4096	5970	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55929437G>C	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2554C>G	15.37:g.55929437G>C	ENSP00000373937:p.Arg852Gly						p.R852G	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	15	2601	-			852			Fibronectin type-III 5.			Missense_Mutation	SNP	ENST00000389286.4	37	c.2554C>G	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484877	0.63962	.	.	ENSG00000166450	ENST00000389286	T	0.51817	0.69	5.6	5.6	0.85130	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.134693	0.51477	D	0.000100	T	0.32645	0.0836	N	0.02665	-0.54	0.80722	D	1	D	0.58620	0.983	P	0.54706	0.759	T	0.23868	-1.0176	10	0.10636	T	0.68	-11.9953	13.55	0.61726	0.0:0.0:0.8444:0.1556	.	852	Q2VWP7	PRTG_HUMAN	G	852	ENSP00000373937:R852G	ENSP00000373937:R852G	R	-	1	0	PRTG	53716729	1.000000	0.71417	0.923000	0.36655	0.874000	0.50279	7.161000	0.77505	2.625000	0.88918	0.655000	0.94253	CGC		0.473	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		13	139	0	0	0	1	0	13	139				
ARSI	340075	broad.mit.edu	37	5	149677718	149677718	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:149677718T>A	ENST00000328668.7	-	2	1348	c.769A>T	c.(769-771)Aat>Tat	p.N257Y		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	257					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGGCCACATTGCCCATGGTG	0.612																																						ENST00000328668.7																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(769-771)Aat>Tat		arylsulfatase family, member I							51.0	47.0	48.0					5																	149677718		2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677718T>A	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.769A>T	5.37:g.149677718T>A	ENSP00000333395:p.Asn257Tyr						p.N257Y	NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1348	-			257					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.769A>T	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.845324	0.51164	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.98633	-5.04;-5.04	4.46	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98807	0.9598	M	0.72353	2.195	0.80722	D	1	D	0.60160	0.987	D	0.70016	0.967	D	0.99425	1.0934	10	0.59425	D	0.04	.	14.1888	0.65625	0.0:0.0:0.0:1.0	.	257	Q5FYB1	ARSI_HUMAN	Y	257;114	ENSP00000333395:N257Y;ENSP00000426879:N114Y	ENSP00000333395:N257Y	N	-	1	0	ARSI	149657911	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.816000	0.86201	1.991000	0.58162	0.459000	0.35465	AAT		0.612	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		19	34	0	0	0	1	0	19	34				
PAK6	56924	broad.mit.edu	37	15	40566440	40566440	+	Missense_Mutation	SNP	G	G	A	rs143844489		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:40566440G>A	ENST00000542403.2	+	8	1952	c.1841G>A	c.(1840-1842)cGg>cAg	p.R614Q	RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.R614Q|PAK6_ENST00000441369.1_Missense_Mutation_p.R614Q|PAK6_ENST00000455577.2_Intron|PAK6_ENST00000260404.4_Missense_Mutation_p.R614Q|PAK6_ENST00000453867.1_Missense_Mutation_p.R614Q	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	614	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		AAGAGGCTCCGGGACAGCCCC	0.577											OREG0023057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000560346.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(1840-1842)cGg>cAg		p21 protein (Cdc42/Rac)-activated kinase 6		G	GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	80.0	85.0	83.0		1841,1841,1841	5.0	1.0	15	dbSNP_134	83	0,8600		0,0,4300	no	missense,missense,missense	PAK6	NM_001128628.1,NM_001128629.1,NM_020168.4	43,43,43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	614/682,614/682,614/682	40566440	2,13004	2203	4300	6503	SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40566440G>A	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1841G>A	15.37:g.40566440G>A	ENSP00000439597:p.Arg614Gln		OREG0023057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	894	PAK6_ENST00000453867.1_Missense_Mutation_p.R614Q|PAK6_ENST00000542403.2_Missense_Mutation_p.R614Q|PAK6_ENST00000441369.1_Missense_Mutation_p.R614Q|PAK6_ENST00000260404.4_Missense_Mutation_p.R614Q|PAK6_ENST00000455577.2_Intron|RP11-133K1.2_ENST00000558658.1_3'UTR	p.R614Q			Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	10	2424	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	614			Protein kinase.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.1841G>A	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575930	0.86645	4.54E-4	0.0	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000260404;ENST00000542403	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	4.96	4.96	0.65561	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67496	0.2899	N	0.16656	0.425	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.73610	-0.3928	10	0.72032	D	0.01	.	18.5761	0.91155	0.0:0.0:1.0:0.0	.	614	Q9NQU5	PAK6_HUMAN	Q	614	ENSP00000406873:R614Q;ENSP00000401153:R614Q;ENSP00000260404:R614Q;ENSP00000439597:R614Q	ENSP00000260404:R614Q	R	+	2	0	PAK6	38353732	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.466000	0.83321	0.561000	0.74099	CGG		0.577	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			34	104	0	0	0	1	0	34	104				
PCDHB6	56130	broad.mit.edu	37	5	140529944	140529944	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:140529944G>A	ENST00000231136.1	+	1	106	c.106G>A	c.(106-108)Gag>Aag	p.E36K	PCDHB6_ENST00000543635.1_Intron	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	36	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCGTATTGGAGGAGACAGA	0.498																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(106-108)Gag>Aag									152.0	153.0	153.0					5																	140529944		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140529944G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.106G>A	5.37:g.140529944G>A	ENSP00000231136:p.Glu36Lys					PCDHB6_ENST00000543635.1_Intron	p.E36K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	106	+			36			Cadherin 1.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.106G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950933	0.73787	.	.	ENSG00000113211	ENST00000231136	T	0.60299	0.2	4.9	4.9	0.64082	Cadherin, N-terminal (1);Cadherin (1);	.	.	.	.	D	0.85792	0.5779	H	0.99565	4.63	0.80722	D	1	P	0.43788	0.817	P	0.57502	0.822	D	0.91834	0.5478	9	0.87932	D	0	.	18.438	0.90653	0.0:0.0:1.0:0.0	.	36	Q9Y5E3	PCDB6_HUMAN	K	36	ENSP00000231136:E36K	ENSP00000231136:E36K	E	+	1	0	PCDHB6	140510128	1.000000	0.71417	0.945000	0.38365	0.340000	0.28889	9.752000	0.98900	2.417000	0.82017	0.561000	0.74099	GAG		0.498	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		16	122	0	0	0	1	0	16	122				
RAB19	401409	broad.mit.edu	37	7	140111745	140111745	+	Silent	SNP	C	C	T	rs375880877		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr7:140111745C>T	ENST00000356407.3	+	2	341	c.273C>T	c.(271-273)caC>caT	p.H91H	RAB19_ENST00000275874.5_Silent_p.H138H|RAB19_ENST00000537763.1_Silent_p.H91H			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	91					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GCAGTGCCCACGCAGCCATCA	0.562																																						ENST00000275874.5																			0				breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(412-414)caC>caT		RAB19, member RAS oncogene family		C		0,4406		0,0,2203	145.0	118.0	127.0		273	0.7	1.0	7		127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RAB19	NM_001008749.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		91/218	140111745	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	401409				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr7:140111745C>T		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"""RAB, member RAS oncogene"""	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.273C>T	7.37:g.140111745C>T						RAB19_ENST00000537763.1_Silent_p.H91H|RAB19_ENST00000356407.3_Silent_p.H91H	p.H138H			A4D1S5	RAB19_HUMAN			4	612	+	Melanoma(164;0.0142)		91					A4D1S6|B2RTS6|B5MDR2|Q9UL27	Silent	SNP	ENST00000356407.3	37	c.414C>T	CCDS34762.2																																																																																				0.562	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1			6	114	0	0	0	1	0	6	114				
CDC42BPA	8476	broad.mit.edu	37	1	227257552	227257552	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:227257552T>C	ENST00000366769.3	-	21	4121	c.2830A>G	c.(2830-2832)Ata>Gta	p.I944V	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.I944V|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.I863V|CDC42BPA_ENST00000535525.1_Intron|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.I944V|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.I944V|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.I944V	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TGGTGCTCTATACCTAGAAGA	0.358																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(2830-2832)Ata>Gta		CDC42 binding protein kinase alpha (DMPK-like)							84.0	77.0	79.0					1																	227257552		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227257552T>C	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2830A>G	1.37:g.227257552T>C	ENSP00000355731:p.Ile944Val					CDC42BPA_ENST00000366765.3_Missense_Mutation_p.I944V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.I944V|CDC42BPA_ENST00000535525.1_Intron|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.I863V|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.I944V|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.I944V	p.I944V	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			21	4121	-		all_cancers(173;0.156)|Prostate(94;0.0792)	944						Missense_Mutation	SNP	ENST00000366769.3	37	c.2830A>G	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.87|11.87	1.767262|1.767262	0.31320|0.31320	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000366765|ENST00000448940;ENST00000442054;ENST00000441725	T;T;T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97;0.97;0.97|.	5.61|5.61	0.137|0.137	0.14787|0.14787	.|.	0.253997|.	0.45867|.	N|.	0.000336|.	T|T	0.34483|0.34483	0.0899|0.0899	N|N	0.15975|0.15975	0.35|0.35	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B;B|.	0.04013|.	0.0;0.0;0.0;0.001;0.0;0.0|.	T|T	0.04930|0.04930	-1.0917|-1.0917	10|5	0.21540|.	T|.	0.41|.	.|.	8.5079|8.5079	0.33199|0.33199	0.0:0.5861:0.0:0.4139|0.0:0.5861:0.0:0.4139	.|.	944;208;863;944;944;146|.	Q5VT25-4;E9PEF7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799|.	.;.;.;.;.;.|.	V|C	944;863;944;944;944;208;944|146;237;117	ENSP00000355731:I944V;ENSP00000355729:I863V;ENSP00000335341:I944V;ENSP00000355728:I944V;ENSP00000355726:I944V;ENSP00000355727:I944V|.	ENSP00000335341:I944V|.	I|Y	-|-	1|2	0|0	CDC42BPA|CDC42BPA	225324175|225324175	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.035000|3.035000	0.49759|0.49759	0.132000|0.132000	0.18615|0.18615	0.379000|0.379000	0.24179|0.24179	ATA|TAT		0.358	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		3	20	0	0	0	1	0	3	20				
ZCCHC9	84240	broad.mit.edu	37	5	80600958	80600958	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:80600958A>G	ENST00000254037.2	+	1	3537	c.382A>G	c.(382-384)Atg>Gtg	p.M128V	ZCCHC9_ENST00000407610.3_Missense_Mutation_p.M128V|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.M128V|ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.M128V			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	128					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		GAAAAATGCAATGGTGAGAGC	0.373																																						ENST00000254037.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13						c.(382-384)Atg>Gtg		zinc finger, CCHC domain containing 9							51.0	49.0	50.0					5																	80600958		2203	4300	6503	SO:0001583	missense	84240						nucleic acid binding|zinc ion binding	g.chr5:80600958A>G	BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"""Zinc fingers, CCHC domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25424	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 41"""					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.382A>G	5.37:g.80600958A>G	ENSP00000254037:p.Met128Val					ZCCHC9_ENST00000438268.2_Missense_Mutation_p.M128V|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.M128V|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.M128V|ZCCHC9_ENST00000506458.1_Intron	p.M128V			Q8N567	ZCHC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)	1	3537	+		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)	128					B2RAE7|Q9H027	Missense_Mutation	SNP	ENST00000254037.2	37	c.382A>G	CCDS4054.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.615387	0.46631	.	.	ENSG00000131732	ENST00000254037;ENST00000407610;ENST00000380199;ENST00000438268	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.38	4.17	0.49024	Zinc finger, CCHC retroviral-type (1);	0.073238	0.85682	D	0.000000	T	0.30355	0.0762	L	0.40543	1.245	0.54753	D	0.999984	B	0.31581	0.329	B	0.27170	0.077	T	0.07404	-1.0774	10	0.15952	T	0.53	-19.0843	12.2303	0.54484	0.8581:0.1418:0.0:0.0	.	128	Q8N567	ZCHC9_HUMAN	V	128	ENSP00000254037:M128V;ENSP00000385047:M128V;ENSP00000369546:M128V;ENSP00000412637:M128V	ENSP00000254037:M128V	M	+	1	0	ZCCHC9	80636714	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.344000	0.72991	2.013000	0.59113	0.533000	0.62120	ATG		0.373	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280		6	52	0	0	0	1	0	6	52				
ZNF638	27332	broad.mit.edu	37	2	71649996	71649996	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:71649996G>A	ENST00000409544.1	+	22	3982	c.3352G>A	c.(3352-3354)Gat>Aat	p.D1118N	ZNF638_ENST00000264447.4_Missense_Mutation_p.D1118N|ZNF638_ENST00000409407.1_Missense_Mutation_p.D58N|ZNF638_ENST00000355812.3_Intron	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1118	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AACAGCAACTGATAGTCCCTC	0.383																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(3352-3354)Gat>Aat		zinc finger protein 638							77.0	77.0	77.0					2																	71649996		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71649996G>A	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3352G>A	2.37:g.71649996G>A	ENSP00000386433:p.Asp1118Asn					ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.D1118N|ZNF638_ENST00000409407.1_Missense_Mutation_p.D58N	p.D1118N	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			22	3982	+			1118			Glu-rich.		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.3352G>A	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233782	0.79688	.	.	ENSG00000075292	ENST00000394137;ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.38722	1.19;1.19;1.12	5.32	5.32	0.75619	.	0.000000	0.56097	D	0.000032	T	0.37046	0.0989	L	0.34521	1.04	0.80722	D	1	P;P;P	0.42692	0.682;0.787;0.682	B;B;B	0.42959	0.326;0.403;0.227	T	0.09818	-1.0657	10	0.38643	T	0.18	-5.2959	14.8465	0.70264	0.0:0.0:1.0:0.0	.	1118;1118;1118	A8K583;Q14966-3;Q14966	.;.;ZN638_HUMAN	N	697;1118;1118;58;58	ENSP00000264447:D1118N;ENSP00000386433:D1118N;ENSP00000386813:D58N	ENSP00000264447:D1118N	D	+	1	0	ZNF638	71503504	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.772000	0.68889	2.646000	0.89796	0.655000	0.94253	GAT		0.383	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		21	66	0	0	0	1	0	21	66				
ALG12	79087	broad.mit.edu	37	22	50297857	50297857	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr22:50297857G>T	ENST00000330817.6	-	9	1481	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	403					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GAGAAACCGAGACACACCTGT	0.652																																						ENST00000330817.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(1207-1209)tCt>tAt		ALG12, alpha-1,6-mannosyltransferase							47.0	49.0	49.0					22																	50297857		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50297857G>T	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.1208C>A	22.37:g.50297857G>T	ENSP00000333813:p.Ser403Tyr						p.S403Y	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	9	1481	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	403					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.1208C>A	CCDS14081.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.448459|4.448459	0.84101|0.84101	.|.	.|.	ENSG00000182858|ENSG00000182858	ENST00000332276|ENST00000330817	.|T	.|0.60424	.|0.19	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82490|0.82490	0.5048|0.5048	M|M	0.93062|0.93062	3.375|3.375	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.86892|0.86892	0.2049|0.2049	6|10	0.87932|0.87932	D|D	0|0	-13.5378|-13.5378	18.968|18.968	0.92704|0.92704	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|403	.|Q9BV10	.|ALG12_HUMAN	I|Y	49|403	.|ENSP00000333813:S403Y	ENSP00000329560:L49I|ENSP00000333813:S403Y	L|S	-|-	1|2	0|0	ALG12|ALG12	48683861|48683861	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.541000|0.541000	0.35023|0.35023	7.798000|7.798000	0.85924|0.85924	2.488000|2.488000	0.83962|0.83962	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.652	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		10	40	1	0	0.000673444	1	0.000681657	10	40				
