#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
GJB3	2707	broad.mit.edu	37	1	35250842	35250842	+	Missense_Mutation	SNP	G	G	A	rs200055020		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:35250842G>A	ENST00000373366.2	+	2	1094	c.479G>A	c.(478-480)cGc>cAc	p.R160H	GJB3_ENST00000373362.3_Missense_Mutation_p.R160H|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	160					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)	p.R160H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AATATGCCGCGCCTGGTGCAG	0.552													g|||	1	0.000199681	0.0	0.0014	5008	,	,		20625	0.0		0.0	False		,,,				2504	0.0					uc001bxz.4																			1	Substitution - Missense(1)	p.R160H(2)	endometrium(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15						c.(478-480)cGc>cAc		Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA.			HIS/ARG,HIS/ARG	2,4404	2.1+/-5.4	0,2,2201	152.0	162.0	159.0		479,479	5.1	1.0	1		159	4,8596	4.3+/-15.6	0,4,4296	yes	missense,missense	GJB3	NM_001005752.1,NM_024009.2	29,29	0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461	possibly-damaging,possibly-damaging	160/271,160/271	35250842	6,13000	2203	4300	6503	SO:0001583	missense	2707				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35250842G>A	BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"""Ion channels / Gap junction proteins (connexins)"""	4285	protein-coding gene	gene with protein product	"""connexin 31"""	603324	"""gap junction protein, beta 3, 31kD (connexin 31)"", ""gap junction protein, beta 3, 31kDa (connexin 31)"", ""erythrokeratodermia variabilis"""	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.479G>A	1.37:g.35250842G>A	ENSP00000362464:p.Arg160His					GJB3_uc001bxx.3_Missense_Mutation_p.R160H|GJB3_uc001bxy.3_Missense_Mutation_p.R160H	p.R160H	NM_024009	NP_076872	O75712	CXB3_HUMAN			0	479	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	160					B2R790|Q2TAZ8	Missense_Mutation	SNP	ENST00000373366.2	37	c.479G>A	CCDS384.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	10.40	1.340688	0.24339	4.54E-4	4.65E-4	ENSG00000188910	ENST00000373366;ENST00000373362;ENST00000543647	D;D	0.95656	-3.77;-3.77	5.07	5.07	0.68467	Gap junction protein, cysteine-rich domain (1);	0.109633	0.64402	N	0.000017	D	0.92176	0.7519	M	0.61703	1.905	0.47476	D	0.999435	P	0.38300	0.626	B	0.23574	0.047	D	0.91616	0.5307	10	0.36615	T	0.2	.	13.7745	0.63046	0.0:0.154:0.846:0.0	.	160	O75712	CXB3_HUMAN	H	160;160;144	ENSP00000362464:R160H;ENSP00000362460:R160H	ENSP00000362460:R160H	R	+	2	0	GJB3	35023429	1.000000	0.71417	0.997000	0.53966	0.019000	0.09904	7.821000	0.86641	2.368000	0.80403	0.556000	0.70494	CGC		0.552	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1	NM_024009	
C8B	732	broad.mit.edu	37	1	57395177	57395177	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:57395177C>T	ENST00000371237.4	-	12	1742	c.1676G>A	c.(1675-1677)gGa>gAa	p.G559E	C8B_ENST00000535057.1_Missense_Mutation_p.G497E|C8B_ENST00000543257.1_Missense_Mutation_p.G507E	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	559	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CTTACGTCTTCCAGAGCATGA	0.448																																						uc001cyp.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(1675-1677)gGa>gAa		Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.							134.0	114.0	121.0					1																	57395177		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57395177C>T	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1676G>A	1.37:g.57395177C>T	ENSP00000360281:p.Gly559Glu					C8B_uc010oon.2_Missense_Mutation_p.G497E|C8B_uc010ooo.2_Missense_Mutation_p.G507E	p.G559E	NM_000066	NP_000057	P07358	CO8B_HUMAN			11	1743	-			559			TSP type-1 2.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.1676G>A	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606791	0.66558	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.19669	2.13;2.13;2.13	3.62	3.62	0.41486	.	0.118481	0.64402	D	0.000019	T	0.42562	0.1208	M	0.66506	2.035	0.80722	D	1	D;D;D	0.76494	0.961;0.961;0.999	P;P;D	0.67725	0.744;0.744;0.953	T	0.34725	-0.9817	10	0.39692	T	0.17	-21.2207	16.5699	0.84608	0.0:1.0:0.0:0.0	.	507;497;559	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	E	559;507;497	ENSP00000360281:G559E;ENSP00000442548:G507E;ENSP00000440113:G497E	ENSP00000360281:G559E	G	-	2	0	C8B	57167765	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	4.388000	0.59633	2.331000	0.79229	0.462000	0.41574	GGA		0.448	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2		
HOOK1	51361	broad.mit.edu	37	1	60294482	60294482	+	Missense_Mutation	SNP	A	A	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:60294482A>T	ENST00000371208.3	+	3	437	c.180A>T	c.(178-180)ttA>ttT	p.L60F	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.L18F	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	60	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AATCTTGGTTAAGCCGAATTA	0.348																																						uc009wad.3																			0				biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29						c.(178-180)ttA>ttT		Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.							123.0	115.0	118.0					1																	60294482		2203	4300	6503	SO:0001583	missense	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60294482A>T	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.180A>T	1.37:g.60294482A>T	ENSP00000360252:p.Leu60Phe					HOOK1_uc001czo.3_Missense_Mutation_p.L60F|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.L18F	p.L60F	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN			3	282	+	all_cancers(7;0.000129)		60			Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	c.180A>T	CCDS612.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.168960	0.78339	.	.	ENSG00000134709	ENST00000455990;ENST00000371208;ENST00000395561	T;T;T	0.37584	1.19;1.19;1.19	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.55016	0.1894	M	0.79475	2.455	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.56613	-0.7950	10	0.09590	T	0.72	.	10.4791	0.44682	0.8548:0.0:0.0:0.1452	.	60	Q9UJC3	HOOK1_HUMAN	F	60;60;18	ENSP00000398860:L60F;ENSP00000360252:L60F;ENSP00000378928:L18F	ENSP00000360252:L60F	L	+	3	2	HOOK1	60067070	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.508000	0.45450	2.242000	0.73789	0.482000	0.46254	TTA		0.348	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888	
COL11A1	1301	broad.mit.edu	37	1	103453212	103453212	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:103453212G>A	ENST00000370096.3	-	30	2791	c.2479C>T	c.(2479-2481)Cct>Tct	p.P827S	COL11A1_ENST00000353414.4_Missense_Mutation_p.P788S|COL11A1_ENST00000358392.2_Missense_Mutation_p.P839S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P711S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	827	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P839S(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGACCTGAAGGACCTGGGTCT	0.453																																						uc001dum.3																			1	Substitution - Missense(1)	p.P839S(2)	central_nervous_system(1)	NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(2515-2517)Cct>Tct		Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.							88.0	84.0	85.0					1																	103453212		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103453212G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2479C>T	1.37:g.103453212G>A	ENSP00000359114:p.Pro827Ser					COL11A1_uc001duk.3_Silent_p.V17V|COL11A1_uc001dul.3_Missense_Mutation_p.P827S|COL11A1_uc001dun.3_Missense_Mutation_p.P788S|COL11A1_uc009weh.3_Missense_Mutation_p.P711S	p.P839S	NM_080629	NP_542196	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	29	2833	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	827			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2515C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729540	0.48833	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48	4.39	3.39	0.38822	.	0.214637	0.39985	N	0.001203	D	0.95815	0.8638	M	0.61703	1.905	0.51482	D	0.999925	P;B;B;B	0.37636	0.603;0.03;0.03;0.018	P;B;B;B	0.46320	0.512;0.034;0.034;0.015	D	0.96186	0.9134	10	0.56958	D	0.05	.	13.4102	0.60938	0.0:0.2364:0.7636:0.0	.	711;788;839;827	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	S	827;839;788;711	ENSP00000359114:P827S;ENSP00000351163:P839S;ENSP00000302551:P788S;ENSP00000426533:P711S	ENSP00000302551:P788S	P	-	1	0	COL11A1	103225800	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	3.588000	0.53964	2.417000	0.82017	0.460000	0.39030	CCT		0.453	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
