#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
SIRPG	55423	broad.mit.edu	37	20	1629713	1629713	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr20:1629713C>T	ENST00000303415.3	-	2	479	c.415G>A	c.(415-417)Gag>Aag	p.E139K	SIRPG_ENST00000381583.2_Missense_Mutation_p.E139K|SIRPG_ENST00000344103.4_Missense_Mutation_p.E139K|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381580.1_Missense_Mutation_p.E106K|SIRPG_ENST00000216927.4_Missense_Mutation_p.E139K	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	139					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AAAGCCATCTCAGTGCCTGGT	0.483																																						ENST00000381580.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						c.(316-318)Gag>Aag		signal-regulatory protein gamma							200.0	178.0	186.0					20																	1629713		2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1629713C>T	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.415G>A	20.37:g.1629713C>T	ENSP00000305529:p.Glu139Lys					SIRPG_ENST00000344103.4_Missense_Mutation_p.E139K|SIRPG_ENST00000381583.2_Missense_Mutation_p.E139K|SIRPG_ENST00000216927.4_Missense_Mutation_p.E139K|SIRPG_ENST00000303415.3_Missense_Mutation_p.E139K	p.E106K			Q9P1W8	SIRPG_HUMAN			2	495	-			139			Ig-like V-type.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.316G>A	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	8.627	0.892760	0.17613	.	.	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.01998	4.51;4.51;4.51;4.51;4.51	1.93	-1.37	0.09056	Immunoglobulin-like fold (1);	1.392740	0.04434	N	0.369761	T	0.02727	0.0082	L	0.41236	1.265	0.09310	N	1	P;B;B	0.41947	0.766;0.006;0.013	B;B;B	0.41440	0.357;0.009;0.015	T	0.48703	-0.9012	10	0.11794	T	0.64	.	8.7785	0.34776	0.0:0.6263:0.3737:0.0	.	139;139;139	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	K	106;139;139;139;139	ENSP00000370992:E106K;ENSP00000342759:E139K;ENSP00000305529:E139K;ENSP00000370995:E139K;ENSP00000216927:E139K	ENSP00000216927:E139K	E	-	1	0	SIRPG	1577713	0.000000	0.05858	0.001000	0.08648	0.273000	0.26683	0.245000	0.18142	-0.287000	0.09064	0.195000	0.17529	GAG		0.483	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		27	157	0	0	0	1	0	27	157				
MIB2	142678	broad.mit.edu	37	1	1565827	1565827	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:1565827G>A	ENST00000357210.4	+	20	3175	c.2959G>A	c.(2959-2961)Gca>Aca	p.A987T	MIB2_ENST00000504599.1_Missense_Mutation_p.A943T|MIB2_ENST00000355826.5_Missense_Mutation_p.A1030T|MIB2_ENST00000378708.1_Missense_Mutation_p.A893T|MIB2_ENST00000518681.1_Missense_Mutation_p.A979T|MIB2_ENST00000505820.2_Missense_Mutation_p.A1044T|MIB2_ENST00000378712.1_3'UTR|MMP23B_ENST00000356026.5_5'Flank|MIB2_ENST00000378710.3_Missense_Mutation_p.A951T|MIB2_ENST00000520777.1_Missense_Mutation_p.A1040T|MMP23B_ENST00000378675.3_5'Flank|MIB2_ENST00000360522.4_Missense_Mutation_p.A952T	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	987					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGGCCACGGCGCATGCGCCCC	0.706																																						ENST00000357210.4																			0				central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(2959-2961)Gca>Aca		mindbomb E3 ubiquitin protein ligase 2							7.0	11.0	9.0					1																	1565827		2007	4096	6103	SO:0001583	missense	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1565827G>A	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.2959G>A	1.37:g.1565827G>A	ENSP00000349741:p.Ala987Thr					MIB2_ENST00000355826.5_Missense_Mutation_p.A1030T|MIB2_ENST00000520777.1_Missense_Mutation_p.A1040T|MIB2_ENST00000378712.1_3'UTR|MIB2_ENST00000505820.2_Missense_Mutation_p.A1044T|MIB2_ENST00000504599.1_Missense_Mutation_p.A943T|MIB2_ENST00000378708.1_Missense_Mutation_p.A893T|MIB2_ENST00000360522.4_Missense_Mutation_p.A952T|MIB2_ENST00000378710.3_Missense_Mutation_p.A951T|MIB2_ENST00000518681.1_Missense_Mutation_p.A979T	p.A987T	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	20	3175	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	987					A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37	c.2959G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	12.81|12.81	2.050516|2.050516	0.36181|0.36181	.|.	.|.	ENSG00000197530|ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000504599;ENST00000378708|ENST00000514234	D;D;D;D;D;D;D;D;D|.	0.84070|.	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8|.	3.66|3.66	2.64|2.64	0.31445|0.31445	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);|.	0.064408|.	0.64402|.	U|.	0.000005|.	T|T	0.18087|0.18087	0.0434|0.0434	N|N	0.01405|0.01405	-0.89|-0.89	0.41039|0.41039	D|D	0.985211|0.985211	P;D;P;D;D;P|.	0.56035|.	0.633;0.965;0.624;0.974;0.957;0.875|.	B;P;B;P;B;B|.	0.48873|.	0.212;0.535;0.261;0.593;0.399;0.107|.	T|T	0.09292|0.09292	-1.0681|-1.0681	10|5	0.30078|.	T|.	0.28|.	-18.2936|-18.2936	8.6835|8.6835	0.34223|0.34223	0.0:0.0:0.5843:0.4157|0.0:0.0:0.5843:0.4157	.|.	952;893;979;1040;973;987|.	Q96AX9-5;F2Z2L2;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9|.	.;.;.;.;.;MIB2_HUMAN|.	T|H	1040;987;952;951;1030;979;1044;943;893|802	ENSP00000428660:A1040T;ENSP00000349741:A987T;ENSP00000353713:A952T;ENSP00000367982:A951T;ENSP00000348081:A1030T;ENSP00000428264:A979T;ENSP00000426103:A1044T;ENSP00000426128:A943T;ENSP00000367980:A893T|.	ENSP00000348081:A1030T|.	A|R	+|+	1|2	0|0	MIB2|MIB2	1555690|1555690	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.961000|0.961000	0.63080|0.63080	3.325000|3.325000	0.52030|0.52030	2.026000|2.026000	0.59711|0.59711	0.450000|0.450000	0.29827|0.29827	GCA|CGC		0.706	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		3	15	0	0	0	1	0	3	15				
SP140L	93349	broad.mit.edu	37	2	231264947	231264947	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr2:231264947G>C	ENST00000415673.2	+	15	1389	c.1303G>C	c.(1303-1305)Gaa>Caa	p.E435Q	SP140L_ENST00000396563.4_Missense_Mutation_p.E400Q|SP140L_ENST00000243810.6_Missense_Mutation_p.E435Q|SP140L_ENST00000444636.1_Missense_Mutation_p.E435Q	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	435						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CCCACCTGTGGAAAGTGAGAA	0.522																																						ENST00000243810.6																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(1303-1305)Gaa>Caa		SP140 nuclear body protein-like							115.0	119.0	118.0					2																	231264947		2093	4242	6335	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231264947G>C	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1303G>C	2.37:g.231264947G>C	ENSP00000397911:p.Glu435Gln					SP140L_ENST00000444636.1_Missense_Mutation_p.E435Q|SP140L_ENST00000415673.2_Missense_Mutation_p.E435Q|SP140L_ENST00000396563.4_Missense_Mutation_p.E400Q	p.E435Q			Q9H930	LY10L_HUMAN			15	1303	+			435					Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.1303G>C	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390676	0.42410	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.88046	-2.33;-1.96;-2.33;-2.33	2.8	1.91	0.25777	.	.	.	.	.	D	0.90048	0.6892	L	0.60455	1.87	0.09310	N	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.964	T	0.78640	-0.2125	9	0.72032	D	0.01	.	5.6876	0.17811	0.1537:0.0:0.8463:0.0	.	400;435	Q9H930-2;Q9H930-4	.;.	Q	435;435;435;400	ENSP00000395195:E435Q;ENSP00000397911:E435Q;ENSP00000243810:E435Q;ENSP00000379811:E400Q	ENSP00000243810:E435Q	E	+	1	0	SP140L	230973191	0.750000	0.28316	0.009000	0.14445	0.011000	0.07611	1.345000	0.33953	0.738000	0.32606	0.313000	0.20887	GAA		0.522	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		6	51	0	0	0	1	0	6	51				
SLC30A9	10463	broad.mit.edu	37	4	42022469	42022469	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr4:42022469A>G	ENST00000264451.7	+	4	551	c.371A>G	c.(370-372)aAg>aGg	p.K124R		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	124					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TATGGCTCAAAGTACACTCAG	0.333																																						ENST00000264451.6																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(370-372)aAg>aGg		solute carrier family 30 (zinc transporter), member 9							135.0	125.0	128.0					4																	42022469		2203	4299	6502	SO:0001583	missense	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42022469A>G	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.371A>G	4.37:g.42022469A>G	ENSP00000264451:p.Lys124Arg						p.K124R	NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN			4	551	+			124					Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Missense_Mutation	SNP	ENST00000264451.7	37	c.371A>G	CCDS3465.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.680673	0.68042	.	.	ENSG00000014824	ENST00000264451	T	0.57436	0.4	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	M	0.66297	2.02	0.80722	D	1	P	0.36282	0.546	B	0.31547	0.132	T	0.52593	-0.8555	10	0.38643	T	0.18	-17.6204	16.6245	0.84952	1.0:0.0:0.0:0.0	.	124	Q6PML9	ZNT9_HUMAN	R	124	ENSP00000264451:K124R	ENSP00000264451:K124R	K	+	2	0	SLC30A9	41717226	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.950000	0.75977	2.323000	0.78572	0.528000	0.53228	AAG		0.333	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3			25	136	0	0	0	1	0	25	136				
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron	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	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; 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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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"""		147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(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	CM971506	TP53	M	rs121913344	c.(916-918)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							120.0	106.0	110.0					17																	7577022		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7577022G>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.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*	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_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*	p.R306*	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)	8	1048	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	306		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.916C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	71	0	0	0	1	0	38	71				
TMEM132C	92293	broad.mit.edu	37	12	128899675	128899675	+	Missense_Mutation	SNP	G	G	A	rs142699896	byFrequency	TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr12:128899675G>A	ENST00000435159.2	+	2	484	c.484G>A	c.(484-486)Ggc>Agc	p.G162S		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	162						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						GGATGACCACGGCGCCGGGGA	0.597													A|||	63	0.0125799	0.0446	0.0058	5008	,	,		16039	0.0		0.0	False		,,,				2504	0.0					ENST00000435159.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						c.(484-486)Ggc>Agc		transmembrane protein 132C		A	SER/GLY	39,1345		0,39,653	14.0	17.0	16.0		484	-8.7	0.0	12	dbSNP_134	16	1,3181		0,1,1590	no	missense	TMEM132C	NM_001136103.2	56	0,40,2243	AA,AG,GG		0.0314,2.8179,0.876	benign	162/1109	128899675	40,4526	692	1591	2283	SO:0001583	missense	92293					integral to membrane		g.chr12:128899675G>A	AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.484G>A	12.37:g.128899675G>A	ENSP00000410852:p.Gly162Ser						p.G162S	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN			2	484	+			162					Q69YX8	Missense_Mutation	SNP	ENST00000435159.2	37	c.484G>A		20	0.009157509157509158	18	0.036585365853658534	2	0.0055248618784530384	0	0.0	0	0.0	A	0.868	-0.732989	0.03135	0.028179	3.14E-4	ENSG00000181234	ENST00000435159	T	0.06849	3.25	4.96	-8.68	0.00859	.	.	.	.	.	T	0.00524	0.0017	N	0.01705	-0.755	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39742	-0.9599	9	0.05351	T	0.99	.	11.3092	0.49353	0.3831:0.1015:0.5154:0.0	.	162	Q8N3T6	T132C_HUMAN	S	162	ENSP00000410852:G162S	ENSP00000410852:G162S	G	+	1	0	TMEM132C	127465628	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-0.014000	0.12656	-2.475000	0.00527	-0.260000	0.10688	GGC		0.597	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_044062		4	11	0	0	0	1	0	4	11				
ANKRD11	29123	broad.mit.edu	37	16	89357577	89357577	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:89357577C>A	ENST00000301030.4	-	5	701	c.241G>T	c.(241-243)Gag>Tag	p.E81*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.E81*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	81					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)		CTCTTCCGCTCAGGGCCCTGC	0.607																																						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.(241-243)Gag>Tag		ankyrin repeat domain 11							44.0	49.0	48.0					16																	89357577		2198	4300	6498	SO:0001587	stop_gained	29123					nucleus		g.chr16:89357577C>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.241G>T	16.37:g.89357577C>A	ENSP00000301030:p.Glu81*					ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.E81*	p.E81*	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)	5	701	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	81					Q6NTG1|Q6QMF8	Nonsense_Mutation	SNP	ENST00000301030.4	37	c.241G>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	41	8.874083	0.98986	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	.	.	.	5.74	5.74	0.90152	.	0.113050	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.9197	0.97082	0.0:1.0:0.0:0.0	.	.	.	.	X	81;81;95	.	ENSP00000301030:E81X	E	-	1	0	ANKRD11	87885078	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.711000	0.84669	2.702000	0.92279	0.655000	0.94253	GAG		0.607	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		8	73	1	0	7.48243e-07	1	7.88149e-07	8	73				
TTN	7273	broad.mit.edu	37	2	179425532	179425532	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr2:179425532C>T	ENST00000591111.1	-	276	80628	c.80404G>A	c.(80404-80406)Gtt>Att	p.V26802I	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V19503I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V28443I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V25875I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V19378I|TTN_ENST00000342175.6_Missense_Mutation_p.V19570I			Q8WZ42	TITIN_HUMAN	titin	26802					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCAATTAACGGCCACAGAC	0.458																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(85327-85329)Gtt>Att		titin							74.0	65.0	68.0					2																	179425532		1939	4147	6086	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425532C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80404G>A	2.37:g.179425532C>T	ENSP00000465570:p.Val26802Ile					TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V26802I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V19378I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V19570I|TTN_ENST00000342992.6_Missense_Mutation_p.V25875I|TTN_ENST00000359218.5_Missense_Mutation_p.V19503I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA	p.V28443I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	85551	-			26802			Fibronectin type-III 107.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.85327G>A		.	.	.	.	.	.	.	.	.	.	C	9.344	1.063737	0.20067	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.97	2.23	0.28157	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47728	0.1461	N	0.11154	0.105	0.43207	D	0.995064	B;B;B;B	0.15473	0.013;0.013;0.013;0.004	B;B;B;B	0.14578	0.011;0.011;0.011;0.011	T	0.32851	-0.9891	9	0.87932	D	0	.	12.89	0.58066	0.0:0.6864:0.0:0.3136	.	19378;19503;19570;26802	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	25875;19378;19570;19503;19376	ENSP00000343764:V25875I;ENSP00000434586:V19378I;ENSP00000340554:V19570I;ENSP00000352154:V19503I	ENSP00000340554:V19570I	V	-	1	0	TTN	179133778	0.597000	0.26874	0.684000	0.30055	0.626000	0.37791	0.280000	0.18790	-0.049000	0.13379	-0.797000	0.03246	GTT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	37	0	0	0	1	0	20	37				
GPR116	221395	broad.mit.edu	37	6	46826630	46826630	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:46826630G>A	ENST00000283296.7	-	17	3298	c.3010C>T	c.(3010-3012)Cct>Tct	p.P1004S	GPR116_ENST00000456426.2_Missense_Mutation_p.P862S|GPR116_ENST00000362015.4_Missense_Mutation_p.P1004S|GPR116_ENST00000545669.1_Missense_Mutation_p.P433S|GPR116_ENST00000265417.7_Missense_Mutation_p.P1004S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1004					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGAGAACTAGGATCTGGGGAG	0.488																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(3010-3012)Cct>Tct		G protein-coupled receptor 116							69.0	66.0	67.0					6																	46826630		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826630G>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3010C>T	6.37:g.46826630G>A	ENSP00000283296:p.Pro1004Ser					GPR116_ENST00000545669.1_Missense_Mutation_p.P433S|GPR116_ENST00000456426.2_Missense_Mutation_p.P862S|GPR116_ENST00000362015.4_Missense_Mutation_p.P1004S|GPR116_ENST00000265417.7_Missense_Mutation_p.P1004S	p.P1004S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3298	-			1004					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.3010C>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	7.932	0.740900	0.15642	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29	5.69	3.89	0.44902	.	0.310930	0.27841	N	0.017636	T	0.09686	0.0238	L	0.35249	1.045	0.09310	N	1	B;B;B;P;B	0.35656	0.052;0.069;0.069;0.514;0.069	B;B;B;B;B	0.30029	0.048;0.03;0.065;0.11;0.065	T	0.07121	-1.0789	10	0.34782	T	0.22	-7.2689	7.4282	0.27111	0.14:0.0:0.7263:0.1336	.	433;559;1004;862;1004	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	S	1004;1004;1004;862;375;1004;433	ENSP00000283296:P1004S;ENSP00000354563:P1004S;ENSP00000412866:P862S;ENSP00000265417:P1004S;ENSP00000441581:P433S	ENSP00000265417:P1004S	P	-	1	0	GPR116	46934589	0.001000	0.12720	0.779000	0.31741	0.501000	0.33797	0.336000	0.19823	1.406000	0.46857	0.555000	0.69702	CCT		0.488	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		9	101	0	0	0	1	0	9	101				
FAT2	2196	broad.mit.edu	37	5	150948293	150948293	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr5:150948293C>G	ENST00000261800.5	-	1	212	c.200G>C	c.(199-201)tGg>tCg	p.W67S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	67	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCACTGCCCACTGTGGCTC	0.478																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(199-201)tGg>tCg		FAT atypical cadherin 2							174.0	176.0	176.0					5																	150948293		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150948293C>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.200G>C	5.37:g.150948293C>G	ENSP00000261800:p.Trp67Ser						p.W67S	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	212	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	67			Cadherin 1.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.200G>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413667	0.62511	.	.	ENSG00000086570	ENST00000261800	T	0.58506	0.33	5.35	4.39	0.52855	Cadherin (3);Cadherin-like (1);	0.110082	0.42294	D	0.000732	T	0.54013	0.1832	L	0.34521	1.04	0.80722	D	1	D	0.57899	0.981	P	0.52758	0.708	T	0.47169	-0.9138	10	0.06757	T	0.87	.	16.7082	0.85378	0.1382:0.8618:0.0:0.0	.	67	Q9NYQ8	FAT2_HUMAN	S	67	ENSP00000261800:W67S	ENSP00000261800:W67S	W	-	2	0	FAT2	150928486	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.839000	0.62810	2.495000	0.84180	0.555000	0.69702	TGG		0.478	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		9	242	0	0	0	1	0	9	242				
HAL	3034	broad.mit.edu	37	12	96370416	96370416	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr12:96370416G>C	ENST00000261208.3	-	19	2091	c.1723C>G	c.(1723-1725)Ccg>Gcg	p.P575A	HAL_ENST00000541929.1_Missense_Mutation_p.P367A|HAL_ENST00000538703.1_Missense_Mutation_p.P575A	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	575					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TTCTCCAGCGGAGTGGTTGTT	0.498																																					NSCLC(169;943 2815 23563 30031)	ENST00000261208.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34						c.(1723-1725)Ccg>Gcg		histidine ammonia-lyase	L-Histidine(DB00117)						92.0	90.0	90.0					12																	96370416		2203	4300	6503	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96370416G>C		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1723C>G	12.37:g.96370416G>C	ENSP00000261208:p.Pro575Ala					HAL_ENST00000541929.1_Missense_Mutation_p.P367A|HAL_ENST00000538703.1_Missense_Mutation_p.P575A	p.P575A	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN			19	2091	-			575					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.1723C>G	CCDS9058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.63|11.63	1.695123|1.695123	0.30052|0.30052	.|.	.|.	ENSG00000084110|ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703|ENST00000548808	T;T;T|.	0.74947|.	-0.89;-0.89;-0.89|.	5.54|5.54	5.54|5.54	0.83059|0.83059	L-Aspartase-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57403|0.57403	0.2051|0.2051	N|N	0.25485|0.25485	0.75|0.75	0.80722|0.80722	D|D	1|1	B;B|.	0.30727|.	0.292;0.048|.	B;B|.	0.32805|.	0.153;0.147|.	T|T	0.50996|0.50996	-0.8761|-0.8761	10|5	0.15066|.	T|.	0.55|.	-12.7605|-12.7605	19.4831|19.4831	0.95018|0.95018	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	575;575|.	F5GXF2;P42357|.	.;HUTH_HUMAN|.	A|C	575;367;575|106	ENSP00000261208:P575A;ENSP00000446364:P367A;ENSP00000440861:P575A|.	ENSP00000261208:P575A|.	P|S	-|-	1|2	0|0	HAL|HAL	94894547|94894547	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.418000|0.418000	0.31294|0.31294	9.476000|9.476000	0.97823|0.97823	2.616000|2.616000	0.88540|0.88540	0.655000|0.655000	0.94253|0.94253	CCG|TCC		0.498	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			17	68	0	0	0	1	0	17	68				
CNTN4	152330	broad.mit.edu	37	3	3085380	3085380	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr3:3085380G>A	ENST00000397461.1	+	22	3187	c.2803G>A	c.(2803-2805)Gga>Aga	p.G935R	CNTN4_ENST00000427331.1_Missense_Mutation_p.G935R|CNTN4_ENST00000397459.2_Missense_Mutation_p.G607R|CNTN4_ENST00000418658.1_Missense_Mutation_p.G935R|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Missense_Mutation_p.G607R|CNTN4_ENST00000358480.3_Missense_Mutation_p.G716R	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	935	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGAAGTAAAAGGATACAAAGT	0.423																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2803-2805)Gga>Aga		contactin 4							61.0	60.0	61.0					3																	3085380		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3085380G>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2803G>A	3.37:g.3085380G>A	ENSP00000380602:p.Gly935Arg					CNTN4_ENST00000427331.1_Missense_Mutation_p.G935R|CNTN4_ENST00000418658.1_Missense_Mutation_p.G935R|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Missense_Mutation_p.G607R|CNTN4_ENST00000397459.2_Missense_Mutation_p.G607R|CNTN4_ENST00000358480.3_Missense_Mutation_p.G716R	p.G935R	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	22	3187	+		Ovarian(110;0.156)	935			Fibronectin type-III 4.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.2803G>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824584	0.90955	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46	5.61	5.61	0.85477	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80534	0.4641	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84854	0.0815	10	0.87932	D	0	.	19.6476	0.95789	0.0:0.0:1.0:0.0	.	934;935	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	R	935;935;935;716;607;607	ENSP00000396010:G935R;ENSP00000380602:G935R;ENSP00000413642:G935R;ENSP00000351267:G716R;ENSP00000380600:G607R;ENSP00000392077:G607R	ENSP00000351267:G716R	G	+	1	0	CNTN4	3060380	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.640000	0.98453	2.653000	0.90120	0.655000	0.94253	GGA		0.423	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			8	53	0	0	0	1	0	8	53				
COX15	1355	broad.mit.edu	37	10	101489468	101489468	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr10:101489468C>G	ENST00000016171.5	-	2	164	c.114G>C	c.(112-114)ttG>ttC	p.L38F	CUTC_ENST00000493385.1_Intron|CUTC_ENST00000370476.5_5'Flank|COX15_ENST00000370483.5_Missense_Mutation_p.L38F			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	38					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GCCCTGGCCTCAAAGGGCGCC	0.507																																						ENST00000370483.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(112-114)ttG>ttC		cytochrome c oxidase assembly homolog 15 (yeast)							76.0	73.0	74.0					10																	101489468		2203	4300	6503	SO:0001583	missense	1355				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr10:101489468C>G	AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.114G>C	10.37:g.101489468C>G	ENSP00000016171:p.Leu38Phe					CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Missense_Mutation_p.L38F	p.L38F	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)	2	164	-		Colorectal(252;0.234)	38					A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	c.114G>C	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580944	0.65992	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	.	.	.	4.97	3.03	0.35002	Peptidase cysteine/serine, trypsin-like (1);	0.397105	0.20956	N	0.082645	T	0.34803	0.0910	L	0.27053	0.805	0.30949	N	0.724972	B;B	0.28324	0.207;0.019	B;B	0.30646	0.118;0.021	T	0.44003	-0.9356	9	0.52906	T	0.07	-0.0327	10.8913	0.46998	0.0:0.7743:0.1426:0.0832	.	38;38	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	F	38	.	ENSP00000016171:L38F	L	-	3	2	COX15	101479458	0.880000	0.30214	0.959000	0.39883	0.991000	0.79684	2.029000	0.41098	1.332000	0.45431	0.555000	0.69702	TTG		0.507	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		16	55	0	0	0	1	0	16	55				
TMEM30A	55754	broad.mit.edu	37	6	75968511	75968511	+	Silent	SNP	A	A	G			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:75968511A>G	ENST00000230461.6	-	6	1206	c.877T>C	c.(877-879)Ttg>Ctg	p.L293L	TMEM30A_ENST00000370050.5_Silent_p.L174L|TMEM30A_ENST00000475111.2_Silent_p.L257L	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	293					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGACATTCAAAGAGTATCGG	0.403																																						ENST00000230461.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(877-879)Ttg>Ctg		transmembrane protein 30A							83.0	80.0	81.0					6																	75968511		2203	4300	6503	SO:0001819	synonymous_variant	55754					integral to membrane		g.chr6:75968511A>G	AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"""chromosome 6 open reading frame 67"""	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.877T>C	6.37:g.75968511A>G						TMEM30A_ENST00000370050.5_Silent_p.L174L|TMEM30A_ENST00000475111.2_Silent_p.L257L	p.L293L	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN			6	1206	-			293					A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Silent	SNP	ENST00000230461.6	37	c.877T>C	CCDS4983.1																																																																																				0.403	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247		3	77	0	0	0	1	0	3	77				
EEF2	1938	broad.mit.edu	37	19	3979393	3979393	+	Silent	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr19:3979393G>A	ENST00000309311.6	-	11	1735	c.1647C>T	c.(1645-1647)gcC>gcT	p.A549A		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	549					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCTCGCCGGCGCCCGCGA	0.657																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1645-1647)gcC>gcT		eukaryotic translation elongation factor 2							85.0	91.0	89.0					19																	3979393		2203	4300	6503	SO:0001819	synonymous_variant	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3979393G>A	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1647C>T	19.37:g.3979393G>A							p.A549A	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1735	-		Hepatocellular(1079;0.137)	549					B2RMP5|D6W618|Q58J86	Silent	SNP	ENST00000309311.6	37	c.1647C>T	CCDS12117.1																																																																																				0.657	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		36	52	0	0	0	1	0	36	52				
GTF3C3	9330	broad.mit.edu	37	2	197636551	197636551	+	Silent	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr2:197636551C>T	ENST00000263956.3	-	15	2270	c.2181G>A	c.(2179-2181)ctG>ctA	p.L727L		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	727					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTGGGTTTTTCAGCATCAAAC	0.428																																						ENST00000263956.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(2179-2181)ctG>ctA		general transcription factor IIIC, polypeptide 3, 102kDa							174.0	156.0	162.0					2																	197636551		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197636551C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.2181G>A	2.37:g.197636551C>T							p.L727L	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			15	2270	-			727					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.2181G>A	CCDS2316.1																																																																																				0.428	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			15	67	0	0	0	1	0	15	67				
NUCKS1	64710	broad.mit.edu	37	1	205687512	205687512	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:205687512C>A	ENST00000367142.4	-	7	930	c.628G>T	c.(628-630)Gag>Tag	p.E210*	NUCKS1_ENST00000464938.1_5'Flank	NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	210						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCCGGTTCCTCATCTTCTTCT	0.522																																						ENST00000367142.4																			0				endometrium(4)|large_intestine(1)|lung(9)	14						c.(628-630)Gag>Tag		nuclear casein kinase and cyclin-dependent kinase substrate 1							164.0	185.0	178.0					1																	205687512		2203	4300	6503	SO:0001587	stop_gained	64710					nucleus		g.chr1:205687512C>A		CCDS30987.1	1q32.1	2008-02-05			ENSG00000069275	ENSG00000069275			29923	protein-coding gene	gene with protein product		611912				11298763	Standard	NM_022731		Approved	NUCKS	uc001hdb.3	Q9H1E3	OTTHUMG00000035996	ENST00000367142.4:c.628G>T	1.37:g.205687512C>A	ENSP00000356110:p.Glu210*						p.E210*	NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		7	930	-	Breast(84;0.07)		210					Q54AC0|Q5PXE7|Q9H1D6|Q9H723	Nonsense_Mutation	SNP	ENST00000367142.4	37	c.628G>T	CCDS30987.1	.	.	.	.	.	.	.	.	.	.	C	37	6.506289	0.97620	.	.	ENSG00000069275	ENST00000367142	.	.	.	5.17	5.17	0.71159	.	0.148191	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-6.4363	18.6024	0.91253	0.0:1.0:0.0:0.0	.	.	.	.	X	210	.	ENSP00000356110:E210X	E	-	1	0	NUCKS1	203954135	1.000000	0.71417	0.948000	0.38648	0.963000	0.63663	6.455000	0.73497	2.557000	0.86248	0.563000	0.77884	GAG		0.522	NUCKS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087729.1	NM_022731		31	246	1	0	1.45844e-13	1	1.63427e-13	31	246				