BAP1	8314	broad.mit.edu	37	3	52437163	52437163	+	Silent	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:52437163G>A	ENST00000460680.1	-	14	2352	c.1881C>T	c.(1879-1881)taC>taT	p.Y627Y	BAP1_ENST00000296288.5_Silent_p.Y609Y	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y627*(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCTTGGGTGAGTATTTCTCCC	0.582			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1				Rec	yes		3	3p21.31-p21.2	8314	"""N, Mis, F, S, O"""	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E		"""mesothelioma, uveal melanoma"""	"""uveal melanoma, breast, NSCLC, RCC"""		1	Substitution - Nonsense(1)	p.Y627*(1)	kidney(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1879-1881)taC>taT		BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)							101.0	101.0	101.0					3																	52437163		2203	4300	6503	SO:0001819	synonymous_variant	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52437163G>A	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1881C>T	3.37:g.52437163G>A						BAP1_ENST00000296288.5_Silent_p.Y609Y	p.Y627Y	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	14	2352	-			627			Interaction with BRCA1.		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Silent	SNP	ENST00000460680.1	37	c.1881C>T	CCDS2853.1																																																																																				0.582	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			5	37	0	0	0	1	0	5	37				
F13A1	2162	broad.mit.edu	37	6	6167791	6167791	+	Missense_Mutation	SNP	G	G	A	rs148207995	byFrequency	TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:6167791G>A	ENST00000264870.3	-	13	2073	c.1808C>T	c.(1807-1809)gCg>gTg	p.A603V	MIR5683_ENST00000584820.1_RNA	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	603					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.A603G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GTGCAGGGACGCTTGTTCCAG	0.522																																						ENST00000264870.3																			1	Substitution - Missense(1)	p.A603G(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(1807-1809)gCg>gTg		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)	G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	176.0	124.0	142.0		1808	2.7	0.1	6	dbSNP_134	142	1,8599	1.2+/-3.3	0,1,4299	yes	missense	F13A1	NM_000129.3	64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	603/733	6167791	2,13004	2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6167791G>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1808C>T	6.37:g.6167791G>A	ENSP00000264870:p.Ala603Val						p.A603V	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			13	2073	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	603					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.1808C>T	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490079	0.44249	2.27E-4	1.16E-4	ENSG00000124491	ENST00000264870;ENST00000441301	T	0.76448	-1.02	5.54	2.69	0.31865	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.369785	0.27577	N	0.018745	T	0.67097	0.2857	M	0.78801	2.425	0.37749	D	0.925913	P;D	0.64830	0.926;0.994	B;B	0.39904	0.242;0.313	T	0.70575	-0.4834	10	0.48119	T	0.1	.	15.8847	0.79238	0.0:0.3921:0.6079:0.0	.	540;603	F5H080;P00488	.;F13A_HUMAN	V	603;540	ENSP00000264870:A603V	ENSP00000264870:A603V	A	-	2	0	F13A1	6112790	1.000000	0.71417	0.124000	0.21820	0.499000	0.33736	2.072000	0.41510	0.258000	0.21686	0.467000	0.42956	GCG		0.522	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		10	33	0	0	0	1	0	10	33				
DDB1	1642	broad.mit.edu	37	11	61067677	61067677	+	Silent	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:61067677G>A	ENST00000301764.7	-	27	3751	c.3354C>T	c.(3352-3354)agC>agT	p.S1118S	DDB1_ENST00000538470.1_Silent_p.S165S|DDB1_ENST00000451943.2_Silent_p.S105S|DDB1_ENST00000450997.2_Silent_p.S429S	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1118	Interaction with CDT1 and CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GCTTCATACCGCTGCCATCGT	0.602								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(3352-3354)agC>agT	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							108.0	76.0	87.0					11																	61067677		2203	4299	6502	SO:0001819	synonymous_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61067677G>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3354C>T	11.37:g.61067677G>A						DDB1_ENST00000451943.2_Silent_p.S105S|DDB1_ENST00000450997.2_Silent_p.S429S|DDB1_ENST00000538470.1_Silent_p.S165S	p.S1118S	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			27	3751	-			1118			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	c.3354C>T	CCDS31576.1																																																																																				0.602	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		11	25	0	0	0	1	0	11	25				
PAPOLB	56903	broad.mit.edu	37	7	4900349	4900349	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr7:4900349C>T	ENST00000404991.1	-	1	1276	c.1090G>A	c.(1090-1092)Gct>Act	p.A364T	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	364					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAGCTTGGAGCTTCAAAGAGT	0.403																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(1090-1092)Gct>Act		poly(A) polymerase beta (testis specific)							125.0	127.0	126.0					7																	4900349		2201	4300	6501	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4900349C>T	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1090G>A	7.37:g.4900349C>T	ENSP00000384700:p.Ala364Thr					RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	p.A364T	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	1276	-		Ovarian(82;0.0175)	364					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.1090G>A		.	.	.	.	.	.	.	.	.	.	C	13.33	2.205260	0.39003	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	T	0.56171	0.1967	L	0.42686	1.345	0.53688	D	0.999972	B	0.19200	0.034	B	0.20767	0.031	T	0.53563	-0.8421	8	0.45353	T	0.12	.	15.7068	0.77588	0.0:1.0:0.0:0.0	.	365	A4D1Z6	.	T	364	.	ENSP00000384700:A364T	A	-	1	0	PAPOLB	4866875	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.666000	0.61554	2.838000	0.97847	0.591000	0.81541	GCT		0.403	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		23	85	0	0	0	1	0	23	85				
VPRBP	9730	broad.mit.edu	37	3	51477888	51477888	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:51477888G>A	ENST00000335891.5	-	5	416	c.407C>T	c.(406-408)gCc>gTc	p.A136V				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	136					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GGCCTCTCGGGCCCATTTGAA	0.383																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(406-408)gCc>gTc		Vpr (HIV-1) binding protein							71.0	68.0	69.0					3																	51477888		1830	4076	5906	SO:0001583	missense	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51477888G>A	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.407C>T	3.37:g.51477888G>A	ENSP00000338857:p.Ala136Val						p.A136V			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	5	416	-			136					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37	c.407C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.546260	0.96488	.	.	ENSG00000145041	ENST00000335891;ENST00000504652	T;T	0.65364	-0.15;0.8	6.03	6.03	0.97812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79257	0.4415	M	0.67700	2.07	0.42665	D	0.99349	D	0.67145	0.996	D	0.73380	0.98	T	0.78272	-0.2268	10	0.56958	D	0.05	-14.0683	20.5752	0.99366	0.0:0.0:1.0:0.0	.	136	Q9Y4B6	VPRBP_HUMAN	V	136	ENSP00000338857:A136V;ENSP00000421724:A136V	ENSP00000338857:A136V	A	-	2	0	VPRBP	51452928	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.476000	0.97823	2.868000	0.98415	0.557000	0.71058	GCC		0.383	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		3	21	0	0	0	1	0	3	21				
AGXT2	64902	broad.mit.edu	37	5	34998834	34998834	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:34998834C>T	ENST00000231420.6	-	14	1735	c.1535G>A	c.(1534-1536)aGa>aAa	p.R512K		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	512					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	TTACTTAGCTCTTCTTTCCAT	0.388																																						ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(1534-1536)aGa>aAa		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						238.0	213.0	221.0					5																	34998834		2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:34998834C>T	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.1535G>A	5.37:g.34998834C>T	ENSP00000231420:p.Arg512Lys						p.R512K	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	14	1735	-	all_lung(31;4.52e-05)		512					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.1535G>A	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	8.077	0.771529	0.16051	.	.	ENSG00000113492	ENST00000231420	T	0.81163	-1.46	5.69	2.98	0.34508	.	0.351564	0.36703	N	0.002450	T	0.65091	0.2658	L	0.29908	0.895	0.31037	N	0.716728	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.55566	-0.8121	10	0.25751	T	0.34	-4.0679	5.3808	0.16189	0.0:0.6142:0.1456:0.2401	.	437;512	E9PDL7;Q9BYV1	.;AGT2_HUMAN	K	512	ENSP00000231420:R512K	ENSP00000231420:R512K	R	-	2	0	AGXT2	35034591	0.993000	0.37304	0.995000	0.50966	0.348000	0.29142	0.024000	0.13555	0.354000	0.24105	0.650000	0.86243	AGA		0.388	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		6	37	0	0	0	1	0	6	37				
FARP1	10160	broad.mit.edu	37	13	99099025	99099025	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr13:99099025T>C	ENST00000319562.6	+	26	3275	c.3010T>C	c.(3010-3012)Tcc>Ccc	p.S1004P	FARP1_ENST00000595437.1_Missense_Mutation_p.S1035P|FARP1_ENST00000376586.2_Missense_Mutation_p.S1035P	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	1004	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GCACTTCAAGTCCCACGTCTA	0.577																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(3103-3105)Tcc>Ccc		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							202.0	149.0	167.0					13																	99099025		2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99099025T>C	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.3010T>C	13.37:g.99099025T>C	ENSP00000322926:p.Ser1004Pro					FARP1_ENST00000595437.1_Missense_Mutation_p.S1035P|FARP1_ENST00000319562.6_Missense_Mutation_p.S1004P	p.S1035P			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		27	3439	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1004					Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.3103T>C	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	T	33	5.290837	0.95546	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.13307	2.6;2.6	5.45	5.45	0.79879	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.109718	0.64402	D	0.000004	T	0.33904	0.0879	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.71414	0.958;0.973	T	0.04467	-1.0949	10	0.87932	D	0	.	15.5191	0.75851	0.0:0.0:0.0:1.0	.	1004;1035	Q9Y4F1;C9JME2	FARP1_HUMAN;.	P	1035;1004	ENSP00000365771:S1035P;ENSP00000322926:S1004P	ENSP00000322926:S1004P	S	+	1	0	FARP1	97897026	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.064000	0.61679	0.454000	0.30748	TCC		0.577	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		10	111	0	0	0	1	0	10	111				
TINAGL1	64129	broad.mit.edu	37	1	32051466	32051466	+	Silent	SNP	C	C	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:32051466C>G	ENST00000271064.7	+	10	1282	c.1206C>G	c.(1204-1206)gtC>gtG	p.V402V	TINAGL1_ENST00000457433.2_Silent_p.V371V|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	402					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CCCACTCAGTCAAGATCACAG	0.587																																						ENST00000271064.7																			0				breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(1204-1206)gtC>gtG		tubulointerstitial nephritis antigen-like 1							24.0	21.0	22.0					1																	32051466		2203	4299	6502	SO:0001819	synonymous_variant	64129				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity	g.chr1:32051466C>G	AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.1206C>G	1.37:g.32051466C>G						TINAGL1_ENST00000457433.2_Silent_p.V371V|TINAGL1_ENST00000481165.1_3'UTR	p.V402V	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)	10	1282	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	402					A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Silent	SNP	ENST00000271064.7	37	c.1206C>G	CCDS343.1																																																																																				0.587	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164		4	10	0	0	0	1	0	4	10				
NINL	22981	broad.mit.edu	37	20	25456763	25456763	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr20:25456763T>C	ENST00000278886.6	-	17	3237	c.3164A>G	c.(3163-3165)aAg>aGg	p.K1055R	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1055					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CATGTCATCCTTCTCTCTCTC	0.542																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(3163-3165)aAg>aGg		ninein-like							123.0	106.0	112.0					20																	25456763		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25456763T>C		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3164A>G	20.37:g.25456763T>C	ENSP00000278886:p.Lys1055Arg					NINL_ENST00000422516.1_Intron	p.K1055R	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			17	3237	-			1055					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.3164A>G	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	T	1.410	-0.575818	0.03882	.	.	ENSG00000101004	ENST00000278886	T	0.05717	3.4	4.85	-2.47	0.06442	.	0.529823	0.19205	N	0.120082	T	0.02571	0.0078	N	0.24115	0.695	0.09310	N	1	B	0.26081	0.141	B	0.20767	0.031	T	0.41840	-0.9486	10	0.15066	T	0.55	-3.854	0.3617	0.00365	0.2918:0.2692:0.1409:0.2981	.	1055	Q9Y2I6	NINL_HUMAN	R	1055	ENSP00000278886:K1055R	ENSP00000278886:K1055R	K	-	2	0	NINL	25404763	0.025000	0.19082	0.035000	0.18076	0.018000	0.09664	0.003000	0.13083	-0.404000	0.07610	-0.379000	0.06801	AAG		0.542	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		53	65	0	0	0	1	0	53	65				
ZNF615	284370	broad.mit.edu	37	19	52497257	52497257	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr19:52497257G>A	ENST00000602063.1	-	6	1421	c.1072C>T	c.(1072-1074)Cgt>Tgt	p.R358C	ZNF615_ENST00000376716.5_Missense_Mutation_p.R358C|ZNF615_ENST00000594083.1_Missense_Mutation_p.R369C|ZNF615_ENST00000598071.1_Missense_Mutation_p.R369C|ZNF615_ENST00000391795.3_Missense_Mutation_p.R363C			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCAGTAAGACGCCTCTTCTCA	0.388																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(1072-1074)Cgt>Tgt		zinc finger protein 615							97.0	101.0	100.0					19																	52497257		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497257G>A	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1072C>T	19.37:g.52497257G>A	ENSP00000473089:p.Arg358Cys					ZNF615_ENST00000598071.1_Missense_Mutation_p.R369C|ZNF615_ENST00000391795.3_Missense_Mutation_p.R363C|ZNF615_ENST00000376716.5_Missense_Mutation_p.R358C|ZNF615_ENST00000594083.1_Missense_Mutation_p.R369C	p.R358C			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1421	-		all_neural(266;0.117)	358					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.1072C>T	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955769	0.34471	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.08102	3.13;3.13	3.08	0.935	0.19483	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09247	0.0228	L	0.28054	0.825	0.09310	N	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.55923	0.787;0.682;0.682;0.787	T	0.26849	-1.0091	9	0.39692	T	0.17	.	2.2561	0.04055	0.3796:0.0:0.3847:0.2357	.	363;365;369;358	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	C	358;368;363;368	ENSP00000365906:R358C;ENSP00000375672:R363C	ENSP00000347019:R368C	R	-	1	0	ZNF615	57189069	0.000000	0.05858	0.012000	0.15200	0.967000	0.64934	-6.938000	0.00049	0.609000	0.30018	0.650000	0.86243	CGT		0.388	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		20	58	0	0	0	1	0	20	58				