PYHIN1	149628	broad.mit.edu	37	1	158912123	158912123	+	Silent	SNP	G	G	A	rs549850036	byFrequency	TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:158912123G>A	ENST00000368140.1	+	5	1181	c.936G>A	c.(934-936)ccG>ccA	p.P312P	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Silent_p.P303P|PYHIN1_ENST00000392252.3_Silent_p.P303P|PYHIN1_ENST00000392254.2_Silent_p.P312P	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	312	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGAAAATTCCGAAGATCAATA	0.378													g|||	3	0.000599042	0.0008	0.0	5008	,	,		18380	0.0		0.0	False		,,,				2504	0.002					uc001ftb.3																			0		p.P312L(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(934-936)ccG>ccA		Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.							54.0	54.0	54.0					1																	158912123		2200	4297	6497	SO:0001819	synonymous_variant	149628				cell cycle	nuclear speck		g.chr1:158912123G>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.936G>A	1.37:g.158912123G>A						PYHIN1_uc001ftc.3_Silent_p.P303P|PYHIN1_uc001ftd.3_Silent_p.P312P|PYHIN1_uc001fte.3_Silent_p.P303P	p.P312P	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			4	1186	+	all_hematologic(112;0.0378)		312			HIN-200.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Silent	SNP	ENST00000368140.1	37	c.936G>A	CCDS1178.1																																																																																				0.378	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501	
RASAL2	9462	broad.mit.edu	37	1	178425898	178425898	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:178425898G>T	ENST00000462775.1	+	11	1956	c.1831G>T	c.(1831-1833)Gat>Tat	p.D611Y	RASAL2_ENST00000448150.3_Missense_Mutation_p.D741Y|RASAL2_ENST00000367649.3_Missense_Mutation_p.D752Y	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	611					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGTTCTTGCTGATATTACCAA	0.468																																						uc001glq.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2254-2256)Gat>Tat		Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.							214.0	221.0	219.0					1																	178425898		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178425898G>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1831G>T	1.37:g.178425898G>T	ENSP00000420558:p.Asp611Tyr					RASAL2_uc001glr.3_Missense_Mutation_p.D611Y|RASAL2_uc009wxc.3_Missense_Mutation_p.D125Y	p.D752Y	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN			12	3018	+			611					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.2254G>T	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.38|19.38	3.815974|3.815974	0.70912|0.70912	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775|ENST00000433130	T;T;T|.	0.19938|.	2.11;2.11;2.11|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Ras GTPase-activating protein (1);|.	0.169797|.	0.51477|.	D|.	0.000094|.	T|.	0.78502|.	0.4293|.	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.994;1.0|.	D;D;D|.	0.73708|.	0.981;0.973;0.941|.	T|.	0.79729|.	-0.1681|.	10|.	0.87932|.	D|.	0|.	.|.	18.6466|18.6466	0.91413|0.91413	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	741;611;752|.	B1AKC7;Q9UJF2;F8W755|.	.;NGAP_HUMAN;.|.	Y|L	741;752;611|161	ENSP00000407768:D741Y;ENSP00000356621:D752Y;ENSP00000420558:D611Y|.	ENSP00000356621:D752Y|.	D|X	+|+	1|2	0|2	RASAL2|RASAL2	176692521|176692521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.272000|9.272000	0.95707|0.95707	2.381000|2.381000	0.81170|0.81170	0.655000|0.655000	0.94253|0.94253	GAT|TGA		0.468	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692	
STX6	10228	broad.mit.edu	37	1	180971810	180971810	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:180971810A>G	ENST00000258301.5	-	3	469	c.232T>C	c.(232-234)Ttt>Ctt	p.F78L	STX6_ENST00000542060.1_Intron	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	78					endosome organization (GO:0007032)|Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|trans-Golgi network membrane (GO:0032588)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						TCAAGGTTAAATTTTCTAGGA	0.353																																						uc021pfr.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						c.(232-234)Ttt>Ctt		Homo sapiens syntaxin 6 (STX6), mRNA.							158.0	152.0	154.0					1																	180971810		2201	4300	6501	SO:0001583	missense	10228				Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity	g.chr1:180971810A>G	AJ002078	CCDS1341.1, CCDS65738.1	1q25.3	2008-02-05			ENSG00000135823	ENSG00000135823			11441	protein-coding gene	gene with protein product		603944				10080545	Standard	XM_005244824		Approved		uc021pfr.1	O43752	OTTHUMG00000035179	ENST00000258301.5:c.232T>C	1.37:g.180971810A>G	ENSP00000258301:p.Phe78Leu					STX6_uc010pnr.2_Intron	p.F78L	NM_005819	NP_005810	O43752	STX6_HUMAN			2	469	-			78					B2R652|B4DR17|Q5VY08|Q6FH83	Missense_Mutation	SNP	ENST00000258301.5	37	c.232T>C	CCDS1341.1	.	.	.	.	.	.	.	.	.	.	A	32	5.181537	0.94885	.	.	ENSG00000135823	ENST00000258301	.	.	.	5.58	5.58	0.84498	t-SNARE (1);Syntaxin 6, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84969	0.5590	M	0.92026	3.265	0.47153	D	0.999332	D	0.76494	0.999	D	0.70016	0.967	D	0.89043	0.3450	8	0.87932	D	0	-18.0318	15.4292	0.75077	1.0:0.0:0.0:0.0	.	78	O43752	STX6_HUMAN	L	78	.	ENSP00000258301:F78L	F	-	1	0	STX6	179238433	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.324000	0.90005	2.112000	0.64535	0.533000	0.62120	TTT		0.353	STX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085143.1	NM_005819	
CENPF	1063	broad.mit.edu	37	1	214787153	214787153	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:214787153A>G	ENST00000366955.3	+	2	224	c.56A>G	c.(55-57)aAa>aGa	p.K19R		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.K19R(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GCTCTTCAGAAAATTCAAGAG	0.428																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.3																			1	Substitution - Missense(1)	p.K19R(2)|p.Q18*(1)	central_nervous_system(1)	NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(55-57)aAa>aGa		Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.							74.0	80.0	78.0					1																	214787153		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214787153A>G	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.56A>G	1.37:g.214787153A>G	ENSP00000355922:p.Lys19Arg						p.K19R	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	1	230	+			19			Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.56A>G	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.035572	0.93630	.	.	ENSG00000117724	ENST00000366955	T	0.36520	1.25	5.05	5.05	0.67936	Centromere protein Cenp-F, N-terminal (1);	0.000000	0.34959	N	0.003541	T	0.61515	0.2353	.	.	.	0.46499	D	0.999079	D	0.89917	1.0	D	0.97110	1.0	T	0.66650	-0.5870	9	0.66056	D	0.02	.	15.0963	0.72238	1.0:0.0:0.0:0.0	.	19	P49454	CENPF_HUMAN	R	19	ENSP00000355922:K19R	ENSP00000355922:K19R	K	+	2	0	CENPF	212853776	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	7.199000	0.77831	2.034000	0.60081	0.455000	0.32223	AAA		0.428	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
OBSCN	84033	broad.mit.edu	37	1	228504460	228504460	+	Missense_Mutation	SNP	G	G	A	rs577609031	byFrequency	TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:228504460G>A	ENST00000422127.1	+	51	13380	c.13336G>A	c.(13336-13338)Ggc>Agc	p.G4446S	OBSCN_ENST00000284548.11_Missense_Mutation_p.G4446S|OBSCN_ENST00000366707.4_Missense_Mutation_p.G2080S|OBSCN_ENST00000570156.2_Missense_Mutation_p.G5403S|OBSCN_ENST00000366709.4_Missense_Mutation_p.G1565S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4446	Ig-like 46.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTCCGGGCCGGCGCACAGGC	0.672													g|||	2	0.000399361	0.0	0.0	5008	,	,		14779	0.001		0.001	False		,,,				2504	0.0					uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(13336-13338)Ggc>Agc		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							14.0	18.0	17.0					1																	228504460		2050	4173	6223	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228504460G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13336G>A	1.37:g.228504460G>A	ENSP00000409493:p.Gly4446Ser					OBSCN_uc001hsn.3_Missense_Mutation_p.G4446S	p.G4446S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			50	13380	+		Prostate(94;0.0405)	4446			Ig-like 46.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.13336G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	32	5.105745	0.94292	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	D;D;T;T	0.83914	-1.78;-1.78;-0.65;-0.3	5.14	4.21	0.49690	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.069314	0.56097	D	0.000025	D	0.89424	0.6711	M	0.67517	2.055	0.52099	D	0.99994	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.972	D	0.88642	0.3176	10	0.38643	T	0.18	.	15.6348	0.76944	0.0:0.138:0.862:0.0	.	