TCTN3	26123	broad.mit.edu	37	10	97452743	97452743	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr10:97452743G>A	ENST00000371217.5	-	3	456	c.433C>T	c.(433-435)Ccg>Tcg	p.P145S	TCTN3_ENST00000265993.9_Missense_Mutation_p.P163S|TCTN3_ENST00000430368.2_Missense_Mutation_p.P145S|TCTN3_ENST00000371209.5_Missense_Mutation_p.P145S			Q6NUS6	TECT3_HUMAN	tectonic family member 3	145					apoptotic process (GO:0006915)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		GAAGGAAACGGGGAATTACTC	0.428																																						ENST00000265993.8																			0				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15						c.(433-435)Ccg>Tcg		tectonic family member 3							67.0	59.0	62.0					10																	97452743		2203	4300	6503	SO:0001583	missense	26123				apoptosis	integral to membrane		g.chr10:97452743G>A	AK098295	CCDS31258.2, CCDS44461.1	10q24.1	2014-01-28	2007-08-20	2007-08-20	ENSG00000119977	ENSG00000119977		"""Tectonic proteins"""	24519	protein-coding gene	gene with protein product		613847	"""chromosome 10 open reading frame 61"""	C10orf61		12975309	Standard	NM_015631		Approved	DKFZP564D116, TECT3, JBTS18	uc001klb.4	Q6NUS6	OTTHUMG00000018814	ENST00000371217.5:c.433C>T	10.37:g.97452743G>A	ENSP00000360261:p.Pro145Ser					TCTN3_ENST00000430368.1_Missense_Mutation_p.P145S|TCTN3_ENST00000371209.5_Missense_Mutation_p.P145S|TCTN3_ENST00000371217.4_Missense_Mutation_p.P163S	p.P145S	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)	3	676	-		Colorectal(252;0.0815)	145					A6NIC8|B0QZ90|B4DR81|Q6P7P3|Q6UW27|Q6ZQQ0|Q8N7K1|Q8NBQ0|Q96GF7|Q9Y3U1	Missense_Mutation	SNP	ENST00000371217.5	37	c.433C>T	CCDS31258.2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638094	0.87760	.	.	ENSG00000119977	ENST00000265993;ENST00000430368;ENST00000371217;ENST00000371209	D;D;D	0.81908	-1.55;-1.55;-1.55	5.7	5.7	0.88788	Domain of unknown function DUF1619 (1);	0.163209	0.42548	D	0.000684	D	0.88771	0.6527	M	0.64676	1.99	0.31463	N	0.669375	D;D;D	0.89917	1.0;0.974;1.0	D;P;D	0.97110	1.0;0.801;0.999	D	0.85837	0.1395	10	0.20046	T	0.44	-39.2379	15.3315	0.74215	0.0:0.0:1.0:0.0	.	145;145;145	B4DR81;Q6NUS6-2;Q6NUS6	.;.;TECT3_HUMAN	S	145;145;163;145	ENSP00000265993:P145S;ENSP00000387567:P145S;ENSP00000360253:P145S	ENSP00000265993:P145S	P	-	1	0	TCTN3	97442733	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	5.380000	0.66202	2.675000	0.91044	0.655000	0.94253	CCG		0.428	TCTN3-009	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000471858.1	NM_015631		3	42	0	0	0	1	0	3	42				
CCDC171	203238	broad.mit.edu	37	9	15623319	15623319	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr9:15623319G>C	ENST00000380701.3	+	7	1058	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	CCDC171_ENST00000535968.1_Missense_Mutation_p.E244Q|CCDC171_ENST00000297641.3_Missense_Mutation_p.E244Q	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	244	Glu-rich.																ATTAGAAACAGAACATATGGA	0.348																																						ENST00000380701.3																			0											c.(730-732)Gaa>Caa		coiled-coil domain containing 171							145.0	149.0	148.0					9																	15623319		2203	4300	6503	SO:0001583	missense	203238							g.chr9:15623319G>C	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.730G>C	9.37:g.15623319G>C	ENSP00000370077:p.Glu244Gln					CCDC171_ENST00000535968.1_Missense_Mutation_p.E244Q|CCDC171_ENST00000297641.3_Missense_Mutation_p.E244Q	p.E244Q	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			7	1058	+			244			Glu-rich.		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.730G>C	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534723	0.64972	.	.	ENSG00000164989	ENST00000535968;ENST00000297641;ENST00000380701	T;T;T	0.41065	1.01;2.14;2.14	5.4	4.49	0.54785	.	0.102132	0.64402	D	0.000004	T	0.46560	0.1399	L	0.32530	0.975	0.33394	D	0.576538	D;D;D;D	0.89917	0.982;0.965;0.982;1.0	P;P;P;D	0.79108	0.832;0.832;0.832;0.992	T	0.39800	-0.9596	10	0.10377	T	0.69	-16.9926	11.0348	0.47793	0.0884:0.0:0.9116:0.0	.	244;244;244;244	B7ZM22;Q6TFL3-3;Q6TFL3;Q7Z3F8	.;.;CI093_HUMAN;.	Q	244	ENSP00000438838:E244Q;ENSP00000297641:E244Q;ENSP00000370077:E244Q	ENSP00000297641:E244Q	E	+	1	0	C9orf93	15613319	0.999000	0.42202	0.991000	0.47740	0.991000	0.79684	3.755000	0.55197	2.690000	0.91761	0.557000	0.71058	GAA		0.348	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		5	131	0	0	0	1	0	5	131				
C6	729	broad.mit.edu	37	5	41159280	41159280	+	Missense_Mutation	SNP	C	C	A	rs207465951		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr5:41159280C>A	ENST00000263413.3	-	12	2024	c.1760G>T	c.(1759-1761)cGa>cTa	p.R587L	C6_ENST00000337836.5_Missense_Mutation_p.R587L|C6_ENST00000475349.1_5'Flank	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	587	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATTGCATTCTCGGGTTCTCGA	0.493																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1759-1761)cGa>cTa		complement component 6							100.0	106.0	104.0					5																	41159280		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41159280C>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1760G>T	5.37:g.41159280C>A	ENSP00000263413:p.Arg587Leu					C6_ENST00000337836.5_Missense_Mutation_p.R587L	p.R587L	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			12	2024	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	587			TSP type-1 3.			Missense_Mutation	SNP	ENST00000263413.3	37	c.1760G>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936598	0.73442	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.24538	1.85;1.85	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.71031	0.3292	H	0.98936	4.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83117	-0.0120	10	0.87932	D	0	-15.5176	19.6592	0.95857	0.0:1.0:0.0:0.0	.	587	P13671	CO6_HUMAN	L	587	ENSP00000338861:R587L;ENSP00000263413:R587L	ENSP00000263413:R587L	R	-	2	0	C6	41195037	1.000000	0.71417	0.873000	0.34254	0.043000	0.13939	6.817000	0.75252	2.879000	0.98667	0.650000	0.86243	CGA		0.493	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			16	144	1	0	4.96729e-08	1	5.30292e-08	16	144				
OR5P3	120066	broad.mit.edu	37	11	7846689	7846689	+	Missense_Mutation	SNP	G	G	C	rs450205	byFrequency	TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr11:7846689G>C	ENST00000328375.1	-	1	830	c.831C>G	c.(829-831)ttC>ttG	p.F277L	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCACGGTGTAGAACACAGACA	0.458																																						ENST00000328375.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15						c.(829-831)ttC>ttG		olfactory receptor, family 5, subfamily P, member 3							111.0	102.0	105.0					11																	7846689		2189	4296	6485	SO:0001583	missense	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7846689G>C	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"""GPCR / Class A : Olfactory receptors"""	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.831C>G	11.37:g.7846689G>C	ENSP00000332068:p.Phe277Leu					RP11-35J10.5_ENST00000527565.1_lincRNA	p.F277L	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	830	-			277					Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	37	c.831C>G	CCDS7783.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471652	0.26423	.	.	ENSG00000182334	ENST00000328375	T	0.00032	8.88	4.67	0.678	0.17969	GPCR, rhodopsin-like superfamily (1);	0.484245	0.17661	N	0.166308	T	0.00178	0.0005	L	0.51422	1.61	0.29482	N	0.856261	B	0.26512	0.151	B	0.36766	0.232	T	0.15321	-1.0441	10	0.72032	D	0.01	-23.3142	4.4423	0.11580	0.3651:0.158:0.477:0.0	.	277	Q8WZ94	OR5P3_HUMAN	L	277	ENSP00000332068:F277L	ENSP00000332068:F277L	F	-	3	2	OR5P3	7803265	0.025000	0.19082	0.961000	0.40146	0.283000	0.27025	-0.820000	0.04457	-0.027000	0.13873	-0.145000	0.13849	TTC		0.458	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		16	90	0	0	0	1	0	16	90				
THAP4	51078	broad.mit.edu	37	2	242572369	242572369	+	Silent	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr2:242572369G>A	ENST00000407315.1	-	2	1634	c.1203C>T	c.(1201-1203)agC>agT	p.S401S		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	401							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GATAGGGGACGCTCACTCTCC	0.622																																						ENST00000407315.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(1201-1203)agC>agT		THAP domain containing 4							45.0	43.0	44.0					2																	242572369		2203	4296	6499	SO:0001819	synonymous_variant	51078						DNA binding|metal ion binding	g.chr2:242572369G>A	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.1203C>T	2.37:g.242572369G>A							p.S401S	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	1634	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	401					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	ENST00000407315.1	37	c.1203C>T	CCDS2551.1																																																																																				0.622	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		7	23	0	0	0	1	0	7	23				
GCAT	23464	broad.mit.edu	37	22	38211742	38211742	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr22:38211742A>G	ENST00000248924.6	+	7	943	c.887A>G	c.(886-888)aAc>aGc	p.N296S	GCAT_ENST00000323205.6_Missense_Mutation_p.N322S	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	296	Pyridoxal phosphate binding; shared with dimeric partner. {ECO:0000250}.				biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	CTCTTCTCCAACAGTCTGCCA	0.637																																						ENST00000323205.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12						c.(964-966)aAc>aGc		glycine C-acetyltransferase	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						98.0	106.0	104.0					22																	38211742		2203	4300	6503	SO:0001583	missense	23464				biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr22:38211742A>G	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.887A>G	22.37:g.38211742A>G	ENSP00000248924:p.Asn296Ser					GCAT_ENST00000248924.6_Missense_Mutation_p.N296S	p.N322S	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN			7	1028	+	Melanoma(58;0.045)		296					E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	ENST00000248924.6	37	c.965A>G	CCDS13957.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.471528	0.84533	.	.	ENSG00000100116	ENST00000323205;ENST00000248924	D;D	0.89050	-2.46;-2.46	4.72	4.72	0.59763	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.93468	0.7916	M	0.70903	2.155	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.966	D	0.94239	0.7483	10	0.87932	D	0	-29.348	14.3637	0.66789	1.0:0.0:0.0:0.0	.	322;296	E2QC23;O75600	.;KBL_HUMAN	S	322;296	ENSP00000371110:N322S;ENSP00000248924:N296S	ENSP00000248924:N296S	N	+	2	0	GCAT	36541688	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.437000	0.90302	1.987000	0.57996	0.459000	0.35465	AAC		0.637	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		32	189	0	0	0	1	0	32	189				
ZNF789	285989	broad.mit.edu	37	7	99084299	99084299	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr7:99084299C>G	ENST00000331410.5	+	5	736	c.466C>G	c.(466-468)Caa>Gaa	p.Q156E	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	156					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)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGGCTTCCTTCAAAACCTTAA	0.403																																						ENST00000331410.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(466-468)Caa>Gaa		zinc finger protein 789							91.0	89.0	89.0					7																	99084299		2203	4300	6503	SO:0001583	missense	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084299C>G	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.466C>G	7.37:g.99084299C>G	ENSP00000331927:p.Gln156Glu					ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000448667.1_3'UTR	p.Q156E	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN			5	736	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		156					A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.466C>G	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629142	0.46944	.	.	ENSG00000198556	ENST00000331410	T	0.15952	2.38	3.22	0.986	0.19784	.	.	.	.	.	T	0.17492	0.0420	M	0.74881	2.28	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.04991	-1.0913	9	0.42905	T	0.14	.	5.3752	0.16162	0.0:0.4116:0.4596:0.1288	.	156	Q5FWF6	ZN789_HUMAN	E	156	ENSP00000331927:Q156E	ENSP00000331927:Q156E	Q	+	1	0	ZNF789	98922235	0.000000	0.05858	0.940000	0.37924	0.681000	0.39784	0.510000	0.22723	0.600000	0.29862	0.650000	0.86243	CAA		0.403	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		19	89	0	0	0	1	0	19	89				
TARBP1	6894	broad.mit.edu	37	1	234529144	234529144	+	Silent	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:234529144G>A	ENST00000040877.1	-	28	4523	c.4524C>T	c.(4522-4524)ctC>ctT	p.L1508L	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1508					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CAGAGACACTGAGGTGCTGAA	0.483																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(4522-4524)ctC>ctT		TAR (HIV-1) RNA binding protein 1							105.0	95.0	98.0					1																	234529144		2203	4300	6503	SO:0001819	synonymous_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234529144G>A		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4524C>T	1.37:g.234529144G>A						TARBP1_ENST00000483404.1_5'UTR	p.L1508L	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		28	4523	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1508					Q9H581	Silent	SNP	ENST00000040877.1	37	c.4524C>T	CCDS1601.1																																																																																				0.483	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		5	41	0	0	0	1	0	5	41				
MAP3K15	389840	broad.mit.edu	37	X	19410511	19410511	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chrX:19410511C>G	ENST00000338883.4	-	17	2274	c.2275G>C	c.(2275-2277)Gag>Cag	p.E759Q	MAP3K15_ENST00000469203.2_Missense_Mutation_p.E591Q|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.E194Q	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	759	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TTAAGGCCCTCCAGGATCTGT	0.453																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2275-2277)Gag>Cag		mitogen-activated protein kinase kinase kinase 15							200.0	167.0	178.0					X																	19410511		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19410511C>G	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2275G>C	X.37:g.19410511C>G	ENSP00000345629:p.Glu759Gln					MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.E591Q|MAP3K15_ENST00000359173.3_Missense_Mutation_p.E194Q	p.E759Q	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			17	2274	-	Hepatocellular(33;0.183)		759			Protein kinase.		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.2275G>C		.	.	.	.	.	.	.	.	.	.	C	14.47	2.544946	0.45280	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.66280	-0.2;-0.2;-0.2	5.25	4.39	0.52855	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	0.45094	0.1325	N	0.26042	0.785	0.58432	D	0.999998	B;P	0.36330	0.452;0.548	B;B	0.29267	0.079;0.1	T	0.35943	-0.9768	10	0.30854	T	0.27	.	13.2207	0.59885	0.0:0.9207:0.0:0.0793	.	234;759	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	Q	759;194;591	ENSP00000345629:E759Q;ENSP00000352093:E194Q;ENSP00000428356:E591Q	ENSP00000345629:E759Q	E	-	1	0	MAP3K15	19320432	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.736000	0.68597	1.109000	0.41680	0.513000	0.50165	GAG		0.453	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		50	137	0	0	0	1	0	50	137				
DHX15	1665	broad.mit.edu	37	4	24578255	24578255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr4:24578255G>A	ENST00000336812.4	-	2	274	c.118C>T	c.(118-120)Cga>Tga	p.R40*		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	40					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TCTCGGTCTCGATCTTTAGAC	0.433																																						ENST00000336812.4																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(118-120)Cga>Tga		DEAH (Asp-Glu-Ala-His) box helicase 15							135.0	118.0	124.0					4																	24578255		2203	4300	6503	SO:0001587	stop_gained	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24578255G>A	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.118C>T	4.37:g.24578255G>A	ENSP00000336741:p.Arg40*						p.R40*	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN			2	274	-		Breast(46;0.0503)	40					Q9NQT7	Nonsense_Mutation	SNP	ENST00000336812.4	37	c.118C>T	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	G	33	5.252571	0.95336	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	.	.	.	5.59	4.74	0.60224	.	0.077379	0.49916	D	0.000133	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8962	14.6282	0.68638	0.0715:0.0:0.9285:0.0	.	.	.	.	X	40;29	.	ENSP00000336741:R40X	R	-	1	2	DHX15	24187353	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.175000	0.50855	2.648000	0.89879	0.650000	0.86243	CGA		0.433	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		26	40	0	0	0	1	0	26	40				
TAF2	6873	broad.mit.edu	37	8	120774829	120774829	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr8:120774829C>T	ENST00000378164.2	-	19	2682	c.2384G>A	c.(2383-2385)cGt>cAt	p.R795H	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	795					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATTTCTGCACGATAATAGTT	0.323																																						ENST00000378164.2																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(2383-2385)cGt>cAt		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							41.0	39.0	40.0					8																	120774829		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120774829C>T	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2384G>A	8.37:g.120774829C>T	ENSP00000367406:p.Arg795His					TAF2_ENST00000519355.1_5'UTR	p.R795H	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		19	2682	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		795					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.2384G>A	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	C	32	5.192744	0.94960	.	.	ENSG00000064313	ENST00000378164	T	0.46819	0.86	5.27	5.27	0.74061	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66307	0.2776	M	0.83118	2.625	0.80722	D	1	D	0.63880	0.993	P	0.53593	0.73	T	0.73075	-0.4097	10	0.72032	D	0.01	-17.7329	18.8818	0.92358	0.0:1.0:0.0:0.0	.	795	Q6P1X5	TAF2_HUMAN	H	795	ENSP00000367406:R795H	ENSP00000367406:R795H	R	-	2	0	TAF2	120844010	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.797000	0.85911	2.469000	0.83416	0.460000	0.39030	CGT		0.323	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		11	72	0	0	0	1	0	11	72				
ELAVL1	1994	broad.mit.edu	37	19	8028517	8028517	+	Silent	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr19:8028517G>A	ENST00000407627.2	-	6	960	c.831C>T	c.(829-831)cgC>cgT	p.R277R	ELAVL1_ENST00000593807.1_3'UTR|ELAVL1_ENST00000596459.1_Silent_p.R277R|ELAVL1_ENST00000351593.5_Silent_p.R304R	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	277	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGTTGAAGTCGCGGATCACTT	0.547																																						ENST00000407627.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(829-831)cgC>cgT		ELAV like RNA binding protein 1							144.0	127.0	133.0					19																	8028517		2203	4300	6503	SO:0001819	synonymous_variant	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8028517G>A	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.831C>T	19.37:g.8028517G>A						ELAVL1_ENST00000596459.1_Silent_p.R277R|ELAVL1_ENST00000593807.1_3'UTR|ELAVL1_ENST00000351593.5_Silent_p.R304R	p.R277R	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN			6	960	-			277			RRM 3.		B4DVB8|Q53XN6|Q9BTT1	Silent	SNP	ENST00000407627.2	37	c.831C>T	CCDS12193.1																																																																																				0.547	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		81	99	0	0	0	1	0	81	99				
LYST	1130	broad.mit.edu	37	1	235993528	235993528	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:235993528G>A	ENST00000389794.3	-	3	364	c.190C>T	c.(190-192)Cag>Tag	p.Q64*	LYST_ENST00000389793.2_Nonsense_Mutation_p.Q64*|LYST_ENST00000536965.1_Nonsense_Mutation_p.Q64*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	64					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AATGTTACCTGATCAATTATA	0.373																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(190-192)Cag>Tag		lysosomal trafficking regulator							61.0	63.0	62.0					1																	235993528		2203	4300	6503	SO:0001587	stop_gained	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235993528G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.190C>T	1.37:g.235993528G>A	ENSP00000374444:p.Gln64*					LYST_ENST00000536965.1_Nonsense_Mutation_p.Q64*|LYST_ENST00000389793.2_Nonsense_Mutation_p.Q64*	p.Q64*			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		3	364	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	64					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	ENST00000389794.3	37	c.190C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265901	0.80358	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	19.8426	0.96695	0.0:0.0:1.0:0.0	.	.	.	.	X	64	.	ENSP00000374443:Q64X	Q	-	1	0	LYST	234060151	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	9.352000	0.97076	2.686000	0.91538	0.585000	0.79938	CAG		0.373	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			16	46	0	0	0	1	0	16	46				
PCLO	27445	broad.mit.edu	37	7	82584223	82584223	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr7:82584223C>G	ENST00000333891.9	-	5	6383	c.6046G>C	c.(6046-6048)Gag>Cag	p.E2016Q	PCLO_ENST00000423517.2_Missense_Mutation_p.E2016Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTTCTAACTCATAAAACTCT	0.378																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(6046-6048)Gag>Cag		piccolo presynaptic cytomatrix protein							78.0	80.0	79.0					7																	82584223		1818	4073	5891	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584223C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6046G>C	7.37:g.82584223C>G	ENSP00000334319:p.Glu2016Gln					PCLO_ENST00000333891.8_Missense_Mutation_p.E2016Q	p.E2016Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	6383	-			1947						Missense_Mutation	SNP	ENST00000333891.9	37	c.6046G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	6.510	0.462259	0.12342	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17854	2.25;2.26	5.77	4.88	0.63580	.	.	.	.	.	T	0.13030	0.0316	L	0.36672	1.1	0.58432	D	0.999998	B;B	0.16802	0.019;0.019	B;B	0.12156	0.007;0.007	T	0.08868	-1.0701	9	0.87932	D	0	.	5.1586	0.15048	0.0:0.6358:0.1876:0.1766	.	2016;2016	Q9Y6V0-5;Q9Y6V0-6	.;.	Q	1947;2016;2016	ENSP00000334319:E2016Q;ENSP00000388393:E2016Q	ENSP00000334319:E2016Q	E	-	1	0	PCLO	82422159	0.950000	0.32346	0.999000	0.59377	0.971000	0.66376	0.992000	0.29667	1.405000	0.46838	0.655000	0.94253	GAG		0.378	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		33	110	0	0	0	1	0	33	110				
DNMBP	23268	broad.mit.edu	37	10	101716803	101716803	+	Missense_Mutation	SNP	G	G	A	rs371156348		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr10:101716803G>A	ENST00000324109.4	-	4	519	c.428C>T	c.(427-429)cCg>cTg	p.P143L	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.P143L	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	143					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGAATATTCCGGAATCTGAAA	0.582																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(427-429)cCg>cTg		dynamin binding protein			LEU/PRO	0,4406		0,0,2203	32.0	35.0	34.0		428	5.5	0.9	10		34	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNMBP	NM_015221.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	143/1578	101716803	1,13005	2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101716803G>A	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.428C>T	10.37:g.101716803G>A	ENSP00000315659:p.Pro143Leu					DNMBP_ENST00000324109.4_Missense_Mutation_p.P143L|DNMBP-AS1_ENST00000434409.1_RNA	p.P143L			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	519	-		Colorectal(252;0.234)	143					Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.428C>T	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597629	0.87055	0.0	1.16E-4	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.31769	1.48;1.48	5.47	5.47	0.80525	Src homology-3 domain (1);	0.000000	0.50627	D	0.000101	T	0.48095	0.1481	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.45205	-0.9277	10	0.66056	D	0.02	-16.2976	19.7017	0.96057	0.0:0.0:1.0:0.0	.	143	Q6XZF7	DNMBP_HUMAN	L	143	ENSP00000344914:P143L;ENSP00000315659:P143L	ENSP00000315659:P143L	P	-	2	0	DNMBP	101706793	1.000000	0.71417	0.939000	0.37840	0.972000	0.66771	7.247000	0.78257	2.724000	0.93272	0.561000	0.74099	CCG		0.582	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		13	55	0	0	0	1	0	13	55				
GLYR1	84656	broad.mit.edu	37	16	4881985	4881985	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:4881985C>T	ENST00000321919.9	-	5	608	c.532G>A	c.(532-534)Gag>Aag	p.E178K	GLYR1_ENST00000591451.1_Missense_Mutation_p.E178K|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000436648.5_Intron|GLYR1_ENST00000381983.3_Missense_Mutation_p.E178K	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	178					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CAAACCTTCTCATCCTTTGGG	0.488																																						ENST00000321919.9																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(532-534)Gag>Aag		glyoxylate reductase 1 homolog (Arabidopsis)							40.0	43.0	42.0					16																	4881985		2197	4300	6497	SO:0001583	missense	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4881985C>T	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.532G>A	16.37:g.4881985C>T	ENSP00000322716:p.Glu178Lys					GLYR1_ENST00000381983.3_Missense_Mutation_p.E178K|GLYR1_ENST00000436648.5_Intron|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000591451.1_Missense_Mutation_p.E178K	p.E178K	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN			5	608	-			178					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	37	c.532G>A	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547474	0.65311	.	.	ENSG00000140632	ENST00000321919;ENST00000381983	T;T	0.64618	-0.1;-0.11	5.29	5.29	0.74685	AT hook, DNA-binding motif (1);	0.051397	0.85682	D	0.000000	T	0.44030	0.1274	N	0.19112	0.55	0.58432	D	0.999999	P;B;P	0.37781	0.557;0.149;0.608	B;B;B	0.30646	0.118;0.118;0.074	T	0.41052	-0.9530	10	0.12430	T	0.62	-27.6893	18.0706	0.89405	0.0:1.0:0.0:0.0	.	178;178;178	Q49A26-3;Q49A26-2;Q49A26	.;.;GLYR1_HUMAN	K	178	ENSP00000322716:E178K;ENSP00000371413:E178K	ENSP00000322716:E178K	E	-	1	0	GLYR1	4821986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.356000	0.66052	2.634000	0.89283	0.650000	0.86243	GAG		0.488	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		14	57	0	0	0	1	0	14	57				
SESN3	143686	broad.mit.edu	37	11	94911876	94911876	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr11:94911876G>C	ENST00000536441.1	-	7	1390	c.1054C>G	c.(1054-1056)Cag>Gag	p.Q352E	RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.Q213E	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	352					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TATTATACCTGAGCTCGGAAT	0.338																																						ENST00000536441.1																			0				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16						c.(1054-1056)Cag>Gag		sestrin 3							90.0	87.0	88.0					11																	94911876		2201	4298	6499	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94911876G>C	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.1054C>G	11.37:g.94911876G>C	ENSP00000441927:p.Gln352Glu					RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.Q213E|RP11-712B9.2_ENST00000534891.1_RNA	p.Q352E	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	7	1390	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	352					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.1054C>G	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946037	0.73672	.	.	ENSG00000149212	ENST00000536441;ENST00000278499	T;T	0.25250	1.81;1.81	5.68	5.68	0.88126	.	0.133820	0.51477	D	0.000096	T	0.39655	0.1086	M	0.80616	2.505	0.80722	D	1	B;B	0.33807	0.258;0.426	B;B	0.36378	0.142;0.223	T	0.31336	-0.9947	10	0.52906	T	0.07	-3.8775	20.1615	0.98135	0.0:0.0:1.0:0.0	.	213;352	B7Z7P9;P58005	.;SESN3_HUMAN	E	352;213	ENSP00000441927:Q352E;ENSP00000278499:Q213E	ENSP00000278499:Q213E	Q	-	1	0	SESN3	94551524	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.890000	0.92477	2.835000	0.97688	0.650000	0.86243	CAG		0.338	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		14	53	0	0	0	1	0	14	53				
CCAR1	55749	broad.mit.edu	37	10	70516064	70516064	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr10:70516064G>C	ENST00000265872.6	+	14	1779	c.1660G>C	c.(1660-1662)Gag>Cag	p.E554Q	SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000535016.1_Missense_Mutation_p.E539Q|CCAR1_ENST00000543719.1_Missense_Mutation_p.E539Q|CCAR1_ENST00000483264.1_3'UTR	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	554					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CCATCGCCCTGAGGAGACCCA	0.473																																						ENST00000265872.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(1660-1662)Gag>Cag		cell division cycle and apoptosis regulator 1							126.0	124.0	125.0					10																	70516064		2203	4300	6503	SO:0001583	missense	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70516064G>C	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1660G>C	10.37:g.70516064G>C	ENSP00000265872:p.Glu554Gln					CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000535016.1_Missense_Mutation_p.E539Q|CCAR1_ENST00000543719.1_Missense_Mutation_p.E539Q	p.E554Q	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			14	1779	+			554					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	c.1660G>C	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578522	0.46006	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.38	5.38	0.77491	.	0.052147	0.85682	D	0.000000	T	0.67449	0.2894	M	0.64997	1.995	0.80722	D	1	D;D;B	0.69078	0.996;0.997;0.225	D;D;B	0.81914	0.986;0.995;0.221	T	0.66598	-0.5883	10	0.46703	T	0.11	-9.8417	19.1212	0.93364	0.0:0.0:1.0:0.0	.	539;554;528	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	Q	554;539;539;539;528;359	ENSP00000265872:E554Q;ENSP00000441820:E539Q;ENSP00000445254:E539Q;ENSP00000439252:E539Q;ENSP00000438610:E528Q;ENSP00000439642:E359Q	ENSP00000265872:E554Q	E	+	1	0	CCAR1	70186070	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.747000	0.98863	2.533000	0.85409	0.585000	0.79938	GAG		0.473	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		4	67	0	0	0	1	0	4	67				
GRAMD1C	54762	broad.mit.edu	37	3	113623085	113623085	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr3:113623085A>G	ENST00000358160.4	+	8	1247	c.755A>G	c.(754-756)gAa>gGa	p.E252G	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.E47G|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.E85G	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	252						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						CGGGTTTCAGAAACAGAGTCA	0.363																																						ENST00000358160.4																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						c.(754-756)gAa>gGa		GRAM domain containing 1C							79.0	85.0	83.0					3																	113623085		2203	4300	6503	SO:0001583	missense	54762					integral to membrane		g.chr3:113623085A>G		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.755A>G	3.37:g.113623085A>G	ENSP00000350881:p.Glu252Gly					GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.E85G|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.E47G|GRAMD1C_ENST00000479212.1_3'UTR	p.E252G	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN			8	1247	+			252					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.755A>G	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739421	0.49045	.	.	ENSG00000178075	ENST00000358160;ENST00000472026;ENST00000462838;ENST00000440446	T;T;T	0.51071	1.42;0.83;0.72	5.72	5.72	0.89469	.	1.652940	0.03658	N	0.242090	T	0.55800	0.1943	M	0.77103	2.36	0.80722	D	1	B;B	0.33266	0.404;0.355	B;B	0.32583	0.148;0.057	T	0.43032	-0.9416	10	0.31617	T	0.26	.	12.4002	0.55407	1.0:0.0:0.0:0.0	.	85;252	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	G	252;85;47;47	ENSP00000350881:E252G;ENSP00000419132:E85G;ENSP00000408135:E47G	ENSP00000350881:E252G	E	+	2	0	GRAMD1C	115105775	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	3.333000	0.52090	2.180000	0.69256	0.460000	0.39030	GAA		0.363	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		22	69	0	0	0	1	0	22	69				
