#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
GBP4	115361	broad.mit.edu	37	1	89655829	89655829	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:89655829C>T	ENST00000355754.6	-	7	1186	c.1089G>A	c.(1087-1089)acG>acA	p.T363T		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	363						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GCTCCTGGAGCGTGTCTGTGG	0.577																																						uc001dnb.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33						c.(1087-1089)acG>acA		Homo sapiens guanylate binding protein 4 (GBP4), mRNA.							81.0	76.0	78.0					1																	89655829		2203	4300	6503	SO:0001819	synonymous_variant	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89655829C>T	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1089G>A	1.37:g.89655829C>T							p.T363T	NM_052941	NP_443173	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	6	1205	-			363					B2R630|Q05D63|Q6NSL0|Q86T99	Silent	SNP	ENST00000355754.6	37	c.1089G>A	CCDS721.1																																																																																				0.577	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941	
NBPF9	400818	broad.mit.edu	37	1	144825416	144825416	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:144825416G>T	ENST00000440491.2	+	11	1368	c.1368G>T	c.(1366-1368)tgG>tgT	p.W456C	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000338347.4_Intron	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	714	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						TGGGTAGATGGTATTCGACTC	0.498																																						uc009wig.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(2134-2136)tgG>tgT		Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.																																				SO:0001583	missense	400818							g.chr1:144825416G>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.1368G>T	1.37:g.144825416G>T	ENSP00000390934:p.Trp456Cys					NBPF10_uc010oxo.1_Missense_Mutation_p.W639C|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Missense_Mutation_p.W529C|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.W515C|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.W374C	p.W712C	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	17	2330	+	all_hematologic(923;0.032)		714						Missense_Mutation	SNP	ENST00000440491.2	37	c.2136G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.001|0.001	-3.854584|-3.854584	0.00004|0.00004	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000440491	.|T	.|0.04360	.|3.64	1.21|1.21	-2.43|-2.43	0.06522|0.06522	.|.	.|.	.|.	.|.	.|.	T|T	0.00328|0.00328	0.0010|0.0010	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41645|0.41645	-0.9497|-0.9497	4|6	.|0.02654	.|T	.|1	.|.	2.085|2.085	0.03644|0.03644	0.1601:0.1508:0.4683:0.2208|0.1601:0.1508:0.4683:0.2208	.|.	.|.	.|.	.|.	V|C	455|456	.|ENSP00000390934:W456C	.|ENSP00000390934:W456C	G|W	+|+	2|3	0|0	NBPF9|NBPF9	143536773|143536773	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-1.250000|-1.250000	0.02885|0.02885	-3.829000|-3.829000	0.00102|0.00102	-1.228000|-1.228000	0.01579|0.01579	GGT|TGG		0.498	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675	
TCHH	7062	broad.mit.edu	37	1	152082760	152082760	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:152082760G>A	ENST00000368804.1	-	2	2932	c.2933C>T	c.(2932-2934)cCg>cTg	p.P978L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	978	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tctcttctccggttcctctcc	0.557																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(2932-2934)cCg>cTg		Homo sapiens trichohyalin (TCHH), mRNA.							129.0	133.0	132.0					1																	152082760		1889	4118	6007	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082760G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2933C>T	1.37:g.152082760G>A	ENSP00000357794:p.Pro978Leu					TCHH_uc001ezp.2_Missense_Mutation_p.P978L	p.P978L	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3205	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		978			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.2933C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	4.546	0.101462	0.08731	.	.	ENSG00000159450	ENST00000368804	T	0.06608	3.28	2.07	-4.14	0.03892	.	.	.	.	.	T	0.00666	0.0022	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48352	-0.9043	9	0.29301	T	0.29	.	0.1387	0.00081	0.3568:0.1982:0.1602:0.2848	.	978	Q07283	TRHY_HUMAN	L	978	ENSP00000357794:P978L	ENSP00000357794:P978L	P	-	2	0	TCHH	150349384	0.000000	0.05858	0.002000	0.10522	0.127000	0.20565	-0.156000	0.10100	-0.948000	0.03668	-1.601000	0.00813	CCG		0.557	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
TOMM20	9804	broad.mit.edu	37	1	235291954	235291954	+	Missense_Mutation	SNP	C	C	T	rs1130507		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:235291954C>T	ENST00000366607.4	-	1	297	c.77G>A	c.(76-78)cGc>cAc	p.R26H	SNORA14B_ENST00000384452.1_RNA	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)	26					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)|unfolded protein binding (GO:0051082)			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			TCGTCTTTTGCGGTCGAAGTA	0.597																																						uc001hwl.3																			0				lung(2)|prostate(1)	3						c.(76-78)cGc>cAc		Homo sapiens translocase of outer mitochondrial membrane 20 homolog (yeast) (TOMM20), nuclear gene encoding mitochondrial protein, mRNA.							138.0	127.0	131.0					1																	235291954		2203	4300	6503	SO:0001583	missense	9804				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding	g.chr1:235291954C>T		CCDS1603.1	1q42	2008-07-18			ENSG00000173726	ENSG00000173726			20947	protein-coding gene	gene with protein product	"""translocase of outer mitochondrial membrane 20 homolog type II"""	601848				7498524, 7589431, 15733919	Standard	NM_014765		Approved	KIAA0016, TOM20, MOM19, MAS20	uc001hwl.3	Q15388	OTTHUMG00000039619	ENST00000366607.4:c.77G>A	1.37:g.235291954C>T	ENSP00000355566:p.Arg26His					SNORA14B_uc001hwm.1_5'Flank	p.R26H	NM_014765	NP_055580	Q15388	TOM20_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)		0	303	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	26					A8K195|Q498B3|Q6IBT4	Missense_Mutation	SNP	ENST00000366607.4	37	c.77G>A	CCDS1603.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559898	0.27827	.	.	ENSG00000173726	ENST00000366607	T	0.46451	0.87	4.95	2.01	0.26516	.	0.052748	0.64402	D	0.000001	T	0.29749	0.0743	L	0.45285	1.41	0.58432	D	0.999999	B	0.21071	0.051	B	0.19391	0.025	T	0.05699	-1.0869	10	0.24483	T	0.36	-0.4404	6.8598	0.24060	0.1329:0.6698:0.1279:0.0695	rs1130507;rs3189427	26	Q15388	TOM20_HUMAN	H	26	ENSP00000355566:R26H	ENSP00000355566:R26H	R	-	2	0	TOMM20	233358577	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	7.097000	0.76967	0.359000	0.24239	-0.304000	0.09214	CGC		0.597	TOMM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095551.1	NM_014765	
OR2M5	127059	broad.mit.edu	37	1	248308935	248308935	+	Silent	SNP	G	G	A	rs138472974	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:248308935G>A	ENST00000366476.1	+	1	486	c.486G>A	c.(484-486)gcG>gcA	p.A162A		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATGCTGTAGCGACATTTTCCT	0.448																																						uc010pze.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(484-486)gcG>gcA		Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.		A		8,4398	825.2+/-416.5	0,8,2195	275.0	260.0	265.0		486	-3.0	0.0	1	dbSNP_134	265	0,8600		0,0,4300	no	coding-synonymous	OR2M5	NM_001004690.1		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		162/313	248308935	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308935G>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.486G>A	1.37:g.248308935G>A							p.A162A	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		0	486	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		162						Silent	SNP	ENST00000366476.1	37	c.486G>A	CCDS31105.1																																																																																				0.448	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690	
OR2M3	127062	broad.mit.edu	37	1	248367072	248367072	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:248367072C>T	ENST00000456743.1	+	1	741	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R235C(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGAGGGTCGTCGCAAAGCTTT	0.473																																						uc010pzg.2																			1	Substitution - Missense(1)	p.R235H(2)|p.R235C(2)	endometrium(1)	endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(703-705)Cgc>Tgc		Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.							259.0	247.0	251.0					1																	248367072		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248367072C>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.703C>T	1.37:g.248367072C>T	ENSP00000389625:p.Arg235Cys						p.R235C	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	703	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		235					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.703C>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	5.541	0.284719	0.10513	.	.	ENSG00000228198	ENST00000456743	T	0.00164	8.64	2.25	-1.67	0.08238	GPCR, rhodopsin-like superfamily (1);	1.276350	0.06104	U	0.665935	T	0.00144	0.0004	L	0.41961	1.31	0.09310	N	1	B	0.15930	0.015	B	0.18263	0.021	T	0.26643	-1.0097	10	0.87932	D	0	.	3.6007	0.08023	0.3259:0.457:0.0:0.2171	.	235	Q8NG83	OR2M3_HUMAN	C	235	ENSP00000389625:R235C	ENSP00000389625:R235C	R	+	1	0	OR2M3	246433695	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.671000	0.05250	-0.602000	0.05775	-1.595000	0.00837	CGC		0.473	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689	
DLG5	9231	broad.mit.edu	37	10	79581860	79581860	+	Splice_Site	SNP	C	C	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr10:79581860C>G	ENST00000372391.2	-	15	2388		c.e15-1		DLG5_ENST00000459739.1_5'Flank|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)						apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GAGGGAATACCTAGGCAGGGA	0.512																																						uc001jzk.3																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.e15-1		Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.							46.0	50.0	48.0					10																	79581860		2203	4299	6502	SO:0001630	splice_region_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79581860C>G	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2383-1G>C	10.37:g.79581860C>G						DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Splice_Site|DLG5_uc001jzl.4_Splice_Site_p.V399_splice	p.V795_splice	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		15	2453	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		795			PDZ 2.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Splice_Site	SNP	ENST00000372391.2	37	c.2383_splice	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	12.73	2.027048	0.35797	.	.	ENSG00000151208	ENST00000372391;ENST00000372392	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4315	0.94772	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DLG5	79251866	1.000000	0.71417	0.996000	0.52242	0.313000	0.28021	7.285000	0.78660	2.607000	0.88179	0.609000	0.83330	.		0.512	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2		Intron
HSPA12A	259217	broad.mit.edu	37	10	118464692	118464692	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr10:118464692G>A	ENST00000369209.3	-	3	328	c.224C>T	c.(223-225)aCc>aTc	p.T75I		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	75						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CGGCTCCTTGGTGAAGCTGTA	0.582																																						uc001lct.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(223-225)aCc>aTc		Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.							114.0	124.0	121.0					10																	118464692		2156	4267	6423	SO:0001583	missense	259217						ATP binding	g.chr10:118464692G>A	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.224C>T	10.37:g.118464692G>A	ENSP00000358211:p.Thr75Ile					HSPA12A_uc001lcu.3_5'UTR	p.T75I	NM_025015	NP_079291	O43301	HS12A_HUMAN		all cancers(201;0.0158)	2	329	-			75						Missense_Mutation	SNP	ENST00000369209.3	37	c.224C>T	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007093	0.54361	.	.	ENSG00000165868	ENST00000369209	T	0.03982	3.74	5.93	5.02	0.67125	.	0.243459	0.47852	D	0.000209	T	0.04634	0.0126	N	0.16307	0.4	0.50813	D	0.999893	B	0.16802	0.019	B	0.16289	0.015	T	0.44772	-0.9306	10	0.37606	T	0.19	.	17.0473	0.86508	0.0:0.1272:0.8728:0.0	.	75	O43301	HS12A_HUMAN	I	75	ENSP00000358211:T75I	ENSP00000358211:T75I	T	-	2	0	HSPA12A	118454682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.586000	0.74067	1.478000	0.48253	0.655000	0.94253	ACC		0.582	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015	
DNHD1	144132	broad.mit.edu	37	11	6589084	6589084	+	Nonsense_Mutation	SNP	T	T	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr11:6589084T>G	ENST00000527990.2	+	34	12345	c.12345T>G	c.(12343-12345)taT>taG	p.Y4115*	DNHD1_ENST00000254579.6_Nonsense_Mutation_p.Y4115*			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4115					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGCCAAGTATCAGCAGGTTT	0.562																																						uc001mdw.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(12343-12345)taT>taG		Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.							29.0	29.0	29.0					11																	6589084		2018	4173	6191	SO:0001587	stop_gained	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6589084T>G	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.12345T>G	11.37:g.6589084T>G	ENSP00000436180:p.Tyr4115*					DNHD1_uc001mea.4_Nonsense_Mutation_p.Y384*|DNHD1_uc001meb.3_Nonsense_Mutation_p.Y383*|DNHD1_uc001mec.3_Nonsense_Mutation_p.Y383*|DNHD1_uc010rao.2_Nonsense_Mutation_p.Y373*|DNHD1_uc009yfg.3_5'Flank	p.Y4115*	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	35	12909	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4115					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Nonsense_Mutation	SNP	ENST00000527990.2	37	c.12345T>G	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	T	55	23.589366	0.99956	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	.	.	.	4.65	-0.642	0.11486	.	0.563260	0.17764	N	0.162807	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.487	5.7315	0.18042	0.0:0.3963:0.2205:0.3832	.	.	.	.	X	4115;4115;383;383	.	ENSP00000254579:Y4115X	Y	+	3	2	DNHD1	6545660	0.000000	0.05858	0.010000	0.14722	0.894000	0.52154	-0.231000	0.09069	0.010000	0.14839	0.459000	0.35465	TAT		0.562	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
OR5M1	390168	broad.mit.edu	37	11	56380101	56380101	+	Missense_Mutation	SNP	C	C	T	rs376562056		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr11:56380101C>T	ENST00000526538.1	-	1	877	c.878G>A	c.(877-879)cGg>cAg	p.R293Q		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	293						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(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						ATCTGTGTTCCGTAGGCTATA	0.398																																						uc001nja.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(877-879)cGg>cAg		Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.		C	GLN/ARG	1,3689		0,1,1844	179.0	174.0	175.0		878	2.8	0.7	11		175	0,8204		0,0,4102	no	missense	OR5M1	NM_001004740.1	43	0,1,5946	TT,TC,CC		0.0,0.0271,0.0084	possibly-damaging	293/316	56380101	1,11893	1845	4102	5947	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380101C>T	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.878G>A	11.37:g.56380101C>T	ENSP00000435416:p.Arg293Gln					OR8U8_uc001nit.2_Intron	p.R293Q	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			0	878	-			293					Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.878G>A	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	8.867	0.948321	0.18356	2.71E-4	0.0	ENSG00000255012	ENST00000526538	T	0.41065	1.01	3.71	2.79	0.32731	.	.	.	.	.	T	0.37919	0.1021	M	0.72118	2.19	0.09310	N	1	P	0.43094	0.799	B	0.36378	0.223	T	0.34453	-0.9828	9	0.72032	D	0.01	.	6.9789	0.24692	0.0:0.7851:0.0:0.2149	.	293	Q8NGP8	OR5M1_HUMAN	Q	293	ENSP00000435416:R293Q	ENSP00000435416:R293Q	R	-	2	0	OR5M1	56136677	0.002000	0.14202	0.665000	0.29768	0.145000	0.21501	1.522000	0.35921	0.809000	0.34255	0.280000	0.19369	CGG		0.398	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740	