4446;4446	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	S	4446;4446;2080;1565	ENSP00000284548:G4446S;ENSP00000409493:G4446S;ENSP00000355668:G2080S;ENSP00000355670:G1565S	ENSP00000284548:G4446S	G	+	1	0	OBSCN	226571083	1.000000	0.71417	0.019000	0.16419	0.000000	0.00434	7.063000	0.76714	1.140000	0.42260	-0.324000	0.08512	GGC		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OR2L13	284521	broad.mit.edu	37	1	248263034	248263034	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:248263034C>T	ENST00000358120.2	+	2	502	c.357C>T	c.(355-357)taC>taT	p.Y119Y	OR2L13_ENST00000366478.2_Silent_p.Y119Y			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y119Y(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			CCATGGCCTACGACCGTTATT	0.512																																						uc001ids.3																			2	Substitution - coding silent(2)	p.Y119Y(3)|p.A118E(1)	lung(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(355-357)taC>taT		Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.							221.0	206.0	211.0					1																	248263034		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263034C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.357C>T	1.37:g.248263034C>T						OR2L13_uc021pmc.1_Silent_p.Y119Y	p.Y119Y	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		2	694	+	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)		119					Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.357C>T	CCDS1637.1																																																																																				0.512	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911	
FAM208B	54906	broad.mit.edu	37	10	5791482	5791482	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr10:5791482C>T	ENST00000328090.5	+	15	6723	c.6098C>T	c.(6097-6099)cCt>cTt	p.P2033L		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2033																	CATCCTGCACCTAGGAGCAGA	0.547																																						uc001iij.3																			0											c.(6097-6099)cCt>cTt		Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.							112.0	117.0	115.0					10																	5791482		1937	4154	6091	SO:0001583	missense	54906							g.chr10:5791482C>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6098C>T	10.37:g.5791482C>T	ENSP00000328426:p.Pro2033Leu					FAM208B_uc001iik.3_Missense_Mutation_p.P877L	p.P2033L	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			14	6723	+			2033					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.6098C>T	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	3.653	-0.071131	0.07228	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04156	3.69	5.92	1.75	0.24633	.	0.794758	0.11581	N	0.549698	T	0.04137	0.0115	L	0.34521	1.04	0.09310	N	0.999999	B	0.26318	0.146	B	0.22152	0.038	T	0.41270	-0.9518	10	0.42905	T	0.14	.	6.0531	0.19796	0.2482:0.5664:0.1198:0.0656	.	2033	Q5VWN6	F208B_HUMAN	L	2033;1228	ENSP00000328426:P2033L	ENSP00000328426:P2033L	P	+	2	0	C10orf18	5831488	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.350000	0.20079	0.389000	0.25086	-1.102000	0.02115	CCT		0.547	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782	
ARMC3	219681	broad.mit.edu	37	10	23250972	23250972	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr10:23250972G>A	ENST00000298032.5	+	7	781	c.697G>A	c.(697-699)Gga>Aga	p.G233R	ARMC3_ENST00000409049.3_Missense_Mutation_p.G233R|ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409983.3_Missense_Mutation_p.G233R	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	233						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGACAATCAAGGATTGGACCA	0.358																																						uc001irm.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(697-699)Gga>Aga		Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.							70.0	63.0	65.0					10																	23250972		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23250972G>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.697G>A	10.37:g.23250972G>A	ENSP00000298032:p.Gly233Arg					ARMC3_uc010qcv.2_Missense_Mutation_p.G233R|ARMC3_uc010qcw.2_Intron	p.G233R	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			6	780	+			233					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.697G>A	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729699	0.89390	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049	T;T;T	0.32988	2.33;2.33;1.43	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.053071	0.85682	D	0.000000	T	0.62258	0.2413	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.992;0.999	T	0.66329	-0.5951	10	0.87932	D	0	-23.3157	19.746	0.96252	0.0:0.0:1.0:0.0	.	233;233	Q5W041-4;Q5W041	.;ARMC3_HUMAN	R	233;233;169;233	ENSP00000298032:G233R;ENSP00000386943:G233R;ENSP00000387288:G233R	ENSP00000298032:G233R	G	+	1	0	ARMC3	23290978	1.000000	0.71417	0.984000	0.44739	0.953000	0.61014	7.414000	0.80117	2.673000	0.90976	0.650000	0.86243	GGA		0.358	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081	
ZNF248	57209	broad.mit.edu	37	10	38126948	38126948	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr10:38126948A>G	ENST00000395867.3	-	4	657	c.107T>C	c.(106-108)gTg>gCg	p.V36A	ZNF248_ENST00000374648.3_Missense_Mutation_p.V36A|ZNF248_ENST00000494133.1_5'UTR|ZNF248_ENST00000357328.4_Missense_Mutation_p.V36A	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	36	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TTCCAGGATCACATCTCTGTA	0.413																																						uc001izd.1																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(106-108)gTg>gCg		Homo sapiens zinc finger protein 248 (ZNF248), mRNA.							163.0	156.0	158.0					10																	38126948		2203	4300	6503	SO:0001583	missense	57209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38126948A>G	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.107T>C	10.37:g.38126948A>G	ENSP00000379208:p.Val36Ala					ZNF248_uc009xmc.2_Missense_Mutation_p.V36A|ZNF248_uc001izb.3_Non-coding_Transcript|ZNF248_uc001izc.3_Missense_Mutation_p.V36A|ZNF248_uc010qeu.1_Missense_Mutation_p.V36A	p.V36A	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN			3	606	-			36			KRAB.		Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	37	c.107T>C	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.751437	0.49257	.	.	ENSG00000198105	ENST00000395867;ENST00000374648;ENST00000357328;ENST00000395873;ENST00000395874	T;T;T;T;T	0.03951	3.75;3.75;3.75;3.75;3.75	4.43	4.43	0.53597	Krueppel-associated box (4);	0.175886	0.27544	N	0.018900	T	0.32071	0.0817	H	0.97103	3.94	0.38525	D	0.948836	D;D	0.76494	0.999;0.992	D;P	0.85130	0.997;0.832	T	0.52548	-0.8561	10	0.87932	D	0	.	11.9297	0.52839	1.0:0.0:0.0:0.0	.	36;36	Q8NDW4;Q8NDV8	ZN248_HUMAN;.	A	36	ENSP00000379208:V36A;ENSP00000363778:V36A;ENSP00000349882:V36A;ENSP00000379214:V36A;ENSP00000379215:V36A	ENSP00000349882:V36A	V	-	2	0	ZNF248	38166954	1.000000	0.71417	1.000000	0.80357	0.218000	0.24690	4.328000	0.59253	1.976000	0.57569	0.460000	0.39030	GTG		0.413	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045	
PTEN	5728	broad.mit.edu	37	10	89692907	89692907	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr10:89692907A>G	ENST00000371953.3	+	5	1748	c.391A>G	c.(391-393)Act>Gct	p.T131A		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	131	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.T131fs*3(3)|p.Y27fs*1(2)|p.K128_R130del(2)|p.T131A(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131P(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAGGGACGAACTGGTGTAAT	0.398		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		60	Whole gene deletion(37)|Deletion - Frameshift(13)|Unknown(5)|Deletion - In frame(3)|Substitution - Missense(2)	p.R130G(110)|p.R130*(72)|p.R130Q(68)|p.0?(37)|p.R130fs*4(15)|p.R130L(13)|p.R130P(7)|p.K128_R130del(7)|p.T131fs*3(6)|p.?(5)|p.R55fs*1(5)|p.Y27_N212>Y(2)|p.A121_F145del(2)|p.T131A(2)|p.R130fs*2(2)|p.Y27fs*1(2)|p.T131P(2)|p.T131I(1)|p.K128fs*47(1)|p.R130R(1)|p.T131fs*50(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.R130?(1)|p.T131N(1)	prostate(16)|central_nervous_system(12)|endometrium(6)|skin(6)|ovary(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(391-393)Act>Gct		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							139.0	129.0	132.0					10																	89692907		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692907A>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.391A>G	10.37:g.89692907A>G	ENSP00000361021:p.Thr131Ala	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.T131A	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1423	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	131			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.391A>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.743653	0.89663	.	.	ENSG00000171862	ENST00000371953	D	0.99369	-5.78	5.09	5.09	0.68999	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.101247	0.64402	D	0.000003	D	0.99339	0.9768	M	0.81341	2.54	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99072	1.0834	9	.	