UGT2B10	7365	broad.mit.edu	37	4	69681978	69681978	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr4:69681978A>G	ENST00000265403.7	+	1	268	c.241A>G	c.(241-243)Act>Gct	p.T81A	UGT2B10_ENST00000458688.2_Missense_Mutation_p.T81A	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	81					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TACATCTTTAACTAAAACTGA	0.343																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(241-243)Act>Gct		UDP glucuronosyltransferase 2 family, polypeptide B10							73.0	81.0	78.0					4																	69681978		2201	4296	6497	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69681978A>G	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.241A>G	4.37:g.69681978A>G	ENSP00000265403:p.Thr81Ala					UGT2B10_ENST00000458688.2_Missense_Mutation_p.T81A	p.T81A	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			1	268	+			81					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.241A>G		.	.	.	.	.	.	.	.	.	.	a	4.486	0.090042	0.08632	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.61392	0.11;3.31	2.63	-0.207	0.13189	.	0.292074	0.27227	U	0.020335	T	0.48642	0.1511	L	0.54965	1.715	0.09310	N	1	B;B	0.16396	0.003;0.017	B;B	0.32289	0.02;0.143	T	0.47156	-0.9139	10	0.56958	D	0.05	.	4.3389	0.11099	0.6064:0.1999:0.0:0.1937	.	81;81	B4DPP1;P36537	.;UDB10_HUMAN	A	81	ENSP00000265403:T81A;ENSP00000413420:T81A	ENSP00000265403:T81A	T	+	1	0	UGT2B10	69716567	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.225000	0.09151	-0.319000	0.08652	-1.429000	0.01096	ACT		0.343	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		33	69	0	0	0	1	0	33	69				
TBC1D9	23158	broad.mit.edu	37	4	141543531	141543531	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr4:141543531G>A	ENST00000442267.2	-	21	3693	c.3619C>T	c.(3619-3621)Cgg>Tgg	p.R1207W		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1207							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GCCCAGTCCCGGTCCAGGCTG	0.647																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(3619-3621)Cgg>Tgg		TBC1 domain family, member 9 (with GRAM domain)							37.0	42.0	41.0					4																	141543531		2085	4188	6273	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543531G>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3619C>T	4.37:g.141543531G>A	ENSP00000411197:p.Arg1207Trp						p.R1207W	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			21	3693	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1207					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3619C>T	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466754	0.63625	.	.	ENSG00000109436	ENST00000442267	T	0.30981	1.51	5.01	3.03	0.35002	.	0.109676	0.64402	D	0.000010	T	0.32912	0.0845	L	0.44542	1.39	0.45648	D	0.998576	D	0.65815	0.995	P	0.48677	0.586	T	0.17198	-1.0377	10	0.66056	D	0.02	.	12.5589	0.56269	0.0:0.0:0.5352:0.4648	.	1207	Q6ZT07	TBCD9_HUMAN	W	1207	ENSP00000411197:R1207W	ENSP00000411197:R1207W	R	-	1	2	TBC1D9	141762981	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.471000	0.60182	1.077000	0.40990	0.655000	0.94253	CGG		0.647	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		5	25	0	0	0	1	0	5	25				
ERV3-1	2086	broad.mit.edu	37	7	64452930	64452930	+	Missense_Mutation	SNP	C	C	T	rs199931905		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr7:64452930C>T	ENST00000394323.2	-	2	975	c.475G>A	c.(475-477)Gat>Aat	p.D159N	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	159						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						actggggaatcggtggaacaa	0.448													.|||	1	0.000199681	0.0008	0.0	5008	,	,		20050	0.0		0.0	False		,,,				2504	0.0					ENST00000394323.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						c.(475-477)Gat>Aat									91.0	85.0	87.0					7																	64452930		1930	4131	6061	SO:0001583	missense	2086					virion		g.chr7:64452930C>T	AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.475G>A	7.37:g.64452930C>T	ENSP00000391594:p.Asp159Asn						p.D159N	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN			2	975	-			159						Missense_Mutation	SNP	ENST00000394323.2	37	c.475G>A	CCDS47595.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	2.133	-0.398721	0.04865	.	.	ENSG00000213462	ENST00000394323	T	0.13420	2.59	0.109	0.109	0.14578	.	.	.	.	.	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.40421	-0.9564	8	0.29301	T	0.29	.	.	.	.	.	159	Q14264	ENR1_HUMAN	N	159	ENSP00000391594:D159N	ENSP00000391594:D159N	D	-	1	0	ERV3-1	64090365	0.084000	0.21492	0.134000	0.22075	0.137000	0.21094	-1.024000	0.03603	0.181000	0.19994	0.184000	0.17185	GAT		0.448	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381468.1	NM_001007253		7	77	0	0	0	1	0	7	77				
SGK1	6446	broad.mit.edu	37	6	134496700	134496700	+	5'Flank	SNP	A	A	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:134496700A>G	ENST00000237305.7	-	0	0				SGK1_ENST00000475719.2_5'Flank|SGK1_ENST00000413996.3_Missense_Mutation_p.F34L|SGK1_ENST00000367857.5_5'Flank|SGK1_ENST00000528577.1_Intron|SGK1_ENST00000367858.5_Intron|SGK1_ENST00000489458.2_5'Flank	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1						apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CTCAGCAGGAAGGACTCGCTC	0.711																																						ENST00000413996.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(100-102)Ttc>Ctc		serum/glucocorticoid regulated kinase 1							7.0	9.0	9.0					6																	134496700		1514	3469	4983	SO:0001631	upstream_gene_variant	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134496700A>G	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613		6.37:g.134496700A>G	Exception_encountered					SGK1_ENST00000367858.5_Intron|SGK1_ENST00000528577.1_Intron	p.F34L	NM_001143678.1	NP_001137150.1	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	1	429	-	Colorectal(23;0.221)		0			Necessary for localization to the cytoplasm.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	c.100T>C	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.687310	0.48097	.	.	ENSG00000118515	ENST00000413996	T	0.70986	-0.53	4.9	3.72	0.42706	.	.	.	.	.	T	0.24392	0.0591	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.26258	-1.0108	8	0.02654	T	1	.	10.0737	0.42347	0.5337:0.4663:0.0:0.0	.	34	O00141-3	.	L	34	ENSP00000396242:F34L	ENSP00000396242:F34L	F	-	1	0	SGK1	134538393	0.996000	0.38824	1.000000	0.80357	0.932000	0.56968	0.888000	0.28268	0.661000	0.30985	0.260000	0.18958	TTC		0.711	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			3	3	0	0	0	1	0	3	3				
PTPRC	5788	broad.mit.edu	37	1	198668713	198668713	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:198668713C>T	ENST00000367376.2	+	5	484	c.313C>T	c.(313-315)Cct>Tct	p.P105S	PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.P105S|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.P107S|PTPRC_ENST00000391970.3_3'UTR	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	105					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P105T(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGTACAGACGCCTCACCTTCC	0.512											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367376.2																			1	Substitution - Missense(1)	p.P105T(1)	lung(1)	breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(313-315)Cct>Tct		protein tyrosine phosphatase, receptor type, C							105.0	109.0	108.0					1																	198668713		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198668713C>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.313C>T	1.37:g.198668713C>T	ENSP00000356346:p.Pro105Ser		OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2100	PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.P107S|PTPRC_ENST00000352140.3_Missense_Mutation_p.P105S	p.P105S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			5	484	+			105					A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.313C>T		.	.	.	.	.	.	.	.	.	.	C	10.15	1.270079	0.23221	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000271610;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000418674	T	0.02709	4.19	5.33	1.1	0.20463	.	0.284732	0.25442	N	0.030646	T	0.02304	0.0071	L	0.38531	1.155	0.09310	N	0.999998	P;P;P;P;B;B	0.41978	0.492;0.62;0.767;0.767;0.024;0.11	B;B;B;B;B;B	0.38562	0.276;0.142;0.236;0.236;0.005;0.03	T	0.45571	-0.9252	10	0.48119	T	0.1	.	4.0388	0.09741	0.2751:0.5061:0.1346:0.0842	.	41;41;41;146;105;105	F5GXZ3;B4DSZ5;Q5T9M4;Q6Q1P2;E9PC28;P08575	.;.;.;.;.;PTPRC_HUMAN	S	107;41;105;105;146;39;105;39;105	ENSP00000193532:P105S	ENSP00000271610:P146S	P	+	1	0	PTPRC	196935336	0.004000	0.15560	0.125000	0.21846	0.550000	0.35303	0.117000	0.15583	0.631000	0.30412	0.555000	0.69702	CCT		0.512	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				53	116	0	0	0	1	0	53	116				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		30	46	0	0	0	1	0	30	46				
FAM27L	284123	broad.mit.edu	37	17	21825535	21825535	+	lincRNA	SNP	C	C	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr17:21825535C>A	ENST00000426869.3	+	0	239					NR_028336.1		Q8N5T8	FA27L_HUMAN	family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		ggggaagcagcgcggcatccc	0.627																																						ENST00000426869.3																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14								family with sequence similarity 27-like							60.0	70.0	67.0					17																	21825535		1995	4168	6163			284123							g.chr17:21825535C>A	BC031617		17p11.2	2014-01-28				ENSG00000178130			32410	protein-coding gene	gene with protein product							Standard	NR_028336		Approved	MGC35151	uc002gyz.4	Q8N5T8			17.37:g.21825535C>A								NR_028336.1					UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)	0	239	+									RNA	SNP	ENST00000426869.3	37			.	.	.	.	.	.	.	.	.	.	C	0.878	-0.729872	0.03135	.	.	ENSG00000178130	ENST00000426869	.	.	.	0.158	-0.317	0.12736	.	.	.	.	.	T	0.11324	0.0276	.	.	.	0.31099	N	0.710612	.	.	.	.	.	.	T	0.33163	-0.9879	3	0.02654	T	1	.	.	.	.	.	.	.	.	E	12	.	ENSP00000388448:A12E	A	+	2	0	FAM27L	21749662	0.008000	0.16893	0.002000	0.10522	0.002000	0.02628	-1.280000	0.02804	-1.055000	0.03209	-1.048000	0.02349	GCG		0.627	FAM27L-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389059.2	NM_203392		25	68	1	0	2.61193e-14	1	2.76166e-14	25	68				
KIAA2022	340533	broad.mit.edu	37	X	73963630	73963630	+	Silent	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chrX:73963630G>A	ENST00000055682.6	-	3	1373	c.762C>T	c.(760-762)tcC>tcT	p.S254S		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	254					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AATCCTGATTGGAATTTGCAA	0.403																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(760-762)tcC>tcT		KIAA2022							136.0	125.0	129.0					X																	73963630		2203	4300	6503	SO:0001819	synonymous_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963630G>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.762C>T	X.37:g.73963630G>A						KIAA2022_ENST00000055682.5_Silent_p.S254S	p.S254S			Q5QGS0	K2022_HUMAN			3	1413	-			254					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.762C>T	CCDS35337.1																																																																																				0.403	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		4	78	0	0	0	1	0	4	78				
SULT1A1	6817	broad.mit.edu	37	16	28620068	28620068	+	Missense_Mutation	SNP	G	G	A	rs148045936	byFrequency	TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr16:28620068G>A	ENST00000395607.1	-	2	382	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	SULT1A1_ENST00000395609.1_Missense_Mutation_p.R37W|SULT1A1_ENST00000314752.7_Missense_Mutation_p.R37W|SULT1A1_ENST00000569554.1_Missense_Mutation_p.R37W|SULT1A1_ENST00000350842.4_Intron	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	37			R -> Q. {ECO:0000269|PubMed:9345314}.		3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	TCATCAGGCCGGGCCTGGAAG	0.652													.|||	3	0.000599042	0.0023	0.0	5008	,	,		23643	0.0		0.0	False		,,,				2504	0.0					ENST00000395609.1																			0				endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						c.(109-111)Cgg>Tgg		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1							67.0	61.0	63.0					16																	28620068		2197	4297	6494	SO:0001583	missense	6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28620068G>A	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.109C>T	16.37:g.28620068G>A	ENSP00000378971:p.Arg37Trp					SULT1A1_ENST00000395607.1_Missense_Mutation_p.R37W|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Missense_Mutation_p.R37W|SULT1A1_ENST00000314752.7_Missense_Mutation_p.R37W	p.R37W			P50225	ST1A1_HUMAN			4	867	-			37		R -> Q.			Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	ENST00000395607.1	37	c.109C>T	CCDS32420.1	.	.	.	.	.	.	.	.	.	.	.	9.708	1.156418	0.21454	.	.	ENSG00000196502	ENST00000314752;ENST00000395609;ENST00000395607	T;T;T	0.02421	4.3;4.3;4.3	2.5	-5.0	0.03001	.	1.482540	0.04423	N	0.367932	T	0.01835	0.0058	N	0.12182	0.205	0.09310	N	0.99999	B	0.26002	0.139	B	0.25506	0.061	T	0.43360	-0.9396	10	0.54805	T	0.06	.	3.8215	0.08837	0.241:0.0:0.3606:0.3985	.	37	P50225	ST1A1_HUMAN	W	37	ENSP00000321988:R37W;ENSP00000378972:R37W;ENSP00000378971:R37W	ENSP00000321988:R37W	R	-	1	2	SULT1A1	28527569	0.000000	0.05858	0.000000	0.03702	0.372000	0.29890	-1.277000	0.02812	-1.936000	0.01048	0.306000	0.20318	CGG		0.652	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254694.2	NM_001055		19	77	0	0	0	1	0	19	77				
PPP6R2	9701	broad.mit.edu	37	22	50845169	50845169	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr22:50845169C>T	ENST00000216061.5	+	5	649	c.279C>T	c.(277-279)agC>agT	p.S93S	PPP6R2_ENST00000395741.3_Silent_p.S93S|PPP6R2_ENST00000395744.3_Silent_p.S93S|PPP6R2_ENST00000359139.3_Silent_p.S93S			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	93						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CGCAGATCAGCGACCGCCTCG	0.537																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(277-279)agC>agT		protein phosphatase 6, regulatory subunit 2							173.0	167.0	169.0					22																	50845169		2203	4300	6503	SO:0001819	synonymous_variant	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50845169C>T	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.279C>T	22.37:g.50845169C>T						PPP6R2_ENST00000395741.3_Silent_p.S93S|PPP6R2_ENST00000216061.5_Silent_p.S93S|PPP6R2_ENST00000395744.3_Silent_p.S93S	p.S93S	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			4	673	+			93					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	37	c.279C>T																																																																																					0.537	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		123	101	0	0	0	1	0	123	101				
NBEAL1	65065	broad.mit.edu	37	2	204016213	204016213	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:204016213C>G	ENST00000449802.1	+	34	5734	c.5401C>G	c.(5401-5403)Cta>Gta	p.L1801V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1801										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCACTGGAAGCTAGCTAATGT	0.323																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(5401-5403)Cta>Gta		neurobeachin-like 1							80.0	72.0	75.0					2																	204016213		1811	4073	5884	SO:0001583	missense	65065						binding	g.chr2:204016213C>G	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5401C>G	2.37:g.204016213C>G	ENSP00000399903:p.Leu1801Val						p.L1801V	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			34	5734	+			1801					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.5401C>G	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867707	0.51588	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.63096	-0.02	5.04	5.04	0.67666	.	0.159571	0.41712	D	0.000830	T	0.65883	0.2734	M	0.77103	2.36	0.48185	D	0.999602	B;B	0.23540	0.087;0.087	B;B	0.17433	0.018;0.018	T	0.67643	-0.5618	10	0.66056	D	0.02	.	18.0132	0.89230	0.0:1.0:0.0:0.0	.	1801;1790	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	V	1801	ENSP00000399903:L1801V	ENSP00000344985:L1801V	L	+	1	2	NBEAL1	203724458	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.056000	0.41355	2.342000	0.79632	0.460000	0.39030	CTA		0.323	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			8	20	0	0	0	1	0	8	20				
DCAF8L2	347442	broad.mit.edu	37	X	27766662	27766662	+	Silent	SNP	T	T	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chrX:27766662T>C	ENST00000451261.2	+	5	2049	c.1650T>C	c.(1648-1650)ctT>ctC	p.L550L		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	550										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CCACTGAGCTTACTGGGTTAA	0.498																																						ENST00000451261.2																			0				central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(1648-1650)ctT>ctC		DDB1 and CUL4 associated factor 8-like 2							100.0	80.0	86.0					X																	27766662		692	1591	2283	SO:0001819	synonymous_variant	347442							g.chrX:27766662T>C		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1650T>C	X.37:g.27766662T>C							p.L550L	NM_001136533.1	NP_001130005.1					5	2049	+								B2RXH9|J3KT06	Silent	SNP	ENST00000451261.2	37	c.1650T>C	CCDS59162.1																																																																																				0.498	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		4	5	0	0	0	1	0	4	5				