ANKS3	124401	broad.mit.edu	37	16	4755233	4755233	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:4755233G>C	ENST00000304283.4	-	8	1025	c.731C>G	c.(730-732)tCt>tGt	p.S244C	ANKS3_ENST00000450067.2_Missense_Mutation_p.S38C|ANKS3_ENST00000585773.1_Missense_Mutation_p.S171C|ANKS3_ENST00000446014.2_Missense_Mutation_p.S115C	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	244										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CTCGTCAGAAGAGCTCAGATC	0.502																																						ENST00000304283.4																			0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(730-732)tCt>tGt		ankyrin repeat and sterile alpha motif domain containing 3							73.0	67.0	69.0					16																	4755233		2197	4300	6497	SO:0001583	missense	124401							g.chr16:4755233G>C	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.731C>G	16.37:g.4755233G>C	ENSP00000304586:p.Ser244Cys					ANKS3_ENST00000585773.1_Missense_Mutation_p.S171C|ANKS3_ENST00000450067.2_Missense_Mutation_p.S38C|ANKS3_ENST00000446014.2_Missense_Mutation_p.S115C	p.S244C	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN			8	1025	-			244					B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.731C>G	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317074	0.60524	.	.	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.65549	1.08;2.79;-0.16	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.80232	0.4585	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.81328	-0.0982	10	0.72032	D	0.01	-17.9973	18.8901	0.92397	0.0:0.0:1.0:0.0	.	38;244	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	C	244;115;38	ENSP00000304586:S244C;ENSP00000406796:S115C;ENSP00000388270:S38C	ENSP00000304586:S244C	S	-	2	0	ANKS3	4695234	1.000000	0.71417	0.985000	0.45067	0.030000	0.12068	8.620000	0.90943	2.706000	0.92434	0.563000	0.77884	TCT		0.502	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		18	64	0	0	0	1	0	18	64				
CES5A	221223	broad.mit.edu	37	16	55883641	55883641	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:55883641G>C	ENST00000290567.9	-	11	1439	c.1318C>G	c.(1318-1320)Cag>Gag	p.Q440E	CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000521992.1_Missense_Mutation_p.Q469E|CES5A_ENST00000518005.1_Missense_Mutation_p.Q334E|CES5A_ENST00000319165.9_Intron|CES5A_ENST00000520435.1_Missense_Mutation_p.Q410E	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	440						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.Q469K(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCAAAGCACTGAGGCCGGTGC	0.557																																						ENST00000521992.1																			1	Substitution - Missense(1)	p.Q469K(1)	lung(1)	breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(1405-1407)Cag>Gag		carboxylesterase 5A							98.0	85.0	89.0					16																	55883641		1568	3582	5150	SO:0001583	missense	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55883641G>C	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1318C>G	16.37:g.55883641G>C	ENSP00000290567:p.Gln440Glu					CES5A_ENST00000518005.1_Missense_Mutation_p.Q334E|CES5A_ENST00000520435.1_Missense_Mutation_p.Q410E|CES5A_ENST00000290567.9_Missense_Mutation_p.Q440E|CES5A_ENST00000319165.9_Intron|CES5A_ENST00000541580.1_5'UTR	p.Q469E	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN			12	1550	-			440					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	c.1405C>G	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	.	6.959	0.546901	0.13312	.	.	ENSG00000159398	ENST00000521992;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	4.37	2.33	0.28932	Carboxylesterase, type B (1);	1.777950	0.03010	N	0.149287	T	0.06234	0.0161	N	0.10782	0.045	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.31916	-0.9926	10	0.62326	D	0.03	.	6.5346	0.22346	0.0959:0.3602:0.5439:0.0	.	440	Q6NT32	EST5A_HUMAN	E	469;334;440;410;220	ENSP00000428864:Q469E;ENSP00000428571:Q334E;ENSP00000290567:Q440E;ENSP00000428887:Q410E	ENSP00000290567:Q440E	Q	-	1	0	CES5A	54441142	0.000000	0.05858	0.048000	0.18961	0.446000	0.32137	0.164000	0.16542	0.738000	0.32606	0.462000	0.41574	CAG		0.557	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		36	67	0	0	0	1	0	36	67				
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	C	T	rs77504727		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:32725567C>T	ENST00000437316.2	-	4	803	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.R247H|HLA-DQB2_ENST00000411527.1_Intron			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	251					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(739-741)cGt>cAt		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725567C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.740G>A	6.37:g.32725567C>T	ENSP00000396330:p.Arg247His					HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H|HLA-DQB2_ENST00000411527.1_Intron	p.R247H			Q5SR06	Q5SR06_HUMAN			4	801	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.740G>A		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.431383	0.00184	.	.	ENSG00000232629	ENST00000437316;ENST00000435145	T;T	0.00625	6.17;6.14	3.25	-3.63	0.04529	.	0.752796	0.12134	N	0.496536	T	0.00210	0.0006	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.25502	-1.0130	9	0.41790	T	0.15	.	9.6955	0.40154	0.0:0.4123:0.0:0.5877	rs34134876	247	A2ADX3	.	H	247	ENSP00000396330:R247H;ENSP00000410512:R247H	ENSP00000410512:R247H	R	-	2	0	HLA-DQB2	32833545	0.000000	0.05858	0.008000	0.14137	0.015000	0.08874	-1.557000	0.02166	-0.833000	0.04245	-1.855000	0.00564	CGT		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			7	35	0	0	0	1	0	7	35				
KRTAP5-2	440021	broad.mit.edu	37	11	1619301	1619301	+	Silent	SNP	G	G	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr11:1619301G>C	ENST00000412090.1	-	1	223	c.180C>G	c.(178-180)gtC>gtG	p.V60V	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	60						keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCAGCAGCAGACAGGCACAT	0.687																																						ENST00000412090.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(178-180)gtC>gtG		keratin associated protein 5-2							64.0	78.0	73.0					11																	1619301		2202	4299	6501	SO:0001819	synonymous_variant	440021					keratin filament		g.chr11:1619301G>C	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.180C>G	11.37:g.1619301G>C						KRTAP5-AS1_ENST00000424148.1_RNA	p.V60V	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	223	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	60					A9JTZ1	Silent	SNP	ENST00000412090.1	37	c.180C>G	CCDS31331.1																																																																																				0.687	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		6	270	0	0	0	1	0	6	270				
ULBP2	80328	broad.mit.edu	37	6	150267599	150267599	+	Silent	SNP	C	C	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:150267599C>A	ENST00000367351.3	+	3	514	c.441C>A	c.(439-441)atC>atA	p.I147I		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	147	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615)	natural killer cell lectin-like receptor binding (GO:0046703)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		ATGGGCAGATCTTCCTCCTCT	0.507																																						ENST00000367351.3																			0				breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10						c.(439-441)atC>atA		UL16 binding protein 2							254.0	228.0	237.0					6																	150267599		2203	4300	6503	SO:0001819	synonymous_variant	80328				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity	g.chr6:150267599C>A	AF304378	CCDS5222.1	6q25	2008-04-11			ENSG00000131015	ENSG00000131015			14894	protein-coding gene	gene with protein product		605698				11239445	Standard	NM_025217		Approved	RAET1H	uc003qno.3	Q9BZM5	OTTHUMG00000015803	ENST00000367351.3:c.441C>A	6.37:g.150267599C>A							p.I147I	NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	3	514	+		Ovarian(120;0.0907)	147			MHC class I alpha-2 like.		Q5VUN4	Silent	SNP	ENST00000367351.3	37	c.441C>A	CCDS5222.1																																																																																				0.507	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042669.1			8	239	1	0	5.18039e-06	1	5.38488e-06	8	239				
NCOA6	23054	broad.mit.edu	37	20	33328669	33328669	+	Silent	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr20:33328669C>T	ENST00000374796.2	-	12	7961	c.5391G>A	c.(5389-5391)ttG>ttA	p.L1797L	NCOA6_ENST00000359003.2_Silent_p.L1797L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1797	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GACTATTGGTCAAAAGGGGAG	0.488																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(5389-5391)ttG>ttA		nuclear receptor coactivator 6							80.0	78.0	79.0					20																	33328669		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33328669C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5391G>A	20.37:g.33328669C>T						NCOA6_ENST00000359003.2_Silent_p.L1797L	p.L1797L			Q14686	NCOA6_HUMAN			12	7961	-			1797			EP300/CRSP3-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.5391G>A	CCDS13241.1																																																																																				0.488	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		18	105	0	0	0	1	0	18	105				
ANKRD20A11P	391267	broad.mit.edu	37	21	15352138	15352138	+	RNA	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr21:15352138G>A	ENST00000344693.5	-	0	620					NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TCCGAGTACCGGATTCGGTAC	0.627																																						ENST00000344693.5																			0																																																			391267							g.chr21:15352138G>A			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15352138G>A								NR_027270.1						0	620	-									RNA	SNP	ENST00000344693.5	37																																																																																						0.627	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			7	21	0	0	0	1	0	7	21				
MTHFR	4524	broad.mit.edu	37	1	11856353	11856353	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:11856353G>T	ENST00000376592.1	-	4	818	c.690C>A	c.(688-690)ttC>ttA	p.F230L	MTHFR_ENST00000376590.3_Missense_Mutation_p.F230L|MTHFR_ENST00000376583.3_Missense_Mutation_p.F271L|MTHFR_ENST00000376585.1_Missense_Mutation_p.F271L			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	230					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	CAGCCTCAAAGAAAAGCTGCG	0.572																																						ENST00000376592.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(688-690)ttC>ttA		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						229.0	207.0	214.0					1																	11856353		2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11856353G>T	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.690C>A	1.37:g.11856353G>T	ENSP00000365777:p.Phe230Leu					MTHFR_ENST00000376583.3_Missense_Mutation_p.F271L|MTHFR_ENST00000376590.3_Missense_Mutation_p.F230L|MTHFR_ENST00000376585.1_Missense_Mutation_p.F271L	p.F230L			P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	4	818	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	230					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.690C>A	CCDS137.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174701	0.78452	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.97776	0.9270	H	0.95780	3.72	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.78314	0.991;0.942	D	0.98994	1.0809	10	0.87932	D	0	.	17.8427	0.88719	0.0:0.0:1.0:0.0	.	230;271	P42898;Q5SNW6	MTHR_HUMAN;.	L	230;271;230;271	ENSP00000365777:F230L;ENSP00000365767:F271L;ENSP00000365775:F230L;ENSP00000365770:F271L	ENSP00000365767:F271L	F	-	3	2	MTHFR	11778940	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	5.727000	0.68523	2.514000	0.84764	0.655000	0.94253	TTC		0.572	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		114	261	1	0	2.55378e-55	1	2.90286e-55	114	261				
EPS15	2060	broad.mit.edu	37	1	51910602	51910602	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:51910602G>C	ENST00000371733.3	-	11	1009	c.913C>G	c.(913-915)Cct>Gct	p.P305A	EPS15_ENST00000371730.2_Missense_Mutation_p.P305A	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	305	EH 3. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				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?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ATCATTTCAGGAGTAAGAACG	0.393			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		1	Whole gene deletion(1)	p.0?(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.(913-915)Cct>Gct		epidermal growth factor receptor pathway substrate 15							183.0	170.0	175.0					1																	51910602		2203	4300	6503	SO:0001583	missense	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.chr1:51910602G>C	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.913C>G	1.37:g.51910602G>C	ENSP00000360798:p.Pro305Ala					EPS15_ENST00000371730.2_Missense_Mutation_p.P305A	p.P305A	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			11	1009	-			305			EH 3.		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.913C>G	CCDS557.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407046	0.42715	.	.	ENSG00000085832	ENST00000371730;ENST00000371733	T;T	0.27402	1.67;1.67	5.39	4.41	0.53225	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.273299	0.19708	N	0.107874	T	0.33147	0.0853	L	0.52905	1.665	0.80722	D	1	B;B	0.18461	0.028;0.011	B;B	0.20767	0.031;0.022	T	0.13899	-1.0492	10	0.48119	T	0.1	.	17.0627	0.86551	0.0:0.1936:0.8064:0.0	.	305;305	B1AUU8;P42566	.;EPS15_HUMAN	A	305	ENSP00000360795:P305A;ENSP00000360798:P305A	ENSP00000360795:P305A	P	-	1	0	EPS15	51683190	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.039000	0.41193	2.689000	0.91719	0.655000	0.94253	CCT		0.393	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		72	132	0	0	0	1	0	72	132				
PITPNM3	83394	broad.mit.edu	37	17	6373655	6373655	+	Silent	SNP	G	G	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr17:6373655G>T	ENST00000262483.8	-	13	1785	c.1698C>A	c.(1696-1698)ccC>ccA	p.P566P	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Silent_p.P530P	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	566	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GGGCCACGGTGGGGAAGGCCG	0.622																																						ENST00000262483.8																			0											c.(1696-1698)ccC>ccA									130.0	89.0	103.0					17																	6373655		2203	4300	6503	SO:0001819	synonymous_variant	83394							g.chr17:6373655G>T	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1698C>A	17.37:g.6373655G>T						ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Silent_p.P530P	p.P566P	NM_031220.3	NP_112497.2					13	1785	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	c.1698C>A	CCDS11076.1																																																																																				0.622	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		24	24	1	0	1.66031e-10	1	1.80916e-10	24	24				
OR52N4	390072	broad.mit.edu	37	11	5776386	5776386	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr11:5776386C>A	ENST00000317254.3	+	1	464	c.416C>A	c.(415-417)aCc>aAc	p.T139N	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		ACTATCCTCACCAATCCTGTA	0.507																																						ENST00000317254.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(415-417)aCc>aAc		olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)							150.0	149.0	149.0					11																	5776386		2200	4297	6497	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776386C>A	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.416C>A	11.37:g.5776386C>A	ENSP00000323224:p.Thr139Asn					TRIM5_ENST00000380027.1_Intron	p.T139N	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	464	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	139					B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.416C>A	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	C	7.338	0.620263	0.14193	.	.	ENSG00000181074	ENST00000317254	T	0.40756	1.02	5.97	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.127072	0.35320	N	0.003287	T	0.42988	0.1227	L	0.58925	1.835	0.21604	N	0.999622	B	0.30193	0.272	B	0.33339	0.162	T	0.42015	-0.9476	10	0.51188	T	0.08	.	13.7225	0.62737	0.0:0.926:0.0:0.074	.	139	Q8NGI2	O52N4_HUMAN	N	139	ENSP00000323224:T139N	ENSP00000323224:T139N	T	+	2	0	OR52N4	5732962	0.026000	0.19158	0.997000	0.53966	0.001000	0.01503	0.679000	0.25291	1.539000	0.49286	0.557000	0.71058	ACC		0.507	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		15	139	1	0	1.3612e-06	1	1.42431e-06	15	139				
ANKFN1	162282	broad.mit.edu	37	17	54535256	54535256	+	Silent	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr17:54535256G>A	ENST00000318698.2	+	13	1517	c.1482G>A	c.(1480-1482)ctG>ctA	p.L494L	ANKFN1_ENST00000566473.2_Silent_p.L494L	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	494										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TAAGGTGGCTGAGGCAAAGCA	0.478																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(1480-1482)ctG>ctA		ankyrin-repeat and fibronectin type III domain containing 1							172.0	141.0	151.0					17																	54535256		2203	4300	6503	SO:0001819	synonymous_variant	162282							g.chr17:54535256G>A	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1482G>A	17.37:g.54535256G>A						ANKFN1_ENST00000318698.2_Silent_p.L494L	p.L494L			Q8N957	ANKF1_HUMAN			13	1482	+			494						Silent	SNP	ENST00000318698.2	37	c.1482G>A	CCDS32686.1																																																																																				0.478	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		29	88	0	0	0	1	0	29	88				
ANKLE2	23141	broad.mit.edu	37	12	133312019	133312019	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr12:133312019G>A	ENST00000357997.5	-	9	1762	c.1673C>T	c.(1672-1674)cCg>cTg	p.P558L	ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000337516.5_Missense_Mutation_p.P558L|ANKLE2_ENST00000539605.1_Missense_Mutation_p.P496L	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	558					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.P558Q(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GCCTCTTTCCGGGTCCGACTT	0.478																																						ENST00000539605.1																			1	Substitution - Missense(1)	p.P558Q(1)	lung(1)	NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(1486-1488)cCg>cTg		ankyrin repeat and LEM domain containing 2							129.0	137.0	135.0					12																	133312019		2055	4209	6264	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133312019G>A	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1673C>T	12.37:g.133312019G>A	ENSP00000350686:p.Pro558Leu					ANKLE2_ENST00000357997.5_Missense_Mutation_p.P558L|ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000337516.5_Missense_Mutation_p.P558L	p.P496L			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	8	8171	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	558					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.1487C>T	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	g	11.13	1.548575	0.27652	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000535036	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.24	5.24	0.73138	.	0.101961	0.64402	D	0.000002	T	0.33323	0.0859	L	0.50919	1.6	0.80722	D	1	B;P	0.39964	0.351;0.697	B;B	0.26202	0.062;0.067	T	0.13202	-1.0518	10	0.21540	T	0.41	-7.1104	10.4422	0.44472	0.1215:0.0:0.8785:0.0	.	558;558	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	L	496;558;558;121	ENSP00000446268:P496L;ENSP00000350686:P558L;ENSP00000337651:P558L;ENSP00000437585:P121L	ENSP00000337651:P558L	P	-	2	0	ANKLE2	131822092	1.000000	0.71417	0.944000	0.38274	0.206000	0.24218	4.749000	0.62155	2.586000	0.87340	0.655000	0.94253	CCG		0.478	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			31	117	0	0	0	1	0	31	117				
CHD3	1107	broad.mit.edu	37	17	7797866	7797866	+	Silent	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr17:7797866C>T	ENST00000330494.7	+	8	1359	c.1209C>T	c.(1207-1209)ctC>ctT	p.L403L	CHD3_ENST00000380358.4_Silent_p.L462L|CHD3_ENST00000358181.4_Silent_p.L403L	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	403					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCTACCACCTCGTCTGCCTTG	0.567																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(1384-1386)ctC>ctT		chromodomain helicase DNA binding protein 3							166.0	123.0	138.0					17																	7797866		2203	4300	6503	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7797866C>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1209C>T	17.37:g.7797866C>T						CHD3_ENST00000358181.4_Silent_p.L403L|CHD3_ENST00000330494.7_Silent_p.L403L	p.L462L	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			8	1387	+		Prostate(122;0.202)	403					D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.1386C>T	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	7.711	0.695097	0.15039	.	.	ENSG00000170004	ENST00000452447	.	.	.	4.81	2.67	0.31697	.	.	.	.	.	T	0.55289	0.1911	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50816	-0.8783	4	.	.	.	-16.3096	7.0856	0.25255	0.0:0.5515:0.2675:0.181	.	.	.	.	C	274	.	.	R	+	1	0	CHD3	7738591	0.971000	0.33674	1.000000	0.80357	0.998000	0.95712	-0.033000	0.12246	1.249000	0.43950	0.557000	0.71058	CGT		0.567	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		5	148	0	0	0	1	0	5	148				
MNDA	4332	broad.mit.edu	37	1	158815706	158815706	+	Silent	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:158815706C>T	ENST00000368141.4	+	5	1161	c.900C>T	c.(898-900)atC>atT	p.I300I		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	300	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					ACAGAATTATCGAAATAGCAA	0.343																																						ENST00000368141.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(898-900)atC>atT		myeloid cell nuclear differentiation antigen							64.0	68.0	67.0					1																	158815706		2203	4300	6503	SO:0001819	synonymous_variant	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158815706C>T	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.900C>T	1.37:g.158815706C>T							p.I300I	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN			5	1161	+	all_hematologic(112;0.0378)		300			HIN-200.			Silent	SNP	ENST00000368141.4	37	c.900C>T	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	C	3.577	-0.086404	0.07097	.	.	ENSG00000163563	ENST00000438394	.	.	.	4.28	-3.4	0.04853	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0088	5.8602	0.18743	0.1364:0.2394:0.5362:0.0879	.	.	.	.	X	6	.	.	R	+	1	2	MNDA	157082330	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.350000	0.01092	-0.816000	0.04340	0.655000	0.94253	CGA		0.343	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		49	62	0	0	0	1	0	49	62				
NPTN	27020	broad.mit.edu	37	15	73925519	73925519	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr15:73925519G>A	ENST00000345330.4	-	1	235	c.38C>T	c.(37-39)tCg>tTg	p.S13L	NPTN_ENST00000287226.8_Missense_Mutation_p.S13L|NPTN_ENST00000545878.1_Missense_Mutation_p.S13L|NPTN_ENST00000351217.6_Missense_Mutation_p.S13L|NPTN_ENST00000563691.1_Missense_Mutation_p.S13L|NPTN_ENST00000542234.1_Missense_Mutation_p.S13L|NPTN_ENST00000562924.1_Missense_Mutation_p.S13L|NPTN_ENST00000564551.1_5'UTR	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	13					homophilic cell adhesion (GO:0007156)|long-term synaptic potentiation (GO:0060291)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)	cell adhesion molecule binding (GO:0050839)|type 1 fibroblast growth factor receptor binding (GO:0005105)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						CAGCAACAGCGAGAGGGCCAG	0.746																																					Pancreas(101;1519 1568 9459 19537 41286)|Esophageal Squamous(143;1278 1787 35254 36835 44843)	ENST00000351217.6																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						c.(37-39)tCg>tTg		neuroplastin							25.0	28.0	27.0					15																	73925519		2158	4242	6400	SO:0001583	missense	27020				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding	g.chr15:73925519G>A	AF035287	CCDS10249.1, CCDS10250.1, CCDS58379.1, CCDS58380.1	15q24.1	2013-01-29	2006-02-22	2006-02-22	ENSG00000156642	ENSG00000156642		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17867	protein-coding gene	gene with protein product		612820	"""stromal cell derived factor receptor 1"""	SDFR1		8619474, 9110174	Standard	NM_012428		Approved	SDR1, GP55, GP65, np65, np55	uc002avs.3	Q9Y639	OTTHUMG00000137586	ENST00000345330.4:c.38C>T	15.37:g.73925519G>A	ENSP00000290401:p.Ser13Leu					NPTN_ENST00000345330.4_Missense_Mutation_p.S13L|NPTN_ENST00000564551.1_5'UTR|NPTN_ENST00000562924.1_Missense_Mutation_p.S13L|NPTN_ENST00000287226.8_Missense_Mutation_p.S13L|NPTN_ENST00000563691.1_Missense_Mutation_p.S13L|NPTN_ENST00000545878.1_Missense_Mutation_p.S13L|NPTN_ENST00000542234.1_Missense_Mutation_p.S13L	p.S13L	NM_001161364.1|NM_017455.3	NP_001154836.1|NP_059429.1	Q9Y639	NPTN_HUMAN			1	956	-			13					B2RAL7|B7Z4D3|B7ZLL2|Q17R52|Q59EJ9|Q6NVX7|Q9Y640	Missense_Mutation	SNP	ENST00000345330.4	37	c.38C>T	CCDS10249.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888517	0.33348	.	.	ENSG00000156642	ENST00000345330;ENST00000351217;ENST00000542234;ENST00000545878;ENST00000287226	T;T;T;T;T	0.66460	0.23;0.02;-0.21;0.32;0.13	4.44	3.52	0.40303	.	0.356185	0.23275	N	0.049963	T	0.40196	0.1107	N	0.08118	0	0.26209	N	0.979329	B;B;B;B;B	0.25390	0.0;0.125;0.0;0.076;0.0	B;B;B;B;B	0.19666	0.001;0.026;0.0;0.007;0.001	T	0.20075	-1.0286	10	0.15952	T	0.53	.	8.2853	0.31924	0.1115:0.0:0.8885:0.0	.	13;13;13;13;13	F5GYM7;Q9Y639-5;B2RAL7;Q9Y639;Q9Y639-3	.;.;.;NPTN_HUMAN;.	L	13	ENSP00000290401:S13L;ENSP00000342958:S13L;ENSP00000440593:S13L;ENSP00000444548:S13L;ENSP00000287226:S13L	ENSP00000287226:S13L	S	-	2	0	NPTN	71712572	1.000000	0.71417	0.998000	0.56505	0.020000	0.10135	1.278000	0.33179	0.853000	0.35312	0.555000	0.69702	TCG		0.746	NPTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268980.1	NM_012428		4	15	0	0	0	1	0	4	15				
MAP4K5	11183	broad.mit.edu	37	14	50935382	50935382	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr14:50935382G>T	ENST00000013125.4	-	10	979	c.661C>A	c.(661-663)Ctc>Atc	p.L221I	Y_RNA_ENST00000364703.1_RNA|MAP4K5_ENST00000557578.1_5'Flank	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					ATTGGGTGGAGATCAAACATA	0.393																																						ENST00000013125.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(661-663)Ctc>Atc		mitogen-activated protein kinase kinase kinase kinase 5							83.0	79.0	80.0					14																	50935382		1906	4140	6046	SO:0001583	missense	11183				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:50935382G>T	U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.661C>A	14.37:g.50935382G>T	ENSP00000013125:p.Leu221Ile						p.L221I	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN			10	979	-	all_epithelial(31;0.000415)|Breast(41;0.0102)		221			Protein kinase.		Q8IYF6	Missense_Mutation	SNP	ENST00000013125.4	37	c.661C>A		.	.	.	.	.	.	.	.	.	.	G	32	5.122380	0.94429	.	.	ENSG00000012983	ENST00000013125	T	0.65178	-0.14	5.58	5.58	0.84498	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	0.75693	0.3884	L	0.54965	1.715	0.80722	D	1	P;D	0.76494	0.859;0.999	P;D	0.80764	0.781;0.994	T	0.72915	-0.4147	10	0.37606	T	0.19	.	18.3426	0.90311	0.0:0.0:1.0:0.0	.	221;221	B2R928;Q9Y4K4	.;M4K5_HUMAN	I	221	ENSP00000013125:L221I	ENSP00000013125:L221I	L	-	1	0	MAP4K5	50005132	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.614000	0.67695	2.636000	0.89361	0.650000	0.86243	CTC		0.393	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575		9	44	1	0	0.000673444	1	0.000682078	9	44				
CEP63	80254	broad.mit.edu	37	3	134264494	134264494	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr3:134264494C>T	ENST00000337090.3	+	7	795	c.622C>T	c.(622-624)Cac>Tac	p.H208Y	CEP63_ENST00000513612.2_Missense_Mutation_p.H208Y|CEP63_ENST00000606977.1_Missense_Mutation_p.H208Y|CEP63_ENST00000354446.3_Missense_Mutation_p.H208Y|CEP63_ENST00000332047.5_Missense_Mutation_p.H208Y|CEP63_ENST00000383229.3_Missense_Mutation_p.H208Y			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	208					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGAAATTCAACACTTAAGCAG	0.428																																						ENST00000337090.3																			0				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(622-624)Cac>Tac		centrosomal protein 63kDa							98.0	91.0	93.0					3																	134264494		2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134264494C>T	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.622C>T	3.37:g.134264494C>T	ENSP00000336524:p.His208Tyr					CEP63_ENST00000332047.5_Missense_Mutation_p.H208Y|CEP63_ENST00000606977.1_Missense_Mutation_p.H208Y|CEP63_ENST00000513612.2_Missense_Mutation_p.H208Y|CEP63_ENST00000383229.3_Missense_Mutation_p.H208Y|CEP63_ENST00000354446.3_Missense_Mutation_p.H208Y	p.H208Y			Q96MT8	CEP63_HUMAN			7	795	+			208					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.622C>T	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085652	0.76642	.	.	ENSG00000182923	ENST00000332047;ENST00000354446;ENST00000337090;ENST00000383229;ENST00000513612	T;T;T;T;T	0.33865	1.43;1.82;2.08;1.39;2.08	5.88	5.88	0.94601	.	0.127528	0.56097	D	0.000034	T	0.57140	0.2033	M	0.64997	1.995	0.42668	D	0.993508	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.81914	0.995;0.953;0.931;0.988	T	0.55036	-0.8203	10	0.49607	T	0.09	-11.659	15.0007	0.71469	0.1424:0.8576:0.0:0.0	.	208;208;208;208	Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3	CEP63_HUMAN;.;.;.	Y	208	ENSP00000328382:H208Y;ENSP00000346432:H208Y;ENSP00000336524:H208Y;ENSP00000372716:H208Y;ENSP00000426129:H208Y	ENSP00000328382:H208Y	H	+	1	0	CEP63	135747184	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.884000	0.56175	2.785000	0.95823	0.650000	0.86243	CAC		0.428	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		23	113	0	0	0	1	0	23	113				
KIF21B	23046	broad.mit.edu	37	1	200956005	200956005	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:200956005C>G	ENST00000422435.2	-	26	3972	c.3656G>C	c.(3655-3657)aGa>aCa	p.R1219T	KIF21B_ENST00000360529.5_Missense_Mutation_p.R1219T|KIF21B_ENST00000332129.2_Missense_Mutation_p.R1219T|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1219T	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1219					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGACTTCCTTCTCGTCAGCGG	0.547																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(3655-3657)aGa>aCa		kinesin family member 21B							139.0	111.0	120.0					1																	200956005		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200956005C>G	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3656G>C	1.37:g.200956005C>G	ENSP00000411831:p.Arg1219Thr					KIF21B_ENST00000422435.2_Missense_Mutation_p.R1219T|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1219T|KIF21B_ENST00000360529.5_Missense_Mutation_p.R1219T	p.R1219T	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			26	3972	-			1219					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.3656G>C	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698986	0.68501	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.75050	-0.58;-0.9;-0.9;-0.6	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	L	0.61218	1.895	0.49582	D	0.999804	P;P;P;P	0.46142	0.799;0.799;0.799;0.873	B;B;B;P	0.44811	0.272;0.272;0.272;0.461	T	0.78823	-0.2052	10	0.52906	T	0.07	.	16.3635	0.83296	0.0:1.0:0.0:0.0	.	1219;1219;1219;1219	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	T	1219	ENSP00000328494:R1219T;ENSP00000353724:R1219T;ENSP00000433808:R1219T;ENSP00000411831:R1219T	ENSP00000328494:R1219T	R	-	2	0	KIF21B	199222628	0.989000	0.36119	0.994000	0.49952	0.862000	0.49288	6.220000	0.72237	2.288000	0.76882	0.650000	0.86243	AGA		0.547	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		24	71	0	0	0	1	0	24	71				