.	.	-3.3726	14.8682	0.70434	1.0:0.0:0.0:0.0	.	131	P60484	PTEN_HUMAN	A	131	ENSP00000361021:T131A	.	T	+	1	0	PTEN	89682887	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.918000	0.92759	1.898000	0.54952	0.460000	0.39030	ACT		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PHRF1	57661	broad.mit.edu	37	11	608380	608380	+	Missense_Mutation	SNP	A	A	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr11:608380A>T	ENST00000264555.5	+	14	3052	c.2924A>T	c.(2923-2925)gAc>gTc	p.D975V	PHRF1_ENST00000533464.1_Missense_Mutation_p.D971V|PHRF1_ENST00000413872.2_Missense_Mutation_p.D973V|PHRF1_ENST00000416188.2_Missense_Mutation_p.D974V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	975					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCCAGCCCGGACGTGCTGCAG	0.657																																						uc001lqe.3																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(2923-2925)gAc>gTc		Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.							19.0	25.0	23.0					11																	608380		2038	4173	6211	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:608380A>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2924A>T	11.37:g.608380A>T	ENSP00000264555:p.Asp975Val					PHRF1_uc010qwc.2_Missense_Mutation_p.D974V|PHRF1_uc010qwd.2_Missense_Mutation_p.D973V|PHRF1_uc010qwe.2_Missense_Mutation_p.D971V|PHRF1_uc009ybz.1_Missense_Mutation_p.D765V|PHRF1_uc009yca.2_Non-coding_Transcript	p.D975V	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			13	3055	+			975					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.2924A>T		.	.	.	.	.	.	.	.	.	.	A	7.861	0.726127	0.15439	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	4.09	-1.44	0.08856	.	0.597737	0.13762	N	0.364548	T	0.60779	0.2295	L	0.29908	0.895	0.09310	N	0.999999	P;P;P;P	0.38078	0.483;0.617;0.617;0.483	B;B;B;B	0.33960	0.084;0.173;0.173;0.084	T	0.53933	-0.8368	10	0.52906	T	0.07	-4.6263	1.4107	0.02291	0.4426:0.2729:0.1525:0.132	.	971;973;974;975	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	V	975;973;974;971	ENSP00000264555:D975V;ENSP00000388589:D973V;ENSP00000410626:D974V;ENSP00000431870:D971V	ENSP00000264555:D975V	D	+	2	0	PHRF1	598380	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.188000	0.17018	-0.371000	0.08004	0.459000	0.35465	GAC		0.657	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901	
OR51D1	390038	broad.mit.edu	37	11	4661587	4661587	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr11:4661587C>T	ENST00000357605.2	+	1	643	c.567C>T	c.(565-567)caC>caT	p.H189H		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTCACACACTCCTTCTGTC	0.483																																						uc010qyk.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(565-567)caC>caT		Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.							295.0	247.0	264.0					11																	4661587		2201	4298	6499	SO:0001819	synonymous_variant	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661587C>T	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.567C>T	11.37:g.4661587C>T							p.H189H	NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	643	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	189					B9EIK4	Silent	SNP	ENST00000357605.2	37	c.567C>T	CCDS31357.1																																																																																				0.483	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751	
PICALM	8301	broad.mit.edu	37	11	85733503	85733503	+	Missense_Mutation	SNP	A	A	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr11:85733503A>T	ENST00000393346.3	-	4	507	c.359T>A	c.(358-360)aTg>aAg	p.M120K	PICALM_ENST00000532317.1_Missense_Mutation_p.M120K|PICALM_ENST00000528411.1_5'UTR|PICALM_ENST00000526033.1_Missense_Mutation_p.M120K|PICALM_ENST00000528398.1_Missense_Mutation_p.M69K|PICALM_ENST00000356360.5_Missense_Mutation_p.M120K			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	120	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				AAATGTAGACATGTCATATCC	0.303			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	uc001pbm.3				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	"""MLLT10, MLL"""		"""TALL, AML, """		0				endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(358-360)aTg>aAg		Homo sapiens phosphatidylinositol binding clathrin assembly protein (PICALM), transcript variant 1, mRNA.							76.0	79.0	78.0					11																	85733503		2202	4294	6496	SO:0001583	missense	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85733503A>T	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.359T>A	11.37:g.85733503A>T	ENSP00000377015:p.Met120Lys					PICALM_uc001pbl.3_Missense_Mutation_p.M120K|PICALM_uc001pbn.3_Missense_Mutation_p.M120K|PICALM_uc010rtl.2_Missense_Mutation_p.M69K	p.M120K	NM_007166	NP_009097	Q13492	PICAL_HUMAN			3	676	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	120			ENTH.		B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	ENST00000393346.3	37	c.359T>A	CCDS8272.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.095821	0.76870	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360;ENST00000531930;ENST00000525162;ENST00000528256	T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.34	5.34	0.76211	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.54870	0.1885	M	0.71920	2.185	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;1.0;0.997;1.0	T	0.55630	-0.8111	9	.	.	.	-17.7477	15.3632	0.74499	1.0:0.0:0.0:0.0	.	69;120;120;120	E9PN05;F8VPG7;Q13492;Q13492-3	.;.;PICAL_HUMAN;.	K	120;120;120;120;69;120;86;69;86	ENSP00000436958:M120K;ENSP00000433846:M120K;ENSP00000377015:M120K;ENSP00000434884:M69K;ENSP00000348718:M120K;ENSP00000433303:M86K;ENSP00000436508:M69K;ENSP00000431545:M86K	.	M	-	2	0	PICALM	85411151	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.252000	0.95491	2.026000	0.59711	0.378000	0.23410	ATG		0.303	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166	
ANO2	57101	broad.mit.edu	37	12	5842030	5842030	+	Splice_Site	SNP	A	A	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr12:5842030A>G	ENST00000356134.5	-	15	1509		c.e15+1		ANO2_ENST00000546188.1_Intron|ANO2_ENST00000538154.1_Intron|ANO2_ENST00000327087.8_Splice_Site	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel						chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TGAAAACCAAACCTGGGCACG	0.483																																						uc001qnm.2																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.e14+1		Homo sapiens anoctamin 2 (ANO2), mRNA.							161.0	157.0	158.0					12																	5842030		2049	4197	6246	SO:0001630	splice_region_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5842030A>G	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1437+1T>C	12.37:g.5842030A>G							p.Q478_splice	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			14	1506	-			483					C4N787|Q9H847	Splice_Site	SNP	ENST00000356134.5	37	c.1434_splice		.	.	.	.	.	.	.	.	.	.	A	16.87	3.243174	0.58995	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000541277	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2554	0.54621	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANO2	5712291	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.389000	0.59639	2.003000	0.58678	0.460000	0.39030	.		0.483	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	Intron
GNB3	2784	broad.mit.edu	37	12	6946911	6946911	+	5'Flank	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr12:6946911G>A	ENST00000229264.3	+	0	0				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000251761.8_RNA	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3						cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CAAGAGCAGCGCATGGACCTG	0.652																																						uc001qra.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(1723-1725)cGc>cAc		Homo sapiens leprecan-like 2 (LEPREL2), mRNA.							32.0	39.0	36.0					12																	6946911		2124	4241	6365	SO:0001631	upstream_gene_variant	10536					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6946911G>A		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517		12.37:g.6946911G>A	Exception_encountered					GPR162_uc001qrb.1_Missense_Mutation_p.R383H|GNB3_uc001qrc.3_5'Flank|GNB3_uc001qrd.3_5'Flank	p.R575H	NM_014262	NP_055077	Q16538	GP162_HUMAN			12	1758	+			0					Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.1724G>A	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130378	0.94473	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.68479	-0.33;-0.33	4.69	4.69	0.59074	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.051196	0.85682	D	0.000000	D	0.82852	0.5127	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85773	0.1356	9	0.87932	D	0	-7.6956	17.8129	0.88622	0.0:0.0:1.0:0.0	.	576	Q8IVL6	P3H3_HUMAN	H	575;391	ENSP00000379951:R575H;ENSP00000290510:R391H	ENSP00000290510:R391H	R	+	2	0	LEPREL2	6817172	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.221000	0.95188	2.434000	0.82447	0.561000	0.74099	CGC		0.652	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075	