OR5AR1	219493	broad.mit.edu	37	11	56431862	56431862	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr11:56431862G>A	ENST00000302969.2	+	1	725	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GCTGAAGGCCGCCTTAAGGCT	0.483																																						uc010rjm.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(700-702)cGc>cAc		Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.							159.0	134.0	143.0					11																	56431862		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431862G>A	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.701G>A	11.37:g.56431862G>A	ENSP00000302639:p.Arg234His					OR8U8_uc001nit.2_Intron	p.R234H	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			0	701	+			234					Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.701G>A	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	G	8.967	0.971987	0.18736	.	.	ENSG00000172459	ENST00000302969	T	0.00333	8.07	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.140758	0.33180	N	0.005192	T	0.00875	0.0029	M	0.89840	3.065	0.09310	N	1	D	0.76494	0.999	D	0.63033	0.91	T	0.36986	-0.9725	10	0.54805	T	0.06	.	12.6951	0.56999	0.0823:0.0:0.9177:0.0	.	234	Q8NGP9	O5AR1_HUMAN	H	234	ENSP00000302639:R234H	ENSP00000302639:R234H	R	+	2	0	OR5AR1	56188438	0.000000	0.05858	0.997000	0.53966	0.284000	0.27059	0.673000	0.25203	2.554000	0.86153	0.573000	0.79308	CGC		0.483	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730	
SORL1	6653	broad.mit.edu	37	11	121444999	121444999	+	Silent	SNP	G	G	A	rs371319784		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr11:121444999G>A	ENST00000260197.7	+	24	3516	c.3387G>A	c.(3385-3387)ggG>ggA	p.G1129G	SORL1_ENST00000525532.1_Silent_p.G73G|SORL1_ENST00000532694.1_5'Flank|SORL1_ENST00000534286.1_5'Flank	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1129	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGGAGTCTGGGACTTGTATCC	0.453																																						uc001pxx.3																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(3385-3387)ggG>ggA		Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.		G		0,4406		0,0,2203	234.0	198.0	210.0		3387	3.8	1.0	11		210	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	SORL1	NM_003105.5		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		1129/2215	121444999	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121444999G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3387G>A	11.37:g.121444999G>A						SORL1_uc010rzp.1_5'Flank	p.G1129G	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	23	3516	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1129			LDL-receptor class A 2.		B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.3387G>A	CCDS8436.1																																																																																				0.453	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105	
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	ATG	-	rs371197465		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:49087434_49087436delATG	ENST00000261900.3	-	9	1783_1785	c.1561_1563delCAT	c.(1561-1563)catdel	p.H521del		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	521	His-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443																																						uc001rsd.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1561-1563)catdel		Homo sapiens cyclin T1 (CCNT1), mRNA.				12,4250		0,12,2119						4.8	1.0			307	3,8241		1,1,4120	no	coding	CCNT1	NM_001240.2		1,13,6239	A1A1,A1R,RR		0.0364,0.2816,0.1199				15,12491				SO:0001651	inframe_deletion	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087434_49087436delATG	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1561_1563delCAT	12.37:g.49087443_49087445delATG	ENSP00000261900:p.His521del					CCNT1_uc009zkz.2_In_Frame_Del_p.H236del|CCNT1_uc021qxk.1_5'Flank	p.H521del	NM_001240	NP_001231	O60563	CCNT1_HUMAN			8	1884_1886	-			521			His-rich.		A9XU13|E7EX76|O60581	In_Frame_Del	DEL	ENST00000261900.3	37	c.1561_1563delCAT	CCDS8766.1																																																																																				0.443	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240	
PIP4K2C	79837	broad.mit.edu	37	12	57988971	57988971	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:57988971G>A	ENST00000354947.5	+	3	351	c.335G>A	c.(334-336)cGt>cAt	p.R112H	PIP4K2C_ENST00000540759.2_Missense_Mutation_p.R112H|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.R94H|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.R112H			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	112	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					AGGAACCTCCGTGATCGATTT	0.443																																						uc001sou.3																			0		p.L111L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(334-336)cGt>cAt		Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.							182.0	189.0	187.0					12																	57988971		2203	4300	6503	SO:0001583	missense	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57988971G>A	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.335G>A	12.37:g.57988971G>A	ENSP00000347032:p.Arg112His					PIP4K2C_uc001sot.3_Missense_Mutation_p.R112H|PIP4K2C_uc010srs.2_Missense_Mutation_p.R94H|PIP4K2C_uc010srt.2_Missense_Mutation_p.R112H	p.R112H	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN			2	466	+	Melanoma(17;0.122)		112			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	c.335G>A	CCDS8946.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024322	0.93462	.	.	ENSG00000166908	ENST00000422156;ENST00000540759;ENST00000436866;ENST00000551772;ENST00000550465;ENST00000354947	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.48	4.59	0.56863	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.053786	0.64402	N	0.000002	D	0.83566	0.5282	H	0.97516	4.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.99;0.965	D	0.89099	0.3488	10	0.87932	D	0	-7.7666	13.6413	0.62253	0.0763:0.0:0.9236:0.0	.	112;94;112	B4DM11;B4DY44;Q8TBX8	.;.;PI42C_HUMAN	H	112;112;112;91;94;112	ENSP00000412035:R112H;ENSP00000439878:R112H;ENSP00000450197:R91H;ENSP00000447390:R94H;ENSP00000347032:R112H	ENSP00000347032:R112H	R	+	2	0	PIP4K2C	56275238	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.755000	0.98912	1.463000	0.47967	0.462000	0.41574	CGT		0.443	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779	
KCNC2	3747	broad.mit.edu	37	12	75441962	75441962	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:75441962G>A	ENST00000549446.1	-	4	2431	c.1751C>T	c.(1750-1752)aCg>aTg	p.T584M	KCNC2_ENST00000393288.2_Missense_Mutation_p.T584M|KCNC2_ENST00000550433.1_Missense_Mutation_p.T584M|KCNC2_ENST00000298972.1_Missense_Mutation_p.T584M|KCNC2_ENST00000548513.1_Missense_Mutation_p.T584M|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000548243.1_5'Flank|KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000341669.3_Missense_Mutation_p.T584M	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	584					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	AGAAGCACACGTGTAATCACC	0.448																																						uc001sxg.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1750-1752)aCg>aTg		Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.							320.0	256.0	277.0					12																	75441962		2203	4300	6503	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75441962G>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1751C>T	12.37:g.75441962G>A	ENSP00000449253:p.Thr584Met					KCNC2_uc009zry.3_Missense_Mutation_p.T584M|KCNC2_uc001sxe.3_Missense_Mutation_p.T584M|KCNC2_uc001sxf.3_Intron|KCNC2_uc010stw.1_Intron	p.T584M	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			3	2295	-			584					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.1751C>T	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235169	0.79800	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000393288	D;D;D;D;D;D	0.97352	-4.35;-4.35;-4.33;-4.35;-4.35;-4.35	5.55	5.55	0.83447	.	0.464989	0.21755	N	0.069609	D	0.97253	0.9102	L	0.48642	1.525	0.46185	D	0.99891	D;D;D	0.69078	0.996;0.982;0.997	P;P;P	0.56343	0.796;0.629;0.621	D	0.97828	1.0261	10	0.72032	D	0.01	.	19.4922	0.95054	0.0:0.0:1.0:0.0	.	584;584;584	Q96PR1-2;Q96PR1;Q96PR1-3	.;KCNC2_HUMAN;.	M	584	ENSP00000448301:T584M;ENSP00000449941:T584M;ENSP00000449253:T584M;ENSP00000340121:T584M;ENSP00000298972:T584M;ENSP00000376966:T584M	ENSP00000298972:T584M	T	-	2	0	KCNC2	73728229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.016000	0.70798	2.604000	0.88044	0.585000	0.79938	ACG		0.448	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748	
SCYL2	55681	broad.mit.edu	37	12	100711649	100711649	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:100711649C>T	ENST00000360820.2	+	10	1778	c.1341C>T	c.(1339-1341)aaC>aaT	p.N447N		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	447					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						AGATAAAGAACAGTGTTCTAC	0.333																																						uc001thn.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(1339-1341)aaC>aaT		Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.							96.0	93.0	94.0					12																	100711649		2203	4299	6502	SO:0001819	synonymous_variant	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100711649C>T	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1341C>T	12.37:g.100711649C>T						SCYL2_uc009ztw.1_Silent_p.N274N|SCYL2_uc001thm.1_Silent_p.N447N	p.N447N	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN			9	1391	+			447					A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Silent	SNP	ENST00000360820.2	37	c.1341C>T	CCDS9076.1																																																																																				0.333	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988	
KSR2	283455	broad.mit.edu	37	12	117977605	117977605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:117977605delG	ENST00000339824.5	-	10	2333	c.1606delC	c.(1606-1608)ctcfs	p.L536fs	KSR2_ENST00000302438.5_Frame_Shift_Del_p.L233fs|KSR2_ENST00000425217.1_Frame_Shift_Del_p.L507fs|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTAGGAGGGAGGGGGGGTGCT	0.632																																						uc001two.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1519-1521)ctcfs		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.							71.0	86.0	81.0					12																	117977605		2132	4217	6349	SO:0001589	frameshift_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977605delG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1606delC	12.37:g.117977605delG	ENSP00000339952:p.Leu536fs						p.L507fs	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			9	1574	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		536					A0PJT2|Q3B828|Q8N775	Frame_Shift_Del	DEL	ENST00000339824.5	37	c.1519delC																																																																																					0.632	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598	
PIWIL1	9271	broad.mit.edu	37	12	130841563	130841563	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:130841563G>A	ENST00000245255.3	+	13	1777	c.1505G>A	c.(1504-1506)cGa>cAa	p.R502Q		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	502					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATCTATACGCGAAGAAATTAT	0.348																																						uc001uik.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(1504-1506)cGa>cAa		Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.							83.0	82.0	82.0					12																	130841563		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130841563G>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1505G>A	12.37:g.130841563G>A	ENSP00000245255:p.Arg502Gln					PIWIL1_uc001uij.2_Missense_Mutation_p.R502Q	p.R502Q	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	12	1776	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		502					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.1505G>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466501	0.43839	.	.	ENSG00000125207	ENST00000245255	T	0.14144	2.53	5.41	4.51	0.55191	Ribonuclease H-like (1);	0.052439	0.85682	D	0.000000	T	0.18841	0.0452	L	0.49350	1.555	0.53688	D	0.999979	D;P	0.64830	0.994;0.87	P;B	0.49752	0.621;0.269	T	0.01545	-1.1328	10	0.23302	T	0.38	-5.8209	13.6369	0.62227	0.0762:0.0:0.9238:0.0	.	502;502	Q96J94;Q96J94-2	PIWL1_HUMAN;.	Q	502	ENSP00000245255:R502Q	ENSP00000245255:R502Q	R	+	2	0	PIWIL1	129407516	1.000000	0.71417	0.268000	0.24571	0.707000	0.40811	6.546000	0.73887	2.512000	0.84698	0.655000	0.94253	CGA		0.348	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1		
HEATR4	399671	broad.mit.edu	37	14	73974950	73974950	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr14:73974950C>T	ENST00000553558.1	-	9	2090	c.1769G>A	c.(1768-1770)gGt>gAt	p.G590D	HEATR4_ENST00000560393.1_Missense_Mutation_p.G543D|HEATR4_ENST00000334988.2_Missense_Mutation_p.G590D	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	590										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AGTAGCAGTACCTTCCAGAGC	0.478																																						uc021rwe.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1768-1770)gGt>gAt		Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.							148.0	139.0	142.0					14																	73974950		2203	4300	6503	SO:0001583	missense	399671							g.chr14:73974950C>T	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.1769G>A	14.37:g.73974950C>T	ENSP00000450444:p.Gly590Asp					HEATR4_uc021rwf.1_Missense_Mutation_p.G543D|HEATR4_uc010tub.1_Missense_Mutation_p.G590D	p.G590D	NM_001220484	NP_001207413				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	8	2117	-								B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.1769G>A	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391855	0.83011	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.13420	2.59	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.56097	D	0.000031	T	0.35364	0.0929	L	0.55481	1.735	0.49130	D	0.999758	D	0.89917	1.0	D	0.91635	0.999	T	0.01428	-1.1357	10	0.62326	D	0.03	-13.13	18.4491	0.90696	0.0:1.0:0.0:0.0	.	590	Q86WZ0	HEAT4_HUMAN	D	590;543	ENSP00000450444:G590D	ENSP00000335447:G543D	G	-	2	0	HEATR4	73044703	0.994000	0.37717	0.996000	0.52242	0.910000	0.53928	4.977000	0.63792	2.651000	0.90000	0.563000	0.77884	GGT		0.478	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309	
B2M	567	broad.mit.edu	37	15	45007798	45007801	+	Frame_Shift_Del	DEL	TCTA	TCTA	-			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr15:45007798_45007801delTCTA	ENST00000558401.1	+	2	315_318	c.245_248delTCTA	c.(244-249)ttctatfs	p.FY82fs	B2M_ENST00000559916.1_Frame_Shift_Del_p.FY82fs|B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Frame_Shift_Del_p.FY82fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	82	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GACTGGTCTTTCTATCTCTTGTAC	0.436																																						uc001zuc.3																			0		p.F82V(1)|p.Y83*(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59						c.(244-249)ttctatfs		Homo sapiens beta-2-microglobulin (B2M), mRNA.																																				SO:0001589	frameshift_variant	567				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	g.chr15:45007798_45007801delTCTA	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.245_248delTCTA	15.37:g.45007798_45007801delTCTA	ENSP00000452780:p.Phe82fs					B2M_uc010uek.1_Frame_Shift_Del_p.F82fs|B2M_uc010bdx.1_Intron	p.F82fs	NM_004048	NP_004039	P61769	B2MG_HUMAN		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)	1	305_308	+		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	82			Ig-like C1-type.		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Frame_Shift_Del	DEL	ENST00000558401.1	37	c.245_248delTCTA	CCDS10113.1																																																																																				0.436	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048	
C15orf43	145645	broad.mit.edu	37	15	45249150	45249150	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr15:45249150G>C	ENST00000340827.3	+	2	138	c.121G>C	c.(121-123)Gat>Cat	p.D41H		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	41										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		GTTCAGCTGTGATGCCTCGCA	0.577																																						uc001zuk.3																			0				NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8						c.(121-123)Gat>Cat		Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA.							61.0	56.0	58.0					15																	45249150		2198	4298	6496	SO:0001583	missense	145645							g.chr15:45249150G>C	BC029537	CCDS10115.1	15q21.1	2006-02-03			ENSG00000167014	ENSG00000167014			28520	protein-coding gene	gene with protein product							Standard	NM_152448		Approved	MGC33951	uc001zuk.4	Q8NHR7	OTTHUMG00000131264	ENST00000340827.3:c.121G>C	15.37:g.45249150G>C	ENSP00000340644:p.Asp41His						p.D41H	NM_152448	NP_689661	Q8NHR7	CO043_HUMAN		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)	1	135	+		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)	41						Missense_Mutation	SNP	ENST00000340827.3	37	c.121G>C	CCDS10115.1	.	.	.	.	.	.	.	.	.	.	-	15.31	2.794627	0.50102	.	.	ENSG00000167014	ENST00000340827	T	0.68181	-0.31	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000014	T	0.72977	0.3528	L	0.34521	1.04	0.40402	D	0.979657	D	0.89917	1.0	D	0.91635	0.999	T	0.76011	-0.3115	10	0.87932	D	0	.	13.6092	0.62065	0.0:0.0:1.0:0.0	.	41	Q8NHR7	CO043_HUMAN	H	41	ENSP00000340644:D41H	ENSP00000340644:D41H	D	+	1	0	C15orf43	43036442	1.000000	0.71417	0.972000	0.41901	0.159000	0.22180	4.901000	0.63259	2.666000	0.90696	0.643000	0.83706	GAT		0.577	C15orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254032.1	NM_152448	