ATAD5	79915	broad.mit.edu	37	17	29220963	29220963	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr17:29220963G>T	ENST00000321990.4	+	21	5470	c.5092G>T	c.(5092-5094)Gat>Tat	p.D1698Y		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1698					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TGAGAGTAATGATGGATGGAC	0.378																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(5092-5094)Gat>Tat		ATPase family, AAA domain containing 5							148.0	152.0	150.0					17																	29220963		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29220963G>T		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.5092G>T	17.37:g.29220963G>T	ENSP00000313171:p.Asp1698Tyr						p.D1698Y	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			21	5470	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1698					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.5092G>T	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055759	0.76074	.	.	ENSG00000176208	ENST00000321990	T	0.07800	3.16	6.08	6.08	0.98989	.	0.714555	0.14797	N	0.297855	T	0.32466	0.0830	M	0.68952	2.095	0.54753	D	0.999985	D	0.89917	1.0	D	0.87578	0.998	T	0.00276	-1.1855	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1698	Q96QE3	ATAD5_HUMAN	Y	1698	ENSP00000313171:D1698Y	ENSP00000313171:D1698Y	D	+	1	0	ATAD5	26245089	1.000000	0.71417	0.708000	0.30435	0.992000	0.81027	5.697000	0.68295	2.894000	0.99253	0.591000	0.81541	GAT		0.378	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		32	91	1	0	5.60225e-13	1	6.23349e-13	32	91				
CDH9	1007	broad.mit.edu	37	5	26903856	26903856	+	Missense_Mutation	SNP	C	C	G	rs201758024		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr5:26903856C>G	ENST00000231021.4	-	6	1061	c.889G>C	c.(889-891)Gtg>Ctg	p.V297L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	297	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTTCCCCCACGTCAGGGTCA	0.413																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(889-891)Gtg>Ctg		cadherin 9, type 2 (T1-cadherin)							235.0	205.0	215.0					5																	26903856		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26903856C>G	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.889G>C	5.37:g.26903856C>G	ENSP00000231021:p.Val297Leu						p.V297L	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			6	1061	-			297			Cadherin 3.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.889G>C	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256552	0.22965	.	.	ENSG00000113100	ENST00000231021	T	0.46063	0.88	5.74	-3.56	0.04626	Cadherin (4);Cadherin-like (1);	0.950475	0.08845	N	0.885287	T	0.15478	0.0373	N	0.05534	-0.03	0.09310	N	1	B	0.02656	0.0	B	0.15870	0.014	T	0.22068	-1.0227	9	.	.	.	.	0.4385	0.00483	0.3119:0.1643:0.2863:0.2374	.	297	Q9ULB4	CADH9_HUMAN	L	297	ENSP00000231021:V297L	.	V	-	1	0	CDH9	26939613	0.120000	0.22244	0.273000	0.24645	0.643000	0.38383	-0.122000	0.10627	-0.473000	0.06871	-0.188000	0.12872	GTG		0.413	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		39	229	0	0	0	1	0	39	229				
FAAH	2166	broad.mit.edu	37	1	46870755	46870755	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:46870755C>G	ENST00000243167.8	+	3	463	c.379C>G	c.(379-381)Cag>Gag	p.Q127E	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	127					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	TCAGCTGTCTCAGGCCCCAAG	0.562																																						ENST00000243167.8																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22						c.(379-381)Cag>Gag		fatty acid amide hydrolase	Propofol(DB00818)|Thiopental(DB00599)						79.0	72.0	74.0					1																	46870755		2203	4300	6503	SO:0001583	missense	2166				fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	g.chr1:46870755C>G	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.379C>G	1.37:g.46870755C>G	ENSP00000243167:p.Gln127Glu					FAAH_ENST00000493735.1_3'UTR	p.Q127E	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN			3	463	+	Acute lymphoblastic leukemia(166;0.155)		127					D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	ENST00000243167.8	37	c.379C>G	CCDS535.1	.	.	.	.	.	.	.	.	.	.	C	0.462	-0.888610	0.02511	.	.	ENSG00000117480	ENST00000243167	T	0.53857	0.6	5.07	1.9	0.25705	Amidase signature domain (2);	0.665977	0.15167	N	0.276872	T	0.16041	0.0386	N	0.01535	-0.81	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.29458	-1.0011	10	0.02654	T	1	-26.3153	2.0213	0.03509	0.2839:0.4334:0.1242:0.1585	.	127	O00519	FAAH1_HUMAN	E	127	ENSP00000243167:Q127E	ENSP00000243167:Q127E	Q	+	1	0	FAAH	46643342	0.000000	0.05858	0.322000	0.25334	0.546000	0.35178	-0.430000	0.06973	0.488000	0.27723	0.313000	0.20887	CAG		0.562	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		20	76	0	0	0	1	0	20	76				
RIPK1	8737	broad.mit.edu	37	6	3085632	3085632	+	Silent	SNP	G	G	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:3085632G>T	ENST00000259808.4	+	6	1126	c.828G>T	c.(826-828)ccG>ccT	p.P276P	RIPK1_ENST00000541791.1_Silent_p.P230P|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Silent_p.P276P			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				AAGCTCGGCCGACATTTCCTG	0.468																																						ENST00000259808.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(826-828)ccG>ccT		receptor (TNFRSF)-interacting serine-threonine kinase 1							74.0	71.0	72.0					6																	3085632		2203	4300	6503	SO:0001819	synonymous_variant	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3085632G>T	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.828G>T	6.37:g.3085632G>T						RIPK1_ENST00000380409.2_Silent_p.P276P|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Silent_p.P230P	p.P276P			Q13546	RIPK1_HUMAN			6	1126	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	276			Protein kinase.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Silent	SNP	ENST00000259808.4	37	c.828G>T	CCDS4482.1																																																																																				0.468	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		27	52	1	0	3.73988e-18	1	4.22073e-18	27	52				
FOXD4L1	200350	broad.mit.edu	37	2	114256927	114256927	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr2:114256927G>C	ENST00000306507.5	+	1	267	c.94G>C	c.(94-96)Gag>Cag	p.E32Q		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	32					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						TGTCCTGGGAgaggaggaaga	0.647																																						ENST00000306507.5																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						c.(94-96)Gag>Cag		forkhead box D4-like 1							23.0	37.0	32.0					2																	114256927		2181	4278	6459	SO:0001583	missense	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114256927G>C	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.94G>C	2.37:g.114256927G>C	ENSP00000302756:p.Glu32Gln						p.E32Q	NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN			1	267	+			32					B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	c.94G>C	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	12.13	1.847039	0.32606	.	.	ENSG00000184492	ENST00000306507	D	0.95918	-3.85	2.67	2.67	0.31697	.	0.000000	0.34110	U	0.004257	D	0.90038	0.6889	L	0.32530	0.975	0.30409	N	0.779295	P	0.37781	0.608	B	0.32465	0.146	D	0.88159	0.2856	10	0.46703	T	0.11	.	11.1052	0.48199	0.0:0.0:1.0:0.0	.	32	Q9NU39	FX4L1_HUMAN	Q	32	ENSP00000302756:E32Q	ENSP00000302756:E32Q	E	+	1	0	FOXD4L1	113973397	1.000000	0.71417	0.995000	0.50966	0.075000	0.17131	3.579000	0.53900	1.487000	0.48415	0.184000	0.17185	GAG		0.647	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		32	101	0	0	0	1	0	32	101				
IFT122	55764	broad.mit.edu	37	3	129233286	129233286	+	Silent	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr3:129233286G>A	ENST00000348417.2	+	25	3119	c.3042G>A	c.(3040-3042)ctG>ctA	p.L1014L	IFT122_ENST00000507564.1_Silent_p.L1007L|IFT122_ENST00000440957.2_Silent_p.L805L|IFT122_ENST00000431818.2_Silent_p.L864L|IFT122_ENST00000347300.2_Silent_p.L955L|IFT122_ENST00000296266.3_Silent_p.L1065L|IFT122_ENST00000504021.1_Silent_p.L891L|IFT122_ENST00000349441.2_Silent_p.L904L	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1014					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCTACAGGCTGGCCCGGCACG	0.602																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(3193-3195)ctG>ctA		intraflagellar transport 122 homolog (Chlamydomonas)							80.0	68.0	72.0					3																	129233286		2203	4300	6503	SO:0001819	synonymous_variant	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129233286G>A	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3042G>A	3.37:g.129233286G>A						IFT122_ENST00000507564.1_Silent_p.L1007L|IFT122_ENST00000504021.1_Silent_p.L891L|IFT122_ENST00000440957.2_Silent_p.L805L|IFT122_ENST00000431818.2_Silent_p.L864L|IFT122_ENST00000349441.2_Silent_p.L904L|IFT122_ENST00000348417.2_Silent_p.L1014L|IFT122_ENST00000347300.2_Silent_p.L955L	p.L1065L	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			26	3387	+			1014					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Silent	SNP	ENST00000348417.2	37	c.3195G>A	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	9.523	1.108801	0.20714	.	.	ENSG00000163913	ENST00000454840	.	.	.	5.32	3.54	0.40534	.	.	.	.	.	T	0.71091	0.3299	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72633	-0.4234	5	0.87932	D	0	-13.2587	11.476	0.50297	0.145:0.0:0.855:0.0	.	.	.	.	S	957	.	ENSP00000388829:G957S	G	+	1	0	IFT122	130715976	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.438000	0.44837	0.642000	0.30620	0.561000	0.74099	GGC		0.602	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		14	60	0	0	0	1	0	14	60				
UBE2I	7329	broad.mit.edu	37	16	1364314	1364314	+	Silent	SNP	A	A	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:1364314A>C	ENST00000355803.4	+	3	638	c.87A>C	c.(85-87)acA>acC	p.T29T	UBE2I_ENST00000566587.1_Silent_p.T29T|UBE2I_ENST00000402301.1_Silent_p.T29T|UBE2I_ENST00000325437.5_Silent_p.T29T|UBE2I_ENST00000397515.2_Silent_p.T29T|UBE2I_ENST00000403747.2_Silent_p.T29T|UBE2I_ENST00000397514.3_Silent_p.T29T|UBE2I_ENST00000406620.1_Silent_p.T29T	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	29					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				CTGTCCCAACAAAAAATCCCG	0.547																																						ENST00000355803.4																			0				breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5						c.(85-87)acA>acC		ubiquitin-conjugating enzyme E2I							83.0	81.0	82.0					16																	1364314		2199	4300	6499	SO:0001819	synonymous_variant	7329				cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity	g.chr16:1364314A>C	D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12485	protein-coding gene	gene with protein product		601661	"""ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)"", ""ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"""			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.87A>C	16.37:g.1364314A>C						UBE2I_ENST00000566587.1_Silent_p.T29T|UBE2I_ENST00000397514.3_Silent_p.T29T|UBE2I_ENST00000325437.5_Silent_p.T29T|UBE2I_ENST00000403747.2_Silent_p.T29T|UBE2I_ENST00000397515.2_Silent_p.T29T|UBE2I_ENST00000406620.1_Silent_p.T29T|UBE2I_ENST00000402301.1_Silent_p.T29T	p.T29T	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN			3	638	+		Hepatocellular(780;0.00369)	29					D3DU69|P50550|Q15698|Q59GX1|Q86VB3	Silent	SNP	ENST00000355803.4	37	c.87A>C	CCDS10433.1																																																																																				0.547	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250317.2	NM_003345		23	42	0	0	0	1	0	23	42				
SLC9C2	284525	broad.mit.edu	37	1	173526508	173526508	+	Missense_Mutation	SNP	C	C	T	rs141463661		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:173526508C>T	ENST00000367714.3	-	10	1608	c.1186G>A	c.(1186-1188)Gct>Act	p.A396T	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.A294T|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	396					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TTTCGTTCAGCGAGATTATAA	0.353													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17292	0.0		0.0	False		,,,				2504	0.0					ENST00000367714.3																			0											c.(1186-1188)Gct>Act		solute carrier family 9, member C2 (putative)		C	THR/ALA	4,4402	8.1+/-20.4	0,4,2199	106.0	116.0	113.0		1186	-2.0	0.0	1	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC9A11	NM_178527.3	58	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	benign	396/1125	173526508	5,13001	2203	4300	6503	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173526508C>T	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1186G>A	1.37:g.173526508C>T	ENSP00000356687:p.Ala396Thr					SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.A294T	p.A396T	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			10	1608	-			396					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.1186G>A	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	2.333	-0.352891	0.05173	9.08E-4	1.16E-4	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.22743	1.94;1.94	5.57	-2.03	0.07365	Cation/H+ exchanger (1);	0.623617	0.15144	N	0.278120	T	0.02888	0.0086	L	0.34521	1.04	0.09310	N	1	B	0.29115	0.233	B	0.20955	0.032	T	0.42699	-0.9436	10	0.15952	T	0.53	-1.2757	3.4217	0.07396	0.4606:0.2402:0.0:0.2991	.	396	Q5TAH2	S9A11_HUMAN	T	396;294	ENSP00000356687:A396T;ENSP00000445437:A294T	ENSP00000356687:A396T	A	-	1	0	SLC9A11	171793131	0.042000	0.20092	0.019000	0.16419	0.003000	0.03518	-0.791000	0.04599	-0.208000	0.10171	-1.265000	0.01443	GCT		0.353	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		26	185	0	0	0	1	0	26	185				
PARP1	142	broad.mit.edu	37	1	226574040	226574040	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:226574040G>A	ENST00000366794.5	-	6	964	c.821C>T	c.(820-822)tCt>tTt	p.S274F		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	274					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CGACTCCCCAGAAGGCACTTG	0.537								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(820-822)tCt>tTt	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							125.0	103.0	110.0					1																	226574040		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226574040G>A	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.821C>T	1.37:g.226574040G>A	ENSP00000355759:p.Ser274Phe						p.S274F	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	6	964	-	Breast(184;0.133)		274					B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.821C>T	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744725	0.89663	.	.	ENSG00000143799	ENST00000366794	T	0.09723	2.95	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.31888	0.0811	M	0.71581	2.175	0.80722	D	1	D	0.61080	0.989	P	0.61328	0.887	T	0.02661	-1.1127	10	0.72032	D	0.01	.	19.0466	0.93022	0.0:0.0:1.0:0.0	.	274	P09874	PARP1_HUMAN	F	274	ENSP00000355759:S274F	ENSP00000355759:S274F	S	-	2	0	PARP1	224640663	1.000000	0.71417	0.529000	0.27951	0.993000	0.82548	9.865000	0.99609	2.575000	0.86900	0.556000	0.70494	TCT		0.537	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		16	54	0	0	0	1	0	16	54				
PLCG2	5336	broad.mit.edu	37	16	81972454	81972454	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:81972454C>A	ENST00000359376.3	+	29	3461	c.3247C>A	c.(3247-3249)Ccc>Acc	p.P1083T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1083	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TATTGCCTGTCCCTTTGTAGA	0.527																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(3247-3249)Ccc>Acc		phospholipase C, gamma 2 (phosphatidylinositol-specific)							116.0	110.0	112.0					16																	81972454		1947	4150	6097	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81972454C>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3247C>A	16.37:g.81972454C>A	ENSP00000352336:p.Pro1083Thr						p.P1083T	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			29	3461	+			1083			C2.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.3247C>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737639	0.89573	.	.	ENSG00000197943	ENST00000359376	T	0.76839	-1.05	5.39	5.39	0.77823	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.89104	0.6620	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90255	0.4296	10	0.87932	D	0	.	19.1452	0.93463	0.0:1.0:0.0:0.0	.	1083	P16885	PLCG2_HUMAN	T	1083	ENSP00000352336:P1083T	ENSP00000352336:P1083T	P	+	1	0	PLCG2	80529955	1.000000	0.71417	0.995000	0.50966	0.752000	0.42762	7.463000	0.80869	2.517000	0.84864	0.561000	0.74099	CCC		0.527	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			10	58	1	0	9.70103e-10	1	1.0427e-09	10	58				
PALLD	23022	broad.mit.edu	37	4	169846389	169846389	+	Nonsense_Mutation	SNP	C	C	T	rs145720372		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr4:169846389C>T	ENST00000505667.1	+	21	3537	c.3364C>T	c.(3364-3366)Cga>Tga	p.R1122*	PALLD_ENST00000335742.7_Intron|PALLD_ENST00000512127.1_Intron|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000507735.1_Intron|PALLD_ENST00000261509.6_Nonsense_Mutation_p.R1105*			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1329					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGTAGTTTCTCGACATTAATA	0.313									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000261509.6																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(3313-3315)Cga>Tga		palladin, cytoskeletal associated protein		C	stop/ARG,,,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	93.0	100.0	97.0		3364,,,3313	5.6	1.0	4	dbSNP_134	97	0,8598		0,0,4299	no	stop-gained,intron,intron,stop-gained	PALLD	NM_001166108.1,NM_001166109.1,NM_001166110.1,NM_016081.3	,,,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,,,	1122/1124,,,1105/1107	169846389	1,13003	2203	4299	6502	SO:0001587	stop_gained	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169846389C>T	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.3364C>T	4.37:g.169846389C>T	ENSP00000425556:p.Arg1122*					PALLD_ENST00000512127.1_Intron|PALLD_ENST00000335742.7_Intron|PALLD_ENST00000505667.1_Nonsense_Mutation_p.R1122*|PALLD_ENST00000507735.1_Intron|CBR4_ENST00000509108.1_Intron	p.R1105*	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	20	3524	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	1329					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Nonsense_Mutation	SNP	ENST00000505667.1	37	c.3313C>T	CCDS54818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.045169|4.045169	0.75846|0.75846	2.27E-4|2.27E-4	0.0|0.0	ENSG00000129116|ENSG00000129116	ENST00000261509;ENST00000505667|ENST00000503290	.|T	.|0.58652	.|0.32	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67277	.|0.2876	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63065	.|-0.6720	.|6	0.07175|0.33141	T|T	0.84|0.24	.|.	16.7543|16.7543	0.85495|0.85495	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1105;1122|158	.|ENSP00000425729:S158L	ENSP00000261509:R1105X|ENSP00000425729:S158L	R|S	+|+	1|2	2|0	PALLD|PALLD	170082964|170082964	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.944000|0.944000	0.59088|0.59088	3.438000|3.438000	0.52871|0.52871	2.649000|2.649000	0.89929|0.89929	0.557000|0.557000	0.71058|0.71058	CGA|TCG		0.313	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		48	200	0	0	0	1	0	48	200				
PCDH15	65217	broad.mit.edu	37	10	55839108	55839108	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr10:55839108C>T	ENST00000320301.6	-	17	2468	c.2074G>A	c.(2074-2076)Gat>Aat	p.D692N	PCDH15_ENST00000409834.1_Missense_Mutation_p.D303N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D692N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D692N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D697N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D670N|PCDH15_ENST00000395430.1_Missense_Mutation_p.D692N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D692N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D699N|PCDH15_ENST00000395446.1_Missense_Mutation_p.D692N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D621N|PCDH15_ENST00000395432.2_Missense_Mutation_p.D655N|PCDH15_ENST00000373965.2_Missense_Mutation_p.D699N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.D670N	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	692	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGCCTGCCATCTGAAGCTGTG	0.433										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(2095-2097)Gat>Aat		protocadherin-related 15							235.0	208.0	217.0					10																	55839108		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55839108C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2074G>A	10.37:g.55839108C>T	ENSP00000322604:p.Asp692Asn	HNSCC(58;0.16)				PCDH15_ENST00000395430.1_Missense_Mutation_p.D692N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D621N|PCDH15_ENST00000395446.1_Missense_Mutation_p.D692N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D670N|PCDH15_ENST00000409834.1_Missense_Mutation_p.D303N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D692N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D699N|PCDH15_ENST00000395432.2_Missense_Mutation_p.D655N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D692N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.D670N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D697N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D692N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D692N	p.D699N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			18	2489	-		Melanoma(3;0.117)|Lung SC(717;0.238)	692			Cadherin 6.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2095G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922734	0.92319	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69926	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.44;-0.15	5.9	5.9	0.94986	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.83372	0.5240	M	0.76838	2.35	0.58432	D	0.999996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D	0.84225	0.0463	9	0.87932	D	0	.	19.8634	0.96793	0.0:1.0:0.0:0.0	.	670;692;692;697;621;655;692;692;699;699;692;697;692;670;692	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	N	699;697;692;692;303;699;692;655;692;670;670;692;692;697;621;692	ENSP00000363076:D699N;ENSP00000410304:D697N;ENSP00000378826:D692N;ENSP00000386693:D303N;ENSP00000378832:D699N;ENSP00000378833:D692N;ENSP00000378820:D655N;ENSP00000354950:D692N;ENSP00000378821:D670N;ENSP00000363068:D670N;ENSP00000322604:D692N;ENSP00000378818:D692N;ENSP00000412628:D621N;ENSP00000363066:D692N	ENSP00000322604:D692N	D	-	1	0	PCDH15	55509114	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.408000	0.66368	2.800000	0.96347	0.591000	0.81541	GAT		0.433	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		6	196	0	0	0	1	0	6	196				
HIST2H2BE	8349	broad.mit.edu	37	1	149857997	149857997	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:149857997G>C	ENST00000369155.2	-	1	235	c.194C>G	c.(193-195)tCc>tGc	p.S65C	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	65					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GTTGACGAAGGAGTTCATGAT	0.607																																						ENST00000369155.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(193-195)tCc>tGc		histone cluster 2, H2be							156.0	143.0	147.0					1																	149857997		2203	4297	6500	SO:0001583	missense	8349				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr1:149857997G>C	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.194C>G	1.37:g.149857997G>C	ENSP00000358151:p.Ser65Cys						p.S65C	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	235	-	Breast(34;0.0124)|all_hematologic(923;0.127)		65					A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	ENST00000369155.2	37	c.194C>G	CCDS936.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660449	0.88154	.	.	ENSG00000184678	ENST00000369155	T	0.71222	-0.55	5.89	5.89	0.94794	Histone-fold (2);Histone core (1);	0.000000	0.64402	D	0.000001	D	0.87481	0.6188	M	0.93197	3.39	0.44908	D	0.997928	D	0.89917	1.0	D	0.81914	0.995	D	0.89509	0.3770	10	0.72032	D	0.01	.	18.9081	0.92471	0.0:0.0:1.0:0.0	.	65	Q16778	H2B2E_HUMAN	C	65	ENSP00000358151:S65C	ENSP00000358151:S65C	S	-	2	0	HIST2H2BE	148124621	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.717000	0.98755	2.810000	0.96702	0.586000	0.80456	TCC		0.607	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		48	187	0	0	0	1	0	48	187				
NBEA	26960	broad.mit.edu	37	13	35672472	35672472	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr13:35672472G>A	ENST00000400445.3	+	11	2144	c.1610G>A	c.(1609-1611)aGt>aAt	p.S537N	NBEA_ENST00000540320.1_Missense_Mutation_p.S537N|NBEA_ENST00000379939.2_Missense_Mutation_p.S537N|NBEA_ENST00000310336.4_Missense_Mutation_p.S537N	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	537					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTACTTAAAAGTTCAGTAGCC	0.368																																						ENST00000400445.3																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(1609-1611)aGt>aAt		neurobeachin							88.0	78.0	81.0					13																	35672472		1884	4125	6009	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35672472G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1610G>A	13.37:g.35672472G>A	ENSP00000383295:p.Ser537Asn					NBEA_ENST00000310336.4_Missense_Mutation_p.S537N|NBEA_ENST00000379939.2_Missense_Mutation_p.S537N|NBEA_ENST00000540320.1_Missense_Mutation_p.S537N	p.S537N	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	11	2144	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	537					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.1610G>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964772	0.34659	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	N	0.16037	0.36	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.09400	-1.0676	10	0.11794	T	0.64	.	18.4524	0.90709	0.0:0.0:1.0:0.0	.	537	Q5T321	.	N	537	ENSP00000440951:S537N;ENSP00000383295:S537N;ENSP00000369271:S537N;ENSP00000308534:S537N	ENSP00000308534:S537N	S	+	2	0	NBEA	34570472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.773000	0.85462	2.345000	0.79718	0.585000	0.79938	AGT		0.368	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		10	4	0	0	0	1	0	10	4				
INSL6	11172	broad.mit.edu	37	9	5185550	5185550	+	Missense_Mutation	SNP	C	C	T	rs201600640		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr9:5185550C>T	ENST00000381641.3	-	1	118	c.53G>A	c.(52-54)cGg>cAg	p.R18Q		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	18					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)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		ACGAGAAAACCGAACCAGCAG	0.597																																						ENST00000381641.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15						c.(52-54)cGg>cAg		insulin-like 6							38.0	35.0	36.0					9																	5185550		2203	4300	6503	SO:0001583	missense	11172					extracellular region	hormone activity	g.chr9:5185550C>T	AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"""relaxin/insulin-like factor 1"""	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.53G>A	9.37:g.5185550C>T	ENSP00000371054:p.Arg18Gln						p.R18Q	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)	1	118	-	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)	18					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000381641.3	37	c.53G>A	CCDS6458.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251462	0.39797	.	.	ENSG00000120210	ENST00000381641	D	0.84146	-1.81	4.25	2.26	0.28386	Insulin-like (1);	1.738330	0.03063	N	0.156098	T	0.78336	0.4267	N	0.20986	0.625	0.09310	N	1	D	0.67145	0.996	P	0.46320	0.512	T	0.67229	-0.5723	10	0.17832	T	0.49	11.4678	6.5266	0.22305	0.2315:0.5771:0.1914:0.0	.	18	Q9Y581	INSL6_HUMAN	Q	18	ENSP00000371054:R18Q	ENSP00000371054:R18Q	R	-	2	0	INSL6	5175550	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.215000	0.09279	0.646000	0.30693	0.650000	0.86243	CGG		0.597	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3	NM_007179		4	26	0	0	0	1	0	4	26				
TLR9	54106	broad.mit.edu	37	3	52255539	52255539	+	Silent	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr3:52255539G>A	ENST00000360658.2	-	2	3426	c.2793C>T	c.(2791-2793)cgC>cgT	p.R931R	TLR9_ENST00000597542.1_Silent_p.R955R|TLR9_ENST00000494383.1_Nonsense_Mutation_p.Q1085*	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	931	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	ACAGCGTCTTGCGGCTGCCAT	0.672																																						ENST00000494383.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(3253-3255)Caa>Taa		toll-like receptor 9	Chloroquine(DB00608)						42.0	48.0	46.0					3																	52255539		2183	4273	6456	SO:0001819	synonymous_variant	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52255539G>A	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2793C>T	3.37:g.52255539G>A						TLR9_ENST00000360658.2_Silent_p.R931R|TLR9_ENST00000597542.1_Silent_p.R955R	p.Q1085*			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	3252	-			0					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Nonsense_Mutation	SNP	ENST00000360658.2	37	c.3253C>T	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	G	7.644	0.681438	0.14907	.	.	ENSG00000173366	ENST00000494383	.	.	.	5.51	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4778	0.11752	0.0834:0.1542:0.6027:0.1596	.	.	.	.	X	1085	.	.	Q	-	1	0	RP11-330H6.5	52230579	0.322000	0.24634	1.000000	0.80357	0.986000	0.74619	0.487000	0.22356	0.673000	0.31224	-0.218000	0.12543	CAA		0.672	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			53	51	0	0	0	1	0	53	51				
ABCC1	4363	broad.mit.edu	37	16	16142160	16142160	+	Splice_Site	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:16142160G>A	ENST00000399410.3	+	10	1555	c.1380G>A	c.(1378-1380)ctG>ctA	p.L460L	ABCC1_ENST00000351154.5_Splice_Site_p.L460L|ABCC1_ENST00000399408.2_Splice_Site_p.L460L|ABCC1_ENST00000349029.5_Splice_Site_p.L460L|ABCC1_ENST00000345148.5_Splice_Site_p.L460L|ABCC1_ENST00000346370.5_Splice_Site_p.L460L	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	460	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TCCTGTGGCTGGTGTGTGTTT	0.552																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.e10+1		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						117.0	119.0	118.0					16																	16142160		2091	4226	6317	SO:0001630	splice_region_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16142160G>A	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1380+1G>A	16.37:g.16142160G>A						ABCC1_ENST00000399410.3_Splice_Site_p.L460_splice|ABCC1_ENST00000345148.5_Splice_Site_p.L460_splice|ABCC1_ENST00000346370.5_Splice_Site_p.L460_splice|ABCC1_ENST00000349029.5_Splice_Site_p.L460_splice|ABCC1_ENST00000351154.5_Splice_Site_p.L460_splice	p.L460_splice			P33527	MRP1_HUMAN			10	1555	+			460			ABC transmembrane type-1 1.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Splice_Site	SNP	ENST00000399410.3	37	c.1380_splice	CCDS42122.1																																																																																				0.552	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996	Silent	25	98	0	0	0	1	0	25	98				
ZNF804A	91752	broad.mit.edu	37	2	185800982	185800982	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr2:185800982G>A	ENST00000302277.6	+	4	1453	c.859G>A	c.(859-861)Gac>Aac	p.D287N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	287							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AATGTGCAGAGACAAAGAAAC	0.373																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(859-861)Gac>Aac		zinc finger protein 804A							52.0	49.0	50.0					2																	185800982		2203	4299	6502	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185800982G>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.859G>A	2.37:g.185800982G>A	ENSP00000303252:p.Asp287Asn						p.D287N	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	1453	+			287					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.859G>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	9.687	1.150753	0.21371	.	.	ENSG00000170396	ENST00000302277	T	0.49720	0.77	5.57	3.74	0.42951	.	0.673509	0.14244	N	0.331892	T	0.48943	0.1528	M	0.64997	1.995	0.09310	N	1	D	0.56521	0.976	P	0.49140	0.601	T	0.45498	-0.9257	10	0.62326	D	0.03	-2.829	5.2603	0.15569	0.0767:0.1454:0.6272:0.1507	.	287	Q7Z570	Z804A_HUMAN	N	287	ENSP00000303252:D287N	ENSP00000303252:D287N	D	+	1	0	ZNF804A	185509227	0.967000	0.33354	0.741000	0.31004	0.266000	0.26442	1.827000	0.39102	1.311000	0.45024	0.591000	0.81541	GAC		0.373	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		22	77	0	0	0	1	0	22	77				