EIF4G2	1982	broad.mit.edu	37	11	10825846	10825846	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:10825846C>G	ENST00000526148.1	-	6	981	c.471G>C	c.(469-471)caG>caC	p.Q157H	EIF4G2_ENST00000396525.2_Missense_Mutation_p.Q157H|EIF4G2_ENST00000525681.1_Missense_Mutation_p.Q157H|EIF4G2_ENST00000339995.5_Missense_Mutation_p.Q157H|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525995.1_5'Flank|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGCTTTGCTTCTGTCCTGGTT	0.413																																						ENST00000526148.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(469-471)caG>caC		eukaryotic translation initiation factor 4 gamma, 2							149.0	137.0	141.0					11																	10825846		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10825846C>G	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.471G>C	11.37:g.10825846C>G	ENSP00000433664:p.Gln157His					EIF4G2_ENST00000339995.5_Missense_Mutation_p.Q157H|EIF4G2_ENST00000396525.2_Missense_Mutation_p.Q157H|EIF4G2_ENST00000525681.1_Missense_Mutation_p.Q157H	p.Q157H	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	6	981	-			157			MIF4G.			Missense_Mutation	SNP	ENST00000526148.1	37	c.471G>C	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737739	0.69304	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416;ENST00000532082;ENST00000524932;ENST00000527419	T;T;T;T;T;T;T;T	0.50001	2.18;2.18;2.18;2.18;1.88;1.9;1.89;0.76	5.97	5.97	0.96955	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	N	0.24115	0.695	0.49299	D	0.999772	D;D	0.67145	0.996;0.996	D;D	0.66196	0.915;0.942	T	0.59016	-0.7533	9	0.62326	D	0.03	-5.3136	20.4324	0.99085	0.0:1.0:0.0:0.0	.	157;230	P78344;B4DZF2	IF4G2_HUMAN;.	H	157;157;157;157;230;157;157;157;88	ENSP00000433664:Q157H;ENSP00000433371:Q157H;ENSP00000340281:Q157H;ENSP00000379778:Q157H;ENSP00000431583:Q157H;ENSP00000433121:Q157H;ENSP00000435523:Q157H;ENSP00000434940:Q88H	ENSP00000340281:Q157H	Q	-	3	2	EIF4G2	10782422	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.892000	0.48625	2.833000	0.97629	0.585000	0.79938	CAG		0.413	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		4	146	0	0	0	1	0	4	146				
AHNAK	79026	broad.mit.edu	37	11	62295516	62295516	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:62295516G>T	ENST00000378024.4	-	5	6647	c.6373C>A	c.(6373-6375)Cac>Aac	p.H2125N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2125					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTCAAGTGTAAGTCCACA	0.522																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(6373-6375)Cac>Aac		AHNAK nucleoprotein							193.0	207.0	202.0					11																	62295516		2202	4297	6499	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295516G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6373C>A	11.37:g.62295516G>T	ENSP00000367263:p.His2125Asn					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.H2125N	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6647	-		Melanoma(852;0.155)	2125					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6373C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-2.897177	0.00059	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.00705	5.81	3.51	-7.02	0.01589	.	.	.	.	.	T	0.00356	0.0011	N	0.01122	-1.005	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.48581	-0.9023	9	0.07813	T	0.8	.	15.9759	0.80063	0.0:0.0:0.7207:0.2793	.	2125	Q09666	AHNK_HUMAN	N	214;2125	ENSP00000367263:H2125N	ENSP00000244934:H214N	H	-	1	0	AHNAK	62052092	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	-2.290000	0.01148	-1.362000	0.02166	-0.887000	0.02937	CAC		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		89	262	1	0	2.41118e-28	1	2.61606e-28	89	262				
LRRC31	79782	broad.mit.edu	37	3	169557876	169557876	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:169557876A>T	ENST00000316428.5	-	9	1610	c.1553T>A	c.(1552-1554)aTa>aAa	p.I518K	LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.I462K	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	518										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TTTCATTCCTATCTCAGTGAT	0.408																																						ENST00000316428.5																			0				cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1552-1554)aTa>aAa		leucine rich repeat containing 31							133.0	120.0	124.0					3																	169557876		1898	4121	6019	SO:0001583	missense	79782							g.chr3:169557876A>T	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1553T>A	3.37:g.169557876A>T	ENSP00000325978:p.Ile518Lys					LRRC31_ENST00000264676.5_Missense_Mutation_p.I462K|LRRC31_ENST00000523069.1_3'UTR	p.I518K	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		9	1610	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		518					B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	c.1553T>A	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.879069	0.33162	.	.	ENSG00000114248	ENST00000316428;ENST00000264676	T;T	0.09255	3.03;3.0	4.87	3.7	0.42460	.	0.131674	0.52532	D	0.000077	T	0.12561	0.0305	L	0.27053	0.805	0.80722	D	1	D;P	0.53151	0.958;0.93	P;B	0.51229	0.663;0.36	T	0.02257	-1.1187	10	0.87932	D	0	-8.2763	10.2696	0.43475	0.9216:0.0:0.0784:0.0	.	462;518	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	K	518;462	ENSP00000325978:I518K;ENSP00000264676:I462K	ENSP00000264676:I462K	I	-	2	0	LRRC31	171040570	1.000000	0.71417	0.002000	0.10522	0.002000	0.02628	4.594000	0.61041	0.711000	0.32018	0.528000	0.53228	ATA		0.408	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727		28	39	0	0	0	1	0	28	39				
PCDHB14	56122	broad.mit.edu	37	5	140603673	140603673	+	Missense_Mutation	SNP	C	C	G	rs564196616		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:140603673C>G	ENST00000239449.4	+	1	596	c.596C>G	c.(595-597)gCt>gGt	p.A199G	PCDHB14_ENST00000515856.2_Missense_Mutation_p.A46G	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	199	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAGATAGAGCTTTAGATTAT	0.443																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(595-597)gCt>gGt									75.0	78.0	77.0					5																	140603673		2203	4300	6503	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603673C>G	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.596C>G	5.37:g.140603673C>G	ENSP00000239449:p.Ala199Gly					PCDHB14_ENST00000515856.2_Missense_Mutation_p.A46G	p.A199G	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	596	+			199			Cadherin 2.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.596C>G	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	9.314	1.056374	0.19907	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.53423	0.62;0.62	5.03	-1.22	0.09494	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.51024	0.1650	M	0.88310	2.945	0.09310	N	1	B	0.19583	0.037	B	0.20577	0.03	T	0.52457	-0.8573	9	0.66056	D	0.02	.	8.0921	0.30807	0.1543:0.7093:0.0:0.1364	.	199	Q9Y5E9	PCDBE_HUMAN	G	46;199	ENSP00000444518:A46G;ENSP00000239449:A199G	ENSP00000239449:A199G	A	+	2	0	PCDHB14	140583857	0.000000	0.05858	0.000000	0.03702	0.488000	0.33401	-1.021000	0.03615	-0.531000	0.06340	0.655000	0.94253	GCT		0.443	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		19	72	0	0	0	1	0	19	72				
SCAMP3	10067	broad.mit.edu	37	1	155230365	155230365	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:155230365G>A	ENST00000302631.3	-	3	337	c.230C>T	c.(229-231)cCc>cTc	p.P77L	CLK2_ENST00000497188.1_5'Flank|SCAMP3_ENST00000355379.3_Missense_Mutation_p.P51L|SCAMP3_ENST00000472397.1_5'Flank	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	77					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGTTCTGTGGGGCTGAGCTT	0.607																																						ENST00000355379.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19						c.(151-153)cCc>cTc		secretory carrier membrane protein 3							129.0	130.0	130.0					1																	155230365		2203	4300	6503	SO:0001583	missense	10067				post-Golgi vesicle-mediated transport|protein transport	integral to membrane		g.chr1:155230365G>A	AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.230C>T	1.37:g.155230365G>A	ENSP00000307275:p.Pro77Leu					SCAMP3_ENST00000302631.3_Missense_Mutation_p.P77L	p.P51L	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	430	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		77					A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	ENST00000302631.3	37	c.152C>T	CCDS1105.1	.	.	.	.	.	.	.	.	.	.	.	26.7	4.759145	0.89843	.	.	ENSG00000116521	ENST00000302631;ENST00000355379	T;T	0.21734	2.31;1.99	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.25827	0.0629	L	0.37850	1.14	0.80722	D	1	B;D;D	0.89917	0.004;1.0;0.993	B;D;P	0.91635	0.01;0.999;0.796	T	0.01853	-1.1260	10	0.87932	D	0	-10.8333	12.5765	0.56367	0.0:0.0:1.0:0.0	.	77;51;77	Q6FHJ5;O14828-2;O14828	.;.;SCAM3_HUMAN	L	77;51	ENSP00000307275:P77L;ENSP00000347540:P51L	ENSP00000307275:P77L	P	-	2	0	SCAMP3	153496989	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.607000	0.90891	2.415000	0.81967	0.650000	0.86243	CCC		0.607	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698		18	64	0	0	0	1	0	18	64				
SH3TC2	79628	broad.mit.edu	37	5	148427438	148427438	+	Missense_Mutation	SNP	C	C	T	rs189591944		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:148427438C>T	ENST00000515425.1	-	3	367	c.266G>A	c.(265-267)cGc>cAc	p.R89H	SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R89H	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	89					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACAGCATGCGCACCTCCTG	0.527																																						ENST00000515425.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(265-267)cGc>cAc		SH3 domain and tetratricopeptide repeats 2							114.0	104.0	107.0					5																	148427438		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148427438C>T	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.266G>A	5.37:g.148427438C>T	ENSP00000423660:p.Arg89His					SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R89H	p.R89H	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	367	-			89					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.266G>A	CCDS4293.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	4.854	0.158796	0.09236	.	.	ENSG00000169247	ENST00000515425;ENST00000512049	T;T	0.75477	-0.94;-0.94	5.38	2.06	0.26882	.	0.705245	0.13816	N	0.360745	T	0.48786	0.1519	N	0.08118	0	0.09310	N	0.999998	B;B;B	0.18310	0.007;0.027;0.007	B;B;B	0.12837	0.001;0.008;0.001	T	0.29427	-1.0012	10	0.13470	T	0.59	.	7.4279	0.27109	0.0:0.6483:0.0:0.3517	.	89;89;89	Q14CC0;D6RFX2;Q8TF17	.;.;S3TC2_HUMAN	H	89	ENSP00000423660:R89H;ENSP00000421860:R89H	ENSP00000313025:R89H	R	-	2	0	SH3TC2	148407631	0.000000	0.05858	0.279000	0.24732	0.206000	0.24218	0.116000	0.15561	0.727000	0.32360	0.655000	0.94253	CGC		0.527	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		4	148	0	0	0	1	0	4	148				
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	43								p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.K43N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(127-129)aaA>aaT																																						SO:0001583	missense	284802							g.chr20:29625885A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.129A>T	20.37:g.29625885A>T	ENSP00000278882:p.Lys43Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N	p.K43N							5	509	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.129A>T		.	.	.	.	.	.	.	.	.	.	a	10.23	1.292024	0.23564	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62364	0.03	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	.	.	.	0.48762	D	0.999701	D	0.71674	0.998	D	0.79784	0.993	T	0.74598	-0.3612	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	48	F5H5R5	.	N	43;48;43	ENSP00000408863:K48N	ENSP00000278882:K43N	K	+	3	2	FRG1B	28239546	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	0.595000	0.24029	1.028000	0.39785	0.155000	0.16302	AAA		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	86	0	0	0	1	0	6	86				
PTGIS	5740	broad.mit.edu	37	20	48124481	48124481	+	Silent	SNP	G	G	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr20:48124481G>C	ENST00000244043.4	-	10	1508	c.1479C>G	c.(1477-1479)ccC>ccG	p.P493P	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	493					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	GGTAGCGGACGGGCACGTCGT	0.622																																						ENST00000244043.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(1477-1479)ccC>ccG		prostaglandin I2 (prostacyclin) synthase	Phenylbutazone(DB00812)						97.0	67.0	77.0					20																	48124481		2203	4300	6503	SO:0001819	synonymous_variant	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48124481G>C		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.1479C>G	20.37:g.48124481G>C						PTGIS_ENST00000478971.1_5'UTR	p.P493P	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		10	1508	-			493					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Silent	SNP	ENST00000244043.4	37	c.1479C>G	CCDS13419.1																																																																																				0.622	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			18	57	0	0	0	1	0	18	57				
ITPK1	3705	broad.mit.edu	37	14	93428702	93428702	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr14:93428702C>T	ENST00000267615.6	-	7	675	c.502G>A	c.(502-504)Gag>Aag	p.E168K	ITPK1_ENST00000555495.1_Missense_Mutation_p.E49K|ITPK1_ENST00000354313.3_Missense_Mutation_p.E168K|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000556603.2_Missense_Mutation_p.E168K			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	168	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CCACTCACCTCGTGAGAGTTG	0.537																																						ENST00000267615.6																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(502-504)Gag>Aag		inositol-tetrakisphosphate 1-kinase							130.0	107.0	115.0					14																	93428702		2203	4300	6503	SO:0001583	missense	3705				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	g.chr14:93428702C>T	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.502G>A	14.37:g.93428702C>T	ENSP00000267615:p.Glu168Lys					ITPK1_ENST00000555495.1_Missense_Mutation_p.E49K|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000556603.2_Missense_Mutation_p.E168K|ITPK1_ENST00000354313.3_Missense_Mutation_p.E168K	p.E168K			Q13572	ITPK1_HUMAN		Epithelial(152;0.124)|all cancers(159;0.169)	7	675	-		all_cancers(154;0.077)|all_epithelial(191;0.247)	168			ATP-grasp.		Q9BTL6|Q9H2E7	Missense_Mutation	SNP	ENST00000267615.6	37	c.502G>A	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862108	0.71949	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000555495;ENST00000267615;ENST00000311458;ENST00000554999;ENST00000556185;ENST00000555553;ENST00000553452;ENST00000557309	T	0.07688	3.17	5.08	5.08	0.68730	ATP-grasp fold (1);	0.048406	0.85682	D	0.000000	T	0.12774	0.0310	L	0.33189	0.99	0.80722	D	1	D;D	0.64830	0.994;0.993	P;B	0.51324	0.666;0.439	T	0.20438	-1.0275	10	0.19590	T	0.45	-17.2455	18.494	0.90858	0.0:1.0:0.0:0.0	.	168;168	Q13572;Q13572-2	ITPK1_HUMAN;.	K	168;198;168;49;168;168;126;186;174;168;168	ENSP00000346272:E168K	ENSP00000267615:E168K	E	-	1	0	ITPK1	92498455	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.678000	0.84035	2.362000	0.80069	0.561000	0.74099	GAG		0.537	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		5	38	0	0	0	1	0	5	38				