CYP11A1	1583	broad.mit.edu	37	15	74637444	74637444	+	Missense_Mutation	SNP	G	G	A	rs121912811		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr15:74637444G>A	ENST00000268053.6	-	3	720	c.566C>T	c.(565-567)gCg>gTg	p.A189V	CYP11A1_ENST00000541301.1_Intron|CYP11A1_ENST00000419019.2_Missense_Mutation_p.A31V|CYP11A1_ENST00000358632.4_Missense_Mutation_p.A31V	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	189			A -> V (in AICSR; no loss of activity). {ECO:0000269|PubMed:12161514}.		biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	TCCGGAGCCCGCCTTCTTGAT	0.587																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	uc002axt.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	GRCh37	CS021747	CYP11A1	S	rs121912811	c.(565-567)gCg>gTg		Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						90.0	86.0	87.0					15																	74637444		2197	4296	6493	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74637444G>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.566C>T	15.37:g.74637444G>A	ENSP00000268053:p.Ala189Val					CYP11A1_uc002axs.2_Missense_Mutation_p.A31V|CYP11A1_uc010bjm.1_Missense_Mutation_p.A31V|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010bjp.1_5'Flank|CYP11A1_uc010ulj.1_Intron|CYP11A1_uc010bjq.3_Missense_Mutation_p.A189V	p.A189V	NM_000781	NP_001093243	P05108	CP11A_HUMAN			2	721	-			189		A -> V (in AICSR; no loss of activity).			A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.566C>T	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	G	9.259	1.042817	0.19748	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000450547	T;T;T	0.70045	-0.45;-0.45;-0.45	4.51	2.13	0.27403	.	0.304029	0.39146	N	0.001456	T	0.41488	0.1161	N	0.24115	0.695	0.23371	A	0.00218893	P;P;P	0.41710	0.76;0.672;0.63	B;B;B	0.34138	0.063;0.176;0.032	T	0.50224	-0.8853	9	0.56958	D	0.05	-5.1371	2.351	0.04283	0.0:0.2503:0.3544:0.3953	.	189;159;189	E7EPP8;B4DTE5;P05108	.;.;CP11A_HUMAN	V	189;31;31;101	ENSP00000268053:A189V;ENSP00000351455:A31V;ENSP00000405488:A31V	ENSP00000268053:A189V	A	-	2	0	CYP11A1	72424497	0.739000	0.28196	0.253000	0.24343	0.001000	0.01503	0.973000	0.29422	0.595000	0.29777	-0.281000	0.10026	GCG		0.587	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1		
DNM1P47	100216544	broad.mit.edu	37	15	102292811	102292811	+	RNA	SNP	C	C	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr15:102292811C>A	ENST00000561463.1	+	0	857									DNM1 pseudogene 47									p.R133R(1)									CCTGCACTCGCGTGGGAACGA	0.607																																						uc010usj.2																			1	Substitution - coding silent(1)	p.R133R(1)	prostate(1)								c.(397-399)cgC>cgA		Homo sapiens cDNA clone IMAGE:40009338.																																						100216544							g.chr15:102292811C>A	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292811C>A						DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank	p.R133R							3	458	+									Silent	SNP	ENST00000561463.1	37	c.399C>A																																																																																					0.607	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149	
ZNF213	7760	broad.mit.edu	37	16	3187509	3187509	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr16:3187509C>T	ENST00000396878.3	+	2	703	c.228C>T	c.(226-228)ccC>ccT	p.P76P	ZNF213_ENST00000416391.2_5'UTR|RP11-473M20.14_ENST00000571449.1_RNA|RP11-473M20.14_ENST00000576590.1_RNA|RP11-473M20.14_ENST00000575089.1_RNA|RP11-473M20.14_ENST00000571963.1_RNA|ZNF213_ENST00000574902.1_Silent_p.P76P|ZNF213_ENST00000576416.1_Silent_p.P76P	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	76	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GGCTGCGGCCCGAGCTGCGTA	0.662																																						uc010uws.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						c.(226-228)ccC>ccT		Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA.							34.0	38.0	37.0					16																	3187509		2193	4294	6487	SO:0001819	synonymous_variant	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3187509C>T	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.228C>T	16.37:g.3187509C>T						ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_Silent_p.P76P|ZNF213_uc010bth.3_Silent_p.P76P|ZNF213_uc010uwt.2_Silent_p.P76P	p.P76P	NM_004220	NP_004211	O14771	ZN213_HUMAN			1	675	+			76			SCAN box.		A8K1B9|B4DMG6|Q96IS1	Silent	SNP	ENST00000396878.3	37	c.228C>T	CCDS10495.1																																																																																				0.662	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220	
CLN3	1201	broad.mit.edu	37	16	28489096	28489096	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr16:28489096C>T	ENST00000569430.1	-	16	1978	c.1159G>A	c.(1159-1161)Gca>Aca	p.A387T	CLN3_ENST00000395653.4_Missense_Mutation_p.A287T|CLN3_ENST00000354630.5_Missense_Mutation_p.A370T|CLN3_ENST00000333496.9_Missense_Mutation_p.A363T|CLN3_ENST00000359984.7_Missense_Mutation_p.A387T|CLN3_ENST00000565316.1_Missense_Mutation_p.A370T|CLN3_ENST00000357806.7_Missense_Mutation_p.A288T|CLN3_ENST00000535392.1_Missense_Mutation_p.A309T|CLN3_ENST00000568224.1_Missense_Mutation_p.A309T|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000357857.9_Missense_Mutation_p.A333T|CLN3_ENST00000360019.2_Missense_Mutation_p.A387T|CLN3_ENST00000355477.5_Missense_Mutation_p.A339T			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	387					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						ACGTAGGCTGCGCCTCCCAGG	0.612																																						uc002dpo.3																			0				breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						c.(1159-1161)Gca>Aca		Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA.							89.0	91.0	90.0					16																	28489096		2197	4300	6497	SO:0001583	missense	1201				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	g.chr16:28489096C>T	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.1159G>A	16.37:g.28489096C>T	ENSP00000454229:p.Ala387Thr					NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Missense_Mutation_p.A309T|CLN3_uc002dpm.3_Missense_Mutation_p.A333T|CLN3_uc010vcu.2_Missense_Mutation_p.A287T|CLN3_uc010vcv.2_Missense_Mutation_p.A363T|CLN3_uc002dpp.3_Missense_Mutation_p.A387T|CLN3_uc021tfs.1_Missense_Mutation_p.A234T|CLN3_uc002dpt.1_Missense_Mutation_p.A287T|CLN3_uc002dpq.1_Missense_Mutation_p.A339T|CLN3_uc010bye.1_Missense_Mutation_p.A370T|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Missense_Mutation_p.A260T|CLN3_uc002dpu.1_Missense_Mutation_p.A285T	p.A387T	NM_000086	NP_001035897	Q13286	CLN3_HUMAN			13	1482	-			387					B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	37	c.1159G>A	CCDS10632.1	.	.	.	.	.	.	.	.	.	.	c	31	5.085354	0.94100	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000395653;ENST00000357806	D;D;D;D;D;D;D;D	0.97791	-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54	5.29	5.29	0.74685	Major facilitator superfamily domain, general substrate transporter (1);	0.112592	0.64402	D	0.000016	D	0.98738	0.9576	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.998;0.999;0.999;0.995;0.998;0.995;1.0	D	0.99470	1.0945	10	0.56958	D	0.05	-8.1125	16.4287	0.83833	0.0:1.0:0.0:0.0	.	363;370;285;287;333;339;387;288	B4DXL3;Q13286-3;O95086;B4DMY6;B4DFF3;Q13286-2;Q13286;O95089	.;.;.;.;.;.;CLN3_HUMAN;.	T	309;387;387;370;339;333;287;288	ENSP00000443221:A309T;ENSP00000353073:A387T;ENSP00000353116:A387T;ENSP00000346650:A370T;ENSP00000347660:A339T;ENSP00000350523:A333T;ENSP00000379014:A287T;ENSP00000350457:A288T	ENSP00000346650:A370T	A	-	1	0	CLN3	28396597	1.000000	0.71417	0.162000	0.22713	0.942000	0.58702	4.762000	0.62250	2.487000	0.83934	0.556000	0.70494	GCA		0.612	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2		
ORAI3	93129	broad.mit.edu	37	16	30960835	30960835	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr16:30960835C>T	ENST00000318663.4	+	1	449	c.225C>T	c.(223-225)gcC>gcT	p.A75A	ORAI3_ENST00000562699.1_Silent_p.A75A|ORAI3_ENST00000566237.1_Silent_p.A75A|AC135048.13_ENST00000566056.1_RNA	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	75					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CGGGCTTCGCCATGGTGAGGG	0.692																																						uc002eac.3																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(223-225)gcC>gcT		Homo sapiens ORAI calcium release-activated calcium modulator 3 (ORAI3), mRNA.							6.0	7.0	7.0					16																	30960835		1988	4041	6029	SO:0001819	synonymous_variant	93129					integral to membrane	protein binding	g.chr16:30960835C>T	BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"""ORAI calcium release-activated calcium modulators"""	28185	protein-coding gene	gene with protein product		610930	"""transmembrane protein 142C"""	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.225C>T	16.37:g.30960835C>T							p.A75A	NM_152288	NP_689501	Q9BRQ5	ORAI3_HUMAN			0	431	+			75					Q96BI8	Silent	SNP	ENST00000318663.4	37	c.225C>T	CCDS10697.1																																																																																				0.692	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20	NM_152288	
CHST5	23563	broad.mit.edu	37	16	75563755	75563755	+	Silent	SNP	C	C	T	rs77436937		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr16:75563755C>T	ENST00000336257.3	-	3	1922	c.528G>A	c.(526-528)acG>acA	p.T176T	CHST5_ENST00000541075.1_Silent_p.T182T|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	176					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						ATGGCTGCCGCGTGCACAGTG	0.667																																						uc002fej.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(544-546)acG>acA		Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.							96.0	102.0	100.0					16																	75563755		2197	4299	6496	SO:0001819	synonymous_variant	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563755C>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.528G>A	16.37:g.75563755C>T						CHST5_uc002fei.3_Silent_p.T176T|CHST5_uc021tlk.1_Silent_p.T176T	p.T182T	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN			4	867	-			176					B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	c.546G>A	CCDS10919.1																																																																																				0.667	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126	
SLC13A5	284111	broad.mit.edu	37	17	6604344	6604344	+	Missense_Mutation	SNP	T	T	G	rs77405963		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:6604344T>G	ENST00000433363.2	-	6	1051	c.818A>C	c.(817-819)cAg>cCg	p.Q273P	SLC13A5_ENST00000381074.4_Missense_Mutation_p.Q230P|SLC13A5_ENST00000573648.1_Missense_Mutation_p.Q273P|SLC13A5_ENST00000293800.6_Missense_Mutation_p.Q256P	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	273					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GTAAACAAACTGGAGCCACAG	0.473																																						uc002gdj.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.(817-819)cAg>cCg		Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.							80.0	68.0	72.0					17																	6604344		2203	4300	6503	SO:0001583	missense	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6604344T>G	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.818A>C	17.37:g.6604344T>G	ENSP00000406220:p.Gln273Pro					SLC13A5_uc010clq.3_Missense_Mutation_p.Q230P|SLC13A5_uc002gdk.3_Missense_Mutation_p.Q256P|SLC13A5_uc010vtf.2_Missense_Mutation_p.Q273P|SLC13A5_uc002gdl.1_Missense_Mutation_p.Q255P	p.Q273P	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN			5	906	-			273					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	ENST00000433363.2	37	c.818A>C	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.533480	0.27387	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T;T	0.03272	3.99;3.99	5.2	0.208	0.15221	.	0.347275	0.34802	N	0.003678	T	0.17365	0.0417	M	0.93150	3.385	0.46586	D	0.999115	P;P;P;P;P	0.44260	0.732;0.821;0.732;0.732;0.83	P;P;P;P;P	0.61003	0.882;0.776;0.857;0.781;0.87	T	0.00184	-1.1944	10	0.72032	D	0.01	.	5.0807	0.14655	0.396:0.0795:0.0:0.5245	.	273;230;230;256;273	B7ZLB4;F8W7N2;B7Z4P2;B3KXR0;Q86YT5	.;.;.;.;S13A5_HUMAN	P	273;273;230	ENSP00000406220:Q273P;ENSP00000370464:Q230P	ENSP00000293800:Q273P	Q	-	2	0	SLC13A5	6545068	1.000000	0.71417	0.169000	0.22859	0.009000	0.06853	3.142000	0.50601	-0.185000	0.10550	-2.699000	0.00136	CAG		0.473	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550	
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:7577127C>T	ENST00000269305.4	-	8	1000	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_ENST00000420246.2_Missense_Mutation_p.E271K|TP53_ENST00000455263.2_Missense_Mutation_p.E271K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000359597.4_Missense_Mutation_p.E271K	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	271	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and 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.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(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)	ACACGCACCTCAAAGCTGTTC	0.537		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)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		74	Substitution - Missense(34)|Substitution - Nonsense(18)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)|Insertion - Frameshift(1)	p.E271K(54)|p.E271*(34)|p.F270L(23)|p.F270C(16)|p.E271Q(9)|p.F270S(8)|p.0?(8)|p.F270V(7)|p.E271V(6)|p.F270Y(5)|p.F270I(4)|p.G266_E271delGRNSFE(4)|p.E271G(3)|p.E271D(3)|p.G262_F270delGNLLGRNSF(2)|p.E271_R273delEVR(2)|p.F270fs*72(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.S269_F270>I(2)|p.E271P(2)|p.E271del(2)|p.E271fs*34(2)|p.E271fs*35(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271fs*74(1)|p.S269_F270insX(1)|p.S269fs*21(1)|p.S269fs*34(1)	urinary_tract(16)|lung(10)|oesophagus(7)|breast(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(3)|ovary(2)|cervix(1)|biliary_tract(1)|salivary_gland(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(811-813)Gag>Aag	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							58.0	51.0	54.0					17																	7577127		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.chr17:7577127C>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.811G>A	17.37:g.7577127C>T	ENSP00000269305:p.Glu271Lys	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_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.E271K	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1005	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	271		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|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	Missense_Mutation	SNP	ENST00000269305.4	37	c.811G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	35	5.512978	0.96402	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.13	5.13	0.70059	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	0.99849	0.9930	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.993;0.999;1.0	D	0.96522	0.9386	10	0.87932	D	0	-38.0695	16.1198	0.81342	0.0:1.0:0.0:0.0	.	271;271;271;271	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	271;271;271;271;271;260;139	ENSP00000352610:E271K;ENSP00000269305:E271K;ENSP00000398846:E271K;ENSP00000391127:E271K;ENSP00000391478:E271K;ENSP00000425104:E139K	ENSP00000269305:E271K	E	-	1	0	TP53	7517852	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)	CCTTCCACTCGGATAAGATGC	0.552		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)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(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	CM941329	TP53	M		c.(586-588)Cga>Tga	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							102.0	91.0	94.0					17																	7578263		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.chr17:7578263G>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.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	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_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	p.R196*	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	780	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MYH13	8735	broad.mit.edu	37	17	10206539	10206539	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:10206539A>G	ENST00000418404.3	-	38	5804	c.5641T>C	c.(5641-5643)Tct>Cct	p.S1881P	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.S1881P			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1881					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCTTGTAAGACTTCACTTTG	0.612																																						uc002gmk.1																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(5641-5643)Tct>Cct		Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.							141.0	146.0	145.0					17																	10206539		2130	4263	6393	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10206539A>G	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5641T>C	17.37:g.10206539A>G	ENSP00000404570:p.Ser1881Pro						p.S1881P	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			38	5731	-			1881					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5641T>C	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.125978	0.56721	.	.	ENSG00000006788	ENST00000252172	T	0.78364	-1.17	3.81	-3.18	0.05186	Myosin tail (1);	.	.	.	.	D	0.82903	0.5138	M	0.89904	3.07	0.31441	N	0.67191	B	0.20261	0.043	B	0.41440	0.357	T	0.80754	-0.1241	9	0.72032	D	0.01	.	6.2211	0.20681	0.4435:0.3879:0.0:0.1687	.	1881	Q9UKX3	MYH13_HUMAN	P	1881	ENSP00000252172:S1881P	ENSP00000252172:S1881P	S	-	1	0	MYH13	10147264	0.000000	0.05858	0.773000	0.31616	0.923000	0.55619	-0.712000	0.05013	-0.787000	0.04510	-0.488000	0.04728	TCT		0.612	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