NOS1	4842	broad.mit.edu	37	12	117768967	117768967	+	De_novo_Start_InFrame	SNP	C	C	T	rs566348671		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr12:117768967C>T	ENST00000317775.6	-	0	593				NOS1_ENST00000338101.4_5'Flank|NOS1_ENST00000344089.3_De_novo_Start_InFrame|NOS1_ENST00000549189.1_5'Flank	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)						cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TCAGGCTACACGGAGAGCAGG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		18943	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(162;1748 2599 51982 52956)	uc001twn.2																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117								Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	L-Citrulline(DB00155)																																					4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117768967C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376		12.37:g.117768967C>T						NOS1_uc001twm.2_5'UTR		NM_001204218	NP_001191147	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	1		-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)								Translation_Start_Site	SNP	ENST00000317775.6	37		CCDS41842.1																																																																																				0.582	NOS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268052.1		
UBC	7316	broad.mit.edu	37	12	125397201	125397201	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr12:125397201G>T	ENST00000536769.1	-	1	2693	c.1117C>A	c.(1117-1119)Ctg>Atg	p.L373M	MIR5188_ENST00000583467.1_RNA|UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Missense_Mutation_p.L297M|UBC_ENST00000339647.5_Missense_Mutation_p.L373M			P0CG48	UBC_HUMAN	ubiquitin C	373	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CGGAGCACCAGGTGCAAGGTG	0.532																																						uc001ugs.4																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1117-1119)Ctg>Atg		Homo sapiens ubiquitin C (UBC), mRNA.							230.0	211.0	217.0					12																	125397201		2203	4300	6503	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397201G>T		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1117C>A	12.37:g.125397201G>T	ENSP00000441543:p.Leu373Met					UBC_uc001ugr.3_Intron|UBC_uc001ugt.3_Missense_Mutation_p.L373M|UBC_uc001ugu.1_Missense_Mutation_p.L373M|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Missense_Mutation_p.L373M	p.L373M	NM_021009	NP_066289	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	1575	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		373			Ubiquitin-like 5.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	c.1117C>A	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407639	0.42715	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.47869	0.83;0.83;0.83	3.16	2.22	0.28083	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.36374	U	0.002623	T	0.61248	0.2332	M	0.67953	2.075	0.58432	D	0.999994	D;D;P	0.57571	0.98;0.975;0.943	D;D;D	0.76575	0.988;0.979;0.941	T	0.63686	-0.6581	10	0.87932	D	0	.	8.306	0.32042	0.1291:0.0:0.8709:0.0	.	462;373;373	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	M	373;373;297;373;297	ENSP00000441543:L373M;ENSP00000344818:L373M;ENSP00000438394:L297M	ENSP00000344818:L373M	L	-	1	2	UBC	123963154	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.063000	0.41423	1.611000	0.50210	0.550000	0.68814	CTG		0.532	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009	
OCA2	4948	broad.mit.edu	37	15	28202861	28202861	+	Missense_Mutation	SNP	C	C	G	rs552418165		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:28202861C>G	ENST00000354638.3	-	16	1812	c.1657G>C	c.(1657-1659)Gtc>Ctc	p.V553L	OCA2_ENST00000382996.2_Missense_Mutation_p.V553L|OCA2_ENST00000353809.5_Missense_Mutation_p.V529L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	553					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.V553I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGCGCCAGACGTGAATCTCG	0.617									Oculocutaneous Albinism																													uc001zbh.4																			1	Substitution - Missense(1)	p.V553I(2)|p.H552H(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1657-1659)Gtc>Ctc		Homo sapiens oculocutaneous albinism II (OCA2), mRNA.							27.0	28.0	28.0					15																	28202861		2203	4299	6502	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28202861C>G		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1657G>C	15.37:g.28202861C>G	ENSP00000346659:p.Val553Leu					OCA2_uc010ayv.3_Missense_Mutation_p.V529L	p.V553L	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	15	1767	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	553					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1657G>C	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425067	0.83667	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.90900	-2.75;-2.54;-2.74	5.8	5.8	0.92144	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	D	0.93015	0.7777	L	0.49126	1.545	0.58432	D	0.999996	D;D	0.56035	0.974;0.97	P;P	0.60117	0.704;0.869	D	0.92387	0.5918	10	0.46703	T	0.11	-31.6376	17.5483	0.87869	0.0:1.0:0.0:0.0	.	529;553	Q04671-2;Q04671	.;P_HUMAN	L	553;529;553	ENSP00000346659:V553L;ENSP00000261276:V529L;ENSP00000372457:V553L	ENSP00000261276:V529L	V	-	1	0	OCA2	25876456	1.000000	0.71417	0.937000	0.37676	0.516000	0.34256	6.883000	0.75595	2.746000	0.94184	0.591000	0.81541	GTC		0.617	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275	
TRPM1	4308	broad.mit.edu	37	15	31342763	31342763	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:31342763G>A	ENST00000256552.6	-	12	1433	c.1286C>T	c.(1285-1287)cCg>cTg	p.P429L	TRPM1_ENST00000542188.1_Missense_Mutation_p.P446L|TRPM1_ENST00000397795.2_Missense_Mutation_p.P407L	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GCTGTCCGTCGGGGGTGCCAG	0.557																																						uc021sia.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(1336-1338)cCg>cTg		Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.							75.0	74.0	74.0					15																	31342763		1954	4143	6097	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31342763G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1286C>T	15.37:g.31342763G>A	ENSP00000256552:p.Pro429Leu					TRPM1_uc010azy.3_Missense_Mutation_p.P314L|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.P429L|TRPM1_uc001zfm.3_Missense_Mutation_p.P407L	p.P446L	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	10	1651	-		all_lung(180;1.92e-11)	407						Missense_Mutation	SNP	ENST00000256552.6	37	c.1337C>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	8.510	0.866323	0.17250	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.50277	0.77;0.75;0.77	4.97	4.97	0.65823	.	0.261461	0.39146	N	0.001441	T	0.25269	0.0614	N	0.08118	0	0.50632	D	0.999888	P;P	0.38048	0.533;0.616	B;B	0.24394	0.053;0.038	T	0.20438	-1.0275	10	0.49607	T	0.09	-17.4249	15.7139	0.77652	0.0:0.0:1.0:0.0	.	401;407	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	L	407;446;429;407	ENSP00000380897:P407L;ENSP00000437849:P446L;ENSP00000256552:P429L	ENSP00000256552:P429L	P	-	2	0	TRPM1	29130055	1.000000	0.71417	0.349000	0.25694	0.021000	0.10359	4.118000	0.57884	2.298000	0.77334	0.313000	0.20887	CCG		0.557	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
EXD1	161829	broad.mit.edu	37	15	41483752	41483752	+	Missense_Mutation	SNP	G	G	A	rs200349978		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:41483752G>A	ENST00000314992.5	-	8	768	c.578C>T	c.(577-579)aCg>aTg	p.T193M	EXD1_ENST00000458580.2_Missense_Mutation_p.T251M|RN7SL497P_ENST00000476341.2_RNA	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	193							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						ATAGCCACCCGTTTCCATGGA	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		18025	0.001		0.0	False		,,,				2504	0.0					uc010ucv.2																			0				large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						c.(751-753)aCg>aTg		Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.							102.0	102.0	102.0					15																	41483752		2203	4300	6503	SO:0001583	missense	161829				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr15:41483752G>A	BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.578C>T	15.37:g.41483752G>A	ENSP00000321029:p.Thr193Met					EXD1_uc001znj.3_5'Flank|EXD1_uc001znk.3_Missense_Mutation_p.T193M	p.T251M	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN			9	1024	-			193					A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	ENST00000314992.5	37	c.752C>T	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281791	0.80692	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.50813	0.73;0.73	5.38	5.38	0.77491	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.64283	0.2584	L	0.49126	1.545	0.41503	D	0.988296	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65331	-0.6194	10	0.56958	D	0.05	-5.7963	16.9067	0.86130	0.0:0.0:1.0:0.0	.	251;193	B7Z839;Q8NHP7	.;EXD1_HUMAN	M	193;251	ENSP00000321029:T193M;ENSP00000415056:T251M	ENSP00000321029:T193M	T	-	2	0	EXD1	39271044	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	6.891000	0.75639	2.522000	0.85027	0.313000	0.20887	ACG		0.383	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596	