APCDD1	147495	broad.mit.edu	37	18	10471966	10471966	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr18:10471966G>A	ENST00000355285.5	+	3	1036	c.682G>A	c.(682-684)Gag>Aag	p.E228K	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CCACCTGGTCGAGGAGCTCTT	0.567																																						ENST00000355285.4																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(682-684)Gag>Aag		adenomatosis polyposis coli down-regulated 1							89.0	87.0	88.0					18																	10471966		2203	4300	6503	SO:0001583	missense	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10471966G>A	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.682G>A	18.37:g.10471966G>A	ENSP00000347433:p.Glu228Lys					APCDD1_ENST00000584596.1_3'UTR|APCDD1_ENST00000578882.1_Intron	p.E228K	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	3	1036	+			228						Missense_Mutation	SNP	ENST00000355285.5	37	c.682G>A	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455830	0.63401	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.17691	2.26	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.42268	0.1195	M	0.73962	2.25	0.80722	D	1	D	0.69078	0.997	P	0.61940	0.896	T	0.37126	-0.9719	10	0.72032	D	0.01	-36.3973	18.945	0.92618	0.0:0.0:1.0:0.0	.	228	Q8J025	APCD1_HUMAN	K	228;279	ENSP00000347433:E228K	ENSP00000347433:E228K	E	+	1	0	APCDD1	10461966	1.000000	0.71417	0.995000	0.50966	0.162000	0.22319	7.566000	0.82347	2.477000	0.83638	0.655000	0.94253	GAG		0.567	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		41	184	0	0	0	1	0	41	184				
FAM69C	125704	broad.mit.edu	37	18	72103933	72103933	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr18:72103933G>A	ENST00000343998.6	-	4	1071	c.1063C>T	c.(1063-1065)Cgc>Tgc	p.R355C	FAM69C_ENST00000400291.2_Missense_Mutation_p.R56C	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	355						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|ovary(2)	5						AACCAATGGCGAAATATTTTG	0.522																																						ENST00000343998.6																			0				breast(1)|large_intestine(2)|ovary(2)	5						c.(1063-1065)Cgc>Tgc		family with sequence similarity 69, member C							22.0	23.0	23.0					18																	72103933		1883	4117	6000	SO:0001583	missense	125704					endoplasmic reticulum membrane|integral to membrane		g.chr18:72103933G>A	BC019628	CCDS42445.2	18q22.3	2012-08-03	2009-07-23	2009-07-23	ENSG00000187773	ENSG00000187773			31729	protein-coding gene	gene with protein product		614544	"""chromosome 18 open reading frame 51"""	C18orf51		21334309	Standard	NM_001044369		Approved		uc002llk.3	Q0P6D2	OTTHUMG00000156984	ENST00000343998.6:c.1063C>T	18.37:g.72103933G>A	ENSP00000344331:p.Arg355Cys					FAM69C_ENST00000400291.2_Missense_Mutation_p.R56C	p.R355C	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN			4	1071	-			355						Missense_Mutation	SNP	ENST00000343998.6	37	c.1063C>T	CCDS42445.2	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704990	0.68615	.	.	ENSG00000187773	ENST00000400291;ENST00000343998	.	.	.	5.1	5.1	0.69264	.	0.110769	0.64402	D	0.000015	T	0.78904	0.4357	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.78406	-0.2216	9	0.39692	T	0.17	1.418	18.9364	0.92588	0.0:0.0:1.0:0.0	.	355	Q0P6D2	FA69C_HUMAN	C	56;355	.	ENSP00000344331:R355C	R	-	1	0	FAM69C	70254913	1.000000	0.71417	0.882000	0.34594	0.779000	0.44077	3.004000	0.49513	2.556000	0.86216	0.558000	0.71614	CGC		0.522	FAM69C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346971.2	XM_058931		6	28	0	0	0	1	0	6	28				
ITPKB	3707	broad.mit.edu	37	1	226836413	226836413	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:226836413G>C	ENST00000272117.3	-	2	1991	c.1992C>G	c.(1990-1992)ttC>ttG	p.F664L	ITPKB_ENST00000429204.1_Missense_Mutation_p.F664L			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	664					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				ACTTCTTCTTGAAGGACATGA	0.493																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(1990-1992)ttC>ttG		inositol-trisphosphate 3-kinase B							189.0	184.0	186.0					1																	226836413		2203	4300	6503	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226836413G>C	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.1992C>G	1.37:g.226836413G>C	ENSP00000272117:p.Phe664Leu					ITPKB_ENST00000272117.3_Missense_Mutation_p.F664L	p.F664L	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			3	2319	-		Prostate(94;0.0773)	664					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.1992C>G	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907498	0.72868	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.26518	1.73;1.73	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.35219	0.0924	M	0.70842	2.15	0.58432	D	0.999997	B	0.19935	0.04	B	0.21151	0.033	T	0.15464	-1.0436	10	0.66056	D	0.02	-23.7772	19.8414	0.96690	0.0:0.0:1.0:0.0	.	664	P27987	IP3KB_HUMAN	L	664	ENSP00000272117:F664L;ENSP00000411152:F664L	ENSP00000272117:F664L	F	-	3	2	ITPKB	224903036	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.210000	0.72176	2.769000	0.95229	0.655000	0.94253	TTC		0.493	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		32	110	0	0	0	1	0	32	110				
FASTK	10922	broad.mit.edu	37	7	150776710	150776710	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr7:150776710G>A	ENST00000297532.6	-	2	459	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	FASTK_ENST00000353841.2_Intron|FASTK_ENST00000540185.1_Missense_Mutation_p.R94W|FASTK_ENST00000482571.1_Missense_Mutation_p.R128W|FASTK_ENST00000489884.1_Intron	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	128					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GGCCGTGGCCGAGACCCCAAG	0.647																																						ENST00000540185.1																			0				lung(4)|stomach(2)	6						c.(280-282)Cgg>Tgg		Fas-activated serine/threonine kinase							43.0	42.0	43.0					7																	150776710		2203	4299	6502	SO:0001583	missense	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150776710G>A		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.382C>T	7.37:g.150776710G>A	ENSP00000297532:p.Arg128Trp					FASTK_ENST00000353841.2_Intron|FASTK_ENST00000489884.1_Intron|FASTK_ENST00000482571.1_Missense_Mutation_p.R128W|FASTK_ENST00000297532.6_Missense_Mutation_p.R128W	p.R94W			Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	2	884	-			128					A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	ENST00000297532.6	37	c.280C>T	CCDS5918.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718036	0.48622	.	.	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000297532;ENST00000482571;ENST00000540185	T;T;T	0.48836	0.8;0.8;0.8	3.96	3.05	0.35203	.	2.109220	0.02967	N	0.143897	T	0.47746	0.1462	N	0.14661	0.345	0.22342	N	0.999188	D;P;P	0.69078	0.997;0.939;0.83	P;P;B	0.53861	0.736;0.491;0.063	T	0.50825	-0.8782	10	0.62326	D	0.03	-28.4954	10.651	0.45649	0.0:0.0:0.8077:0.1923	.	94;128;128	G3V1R6;F8VTW9;Q14296	.;.;FASTK_HUMAN	W	128;128;128;128;94	ENSP00000297532:R128W;ENSP00000418516:R128W;ENSP00000444498:R94W	ENSP00000297530:R128W	R	-	1	2	FASTK	150407643	0.260000	0.24053	0.361000	0.25849	0.958000	0.62258	3.099000	0.50267	1.197000	0.43143	0.655000	0.94253	CGG		0.647	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		7	27	0	0	0	1	0	7	27				
TNFRSF9	3604	broad.mit.edu	37	1	7993298	7993298	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:7993298G>T	ENST00000377507.3	-	7	769	c.603C>A	c.(601-603)ttC>ttA	p.F201L		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	201					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		AGAACAGCAGGAAGAGCAACG	0.438																																						ENST00000377507.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(601-603)ttC>ttA		tumor necrosis factor receptor superfamily, member 9							98.0	82.0	88.0					1																	7993298		2203	4300	6503	SO:0001583	missense	3604				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	g.chr1:7993298G>T	L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.603C>A	1.37:g.7993298G>T	ENSP00000366729:p.Phe201Leu						p.F201L	NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)	7	769	-	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	201						Missense_Mutation	SNP	ENST00000377507.3	37	c.603C>A	CCDS92.1	.	.	.	.	.	.	.	.	.	.	G	4.998	0.185384	0.09495	.	.	ENSG00000049249	ENST00000377507	T	0.68903	-0.36	4.57	1.51	0.23008	.	2.332560	0.01314	N	0.010708	T	0.55878	0.1948	L	0.43152	1.355	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.27226	-1.0080	10	0.08381	T	0.77	-0.0173	6.1651	0.20386	0.1035:0.3403:0.5563:0.0	.	201	Q07011	TNR9_HUMAN	L	201	ENSP00000366729:F201L	ENSP00000366729:F201L	F	-	3	2	TNFRSF9	7915885	0.790000	0.28787	0.273000	0.24645	0.100000	0.18952	1.168000	0.31859	0.608000	0.30000	0.563000	0.77884	TTC		0.438	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1			4	61	1	0	0.00909568	1	0.00915361	4	61				
EEF1A1	1915	broad.mit.edu	37	6	74227810	74227810	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:74227810C>G	ENST00000316292.9	-	6	2198	c.1207G>C	c.(1207-1209)Gat>Cat	p.D403H	EEF1A1_ENST00000309268.6_Missense_Mutation_p.D403H|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.D403H	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	403					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GGAACCATATCAACAATGGCA	0.423											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(1207-1209)Gat>Cat		eukaryotic translation elongation factor 1 alpha 1							9.0	9.0	9.0					6																	74227810		2083	4217	6300	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74227810C>G	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.1207G>C	6.37:g.74227810C>G	ENSP00000339063:p.Asp403His		OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_ENST00000309268.6_Missense_Mutation_p.D403H|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.D403H	p.D403H	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			6	2198	-			403					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.1207G>C	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006263	0.54361	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.43688	0.94;0.94;0.94	4.81	4.81	0.61882	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (2);Translation elongation factor EFTu/EF1A, C-terminal (2);	0.058917	0.64402	U	0.000004	T	0.30759	0.0775	L	0.55990	1.75	0.80722	D	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.20577	0.02;0.02;0.03	T	0.20438	-1.0275	10	0.59425	D	0.04	.	18.3119	0.90203	0.0:1.0:0.0:0.0	.	403;403;403	P68104;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;EF1A3_HUMAN	H	403;401;403;403;382	ENSP00000339063:D403H;ENSP00000339053:D403H;ENSP00000330054:D403H	ENSP00000339053:D403H	D	-	1	0	EEF1A1	74284531	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	5.681000	0.68175	2.381000	0.81170	0.556000	0.70494	GAT		0.423	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		4	14	0	0	0	1	0	4	14				
CDKN2A	1029	broad.mit.edu	37	9	21971138	21971138	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr9:21971138C>T	ENST00000304494.5	-	2	490	c.220G>A	c.(220-222)Gac>Aac	p.D74N	CDKN2A_ENST00000479692.2_Missense_Mutation_p.D23N|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R88Q|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D23N|CDKN2A_ENST00000579755.1_Missense_Mutation_p.R88Q|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D74N|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D23N|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D74N|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D74N|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D23N|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R129Q|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D23N	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	74			D -> N (in a bladder tumor).|D -> V (in a biliary tract tumor).|D -> Y (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.?(44)|p.D74Y(5)|p.D74N(2)|p.E61_L94del(1)|p.0(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.C72fs*71(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)		GTGGCGGGGTCGGCGCAGTTG	0.711		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1		17																	1372	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(4)|Deletion - In frame(1)	p.0?(1315)|p.?(44)|p.D74Y(5)|p.D74N(2)|p.E61_L94del(1)|p.0(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.C72fs*71(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(146)|urinary_tract(91)|bone(74)|oesophagus(58)|soft_tissue(57)|pleura(51)|upper_aerodigestive_tract(50)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|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	CM045607	CDKN2A	M		c.(262-264)cGa>cAa		cyclin-dependent kinase inhibitor 2A							9.0	11.0	10.0					9																	21971138		2169	4243	6412	SO:0001583	missense	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.chr9:21971138C>T	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.220G>A	9.37:g.21971138C>T	ENSP00000307101:p.Asp74Asn	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000530628.2_Missense_Mutation_p.R88Q|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D23N|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D23N|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D74N|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D74N|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D74N|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D74N|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D23N|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R129Q|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D23N|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D23N|RP11-145E5.5_ENST00000404796.2_Intron	p.R88Q			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	555	-		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)	144		E -> D (in a biliary tract tumor).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.263G>A	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.80|17.80	3.478348|3.478348	0.63849|0.63849	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	D;D|T;T	0.93906|0.78595	-3.31;-3.31|-1.19;-1.12	5.79|5.79	5.79|5.79	0.91817|0.91817	Ankyrin repeat-containing domain (4);|.	.|1.227470	.|0.06229	.|N	.|0.688226	T|T	0.71492|0.71492	0.3346|0.3346	N|N	0.24115|0.24115	0.695|0.695	0.42019|0.42019	D|D	0.990975|0.990975	D|P	0.89917|0.52061	1.0|0.95	D|B	0.83275|0.40864	0.996|0.342	T|T	0.65981|0.65981	-0.6036|-0.6036	9|10	0.48119|0.27082	T|T	0.1|0.32	-18.6892|-18.6892	18.8024|18.8024	0.92023|0.92023	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	74|129	P42771|Q8N726	CD2A1_HUMAN|CD2A2_HUMAN	N|Q	74|129;88	ENSP00000307101:D74N;ENSP00000394932:D74N|ENSP00000355153:R129Q;ENSP00000432664:R88Q	ENSP00000307101:D74N|ENSP00000355153:R129Q	D|R	-|-	1|2	0|0	CDKN2A|CDKN2A	21961138|21961138	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.832000|0.832000	0.47134|0.47134	6.879000|6.879000	0.75572|0.75572	2.734000|2.734000	0.93682|0.93682	0.555000|0.555000	0.69702|0.69702	GAC|CGA		0.711	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		13	3	0	0	0	1	0	13	3				
GINS2	51659	broad.mit.edu	37	16	85721081	85721081	+	Missense_Mutation	SNP	C	C	G	rs543625793		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:85721081C>G	ENST00000253462.3	-	2	290	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	C16orf74_ENST00000602758.1_5'Flank	NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	64					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						TCCATCCACTCTGGAGGGAGC	0.607																																						ENST00000253462.3																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(190-192)Gag>Cag		GINS complex subunit 2 (Psf2 homolog)							184.0	144.0	158.0					16																	85721081		2198	4300	6498	SO:0001583	missense	51659				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding	g.chr16:85721081C>G	BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.190G>C	16.37:g.85721081C>G	ENSP00000253462:p.Glu64Gln						p.E64Q	NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN			2	290	-			64					D3DUM5|Q6IAG9	Missense_Mutation	SNP	ENST00000253462.3	37	c.190G>C	CCDS10953.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331190	0.24167	.	.	ENSG00000131153	ENST00000253462	.	.	.	4.3	4.3	0.51218	.	0.273464	0.34932	N	0.003573	T	0.36441	0.0967	L	0.41027	1.25	0.19300	N	0.999978	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.14254	-1.0479	9	0.21540	T	0.41	-7.8405	11.5865	0.50920	0.0:0.8187:0.1813:0.0	.	64;64	Q53G08;Q9Y248	.;PSF2_HUMAN	Q	64	.	ENSP00000253462:E64Q	E	-	1	0	GINS2	84278582	0.035000	0.19736	0.017000	0.16124	0.526000	0.34562	2.505000	0.45424	1.950000	0.56595	0.484000	0.47621	GAG		0.607	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269098.1	NM_016095		16	108	0	0	0	1	0	16	108				
MRPS17	51373	broad.mit.edu	37	7	56020972	56020972	+	Silent	SNP	G	G	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr7:56020972G>C	ENST00000285298.4	+	2	213	c.84G>C	c.(82-84)gtG>gtC	p.V28V	MRPS17_ENST00000426595.1_Silent_p.V123V	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	28					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGCTAAAGTGAGAGTGACCA	0.468																																						ENST00000285298.4																			0				kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(82-84)gtG>gtC		mitochondrial ribosomal protein S17							181.0	158.0	166.0					7																	56020972		2203	4300	6503	SO:0001819	synonymous_variant	51373				translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr7:56020972G>C	AB051352	CCDS5520.1	7p11-q11.21	2012-09-13			ENSG00000239789	ENSG00000239789		"""Mitochondrial ribosomal proteins / small subunits"""	14047	protein-coding gene	gene with protein product	"""28S ribosomal protein S17, mitochondrial"""	611980				11279123	Standard	NM_015969		Approved	HSPC011, RPMS17, MRP-S17	uc003trd.3	Q9Y2R5	OTTHUMG00000023153	ENST00000285298.4:c.84G>C	7.37:g.56020972G>C						MRPS17_ENST00000426595.1_Silent_p.V123V	p.V28V	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	213	+	Breast(14;0.214)		28					Q86X15	Silent	SNP	ENST00000285298.4	37	c.84G>C	CCDS5520.1																																																																																				0.468	MRPS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251527.2	NM_015969		25	148	0	0	0	1	0	25	148				
OXT	5020	broad.mit.edu	37	20	3052340	3052340	+	Silent	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr20:3052340C>T	ENST00000217386.2	+	1	75	c.39C>T	c.(37-39)ctC>ctT	p.L13L		NM_000915.2	NP_000906.1	P01178	NEU1_HUMAN	oxytocin/neurophysin I prepropeptide	13					drinking behavior (GO:0042756)|eating behavior (GO:0042755)|female pregnancy (GO:0007565)|grooming behavior (GO:0007625)|heart development (GO:0007507)|hyperosmotic salinity response (GO:0042538)|male mating behavior (GO:0060179)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|memory (GO:0007613)|negative regulation of blood pressure (GO:0045776)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of urine volume (GO:0035811)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of female receptivity (GO:0045925)|positive regulation of hindgut contraction (GO:0060450)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of ossification (GO:0045778)|positive regulation of penile erection (GO:0060406)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of heart rate (GO:0002027)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ether (GO:0045472)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|response to prostaglandin E (GO:0034695)|response to retinoic acid (GO:0032526)|response to sucrose (GO:0009744)|signal transduction (GO:0007165)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)				lung(2)	2					Oxytocin(DB00107)	TGCTCGGCCTCCTGGCGCTGA	0.701																																						ENST00000217386.2																			0				lung(2)	2						c.(37-39)ctC>ctT		oxytocin/neurophysin I prepropeptide	Oxytocin(DB00107)						14.0	14.0	14.0					20																	3052340		2183	4271	6454	SO:0001819	synonymous_variant	5020				signal transduction		neurohypophyseal hormone activity	g.chr20:3052340C>T		CCDS13044.1	20p13	2013-02-28	2012-10-23		ENSG00000101405	ENSG00000101405		"""Endogenous ligands"""	8528	protein-coding gene	gene with protein product	"""oxytocin"", ""neurophysin I"""	167050	"""oxytocin, prepro- (neurophysin I)"", ""oxytocin, prepropeptide"""	OT			Standard	NM_000915		Approved	OXT-NPI, OT-NPI	uc002wht.1	P01178	OTTHUMG00000031724	ENST00000217386.2:c.39C>T	20.37:g.3052340C>T							p.L13L	NM_000915.2	NP_000906.1	P01178	NEU1_HUMAN			1	75	+			13					Q3MIG0	Silent	SNP	ENST00000217386.2	37	c.39C>T	CCDS13044.1																																																																																				0.701	OXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077698.2	NM_000915		5	12	0	0	0	1	0	5	12				
TDRD1	56165	broad.mit.edu	37	10	115970681	115970681	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr10:115970681G>A	ENST00000369280.1	+	13	2075	c.1615G>A	c.(1615-1617)Gat>Aat	p.D539N	TDRD1_ENST00000369281.2_Missense_Mutation_p.D539N|TDRD1_ENST00000251864.2_Missense_Mutation_p.D539N|TDRD1_ENST00000422662.1_Missense_Mutation_p.D200N|TDRD1_ENST00000369282.1_Missense_Mutation_p.D539N			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	539					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TCCACGCTCTGATTTTTATCC	0.348																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(1615-1617)Gat>Aat		tudor domain containing 1							120.0	108.0	112.0					10																	115970681		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115970681G>A	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1615G>A	10.37:g.115970681G>A	ENSP00000358286:p.Asp539Asn					TDRD1_ENST00000422662.1_Missense_Mutation_p.D200N|TDRD1_ENST00000369282.1_Missense_Mutation_p.D539N|TDRD1_ENST00000369280.1_Missense_Mutation_p.D539N|TDRD1_ENST00000369281.2_Missense_Mutation_p.D539N	p.D539N	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	13	1768	+		Colorectal(252;0.172)|Breast(234;0.188)	539					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.1615G>A		.	.	.	.	.	.	.	.	.	.	G	7.626	0.677879	0.14841	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97	5.9	4.05	0.47172	Maternal tudor protein (1);	0.205916	0.39985	N	0.001202	T	0.05960	0.0155	N	0.13352	0.335	0.09310	N	1	B;B;P;B;B	0.43431	0.025;0.058;0.807;0.047;0.384	B;B;B;B;B	0.41946	0.065;0.055;0.371;0.033;0.23	T	0.28902	-1.0029	10	0.23302	T	0.38	-14.3001	5.4576	0.16600	0.2129:0.0:0.6388:0.1482	.	200;539;539;539;539	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	N	539;539;539;200;539	ENSP00000358288:D539N;ENSP00000251864:D539N;ENSP00000358287:D539N;ENSP00000402794:D200N;ENSP00000358286:D539N	ENSP00000251864:D539N	D	+	1	0	TDRD1	115960671	0.914000	0.31030	0.540000	0.28089	0.698000	0.40448	1.437000	0.34991	1.498000	0.48600	0.563000	0.77884	GAT		0.348	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			19	56	0	0	0	1	0	19	56				
ANGPTL3	27329	broad.mit.edu	37	1	63064454	63064454	+	Nonsense_Mutation	SNP	C	C	T	rs573428165		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:63064454C>T	ENST00000371129.3	+	2	663	c.583C>T	c.(583-585)Caa>Taa	p.Q195*	DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	195					acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						ACAGCATAGTCAAATAAAAGA	0.318													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16649	0.0		0.0	False		,,,				2504	0.0					ENST00000371129.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(583-585)Caa>Taa		angiopoietin-like 3							106.0	104.0	105.0					1																	63064454		2203	4299	6502	SO:0001587	stop_gained	27329				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity	g.chr1:63064454C>T	AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"""Fibrinogen C domain containing"""	491	protein-coding gene	gene with protein product	"""angiopoietin 5"""	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.583C>T	1.37:g.63064454C>T	ENSP00000360170:p.Gln195*					DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_Intron	p.Q195*	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN			2	663	+			195					A0JLS0|B1ALJ0|B2RCW1	Nonsense_Mutation	SNP	ENST00000371129.3	37	c.583C>T	CCDS622.1	.	.	.	.	.	.	.	.	.	.	C	32	5.108195	0.94292	.	.	ENSG00000132855	ENST00000371129	.	.	.	5.5	5.5	0.81552	.	0.112095	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	14.9282	0.70896	0.0:0.8572:0.1428:0.0	.	.	.	.	X	195	.	ENSP00000360170:Q195X	Q	+	1	0	ANGPTL3	62837042	0.850000	0.29656	0.966000	0.40874	0.848000	0.48234	1.432000	0.34936	2.748000	0.94277	0.655000	0.94253	CAA		0.318	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025344.1	NM_014495		12	57	0	0	0	1	0	12	57				
RAD51B	5890	broad.mit.edu	37	14	68352616	68352616	+	Silent	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr14:68352616C>T	ENST00000487270.1	+	6	531	c.483C>T	c.(481-483)ccC>ccT	p.P161P	RAD51B_ENST00000487861.1_Silent_p.P161P|RAD51B_ENST00000390683.3_Silent_p.P161P|RAD51B_ENST00000488612.1_Silent_p.P161P|RAD51B_ENST00000471583.1_Silent_p.P161P	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	161					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						CCCGTTTTCCCAGATATTTTA	0.363								Direct reversal of damage																														ENST00000487270.1																		HMGA2/RAD51B(11)	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(481-483)ccC>ccT	Direct reversal of damage	RAD51 paralog B							96.0	101.0	99.0					14																	68352616		2203	4299	6502	SO:0001819	synonymous_variant	5890				blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:68352616C>T	U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"""RAD51 (S. cerevisiae)-like 1"", ""RAD51-like 1 (S. cerevisiae)"", ""RAD51 homolog B (S. cerevisiae)"""	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.483C>T	14.37:g.68352616C>T						RAD51B_ENST00000488612.1_Silent_p.P161P|RAD51B_ENST00000390683.3_Silent_p.P161P|RAD51B_ENST00000487861.1_Silent_p.P161P|RAD51B_ENST00000471583.1_Silent_p.P161P	p.P161P	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN			6	531	+			161					O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Silent	SNP	ENST00000487270.1	37	c.483C>T	CCDS9789.1																																																																																				0.363	RAD51B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349063.1			34	233	0	0	0	1	0	34	233				
ETV3L	440695	broad.mit.edu	37	1	157068947	157068947	+	Silent	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:157068947C>T	ENST00000454449.2	-	2	566	c.282G>A	c.(280-282)ctG>ctA	p.L94L		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	94					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGGCCCGGCTCAGCTTGTCAT	0.582																																						ENST00000454449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(280-282)ctG>ctA		ets variant 3-like							43.0	46.0	45.0					1																	157068947		2203	4300	6503	SO:0001819	synonymous_variant	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157068947C>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.282G>A	1.37:g.157068947C>T							p.L94L	NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN			2	566	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	94						Silent	SNP	ENST00000454449.2	37	c.282G>A	CCDS30893.1																																																																																				0.582	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		20	75	0	0	0	1	0	20	75				
MSI1	4440	broad.mit.edu	37	12	120789176	120789176	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr12:120789176G>T	ENST00000257552.2	-	11	849	c.761C>A	c.(760-762)cCg>cAg	p.P254Q	MSI1_ENST00000546622.1_5'Flank	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	254					epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGGCGCTCGGGAGAGGGGT	0.562																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(760-762)cCg>cAg		musashi RNA-binding protein 1							40.0	41.0	41.0					12																	120789176		2203	4300	6503	SO:0001583	missense	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120789176G>T	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.761C>A	12.37:g.120789176G>T	ENSP00000257552:p.Pro254Gln						p.P254Q	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN			11	849	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		254					Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	ENST00000257552.2	37	c.761C>A	CCDS9196.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878124	0.51801	.	.	ENSG00000135097	ENST00000257552	T	0.26223	1.75	5.22	5.22	0.72569	.	0.079382	0.53938	D	0.000053	T	0.16642	0.0400	N	0.14661	0.345	0.47407	D	0.999418	P	0.42993	0.797	B	0.36335	0.222	T	0.03993	-1.0986	10	0.29301	T	0.29	.	19.3627	0.94446	0.0:0.0:1.0:0.0	.	254	O43347	MSI1H_HUMAN	Q	254	ENSP00000257552:P254Q	ENSP00000257552:P254Q	P	-	2	0	MSI1	119273559	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.772000	0.75001	2.894000	0.99253	0.655000	0.94253	CCG		0.562	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		3	31	1	0	1	1	1	3	31				
WNT5A	7474	broad.mit.edu	37	3	55508406	55508406	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr3:55508406G>A	ENST00000474267.1	-	5	1164	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	WNT5A_ENST00000264634.4_Missense_Mutation_p.R215C|WNT5A_ENST00000497027.1_Missense_Mutation_p.R200C			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	215					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|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)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		ATGAGGATGCGAGCACTCTCG	0.657																																						ENST00000474267.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13						c.(643-645)Cgc>Tgc		wingless-type MMTV integration site family, member 5A							24.0	31.0	28.0					3																	55508406		2182	4290	6472	SO:0001583	missense	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55508406G>A	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.643C>T	3.37:g.55508406G>A	ENSP00000417310:p.Arg215Cys					WNT5A_ENST00000497027.1_Missense_Mutation_p.R200C|WNT5A_ENST00000264634.4_Missense_Mutation_p.R215C	p.R215C			P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	5	1164	-			215					A8K4A4|Q6P278	Missense_Mutation	SNP	ENST00000474267.1	37	c.643C>T	CCDS46850.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664870	0.88251	.	.	ENSG00000114251	ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027;ENST00000482079	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	4.97	4.03	0.46877	.	0.113150	0.64402	D	0.000013	D	0.91449	0.7301	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.93695	0.7010	10	0.87932	D	0	.	13.211	0.59825	0.0:0.0:0.7317:0.2683	.	215	P41221	WNT5A_HUMAN	C	215;215;126;200;200	ENSP00000417310:R215C;ENSP00000264634:R215C;ENSP00000420104:R200C;ENSP00000418184:R200C	ENSP00000264634:R215C	R	-	1	0	WNT5A	55483446	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.307000	0.51888	2.456000	0.83038	0.650000	0.86243	CGC		0.657	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		17	13	0	0	0	1	0	17	13				
LOC101927209	101927209	broad.mit.edu	37	1	142714007	142714007	+	lincRNA	SNP	T	T	C	rs1694635		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:142714007T>C	ENST00000610091.1	-	0	1651																											GATATCCAACTGGAGAAAAAG	0.303																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142714007T>C																													1.37:g.142714007T>C														0	598	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.303	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	18	0	0	0	1	0	5	18				