OPN3	23596	broad.mit.edu	37	1	241761057	241761057	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:241761057C>T	ENST00000366554.2	-	3	1042	c.936G>A	c.(934-936)atG>atA	p.M312I	OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Missense_Mutation_p.M233I	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	312					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCTTTCTGATCATGAAGACAT	0.383																																						ENST00000366554.2																			0				endometrium(1)|large_intestine(5)|lung(5)	11						c.(934-936)atG>atA		opsin 3							123.0	117.0	119.0					1																	241761057		2203	4300	6503	SO:0001583	missense	23596				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	g.chr1:241761057C>T	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.936G>A	1.37:g.241761057C>T	ENSP00000355512:p.Met312Ile					OPN3_ENST00000331838.5_Missense_Mutation_p.M233I|OPN3_ENST00000469376.1_5'UTR	p.M312I	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		3	1042	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	312					Q8IX08|Q9Y344	Missense_Mutation	SNP	ENST00000366554.2	37	c.936G>A	CCDS31072.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155858	0.57259	.	.	ENSG00000054277	ENST00000366554;ENST00000331838	T;T	0.37752	1.18;1.18	4.36	4.36	0.52297	.	0.046316	0.85682	D	0.000000	T	0.21590	0.0520	L	0.29908	0.895	0.54753	D	0.999983	P	0.44734	0.842	B	0.31442	0.13	T	0.08027	-1.0742	10	0.66056	D	0.02	.	10.5812	0.45257	0.0:0.909:0.0:0.091	.	312	Q9H1Y3	OPN3_HUMAN	I	312;233	ENSP00000355512:M312I;ENSP00000328018:M233I	ENSP00000328018:M233I	M	-	3	0	OPN3	239827680	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.167000	0.58209	2.139000	0.66308	0.563000	0.77884	ATG		0.383	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		4	82	0	0	0	1	0	4	82				
ABCC8	6833	broad.mit.edu	37	11	17432128	17432128	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:17432128G>A	ENST00000389817.3	-	22	2697	c.2629C>T	c.(2629-2631)Cgg>Tgg	p.R877W	ABCC8_ENST00000302539.4_Missense_Mutation_p.R878W			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	877	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TTGTCGTCCCGGAGCAGCTCA	0.577																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2632-2634)Cgg>Tgg		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						147.0	130.0	136.0					11																	17432128		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17432128G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2629C>T	11.37:g.17432128G>A	ENSP00000374467:p.Arg877Trp					ABCC8_ENST00000389817.3_Missense_Mutation_p.R877W	p.R878W	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	22	2757	-			877			ABC transporter 1.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.2632C>T	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832859	0.71258	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.89196	-2.48;-2.48	6.17	4.28	0.50868	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.061164	0.64402	D	0.000004	D	0.92067	0.7486	M	0.93150	3.385	0.48632	D	0.99968	D	0.59767	0.986	P	0.44561	0.453	D	0.92186	0.5755	10	0.48119	T	0.1	.	14.348	0.66680	0.0:0.0:0.7299:0.2701	.	877	Q09428	ABCC8_HUMAN	W	877;878;881	ENSP00000374467:R877W;ENSP00000303960:R878W	ENSP00000303960:R878W	R	-	1	2	ABCC8	17388704	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.206000	0.32321	0.899000	0.36444	-0.182000	0.12963	CGG		0.577	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		36	109	0	0	0	1	0	36	109				
FAT1	2195	broad.mit.edu	37	4	187538955	187538955	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr4:187538955C>A	ENST00000441802.2	-	10	8994	c.8785G>T	c.(8785-8787)Gag>Tag	p.E2929*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2929	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGGTCATCCTCACTCACAGTC	0.468										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(8785-8787)Gag>Tag		FAT atypical cadherin 1							125.0	122.0	123.0					4																	187538955		1968	4138	6106	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187538955C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8785G>T	4.37:g.187538955C>A	ENSP00000406229:p.Glu2929*	HNSCC(5;0.00058)					p.E2929*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	8994	-			2929			Cadherin 27.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.8785G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	51	17.540179	0.99888	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.7858	0.91954	0.0:1.0:0.0:0.0	.	.	.	.	X	2929;2931	.	ENSP00000260147:E2931X	E	-	1	0	FAT1	187775949	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.609000	0.82925	2.740000	0.93945	0.650000	0.86243	GAG		0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		15	60	1	0	1.05317e-09	1	1.09266e-09	15	60				
MTUS2	23281	broad.mit.edu	37	13	29599206	29599206	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr13:29599206C>T	ENST00000431530.3	+	1	459	c.401C>T	c.(400-402)aCg>aTg	p.T134M		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	124						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTGCAGACCACGCGGAGTATT	0.502																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(400-402)aCg>aTg		microtubule associated tumor suppressor candidate 2							98.0	99.0	99.0					13																	29599206		2058	4203	6261	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599206C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.401C>T	13.37:g.29599206C>T	ENSP00000392057:p.Thr134Met						p.T134M	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	459	+			124					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.401C>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	9.785	1.176368	0.21704	.	.	ENSG00000132938	ENST00000431530	T	0.11930	2.73	5.31	3.58	0.41010	.	0.742004	0.12019	N	0.507126	T	0.07007	0.0178	N	0.08118	0	0.19775	N	0.99996	B	0.27286	0.174	B	0.23574	0.047	T	0.41592	-0.9500	9	.	.	.	.	9.7646	0.40552	0.0:0.8298:0.0:0.1702	.	124	Q5JR59	MTUS2_HUMAN	M	134	ENSP00000392057:T134M	.	T	+	2	0	MTUS2	28497206	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.976000	0.29462	0.614000	0.30107	0.655000	0.94253	ACG		0.502	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		24	83	0	0	0	1	0	24	83				
CER1	9350	broad.mit.edu	37	9	14720279	14720279	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr9:14720279A>T	ENST00000380911.3	-	2	657	c.613T>A	c.(613-615)Tcc>Acc	p.S205T		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	205	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TGAGAGCAGGAGGTATGGGAG	0.517																																						ENST00000380911.3																			0				endometrium(2)|large_intestine(3)|lung(6)	11						c.(613-615)Tcc>Acc		cerberus 1, DAN family BMP antagonist							129.0	104.0	113.0					9																	14720279		2203	4300	6503	SO:0001583	missense	9350				BMP signaling pathway	extracellular space	cytokine activity	g.chr9:14720279A>T	AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"""cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)"", ""cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"""			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.613T>A	9.37:g.14720279A>T	ENSP00000370297:p.Ser205Thr						p.S205T	NM_005454.2	NP_005445.1	O95813	CER1_HUMAN		GBM - Glioblastoma multiforme(50;3.16e-06)	2	657	-			205			CTCK.		Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Missense_Mutation	SNP	ENST00000380911.3	37	c.613T>A	CCDS6476.1	.	.	.	.	.	.	.	.	.	.	A	4.708	0.131685	0.08981	.	.	ENSG00000147869	ENST00000380911	T	0.32023	1.47	5.52	5.52	0.82312	DAN (1);Cystine knot, C-terminal (2);	0.000000	0.64402	D	0.000002	T	0.22627	0.0546	L	0.35542	1.07	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.12142	-1.0559	10	0.23891	T	0.37	-14.5123	11.0717	0.48008	0.8616:0.0:0.0:0.1384	.	205	O95813	CER1_HUMAN	T	205	ENSP00000370297:S205T	ENSP00000370297:S205T	S	-	1	0	CER1	14710279	1.000000	0.71417	0.949000	0.38748	0.112000	0.19704	5.531000	0.67148	2.228000	0.72767	0.533000	0.62120	TCC		0.517	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	NM_005454		17	66	0	0	0	1	0	17	66				
SLC3A2	6520	broad.mit.edu	37	11	62656015	62656015	+	Silent	SNP	C	C	T	rs143862119		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:62656015C>T	ENST00000377890.2	+	12	1911	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	SLC3A2_ENST00000338663.7_Silent_p.S480S|SLC3A2_ENST00000535296.1_Silent_p.S550S|SLC3A2_ENST00000377892.1_Silent_p.S612S|SLC3A2_ENST00000377889.2_Silent_p.S519S|SLC3A2_ENST00000377891.2_Silent_p.S582S|SLC3A2_ENST00000536981.1_Silent_p.S126S	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	581					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TGCAGGCCTCCGACCTGCCTG	0.627																																						ENST00000377892.1																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						c.(1834-1836)tcC>tcT		solute carrier family 3 (amino acid transporter heavy chain), member 2		C	,,,	2,4400	825.0+/-416.5	0,2,2199	73.0	78.0	76.0		1746,1557,1440,1743	0.3	0.0	11	dbSNP_134	76	4,8592	818.4+/-406.9	0,4,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC3A2	NM_001012662.2,NM_001012664.2,NM_001013251.2,NM_002394.5	,,,	0,6,6493	TT,TC,CC		0.0465,0.0454,0.0462	,,,	582/632,519/569,480/530,581/631	62656015	6,12992	2201	4298	6499	SO:0001819	synonymous_variant	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62656015C>T		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.1743C>T	11.37:g.62656015C>T						SLC3A2_ENST00000377891.2_Silent_p.S582S|SLC3A2_ENST00000536981.1_Silent_p.S126S|SLC3A2_ENST00000377890.2_Silent_p.S581S|SLC3A2_ENST00000338663.7_Silent_p.S480S|SLC3A2_ENST00000377889.2_Silent_p.S519S|SLC3A2_ENST00000535296.1_Silent_p.S550S	p.S612S			P08195	4F2_HUMAN			13	2060	+			581	E -> G (in Ref. 4; AAA35536).				Q13543	Silent	SNP	ENST00000377890.2	37	c.1836C>T	CCDS8039.2																																																																																				0.627	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		29	132	0	0	0	1	0	29	132				
COL17A1	1308	broad.mit.edu	37	10	105836188	105836188	+	Splice_Site	SNP	C	C	T	rs111607386		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr10:105836188C>T	ENST00000353479.5	-	5	493		c.e5-1		COL17A1_ENST00000369733.3_Splice_Site|COL17A1_ENST00000393211.3_Splice_Site	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1						cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTGCTTCCAGCTGCAAGAGGG	0.527																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.e5-1		collagen, type XVII, alpha 1							123.0	120.0	121.0					10																	105836188		2203	4300	6503	SO:0001630	splice_region_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105836188C>T	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.203-1G>A	10.37:g.105836188C>T						COL17A1_ENST00000393211.3_Splice_Site|COL17A1_ENST00000369733.3_Splice_Site		NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	5	493	-		Colorectal(252;0.103)|Breast(234;0.122)						Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Splice_Site	SNP	ENST00000353479.5	37		CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710927	0.30322	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7751	0.91908	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL17A1	105826178	1.000000	0.71417	0.986000	0.45419	0.086000	0.17979	3.232000	0.51302	2.532000	0.85374	0.561000	0.74099	.		0.527	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494	Intron	14	93	0	0	0	1	0	14	93				
HSPG2	3339	broad.mit.edu	37	1	22176563	22176563	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:22176563G>A	ENST00000374695.3	-	57	7496	c.7417C>T	c.(7417-7419)Cgc>Tgc	p.R2473C	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2473	Ig-like C2-type 10.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CTGCCCCCGCGCTTGTGCCAC	0.657																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(7417-7419)Cgc>Tgc		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						89.0	102.0	97.0					1																	22176563		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22176563G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7417C>T	1.37:g.22176563G>A	ENSP00000363827:p.Arg2473Cys					HSPG2_ENST00000430507.1_3'UTR	p.R2473C	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	57	7496	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2473			Ig-like C2-type 10.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.7417C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339544	0.60963	.	.	ENSG00000142798	ENST00000374695	T	0.15603	2.41	5.29	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37178	N	0.002202	T	0.46833	0.1413	M	0.92268	3.29	0.46298	D	0.998978	D;D	0.89917	1.0;1.0	D;D	0.67900	0.953;0.954	T	0.54214	-0.8327	10	0.52906	T	0.07	.	9.969	0.41743	0.0917:0.0:0.9083:0.0	.	413;2473	Q59EG0;P98160	.;PGBM_HUMAN	C	2473	ENSP00000363827:R2473C	ENSP00000363827:R2473C	R	-	1	0	HSPG2	22049150	1.000000	0.71417	0.998000	0.56505	0.770000	0.43624	4.791000	0.62460	2.478000	0.83669	0.561000	0.74099	CGC		0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		39	154	0	0	0	1	0	39	154				
CDH10	1008	broad.mit.edu	37	5	24487949	24487949	+	Silent	SNP	G	G	A	rs542487965		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:24487949G>A	ENST00000264463.4	-	12	2697	c.2190C>T	c.(2188-2190)taC>taT	p.Y730Y	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	730					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y730Y(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CAAGTGAGTCGTAGGGGGGTG	0.463										HNSCC(23;0.051)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		15892	0.0		0.0	False		,,,				2504	0.0					ENST00000264463.4																			1	Substitution - coding silent(1)	p.Y730Y(1)	large_intestine(1)	NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(2188-2190)taC>taT		cadherin 10, type 2 (T2-cadherin)							106.0	109.0	108.0					5																	24487949		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24487949G>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2190C>T	5.37:g.24487949G>A		HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.Y730Y	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2697	-			730					Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.2190C>T	CCDS3892.1																																																																																				0.463	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		32	91	0	0	0	1	0	32	91				
LDHAL6B	92483	broad.mit.edu	37	15	59499631	59499631	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:59499631C>T	ENST00000307144.4	+	1	590	c.492C>T	c.(490-492)gcC>gcT	p.A164A	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	164					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						GAAATGTGGCCATCTTCAAGT	0.423																																						ENST00000307144.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						c.(490-492)gcC>gcT		lactate dehydrogenase A-like 6B	NADH(DB00157)						158.0	157.0	157.0					15																	59499631		2191	4290	6481	SO:0001819	synonymous_variant	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499631C>T	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.492C>T	15.37:g.59499631C>T						MYO1E_ENST00000288235.4_Intron	p.A164A	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN			1	590	+			164					Q6DUY4|Q96LI2	Silent	SNP	ENST00000307144.4	37	c.492C>T	CCDS10171.1																																																																																				0.423	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		39	115	0	0	0	1	0	39	115				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	115	0	0	0	1	0	4	115				
ACSM3	6296	broad.mit.edu	37	16	20803433	20803433	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr16:20803433A>T	ENST00000289416.5	+	11	1911	c.1436A>T	c.(1435-1437)gAt>gTt	p.D479V	ACSM3_ENST00000450120.2_Missense_Mutation_p.D471V|ACSM3_ENST00000567387.1_3'UTR|ERI2_ENST00000300005.3_Intron	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	479					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AGAGCAGATGATGTCATATTA	0.398																																						ENST00000289416.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						c.(1435-1437)gAt>gTt		acyl-CoA synthetase medium-chain family member 3							257.0	245.0	249.0					16																	20803433		2201	4300	6501	SO:0001583	missense	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20803433A>T	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1436A>T	16.37:g.20803433A>T	ENSP00000289416:p.Asp479Val					ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000450120.2_Missense_Mutation_p.D471V|ACSM3_ENST00000567387.1_3'UTR	p.D479V	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN			11	1911	+			479					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	c.1436A>T	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.943150	0.53079	.	.	ENSG00000005187	ENST00000289416;ENST00000450120	T;T	0.60424	0.19;0.19	5.59	5.59	0.84812	AMP-dependent synthetase/ligase (1);	0.054129	0.64402	D	0.000001	D	0.84597	0.5507	H	0.97659	4.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90227	0.4276	10	0.87932	D	0	-25.869	15.7799	0.78252	1.0:0.0:0.0:0.0	.	471;479	E7ETR5;Q53FZ2	.;ACSM3_HUMAN	V	479;471	ENSP00000289416:D479V;ENSP00000395297:D471V	ENSP00000289416:D479V	D	+	2	0	ACSM3	20710934	1.000000	0.71417	0.967000	0.41034	0.260000	0.26232	7.668000	0.83897	2.127000	0.65507	0.528000	0.53228	GAT		0.398	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		46	108	0	0	0	1	0	46	108				