SPG11	80208	broad.mit.edu	37	15	44876437	44876437	+	Missense_Mutation	SNP	T	T	C			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:44876437T>C	ENST00000261866.7	-	30	5457	c.5441A>G	c.(5440-5442)aAt>aGt	p.N1814S	SPG11_ENST00000427534.2_Missense_Mutation_p.N1814S|SPG11_ENST00000535302.2_Missense_Mutation_p.N1814S|SPG11_ENST00000558253.1_5'Flank|SPG11_ENST00000558319.1_Missense_Mutation_p.N1814S	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1814					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTCCTCCTGATTTCTTCCAAG	0.512																																						uc001ztx.3																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(5440-5442)aAt>aGt		Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.							100.0	97.0	98.0					15																	44876437		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44876437T>C		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.5441A>G	15.37:g.44876437T>C	ENSP00000261866:p.Asn1814Ser					SPG11_uc010bdw.3_Missense_Mutation_p.N103S|SPG11_uc010ueh.2_Missense_Mutation_p.N1814S|SPG11_uc010uei.2_Missense_Mutation_p.N1814S|SPG11_uc001zty.1_Missense_Mutation_p.N543S	p.N1814S	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	29	5472	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1814					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.5441A>G	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.264416	0.23136	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.76316	-1.01;-0.76;-0.75	5.79	-4.76	0.03229	.	0.997533	0.08119	N	0.994970	T	0.47691	0.1459	N	0.03115	-0.41	0.09310	N	0.999999	B;B;B;B	0.12630	0.003;0.006;0.001;0.001	B;B;B;B	0.11329	0.003;0.006;0.003;0.003	T	0.42749	-0.9433	10	0.09338	T	0.73	.	7.8619	0.29514	0.0:0.4218:0.2374:0.3408	.	1814;1814;1814;1814	C4B7M2;F5H3N6;C4B7M4;Q96JI7	.;.;.;SPTCS_HUMAN	S	1814	ENSP00000261866:N1814S;ENSP00000445278:N1814S;ENSP00000396110:N1814S	ENSP00000261866:N1814S	N	-	2	0	SPG11	42663729	0.000000	0.05858	0.000000	0.03702	0.759000	0.43091	-0.362000	0.07602	-0.763000	0.04658	0.455000	0.32223	AAT		0.512	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		
SEMA6D	80031	broad.mit.edu	37	15	48056239	48056239	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:48056239G>A	ENST00000316364.5	+	10	1379	c.940G>A	c.(940-942)Ggg>Agg	p.G314R	SEMA6D_ENST00000358066.4_Missense_Mutation_p.G314R|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G314R|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G314R|SEMA6D_ENST00000355997.3_Missense_Mutation_p.G314R|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G314R|SEMA6D_ENST00000389425.3_Missense_Mutation_p.G314R|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G314R|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G314R|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G314R|SEMA6D_ENST00000558816.1_Missense_Mutation_p.G314R|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G314R	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	314	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CACTGTGGTCGGGGTGTTTAC	0.483																																						uc010bek.3																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(940-942)Ggg>Agg		Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.							91.0	83.0	86.0					15																	48056239		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48056239G>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.940G>A	15.37:g.48056239G>A	ENSP00000324857:p.Gly314Arg					SEMA6D_uc001zvw.3_Missense_Mutation_p.G314R|SEMA6D_uc001zvx.1_Missense_Mutation_p.G314R|SEMA6D_uc001zvy.3_Missense_Mutation_p.G314R|SEMA6D_uc001zvz.3_Missense_Mutation_p.G314R|SEMA6D_uc001zwa.3_Missense_Mutation_p.G314R|SEMA6D_uc001zwb.3_Missense_Mutation_p.G314R|SEMA6D_uc001zwc.3_Missense_Mutation_p.G314R	p.G314R	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	9	1300	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	314			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.940G>A	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	34	5.403683	0.96051	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.58850	0.2151	M	0.91768	3.24	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.992;1.0	T	0.66540	-0.5898	10	0.87932	D	0	.	20.206	0.98277	0.0:0.0:1.0:0.0	.	314;314;314;314;314	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	R	314	ENSP00000442040:G314R;ENSP00000446152:G314R;ENSP00000324857:G314R;ENSP00000374084:G314R;ENSP00000374083:G314R;ENSP00000346786:G314R;ENSP00000350770:G314R;ENSP00000374079:G314R;ENSP00000348276:G314R;ENSP00000374076:G314R	ENSP00000324857:G314R	G	+	1	0	SEMA6D	45843531	1.000000	0.71417	0.951000	0.38953	0.965000	0.64279	9.869000	0.99810	2.785000	0.95823	0.655000	0.94253	GGG		0.483	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966	
ALDH1A2	8854	broad.mit.edu	37	15	58253017	58253017	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:58253017C>T	ENST00000249750.4	-	12	2202	c.1435G>A	c.(1435-1437)Gcc>Acc	p.A479T	ALDH1A2_ENST00000537372.1_Missense_Mutation_p.A458T|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.A450T|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.A441T|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.A383T	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	479					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	GGGCTCTGGGCATTTAAGGCA	0.408																																						uc002aex.3																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1435-1437)Gcc>Acc		Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						90.0	85.0	86.0					15																	58253017		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58253017C>T	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.1435G>A	15.37:g.58253017C>T	ENSP00000249750:p.Ala479Thr					ALDH1A2_uc010ugv.2_Missense_Mutation_p.A458T|ALDH1A2_uc002aey.3_Missense_Mutation_p.A441T|ALDH1A2_uc010ugw.2_Missense_Mutation_p.A450T|ALDH1A2_uc002aew.3_Missense_Mutation_p.A383T	p.A479T	NM_003888	NP_733798	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	11	1708	-			479					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.1435G>A	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058429	0.55325	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.17054	2.3;2.3;2.3	5.43	4.48	0.54585	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.161216	0.56097	D	0.000036	T	0.20292	0.0488	L	0.55743	1.74	0.46260	D	0.998953	B;B;B;B	0.19583	0.037;0.011;0.001;0.002	B;B;B;B	0.24269	0.052;0.031;0.007;0.019	T	0.03112	-1.1071	10	0.49607	T	0.09	.	15.3689	0.74548	0.0:0.861:0.139:0.0	.	450;458;441;479	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	T	479;383;450;441;458	ENSP00000249750:A479T;ENSP00000309623:A441T;ENSP00000438296:A458T	ENSP00000249750:A479T	A	-	1	0	ALDH1A2	56040309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.591000	0.61019	2.549000	0.85964	0.655000	0.94253	GCC		0.408	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1		
CLDN6	9074	broad.mit.edu	37	16	3065604	3065604	+	Missense_Mutation	SNP	G	G	A	rs369700162		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:3065604G>A	ENST00000396925.1	-	3	847	c.419C>T	c.(418-420)gCg>gTg	p.A140V	TNFRSF12A_ENST00000573001.1_5'Flank|CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Missense_Mutation_p.A140V			P56747	CLD6_HUMAN	claudin 6	140					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GATGGCATGCGCCGTCCAGCA	0.622																																						uc021tbb.1																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(418-420)gCg>gTg		Homo sapiens claudin 6 (CLDN6), mRNA.		G	VAL/ALA	0,4394		0,0,2197	25.0	27.0	26.0		419	4.8	0.9	16		26	1,8589		0,1,4294	no	missense	CLDN6	NM_021195.4	64	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	140/221	3065604	1,12983	2197	4295	6492	SO:0001583	missense	9074				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3065604G>A	AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"""Claudins"""	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.419C>T	16.37:g.3065604G>A	ENSP00000380131:p.Ala140Val					CLDN6_uc002csu.4_Missense_Mutation_p.A140V	p.A140V	NM_021195	NP_067018	P56747	CLD6_HUMAN			0	419	-			140					B3KQP9|D3DUA5	Missense_Mutation	SNP	ENST00000396925.1	37	c.419C>T	CCDS10488.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656689	0.67586	0.0	1.16E-4	ENSG00000184697	ENST00000396925;ENST00000328796	D;D	0.89343	-2.5;-2.5	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.96833	0.8966	H	0.98901	4.365	0.54753	D	0.999989	D	0.89917	1.0	D	0.79784	0.993	D	0.98096	1.0412	10	0.87932	D	0	.	15.6364	0.76958	0.0:0.0:1.0:0.0	.	140	P56747	CLD6_HUMAN	V	140	ENSP00000380131:A140V;ENSP00000328674:A140V	ENSP00000328674:A140V	A	-	2	0	CLDN6	3005605	1.000000	0.71417	0.889000	0.34880	0.048000	0.14542	9.657000	0.98554	2.638000	0.89438	0.655000	0.94253	GCG		0.622	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1	NM_021195	