CCDC144A	9720	broad.mit.edu	37	17	16593762	16593762	+	Silent	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:16593762G>A	ENST00000360524.8	+	1	124	c.48G>A	c.(46-48)ccG>ccA	p.P16P	CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000340621.5_Silent_p.P16P|CCDC144A_ENST00000456009.1_Silent_p.P16P|RNU6-405P_ENST00000516637.1_RNA|RP11-219A15.1_ENST00000448331.3_Silent_p.P16P|CCDC144A_ENST00000443444.2_Silent_p.P16P|CCDC144A_ENST00000399273.1_Silent_p.P16P	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	16								p.P16P(1)									AGGGGTCTCCGAAGCCGGCAG	0.672																																						uc002gqk.1																			1	Substitution - coding silent(1)	p.P16P(1)	urinary_tract(1)								c.(46-48)ccG>ccA		Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.							19.0	22.0	21.0					17																	16593762		2202	4300	6502	SO:0001819	synonymous_variant	9720							g.chr17:16593762G>A	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.48G>A	17.37:g.16593762G>A							p.P16P	NM_014695	NP_055510	A2RUR9	C144A_HUMAN			0	124	+			16					O60311|Q6ZU57	Silent	SNP	ENST00000360524.8	37	c.48G>A	CCDS45621.1																																																																																				0.672	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1		
HELZ	9931	broad.mit.edu	37	17	65104714	65104714	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:65104714G>A	ENST00000358691.5	-	30	4784	c.4618C>T	c.(4618-4620)Ctc>Ttc	p.L1540F	HELZ_ENST00000580168.1_Missense_Mutation_p.L1541F	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1540						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGATGCTGGAGGTGAGGATGG	0.577																																						uc010wqk.2																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4621-4623)Ctc>Ttc		Homo sapiens helicase with zinc finger (HELZ), mRNA.							114.0	131.0	125.0					17																	65104714		2190	4267	6457	SO:0001583	missense	9931							g.chr17:65104714G>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.4618C>T	17.37:g.65104714G>A	ENSP00000351524:p.Leu1540Phe					HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.L1540F|HELZ_uc010der.3_Missense_Mutation_p.L84F	p.L1541F	NM_014877	NP_055692					29	4808	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.4621C>T	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044857	0.36085	.	.	ENSG00000198265	ENST00000358691	D	0.88586	-2.4	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.91012	0.7173	L	0.36672	1.1	0.54753	D	0.999989	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.991	D	0.91526	0.5238	10	0.66056	D	0.02	-11.0694	13.2324	0.59951	0.0762:0.0:0.9238:0.0	.	1541;1540	B7ZLW2;P42694	.;HELZ_HUMAN	F	1540	ENSP00000351524:L1540F	ENSP00000351524:L1540F	L	-	1	0	HELZ	62535176	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.099000	0.64554	2.462000	0.83206	0.551000	0.68910	CTC		0.577	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877	
DSG1	1828	broad.mit.edu	37	18	28934952	28934952	+	Silent	SNP	C	C	T	rs147922509	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr18:28934952C>T	ENST00000257192.4	+	15	3005	c.2793C>T	c.(2791-2793)tcC>tcT	p.S931S	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Silent_p.S290S	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	931					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AACCAACTTCCGGCATGATAG	0.463													C|||	3	0.000599042	0.0023	0.0	5008	,	,		23942	0.0		0.0	False		,,,				2504	0.0					uc002kwp.3																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2791-2793)tcC>tcT		Homo sapiens desmoglein 1 (DSG1), mRNA.		C		5,4401	9.9+/-24.2	0,5,2198	232.0	224.0	226.0		2793	2.2	1.0	18	dbSNP_134	226	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DSG1	NM_001942.2		0,6,6497	TT,TC,CC		0.0116,0.1135,0.0461		931/1050	28934952	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28934952C>T	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2793C>T	18.37:g.28934952C>T						DSG1_uc010xbp.2_Silent_p.S290S	p.S931S	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		14	3005	+			931					B7Z845	Silent	SNP	ENST00000257192.4	37	c.2793C>T	CCDS11896.1																																																																																				0.463	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942	
STXBP2	6813	broad.mit.edu	37	19	7707328	7707328	+	Missense_Mutation	SNP	G	G	A	rs187320742	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:7707328G>A	ENST00000221283.5	+	10	839	c.808G>A	c.(808-810)Ggg>Agg	p.G270R	STXBP2_ENST00000441779.2_Missense_Mutation_p.G281R|STXBP2_ENST00000414284.2_Missense_Mutation_p.G267R	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	270					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGAGACCACCGGGCTGAGCGA	0.632																																						uc010xjr.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(841-843)Ggg>Agg		Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.							130.0	134.0	132.0					19																	7707328		2203	4300	6503	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7707328G>A	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.808G>A	19.37:g.7707328G>A	ENSP00000221283:p.Gly270Arg					STXBP2_uc002mha.4_Missense_Mutation_p.G270R|STXBP2_uc002mhb.4_Missense_Mutation_p.G267R|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_5'Flank	p.G281R	NM_006949	NP_008880	Q15833	STXB2_HUMAN			9	886	+			270					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.841G>A	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060546	0.55432	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.77877	-1.13;-1.13;-1.13	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.87849	0.6281	M	0.83012	2.62	0.80722	D	1	D;D;D;D	0.76494	0.999;0.994;0.998;0.999	D;P;P;D	0.67231	0.926;0.845;0.879;0.95	D	0.89853	0.4011	10	0.72032	D	0.01	-6.1005	15.1021	0.72288	0.0:0.0:1.0:0.0	.	281;236;267;270	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	R	270;267;281;270	ENSP00000221283:G270R;ENSP00000409471:G267R;ENSP00000413606:G281R	ENSP00000221283:G270R	G	+	1	0	STXBP2	7613328	1.000000	0.71417	0.078000	0.20375	0.018000	0.09664	6.700000	0.74619	2.147000	0.66899	0.591000	0.81541	GGG		0.632	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949	
ATG4D	84971	broad.mit.edu	37	19	10659590	10659590	+	Silent	SNP	G	G	A	rs531176373		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:10659590G>A	ENST00000309469.4	+	6	1019	c.846G>A	c.(844-846)gcG>gcA	p.A282A	ATG4D_ENST00000540862.1_Intron|RNU7-140P_ENST00000459546.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	282					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGTACAAGGCGGATGTGGCAC	0.647																																						uc002mov.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19						c.(844-846)gcG>gcA		Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.							94.0	79.0	84.0					19																	10659590		2203	4300	6503	SO:0001819	synonymous_variant	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10659590G>A	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.846G>A	19.37:g.10659590G>A						ATG4D_uc010xlh.2_Silent_p.A219A|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Non-coding_Transcript|ATG4D_uc010dxj.3_Intron	p.A282A	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		5	966	+			282					Q969K0	Silent	SNP	ENST00000309469.4	37	c.846G>A	CCDS12241.1																																																																																				0.647	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885	
ZNF676	163223	broad.mit.edu	37	19	22363176	22363176	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:22363176G>T	ENST00000397121.2	-	3	1660	c.1343C>A	c.(1342-1344)cCc>cAc	p.P448H		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	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)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACATTTGTAGGGTTTCTCTCC	0.433																																						uc002nqs.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1342-1344)cCc>cAc		Homo sapiens zinc finger protein 676 (ZNF676), mRNA.							100.0	103.0	102.0					19																	22363176		2126	4254	6380	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363176G>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1343C>A	19.37:g.22363176G>T	ENSP00000380310:p.Pro448His						p.P448H	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			2	1661	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	448					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1343C>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	13.55	2.270452	0.40194	.	.	ENSG00000196109	ENST00000397121	T	0.17528	2.27	0.85	0.85	0.18980	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39064	0.1064	M	0.90814	3.15	0.32594	N	0.526855	D	0.69078	0.997	P	0.61874	0.895	T	0.49184	-0.8966	9	0.66056	D	0.02	.	5.1401	0.14954	0.0:0.0:0.6581:0.3418	.	448	Q8N7Q3	ZN676_HUMAN	H	448	ENSP00000380310:P448H	ENSP00000380310:P448H	P	-	2	0	ZNF676	22155016	0.952000	0.32445	0.103000	0.21229	0.103000	0.19146	2.952000	0.49097	0.192000	0.20272	0.195000	0.17529	CCC		0.433	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
GRIK5	2901	broad.mit.edu	37	19	42558502	42558502	+	Silent	SNP	G	G	A	rs140981334	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:42558502G>A	ENST00000262895.3	-	8	1025	c.1026C>T	c.(1024-1026)caC>caT	p.H342H	GRIK5_ENST00000593562.1_Silent_p.H342H|GRIK5_ENST00000301218.4_Silent_p.H342H	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	342					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GGCTGGTCCCGTGGGGCCAAA	0.652													G|||	2	0.000399361	0.0	0.0	5008	,	,		19044	0.001		0.001	False		,,,				2504	0.0					uc002osj.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1024-1026)caC>caT		Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	L-Glutamic Acid(DB00142)						85.0	69.0	75.0					19																	42558502		2203	4300	6503	SO:0001819	synonymous_variant	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42558502G>A		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1026C>T	19.37:g.42558502G>A						GRIK5_uc010eib.1_Silent_p.H261H	p.H342H	NM_002088	NP_002079	Q16478	GRIK5_HUMAN			7	1061	-		Prostate(69;0.059)	342					Q8WWG8	Silent	SNP	ENST00000262895.3	37	c.1026C>T	CCDS12595.1																																																																																				0.652	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1		
ZNF28	7576	broad.mit.edu	37	19	53303413	53303413	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:53303413C>T	ENST00000457749.2	-	4	1804	c.1685G>A	c.(1684-1686)cGc>cAc	p.R562H	ZNF28_ENST00000360272.4_Missense_Mutation_p.R509H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R509H|ZNF28_ENST00000438150.2_Missense_Mutation_p.R509H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	562					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)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTGTGATTTGCGACTGAAAAC	0.413																																						uc002qad.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1684-1686)cGc>cAc		Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.							106.0	102.0	103.0					19																	53303413		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303413C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1685G>A	19.37:g.53303413C>T	ENSP00000397693:p.Arg562His					ZNF28_uc002qac.3_Missense_Mutation_p.R508H|ZNF28_uc010eqe.3_Missense_Mutation_p.R508H|ZNF28_uc021uza.1_Missense_Mutation_p.R509H	p.R562H	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	3	1842	-			562					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1685G>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	0.023	-1.397880	0.01175	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	1.61	-3.23	0.05109	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	L	0.28054	0.825	0.09310	N	1	B	0.23185	0.081	B	0.09377	0.004	T	0.44329	-0.9335	9	0.10111	T	0.7	.	1.3099	0.02095	0.1329:0.3315:0.2293:0.3063	.	562	P17035	ZNF28_HUMAN	H	509;562;509;509;509	ENSP00000412143:R509H;ENSP00000397693:R562H;ENSP00000353410:R509H;ENSP00000444965:R509H;ENSP00000375661:R509H	ENSP00000353410:R509H	R	-	2	0	ZNF28	57995225	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-6.084000	0.00082	-2.531000	0.00491	-0.490000	0.04691	CGC		0.413	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969	
CACNG8	59283	broad.mit.edu	37	19	54466519	54466519	+	Silent	SNP	T	T	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:54466519T>G	ENST00000270458.2	+	1	226	c.123T>G	c.(121-123)acT>acG	p.T41T		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	41					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CCATCAGCACTGACTACTGGC	0.711																																						uc002qcs.2																			0				kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13						c.(121-123)acT>acG		Homo sapiens calcium channel, voltage-dependent, gamma subunit 8 (CACNG8), mRNA.							41.0	39.0	40.0					19																	54466519		2203	4300	6503	SO:0001819	synonymous_variant	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54466519T>G	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.123T>G	19.37:g.54466519T>G							p.T41T	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	0	230	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		41					Q9BXT0|Q9BY23	Silent	SNP	ENST00000270458.2	37	c.123T>G	CCDS33104.1																																																																																				0.711	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3		
NLRP4	147945	broad.mit.edu	37	19	56370584	56370584	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:56370584G>A	ENST00000301295.6	+	3	2247	c.1825G>A	c.(1825-1827)Gtc>Atc	p.V609I	NLRP4_ENST00000587891.1_Missense_Mutation_p.V534I|NLRP4_ENST00000346986.5_Missense_Mutation_p.V609I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	609					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.V609F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CGTTCAAAATGTCTTTAAGAA	0.408																																						uc002qmd.4																			1	Substitution - Missense(1)	p.V609F(2)	ovary(1)	breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(1825-1827)Gtc>Atc		Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.							67.0	63.0	64.0					19																	56370584		2203	4299	6502	SO:0001583	missense	147945						ATP binding	g.chr19:56370584G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1825G>A	19.37:g.56370584G>A	ENSP00000301295:p.Val609Ile					NLRP4_uc002qmf.3_Missense_Mutation_p.V534I|NLRP4_uc010etf.3_Missense_Mutation_p.V440I	p.V609I	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	2	2247	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	609					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1825G>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	7.130	0.579732	0.13686	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.52526	0.66;0.66	3.47	-3.15	0.05233	.	.	.	.	.	T	0.21227	0.0511	N	0.14661	0.345	0.09310	N	1	B;P;B	0.39181	0.144;0.663;0.282	B;B;B	0.33890	0.111;0.172;0.076	T	0.15292	-1.0442	9	0.26408	T	0.33	.	4.5558	0.12136	0.2574:0.3111:0.4315:0.0	.	609;534;609	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	I	609	ENSP00000301295:V609I;ENSP00000344787:V609I	ENSP00000301295:V609I	V	+	1	0	NLRP4	61062396	0.013000	0.17824	0.001000	0.08648	0.003000	0.03518	0.593000	0.23999	-0.467000	0.06932	0.591000	0.81541	GTC		0.408	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