AKR1B15	441282	broad.mit.edu	37	7	134261178	134261178	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr7:134261178C>A	ENST00000457545.2	+	9	1081	c.821C>A	c.(820-822)gCc>gAc	p.A274D	AKR1B15_ENST00000423958.1_Missense_Mutation_p.A246D	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	274							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						AAAACCACAGCCCAGGTACCA	0.458																																						ENST00000457545.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						c.(820-822)gCc>gAc		aldo-keto reductase family 1, member B15							60.0	67.0	65.0					7																	134261178		2203	4300	6503	SO:0001583	missense	441282						oxidoreductase activity	g.chr7:134261178C>A		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.821C>A	7.37:g.134261178C>A	ENSP00000389289:p.Ala274Asp					AKR1B15_ENST00000423958.1_Missense_Mutation_p.A246D	p.A274D	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN			9	1081	+			274					C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	c.821C>A	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914969	0.52546	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.24538	1.85;1.85	3.46	3.46	0.39613	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.63581	0.2523	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77611	-0.2523	9	0.87932	D	0	.	13.6815	0.62489	0.0:1.0:0.0:0.0	.	246;274	C9JRZ8-2;C9JRZ8	.;AK1BF_HUMAN	D	274;246	ENSP00000389289:A274D;ENSP00000397009:A246D	ENSP00000397009:A246D	A	+	2	0	AKR1B15	133911718	1.000000	0.71417	0.969000	0.41365	0.233000	0.25261	5.368000	0.66133	1.759000	0.51996	0.194000	0.17425	GCC		0.458	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			10	52	1	0	7.48243e-07	1	7.88149e-07	10	52				
RNF213	57674	broad.mit.edu	37	17	78320894	78320894	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr17:78320894C>T	ENST00000582970.1	+	29	8902	c.8759C>T	c.(8758-8760)tCa>tTa	p.S2920L	RNF213_ENST00000508628.2_Missense_Mutation_p.S2969L|RNF213_ENST00000336301.6_Missense_Mutation_p.S993L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2920					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATCTGCTCCTCAGACATCCTC	0.567																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(8758-8760)tCa>tTa		ring finger protein 213							60.0	54.0	56.0					17																	78320894		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78320894C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8759C>T	17.37:g.78320894C>T	ENSP00000464087:p.Ser2920Leu					RNF213_ENST00000508628.2_Missense_Mutation_p.S2969L|RNF213_ENST00000336301.6_Missense_Mutation_p.S993L	p.S2920L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	8902	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.8759C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663032	0.29515	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.28666	1.6	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000002	T	0.53077	0.1774	M	0.80982	2.52	0.48511	D	0.999665	P	0.51933	0.949	P	0.52343	0.696	T	0.57625	-0.7779	10	0.87932	D	0	.	20.093	0.97828	0.0:1.0:0.0:0.0	.	993	Q63HN8	RN213_HUMAN	L	2920;2969;993	ENSP00000338218:S993L	ENSP00000338218:S993L	S	+	2	0	RNF213	75935489	1.000000	0.71417	0.143000	0.22291	0.044000	0.14063	5.904000	0.69886	2.751000	0.94390	0.563000	0.77884	TCA		0.567	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		8	27	0	0	0	1	0	8	27				
PIWIL3	440822	broad.mit.edu	37	22	25121477	25121477	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr22:25121477T>C	ENST00000332271.5	-	17	2458	c.2042A>G	c.(2041-2043)tAc>tGc	p.Y681C	PIWIL3_ENST00000527701.1_Missense_Mutation_p.Y563C|PIWIL3_ENST00000533313.1_Missense_Mutation_p.Y563C|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	681	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACATTGAGAGTACCACCTGTT	0.413																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2041-2043)tAc>tGc		piwi-like RNA-mediated gene silencing 3							96.0	91.0	92.0					22																	25121477		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25121477T>C	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2042A>G	22.37:g.25121477T>C	ENSP00000330031:p.Tyr681Cys					PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.Y563C|PIWIL3_ENST00000533313.1_Missense_Mutation_p.Y563C	p.Y681C	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			17	2458	-			681			Piwi.			Missense_Mutation	SNP	ENST00000332271.5	37	c.2042A>G	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.876581	0.33162	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.15834	2.39;2.39;2.39	3.24	0.834	0.18880	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.263286	0.36972	N	0.002312	T	0.29223	0.0727	L	0.56396	1.775	0.31334	N	0.684436	D;P;D	0.89917	0.999;0.873;1.0	D;P;D	0.77004	0.971;0.733;0.989	T	0.15009	-1.0452	10	0.32370	T	0.25	-7.4686	6.797	0.23731	0.6622:0.0:0.0:0.3378	.	563;672;681	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	C	681;563;563	ENSP00000330031:Y681C;ENSP00000431843:Y563C;ENSP00000435718:Y563C	ENSP00000330031:Y681C	Y	-	2	0	PIWIL3	23451477	1.000000	0.71417	0.984000	0.44739	0.391000	0.30476	0.622000	0.24433	0.424000	0.26061	0.459000	0.35465	TAC		0.413	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		36	61	0	0	0	1	0	36	61				
CGNL1	84952	broad.mit.edu	37	15	57823951	57823951	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr15:57823951G>C	ENST00000281282.5	+	14	3343	c.3265G>C	c.(3265-3267)Gag>Cag	p.E1089Q	CTD-2515H24.4_ENST00000566990.1_lincRNA	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1089						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TTTGCTGTCTGAGAGGATCAG	0.443																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(3265-3267)Gag>Cag		cingulin-like 1							161.0	154.0	156.0					15																	57823951		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57823951G>C	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.3265G>C	15.37:g.57823951G>C	ENSP00000281282:p.Glu1089Gln						p.E1089Q	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	14	3343	+			1089					Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.3265G>C	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503807	0.85176	.	.	ENSG00000128849	ENST00000281282	D	0.83755	-1.76	5.53	5.53	0.82687	Myosin tail (1);	0.232983	0.30185	N	0.010214	D	0.90539	0.7035	M	0.83603	2.65	0.41152	D	0.986038	P	0.50528	0.936	P	0.56474	0.799	D	0.91095	0.4910	10	0.54805	T	0.06	-25.7451	19.4657	0.94939	0.0:0.0:1.0:0.0	.	1089	Q0VF96	CGNL1_HUMAN	Q	1089	ENSP00000281282:E1089Q	ENSP00000281282:E1089Q	E	+	1	0	CGNL1	55611243	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	6.410000	0.73294	2.579000	0.87056	0.563000	0.77884	GAG		0.443	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		17	60	0	0	0	1	0	17	60				
SHANK2	22941	broad.mit.edu	37	11	70332743	70332743	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr11:70332743C>T	ENST00000423696.2	-	15	2554	c.2518G>A	c.(2518-2520)Gca>Aca	p.A840T	SHANK2_ENST00000338508.4_Missense_Mutation_p.A1220T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A624T|SHANK2_ENST00000409161.1_Missense_Mutation_p.A623T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	840					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCGGAGAGTGCCAGGGCCAGC	0.637																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3658-3660)Gca>Aca		SH3 and multiple ankyrin repeat domains 2							40.0	48.0	45.0					11																	70332743		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332743C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2518G>A	11.37:g.70332743C>T	ENSP00000394536:p.Ala840Thr					SHANK2_ENST00000449833.2_Missense_Mutation_p.A624T|SHANK2_ENST00000409161.1_Missense_Mutation_p.A623T|SHANK2_ENST00000423696.2_Missense_Mutation_p.A840T	p.A1220T			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3657	-			840					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3658G>A		.	.	.	.	.	.	.	.	.	.	C	20.3	3.963994	0.74131	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16	4.88	4.88	0.63580	.	0.095699	0.64402	D	0.000001	T	0.79387	0.4437	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.83667	0.0164	10	0.87932	D	0	.	18.029	0.89277	0.0:1.0:0.0:0.0	.	840;1219;624	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	T	624;623;498;1220;840;858;843	ENSP00000399423:A624T;ENSP00000386491:A623T;ENSP00000402944:A498T;ENSP00000345193:A1220T;ENSP00000394536:A840T;ENSP00000294018:A843T	ENSP00000294018:A843T	A	-	1	0	SHANK2	70010391	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	7.290000	0.78711	2.243000	0.73865	0.561000	0.74099	GCA		0.637	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		6	460	0	0	0	1	0	6	460				
STKLD1	169436	broad.mit.edu	37	9	136249652	136249652	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr9:136249652G>A	ENST00000371957.3	+	3	294	c.187G>A	c.(187-189)Gat>Aat	p.D63N	C9orf96_ENST00000371955.1_De_novo_Start_OutOfFrame|C9orf96_ENST00000426926.2_Missense_Mutation_p.D63N|C9orf96_ENST00000468046.1_3'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		63	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGAATGCATGGATGACCATTA	0.493																																						ENST00000371955.1																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25								chromosome 9 open reading frame 96							276.0	234.0	248.0					9																	136249652		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136249652G>A																												ENST00000371957.3:c.187G>A	9.37:g.136249652G>A	ENSP00000361025:p.Asp63Asn					C9orf96_ENST00000371957.3_Missense_Mutation_p.D63N|C9orf96_ENST00000426926.2_Missense_Mutation_p.D63N|C9orf96_ENST00000468046.1_3'UTR				Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	0	248	+								Q5T8U8|Q6ZMP6|Q6ZMQ5	Translation_Start_Site	SNP	ENST00000371957.3	37		CCDS35169.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352752	0.61293	.	.	ENSG00000198870	ENST00000426926;ENST00000371957	T;T	0.18502	2.21;2.21	3.71	3.71	0.42584	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	U	0.000039	T	0.28267	0.0698	L	0.43152	1.355	0.80722	D	1	P	0.48911	0.917	P	0.57911	0.829	T	0.01748	-1.1282	10	0.46703	T	0.11	-20.0684	13.7934	0.63155	0.0:0.0:1.0:0.0	.	63	Q8NE28	SGK71_HUMAN	N	63	ENSP00000398807:D63N;ENSP00000361025:D63N	ENSP00000361025:D63N	D	+	1	0	C9orf96	135239473	1.000000	0.71417	0.438000	0.26821	0.518000	0.34316	4.585000	0.60977	2.020000	0.59435	0.163000	0.16589	GAT		0.493	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			33	110	0	0	0	1	0	33	110				
MCHR2	84539	broad.mit.edu	37	6	100395746	100395746	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:100395746C>G	ENST00000281806.2	-	3	598	c.284G>C	c.(283-285)cGa>cCa	p.R95P	MCHR2_ENST00000369212.2_Missense_Mutation_p.R95P	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTCTCCCCCTCGGGCCCATTG	0.488																																						ENST00000281806.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(283-285)cGa>cCa		melanin-concentrating hormone receptor 2							99.0	102.0	101.0					6																	100395746		2203	4300	6503	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100395746C>G	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.284G>C	6.37:g.100395746C>G	ENSP00000281806:p.Arg95Pro					MCHR2_ENST00000445970.1_Missense_Mutation_p.R95P|MCHR2_ENST00000369212.1_Missense_Mutation_p.R95P	p.R95P	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	3	598	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	95					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.284G>C	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	9.815	1.184109	0.21870	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.71934	-0.61;-0.61;-0.61	4.57	0.0436	0.14222	GPCR, rhodopsin-like superfamily (1);	0.365474	0.20851	N	0.084534	T	0.37679	0.1012	L	0.41492	1.28	0.20873	N	0.999835	B	0.20368	0.044	B	0.23852	0.049	T	0.37934	-0.9684	10	0.45353	T	0.12	.	8.1229	0.30982	0.0:0.5776:0.0:0.4224	.	95	Q969V1	MCHR2_HUMAN	P	95	ENSP00000403490:R95P;ENSP00000281806:R95P;ENSP00000358214:R95P	ENSP00000281806:R95P	R	-	2	0	MCHR2	100502467	0.000000	0.05858	0.328000	0.25416	0.920000	0.55202	-0.295000	0.08298	-0.392000	0.07751	0.650000	0.86243	CGA		0.488	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		29	104	0	0	0	1	0	29	104				
ABHD12	26090	broad.mit.edu	37	20	25284224	25284224	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr20:25284224C>A	ENST00000339157.5	-	11	1263	c.991G>T	c.(991-993)Gag>Tag	p.E331*	ABHD12_ENST00000376542.3_Nonsense_Mutation_p.E331*	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	331					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						GGGTCGTCCTCAGCGTGCAGG	0.617																																						ENST00000339157.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						c.(991-993)Gag>Tag		abhydrolase domain containing 12							104.0	72.0	83.0					20																	25284224		2203	4300	6503	SO:0001587	stop_gained	26090					integral to membrane	acylglycerol lipase activity	g.chr20:25284224C>A	AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"""Abhydrolase domain containing"""	15868	protein-coding gene	gene with protein product		613599	"""chromosome 20 open reading frame 22"""	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.991G>T	20.37:g.25284224C>A	ENSP00000341408:p.Glu331*					ABHD12_ENST00000376542.3_Nonsense_Mutation_p.E331*	p.E331*	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN			11	1263	-			331					A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Nonsense_Mutation	SNP	ENST00000339157.5	37	c.991G>T	CCDS42857.1	.	.	.	.	.	.	.	.	.	.	C	39	7.712512	0.98447	.	.	ENSG00000100997	ENST00000376542;ENST00000339157;ENST00000526543	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-6.8584	19.2216	0.93799	0.0:1.0:0.0:0.0	.	.	.	.	X	331;331;293	.	ENSP00000341408:E331X	E	-	1	0	ABHD12	25232224	1.000000	0.71417	0.974000	0.42286	0.987000	0.75469	7.242000	0.78210	2.941000	0.99782	0.655000	0.94253	GAG		0.617	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2	NM_015600		14	66	1	0	6.72482e-11	1	7.37863e-11	14	66				
SLC29A1	2030	broad.mit.edu	37	6	44197355	44197355	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:44197355G>C	ENST00000393841.1	+	5	632	c.141G>C	c.(139-141)caG>caC	p.Q47H	SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000313248.7_Missense_Mutation_p.Q126H|SLC29A1_ENST00000371755.3_Missense_Mutation_p.Q47H|SLC29A1_ENST00000371740.5_Missense_Mutation_p.Q47H|SLC29A1_ENST00000371708.1_Missense_Mutation_p.Q47H|SLC29A1_ENST00000393844.1_Missense_Mutation_p.Q47H|SLC29A1_ENST00000371731.1_Missense_Mutation_p.Q47H|SLC29A1_ENST00000371713.1_Missense_Mutation_p.Q47H|SLC29A1_ENST00000427851.2_Missense_Mutation_p.Q47H|SLC29A1_ENST00000371724.1_Missense_Mutation_p.Q47H	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	47					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	ACATGTCCCAGAATGTGTCCT	0.562																																						ENST00000393841.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17						c.(139-141)caG>caC		solute carrier family 29 (equilibrative nucleoside transporter), member 1	Troglitazone(DB00197)						102.0	98.0	100.0					6																	44197355		2203	4300	6503	SO:0001583	missense	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44197355G>C	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.141G>C	6.37:g.44197355G>C	ENSP00000377424:p.Gln47His					SLC29A1_ENST00000371713.1_Missense_Mutation_p.Q47H|SLC29A1_ENST00000371755.3_Missense_Mutation_p.Q47H|SLC29A1_ENST00000371724.1_Missense_Mutation_p.Q47H|SLC29A1_ENST00000371740.5_Missense_Mutation_p.Q47H|SLC29A1_ENST00000371731.1_Missense_Mutation_p.Q47H|SLC29A1_ENST00000393844.1_Missense_Mutation_p.Q47H|SLC29A1_ENST00000371708.1_Missense_Mutation_p.Q47H|SLC29A1_ENST00000313248.7_Missense_Mutation_p.Q126H|SLC29A1_ENST00000427851.2_Missense_Mutation_p.Q47H|SLC29A1_ENST00000472176.1_3'UTR	p.Q47H	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	632	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		47					B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	ENST00000393841.1	37	c.141G>C	CCDS4908.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383270	0.61845	.	.	ENSG00000112759	ENST00000544345;ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	T;T;T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.48	3.59	0.41128	.	0.828559	0.11255	N	0.583222	T	0.29652	0.0740	L	0.28274	0.84	0.31004	N	0.719979	B;B;B;B	0.15141	0.004;0.012;0.001;0.001	B;B;B;B	0.13407	0.005;0.009;0.002;0.001	T	0.12066	-1.0562	10	0.49607	T	0.09	-24.5684	10.0759	0.42360	0.0:0.1398:0.6951:0.1651	.	47;66;126;47	B7Z1J8;B7Z914;B3KQV7;Q99808	.;.;.;S29A1_HUMAN	H	66;47;126;47;47;47;47;47;47;47;47	ENSP00000377427:Q47H;ENSP00000319152:Q126H;ENSP00000392668:Q47H;ENSP00000360820:Q47H;ENSP00000360805:Q47H;ENSP00000360796:Q47H;ENSP00000377424:Q47H;ENSP00000360789:Q47H;ENSP00000360778:Q47H;ENSP00000360773:Q47H	ENSP00000319152:Q126H	Q	+	3	2	SLC29A1	44305333	0.630000	0.27155	0.438000	0.26821	0.986000	0.74619	0.518000	0.22847	0.579000	0.29504	0.563000	0.77884	CAG		0.562	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			12	61	0	0	0	1	0	12	61				
ACSL1	2180	broad.mit.edu	37	4	185701488	185701488	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr4:185701488C>G	ENST00000515030.1	-	5	800	c.475G>C	c.(475-477)Gag>Cag	p.E159Q	ACSL1_ENST00000454703.2_5'UTR|ACSL1_ENST00000281455.2_Missense_Mutation_p.E159Q|ACSL1_ENST00000437665.3_5'UTR|ACSL1_ENST00000507295.1_Intron|ACSL1_ENST00000504900.1_Missense_Mutation_p.E159Q|ACSL1_ENST00000513317.1_Missense_Mutation_p.E159Q|ACSL1_ENST00000504342.1_Missense_Mutation_p.E159Q			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	159					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GTTCATACCTCAGGTCTATTT	0.433																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(475-477)Gag>Cag		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						131.0	136.0	134.0					4																	185701488		2203	4300	6503	SO:0001583	missense	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185701488C>G	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.475G>C	4.37:g.185701488C>G	ENSP00000422607:p.Glu159Gln					ACSL1_ENST00000504342.1_Missense_Mutation_p.E159Q|ACSL1_ENST00000454703.2_5'UTR|ACSL1_ENST00000437665.3_5'UTR|ACSL1_ENST00000281455.2_Missense_Mutation_p.E159Q|ACSL1_ENST00000507295.1_Intron|ACSL1_ENST00000504900.1_Missense_Mutation_p.E159Q|ACSL1_ENST00000513317.1_Missense_Mutation_p.E159Q	p.E159Q			P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	5	800	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	159					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	c.475G>C	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418776	0.83559	.	.	ENSG00000151726	ENST00000515030;ENST00000281455;ENST00000504342;ENST00000513317;ENST00000504900	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.7	5.7	0.88788	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.78020	0.4218	M	0.87827	2.91	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	0.951;1.0;0.971	T	0.80303	-0.1439	10	0.59425	D	0.04	-28.5715	19.8411	0.96685	0.0:1.0:0.0:0.0	.	159;159;159	B7Z452;D6RER0;P33121	.;.;ACSL1_HUMAN	Q	159	ENSP00000422607:E159Q;ENSP00000281455:E159Q;ENSP00000425006:E159Q;ENSP00000426150:E159Q;ENSP00000424935:E159Q	ENSP00000281455:E159Q	E	-	1	0	ACSL1	185938482	1.000000	0.71417	0.996000	0.52242	0.571000	0.35966	5.614000	0.67695	2.683000	0.91414	0.655000	0.94253	GAG		0.433	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		5	187	0	0	0	1	0	5	187				
GGA1	26088	broad.mit.edu	37	22	38027078	38027078	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr22:38027078C>G	ENST00000343632.4	+	14	1886	c.1500C>G	c.(1498-1500)atC>atG	p.I500M	GGA1_ENST00000381756.5_Missense_Mutation_p.I517M|GGA1_ENST00000325180.8_Missense_Mutation_p.I413M|GGA1_ENST00000337437.4_Missense_Mutation_p.I467M|GGA1_ENST00000406772.1_Missense_Mutation_p.I427M	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	500	Unstructured hinge.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					TGGCCAGCATCACTGTGCCCC	0.667																																						ENST00000406772.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(1279-1281)atC>atG		golgi-associated, gamma adaptin ear containing, ARF binding protein 1							68.0	70.0	69.0					22																	38027078		2203	4300	6503	SO:0001583	missense	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38027078C>G	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.1500C>G	22.37:g.38027078C>G	ENSP00000341344:p.Ile500Met					GGA1_ENST00000337437.4_Missense_Mutation_p.I467M|GGA1_ENST00000343632.4_Missense_Mutation_p.I500M|GGA1_ENST00000381756.5_Missense_Mutation_p.I517M|GGA1_ENST00000325180.8_Missense_Mutation_p.I413M	p.I427M	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN			15	1933	+	Melanoma(58;0.0574)		500			Unstructured hinge.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	c.1281C>G	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767816	0.49574	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000325180;ENST00000337437;ENST00000406772	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	5.1	5.1	0.69264	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (1);	0.171037	0.51477	D	0.000094	T	0.32255	0.0823	M	0.64997	1.995	0.80722	D	1	B;B;P	0.38078	0.257;0.449;0.617	B;B;B	0.31337	0.128;0.07;0.128	T	0.21075	-1.0256	10	0.46703	T	0.11	-20.0339	18.1149	0.89549	0.0:1.0:0.0:0.0	.	517;413;500	Q6IC75;Q86YA9;Q9UJY5	.;.;GGA1_HUMAN	M	500;517;413;467;427	ENSP00000341344:I500M;ENSP00000371175:I517M;ENSP00000321288:I413M;ENSP00000338647:I467M;ENSP00000385287:I427M	ENSP00000321288:I413M	I	+	3	3	GGA1	36357024	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.640000	0.37186	2.385000	0.81259	0.603000	0.83216	ATC		0.667	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365		20	103	0	0	0	1	0	20	103				
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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"""		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(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	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	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	56,56,56,56,56,56,56	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	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	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.chr17:7577548C>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.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	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_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	p.G245S	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	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (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.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	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	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		32	64	0	0	0	1	0	32	64				
RYR2	6262	broad.mit.edu	37	1	237729947	237729947	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:237729947G>A	ENST00000366574.2	+	28	3612	c.3295G>A	c.(3295-3297)Gga>Aga	p.G1099R	RYR2_ENST00000360064.6_Missense_Mutation_p.G1097R|RYR2_ENST00000542537.1_Missense_Mutation_p.G1083R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1099	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGAAGGCCGGACGGTGGTA	0.552																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3295-3297)Gga>Aga		ryanodine receptor 2 (cardiac)							133.0	134.0	134.0					1																	237729947		1973	4146	6119	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237729947G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3295G>A	1.37:g.237729947G>A	ENSP00000355533:p.Gly1099Arg					RYR2_ENST00000542537.1_Missense_Mutation_p.G1083R|RYR2_ENST00000360064.6_Missense_Mutation_p.G1097R	p.G1099R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3612	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1099			4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3295G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569236	0.86439	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.92348	-3.02;-3.02;-3.02	5.29	5.29	0.74685	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000010	D	0.96645	0.8905	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.97217	0.9875	10	0.87932	D	0	.	18.9442	0.92615	0.0:0.0:1.0:0.0	.	1099	Q92736	RYR2_HUMAN	R	1099;1097;1083	ENSP00000355533:G1099R;ENSP00000353174:G1097R;ENSP00000443798:G1083R	ENSP00000353174:G1097R	G	+	1	0	RYR2	235796570	1.000000	0.71417	0.874000	0.34290	0.873000	0.50193	7.924000	0.87555	2.465000	0.83290	0.655000	0.94253	GGA		0.552	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	169	0	0	0	1	0	4	169				
SGK2	10110	broad.mit.edu	37	20	42213636	42213636	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr20:42213636G>A	ENST00000341458.4	+	12	1483	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	SGK2_ENST00000426287.1_Missense_Mutation_p.D388N|SGK2_ENST00000373100.1_Missense_Mutation_p.D362N|SGK2_ENST00000373092.3_Missense_Mutation_p.D362N|SGK2_ENST00000373077.1_Missense_Mutation_p.D361N|SGK2_ENST00000423407.3_Missense_Mutation_p.D362N	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	422	AGC-kinase C-terminal.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCCAGAGGATGATGACATCTT	0.507																																						ENST00000373100.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1084-1086)Gat>Aat		serum/glucocorticoid regulated kinase 2							96.0	94.0	95.0					20																	42213636		2203	4300	6503	SO:0001583	missense	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42213636G>A	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.1264G>A	20.37:g.42213636G>A	ENSP00000340608:p.Asp422Asn					SGK2_ENST00000373077.1_Missense_Mutation_p.D361N|SGK2_ENST00000373092.3_Missense_Mutation_p.D362N|SGK2_ENST00000423407.3_Missense_Mutation_p.D362N|SGK2_ENST00000426287.1_Missense_Mutation_p.D388N|SGK2_ENST00000341458.4_Missense_Mutation_p.D422N	p.D362N			Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		14	1544	+		Myeloproliferative disorder(115;0.00452)	422			AGC-kinase C-terminal.		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	c.1084G>A	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612385	0.28712	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T	0.72167	-0.62;-0.62;-0.61;-0.62;-0.63;-0.61	5.64	2.66	0.31614	AGC-kinase, C-terminal (1);	0.300736	0.41097	N	0.000956	T	0.64724	0.2624	L	0.60012	1.86	0.43421	D	0.995572	B;B	0.12013	0.005;0.004	B;B	0.11329	0.004;0.006	T	0.61554	-0.7039	10	0.72032	D	0.01	.	10.2264	0.43227	0.2193:0.0:0.7807:0.0	.	422;362	Q9HBY8;Q9HBY8-2	SGK2_HUMAN;.	N	362;362;361;362;422;388	ENSP00000362192:D362N;ENSP00000362184:D362N;ENSP00000362168:D361N;ENSP00000392795:D362N;ENSP00000340608:D422N;ENSP00000412214:D388N	ENSP00000340608:D422N	D	+	1	0	SGK2	41647050	1.000000	0.71417	0.011000	0.14972	0.002000	0.02628	4.864000	0.62990	0.427000	0.26145	-0.140000	0.14226	GAT		0.507	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			5	125	0	0	0	1	0	5	125				
SLC35F3	148641	broad.mit.edu	37	1	234454536	234454536	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:234454536G>C	ENST00000366617.3	+	5	1015	c.787G>C	c.(787-789)Gaa>Caa	p.E263Q	SLC35F3_ENST00000366618.3_Missense_Mutation_p.E332Q			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	263					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TAAGTTTGGAGAAGCCGCCTT	0.468																																						ENST00000366618.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(994-996)Gaa>Caa		solute carrier family 35, member F3							193.0	185.0	188.0					1																	234454536		2203	4300	6503	SO:0001583	missense	148641				transport	integral to membrane		g.chr1:234454536G>C		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.787G>C	1.37:g.234454536G>C	ENSP00000355576:p.Glu263Gln					SLC35F3_ENST00000366617.3_Missense_Mutation_p.E263Q	p.E332Q	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		6	1139	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	263					Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37	c.994G>C		.	.	.	.	.	.	.	.	.	.	G	17.26	3.343265	0.61073	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.60548	0.18;0.18	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.62732	0.2452	N	0.20401	0.57	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.55101	-0.8193	10	0.11485	T	0.65	-22.0526	19.8559	0.96758	0.0:0.0:1.0:0.0	.	263;332	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	Q	332;263	ENSP00000355577:E332Q;ENSP00000355576:E263Q	ENSP00000355576:E263Q	E	+	1	0	SLC35F3	232521159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.693000	0.91896	0.655000	0.94253	GAA		0.468	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		39	170	0	0	0	1	0	39	170				
CDH15	1013	broad.mit.edu	37	16	89261437	89261437	+	Silent	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:89261437C>T	ENST00000289746.2	+	14	2384	c.2319C>T	c.(2317-2319)ttC>ttT	p.F773F		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	773					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGCCCCGCTTCGCCCGGCTGG	0.672																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2317-2319)ttC>ttT		cadherin 15, type 1, M-cadherin (myotubule)							27.0	28.0	28.0					16																	89261437		2186	4288	6474	SO:0001819	synonymous_variant	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89261437C>T	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.2319C>T	16.37:g.89261437C>T							p.F773F	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	14	2384	+			773						Silent	SNP	ENST00000289746.2	37	c.2319C>T	CCDS10976.1																																																																																				0.672	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		6	18	0	0	0	1	0	6	18				
SLC8A2	6543	broad.mit.edu	37	19	47969076	47969076	+	Silent	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr19:47969076C>T	ENST00000236877.6	-	2	980	c.585G>A	c.(583-585)ctG>ctA	p.L195L	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	195					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AGAAGACTCTCAGGTGCTTGA	0.552																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(583-585)ctG>ctA		solute carrier family 8 (sodium/calcium exchanger), member 2							69.0	46.0	54.0					19																	47969076		2203	4300	6503	SO:0001819	synonymous_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47969076C>T	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.585G>A	19.37:g.47969076C>T						SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	p.L195L	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	2	980	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	195					B4DYQ9	Silent	SNP	ENST00000236877.6	37	c.585G>A	CCDS33065.1																																																																																				0.552	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			15	28	0	0	0	1	0	15	28				
ABHD2	11057	broad.mit.edu	37	15	89719083	89719083	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr15:89719083G>C	ENST00000352732.5	+	6	1099	c.579G>C	c.(577-579)aaG>aaC	p.K193N	ABHD2_ENST00000565973.1_Missense_Mutation_p.K193N|ABHD2_ENST00000355100.3_Missense_Mutation_p.K193N	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	193					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					ACTACATCAAGAAGACATATC	0.507																																					Colon(11;252 417 24570 33239 41878)	ENST00000352732.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(577-579)aaG>aaC		abhydrolase domain containing 2							174.0	140.0	152.0					15																	89719083		2200	4299	6499	SO:0001583	missense	11057					integral to membrane	carboxylesterase activity	g.chr15:89719083G>C	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.579G>C	15.37:g.89719083G>C	ENSP00000268129:p.Lys193Asn					ABHD2_ENST00000565973.1_Missense_Mutation_p.K193N|ABHD2_ENST00000355100.3_Missense_Mutation_p.K193N	p.K193N	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN			6	1099	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		193					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	c.579G>C	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149565	0.57151	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.62498	0.02;0.02	5.55	5.55	0.83447	Alpha/beta hydrolase fold-1 (1);	0.046220	0.85682	D	0.000000	T	0.68787	0.3039	L	0.53249	1.67	0.80722	D	1	P	0.41498	0.752	P	0.48524	0.58	T	0.65809	-0.6078	10	0.36615	T	0.2	-4.1201	19.5044	0.95110	0.0:0.0:1.0:0.0	.	193	P08910	ABHD2_HUMAN	N	193	ENSP00000268129:K193N;ENSP00000347217:K193N	ENSP00000268129:K193N	K	+	3	2	ABHD2	87520087	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.581000	0.46077	2.591000	0.87537	0.643000	0.83706	AAG		0.507	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			19	87	0	0	0	1	0	19	87				