KALRN	8997	broad.mit.edu	37	3	124390517	124390517	+	Silent	SNP	G	G	A	rs369107575		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:124390517G>A	ENST00000291478.5	+	15	1783	c.1620G>A	c.(1618-1620)tcG>tcA	p.S540S	KALRN_ENST00000428018.2_Silent_p.S508S|KALRN_ENST00000360013.3_Silent_p.S2237S|KALRN_ENST00000393496.1_Silent_p.S578S|KALRN_ENST00000459915.1_Silent_p.S329S	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2236					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CACTGCAATCGCCCATTGAGT	0.532																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(6709-6711)tcG>tcA		kalirin, RhoGEF kinase		G	,	1,4405	2.1+/-5.4	0,1,2202	86.0	91.0	89.0		6711,1620	-4.5	1.0	3		89	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KALRN	NM_001024660.3,NM_007064.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	2237/2987,540/1290	124390517	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124390517G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.1620G>A	3.37:g.124390517G>A						KALRN_ENST00000459915.1_Silent_p.S329S|KALRN_ENST00000428018.2_Silent_p.S508S|KALRN_ENST00000393496.1_Silent_p.S578S|KALRN_ENST00000291478.4_Silent_p.S540S	p.S2237S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			48	6838	+			2236					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	c.6711G>A	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	G	6.956	0.546293	0.13312	2.27E-4	0.0	ENSG00000160145	ENST00000354186	.	.	.	4.45	-4.53	0.03462	.	.	.	.	.	T	0.50034	0.1592	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49204	-0.8964	4	.	.	.	.	7.6678	0.28441	0.5653:0.0:0.2965:0.1382	.	.	.	.	H	2206	.	.	R	+	2	0	KALRN	125873207	0.001000	0.12720	0.978000	0.43139	0.846000	0.48090	-1.497000	0.02289	-0.763000	0.04658	-0.226000	0.12346	CGC		0.532	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		4	105	0	0	0	1	0	4	105				
IRF7	3665	broad.mit.edu	37	11	613849	613849	+	Silent	SNP	T	T	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:613849T>A	ENST00000397574.2	-	8	1152	c.783A>T	c.(781-783)ccA>ccT	p.P261P	IRF7_ENST00000397566.1_Silent_p.P274P|IRF7_ENST00000525445.1_Silent_p.P155P|IRF7_ENST00000348655.6_Silent_p.P232P|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000397570.1_Silent_p.P232P|IRF7_ENST00000330243.5_Silent_p.P274P	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	261					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCGGGGACTCTGGGGCCGCGG	0.692																																						ENST00000397566.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(820-822)ccA>ccT		interferon regulatory factor 7							22.0	25.0	24.0					11																	613849		2187	4292	6479	SO:0001819	synonymous_variant	3665				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:613849T>A	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.783A>T	11.37:g.613849T>A						IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000397570.1_Silent_p.P232P|IRF7_ENST00000348655.6_Silent_p.P232P|IRF7_ENST00000525445.1_Silent_p.P155P|IRF7_ENST00000397574.2_Silent_p.P261P|IRF7_ENST00000330243.5_Silent_p.P274P	p.P274P	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	1231	-		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	261					B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Silent	SNP	ENST00000397574.2	37	c.822A>T	CCDS7703.1																																																																																				0.692	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		3	7	0	0	0	1	0	3	7				
DMD	1756	broad.mit.edu	37	X	32486771	32486771	+	Silent	SNP	A	A	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chrX:32486771A>T	ENST00000357033.4	-	23	3212	c.3006T>A	c.(3004-3006)acT>acA	p.T1002T	DMD_ENST00000378677.2_Silent_p.T998T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1002					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTCTTTCACAGTGGTGCTGA	0.393																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(3004-3006)acT>acA		dystrophin							69.0	63.0	65.0					X																	32486771		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32486771A>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3006T>A	X.37:g.32486771A>T						DMD_ENST00000378677.2_Silent_p.T998T	p.T1002T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			23	3212	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1002					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.3006T>A	CCDS14233.1																																																																																				0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		12	7	0	0	0	1	0	12	7				
ZFPM1	161882	broad.mit.edu	37	16	88601258	88601258	+	Silent	SNP	G	G	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr16:88601258G>T	ENST00000319555.3	+	10	3214	c.2892G>T	c.(2890-2892)acG>acT	p.T964T		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	964					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)	p.T964T(1)|p.T964fs*39(1)		central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCAAGGGCACGCCGGCGCCGC	0.701																																					Pancreas(49;850 1106 29641 32847 38344)	ENST00000319555.3																			2	Deletion - Frameshift(1)|Substitution - coding silent(1)	p.T964T(1)|p.T964fs*39(1)	ovary(2)	central_nervous_system(1)|ovary(2)|urinary_tract(1)	4						c.(2890-2892)acG>acT		zinc finger protein, FOG family member 1							28.0	33.0	31.0					16																	88601258		2173	4278	6451	SO:0001819	synonymous_variant	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88601258G>T	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.2892G>T	16.37:g.88601258G>T							p.T964T	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	10	3214	+			964						Silent	SNP	ENST00000319555.3	37	c.2892G>T	CCDS32502.1																																																																																				0.701	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			21	43	1	0	2.37509e-13	1	2.49535e-13	21	43				
MRVI1	10335	broad.mit.edu	37	11	10622600	10622600	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:10622600G>A	ENST00000436272.1	-	14	1879	c.1801C>T	c.(1801-1803)Cgc>Tgc	p.R601C	MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000531107.1_Missense_Mutation_p.R620C|MRVI1_ENST00000541483.1_Missense_Mutation_p.R422C|MRVI1_ENST00000552103.1_Missense_Mutation_p.R537C|MRVI1_ENST00000534266.2_Missense_Mutation_p.R313C|MRVI1_ENST00000424001.1_Missense_Mutation_p.R313C|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000547195.1_Missense_Mutation_p.R537C|MRVI1_ENST00000558540.1_Missense_Mutation_p.R313C|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000423302.2_Missense_Mutation_p.R628C|MRVI1_ENST00000527509.2_Missense_Mutation_p.R537C|MRVI1_ENST00000545852.1_Missense_Mutation_p.R313C|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000421747.1_Missense_Mutation_p.R619C			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	601					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCGACATGCGCTTTTCCTGC	0.507																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(1609-1611)Cgc>Tgc		murine retrovirus integration site 1 homolog							230.0	230.0	230.0					11																	10622600		1961	4148	6109	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10622600G>A	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1801C>T	11.37:g.10622600G>A	ENSP00000412229:p.Arg601Cys					MRVI1_ENST00000423302.2_Missense_Mutation_p.R628C|MRVI1_ENST00000531107.1_Missense_Mutation_p.R620C|MRVI1_ENST00000541483.1_Missense_Mutation_p.R422C|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000421747.1_Missense_Mutation_p.R619C|MRVI1_ENST00000552103.1_Missense_Mutation_p.R537C|MRVI1_ENST00000545852.1_Missense_Mutation_p.R313C|MRVI1_ENST00000558540.1_Missense_Mutation_p.R313C|MRVI1_ENST00000534266.2_Missense_Mutation_p.R313C|MRVI1_ENST00000436272.1_Missense_Mutation_p.R601C|MRVI1_ENST00000527509.2_Missense_Mutation_p.R537C|MRVI1_ENST00000424001.1_Missense_Mutation_p.R313C	p.R537C	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	14	2109	-			601			Interaction with ITPR1 (By similarity).		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.1609C>T		.	.	.	.	.	.	.	.	.	.	G	24.2	4.505113	0.85282	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.60261	0.2255	M	0.79123	2.44	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.999	T	0.63373	-0.6652	10	0.87932	D	0	-11.1665	19.635	0.95728	0.0:0.0:1.0:0.0	.	422;601;620;619	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	C	619;602;601;537;537;313;313;628;422;620;537	ENSP00000414598:R619C;ENSP00000412229:R601C;ENSP00000448278:R537C;ENSP00000446764:R537C;ENSP00000441971:R313C;ENSP00000401205:R313C;ENSP00000412130:R628C;ENSP00000437784:R422C;ENSP00000432436:R620C;ENSP00000432067:R537C	ENSP00000307885:R602C	R	-	1	0	MRVI1	10579176	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.502000	0.81614	2.639000	0.89480	0.557000	0.71058	CGC		0.507	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		55	188	0	0	0	1	0	55	188				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*	p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	508	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		7	15	0	0	0	1	0	7	15				
NAALADL1	10004	broad.mit.edu	37	11	64815785	64815785	+	Missense_Mutation	SNP	G	G	A	rs372854698		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:64815785G>A	ENST00000358658.3	-	9	1298	c.1271C>T	c.(1270-1272)aCg>aTg	p.T424M	NAALADL1_ENST00000356632.3_Missense_Mutation_p.T389M|NAALADL1_ENST00000355369.2_Missense_Mutation_p.T424M|NAALADL1_ENST00000355721.3_Missense_Mutation_p.T383M|NAALADL1_ENST00000528884.1_De_novo_Start_OutOfFrame|NAALADL1_ENST00000340252.4_Missense_Mutation_p.T475M|NAALADL1_ENST00000339885.2_Missense_Mutation_p.T424M|NAALADL1_ENST00000526799.1_De_novo_Start_InFrame|RN7SL114P_ENST00000582042.1_RNA	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	424	NAALADase.			LIGST -> SPGLQ (in Ref. 3; AAB87645). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TGTGAATTCCGTGGAGCCAAT	0.632																																						ENST00000528884.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29								N-acetylated alpha-linked acidic dipeptidase-like 1							109.0	107.0	108.0					11																	64815785		2201	4297	6498	SO:0001583	missense	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64815785G>A	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.1271C>T	11.37:g.64815785G>A	ENSP00000351484:p.Thr424Met					NAALADL1_ENST00000355369.2_Missense_Mutation_p.T424M|NAALADL1_ENST00000356632.3_Missense_Mutation_p.T389M|NAALADL1_ENST00000340252.4_Missense_Mutation_p.T475M|NAALADL1_ENST00000526799.1_De_novo_Start_InFrame|NAALADL1_ENST00000355721.3_Missense_Mutation_p.T383M|NAALADL1_ENST00000339885.2_Missense_Mutation_p.T424M|NAALADL1_ENST00000358658.3_Missense_Mutation_p.T424M				Q9UQQ1	NALDL_HUMAN			0	144	-								C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Translation_Start_Site	SNP	ENST00000358658.3	37		CCDS31604.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380090	0.82682	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	4.56	4.56	0.56223	Peptidase M28 (1);	0.052909	0.85682	D	0.000000	T	0.73434	0.3586	M	0.91300	3.195	0.46701	D	0.999164	D	0.76494	0.999	D	0.68192	0.956	T	0.80696	-0.1267	10	0.87932	D	0	-10.8184	14.8536	0.70316	0.0:0.0:1.0:0.0	.	424	Q9UQQ1	NALDL_HUMAN	M	424;424;424;424;475;383;389	ENSP00000351484:T424M;ENSP00000347530:T424M;ENSP00000340111:T424M;ENSP00000344244:T475M;ENSP00000347955:T383M;ENSP00000349045:T389M	ENSP00000340111:T424M	T	-	2	0	NAALADL1	64572361	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	8.212000	0.89756	2.385000	0.81259	0.549000	0.68633	ACG		0.632	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		24	151	0	0	0	1	0	24	151				
GGT3P	2679	broad.mit.edu	37	22	18769697	18769697	+	RNA	SNP	A	A	G	rs370008023		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr22:18769697A>G	ENST00000412448.1	-	0	981							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										GTTTTCCAGGACTGCCGCCAA	0.682																																						ENST00000412448.1																			0																																																			2679							g.chr22:18769697A>G			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769697A>G														0	981	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.682	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		5	180	0	0	0	1	0	5	180				
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr21:11058353T>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							20.0	18.0	19.0					21																	11058353		692	1589	2281			85319							g.chr21:11058353T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058353T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	65	0	0	0	1	0	5	65				
PTCH1	5727	broad.mit.edu	37	9	98238420	98238420	+	Nonsense_Mutation	SNP	T	T	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr9:98238420T>A	ENST00000331920.6	-	12	1923	c.1624A>T	c.(1624-1626)Aag>Tag	p.K542*	PTCH1_ENST00000421141.1_Nonsense_Mutation_p.K391*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.K541*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.K391*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.K476*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.K391*|PTCH1_ENST00000430669.2_Nonsense_Mutation_p.K476*	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	542	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCTGTGCGCTTCAGGCACTCC	0.582																																						ENST00000430669.2																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(1426-1428)Aag>Tag		patched 1							65.0	49.0	54.0					9																	98238420		2203	4300	6503	SO:0001587	stop_gained	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98238420T>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1624A>T	9.37:g.98238420T>A	ENSP00000332353:p.Lys542*					PTCH1_ENST00000331920.6_Nonsense_Mutation_p.K542*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.K391*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.K391*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.K391*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.K541*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.K476*	p.K476*			Q13635	PTC1_HUMAN			12	2011	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	542			SSD.		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Nonsense_Mutation	SNP	ENST00000331920.6	37	c.1426A>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	T	42	9.590232	0.99213	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.0936	15.3444	0.74324	0.0:0.0:0.0:1.0	.	.	.	.	X	542;476;391;391;476;391;541;207	.	ENSP00000332353:K542X	K	-	1	0	PTCH1	97278241	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	3.013000	0.49582	2.263000	0.75096	0.533000	0.62120	AAG		0.582	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		7	28	0	0	0	1	0	7	28				
INPP5D	3635	broad.mit.edu	37	2	234104109	234104109	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:234104109C>T	ENST00000359570.5	+	26	2625	c.2625C>T	c.(2623-2625)caC>caT	p.H875H	INPP5D_ENST00000455936.2_Silent_p.H639H|INPP5D_ENST00000450745.1_Silent_p.H639H			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	887					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCACCAGCCACGACCCCATGA	0.557																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(2623-2625)caC>caT		inositol polyphosphate-5-phosphatase, 145kDa							68.0	69.0	69.0					2																	234104109		1941	4129	6070	SO:0001819	synonymous_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234104109C>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2625C>T	2.37:g.234104109C>T						INPP5D_ENST00000450745.1_Silent_p.H639H|INPP5D_ENST00000455936.2_Silent_p.H639H	p.H875H			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	26	2625	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	887					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Silent	SNP	ENST00000359570.5	37	c.2625C>T																																																																																					0.557	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		25	99	0	0	0	1	0	25	99				