PROC	5624	broad.mit.edu	37	2	128177527	128177527	+	Silent	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr2:128177527G>A	ENST00000234071.3	+	2	96	c.9G>A	c.(7-9)caG>caA	p.Q3Q	PROC_ENST00000409048.1_Silent_p.Q3Q|PROC_ENST00000422777.3_Silent_p.Q3Q|PROC_ENST00000453608.2_Silent_p.Q24Q	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	3					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GAATGTGGCAGCTCACAAGCC	0.652																																						uc002tol.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(70-72)caG>caA		Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)						67.0	60.0	63.0					2																	128177527		2203	4300	6503	SO:0001819	synonymous_variant	5624				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	g.chr2:128177527G>A	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"""Endogenous ligands"""	9451	protein-coding gene	gene with protein product	"""prepro-protein C"""	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.9G>A	2.37:g.128177527G>A						PROC_uc002tok.3_Silent_p.Q3Q|PROC_uc010yzi.2_Silent_p.Q24Q|PROC_uc010yzj.2_5'UTR|PROC_uc010yzk.2_Silent_p.Q24Q	p.Q24Q	NM_000312	NP_000303	P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	1	99	+	Colorectal(110;0.1)		3					B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Silent	SNP	ENST00000234071.3	37	c.72G>A	CCDS2145.1																																																																																				0.652	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312	
SPEG	10290	broad.mit.edu	37	2	220349266	220349266	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr2:220349266G>A	ENST00000312358.7	+	30	7213	c.7081G>A	c.(7081-7083)Ggc>Agc	p.G2361S	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2361	Arg-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGAGGAGCGCGGCCCCTTCCG	0.731																																						uc010fwg.3																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(7081-7083)Ggc>Agc		Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.							6.0	7.0	6.0					2																	220349266		1557	3581	5138	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220349266G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.7081G>A	2.37:g.220349266G>A	ENSP00000311684:p.Gly2361Ser						p.G2361S	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	29	7081	+		Renal(207;0.0183)	2361			Arg-rich.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.7081G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441573	0.43326	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.60797	0.16	4.15	4.15	0.48705	.	0.000000	0.39544	N	0.001340	T	0.26702	0.0653	N	0.04508	-0.205	0.31087	N	0.711298	B	0.24721	0.11	B	0.09377	0.004	T	0.20240	-1.0281	10	0.12103	T	0.63	.	6.3001	0.21107	0.1027:0.2557:0.6416:0.0	.	2361	Q15772	SPEG_HUMAN	S	2361	ENSP00000311684:G2361S	ENSP00000265327:G2361S	G	+	1	0	SPEG	220057510	0.999000	0.42202	1.000000	0.80357	0.926000	0.56050	3.132000	0.50523	2.136000	0.66102	0.462000	0.41574	GGC		0.731	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
IQCA1	79781	broad.mit.edu	37	2	237374203	237374203	+	Missense_Mutation	SNP	C	C	T	rs201265396	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr2:237374203C>T	ENST00000409907.3	-	6	1145	c.871G>A	c.(871-873)Gtg>Atg	p.V291M	IQCA1_ENST00000431676.2_Missense_Mutation_p.V291M|IQCA1_ENST00000309507.5_Missense_Mutation_p.V287M	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	291							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTGATATCCACGCCTTCTATC	0.473													C|||	2	0.000399361	0.0	0.0	5008	,	,		19767	0.0		0.001	False		,,,				2504	0.001					uc002vwb.2																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						c.(892-894)Gtg>Atg		Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.		C	MET/VAL	2,3994		0,2,1996	165.0	156.0	159.0		871	-3.1	0.0	2		159	0,8308		0,0,4154	yes	missense	IQCA1	NM_024726.3	21	0,2,6150	TT,TC,CC		0.0,0.0501,0.0163	benign	291/823	237374203	2,12302	1998	4154	6152	SO:0001583	missense	79781						ATP binding	g.chr2:237374203C>T	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.871G>A	2.37:g.237374203C>T	ENSP00000387347:p.Val291Met					IQCA1_uc002vvz.1_Missense_Mutation_p.V291M|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.V291M	p.V298M	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN			5	926	-			291					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	c.892G>A	CCDS46549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.00|11.00	1.511295|1.511295	0.27036|0.27036	5.01E-4|5.01E-4	0.0|0.0	ENSG00000132321|ENSG00000132321	ENST00000418802|ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	.|D;D;D	.|0.93859	.|-3.17;-3.16;-3.3	5.37|5.37	-3.11|-3.11	0.05299|0.05299	.|.	.|1.294630	.|0.05158	.|N	.|0.497235	D|D	0.85062|0.85062	0.5611|0.5611	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.28208	.|0.091;0.12;0.203	.|B;B;B	.|0.12837	.|0.005;0.008;0.008	T|T	0.71642|0.71642	-0.4531|-0.4531	5|10	.|0.62326	.|D	.|0.03	.|.	14.0435|14.0435	0.64690|0.64690	0.0:0.491:0.3079:0.2011|0.0:0.491:0.3079:0.2011	.|.	.|291;298;291	.|E7EWQ0;E9PH78;Q86XH1	.|.;.;IQCA1_HUMAN	H|M	309|291;298;287;291;287	.|ENSP00000387347:V291M;ENSP00000311951:V287M;ENSP00000407213:V291M	.|ENSP00000254653:V291M	R|V	-|-	2|1	0|0	IQCA1|IQCA1	237038942|237038942	0.004000|0.004000	0.15560|0.15560	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	0.345000|0.345000	0.19979|0.19979	-0.597000|-0.597000	0.05813|0.05813	-0.226000|-0.226000	0.12346|0.12346	CGT|GTG		0.473	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726	
DYNLRB1	83658	broad.mit.edu	37	20	33122583	33122583	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr20:33122583A>T	ENST00000357156.2	+	3	281	c.231A>T	c.(229-231)gaA>gaT	p.E77D	DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000374846.3_Missense_Mutation_p.E129D|DYNLRB1_ENST00000417166.2_Missense_Mutation_p.E77D	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	77					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(1)	3						AGAAAAATGAAATTATGGTTG	0.532																																						uc002xal.3																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(229-231)gaA>gaT		Homo sapiens dynein, light chain, roadblock-type 1 (DYNLRB1), mRNA.							87.0	73.0	77.0					20																	33122583		2203	4300	6503	SO:0001583	missense	83658				microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity	g.chr20:33122583A>T	AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"""Cytoplasmic dyneins"""	15468	protein-coding gene	gene with protein product	"""roadblock domain containing 1"""	607167	"""dynein, cytoplasmic, light polypeptide 2A"""	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.231A>T	20.37:g.33122583A>T	ENSP00000349679:p.Glu77Asp					DYNLRB1_uc010zuk.2_Missense_Mutation_p.E77D	p.E77D	NM_014183	NP_054902	Q9NP97	DLRB1_HUMAN			2	291	+			77					B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Missense_Mutation	SNP	ENST00000357156.2	37	c.231A>T	CCDS13235.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905476	0.72868	.	.	ENSG00000125971	ENST00000357156;ENST00000417166;ENST00000374846	T;T;T	0.36699	1.24;1.24;1.24	5.06	1.51	0.23008	.	0.000000	0.85682	D	0.000000	T	0.55862	0.1947	.	.	.	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.991	T	0.55927	-0.8063	9	0.59425	D	0.04	-16.5224	9.5018	0.39022	0.7578:0.0:0.2422:0.0	.	77;77	B4DFR2;Q9NP97	.;DLRB1_HUMAN	D	77;77;129	ENSP00000349679:E77D;ENSP00000409090:E77D;ENSP00000363979:E129D	ENSP00000349679:E77D	E	+	3	2	DYNLRB1	32586244	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.526000	0.35964	0.408000	0.25621	-0.274000	0.10170	GAA		0.532	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078791.1	NM_014183	
C21orf91	54149	broad.mit.edu	37	21	19169012	19169012	+	Missense_Mutation	SNP	C	C	T	rs200192230		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr21:19169012C>T	ENST00000400558.3	-	3	641	c.551G>A	c.(550-552)cGt>cAt	p.R184H	AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000493464.1_5'Flank|C21orf91_ENST00000400559.3_Missense_Mutation_p.R184H|C21orf91_ENST00000284881.4_Missense_Mutation_p.R184H	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91											endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		TACACTGTTACGACATAAAGT	0.433																																						uc002yko.4																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						c.(550-552)cGt>cAt		Homo sapiens chromosome 21 open reading frame 91 (C21orf91), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	0,3844		0,0,1922	150.0	143.0	145.0		551,551,551	-1.4	0.1	21		145	1,8227		0,1,4113	yes	missense,missense,missense	C21orf91	NM_001100420.1,NM_001100421.1,NM_017447.3	29,29,29	0,1,6035	TT,TC,CC		0.0122,0.0,0.0083	benign,benign,benign	184/298,184/222,184/297	19169012	1,12071	1922	4114	6036	SO:0001583	missense	54149							g.chr21:19169012C>T	AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"""cold sore susceptibility gene 1"", ""early undifferentiated retina and lens"""		"""chromosome 21 open reading frame 38"""	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.551G>A	21.37:g.19169012C>T	ENSP00000383403:p.Arg184His					C21orf91_uc002ykq.4_Missense_Mutation_p.R184H|C21orf91_uc002ykp.4_Missense_Mutation_p.R184H	p.R184H	NM_001100420	NP_001093890	Q9NYK6	EURL_HUMAN		Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)	2	642	-			184						Missense_Mutation	SNP	ENST00000400558.3	37	c.551G>A	CCDS42909.1	.	.	.	.	.	.	.	.	.	.	C	1.437	-0.568618	0.03910	0.0	1.22E-4	ENSG00000154642	ENST00000284881;ENST00000400559;ENST00000400558;ENST00000405964	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.43	-1.42	0.08913	.	0.577368	0.18749	N	0.132226	T	0.02455	0.0075	N	0.00436	-1.5	0.34123	D	0.664333	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43637	-0.9379	9	.	.	.	-0.8991	6.6957	0.23197	0.0:0.3841:0.1308:0.4852	.	184;184	Q9NYK6-3;Q9NYK6	.;EURL_HUMAN	H	184	ENSP00000284881:R184H;ENSP00000383404:R184H;ENSP00000383403:R184H;ENSP00000385566:R184H	.	R	-	2	0	C21orf91	18090883	0.611000	0.26992	0.113000	0.21522	0.829000	0.46940	0.141000	0.16076	-0.167000	0.10871	-0.385000	0.06624	CGT		0.433	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000158214.1	NM_017447	
WDR4	10785	broad.mit.edu	37	21	44296865	44296865	+	Silent	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr21:44296865G>A	ENST00000398208.2	-	2	161	c.102C>T	c.(100-102)agC>agT	p.S34S	WDR4_ENST00000330317.2_Silent_p.S34S|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		AGATGAAGAGGCTGTCATCAT	0.363																																						uc002zci.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11						c.(100-102)agC>agT		Homo sapiens WD repeat domain 4 (WDR4), transcript variant 2, mRNA.							91.0	85.0	87.0					21																	44296865		2203	4300	6503	SO:0001819	synonymous_variant	10785				tRNA modification	cytoplasm|nucleoplasm	protein binding	g.chr21:44296865G>A	AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"""WD repeat domain containing"""	12756	protein-coding gene	gene with protein product	"""TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"""	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.102C>T	21.37:g.44296865G>A						WDR4_uc002zck.1_Silent_p.S34S|WDR4_uc002zcl.1_5'UTR|WDR4_uc010gpg.1_Silent_p.S34S|WDR4_uc011aew.1_5'UTR|WDR4_uc010gph.1_5'UTR	p.S34S	NM_033661	NP_387510	P57081	WDR4_HUMAN		Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)	1	175	-			34						Silent	SNP	ENST00000398208.2	37	c.102C>T	CCDS13691.1																																																																																				0.363	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1		
RFPL3	10738	broad.mit.edu	37	22	32756314	32756314	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr22:32756314G>A	ENST00000249007.4	+	2	654	c.449G>A	c.(448-450)gGg>gAg	p.G150E	RFPL3_ENST00000382088.3_Missense_Mutation_p.G121E|RFPL3_ENST00000397468.1_Missense_Mutation_p.G121E|RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000461833.1_5'Flank	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	150	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GTCCGAAGTGGGCTCATCACA	0.542																																						uc003amj.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(448-450)gGg>gAg		Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.							150.0	133.0	139.0					22																	32756314		2203	4300	6503	SO:0001583	missense	10738						zinc ion binding	g.chr22:32756314G>A	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.449G>A	22.37:g.32756314G>A	ENSP00000249007:p.Gly150Glu					RFPL3_uc010gwn.3_Missense_Mutation_p.G121E|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript	p.G150E	NM_001098535	NP_006595	O75679	RFPL3_HUMAN			1	654	+			150			B30.2/SPRY.		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	c.449G>A	CCDS43011.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631920	0.29068	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.11063	2.81;2.81;2.81	0.664	-0.628	0.11537	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.21761	0.0524	M	0.61703	1.905	0.09310	N	0.999999	D	0.56035	0.974	D	0.64687	0.928	T	0.10200	-1.0640	9	0.54805	T	0.06	.	4.8667	0.13611	0.272:0.0:0.728:0.0	.	150	O75679	RFPL3_HUMAN	E	121;150;121	ENSP00000380609:G121E;ENSP00000249007:G150E;ENSP00000371520:G121E	ENSP00000249007:G150E	G	+	2	0	RFPL3	31086314	0.452000	0.25713	0.001000	0.08648	0.023000	0.10783	2.463000	0.45058	-0.224000	0.09928	0.194000	0.17425	GGG		0.542	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604	
EDEM1	9695	broad.mit.edu	37	3	5248941	5248941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:5248941delT	ENST00000256497.4	+	7	1454	c.1321delT	c.(1321-1323)tttfs	p.F442fs	EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	442					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTGCAGGCCTTTTTCCCTGG	0.463																																						uc003bqi.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1321-1323)tttfs		Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA.							155.0	149.0	151.0					3																	5248941		2203	4300	6503	SO:0001589	frameshift_variant	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5248941delT	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1321delT	3.37:g.5248941delT	ENSP00000256497:p.Phe442fs					EDEM1_uc011asz.1_Frame_Shift_Del_p.F219fs|EDEM1_uc021wsl.1_Frame_Shift_Del_p.F246fs	p.F441fs	NM_014674	NP_055489	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	6	1453	+			441					A8K9C8|B4DXP3	Frame_Shift_Del	DEL	ENST00000256497.4	37	c.1321delT	CCDS33686.1																																																																																				0.463	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674	
CSPG5	10675	broad.mit.edu	37	3	47619240	47619240	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:47619240C>T	ENST00000383738.2	-	2	2374	c.276G>A	c.(274-276)tcG>tcA	p.S92S	CSPG5_ENST00000264723.4_Silent_p.S92S|CSPG5_ENST00000465441.1_5'UTR|CSPG5_ENST00000456150.1_5'UTR	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	92					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCACCGCAGCCGACTCCTGCA	0.726																																						uc003crp.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(274-276)tcG>tcA		Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA.							25.0	31.0	29.0					3																	47619240		2178	4274	6452	SO:0001819	synonymous_variant	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47619240C>T	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.276G>A	3.37:g.47619240C>T						CSPG5_uc003crn.3_5'UTR|CSPG5_uc003cro.4_Silent_p.S92S|CSPG5_uc021wxh.1_Silent_p.S92S|CSPG5_uc021wxi.1_5'UTR|CSPG5_uc011bbb.2_5'UTR	p.S92S	NM_001206943	NP_001193872	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	1	452	-			92					Q71M39|Q71M40	Silent	SNP	ENST00000383738.2	37	c.276G>A	CCDS56253.1																																																																																				0.726	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574	
OR5K1	26339	broad.mit.edu	37	3	98188663	98188663	+	Missense_Mutation	SNP	G	G	A	rs188538173	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:98188663G>A	ENST00000332650.5	+	1	340	c.243G>A	c.(241-243)atG>atA	p.M81I		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCCCAAAATGTTAGAGAACT	0.413																																						uc003dsm.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(241-243)atG>atA		Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.							156.0	166.0	163.0					3																	98188663		2203	4299	6502	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188663G>A	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.243G>A	3.37:g.98188663G>A	ENSP00000373193:p.Met81Ile						p.M81I	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			0	243	+			81					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.243G>A	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	G	5.249	0.231413	0.09969	.	.	ENSG00000232382	ENST00000332650	T	0.01902	4.57	5.18	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000072	T	0.02767	0.0083	L	0.38838	1.175	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.35176	-0.9799	10	0.72032	D	0.01	-13.7312	12.1786	0.54199	0.0:0.0:0.8284:0.1716	.	81	Q8NHB7	OR5K1_HUMAN	I	81	ENSP00000373193:M81I	ENSP00000373193:M81I	M	+	3	0	OR5K1	99671353	0.001000	0.12720	0.160000	0.22671	0.280000	0.26924	0.007000	0.13174	2.413000	0.81919	0.563000	0.77884	ATG		0.413	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1		