R3HDM2	22864	broad.mit.edu	37	12	57662214	57662214	+	Silent	SNP	A	A	G			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr12:57662214A>G	ENST00000347140.3	-	18	2250	c.1860T>C	c.(1858-1860)aaT>aaC	p.N620N	R3HDM2_ENST00000358907.2_Silent_p.N620N|R3HDM2_ENST00000413953.2_Silent_p.N347N|R3HDM2_ENST00000546843.1_5'UTR|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000403821.2_Silent_p.N654N|R3HDM2_ENST00000402412.1_Silent_p.N634N|R3HDM2_ENST00000441731.2_Silent_p.N315N			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	620	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCTGGACCACATTTTGCGAGT	0.527																																						ENST00000402412.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1900-1902)aaT>aaC		R3H domain containing 2							81.0	70.0	74.0					12																	57662214		2203	4300	6503	SO:0001819	synonymous_variant	22864					nucleus	nucleic acid binding	g.chr12:57662214A>G	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1860T>C	12.37:g.57662214A>G						RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000413953.2_Silent_p.N347N|R3HDM2_ENST00000403821.2_Silent_p.N654N|R3HDM2_ENST00000358907.2_Silent_p.N620N|R3HDM2_ENST00000393811.2_Silent_p.N347N|R3HDM2_ENST00000347140.3_Silent_p.N620N|R3HDM2_ENST00000441731.2_Silent_p.N315N|R3HDM2_ENST00000546843.1_5'UTR	p.N634N			Q9Y2K5	R3HD2_HUMAN			18	2292	-			620			Gln-rich.		Q2M1T9|Q3ZCT5	Silent	SNP	ENST00000347140.3	37	c.1902T>C	CCDS8937.2																																																																																				0.527	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		19	55	0	0	0	1	0	19	55				
BRINP3	339479	broad.mit.edu	37	1	190067721	190067721	+	Silent	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:190067721G>A	ENST00000367462.3	-	8	1959	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	BRINP3_ENST00000534846.1_Silent_p.F474F	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	576					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.F576F(1)									GGCTGCCTCCGAAGGGATTGA	0.463																																						ENST00000367462.3																			1	Substitution - coding silent(1)	p.F576F(1)	lung(1)	NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1726-1728)ttC>ttT									83.0	89.0	87.0					1																	190067721		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190067721G>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1728C>T	1.37:g.190067721G>A						FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.F474F	p.F576F	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			8	1959	-	Prostate(682;0.198)		576					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.1728C>T	CCDS1373.1																																																																																				0.463	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		5	151	0	0	0	1	0	5	151				
ZFP90	146198	broad.mit.edu	37	16	68598490	68598490	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:68598490G>C	ENST00000570495.1	+	5	2092	c.1800G>C	c.(1798-1800)caG>caC	p.Q600H	ZFP90_ENST00000563169.2_Missense_Mutation_p.Q600H|ZFP90_ENST00000398253.2_Missense_Mutation_p.Q600H			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	600					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	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)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		ATGATCATCAGAGAATTCATA	0.408																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1798-1800)caG>caC		ZFP90 zinc finger protein							108.0	121.0	116.0					16																	68598490		2145	4283	6428	SO:0001583	missense	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598490G>C	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1800G>C	16.37:g.68598490G>C	ENSP00000460547:p.Gln600His					ZFP90_ENST00000563169.2_Missense_Mutation_p.Q600H|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Missense_Mutation_p.Q600H	p.Q600H			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	2092	+		Ovarian(137;0.192)	600					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	c.1800G>C	CCDS42183.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.12|14.12	2.439388|2.439388	0.43326|0.43326	.|.	.|.	ENSG00000184939|ENSG00000184939	ENST00000398253|ENST00000327567	T|.	0.07567|.	3.18|.	5.64|5.64	3.7|3.7	0.42460|0.42460	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.42562|0.42562	0.1208|0.1208	L|L	0.55103|0.55103	1.725|1.725	0.27189|0.27189	N|N	0.960456|0.960456	D|.	0.67145|.	0.996|.	D|.	0.69142|.	0.962|.	T|T	0.28744|0.28744	-1.0034|-1.0034	9|6	0.46703|0.33141	T|T	0.11|0.24	-9.5868|-9.5868	7.8765|7.8765	0.29597|0.29597	0.2503:0.0:0.7497:0.0|0.2503:0.0:0.7497:0.0	.|.	600|.	Q8TF47|.	ZFP90_HUMAN|.	H|T	600|73	ENSP00000381304:Q600H|.	ENSP00000381304:Q600H|ENSP00000329859:R73T	Q|R	+|+	3|2	2|0	ZFP90|ZFP90	67155991|67155991	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.387000|0.387000	0.20718|0.20718	0.874000|0.874000	0.35823|0.35823	0.555000|0.555000	0.69702|0.69702	CAG|AGA		0.408	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		5	292	0	0	0	1	0	5	292				
ZNF615	284370	broad.mit.edu	37	19	52496987	52496987	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr19:52496987G>A	ENST00000602063.1	-	6	1691	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	ZNF615_ENST00000598071.1_Nonsense_Mutation_p.R459*|ZNF615_ENST00000594083.1_Nonsense_Mutation_p.R459*|ZNF615_ENST00000391795.3_Nonsense_Mutation_p.R453*|ZNF615_ENST00000376716.5_Nonsense_Mutation_p.R448*			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	448					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)		GTATGTGTTCGCTGATGTCTG	0.443																																						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.(1342-1344)Cga>Tga		zinc finger protein 615							91.0	76.0	81.0					19																	52496987		2203	4300	6503	SO:0001587	stop_gained	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496987G>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.1342C>T	19.37:g.52496987G>A	ENSP00000473089:p.Arg448*					ZNF615_ENST00000594083.1_Nonsense_Mutation_p.R459*|ZNF615_ENST00000391795.3_Nonsense_Mutation_p.R453*|ZNF615_ENST00000376716.5_Nonsense_Mutation_p.R448*|ZNF615_ENST00000598071.1_Nonsense_Mutation_p.R459*	p.R448*			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1691	-		all_neural(266;0.117)	448					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Nonsense_Mutation	SNP	ENST00000602063.1	37	c.1342C>T	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895233	0.91962	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	.	.	.	2.87	1.67	0.24075	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.9063	0.13800	0.0:0.1935:0.4383:0.3682	.	.	.	.	X	448;458;453;458	.	ENSP00000347019:R458X	R	-	1	2	ZNF615	57188799	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	-0.445000	0.06845	1.586000	0.49944	0.585000	0.79938	CGA		0.443	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		6	61	0	0	0	1	0	6	61				
TDP1	55775	broad.mit.edu	37	14	90509416	90509416	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr14:90509416C>T	ENST00000335725.4	+	17	2006	c.1756C>T	c.(1756-1758)Cgg>Tgg	p.R586W	TDP1_ENST00000393454.2_Missense_Mutation_p.R586W|TDP1_ENST00000357382.3_Missense_Mutation_p.R347W|TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000555880.1_Silent_p.I549I	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	586					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TCCCCCAGATCGGCCATGGAT	0.418								Repair of DNA-protein crosslinks																														ENST00000335725.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25						c.(1756-1758)Cgg>Tgg	Repair of DNA-protein crosslinks	tyrosyl-DNA phosphodiesterase 1							113.0	104.0	107.0					14																	90509416		2203	4300	6503	SO:0001583	missense	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90509416C>T	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1756C>T	14.37:g.90509416C>T	ENSP00000337353:p.Arg586Trp					TDP1_ENST00000555880.1_Silent_p.I549I|TDP1_ENST00000393454.2_Missense_Mutation_p.R586W|TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000357382.3_Missense_Mutation_p.R347W	p.R586W	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	17	2006	+		all_cancers(154;0.185)	586					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	c.1756C>T	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738550	0.89573	.	.	ENSG00000042088	ENST00000393454;ENST00000335725;ENST00000357382	T;T;T	0.64618	-0.11;-0.11;-0.11	5.55	5.55	0.83447	.	0.119144	0.56097	D	0.000022	T	0.74160	0.3680	M	0.73598	2.24	0.53688	D	0.999979	D;D	0.76494	0.999;0.999	P;P	0.56088	0.713;0.791	T	0.77536	-0.2551	10	0.72032	D	0.01	-16.4616	15.0181	0.71605	0.0:1.0:0.0:0.0	.	347;586	Q86TV8;Q9NUW8	.;TYDP1_HUMAN	W	586;586;347	ENSP00000377099:R586W;ENSP00000337353:R586W;ENSP00000349952:R347W	ENSP00000337353:R586W	R	+	1	2	TDP1	89579169	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.791000	0.62460	2.615000	0.88500	0.650000	0.86243	CGG		0.418	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		26	60	0	0	0	1	0	26	60				
MTCL1	23255	broad.mit.edu	37	18	8819162	8819162	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr18:8819162G>A	ENST00000306329.11	+	11	4018	c.4018G>A	c.(4018-4020)Gag>Aag	p.E1340K	SOGA2_ENST00000518815.1_Missense_Mutation_p.E346K|SOGA2_ENST00000359865.3_Missense_Mutation_p.E1021K|SOGA2_ENST00000306285.7_Missense_Mutation_p.E346K|SOGA2_ENST00000400050.3_Missense_Mutation_p.E980K|SOGA2_ENST00000517570.1_Missense_Mutation_p.E980K																							CTCGGCCAGTGAGAATCTCTA	0.617																																						ENST00000359865.3																			0											c.(3061-3063)Gag>Aag		SOGA family member 2							55.0	53.0	54.0					18																	8819162		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8819162G>A																												ENST00000306329.11:c.4018G>A	18.37:g.8819162G>A	ENSP00000305027:p.Glu1340Lys					SOGA2_ENST00000517570.1_Missense_Mutation_p.E980K|SOGA2_ENST00000306329.11_Missense_Mutation_p.E1340K|SOGA2_ENST00000400050.3_Missense_Mutation_p.E980K|SOGA2_ENST00000518815.1_Missense_Mutation_p.E346K|SOGA2_ENST00000306285.7_Missense_Mutation_p.E346K	p.E1021K	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			13	3203	+			1331						Missense_Mutation	SNP	ENST00000306329.11	37	c.3061G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.780079	0.96929	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.62	5.62	0.85841	.	0.000000	0.49916	D	0.000124	T	0.65512	0.2698	M	0.71581	2.175	0.58432	D	0.999995	D;D	0.76494	0.997;0.999	D;D	0.75020	0.985;0.972	T	0.62329	-0.6877	10	0.42905	T	0.14	-39.4947	20.0247	0.97519	0.0:0.0:1.0:0.0	.	1331;1021	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	K	1042;980;1021;980;346	ENSP00000429556:E980K;ENSP00000352927:E1021K;ENSP00000382924:E980K;ENSP00000303670:E346K	ENSP00000303670:E346K	E	+	1	0	CCDC165	8809162	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.977000	0.88081	2.804000	0.96469	0.655000	0.94253	GAG		0.617	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			12	72	0	0	0	1	0	12	72				
EEF1G	1937	broad.mit.edu	37	11	62340160	62340160	+	Nonsense_Mutation	SNP	G	G	A	rs376492856		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr11:62340160G>A	ENST00000329251.4	-	2	197	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	EEF1G_ENST00000532986.1_5'UTR|MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Nonsense_Mutation_p.Q73*	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	23	GST N-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCGCTGTACTGAGCAGCGATG	0.547																																						ENST00000378019.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(217-219)Cag>Tag		eukaryotic translation elongation factor 1 gamma							63.0	65.0	64.0					11																	62340160		1929	4133	6062	SO:0001587	stop_gained	1937				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr11:62340160G>A	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.67C>T	11.37:g.62340160G>A	ENSP00000331901:p.Gln23*					MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000532986.1_5'UTR|EEF1G_ENST00000329251.4_Nonsense_Mutation_p.Q23*	p.Q73*			P26641	EF1G_HUMAN			2	307	-			23			GST N-terminal.		B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Nonsense_Mutation	SNP	ENST00000329251.4	37	c.217C>T	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	G	37	6.256573	0.97417	.	.	ENSG00000254772	ENST00000329251;ENST00000378019	.	.	.	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	14.7942	0.69865	0.0:0.0:1.0:0.0	.	.	.	.	X	23;73	.	ENSP00000331901:Q23X	Q	-	1	0	EEF1G	62096736	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.392000	0.79840	2.161000	0.67846	0.650000	0.86243	CAG		0.547	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	NM_001404		17	104	0	0	0	1	0	17	104				
MYPN	84665	broad.mit.edu	37	10	69934314	69934314	+	Missense_Mutation	SNP	G	G	T	rs372903698		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr10:69934314G>T	ENST00000358913.5	+	11	2953	c.2465G>T	c.(2464-2466)cGg>cTg	p.R822L	MYPN_ENST00000540630.1_Missense_Mutation_p.R822L|MYPN_ENST00000354393.2_Missense_Mutation_p.R547L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	822	Pro-rich.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.R822Q(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CCTACCAGCCGGATTCAGAAC	0.557																																						ENST00000358913.5																			1	Substitution - Missense(1)	p.R822Q(1)	skin(1)	breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(2464-2466)cGg>cTg		myopalladin							113.0	107.0	109.0					10																	69934314		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69934314G>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2465G>T	10.37:g.69934314G>T	ENSP00000351790:p.Arg822Leu					MYPN_ENST00000354393.2_Missense_Mutation_p.R547L|MYPN_ENST00000540630.1_Missense_Mutation_p.R822L	p.R822L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			11	2953	+			822			Pro-rich.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.2465G>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677853	0.68042	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.59772	0.24;0.34;0.32	5.86	4.96	0.65561	.	0.281026	0.35378	N	0.003250	T	0.42607	0.1210	N	0.22421	0.69	0.30330	N	0.786731	P;P;P	0.47191	0.891;0.891;0.719	B;B;B	0.38712	0.28;0.28;0.14	T	0.42982	-0.9419	9	.	.	.	.	15.1937	0.73067	0.0676:0.0:0.9324:0.0	.	822;547;822	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	L	547;547;822;822	ENSP00000346369:R547L;ENSP00000351790:R822L;ENSP00000441668:R822L	.	R	+	2	0	MYPN	69604320	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.428000	0.73383	1.484000	0.48361	0.655000	0.94253	CGG		0.557	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		11	47	1	0	3.86212e-05	1	3.98833e-05	11	47				
MTNR1A	4543	broad.mit.edu	37	4	187455656	187455656	+	Silent	SNP	C	C	T	rs149418383	byFrequency	TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr4:187455656C>T	ENST00000307161.5	-	2	441	c.240G>A	c.(238-240)ccG>ccA	p.P80P	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	80					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CCAACGGGTACGGATAAATGG	0.502													C|||	3	0.000599042	0.0008	0.0	5008	,	,		19849	0.002		0.0	False		,,,				2504	0.0					ENST00000307161.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14						c.(238-240)ccG>ccA		melatonin receptor 1A	Melatonin(DB01065)|Ramelteon(DB00980)	C		2,4404	4.2+/-10.8	0,2,2201	67.0	66.0	67.0		240	-10.0	0.1	4	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MTNR1A	NM_005958.3		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		80/351	187455656	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	4543				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	g.chr4:187455656C>T		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.240G>A	4.37:g.187455656C>T						RP11-215A19.2_ENST00000509111.1_Intron	p.P80P	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	2	441	-		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)	80					A0AVC5|B0M0L2	Silent	SNP	ENST00000307161.5	37	c.240G>A	CCDS3848.1																																																																																				0.502	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			10	54	0	0	0	1	0	10	54				
DMXL2	23312	broad.mit.edu	37	15	51772275	51772275	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr15:51772275G>A	ENST00000251076.5	-	25	6913	c.6626C>T	c.(6625-6627)tCa>tTa	p.S2209L	DMXL2_ENST00000543779.2_Missense_Mutation_p.S2209L|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.S1573L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2209						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AATACTTGCTGAAAGCAGAGG	0.363																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(6625-6627)tCa>tTa		Dmx-like 2							196.0	191.0	192.0					15																	51772275		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51772275G>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6626C>T	15.37:g.51772275G>A	ENSP00000251076:p.Ser2209Leu					DMXL2_ENST00000543779.2_Missense_Mutation_p.S2209L|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.S1573L	p.S2209L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	25	6913	-			2209					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.6626C>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319724	0.81469	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.78364	-1.17;-1.17;-1.17	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.83704	0.5312	L	0.49126	1.545	0.80722	D	1	D;D;D;B	0.63880	0.989;0.987;0.993;0.435	D;D;D;B	0.72338	0.91;0.942;0.977;0.097	T	0.76173	-0.3056	10	0.07030	T	0.85	.	20.0367	0.97561	0.0:0.0:1.0:0.0	.	2209;1573;2209;2209	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	L	2209;2209;1573	ENSP00000251076:S2209L;ENSP00000441858:S2209L;ENSP00000400855:S1573L	ENSP00000251076:S2209L	S	-	2	0	DMXL2	49559567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.417000	0.73337	2.818000	0.97014	0.591000	0.81541	TCA		0.363	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		38	135	0	0	0	1	0	38	135				
ITGA8	8516	broad.mit.edu	37	10	15647732	15647732	+	Missense_Mutation	SNP	G	G	A	rs150148399	byFrequency	TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr10:15647732G>A	ENST00000378076.3	-	19	2314	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	ITGA8_ENST00000477064.1_5'Flank	NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	654					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CGGTCTAGCCGACAGCTTCAA	0.388													G|||	2	0.000399361	0.0	0.0	5008	,	,		21803	0.001		0.0	False		,,,				2504	0.001					ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(1960-1962)tCg>tTg		integrin, alpha 8		G	LEU/SER	0,4406		0,0,2203	103.0	91.0	95.0		1961	3.6	0.9	10	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGA8	NM_003638.1	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	654/1064	15647732	1,13005	2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15647732G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1961C>T	10.37:g.15647732G>A	ENSP00000367316:p.Ser654Leu						p.S654L	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			19	2314	-			654					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1961C>T	CCDS31155.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.1	4.102635	0.76983	0.0	1.16E-4	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.52754	0.65	5.51	3.63	0.41609	Integrin alpha-2 (1);	0.109041	0.64402	D	0.000004	T	0.56202	0.1969	M	0.80746	2.51	0.50313	D	0.999867	P;P	0.47034	0.865;0.889	B;P	0.47786	0.422;0.557	T	0.59915	-0.7364	10	0.59425	D	0.04	.	11.0103	0.47659	0.0697:0.1299:0.8004:0.0	.	639;654	F5H818;P53708	.;ITA8_HUMAN	L	654;639	ENSP00000367316:S654L	ENSP00000367316:S654L	S	-	2	0	ITGA8	15687738	1.000000	0.71417	0.893000	0.35052	0.923000	0.55619	6.672000	0.74477	0.682000	0.31407	-0.136000	0.14681	TCG		0.388	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		12	60	0	0	0	1	0	12	60				
ACO2	50	broad.mit.edu	37	22	41918852	41918852	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr22:41918852C>T	ENST00000216254.4	+	10	1179	c.1157C>T	c.(1156-1158)aCc>aTc	p.T386I	ACO2_ENST00000396512.3_Missense_Mutation_p.T411I	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	386					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						GGTAGCTGCACCAATTCAAGC	0.542																																						ENST00000396512.3																			0				breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						c.(1231-1233)aCc>aTc		aconitase 2, mitochondrial							77.0	70.0	72.0					22																	41918852		2203	4300	6503	SO:0001583	missense	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41918852C>T	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.1157C>T	22.37:g.41918852C>T	ENSP00000216254:p.Thr386Ile					ACO2_ENST00000216254.4_Missense_Mutation_p.T386I	p.T411I			Q99798	ACON_HUMAN			10	1249	+			386					O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	ENST00000216254.4	37	c.1232C>T	CCDS14017.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017771	0.93404	.	.	ENSG00000100412	ENST00000541439;ENST00000544234;ENST00000216254;ENST00000396512	T;T	0.64085	-0.08;-0.08	5.93	5.93	0.95920	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (3);	0.000000	0.85682	D	0.000000	D	0.90728	0.7090	H	0.99948	5.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94767	0.7941	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	411;386	A2A274;Q99798	.;ACON_HUMAN	I	107;367;386;411	ENSP00000216254:T386I;ENSP00000379769:T411I	ENSP00000216254:T386I	T	+	2	0	ACO2	40248798	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	ACC		0.542	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098		7	48	0	0	0	1	0	7	48				
TTLL2	83887	broad.mit.edu	37	6	167753961	167753961	+	Silent	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:167753961C>T	ENST00000239587.5	+	3	661	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	191	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATACCAAGTTCGTGGCTGAAT	0.498																																						ENST00000239587.5																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(571-573)ttC>ttT		tubulin tyrosine ligase-like family, member 2							109.0	106.0	107.0					6																	167753961		2203	4300	6503	SO:0001819	synonymous_variant	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167753961C>T	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.573C>T	6.37:g.167753961C>T							p.F191F	NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	661	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	191			TTL.		B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	ENST00000239587.5	37	c.573C>T	CCDS5301.1																																																																																				0.498	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		22	89	0	0	0	1	0	22	89				
ARHGEF2	9181	broad.mit.edu	37	1	155922435	155922435	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:155922435C>G	ENST00000361247.4	-	15	2067	c.1968G>C	c.(1966-1968)caG>caC	p.Q656H	ARHGEF2_ENST00000313695.7_Missense_Mutation_p.Q628H|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.Q701H|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.Q657H|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.Q655H|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.Q628H	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	656					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGATGGCATCCTGCAGCAGCC	0.617																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(1882-1884)caG>caC		Rho/Rac guanine nucleotide exchange factor (GEF) 2							42.0	44.0	43.0					1																	155922435		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155922435C>G	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1968G>C	1.37:g.155922435C>G	ENSP00000354837:p.Gln656His					ARHGEF2_ENST00000361247.4_Missense_Mutation_p.Q656H|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.Q655H|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.Q657H|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.Q628H	p.Q628H			Q92974	ARHG2_HUMAN			19	2354	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		656					D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1884G>C	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078988	0.36662	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.64085	-0.08;0.05;0.04;-0.08;-0.08	5.14	1.11	0.20524	.	0.158846	0.29775	N	0.011227	T	0.22936	0.0554	N	0.25647	0.755	0.24479	N	0.994358	B;B;B	0.24368	0.001;0.102;0.0	B;B;B	0.24541	0.001;0.054;0.002	T	0.16808	-1.0390	10	0.52906	T	0.07	-23.0599	5.0734	0.14618	0.0:0.477:0.2864:0.2366	.	700;656;655	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	H	628;656;657;628;655	ENSP00000315325:Q628H;ENSP00000354837:Q656H;ENSP00000357298:Q657H;ENSP00000357299:Q628H;ENSP00000314787:Q655H	ENSP00000314787:Q655H	Q	-	3	2	ARHGEF2	154189059	0.142000	0.22610	0.999000	0.59377	0.988000	0.76386	-0.391000	0.07323	0.118000	0.18165	-0.175000	0.13238	CAG		0.617	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		7	38	0	0	0	1	0	7	38				
ZFP90	146198	broad.mit.edu	37	16	68598406	68598406	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:68598406G>C	ENST00000570495.1	+	5	2008	c.1716G>C	c.(1714-1716)gaG>gaC	p.E572D	ZFP90_ENST00000563169.2_Missense_Mutation_p.E572D|ZFP90_ENST00000398253.2_Missense_Mutation_p.E572D			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	572					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	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)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TTCAGCATGAGAGAACTCATA	0.428																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1714-1716)gaG>gaC		ZFP90 zinc finger protein							100.0	114.0	110.0					16																	68598406		2189	4297	6486	SO:0001583	missense	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598406G>C	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1716G>C	16.37:g.68598406G>C	ENSP00000460547:p.Glu572Asp					ZFP90_ENST00000563169.2_Missense_Mutation_p.E572D|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Missense_Mutation_p.E572D	p.E572D			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	2008	+		Ovarian(137;0.192)	572					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	c.1716G>C	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556705	0.65425	.	.	ENSG00000184939	ENST00000398253	T	0.18502	2.21	5.97	5.01	0.66863	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23846	0.0577	L	0.55990	1.75	0.29328	N	0.866888	P	0.52692	0.955	P	0.49085	0.6	T	0.14062	-1.0486	9	0.87932	D	0	-12.1166	8.4866	0.33076	0.1754:0.0:0.8246:0.0	.	572	Q8TF47	ZFP90_HUMAN	D	572	ENSP00000381304:E572D	ENSP00000381304:E572D	E	+	3	2	ZFP90	67155907	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.078000	0.41567	1.509000	0.48786	0.561000	0.74099	GAG		0.428	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		6	248	0	0	0	1	0	6	248				
SLC35G3	146861	broad.mit.edu	37	17	33520540	33520540	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr17:33520540C>T	ENST00000297307.5	-	1	872	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	263						integral component of membrane (GO:0016021)		p.A263T(1)									GAGACCAAGGCGAGGATCCCC	0.627																																						ENST00000297307.5																			1	Substitution - Missense(1)	p.A263T(1)	breast(1)								c.(787-789)Gcc>Acc		solute carrier family 35, member G3							122.0	111.0	115.0					17																	33520540		2203	4296	6499	SO:0001583	missense	146861					integral to membrane		g.chr17:33520540C>T	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.787G>A	17.37:g.33520540C>T	ENSP00000297307:p.Ala263Thr						p.A263T	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	872	-			263					B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.787G>A	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	7.376	0.627836	0.14257	.	.	ENSG00000164729	ENST00000297307	T	0.67171	-0.25	.	.	.	.	0.000000	0.44285	D	0.000479	T	0.50599	0.1625	L	0.51422	1.61	0.31569	N	0.656615	B	0.18863	0.031	B	0.14578	0.011	T	0.38672	-0.9650	9	0.31617	T	0.26	-2.6207	2.6646	0.05037	0.0:0.5037:0.0:0.4962	.	263	Q8N808	S35G3_HUMAN	T	263	ENSP00000297307:A263T	ENSP00000297307:A263T	A	-	1	0	SLC35G3	30544653	0.996000	0.38824	0.256000	0.24389	0.257000	0.26127	0.721000	0.25911	0.064000	0.16427	0.064000	0.15345	GCC		0.627	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		5	130	0	0	0	1	0	5	130				
MAP6	4135	broad.mit.edu	37	11	75298484	75298484	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr11:75298484G>T	ENST00000304771.3	-	4	2812	c.2062C>A	c.(2062-2064)Cca>Aca	p.P688T	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.P359T|MAP6_ENST00000526689.1_5'Flank	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	688	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GCATGCTCTGGGACTACAACA	0.493																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	ENST00000304771.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2062-2064)Cca>Aca		microtubule-associated protein 6							183.0	174.0	177.0					11																	75298484		2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75298484G>T	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.2062C>A	11.37:g.75298484G>T	ENSP00000307093:p.Pro688Thr					MAP6_ENST00000526740.1_Missense_Mutation_p.P359T|CTD-2530H12.4_ENST00000527803.1_RNA	p.P688T	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN			4	2812	-	Ovarian(111;0.11)		688			Pro-rich.		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.2062C>A	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268848	0.40095	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.39592	1.07	4.92	0.908	0.19326	.	0.411860	0.21108	N	0.080024	T	0.28797	0.0714	L	0.47716	1.5	0.22479	N	0.999068	B	0.24721	0.11	B	0.24541	0.054	T	0.13098	-1.0522	10	0.24483	T	0.36	-0.1075	4.7355	0.12986	0.2606:0.0:0.5837:0.1557	.	688	Q96JE9	MAP6_HUMAN	T	688;359;359	ENSP00000307093:P688T	ENSP00000307093:P688T	P	-	1	0	MAP6	74976132	0.000000	0.05858	0.029000	0.17559	0.060000	0.15804	-0.233000	0.09041	0.328000	0.23435	0.655000	0.94253	CCA		0.493	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		26	332	1	0	2.79863e-10	1	3.02866e-10	26	332				
GMDS	2762	broad.mit.edu	37	6	1726714	1726714	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:1726714C>T	ENST00000380815.4	-	9	1192	c.923G>A	c.(922-924)aGa>aAa	p.R308K	GMDS_ENST00000530927.1_Missense_Mutation_p.R278K	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	308					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		CTCTTTACATCTGCCCACTTC	0.488																																						ENST00000380815.4																		GMDS/PDE8B(2)	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21						c.(922-924)aGa>aAa		GDP-mannose 4,6-dehydratase							251.0	220.0	231.0					6																	1726714		2203	4300	6503	SO:0001583	missense	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:1726714C>T	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.923G>A	6.37:g.1726714C>T	ENSP00000370194:p.Arg308Lys					GMDS_ENST00000530927.1_Missense_Mutation_p.R278K	p.R308K	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	9	1192	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	308					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	c.923G>A	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.507733	0.44558	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	.	.	.	5.55	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.22936	0.0554	N	0.11154	0.105	0.54753	D	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.04946	-1.0916	9	0.25751	T	0.34	-16.963	14.7941	0.69865	0.0:0.9295:0.0:0.0705	.	308	O60547	GMDS_HUMAN	K	278;308	.	ENSP00000370194:R308K	R	-	2	0	GMDS	1671713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.002000	0.57053	2.620000	0.88729	0.563000	0.77884	AGA		0.488	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			12	122	0	0	0	1	0	12	122				