SCNN1B	6338	broad.mit.edu	37	16	23360038	23360038	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:23360038C>T	ENST00000343070.2	+	2	294	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000568923.1_Missense_Mutation_p.R40C|SCNN1B_ENST00000307331.5_Missense_Mutation_p.R85C|SCNN1B_ENST00000568085.1_Missense_Mutation_p.R40C	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	40					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CGGCCCCAAGCGCATCATCTG	0.622																																						uc002dln.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(118-120)Cgc>Tgc		Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	Amiloride(DB00594)|Triamterene(DB00384)						71.0	62.0	65.0					16																	23360038		2197	4300	6497	SO:0001583	missense	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23360038C>T	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.118C>T	16.37:g.23360038C>T	ENSP00000345751:p.Arg40Cys						p.R40C	NM_000336	NP_000327	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	1	294	+			40					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	c.118C>T	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499684	0.85176	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.65178	-0.14;-0.14	4.91	4.91	0.64330	.	0.077952	0.53938	D	0.000041	D	0.82527	0.5056	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86546	0.1831	10	0.87932	D	0	-7.2594	17.0902	0.86620	0.0:1.0:0.0:0.0	.	40	P51168	SCNNB_HUMAN	C	40;85	ENSP00000345751:R40C;ENSP00000302874:R85C	ENSP00000302874:R85C	R	+	1	0	SCNN1B	23267539	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.745000	0.68672	2.258000	0.74832	0.561000	0.74099	CGC		0.622	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2		
ITGAD	3681	broad.mit.edu	37	16	31422517	31422517	+	Missense_Mutation	SNP	G	G	A	rs147338780	byFrequency	TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:31422517G>A	ENST00000389202.2	+	13	1526	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	493					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCAGGTGTCCGTGTGTCCCTT	0.632													g|||	2	0.000399361	0.0008	0.0	5008	,	,		15581	0.001		0.0	False		,,,				2504	0.0					uc010cap.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1477-1479)Gtg>Atg		Homo sapiens integrin, alpha D (ITGAD), mRNA.		G	MET/VAL	0,4394		0,0,2197	81.0	79.0	79.0		1477	1.2	0.6	16	dbSNP_134	79	4,8596	3.7+/-12.6	0,4,4296	yes	missense	ITGAD	NM_005353.2	21	0,4,6493	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	493/1162	31422517	4,12990	2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422517G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1477G>A	16.37:g.31422517G>A	ENSP00000373854:p.Val493Met					ITGAD_uc002ebv.1_Missense_Mutation_p.V493M	p.V493M	NM_005353	NP_005344	Q13349	ITAD_HUMAN			12	1526	+			493					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.1477G>A	CCDS32438.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	11.39	1.623588	0.28889	0.0	4.65E-4	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.75589	-0.95	4.69	1.18	0.20946	.	.	.	.	.	T	0.76758	0.4032	M	0.84082	2.675	0.26190	N	0.979604	D;D	0.69078	0.997;0.997	P;P	0.49192	0.602;0.602	T	0.67452	-0.5667	9	0.62326	D	0.03	.	5.3745	0.16158	0.214:0.1742:0.6117:0.0	.	509;493	Q59H14;Q13349	.;ITAD_HUMAN	M	509;493	ENSP00000373854:V493M	ENSP00000373854:V493M	V	+	1	0	ITGAD	31330018	0.886000	0.30341	0.620000	0.29132	0.141000	0.21300	1.101000	0.31037	0.953000	0.37825	0.401000	0.26515	GTG		0.632	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	
WDR59	79726	broad.mit.edu	37	16	74976699	74976699	+	Missense_Mutation	SNP	A	A	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:74976699A>T	ENST00000262144.6	-	7	601	c.471T>A	c.(469-471)aaT>aaA	p.N157K		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	157										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CATTTTTTTTATTCCATTTGA	0.502																																						uc002fdh.1																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(469-471)aaT>aaA		Homo sapiens WD repeat domain 59 (WDR59), mRNA.							79.0	72.0	74.0					16																	74976699		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74976699A>T	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.471T>A	16.37:g.74976699A>T	ENSP00000262144:p.Asn157Lys					WDR59_uc002fdi.3_Missense_Mutation_p.N157K|WDR59_uc021tli.1_Missense_Mutation_p.N136K	p.N157K	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN			6	573	-			157					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.471T>A	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.451750	0.84209	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.72051	-0.62	5.96	2.49	0.30216	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.042802	0.85682	D	0.000000	T	0.70193	0.3196	M	0.87758	2.905	0.80722	D	1	B;P	0.37525	0.286;0.598	B;B	0.34824	0.169;0.19	T	0.71094	-0.4692	10	0.87932	D	0	-23.1081	8.6937	0.34282	0.6021:0.0:0.3979:0.0	.	157;157	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	K	157;136	ENSP00000262144:N157K	ENSP00000262144:N157K	N	-	3	2	WDR59	73534200	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.230000	0.51286	0.515000	0.28320	0.533000	0.62120	AAT		0.502	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581	
KCNG4	93107	broad.mit.edu	37	16	84270708	84270708	+	Silent	SNP	C	C	T	rs369629967		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:84270708C>T	ENST00000308251.4	-	2	452	c.384G>A	c.(382-384)gcG>gcA	p.A128A	KCNG4_ENST00000568181.1_Silent_p.A128A	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	128					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GCTTCCCGGCCGCCAGGAAGC	0.637																																						uc010voc.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(382-384)gcG>gcA		Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.		C		0,4400		0,0,2200	47.0	50.0	49.0		384	-2.1	1.0	16		49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCNG4	NM_172347.2		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		128/520	84270708	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270708C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.384G>A	16.37:g.84270708C>T						KCNG4_uc002fhu.1_Silent_p.A128A	p.A128A	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN			1	505	-			128					Q96H24	Silent	SNP	ENST00000308251.4	37	c.384G>A	CCDS10945.1																																																																																				0.637	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347	
TP53	7157	broad.mit.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr17:7578203C>T	ENST00000269305.4	-	6	835	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_ENST00000359597.4_Missense_Mutation_p.V216M|TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.V216M|TP53_ENST00000455263.2_Missense_Mutation_p.V216M|TP53_ENST00000445888.2_Missense_Mutation_p.V216M	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	216	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(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)	GGCACCACCACACTATGTCGA	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"""		113	Substitution - Missense(74)|Deletion - In frame(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Complex - deletion inframe(2)|Insertion - In frame(1)	p.V216M(117)|p.S215R(17)|p.V216del(16)|p.S215I(16)|p.V216L(15)|p.0?(8)|p.S215N(7)|p.V216G(6)|p.S215G(6)|p.S215C(5)|p.?(5)|p.V216E(5)|p.V216fs*6(4)|p.S215fs*32(4)|p.V216A(3)|p.S215T(3)|p.V84M(3)|p.V123M(3)|p.V216fs*32(2)|p.V216fs*33(2)|p.S215fs*27(2)|p.S215fs*29(2)|p.V216fs*5(2)|p.S215S(2)|p.V216_Y220delVVVPY(2)|p.D208_V216delDRNTFRHSV(2)|p.S215fs*31(2)|p.V216fs*31(2)|p.S215_V216insX(2)|p.D207_V216del10(2)|p.H214fs*5(2)|p.S215_V218>R(2)|p.S215_V218>M(2)|p.K164_P219del(1)|p.S215del(1)|p.H214_S215insX(1)|p.T211_S215delTFRHS(1)|p.S215_V218>RR(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.T211fs*28(1)|p.R213_S215>X(1)	breast(17)|lung(14)|haematopoietic_and_lymphoid_tissue(12)|ovary(12)|upper_aerodigestive_tract(10)|large_intestine(9)|oesophagus(9)|biliary_tract(5)|central_nervous_system(5)|bone(5)|stomach(4)|liver(4)|pancreas(3)|soft_tissue(2)|urinary_tract(1)|skin(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	CX952222	TP53	X		c.