SLC15A2	6565	broad.mit.edu	37	3	121647354	121647354	+	Silent	SNP	G	G	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:121647354G>T	ENST00000489711.1	+	15	1681	c.1293G>T	c.(1291-1293)gtG>gtT	p.V431V	SLC15A2_ENST00000295605.2_Silent_p.V400V|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	431					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TGACAGTGGTGGGAAATGAAA	0.443																																						uc003eep.2																			0				NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36						c.(1291-1293)gtG>gtT		Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	Cefadroxil(DB01140)						188.0	195.0	193.0					3																	121647354		2203	4300	6503	SO:0001819	synonymous_variant	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121647354G>T	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1293G>T	3.37:g.121647354G>T						SLC15A2_uc011bjn.1_Silent_p.V400V	p.V431V	NM_021082	NP_066568	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	14	1446	+			431					A8K1A5|B4E2A7	Silent	SNP	ENST00000489711.1	37	c.1293G>T	CCDS3007.1																																																																																				0.443	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082	
COPB2	9276	broad.mit.edu	37	3	139098010	139098010	+	Silent	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:139098010G>A	ENST00000333188.5	-	4	415	c.234C>T	c.(232-234)gaC>gaT	p.D78D	COPB2_ENST00000507777.1_Silent_p.D49D|COPB2_ENST00000510491.1_5'UTR	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	78					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TAATCTGCATGTCATCCTAGA	0.363																																						uc003etf.4																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(232-234)gaC>gaT		Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA.							80.0	79.0	79.0					3																	139098010		2203	4300	6503	SO:0001819	synonymous_variant	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139098010G>A	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.234C>T	3.37:g.139098010G>A						COPB2_uc011bmv.2_Silent_p.D49D|COPB2_uc010hui.3_Silent_p.D49D|COPB2_uc011bmw.1_Silent_p.D78D	p.D78D	NM_004766	NP_004757	P35606	COPB2_HUMAN			3	364	-			78					B4DZI8	Silent	SNP	ENST00000333188.5	37	c.234C>T	CCDS3108.1																																																																																				0.363	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766	
BST1	683	broad.mit.edu	37	4	15717416	15717416	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr4:15717416C>G	ENST00000265016.4	+	6	893	c.698C>G	c.(697-699)cCc>cGc	p.P233R	BST1_ENST00000382346.3_Missense_Mutation_p.P248R	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	233					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						ATTGGGGGACCCAATGTGTAA	0.328																																						uc003goh.4																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						c.(697-699)cCc>cGc		Homo sapiens bone marrow stromal cell antigen 1 (BST1), mRNA.							70.0	72.0	72.0					4																	15717416		2203	4300	6503	SO:0001583	missense	683				humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity	g.chr4:15717416C>G	D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"""CD molecules"""	1118	protein-coding gene	gene with protein product	"""NAD(+) nucleosidase"", ""ADP-ribosyl cyclase 2"""	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.698C>G	4.37:g.15717416C>G	ENSP00000265016:p.Pro233Arg						p.P233R	NM_004334	NP_004325	Q10588	BST1_HUMAN			5	893	+			233					B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	ENST00000265016.4	37	c.698C>G	CCDS3416.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.20|17.20	3.327792|3.327792	0.60743|0.60743	.|.	.|.	ENSG00000109743|ENSG00000109743	ENST00000505785;ENST00000514989|ENST00000265016;ENST00000382346;ENST00000514445	T;T|T;T;T	0.12569|0.13538	2.67;2.67|2.58;2.58;2.58	5.56|5.56	5.56|5.56	0.83823|0.83823	.|NAD(P)-binding domain (1);	0.175613|0.175613	0.50627|0.50627	D|D	0.000106|0.000106	T|T	0.40570|0.40570	0.1122|0.1122	M|M	0.81341|0.81341	2.54|2.54	0.31414|0.31414	N|N	0.67511|0.67511	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.47509|0.47509	-0.9112|-0.9112	8|10	0.32370|0.66056	T|D	0.25|0.02	-27.0232|-27.0232	15.3709|15.3709	0.74564|0.74564	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|248;233	.|A6NC48;Q10588	.|.;BST1_HUMAN	A|R	129;41|233;248;83	ENSP00000423357:P129A;ENSP00000424761:P41A|ENSP00000265016:P233R;ENSP00000371783:P248R;ENSP00000420925:P83R	ENSP00000423357:P129A|ENSP00000265016:P233R	P|P	+|+	1|2	0|0	BST1|BST1	15326514|15326514	0.986000|0.986000	0.35501|0.35501	0.065000|0.065000	0.19835|0.19835	0.941000|0.941000	0.58515|0.58515	4.155000|4.155000	0.58131|0.58131	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	CCA|CCC		0.328	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214968.2	NM_004334	
AREG	374	broad.mit.edu	37	4	75312298	75312298	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr4:75312298C>T	ENST00000395748.3	+	2	321	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C	AREG_ENST00000502307.1_Missense_Mutation_p.R37C|AREG_ENST00000264487.2_Missense_Mutation_p.R37C	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	37					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|G-protein coupled receptor signaling pathway (GO:0007186)|glial cell proliferation (GO:0014009)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in thelarche (GO:0060744)|negative regulation of osteoblast differentiation (GO:0045668)|neuron projection development (GO:0031175)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of phosphorylation (GO:0042327)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to peptide hormone (GO:0043434)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	growth factor activity (GO:0008083)			lung(4)	4			Lung(101;0.196)			CTCTGGGAAGCGTGAACCATT	0.483																																						uc021xpc.1																			0				lung(4)	4						c.(109-111)Cgt>Tgt		Homo sapiens amphiregulin (AREG), mRNA.							10.0	32.0	25.0					4																	75312298		1855	4116	5971	SO:0001583	missense	374				cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity	g.chr4:75312298C>T	M30704	CCDS3565.1	4q13.3	2014-06-19	2008-08-01		ENSG00000109321	ENSG00000109321		"""Endogenous ligands"""	651	protein-coding gene	gene with protein product		104640	"""schwannoma-derived growth factor"", ""amphiregulin B"""	SDGF, AREGB			Standard	NM_001657		Approved		uc021xpc.1	P15514	OTTHUMG00000130006	ENST00000395748.3:c.109C>T	4.37:g.75312298C>T	ENSP00000379097:p.Arg37Cys						p.R37C	NM_001657	NP_001648	P15514	AREG_HUMAN	Lung(101;0.196)		1	319	+			37					Q5U026	Missense_Mutation	SNP	ENST00000395748.3	37	c.109C>T	CCDS3565.1	.	.	.	.	.	.	.	.	.	.	C	4.331	0.060764	0.08339	.	.	ENSG00000109321	ENST00000395748;ENST00000264487;ENST00000502307	T;T;T	0.14893	2.47;2.47;2.63	5.23	0.995	0.19838	.	0.700776	0.14656	N	0.306320	T	0.07999	0.0200	N	0.14661	0.345	0.09310	N	1	P	0.37781	0.608	B	0.34873	0.191	T	0.22312	-1.0220	10	0.66056	D	0.02	-5.7189	3.7284	0.08484	0.4095:0.19:0.4004:0.0	.	37	P15514	AREG_HUMAN	C	37	ENSP00000379097:R37C;ENSP00000264487:R37C;ENSP00000421414:R37C	ENSP00000264487:R37C	R	+	1	0	AREG	75531162	0.692000	0.27719	0.013000	0.15412	0.008000	0.06430	0.789000	0.26886	0.314000	0.23086	-1.206000	0.01644	CGT		0.483	AREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252277.1		
ADH6	130	broad.mit.edu	37	4	100130080	100130080	+	Silent	SNP	A	A	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr4:100130080A>G	ENST00000237653.7	-	6	957	c.573T>C	c.(571-573)acT>acC	p.T191T	RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000394897.1_Silent_p.T191T|ADH6_ENST00000504257.1_5'UTR|ADH6_ENST00000407820.2_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394899.2_Silent_p.T191T|RP11-696N14.1_ENST00000500358.2_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	191					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	TAGAACCTGGAGTCACCTAAA	0.458																																						uc003huo.2																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(571-573)acT>acC		Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	Abacavir(DB01048)|NADH(DB00157)						159.0	163.0	162.0					4																	100130080		2203	4300	6503	SO:0001819	synonymous_variant	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100130080A>G	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.573T>C	4.37:g.100130080A>G						LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_5'UTR|ADH6_uc003hup.4_Silent_p.T191T|ADH6_uc010ile.3_Silent_p.T191T	p.T191T	NM_001102470	NP_001095940	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	5	667	-			191					B3KS45|Q58F53	Silent	SNP	ENST00000237653.7	37	c.573T>C	CCDS3647.1																																																																																				0.458	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672	
ITGA1	3672	broad.mit.edu	37	5	52183784	52183784	+	Missense_Mutation	SNP	G	G	A	rs201172852		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr5:52183784G>A	ENST00000282588.6	+	8	1369	c.911G>A	c.(910-912)cGg>cAg	p.R304Q		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	304	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AACATTCAACGGTTTTCCATA	0.388																																						uc003jou.3																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(910-912)cGg>cAg		Homo sapiens integrin, alpha 1 (ITGA1), mRNA.							116.0	105.0	109.0					5																	52183784		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52183784G>A	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.911G>A	5.37:g.52183784G>A	ENSP00000282588:p.Arg304Gln					ITGA1_uc003jov.3_Non-coding_Transcript	p.R304Q	NM_181501	NP_852478	P56199	ITA1_HUMAN			7	1325	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	304			VWFA.		B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.911G>A	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	36	5.635338	0.96682	.	.	ENSG00000213949	ENST00000282588	D	0.83506	-1.73	5.63	5.63	0.86233	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.92672	0.7671	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93243	0.6628	10	0.72032	D	0.01	.	19.6892	0.95991	0.0:0.0:1.0:0.0	.	304	P56199	ITA1_HUMAN	Q	304	ENSP00000282588:R304Q	ENSP00000282588:R304Q	R	+	2	0	ITGA1	52219541	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	9.383000	0.97214	2.664000	0.90586	0.563000	0.77884	CGG		0.388	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501	
DSP	1832	broad.mit.edu	37	6	7569486	7569486	+	Missense_Mutation	SNP	C	C	T	rs374283517		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr6:7569486C>T	ENST00000379802.3	+	12	1828	c.1487C>T	c.(1486-1488)aCg>aTg	p.T496M	DSP_ENST00000418664.2_Missense_Mutation_p.T496M	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	496	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.|SH3.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGGTACGTGACGGGCCCGGGA	0.552																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(1486-1488)aCg>aTg		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.		C	MET/THR,MET/THR	0,4406		0,0,2203	165.0	132.0	143.0		1487,1487	5.5	1.0	6		143	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DSP	NM_001008844.1,NM_004415.2	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	496/2273,496/2872	7569486	1,13005	2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7569486C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1487C>T	6.37:g.7569486C>T	ENSP00000369129:p.Thr496Met					DSP_uc003mxq.1_Missense_Mutation_p.T496M|DSP_uc021yle.1_Missense_Mutation_p.T496M	p.T496M	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	11	1766	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	496			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.1487C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958242	0.92726	0.0	1.16E-4	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.76578	-0.31;-1.03	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000011	T	0.81678	0.4873	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79022	-0.1973	10	0.35671	T	0.21	.	19.4895	0.95044	0.0:1.0:0.0:0.0	.	543;496	Q4LE79;P15924	.;DESP_HUMAN	M	496;496;301	ENSP00000369129:T496M;ENSP00000396591:T496M	ENSP00000369129:T496M	T	+	2	0	DSP	7514485	1.000000	0.71417	0.956000	0.39512	0.967000	0.64934	6.089000	0.71384	2.596000	0.87737	0.655000	0.94253	ACG		0.552	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
COL11A2	1302	broad.mit.edu	37	6	33153497	33153497	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr6:33153497C>T	ENST00000341947.2	-	6	1084	c.857G>A	c.(856-858)gGg>gAg	p.G286E	COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.G286E|COL11A2_ENST00000395197.1_Missense_Mutation_p.G286E|COL11A2_ENST00000374713.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G286E|COL11A2_ENST00000374714.1_Intron|COL11A2_ENST00000361917.1_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	286	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AGGGGTTGTCCCCGTAGTCAT	0.542																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(856-858)gGg>gAg		Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.							87.0	101.0	96.0					6																	33153497		1511	2709	4220	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33153497C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000341947.2:c.857G>A	6.37:g.33153497C>T	ENSP00000339915:p.Gly286Glu					COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	p.G286E	NM_080680	NP_542411	P13942	COBA2_HUMAN			5	1085	-			286			Nonhelical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000341947.2	37	c.857G>A		.	.	.	.	.	.	.	.	.	.	C	5.107	0.205379	0.09704	.	.	ENSG00000204248	ENST00000341947;ENST00000357486;ENST00000395197;ENST00000374712;ENST00000457788	D;D;D;D;D	0.89617	-2.28;-2.23;-2.37;-2.44;-2.54	3.8	1.96	0.26148	.	2.106070	0.02988	N	0.146467	T	0.80325	0.4602	N	0.22421	0.69	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.76677	-0.2871	10	0.02654	T	1	.	6.4471	0.21882	0.0:0.7625:0.0:0.2375	.	286	P13942	COBA2_HUMAN	E	286	ENSP00000339915:G286E;ENSP00000350079:G286E;ENSP00000378623:G286E;ENSP00000363844:G286E;ENSP00000405520:G286E	ENSP00000339915:G286E	G	-	2	0	COL11A2	33261475	0.331000	0.24713	0.849000	0.33467	0.556000	0.35491	0.539000	0.23175	0.370000	0.24538	0.297000	0.19635	GGG		0.542	COL11A2-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			
ASCC3	10973	broad.mit.edu	37	6	101054729	101054729	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr6:101054729A>G	ENST00000369162.2	-	32	5275	c.4931T>C	c.(4930-4932)aTt>aCt	p.I1644T		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1644	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GCTTGTAGCAATAAGAACCTA	0.294																																						uc003pqk.3																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(4930-4932)aTt>aCt		Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.							32.0	36.0	34.0					6																	101054729		2197	4294	6491	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101054729A>G	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4931T>C	6.37:g.101054729A>G	ENSP00000358159:p.Ile1644Thr						p.I1644T	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	31	5260	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1644			Helicase C-terminal 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.4931T>C	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.099019	0.76870	.	.	ENSG00000112249	ENST00000369162	T	0.42513	0.97	5.78	5.78	0.91487	Helicase, C-terminal (3);	0.123406	0.56097	D	0.000040	T	0.53594	0.1806	M	0.62088	1.915	0.80722	D	1	D	0.67145	0.996	D	0.68039	0.955	T	0.59123	-0.7513	10	0.87932	D	0	.	16.1143	0.81295	1.0:0.0:0.0:0.0	.	1644	Q8N3C0	HELC1_HUMAN	T	1644	ENSP00000358159:I1644T	ENSP00000358159:I1644T	I	-	2	0	ASCC3	101161450	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.174000	0.94824	2.198000	0.70561	0.477000	0.44152	ATT		0.294	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	
CITED2	10370	broad.mit.edu	37	6	139694947	139694947	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr6:139694947C>T	ENST00000367651.2	-	2	350	c.135G>A	c.(133-135)caG>caA	p.Q45Q	CITED2_ENST00000537332.1_Silent_p.Q45Q|CITED2_ENST00000536159.1_Silent_p.Q45Q	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	45	His-rich.				adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		TGAAGGCGTGCTGGGGCTGCT	0.662																																					NSCLC(98;1219 1550 33720 43229 49330)	uc021zfz.1																			0				large_intestine(1)|lung(4)	5						c.(133-135)caG>caA		Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 (CITED2), transcript variant 3, mRNA.							45.0	45.0	45.0					6																	139694947		2203	4300	6503	SO:0001819	synonymous_variant	10370				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr6:139694947C>T	U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.135G>A	6.37:g.139694947C>T						CITED2_uc021zga.1_Silent_p.Q45Q|CITED2_uc003qip.1_Silent_p.Q45Q|CITED2_uc021zgb.1_Silent_p.Q45Q	p.Q45Q	NM_001168389	NP_006070	Q99967	CITE2_HUMAN		GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)	1	225	-	Breast(32;0.226)		45			His-rich.		O95426|Q5VTF4	Silent	SNP	ENST00000367651.2	37	c.135G>A	CCDS5195.1																																																																																				0.662	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1		