LAMP1	3916	broad.mit.edu	37	13	113975980	113975980	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr13:113975980C>T	ENST00000332556.4	+	8	1246	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	LAMP1_ENST00000397181.3_Missense_Mutation_p.S298L	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	351	Second lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			AAGGCGTTTTCAGTCAATATA	0.577																																						ENST00000332556.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16						c.(1051-1053)tCa>tTa		lysosomal-associated membrane protein 1							102.0	113.0	109.0					13																	113975980		2118	4214	6332	SO:0001583	missense	3916					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction		g.chr13:113975980C>T	J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"""CD molecules"""	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.1052C>T	13.37:g.113975980C>T	ENSP00000333298:p.Ser351Leu					LAMP1_ENST00000397181.3_Missense_Mutation_p.S298L	p.S351L	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		8	1246	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	351			Second lumenal domain.		B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Missense_Mutation	SNP	ENST00000332556.4	37	c.1052C>T	CCDS41909.1	.	.	.	.	.	.	.	.	.	.	C	9.614	1.132097	0.21041	.	.	ENSG00000185896	ENST00000332556;ENST00000397181	T;T	0.34472	1.36;1.36	5.27	3.54	0.40534	.	0.217313	0.47852	D	0.000203	T	0.33876	0.0878	M	0.62723	1.935	0.09310	N	0.999997	B;B	0.31026	0.304;0.294	B;B	0.31101	0.11;0.124	T	0.17992	-1.0351	10	0.37606	T	0.19	-14.0828	9.9097	0.41397	0.0:0.7607:0.0:0.2393	.	298;351	B4DWL3;P11279	.;LAMP1_HUMAN	L	351;298	ENSP00000333298:S351L;ENSP00000415354:S298L	ENSP00000333298:S351L	S	+	2	0	LAMP1	113023981	0.244000	0.23889	0.005000	0.12908	0.021000	0.10359	2.575000	0.46025	0.614000	0.30107	0.549000	0.68633	TCA		0.577	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2			23	117	0	0	0	1	0	23	117				
MOG	4340	broad.mit.edu	37	6	29627131	29627131	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:29627131C>T	ENST00000376917.3	+	2	353	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	MOG_ENST00000533330.2_Missense_Mutation_p.R42W|MOG_ENST00000376894.4_Missense_Mutation_p.R42W|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376888.2_Intron|MOG_ENST00000494692.1_Missense_Mutation_p.R42W|MOG_ENST00000396701.2_Missense_Mutation_p.R42W|MOG_ENST00000483013.1_Intron|MOG_ENST00000376902.3_Missense_Mutation_p.R42W|MOG_ENST00000416766.2_Missense_Mutation_p.R42W|MOG_ENST00000431798.2_Missense_Mutation_p.R42W|MOG_ENST00000396704.3_Missense_Mutation_p.R42W|MOG_ENST00000376891.4_Missense_Mutation_p.R42W|MOG_ENST00000490427.1_Intron|MOG_ENST00000376898.3_Missense_Mutation_p.R42W	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	42	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						ACACCCTATCCGGGCTCTGGT	0.547																																						ENST00000376894.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(124-126)Cgg>Tgg		myelin oligodendrocyte glycoprotein							202.0	222.0	215.0					6																	29627131		1511	2709	4220	SO:0001583	missense	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627131C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.124C>T	6.37:g.29627131C>T	ENSP00000366115:p.Arg42Trp					MOG_ENST00000396701.2_Missense_Mutation_p.R42W|MOG_ENST00000376891.4_Missense_Mutation_p.R42W|MOG_ENST00000431798.2_Missense_Mutation_p.R42W|MOG_ENST00000376902.3_Missense_Mutation_p.R42W|MOG_ENST00000416766.2_Missense_Mutation_p.R42W|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396704.3_Missense_Mutation_p.R42W|MOG_ENST00000483013.1_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000376898.3_Missense_Mutation_p.R42W|MOG_ENST00000376917.3_Missense_Mutation_p.R42W|MOG_ENST00000533330.2_Missense_Mutation_p.R42W|MOG_ENST00000494692.1_Missense_Mutation_p.R42W	p.R42W			Q16653	MOG_HUMAN			2	242	+			42			Ig-like V-type.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.124C>T	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867135	0.51588	.	.	ENSG00000204655	ENST00000376917;ENST00000376902;ENST00000533330;ENST00000376894;ENST00000416766;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.87	3.98	0.46160	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.252731	0.28706	N	0.014406	T	0.58836	0.2150	L	0.31578	0.945	0.35673	D	0.813469	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;1.0;0.998	P;P;P;P;P;P;P;P;D;P	0.65573	0.87;0.732;0.732;0.883;0.786;0.786;0.87;0.7;0.936;0.842	T	0.66176	-0.5989	10	0.66056	D	0.02	.	9.1396	0.36894	0.1551:0.5447:0.3002:0.0	.	42;42;42;42;42;42;42;42;42;42	C9JTE0;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-10;Q5SUK5	.;.;.;.;.;.;MOG_HUMAN;.;.;.	W	42	ENSP00000366115:R42W;ENSP00000366100:R42W;ENSP00000431709:R42W;ENSP00000366091:R42W;ENSP00000409394:R42W;ENSP00000366088:R42W;ENSP00000366095:R42W;ENSP00000410866:R42W;ENSP00000379929:R42W;ENSP00000417405:R42W;ENSP00000379932:R42W	ENSP00000366088:R42W	R	+	1	2	MOG	29735110	0.995000	0.38212	0.995000	0.50966	0.408000	0.30992	1.355000	0.34068	1.459000	0.47892	0.655000	0.94253	CGG		0.547	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		44	252	0	0	0	1	0	44	252				
LPAR1	1902	broad.mit.edu	37	9	113703978	113703978	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr9:113703978C>T	ENST00000374431.3	-	4	899	c.516G>A	c.(514-516)tgG>tgA	p.W172*	LPAR1_ENST00000538760.1_Nonsense_Mutation_p.W173*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.W173*|LPAR1_ENST00000358883.4_Nonsense_Mutation_p.W172*|LPAR1_ENST00000374430.2_Nonsense_Mutation_p.W172*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	172					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TGGCCATAGTCCAGATGACCA	0.502																																					NSCLC(115;661 2323 9836 34256)	ENST00000374431.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						c.(514-516)tgG>tgA		lysophosphatidic acid receptor 1							141.0	128.0	132.0					9																	113703978		2203	4300	6503	SO:0001587	stop_gained	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113703978C>T	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.516G>A	9.37:g.113703978C>T	ENSP00000363553:p.Trp172*					LPAR1_ENST00000538760.1_Nonsense_Mutation_p.W173*|LPAR1_ENST00000358883.4_Nonsense_Mutation_p.W172*|LPAR1_ENST00000374430.2_Nonsense_Mutation_p.W172*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.W173*	p.W172*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN			4	899	-			172					B4DK36|O00656|O00722|P78351	Nonsense_Mutation	SNP	ENST00000374431.3	37	c.516G>A	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	37	6.409413	0.97542	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	.	.	.	5.53	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4093	0.60933	0.0:0.9247:0.0:0.0753	.	.	.	.	X	172;173;172;172;154;173;172	.	ENSP00000351755:W172X	W	-	3	0	LPAR1	112743799	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	1.357000	0.45904	0.655000	0.94253	TGG		0.502	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		23	73	0	0	0	1	0	23	73				
ARL4C	10123	broad.mit.edu	37	2	235404810	235404810	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr2:235404810C>T	ENST00000390645.2	-	1	887	c.421G>A	c.(421-423)Gag>Aag	p.E141K	ARL4C_ENST00000339728.3_Missense_Mutation_p.E141K	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	141					endocytic recycling (GO:0032456)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		AGCTGCTTCTCAATCTCTGCC	0.647																																					Esophageal Squamous(157;1837 2534 13028 22831)	ENST00000390645.2																			0				endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4						c.(421-423)Gag>Aag		ADP-ribosylation factor-like 4C							34.0	41.0	38.0					2																	235404810		2051	4199	6250	SO:0001583	missense	10123				endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity	g.chr2:235404810C>T	AB016811	CCDS2512.1, CCDS63169.1	2q37.2	2014-05-09	2005-11-03	2005-11-03	ENSG00000188042	ENSG00000188042		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	698	protein-coding gene	gene with protein product		604787	"""ADP-ribosylation factor-like 7"""	ARL7			Standard	NM_005737		Approved	LAK	uc002vvn.3	P56559	OTTHUMG00000133291	ENST00000390645.2:c.421G>A	2.37:g.235404810C>T	ENSP00000375057:p.Glu141Lys					ARL4C_ENST00000339728.3_Missense_Mutation_p.E141K	p.E141K	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)	1	887	-		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)	141					Q4A519|Q53R10|Q9BVN1|Q9UQ34	Missense_Mutation	SNP	ENST00000390645.2	37	c.421G>A	CCDS2512.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318186	0.95682	.	.	ENSG00000188042	ENST00000390645;ENST00000339728	T;T	0.62498	0.02;0.02	4.26	4.26	0.50523	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.64940	0.2644	L	0.38953	1.18	0.80722	D	1	P;P	0.52170	0.951;0.916	P;P	0.53954	0.738;0.672	T	0.69764	-0.5057	10	0.66056	D	0.02	-17.9184	15.5968	0.76590	0.0:1.0:0.0:0.0	.	141;141	P56559;Q4A519	ARL4C_HUMAN;.	K	141	ENSP00000375057:E141K;ENSP00000339754:E141K	ENSP00000339754:E141K	E	-	1	0	ARL4C	235069549	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.823000	0.69272	2.096000	0.63516	0.557000	0.71058	GAG		0.647	ARL4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257073.1			11	45	0	0	0	1	0	11	45				
RNF213	57674	broad.mit.edu	37	17	78321708	78321708	+	Silent	SNP	C	C	A			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr17:78321708C>A	ENST00000582970.1	+	29	9716	c.9573C>A	c.(9571-9573)ctC>ctA	p.L3191L	RNF213_ENST00000508628.2_Silent_p.L3240L|RNF213_ENST00000336301.6_Silent_p.L1264L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3191					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGGAGGAGCTCTGTGCGTGGG	0.512																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(9571-9573)ctC>ctA		ring finger protein 213							82.0	86.0	84.0					17																	78321708		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78321708C>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9573C>A	17.37:g.78321708C>A						RNF213_ENST00000508628.2_Silent_p.L3240L|RNF213_ENST00000336301.6_Silent_p.L1264L	p.L3191L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	9716	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.9573C>A	CCDS58606.1																																																																																				0.512	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		8	35	1	0	0.000157383	1	0.000161471	8	35				
NUCKS1	64710	broad.mit.edu	37	1	205687518	205687518	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:205687518C>T	ENST00000367142.4	-	7	924	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	NUCKS1_ENST00000464938.1_5'Flank	NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	208						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCCTCATCTTCTTCTTTGGGA	0.507																																						ENST00000367142.4																			0				endometrium(4)|large_intestine(1)|lung(9)	14						c.(622-624)Gaa>Aaa		nuclear casein kinase and cyclin-dependent kinase substrate 1							167.0	188.0	181.0					1																	205687518		2203	4300	6503	SO:0001583	missense	64710					nucleus		g.chr1:205687518C>T		CCDS30987.1	1q32.1	2008-02-05			ENSG00000069275	ENSG00000069275			29923	protein-coding gene	gene with protein product		611912				11298763	Standard	NM_022731		Approved	NUCKS	uc001hdb.3	Q9H1E3	OTTHUMG00000035996	ENST00000367142.4:c.622G>A	1.37:g.205687518C>T	ENSP00000356110:p.Glu208Lys						p.E208K	NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		7	924	-	Breast(84;0.07)		208					Q54AC0|Q5PXE7|Q9H1D6|Q9H723	Missense_Mutation	SNP	ENST00000367142.4	37	c.622G>A	CCDS30987.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581738	0.86748	.	.	ENSG00000069275	ENST00000367142	T	0.22743	1.94	5.17	5.17	0.71159	.	0.195063	0.53938	D	0.000053	T	0.25680	0.0625	M	0.63428	1.95	0.80722	D	1	B	0.29301	0.241	B	0.24155	0.051	T	0.03034	-1.1080	10	0.39692	T	0.17	-5.6879	18.6024	0.91253	0.0:1.0:0.0:0.0	.	208	Q9H1E3	NUCKS_HUMAN	K	208	ENSP00000356110:E208K	ENSP00000356110:E208K	E	-	1	0	NUCKS1	203954141	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	7.038000	0.76537	2.557000	0.86248	0.563000	0.77884	GAA		0.507	NUCKS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087729.1	NM_022731		33	244	0	0	0	1	0	33	244				
C17orf74	201243	broad.mit.edu	37	17	7329557	7329557	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr17:7329557C>G	ENST00000333870.3	+	3	321	c.247C>G	c.(247-249)Cag>Gag	p.Q83E	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Intron	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	83						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				AGACAAGGCTCAGGATGTCCA	0.542																																						ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(247-249)Cag>Gag		chromosome 17 open reading frame 74							100.0	101.0	101.0					17																	7329557		2042	4183	6225	SO:0001583	missense	201243					integral to membrane		g.chr17:7329557C>G	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.247C>G	17.37:g.7329557C>G	ENSP00000328061:p.Gln83Glu					RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Intron	p.Q83E	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	321	+		Prostate(122;0.157)	83						Missense_Mutation	SNP	ENST00000333870.3	37	c.247C>G	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399534	0.25291	.	.	ENSG00000184560	ENST00000333870	T	0.50001	0.76	3.68	-0.317	0.12736	.	0.648235	0.12968	N	0.424384	T	0.38931	0.1059	L	0.50333	1.59	0.09310	N	0.999999	B	0.33807	0.426	B	0.32211	0.142	T	0.30208	-0.9986	10	0.72032	D	0.01	-8.794	9.8023	0.40773	0.6225:0.3775:0.0:0.0	.	83	Q0P670	CQ074_HUMAN	E	83	ENSP00000328061:Q83E	ENSP00000328061:Q83E	Q	+	1	0	C17orf74	7270281	0.950000	0.32346	0.159000	0.22649	0.063000	0.16089	0.398000	0.20899	-0.033000	0.13736	-0.500000	0.04577	CAG		0.542	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		24	90	0	0	0	1	0	24	90				
B3GAT2	135152	broad.mit.edu	37	6	71603971	71603971	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:71603971C>T	ENST00000230053.6	-	2	1204	c.596G>A	c.(595-597)cGa>cAa	p.R199Q		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	199					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCGGGTGGTTCGCATCTATAA	0.507																																						ENST00000230053.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						c.(595-597)cGa>cAa		beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)							58.0	61.0	60.0					6																	71603971		2203	4300	6503	SO:0001583	missense	135152				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr6:71603971C>T	AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	922	protein-coding gene	gene with protein product	"""glucuronosyltransferase S"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"""	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.596G>A	6.37:g.71603971C>T	ENSP00000230053:p.Arg199Gln						p.R199Q	NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN			2	1204	-			199					Q5JS09|Q8TF38|Q96NK4	Missense_Mutation	SNP	ENST00000230053.6	37	c.596G>A	CCDS4974.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635964	0.87760	.	.	ENSG00000112309	ENST00000230053	T	0.54866	0.55	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.71846	0.3388	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.69049	-0.5248	10	0.44086	T	0.13	-12.3395	20.6452	0.99591	0.0:1.0:0.0:0.0	.	127;199	Q29RV3;Q9NPZ5	.;B3GA2_HUMAN	Q	199	ENSP00000230053:R199Q	ENSP00000230053:R199Q	R	-	2	0	B3GAT2	71660692	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	7.782000	0.85680	2.885000	0.99019	0.650000	0.86243	CGA		0.507	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2	NM_080742		6	50	0	0	0	1	0	6	50				
CRISPLD2	83716	broad.mit.edu	37	16	84906615	84906615	+	Silent	SNP	C	C	T	rs376122777		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:84906615C>T	ENST00000262424.5	+	10	1223	c.999C>T	c.(997-999)cgC>cgT	p.R333R	CRISPLD2_ENST00000567845.1_Silent_p.R332R|CRISPLD2_ENST00000564567.1_Silent_p.R333R	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	333	LCCL 1. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GCATATGCCGCGCCGCCATCC	0.552																																						ENST00000262424.5																			0				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						c.(997-999)cgC>cgT		cysteine-rich secretory protein LCCL domain containing 2		C		0,4398		0,0,2199	103.0	100.0	101.0		999	-2.5	0.9	16		101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CRISPLD2	NM_031476.3		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		333/498	84906615	1,12997	2199	4300	6499	SO:0001819	synonymous_variant	83716					extracellular region|transport vesicle		g.chr16:84906615C>T	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.999C>T	16.37:g.84906615C>T						CRISPLD2_ENST00000564567.1_Silent_p.R333R|CRISPLD2_ENST00000567845.1_Silent_p.R332R	p.R333R	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN			10	1223	+			333			LCCL 1.		D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Silent	SNP	ENST00000262424.5	37	c.999C>T	CCDS10949.1																																																																																				0.552	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		62	132	0	0	0	1	0	62	132				
HNRNPUL1	11100	broad.mit.edu	37	19	41808584	41808584	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr19:41808584C>T	ENST00000392006.3	+	12	1875	c.1702C>T	c.(1702-1704)Cca>Tca	p.P568S	HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.P454S|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.P468S|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.P468S|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.P568S|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.P479S|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.P468S	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	568	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CTTCACGTTGCCAGATGTTGG	0.552																																						ENST00000392006.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1702-1704)Cca>Tca		heterogeneous nuclear ribonucleoprotein U-like 1							79.0	79.0	79.0					19																	41808584		2203	4298	6501	SO:0001583	missense	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41808584C>T	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1702C>T	19.37:g.41808584C>T	ENSP00000375863:p.Pro568Ser					HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.P568S|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.P468S|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.P468S|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.P468S|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.P454S|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.P479S	p.P568S	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN			12	1875	+			568			Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	c.1702C>T	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203051	0.79127	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.15	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.79661	0.4484	M	0.90082	3.085	0.58432	D	0.999996	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.951;0.998;1.0;1.0	D	0.84756	0.0759	10	0.87932	D	0	-7.3032	14.4468	0.67356	0.1486:0.8514:0.0:0.0	.	479;468;568;92;454;568;468	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-5;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;.;HNRL1_HUMAN;.	S	468;568;454;479	ENSP00000340857:P468S;ENSP00000375863:P568S;ENSP00000367460:P454S;ENSP00000263367:P479S	ENSP00000263367:P479S	P	+	1	0	HNRNPUL1	46500424	1.000000	0.71417	0.396000	0.26296	0.970000	0.65996	5.520000	0.67080	1.525000	0.49052	0.591000	0.81541	CCA		0.552	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		14	76	0	0	0	1	0	14	76				
HIC2	23119	broad.mit.edu	37	22	21799304	21799304	+	Silent	SNP	G	G	A	rs376578271		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr22:21799304G>A	ENST00000443632.2	+	2	492	c.120G>A	c.(118-120)agG>agA	p.R40R	HIC2_ENST00000407598.2_Silent_p.R40R|HIC2_ENST00000407464.2_Silent_p.R40R			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	40					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				ACCAGCAGAGGACCAAGGGCT	0.627																																					NSCLC(23;437 858 2282 27947 40366)	ENST00000443632.2																			0				NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(118-120)agG>agA		hypermethylated in cancer 2		G		0,4406		0,0,2203	98.0	92.0	94.0		120	1.7	1.0	22		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HIC2	NM_015094.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		40/616	21799304	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21799304G>A	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.120G>A	22.37:g.21799304G>A						HIC2_ENST00000407464.2_Silent_p.R40R|HIC2_ENST00000407598.2_Silent_p.R40R	p.R40R			Q96JB3	HIC2_HUMAN			2	492	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	40					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Silent	SNP	ENST00000443632.2	37	c.120G>A	CCDS13789.1																																																																																				0.627	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			42	95	0	0	0	1	0	42	95				
GRM3	2913	broad.mit.edu	37	7	86415945	86415945	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr7:86415945C>G	ENST00000361669.2	+	3	1936	c.837C>G	c.(835-837)gaC>gaG	p.D279E	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.D279E|GRM3_ENST00000536043.1_Missense_Mutation_p.D151E|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.D277E	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	279					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGCGCAGCGACGACTCGCGGG	0.657																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(835-837)gaC>gaG		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						37.0	43.0	41.0					7																	86415945		2203	4299	6502	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415945C>G		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.837C>G	7.37:g.86415945C>G	ENSP00000355316:p.Asp279Glu					GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.D277E|GRM3_ENST00000536043.1_Missense_Mutation_p.D151E|GRM3_ENST00000439827.1_Missense_Mutation_p.D279E|AC005009.2_ENST00000418031.1_RNA	p.D279E	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1936	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		279					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.837C>G	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276173	0.40294	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56	6.07	-0.596	0.11657	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.61912	0.2385	N	0.05078	-0.115	0.54753	D	0.999982	B;B;B	0.21309	0.004;0.054;0.002	B;B;B	0.23574	0.009;0.047;0.01	T	0.46442	-0.9191	10	0.10636	T	0.68	.	13.0294	0.58833	0.0:0.5537:0.0:0.4463	.	151;279;279	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	E	279;151;151;279;277	ENSP00000355316:D279E;ENSP00000405427:D151E;ENSP00000441407:D151E;ENSP00000398767:D279E;ENSP00000378209:D277E	ENSP00000355316:D279E	D	+	3	2	GRM3	86253881	0.024000	0.19004	0.973000	0.42090	0.996000	0.88848	-0.771000	0.04699	-0.045000	0.13468	-0.137000	0.14449	GAC		0.657	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			7	70	0	0	0	1	0	7	70				
OSBPL1A	114876	broad.mit.edu	37	18	21745068	21745068	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr18:21745068C>T	ENST00000319481.3	-	27	2917	c.2711G>A	c.(2710-2712)cGc>cAc	p.R904H	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.R391H|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.R522H|RP11-799B12.4_ENST00000583267.1_lincRNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	904					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CCTGTTTTTGCGGGCTGCTCT	0.488																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2710-2712)cGc>cAc		oxysterol binding protein-like 1A							284.0	253.0	263.0					18																	21745068		2203	4300	6503	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21745068C>T	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2711G>A	18.37:g.21745068C>T	ENSP00000320291:p.Arg904His					OSBPL1A_ENST00000399443.3_Missense_Mutation_p.R391H|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.R522H	p.R904H	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			27	2917	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		904					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.2711G>A	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	34	5.387779	0.95988	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.38887	1.11;1.11;1.11	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.76912	0.4054	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83569	0.0111	10	0.87932	D	0	-16.3923	19.9246	0.97099	0.0:1.0:0.0:0.0	.	904	Q9BXW6	OSBL1_HUMAN	H	904;391;522	ENSP00000320291:R904H;ENSP00000382372:R391H;ENSP00000349545:R522H	ENSP00000320291:R904H	R	-	2	0	OSBPL1A	19999066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.783000	0.85696	2.700000	0.92200	0.591000	0.81541	CGC		0.488	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		5	281	0	0	0	1	0	5	281				
MDN1	23195	broad.mit.edu	37	6	90399691	90399691	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr6:90399691G>C	ENST00000369393.3	-	65	11036	c.10921C>G	c.(10921-10923)Caa>Gaa	p.Q3641E	MDN1_ENST00000428876.1_Missense_Mutation_p.Q3641E			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3641					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGAGTCTGTTGATACCAGAGG	0.502																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(10921-10923)Caa>Gaa		MDN1, midasin homolog (yeast)							143.0	115.0	124.0					6																	90399691		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90399691G>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.10921C>G	6.37:g.90399691G>C	ENSP00000358400:p.Gln3641Glu					MDN1_ENST00000428876.1_Missense_Mutation_p.Q3641E	p.Q3641E			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	65	11036	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	3641					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.10921C>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159023	0.38119	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02974	4.09;4.09	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.01454	0.0047	L	0.60455	1.87	0.39414	D	0.966794	P	0.38195	0.622	B	0.30179	0.112	T	0.52238	-0.8602	10	0.09590	T	0.72	.	15.6988	0.77521	0.0:0.0:0.8625:0.1375	.	3641	Q9NU22	MDN1_HUMAN	E	3641	ENSP00000358400:Q3641E;ENSP00000413970:Q3641E	ENSP00000358400:Q3641E	Q	-	1	0	MDN1	90456412	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	5.888000	0.69758	2.762000	0.94881	0.563000	0.77884	CAA		0.502	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			21	89	0	0	0	1	0	21	89				
CYP4Z2P	163720	broad.mit.edu	37	1	47325653	47325654	+	RNA	INS	-	-	T	rs552460453		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:47325653_47325654insT	ENST00000505841.1	-	0	1070					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										TAACTGTAAGCTTTTTTTTCGC	0.371																																						ENST00000505841.1																			0																																																			163720							g.chr1:47325653_47325654insT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325661_47325661dupT								NR_002788.2						0	1070	-								Q66ZJ5	RNA	INS	ENST00000505841.1	37																																																																																						0.371	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		2	4						2	4	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs9424678|rs11370361|rs142440425		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											aaaccaaaaacaaaAAAAAAAG	0.416																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109312_145109313insA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109322_145109322dupA										O75396	SC22B_HUMAN			0	512	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.416	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		3	5						3	5	---	---	---	---
ADAMTS4	9507	broad.mit.edu	37	1	161167833	161167833	+	Silent	SNP	G	G	A	rs114749477		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr1:161167833G>A	ENST00000367996.5	-	1	1013	c.585C>T	c.(583-585)aaC>aaT	p.N195N	NDUFS2_ENST00000367993.3_5'Flank|ADAMTS4_ENST00000367995.3_Silent_p.N195N|ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	195					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GAGCCTTGACGTTGCACATGG	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17286	0.0		0.0	False		,,,				2504	0.0					ENST00000367996.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(583-585)aaC>aaT		ADAM metallopeptidase with thrombospondin type 1 motif, 4							64.0	62.0	63.0					1																	161167833		2203	4300	6503	SO:0001819	synonymous_variant	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161167833G>A	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.585C>T	1.37:g.161167833G>A						ADAMTS4_ENST00000367995.3_Silent_p.N195N	p.N195N	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		1	1013	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		195					Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	ENST00000367996.5	37	c.585C>T	CCDS1223.1																																																																																				0.642	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		12	61	0	0	0	1	0	12	61				
NPIPB15	440348	broad.mit.edu	37	16	74425400	74425402	+	In_Frame_Del	DEL	CAA	CAA	-	rs370078939		TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr16:74425400_74425402delCAA	ENST00000429990.1	+	7	850_852	c.754_756delCAA	c.(754-756)caadel	p.Q253del				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	253	Pro-rich.					extracellular region (GO:0005576)											TCCTCCAACTCAACAACATTCTA	0.517																																						ENST00000429990.1																			0											c.(754-756)del		nuclear pore complex interacting protein family, member B15																																				SO:0001651	inframe_deletion	440348							g.chr16:74425400_74425402delCAA	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.754_756delCAA	16.37:g.74425403_74425405delCAA	ENSP00000411140:p.Gln253del						p.Q253del							7	850_852	+								C9J9U8	In_Frame_Del	DEL	ENST00000429990.1	37	c.754_756delCAA																																																																																					0.517	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059		7	286						7	286	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-P3-A6T3-01A-11D-A34J-08	TCGA-P3-A6T3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f755746c-c1e7-4b10-8cc4-2468ae3f5872	fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6	g.chr21:11085863_11085864insC	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)		catcaccaccaccaccatcacc	0.579																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085863_11085864insC	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.11085865_11085865dupC												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	INS	ENST00000470054.1	37																																																																																						0.579	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