MDC1	9656	broad.mit.edu	37	6	30672770	30672770	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:30672770T>A	ENST00000376406.3	-	10	4837	c.4190A>T	c.(4189-4191)aAt>aTt	p.N1397I	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.N1133I	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1397	Interaction with the PRKDC complex.|Pro-rich.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						AGAGGATCTATTTTTTCTTCC	0.562								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(4189-4191)aAt>aTt	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							92.0	100.0	98.0					6																	30672770		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30672770T>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4190A>T	6.37:g.30672770T>A	ENSP00000365588:p.Asn1397Ile					MDC1_ENST00000376405.2_Missense_Mutation_p.N1133I|MDC1-AS1_ENST00000442150.1_RNA	p.N1397I	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			10	4837	-			1397			Interaction with the PRKDC complex.|Pro-rich.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.4190A>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	T	7.906	0.735510	0.15574	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000422104	T;T	0.10005	2.92;2.92	3.02	-4.53	0.03462	.	.	.	.	.	T	0.02649	0.0080	L	0.57536	1.79	0.09310	N	1	P;B	0.39352	0.669;0.101	B;B	0.31547	0.132;0.019	T	0.29088	-1.0023	9	0.42905	T	0.14	5.0845	6.3834	0.21548	0.0:0.5743:0.1854:0.2402	.	1133;1397	Q14676-2;Q14676	.;MDC1_HUMAN	I	1397;1133;963	ENSP00000365588:N1397I;ENSP00000365587:N1133I	ENSP00000365587:N1133I	N	-	2	0	MDC1	30780749	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-4.340000	0.00250	-0.810000	0.04375	0.248000	0.18094	AAT		0.562	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		46	117	0	0	0	1	0	46	117				
CD40	958	broad.mit.edu	37	20	44751845	44751845	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr20:44751845C>T	ENST00000372285.3	+	5	556	c.484C>T	c.(484-486)Cac>Tac	p.H162Y	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Missense_Mutation_p.H162Y	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	162					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				CGAAAAATGTCACCCTTGGAC	0.547									Immune Deficiency with Hyper-IgM																													ENST00000372285.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(484-486)Cac>Tac		CD40 molecule, TNF receptor superfamily member 5	Simvastatin(DB00641)						235.0	217.0	223.0					20																	44751845		2203	4300	6503	SO:0001583	missense	958	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	g.chr20:44751845C>T	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11919	protein-coding gene	gene with protein product		109535	"""tumor necrosis factor receptor superfamily, member 5"""	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.484C>T	20.37:g.44751845C>T	ENSP00000361359:p.His162Tyr					CD40_ENST00000372276.3_Missense_Mutation_p.H162Y|CD40_ENST00000489304.1_3'UTR	p.H162Y	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN			5	556	+		Myeloproliferative disorder(115;0.0122)	162					E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Missense_Mutation	SNP	ENST00000372285.3	37	c.484C>T	CCDS13393.1	.	.	.	.	.	.	.	.	.	.	C	3.703	-0.061215	0.07317	.	.	ENSG00000101017	ENST00000372285;ENST00000372276	T;T	0.61158	0.13;0.13	4.76	3.79	0.43588	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.963476	0.08606	N	0.920765	T	0.50531	0.1621	L	0.46157	1.445	0.22620	N	0.998923	B;B	0.11235	0.004;0.004	B;B	0.17098	0.009;0.017	T	0.38436	-0.9661	10	0.27082	T	0.32	-2.2368	9.1826	0.37152	0.0:0.899:0.0:0.101	.	162;162	P25942-2;P25942	.;TNR5_HUMAN	Y	162	ENSP00000361359:H162Y;ENSP00000361350:H162Y	ENSP00000361350:H162Y	H	+	1	0	CD40	44185252	0.637000	0.27216	0.977000	0.42913	0.089000	0.18198	1.045000	0.30341	1.200000	0.43188	0.471000	0.43371	CAC		0.547	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1	NM_001250		85	135	0	0	0	1	0	85	135				
OR2G6	391211	broad.mit.edu	37	1	248685522	248685522	+	Missense_Mutation	SNP	C	C	T	rs374685472		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:248685522C>T	ENST00000343414.4	+	1	607	c.575C>T	c.(574-576)aCg>aTg	p.T192M		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGTGGATACGACTTTCAAC	0.498																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(574-576)aCg>aTg		olfactory receptor, family 2, subfamily G, member 6		C	MET/THR	1,4405		0,1,2202	121.0	122.0	122.0		575	2.8	0.6	1		122	0,8600		0,0,4300	no	missense	OR2G6	NM_001013355.1	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	192/317	248685522	1,13005	2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685522C>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.575C>T	1.37:g.248685522C>T	ENSP00000341291:p.Thr192Met						p.T192M	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	607	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	192					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.575C>T	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	12.47	1.948886	0.34377	2.27E-4	0.0	ENSG00000188558	ENST00000343414	T	0.00265	8.39	3.68	2.76	0.32466	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	U	0.000345	T	0.00666	0.0022	M	0.93328	3.405	0.25817	N	0.984321	D	0.89917	1.0	D	0.87578	0.998	T	0.21348	-1.0248	10	0.87932	D	0	.	8.0808	0.30744	0.0:0.8808:0.0:0.1192	.	192	Q5TZ20	OR2G6_HUMAN	M	192	ENSP00000341291:T192M	ENSP00000341291:T192M	T	+	2	0	OR2G6	246752145	0.040000	0.19996	0.647000	0.29507	0.219000	0.24729	2.081000	0.41596	0.729000	0.32403	0.400000	0.26472	ACG		0.498	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		14	34	0	0	0	1	0	14	34				
RIF1	55183	broad.mit.edu	37	2	152298457	152298457	+	Silent	SNP	A	A	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:152298457A>G	ENST00000243326.5	+	15	2169	c.1686A>G	c.(1684-1686)aaA>aaG	p.K562K	RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000453091.2_Silent_p.K562K|RIF1_ENST00000430328.2_Silent_p.K562K|RIF1_ENST00000444746.2_Silent_p.K562K|RIF1_ENST00000428287.2_Silent_p.K562K			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTCCTCAGAAAGTATTAGGTT	0.294																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(1684-1686)aaA>aaG		RAP1 interacting factor homolog (yeast)							62.0	64.0	64.0					2																	152298457		2202	4283	6485	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152298457A>G	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1686A>G	2.37:g.152298457A>G						RIF1_ENST00000453091.2_Silent_p.K562K|RIF1_ENST00000444746.2_Silent_p.K562K|RIF1_ENST00000428287.2_Silent_p.K562K|RIF1_ENST00000430328.2_Silent_p.K562K|RIF1_ENST00000433166.2_3'UTR	p.K562K			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	15	2169	+			562					A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.1686A>G	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	8.775	0.926866	0.18056	.	.	ENSG00000080345	ENST00000414861	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	T	0.71230	0.3315	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70594	-0.4829	4	.	.	.	-23.9968	15.0898	0.72185	1.0:0.0:0.0:0.0	.	.	.	.	G	554	.	.	S	+	1	0	RIF1	152006703	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.042000	0.70996	2.055000	0.61198	0.528000	0.53228	AGT		0.294	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			7	34	0	0	0	1	0	7	34				
NCL	4691	broad.mit.edu	37	2	232320229	232320229	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:232320229G>A	ENST00000322723.4	-	13	2179	c.1939C>T	c.(1939-1941)Cct>Tct	p.P647S	SNORD20_ENST00000384550.1_RNA|SNORA75_ENST00000384158.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	647	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TCACCCTTAGGTTTGGCCCAG	0.552																																						ENST00000322723.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(1939-1941)Cct>Tct		nucleolin							216.0	227.0	224.0					2																	232320229		2203	4300	6503	SO:0001583	missense	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232320229G>A		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1939C>T	2.37:g.232320229G>A	ENSP00000318195:p.Pro647Ser						p.P647S	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	13	2179	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	647			RRM 4.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	c.1939C>T	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598327	0.87055	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000356936	T;T	0.74842	-0.88;-0.88	5.91	5.91	0.95273	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	D	0.83198	0.5202	M	0.80847	2.515	0.80722	D	1	P	0.46784	0.884	P	0.50270	0.636	D	0.83764	0.0216	10	0.52906	T	0.07	-15.0471	19.3343	0.94309	0.0:0.0:1.0:0.0	.	647	P19338	NUCL_HUMAN	S	647;539;419;272	ENSP00000318195:P647S;ENSP00000349410:P272S	ENSP00000318195:P647S	P	-	1	0	NCL	232028473	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	9.256000	0.95535	2.816000	0.96949	0.644000	0.83932	CCT		0.552	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		7	295	0	0	0	1	0	7	295				
ATP10A	57194	broad.mit.edu	37	15	25953377	25953377	+	Silent	SNP	C	C	T	rs185028547	byFrequency	TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:25953377C>T	ENST00000356865.6	-	11	2526	c.2415G>A	c.(2413-2415)gcG>gcA	p.A805A		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	805					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCAGGCCTTCCGCCGCATACA	0.577													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16178	0.0		0.001	False		,,,				2504	0.0					ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2413-2415)gcG>gcA		ATPase, class V, type 10A							124.0	106.0	112.0					15																	25953377		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25953377C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2415G>A	15.37:g.25953377C>T							p.A805A	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	11	2526	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	805					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.2415G>A	CCDS32178.1																																																																																				0.577	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		31	59	0	0	0	1	0	31	59				
PHLPP1	23239	broad.mit.edu	37	18	60609124	60609124	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr18:60609124A>G	ENST00000262719.5	+	11	3368	c.3134A>G	c.(3133-3135)tAt>tGt	p.Y1045C	PHLPP1_ENST00000400316.4_Missense_Mutation_p.Y533C			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1045					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						CACATGGCCTATAACCGACTT	0.413																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(1597-1599)tAt>tGt		PH domain and leucine rich repeat protein phosphatase 1							64.0	61.0	62.0					18																	60609124		1874	4102	5976	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60609124A>G	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3134A>G	18.37:g.60609124A>G	ENSP00000262719:p.Tyr1045Cys					PHLPP1_ENST00000262719.5_Missense_Mutation_p.Y1045C	p.Y533C	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			11	3379	+			1045					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.1598A>G	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	A	19.54	3.846396	0.71603	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.57107	0.42;0.42	5.01	5.01	0.66863	.	.	.	.	.	T	0.62636	0.2444	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.64042	0.921	T	0.62604	-0.6819	9	0.44086	T	0.13	-13.9957	10.1808	0.42965	0.8516:0.0:0.0:0.1484	.	1045	O60346	PHLP1_HUMAN	C	533;1045	ENSP00000383170:Y533C;ENSP00000262719:Y1045C	ENSP00000262719:Y1045C	Y	+	2	0	PHLPP1	58760104	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.620000	0.61226	2.101000	0.63845	0.477000	0.44152	TAT		0.413	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		14	38	0	0	0	1	0	14	38				
UNC13C	440279	broad.mit.edu	37	15	54542533	54542533	+	Silent	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:54542533G>A	ENST00000260323.11	+	7	3339	c.3339G>A	c.(3337-3339)gaG>gaA	p.E1113E	UNC13C_ENST00000537900.1_Silent_p.E1111E|UNC13C_ENST00000545554.1_Silent_p.E1113E	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1113					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTGTTATGAGTGTGAAGGGC	0.507																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(3337-3339)gaG>gaA		unc-13 homolog C (C. elegans)							103.0	100.0	101.0					15																	54542533		2125	4273	6398	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54542533G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3339G>A	15.37:g.54542533G>A						UNC13C_ENST00000260323.11_Silent_p.E1113E|UNC13C_ENST00000537900.1_Silent_p.E1111E	p.E1113E			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	7	3339	+			1113					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.3339G>A	CCDS45264.1																																																																																				0.507	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		16	39	0	0	0	1	0	16	39				
VPS54	51542	broad.mit.edu	37	2	64147706	64147706	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:64147706A>G	ENST00000272322.4	-	14	2079	c.1925T>C	c.(1924-1926)aTg>aCg	p.M642T	VPS54_ENST00000409558.4_Missense_Mutation_p.M630T|VPS54_ENST00000354504.3_Missense_Mutation_p.M489T			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	642					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GAATGTTTCCATTAATCTAGA	0.328																																						ENST00000354504.3																			0				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1465-1467)aTg>aCg		vacuolar protein sorting 54 homolog (S. cerevisiae)							80.0	80.0	80.0					2																	64147706		2203	4300	6503	SO:0001583	missense	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64147706A>G	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.1925T>C	2.37:g.64147706A>G	ENSP00000272322:p.Met642Thr					VPS54_ENST00000409558.3_Missense_Mutation_p.M630T|VPS54_ENST00000272322.4_Missense_Mutation_p.M642T	p.M489T			Q9P1Q0	VPS54_HUMAN			11	2055	-			642					Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	ENST00000272322.4	37	c.1466T>C	CCDS33208.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.401696	0.42613	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.28069	1.63;1.64;1.64	5.57	4.39	0.52855	.	0.194328	0.64402	D	0.000014	T	0.13670	0.0331	N	0.11154	0.105	0.45704	D	0.998612	B;B;B	0.30824	0.296;0.07;0.114	B;B;B	0.26416	0.069;0.03;0.066	T	0.08249	-1.0731	10	0.02654	T	1	.	12.6621	0.56820	0.8617:0.1383:0.0:0.0	.	489;642;630	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	T	489;642;630;630;642	ENSP00000346499:M489T;ENSP00000272322:M642T;ENSP00000386980:M630T	ENSP00000272322:M642T	M	-	2	0	VPS54	64001210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.799000	0.91895	0.920000	0.36970	0.455000	0.32223	ATG		0.328	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		6	41	0	0	0	1	0	6	41				
MED16	10025	broad.mit.edu	37	19	881689	881689	+	Silent	SNP	G	G	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr19:881689G>C	ENST00000589119.1	-	6	1010	c.1011C>G	c.(1009-1011)ctC>ctG	p.L337L	MED16_ENST00000395808.3_Silent_p.L337L|MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Silent_p.L337L|MED16_ENST00000312090.6_Silent_p.L337L|MED16_ENST00000325464.1_Silent_p.L337L			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	337					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		TCCGCCATTTGAGAATTGTGG	0.572																																						ENST00000312090.6																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1009-1011)ctC>ctG		mediator complex subunit 16							98.0	90.0	93.0					19																	881689		2203	4296	6499	SO:0001819	synonymous_variant	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:881689G>C	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1011C>G	19.37:g.881689G>C						MED16_ENST00000325464.1_Silent_p.L337L|MED16_ENST00000269814.4_Silent_p.L337L|MED16_ENST00000395808.3_Silent_p.L337L|MED16_ENST00000589119.1_Silent_p.L337L|MED16_ENST00000606828.1_Intron	p.L337L			Q9Y2X0	MED16_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)	7	1161	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	337					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	ENST00000589119.1	37	c.1011C>G	CCDS12047.1																																																																																				0.572	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		9	95	0	0	0	1	0	9	95				
LOC101929551	101929551	broad.mit.edu	37	2	8035344	8035344	+	lincRNA	DEL	C	C	-			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:8035344delC	ENST00000416534.1	-	0	332																											GCTGCTCTGTCCCCATGGTTA	0.522																																						ENST00000416534.1																			0																																																			101929551							g.chr2:8035344delC																													2.37:g.8035344delC														0	332	-									RNA	DEL	ENST00000416534.1	37																																																																																						0.522	AC007463.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000323242.1			2	4						2	4	---	---	---	---