HOXA6	3203	broad.mit.edu	37	7	27185382	27185382	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:27185382G>C	ENST00000222728.3	-	2	621	c.597C>G	c.(595-597)atC>atG	p.I199M	HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA5_ENST00000520854.1_5'Flank|HOXA5_ENST00000222726.3_5'Flank|HOXA-AS3_ENST00000518947.2_RNA|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000521231.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	199					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						ACCAGATCTTGATCTGGCGCT	0.597																																						uc003syo.2																			0				central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						c.(595-597)atC>atG		Homo sapiens homeobox A6 (HOXA6), mRNA.							170.0	163.0	165.0					7																	27185382		2203	4300	6503	SO:0001583	missense	3203					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27185382G>C		CCDS5407.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106006	ENSG00000106006		"""Homeoboxes / ANTP class : HOXL subclass"""	5107	protein-coding gene	gene with protein product		142951	"""homeo box A6"""	HOX1B, HOX1		1973146, 1358459	Standard	NM_024014		Approved		uc003syo.2	P31267	OTTHUMG00000023216	ENST00000222728.3:c.597C>G	7.37:g.27185382G>C	ENSP00000222728:p.Ile199Met					HOXA-AS3_uc003syr.2_Intron|HOXA5_uc003syn.2_5'Flank|HOXA-AS3_uc003syp.2_5'Flank	p.I199M	NM_024014	NP_076919	P31267	HXA6_HUMAN			1	622	-			199					A4D192|Q2M3G3|Q9UPM0	Missense_Mutation	SNP	ENST00000222728.3	37	c.597C>G	CCDS5407.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.796208	0.70567	.	.	ENSG00000106006	ENST00000222728	D	0.97138	-4.26	5.36	3.55	0.40652	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	H	0.96604	3.85	0.53005	D	0.999964	D	0.76494	0.999	D	0.85130	0.997	D	0.98368	1.0552	10	0.87932	D	0	.	7.447	0.27217	0.2877:0.0:0.7123:0.0	.	199	P31267	HXA6_HUMAN	M	199	ENSP00000222728:I199M	ENSP00000222728:I199M	I	-	3	3	HOXA6	27151907	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.307000	0.33516	1.267000	0.44247	0.561000	0.74099	ATC		0.597	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358697.1		
NME8	51314	broad.mit.edu	37	7	37934142	37934142	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:37934142C>T	ENST00000199447.4	+	16	1846	c.1474C>T	c.(1474-1476)Caa>Taa	p.Q492*	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Nonsense_Mutation_p.Q492*	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	492	NDK 3.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										AACTCCTGAGCAAATAGAGAA	0.303																																						uc003tfn.3																			0											c.(1474-1476)Caa>Taa		Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.							64.0	66.0	65.0					7																	37934142		2203	4299	6502	SO:0001587	stop_gained	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37934142C>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1474C>T	7.37:g.37934142C>T	ENSP00000199447:p.Gln492*						p.Q492*	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			15	1846	+			492			NDK 3.		Q9NZH1	Nonsense_Mutation	SNP	ENST00000199447.4	37	c.1474C>T	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786140	0.49997	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	.	.	.	4.05	-8.1	0.01086	.	5.282530	0.00866	N	0.001973	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	8.5291	5.4605	0.16614	0.0994:0.1258:0.525:0.2499	.	.	.	.	X	492	.	ENSP00000199447:Q492X	Q	+	1	0	TXNDC3	37900667	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.731000	0.00805	-2.300000	0.00658	0.467000	0.42956	CAA		0.303	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	
COBL	23242	broad.mit.edu	37	7	51096735	51096735	+	Silent	SNP	T	T	C			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:51096735T>C	ENST00000265136.7	-	10	2223	c.2058A>G	c.(2056-2058)acA>acG	p.T686T	COBL_ENST00000395542.2_Silent_p.T768T	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	686					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGTGCCATGATGTTGGTGCCA	0.498																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tps.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2227-2229)acA>acG		Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.							155.0	133.0	141.0					7																	51096735		2203	4300	6503	SO:0001819	synonymous_variant	23242							g.chr7:51096735T>C	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2058A>G	7.37:g.51096735T>C						COBL_uc003tpr.4_Silent_p.T686T|COBL_uc011kcl.2_Silent_p.T686T|COBL_uc003tpp.4_Silent_p.T472T|COBL_uc003tpq.4_Silent_p.T627T|COBL_uc003tpo.4_Silent_p.T228T	p.T743T	NM_015198	NP_056013	O75128	COBL_HUMAN			10	2414	-	Glioma(55;0.08)		686					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.2229A>G	CCDS34637.1																																																																																				0.498	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198	
POM121L12	285877	broad.mit.edu	37	7	53104084	53104084	+	Silent	SNP	C	C	T	rs200244415		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:53104084C>T	ENST00000408890.4	+	1	736	c.720C>T	c.(718-720)ctC>ctT	p.L240L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	240										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGCCGAGCCTCGGCCCCTGGA	0.647																																						uc003tpz.3																			0		p.S239T(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(718-720)ctC>ctT		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.		C		0,3950		0,0,1975	44.0	52.0	50.0		720	0.1	0.0	7		50	1,8281		0,1,4140	no	coding-synonymous	POM121L12	NM_182595.3		0,1,6115	TT,TC,CC		0.0121,0.0,0.0082		240/297	53104084	1,12231	1975	4141	6116	SO:0001819	synonymous_variant	285877							g.chr7:53104084C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.720C>T	7.37:g.53104084C>T							p.L240L	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	736	+			240					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.720C>T	CCDS43584.1																																																																																				0.647	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
EGFR	1956	broad.mit.edu	37	7	55233036	55233036	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:55233036C>T	ENST00000275493.2	+	15	1963	c.1786C>T	c.(1786-1788)Ccg>Tcg	p.P596S	EGFR_ENST00000442591.1_Missense_Mutation_p.P596S|EGFR_ENST00000344576.2_Missense_Mutation_p.P596S|EGFR_ENST00000455089.1_Missense_Mutation_p.P551S|EGFR_ENST00000454757.2_Missense_Mutation_p.P543S|EGFR_ENST00000342916.3_Missense_Mutation_p.P596S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	596					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAAGACCTGCCCGGCAGGAGT	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0		p.P596L(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1786-1788)Ccg>Tcg		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						92.0	80.0	84.0					7																	55233036		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233036C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1786C>T	7.37:g.55233036C>T	ENSP00000275493:p.Pro596Ser	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.P596S|EGFR_uc003tqj.3_Missense_Mutation_p.P596S|EGFR_uc022adm.1_Missense_Mutation_p.P596S|EGFR_uc010kzg.2_Missense_Mutation_p.P551S|EGFR_uc022adn.1_Missense_Mutation_p.P551S|EGFR_uc011kco.2_Missense_Mutation_p.P543S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.P596S	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2032	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		596					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1786C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	34	5.407764	0.96051	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.80969	0.4726	M	0.70787	2.145	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	P;P;D;P	0.64410	0.702;0.824;0.925;0.844	T	0.81780	-0.0776	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:1.0:0.0:0.0	.	551;596;596;596	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	S	551;596;466;596;596;596;543;390	ENSP00000415559:P551S;ENSP00000342376:P596S;ENSP00000345973:P596S;ENSP00000275493:P596S;ENSP00000410031:P596S;ENSP00000395243:P543S	ENSP00000275493:P596S	P	+	1	0	EGFR	55200530	1.000000	0.71417	0.999000	0.59377	0.812000	0.45895	7.738000	0.84966	2.785000	0.95823	0.655000	0.94253	CCG		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
CALN1	83698	broad.mit.edu	37	7	71571150	71571150	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:71571150C>T	ENST00000329008.5	-	3	546	c.248G>A	c.(247-249)cGc>cAc	p.R83H	CALN1_ENST00000412588.1_Missense_Mutation_p.R125H|CALN1_ENST00000405452.2_Missense_Mutation_p.R83H|CALN1_ENST00000431984.1_Missense_Mutation_p.R83H|CALN1_ENST00000395275.2_Missense_Mutation_p.R125H|CALN1_ENST00000395276.2_Missense_Mutation_p.R83H	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	83	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CATGTCCAAGCGCTGCATGAT	0.587																																						uc003twb.4																			0		p.W124C(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(373-375)cGc>cAc		Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.							70.0	53.0	59.0					7																	71571150		2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71571150C>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.248G>A	7.37:g.71571150C>T	ENSP00000332498:p.Arg83His					CALN1_uc003twa.4_Missense_Mutation_p.R83H|CALN1_uc003twc.4_Missense_Mutation_p.R83H	p.R125H	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN			3	765	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	83					J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.374G>A	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837055	0.50951	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128	T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.69	4.81	0.61882	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.047648	0.85682	D	0.000000	T	0.58409	0.2120	N	0.20685	0.6	0.40895	D	0.9841	B;B	0.25272	0.122;0.122	B;B	0.27608	0.081;0.081	T	0.60530	-0.7245	10	0.87932	D	0	-12.0301	13.7558	0.62935	0.0:0.9266:0.0:0.0734	.	83;83	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	H	83;125;83;83;125;83;83	ENSP00000332498:R83H;ENSP00000378690:R125H;ENSP00000378691:R83H;ENSP00000410704:R83H;ENSP00000391882:R125H;ENSP00000384354:R83H;ENSP00000411806:R83H	ENSP00000332498:R83H	R	-	2	0	CALN1	71209086	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.456000	0.80751	1.439000	0.47511	0.644000	0.83932	CGC		0.587	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468	
SLC26A5	375611	broad.mit.edu	37	7	103050930	103050930	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:103050930A>T	ENST00000306312.3	-	7	898	c.637T>A	c.(637-639)Ttt>Att	p.F213I	SLC26A5_ENST00000393735.2_Missense_Mutation_p.F213I|SLC26A5_ENST00000393727.1_Missense_Mutation_p.F213I|SLC26A5_ENST00000356767.4_Missense_Mutation_p.F213I|SLC26A5_ENST00000393723.1_Missense_Mutation_p.F213I|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393730.1_Missense_Mutation_p.F213I|SLC26A5_ENST00000393729.1_Missense_Mutation_p.F176I|SLC26A5_ENST00000432958.2_Missense_Mutation_p.F213I|SLC26A5_ENST00000339444.6_Missense_Mutation_p.F213I	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	213					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GCGGTGGTAAACCCACGGACC	0.408																																						uc003vbz.3																			0				endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						c.(637-639)Ttt>Att		Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.							72.0	71.0	71.0					7																	103050930		2203	4300	6503	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103050930A>T	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.637T>A	7.37:g.103050930A>T	ENSP00000304783:p.Phe213Ile					SLC26A5_uc003vbt.2_Missense_Mutation_p.F213I|SLC26A5_uc003vbu.2_Missense_Mutation_p.F213I|SLC26A5_uc003vbv.2_Missense_Mutation_p.F213I|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.F213I	p.F213I	NM_198999	NP_945350	P58743	S26A5_HUMAN			6	899	-			213					Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.637T>A	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.392395	0.83011	.	.	ENSG00000170615	ENST00000339444;ENST00000356767;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17	5.72	5.72	0.89469	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97617	0.9219	M	0.88241	2.94	0.80722	D	1	P;P;P;P;P	0.43024	0.578;0.798;0.581;0.669;0.759	P;P;B;B;P	0.49999	0.549;0.628;0.336;0.302;0.494	D	0.98358	1.0547	10	0.87932	D	0	.	16.0046	0.80354	1.0:0.0:0.0:0.0	.	213;213;213;213;213	P58743;Q496J2;P58743-4;P58743-3;P58743-2	S26A5_HUMAN;.;.;.;.	I	213;213;213;213;213;213;176;213;213	ENSP00000342396:F213I;ENSP00000349210:F213I;ENSP00000377336:F213I;ENSP00000304783:F213I;ENSP00000377331:F213I;ENSP00000389733:F213I;ENSP00000377330:F176I;ENSP00000377328:F213I;ENSP00000377324:F213I	ENSP00000304783:F213I	F	-	1	0	SLC26A5	102838166	1.000000	0.71417	0.985000	0.45067	0.963000	0.63663	8.825000	0.92029	2.186000	0.69663	0.482000	0.46254	TTT		0.408	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999	
COPG2	26958	broad.mit.edu	37	7	130297070	130297070	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:130297070T>C	ENST00000445977.2	-	8	621	c.532A>G	c.(532-534)Atc>Gtc	p.I178V				Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	178					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)	structural molecule activity (GO:0005198)			large_intestine(1)	1	Melanoma(18;0.0435)					GCTTCATTGATCCAGCGCTTA	0.353																																						uc003vqh.1																			0				large_intestine(1)	1						c.(532-534)Atc>Gtc		Homo sapiens coatomer protein complex, subunit gamma 2 (COPG2), mRNA.							151.0	131.0	138.0					7																	130297070		1897	4125	6022	SO:0001583	missense	26958				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity	g.chr7:130297070T>C	AF157833	CCDS75662.1	7q32	2010-06-22			ENSG00000158623	ENSG00000158623			2237	protein-coding gene	gene with protein product	"""coat protein, nonclathrin, gamma-2-cop"""	604355				10556286, 10995575	Standard	NM_001290033		Approved	2-COP	uc003vqh.1	Q9UBF2	OTTHUMG00000155364	ENST00000445977.2:c.532A>G	7.37:g.130297070T>C	ENSP00000393912:p.Ile178Val						p.I178V	NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN			7	622	-	Melanoma(18;0.0435)		178					A6NH74|Q2NLA0|Q54AC3|Q8WVW8	Missense_Mutation	SNP	ENST00000445977.2	37	c.532A>G		.	.	.	.	.	.	.	.	.	.	T	8.949	0.967631	0.18659	.	.	ENSG00000158623	ENST00000445977;ENST00000330992	T;T	0.13089	2.62;2.62	5.58	4.51	0.55191	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.133152	0.49305	N	0.000158	T	0.02342	0.0072	N	0.00298	-1.69	0.45087	D	0.998102	B	0.02656	0.0	B	0.04013	0.001	T	0.30387	-0.9980	10	0.02654	T	1	.	5.9132	0.19039	0.0:0.1494:0.0:0.8506	.	178	Q9UBF2	COPG2_HUMAN	V	178	ENSP00000393912:I178V;ENSP00000331218:I178V	ENSP00000331218:I178V	I	-	1	0	COPG2	129947607	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.898000	0.48672	1.099000	0.41499	0.459000	0.35465	ATC		0.353	COPG2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_012133	
SH2D4A	63898	broad.mit.edu	37	8	19177081	19177081	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:19177081A>G	ENST00000265807.3	+	2	434	c.23A>G	c.(22-24)gAg>gGg	p.E8G	SH2D4A_ENST00000518040.1_Intron|SH2D4A_ENST00000519207.1_Missense_Mutation_p.E8G	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	8					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		ATACTGTCGGAGATGTACATA	0.463																																						uc003wzc.3																			0		p.S7L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16						c.(22-24)gAg>gGg		Homo sapiens SH2 domain containing 4A (SH2D4A), transcript variant 2, mRNA.							82.0	73.0	76.0					8																	19177081		2203	4300	6503	SO:0001583	missense	63898					cytoplasm|nucleus	protein binding	g.chr8:19177081A>G	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.23A>G	8.37:g.19177081A>G	ENSP00000265807:p.Glu8Gly					SH2D4A_uc003wzb.3_Missense_Mutation_p.E8G|SH2D4A_uc011kym.2_Intron	p.E8G	NM_001174159	NP_071354	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	1	331	+			8					B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	c.23A>G	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.657609	0.47467	.	.	ENSG00000104611	ENST00000265807;ENST00000519207	T;T	0.15834	2.39;2.39	5.88	5.88	0.94601	.	0.438172	0.25071	N	0.033372	T	0.21062	0.0507	M	0.73598	2.24	0.52501	D	0.999954	P	0.39665	0.682	B	0.30401	0.115	T	0.04041	-1.0982	10	0.87932	D	0	.	14.2529	0.66031	1.0:0.0:0.0:0.0	.	8	Q9H788	SH24A_HUMAN	G	8	ENSP00000265807:E8G;ENSP00000428684:E8G	ENSP00000265807:E8G	E	+	2	0	SH2D4A	19221361	1.000000	0.71417	0.348000	0.25681	0.344000	0.29017	9.266000	0.95659	2.246000	0.74042	0.533000	0.62120	GAG		0.463	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071	
PREX2	80243	broad.mit.edu	37	8	69030839	69030839	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:69030839C>A	ENST00000288368.4	+	27	3658	c.3381C>A	c.(3379-3381)agC>agA	p.S1127R		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1127					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCTGCAGCAGCCAGTGCAGCT	0.463																																						uc003xxv.1																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(3379-3381)agC>agA		Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.							145.0	130.0	135.0					8																	69030839		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69030839C>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3381C>A	8.37:g.69030839C>A	ENSP00000288368:p.Ser1127Arg						p.S1127R	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			26	3408	+			1127					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.3381C>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932450	0.73442	.	.	ENSG00000046889	ENST00000288368;ENST00000396539	T	0.36699	1.24	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.32224	0.0822	L	0.44542	1.39	0.58432	D	0.999999	P	0.47910	0.902	P	0.45071	0.468	T	0.10823	-1.0613	10	0.59425	D	0.04	.	6.7829	0.23657	0.0:0.7808:0.0:0.2192	.	1127	Q70Z35	PREX2_HUMAN	R	1127;1132	ENSP00000288368:S1127R	ENSP00000288368:S1127R	S	+	3	2	PREX2	69193393	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.624000	0.24462	2.435000	0.82474	0.591000	0.81541	AGC		0.463	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	
CSMD3	114788	broad.mit.edu	37	8	113529374	113529374	+	Missense_Mutation	SNP	T	T	A	rs377464995		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:113529374T>A	ENST00000297405.5	-	28	4889	c.4645A>T	c.(4645-4647)Act>Tct	p.T1549S	CSMD3_ENST00000343508.3_Missense_Mutation_p.T1509S|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1549S|CSMD3_ENST00000455883.2_Missense_Mutation_p.T1445S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1549	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAACAACAGTGTCCCCAGGT	0.498										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			0		p.D1548fs*19(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4645-4647)Act>Tct		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							111.0	99.0	103.0					8																	113529374		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113529374T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4645A>T	8.37:g.113529374T>A	ENSP00000297405:p.Thr1549Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.3_Missense_Mutation_p.T821S|CSMD3_uc003ynt.3_Missense_Mutation_p.T1509S|CSMD3_uc011lhx.2_Missense_Mutation_p.T1445S	p.T1549S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			27	4804	-			1549			Sushi 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4645A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.552277	0.27739	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	4.88	3.73	0.42828	Complement control module (2);Sushi/SCR/CCP (3);	0.073595	0.56097	D	0.000028	T	0.47097	0.1427	N	0.16166	0.38	0.24364	N	0.994861	B;B;P	0.36660	0.028;0.035;0.564	B;B;P	0.45753	0.013;0.023;0.492	T	0.41484	-0.9506	10	0.07175	T	0.84	.	10.4459	0.44495	0.0:0.077:0.0:0.923	.	1445;1549;1509	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	1509;1549;889;1445;1549	ENSP00000345799:T1509S;ENSP00000297405:T1549S;ENSP00000341558:T889S;ENSP00000412263:T1445S;ENSP00000343124:T1549S	ENSP00000297405:T1549S	T	-	1	0	CSMD3	113598550	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.978000	0.63799	0.892000	0.36259	0.477000	0.44152	ACT		0.498	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
SAMD12	401474	broad.mit.edu	37	8	119391929	119391929	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:119391929C>T	ENST00000314727.4	-	4	469	c.333G>A	c.(331-333)ctG>ctA	p.L111L	SAMD12_ENST00000409003.4_Silent_p.L111L|SAMD12_ENST00000527515.1_5'Flank|AC023590.1_ENST00000430457.1_Intron	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	111	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TAAGTCTCAGCAGGGCTCGCC	0.488																																						uc003yom.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9						c.(331-333)ctG>ctA		Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.							86.0	81.0	83.0					8																	119391929		2203	4300	6503	SO:0001819	synonymous_variant	401474							g.chr8:119391929C>T	AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"""Sterile alpha motif (SAM) domain containing"""	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.333G>A	8.37:g.119391929C>T						SAMD12_uc010mda.1_Silent_p.L111L|SAMD12_uc010mdb.1_Non-coding_Transcript	p.L111L	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	STAD - Stomach adenocarcinoma(47;0.00391)		3	462	-	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		111			SAM.		Q0P502	Silent	SNP	ENST00000314727.4	37	c.333G>A	CCDS6325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.73|14.73	2.621802|2.621802	0.46840|0.46840	.|.	.|.	ENSG00000177570|ENSG00000177570	ENST00000453675|ENST00000526765	.|.	.|.	.|.	6.17|6.17	1.01|1.01	0.19927|0.19927	.|.	.|.	.|.	.|.	.|.	T|T	0.51210|0.51210	0.1661|0.1661	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39702|0.39702	-0.9601|-0.9601	4|4	.|.	.|.	.|.	-12.1163|-12.1163	5.0969|5.0969	0.14739|0.14739	0.2117:0.5681:0.1026:0.1176|0.2117:0.5681:0.1026:0.1176	.|.	.|.	.|.	.|.	T|Y	98|126	.|.	.|.	A|C	-|-	1|2	0|0	SAMD12|SAMD12	119461110|119461110	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.918000|1.918000	0.40006|0.40006	0.458000|0.458000	0.26988|0.26988	-0.140000|-0.140000	0.14226|0.14226	GCT|TGC		0.488	SAMD12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132989.3	NM_207506	
COL22A1	169044	broad.mit.edu	37	8	139791753	139791753	+	Splice_Site	SNP	C	C	T	rs149163176	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:139791753C>T	ENST00000303045.6	-	14	2149	c.1703G>A	c.(1702-1704)cGg>cAg	p.R568Q	COL22A1_ENST00000435777.1_Splice_Site_p.R568Q	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	568	Collagen-like 3.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AACACTCACCCGCATGCCGAC	0.592										HNSCC(7;0.00092)			C|||	16	0.00319489	0.0106	0.0029	5008	,	,		15484	0.0		0.0	False		,,,				2504	0.0					uc003yvd.3																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.e14+1		Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.		C	GLN/ARG	37,4369	41.6+/-74.8	0,37,2166	65.0	70.0	68.0		1703	3.3	1.0	8	dbSNP_134	68	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice	COL22A1	NM_152888.1	43	0,39,6464	TT,TC,CC		0.0233,0.8398,0.2999	probably-damaging	568/1627	139791753	39,12967	2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139791753C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1704+1G>A	8.37:g.139791753C>T		HNSCC(7;0.00092)					p.R568_splice	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		14	2151	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		568			Collagen-like 3.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1704_splice	CCDS6376.1	6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	C	13.12	2.141505	0.37825	0.008398	2.33E-4	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000522546	D;D;D	0.94417	-3.24;-3.24;-3.42	4.18	3.29	0.37713	.	0.968792	0.08382	U	0.954347	D	0.89136	0.6629	N	0.15975	0.35	0.31566	N	0.656939	D	0.76494	0.999	P	0.59221	0.854	T	0.83198	-0.0080	10	0.07813	T	0.8	.	9.3955	0.38399	0.2124:0.7876:0.0:0.0	.	568	Q8NFW1	COMA1_HUMAN	Q	568;568;18	ENSP00000303153:R568Q;ENSP00000387655:R568Q;ENSP00000428244:R18Q	ENSP00000303153:R568Q	R	-	2	0	COL22A1	139860935	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.835000	0.39181	1.323000	0.45263	0.555000	0.69702	CGG		0.592	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Missense_Mutation
DMRT1	1761	broad.mit.edu	37	9	842164	842164	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr9:842164delC	ENST00000382276.3	+	1	475	c.326delC	c.(325-327)gccfs	p.A109fs	DMRT1_ENST00000569227.1_5'Flank	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	109					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		AACCTGATCGCCGAGAGGCAG	0.592																																						uc003zgv.3																			0				large_intestine(2)|lung(10)|ovary(1)	13						c.(325-327)gccfs		Homo sapiens doublesex and mab-3 related transcription factor 1 (DMRT1), mRNA.							5.0	5.0	5.0					9																	842164		2093	4114	6207	SO:0001589	frameshift_variant	1761				cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:842164delC	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.326delC	9.37:g.842164delC	ENSP00000371711:p.Ala109fs					DMRT1_uc003zgu.1_Frame_Shift_Del_p.A109fs	p.A109fs	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN		Lung(218;0.037)	0	475	+		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	109					B2R913|Q6T1H8|Q6T1H9|Q8IW77	Frame_Shift_Del	DEL	ENST00000382276.3	37	c.326delC	CCDS6442.1																																																																																				0.592	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951	
CNTNAP3	79937	broad.mit.edu	37	9	39078395	39078396	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr9:39078395_39078396delAG	ENST00000297668.6	-	23	3804_3805	c.3731_3732delCT	c.(3730-3732)tctfs	p.S1244fs	CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.S1163fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1244					cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CGATGACAGCAGAGTCTCTTCT	0.436																																						uc004abi.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(3730-3732)tctfs		Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.																																				SO:0001589	frameshift_variant	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39078395_39078396delAG	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.3731_3732delCT	9.37:g.39078397_39078398delAG	ENSP00000297668:p.Ser1244fs					CNTNAP3_uc004abj.3_Frame_Shift_Del_p.S1163fs|CNTNAP3_uc011lqr.2_Non-coding_Transcript	p.S1244fs	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	22	3970_3971	-			1244					B1AMA0|Q9C0E9	Frame_Shift_Del	DEL	ENST00000297668.6	37	c.3731_3732delCT	CCDS6616.1																																																																																				0.436	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655	
OR1N1	138883	broad.mit.edu	37	9	125289116	125289116	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr9:125289116C>T	ENST00000304880.2	-	1	456	c.457G>A	c.(457-459)Gtt>Att	p.V153I		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GTCAGGGCAACGATATTGGTG	0.537																																						uc004bmn.1																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(457-459)Gtt>Att		Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.							122.0	97.0	106.0					9																	125289116		2203	4300	6503	SO:0001583	missense	138883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125289116C>T	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.457G>A	9.37:g.125289116C>T	ENSP00000306974:p.Val153Ile						p.V153I	NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN			0	457	-			153					A3KFM1|O43870|Q6IF16|Q96R93	Missense_Mutation	SNP	ENST00000304880.2	37	c.457G>A	CCDS6844.1	.	.	.	.	.	.	.	.	.	.	c	5.104	0.204738	0.09704	.	.	ENSG00000171505	ENST00000304880	T	0.35789	1.29	3.54	-5.33	0.02713	GPCR, rhodopsin-like superfamily (1);	0.917486	0.08812	N	0.890083	T	0.14960	0.0361	N	0.20445	0.575	0.09310	N	1	P	0.35307	0.494	B	0.26416	0.069	T	0.20472	-1.0274	10	0.21014	T	0.42	.	5.9819	0.19411	0.131:0.2691:0.5144:0.0854	.	153	Q8NGS0	OR1N1_HUMAN	I	153	ENSP00000306974:V153I	ENSP00000306974:V153I	V	-	1	0	OR1N1	124328937	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.345000	0.00129	-0.825000	0.04290	-1.530000	0.00923	GTT		0.537	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1		
DBH	1621	broad.mit.edu	37	9	136508597	136508597	+	Silent	SNP	C	C	T	rs141816448	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr9:136508597C>T	ENST00000393056.2	+	4	819	c.807C>T	c.(805-807)tgC>tgT	p.C269C		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	269					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.C269C(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	TCTTCCAGTGCGCCCCCGAGA	0.662													C|||	3	0.000599042	0.0	0.0	5008	,	,		14338	0.0		0.001	False		,,,				2504	0.002					uc004cel.3																			1	Substitution - coding silent(1)	p.C269C(2)	large_intestine(1)	central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(805-807)tgC>tgT		Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	Dopamine(DB00988)|Vitamin C(DB00126)	C		1,4405	2.1+/-5.4	0,1,2202	78.0	76.0	77.0		807	-2.6	0.1	9	dbSNP_134	77	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	DBH	NM_000787.3		0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308		269/618	136508597	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136508597C>T	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.807C>T	9.37:g.136508597C>T							p.C269C	NM_000787	NP_000778	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	3	816	+			269					Q5T381|Q96AG2	Silent	SNP	ENST00000393056.2	37	c.807C>T	CCDS6977.2																																																																																				0.662	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787	
WWC3	55841	broad.mit.edu	37	X	10096666	10096666	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chrX:10096666G>T	ENST00000380861.4	+	17	2741	c.2350G>T	c.(2350-2352)Gag>Tag	p.E784*	WWC3_ENST00000454666.1_Nonsense_Mutation_p.E784*	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	784					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						ACTGGCCGAGGAGCGGGCCAA	0.662																																						uc004csx.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(2350-2352)Gag>Tag		Homo sapiens WWC family member 3 (WWC3), mRNA.							64.0	50.0	55.0					X																	10096666		2201	4300	6501	SO:0001587	stop_gained	55841							g.chrX:10096666G>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2350G>T	X.37:g.10096666G>T	ENSP00000370242:p.Glu784*					WWC3_uc010nds.3_Nonsense_Mutation_p.E448*|WWC3_uc010ndt.3_Non-coding_Transcript	p.E784*	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN			16	2548	+			784					A8KA96|Q659C1|Q9BTQ1	Nonsense_Mutation	SNP	ENST00000380861.4	37	c.2350G>T	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	g	41	8.584013	0.98872	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	.	.	.	4.95	4.95	0.65309	.	0.462763	0.24398	N	0.038879	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-32.6075	17.6585	0.88184	0.0:0.0:1.0:0.0	.	.	.	.	X	784;784;279	.	.	E	+	1	0	WWC3	10056666	1.000000	0.71417	0.986000	0.45419	0.254000	0.26022	5.555000	0.67301	2.187000	0.69744	0.525000	0.51046	GAG		0.662	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	
MSL3	10943	broad.mit.edu	37	X	11780954	11780957	+	Splice_Site	DEL	AGTT	AGTT	-			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chrX:11780954_11780957delAGTT	ENST00000312196.4	+	7	693_695	c.588_590delAGTT	c.(586-591)cgagtt>cgt	p.V198fs	MSL3_ENST00000380693.3_Splice_Site_p.V32fs|MSL3_ENST00000361672.2_Splice_Site_p.V49fs|MSL3_ENST00000337339.2_Splice_Site_p.V198fs|MSL3_ENST00000398527.2_Splice_Site_p.V186fs	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	198	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TTTTGTTAACAGTTAGTGAAACTT	0.368																																						uc004cuw.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						c.e7-1		Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11780954_11780957delAGTT	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.589-1AGTT>-	X.37:g.11780954_11780957delAGTT						MSL3_uc004cuv.1_Splice_Site_p.L197_splice|MSL3_uc011mig.2_Splice_Site_p.L48_splice|MSL3_uc011mih.2_Splice_Site_p.L185_splice|MSL3_uc004cuy.3_Splice_Site_p.L31_splice|MSL3_uc011mii.2_Splice_Site_p.L31_splice	p.L197_splice	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN			7	694	+			197					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Splice_Site	DEL	ENST00000312196.4	37	c.589_splice	CCDS14147.1																																																																																				0.368	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800	Frame_Shift_Del