ZNF513	130557	broad.mit.edu	37	2	27600959	27600960	+	In_Frame_Ins	INS	-	-	AGCCTT			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:27600959_27600960insAGCCTT	ENST00000323703.6	-	4	1276_1277	c.1078_1079insAAGGCT	c.(1078-1080)ttt>tAAGGCTtt	p.359_360ins*G	ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_In_Frame_Ins_p.297_298ins*G	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	359					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTACAGGCAAAGCCTTTGTCA	0.653																																						ENST00000323703.6																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17						c.(1078-1080)tgc>AAGGCTtgc		zinc finger protein 513																																				SO:0001652	inframe_insertion	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27600959_27600960insAGCCTT	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1073_1078dupAAGGCT	2.37:g.27600960_27600965dupAGCCTT	ENSP00000318373:p.Gly359_Phe360ins*Gly					ZNF513_ENST00000407879.1_In_Frame_Ins_p.297_298insKA|ZNF513_ENST00000491924.1_Intron	p.359_360insKA	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN			4	1276_1277	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		359					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	In_Frame_Ins	INS	ENST00000323703.6	37	c.1078_1079insAAGGCT	CCDS1751.1																																																																																				0.653	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		28	143						28	143	---	---	---	---
SLC39A10	57181	broad.mit.edu	37	2	196545000	196545001	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:196545000_196545001insT	ENST00000409086.3	+	2	509_510	c.234_235insT	c.(235-237)tttfs	p.F79fs	SLC39A10_ENST00000359634.5_Frame_Shift_Ins_p.F79fs|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	79					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GAAGATTATCCTTTTTTGGTTT	0.337																																						ENST00000409086.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34						c.(232-237)tcttttfs		solute carrier family 39 (zinc transporter), member 10																																				SO:0001589	frameshift_variant	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196545000_196545001insT		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.240dupT	2.37:g.196545006_196545006dupT	ENSP00000386766:p.Phe79fs					SLC39A10_ENST00000359634.5_Frame_Shift_Ins_p.SF78fs|SLC39A10_ENST00000541054.1_Intron	p.SF78fs	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		2	509_510	+			78					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Frame_Shift_Ins	INS	ENST00000409086.3	37	c.234_235insT	CCDS33353.1																																																																																				0.337	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		15	77						15	77	---	---	---	---
FAM159B	100132916	broad.mit.edu	37	5	63986522	63986522	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:63986522delC	ENST00000389074.5	+	1	388	c.72delC	c.(70-72)tgcfs	p.C24fs		NM_001164442.1	NP_001157914.1	A6NKW6	F159B_HUMAN	family with sequence similarity 159, member B	24						integral component of membrane (GO:0016021)											CCTTCCAGTGCCCCCGGCGCG	0.682																																						ENST00000389074.5																			0											c.(70-72)tgfs		family with sequence similarity 159, member B				15,2925		6,3,1461						4.9	1.0			12	49,6301		18,13,3144	no	frameshift	FAM159B	NM_001164442.1		24,16,4605	A1A1,A1R,RR		0.7717,0.5102,0.6889				64,9226				SO:0001589	frameshift_variant	100132916					integral to membrane		g.chr5:63986522delC		CCDS47220.1	5q12.3	2010-02-17			ENSG00000145642	ENSG00000145642			34236	protein-coding gene	gene with protein product							Standard	NM_001164442		Approved		uc021xzg.1	A6NKW6	OTTHUMG00000162292	ENST00000389074.5:c.72delC	5.37:g.63986522delC	ENSP00000373726:p.Cys24fs						p.C24fs	NM_001164442.1	NP_001157914.1	A6NKW6	F159B_HUMAN			1	388	+			24						Frame_Shift_Del	DEL	ENST00000389074.5	37	c.72delC	CCDS47220.1																																																																																				0.682	FAM159B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368460.2	XM_001720158		3	3						3	3	---	---	---	---
C6orf89	221477	broad.mit.edu	37	6	36887446	36887447	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:36887446_36887447delTG	ENST00000480824.2	+	8	1212_1213	c.918_919delTG	c.(916-921)tctgtgfs	p.V307fs	C6orf89_ENST00000355190.3_Frame_Shift_Del_p.V314fs|C6orf89_ENST00000510325.2_Frame_Shift_Del_p.V201fs|C6orf89_ENST00000359359.2_Frame_Shift_Del_p.V201fs|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.V307fs			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	307					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						ATTGTCAGTCTGTGGCCATGCC	0.485																																						ENST00000480824.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						c.(916-921)tctgfs		chromosome 6 open reading frame 89																																				SO:0001589	frameshift_variant	221477					integral to membrane		g.chr6:36887446_36887447delTG	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.918_919delTG	6.37:g.36887448_36887449delTG	ENSP00000475947:p.Val307fs					C6orf89_ENST00000359359.2_Frame_Shift_Del_p.SV200fs|C6orf89_ENST00000510325.2_Frame_Shift_Del_p.SV200fs|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.SV306fs|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.SV313fs	p.SV306fs			Q6UWU4	CF089_HUMAN			8	1212_1213	+			306					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Frame_Shift_Del	DEL	ENST00000480824.2	37	c.918_919delTG																																																																																					0.485	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734		12	62						12	62	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150824	65150825	+	RNA	INS	-	-	G	rs374730441|rs202004878|rs183571014|rs553737227	byFrequency	TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr7:65150824_65150825insG	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TCACCCCCCCCCCCGTTAAAAT	0.47																																						ENST00000430126.2																			0																																																			644619							g.chr7:65150824_65150825insG	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150824_65150825insG														0	757	+									RNA	INS	ENST00000430126.2	37																																																																																						0.470	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		2	4						2	4	---	---	---	---
IPO8	10526	broad.mit.edu	37	12	30815384	30815385	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr12:30815384_30815385insA	ENST00000256079.4	-	15	1969_1970	c.1631_1632insT	c.(1630-1632)atgfs	p.M544fs	IPO8_ENST00000544829.1_Frame_Shift_Ins_p.M339fs	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	544					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACAGTTCCTGCATAATAGGCCT	0.342																																						ENST00000256079.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(1630-1632)acafs		importin 8																																				SO:0001589	frameshift_variant	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30815384_30815385insA	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1632dupT	12.37:g.30815385_30815385dupA	ENSP00000256079:p.Met544fs					IPO8_ENST00000544829.1_Frame_Shift_Ins_p.T339fs	p.T544fs	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			15	1969_1970	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		544					B7Z7M3	Frame_Shift_Ins	INS	ENST00000256079.4	37	c.1631_1632insT	CCDS8719.1																																																																																				0.342	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		10	21						10	21	---	---	---	---
RFNG	5986	broad.mit.edu	37	17	80009484	80009484	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr17:80009484delG	ENST00000310496.4	-	1	166	c.159delC	c.(157-159)cccfs	p.P53fs	GPS1_ENST00000578552.1_5'Flank|RFNG_ENST00000429557.3_5'Flank|RFNG_ENST00000584838.1_5'Flank|GPS1_ENST00000392358.2_5'Flank|GPS1_ENST00000355130.2_5'Flank|GPS1_ENST00000583983.1_Intron|GPS1_ENST00000320548.4_5'Flank|GPS1_ENST00000306823.6_5'Flank	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	53					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GCCGCAGGCTgggggcagcgg	0.801																																						ENST00000310496.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(157-159)ccfs		RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							1.0	1.0	1.0					17																	80009484		943	2130	3073	SO:0001589	frameshift_variant	5986				cell differentiation|nervous system development|organ morphogenesis|pattern specification process	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr17:80009484delG	BC069034	CCDS32773.1	17q25.3	2013-02-19	2006-11-13		ENSG00000169733	ENSG00000169733	2.4.1.222	"""Beta 3-glycosyltransferases"""	9974	protein-coding gene	gene with protein product		602578	"""radical fringe (Drosophila) homolog"", ""radical fringe homolog (Drosophila)"""			9187150	Standard	NM_002917		Approved		uc002kdj.3	Q9Y644	OTTHUMG00000178512	ENST00000310496.4:c.159delC	17.37:g.80009484delG	ENSP00000307971:p.Pro53fs					GPS1_ENST00000583983.1_Intron	p.P53fs	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		1	166	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		53					O00588	Frame_Shift_Del	DEL	ENST00000310496.4	37	c.159delC	CCDS32773.1																																																																																				0.801	RFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442263.1	NM_002917		2	4						2	4	---	---	---	---
MC2R	4158	broad.mit.edu	37	18	13884807	13884807	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr18:13884807delA	ENST00000327606.3	-	2	891	c.711delT	c.(709-711)cttfs	p.L237fs		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	237					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGAGGACATGAAGCACAAAGG	0.547																																					Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(709-711)ctfs		melanocortin 2 receptor (adrenocorticotropic hormone)	Corticotropin(DB01285)|Cosyntropin(DB01284)						78.0	71.0	73.0					18																	13884807		2203	4300	6503	SO:0001589	frameshift_variant	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13884807delA		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.711delT	18.37:g.13884807delA	ENSP00000333821:p.Leu237fs						p.L237fs	NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN			2	891	-			237					A8K016|Q3MI45|Q504X6	Frame_Shift_Del	DEL	ENST00000327606.3	37	c.711delT	CCDS11869.1																																																																																				0.547	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			23	72						23	72	---	---	---	---
TCF3	6929	broad.mit.edu	37	19	1615665	1615666	+	Frame_Shift_Ins	INS	-	-	CCGA			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr19:1615665_1615666insCCGA	ENST00000395423.3	-	14	1479_1480	c.1452_1453insTCGG	c.(1450-1455)cggcacfs	p.H485fs	TCF3_ENST00000262965.5_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron|RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000588136.1_Intron			Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					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)			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)		GGTGGGGAGTGCCGAGGGGTGG	0.693			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	ENST00000395423.3				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"""PBX1, HLF, TFPT"""		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1450-1455)cgactcfs		transcription factor 3																																				SO:0001589	frameshift_variant	6929				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	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|transcription coactivator activity|vitamin D response element binding	g.chr19:1615665_1615666insCCGA	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	ENST00000395423.3:c.1449_1452dupTCGG	19.37:g.1615666_1615669dupCCGA	ENSP00000378813:p.His485fs					TCF3_ENST00000262965.5_Intron|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron	p.L485fs			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)	14	1479_1480	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	528					Q53R97|Q6PD70|Q9NP00	Frame_Shift_Ins	INS	ENST00000395423.3	37	c.1452_1453insTCGG																																																																																					0.693	TCF3-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000449374.1	NM_003200		17	64						17	64	---	---	---	---
STMN3	50861	broad.mit.edu	37	20	62273569	62273570	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr20:62273569_62273570insT	ENST00000370053.1	-	4	455_456	c.374_375insA	c.(373-375)aatfs	p.N125fs	STMN3_ENST00000540534.1_Frame_Shift_Ins_p.N114fs	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	125	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			TGAAGTTGTTATTCTCCTCCAG	0.678																																						ENST00000370053.1																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8						c.(373-375)aaafs		stathmin-like 3																																				SO:0001589	frameshift_variant	50861				cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding	g.chr20:62273569_62273570insT	AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.375dupA	20.37:g.62273571_62273571dupT	ENSP00000359070:p.Asn125fs					STMN3_ENST00000540534.1_Frame_Shift_Ins_p.K114fs	p.K125fs	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)		4	455_456	-	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		125					B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Frame_Shift_Ins	INS	ENST00000370053.1	37	c.374_375insA	CCDS13529.1																																																																																				0.678	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080163.1	NM_015894		8	43						8	43	---	---	---	---
C21orf91	54149	broad.mit.edu	37	21	19169235	19169235	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr21:19169235delA	ENST00000400558.3	-	3	418	c.328delT	c.(328-330)tctfs	p.S110fs	C21orf91_ENST00000284881.4_Frame_Shift_Del_p.S110fs|C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000400559.3_Frame_Shift_Del_p.S110fs|AL109761.5_ENST00000428689.1_RNA	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91											endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		GAACATTCAGAATCTGAATCC	0.343																																						ENST00000284881.4																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						c.(328-330)ctfs		chromosome 21 open reading frame 91							96.0	88.0	91.0					21																	19169235		1817	4084	5901	SO:0001589	frameshift_variant	54149							g.chr21:19169235delA	AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"""cold sore susceptibility gene 1"", ""early undifferentiated retina and lens"""		"""chromosome 21 open reading frame 38"""	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.328delT	21.37:g.19169235delA	ENSP00000383403:p.Ser110fs					C21orf91_ENST00000493464.1_5'UTR|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400559.3_Frame_Shift_Del_p.S110fs|C21orf91_ENST00000400558.3_Frame_Shift_Del_p.S110fs	p.S110fs	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN		Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)	3	418	-			110						Frame_Shift_Del	DEL	ENST00000400558.3	37	c.328delT	CCDS42909.1																																																																																				0.343	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000158214.1	NM_017447		19	80						19	80	---	---	---	---
AP001604.3	0	broad.mit.edu	37	21	28793489	28793490	+	lincRNA	INS	-	-	T	rs34195125		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr21:28793489_28793490insT	ENST00000420186.2	-	0	202																											atttttttttcttttttttttt	0.347																																						ENST00000420186.2																			0																																																			0							g.chr21:28793489_28793490insT																													21.37:g.28793500_28793500dupT														0	202	-									RNA	INS	ENST00000420186.2	37																																																																																						0.347	AP001604.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000171665.2			3	3						3	3	---	---	---	---