(646-648)Gtg>Atg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							123.0	111.0	115.0					17																	7578203		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.chr17:7578203C>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.646G>A	17.37:g.7578203C>T	ENSP00000269305:p.Val216Met	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_Missense_Mutation_p.V216M|TP53_uc002gih.3_Missense_Mutation_p.V216M|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V84M|TP53_uc010cnf.1_Missense_Mutation_p.V84M|TP53_uc002gii.1_Missense_Mutation_p.V84M|TP53_uc010cni.1_Missense_Mutation_p.V216M|TP53_uc010cnh.1_Missense_Mutation_p.V216M|TP53_uc002gij.2_Missense_Mutation_p.V216M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123M|TP53_uc002gio.2_Missense_Mutation_p.V84M|TP53_uc010vug.2_Missense_Mutation_p.V177M|DL476358_uc021tph.1_5'Flank	p.V216M	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	840	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	216		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	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	Missense_Mutation	SNP	ENST00000269305.4	37	c.646G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958421	0.92726	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.28	5.28	0.74379	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	0.99889	0.9947	M	0.92169	3.28	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.996;1.0;1.0;1.0;1.0	D	0.96411	0.9304	10	0.87932	D	0	-12.2832	16.7921	0.85592	0.0:1.0:0.0:0.0	.	177;216;216;123;216;216;216	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	216;216;216;216;216;216;205;123;84;123;84	ENSP00000410739:V216M;ENSP00000352610:V216M;ENSP00000269305:V216M;ENSP00000398846:V216M;ENSP00000391127:V216M;ENSP00000391478:V216M;ENSP00000425104:V84M;ENSP00000423862:V123M	ENSP00000269305:V216M	V	-	1	0	TP53	7518928	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GTG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MGAT5B	146664	broad.mit.edu	37	17	74936837	74936837	+	Silent	SNP	G	G	A	rs187745988		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr17:74936837G>A	ENST00000569840.2	+	15	2329	c.1755G>A	c.(1753-1755)gcG>gcA	p.A585A	MGAT5B_ENST00000301618.4_Silent_p.A583A|MGAT5B_ENST00000428789.2_Silent_p.A594A	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	585					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCCCTACGCGGAGAACTTCA	0.552													g|||	1	0.000199681	0.0008	0.0	5008	,	,		18933	0.0		0.0	False		,,,				2504	0.0					uc002jti.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1780-1782)gcG>gcA		Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.							87.0	78.0	81.0					17																	74936837		2203	4300	6503	SO:0001819	synonymous_variant	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74936837G>A	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1755G>A	17.37:g.74936837G>A						MGAT5B_uc002jth.3_Silent_p.A583A	p.A594A	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN			12	1885	+			585					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Silent	SNP	ENST00000569840.2	37	c.1782G>A	CCDS59299.1																																																																																				0.552	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677	
ACP7	390928	broad.mit.edu	37	19	39597641	39597641	+	Missense_Mutation	SNP	G	G	A	rs546523874		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr19:39597641G>A	ENST00000331256.5	+	12	1442	c.1168G>A	c.(1168-1170)Gtg>Atg	p.V390M	PAPL_ENST00000594229.1_Intron	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		390						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										CTGGAGTGCCGTGCGTGTGAA	0.652																																						uc002oki.3																			0											c.(1168-1170)Gtg>Atg		Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.							81.0	61.0	68.0					19																	39597641		2203	4300	6503	SO:0001583	missense	390928					extracellular region	acid phosphatase activity|metal ion binding	g.chr19:39597641G>A																												ENST00000331256.5:c.1168G>A	19.37:g.39597641G>A	ENSP00000327557:p.Val390Met					PAPL_uc010egl.3_Intron	p.V390M	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN			11	1442	+			390					B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	c.1168G>A	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	g	11.23	1.576575	0.28092	.	.	ENSG00000183760	ENST00000331256	.	.	.	4.65	-9.3	0.00649	.	0.651370	0.15402	N	0.264266	T	0.24044	0.0582	L	0.39898	1.24	0.09310	N	0.999997	B	0.33318	0.408	B	0.31390	0.129	T	0.08411	-1.0723	9	0.66056	D	0.02	-3.9476	8.3486	0.32288	0.1307:0.586:0.1159:0.1674	.	390	Q6ZNF0	PAPL_HUMAN	M	390	.	ENSP00000327557:V390M	V	+	1	0	AC011443.1	44289481	0.000000	0.05858	0.005000	0.12908	0.426000	0.31534	-1.979000	0.01493	-1.724000	0.01373	0.543000	0.68304	GTG		0.652	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1		
PSG1	5669	broad.mit.edu	37	19	43376198	43376198	+	Splice_Site	SNP	C	C	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr19:43376198C>A	ENST00000436291.2	-	3	547		c.e3-1		PSG1_ENST00000244296.2_Splice_Site|PSG1_ENST00000595356.1_Splice_Site|PSG1_ENST00000312439.6_Splice_Site|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595124.1_Intron	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1						female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GGAGTCTCCACTGTGCAGAAA	0.527																																						uc002ovd.1																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.e3-1		Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.							129.0	123.0	125.0					19																	43376198		2201	4299	6500	SO:0001630	splice_region_variant	5669				defense response|female pregnancy	extracellular region		g.chr19:43376198C>A		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.431-1G>T	19.37:g.43376198C>A						PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Splice_Site_p.L144_splice|PSG3_uc002oun.3_Splice_Site|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Splice_Site_p.L144_splice|PSG3_uc002ovb.3_Splice_Site_p.L144_splice	p.L144_splice	NM_006905	NP_008836	Q16557	PSG3_HUMAN			3	569	-		Prostate(69;0.00682)	144			Ig-like V-type.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Splice_Site	SNP	ENST00000436291.2	37	c.431_splice	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	c	6.120	0.390434	0.11581	.	.	ENSG00000231924	ENST00000436291;ENST00000312439;ENST00000244296	.	.	.	1.46	1.46	0.22682	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2767	0.20985	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PSG1	48068038	0.690000	0.27699	0.152000	0.22495	0.059000	0.15707	1.738000	0.38207	0.782000	0.33613	0.184000	0.17185	.		0.527	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1		Intron
ZNF534	147658	broad.mit.edu	37	19	52942411	52942411	+	Silent	SNP	G	G	A	rs113700997	byFrequency	TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr19:52942411G>A	ENST00000332323.6	+	4	1798	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Silent_p.A566A	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	579					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)	p.A579A(4)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACACCTTGCGCGACATAGGA	0.443																																						uc002pzk.3																			4	Substitution - coding silent(4)	p.A579A(4)	kidney(4)	central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						c.(1735-1737)gcG>gcA		Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.							63.0	62.0	62.0					19																	52942411		692	1591	2283	SO:0001819	synonymous_variant	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52942411G>A	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1737G>A	19.37:g.52942411G>A						ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.A566A	p.A579A	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			3	1804	+			579					Q76KX9	Silent	SNP	ENST00000332323.6	37	c.1737G>A	CCDS46165.1																																																																																				0.443	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512	
IL1RN	3557	broad.mit.edu	37	2	113890330	113890330	+	Missense_Mutation	SNP	C	C	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr2:113890330C>A	ENST00000409930.3	+	4	480	c.416C>A	c.(415-417)gCc>gAc	p.A139D	IL1RN_ENST00000361779.3_Missense_Mutation_p.A105D|IL1RN_ENST00000409052.1_Missense_Mutation_p.A105D|IL1RN_ENST00000259206.5_Missense_Mutation_p.A142D|IL1RN_ENST00000354115.2_Missense_Mutation_p.A121D	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	139					acute-phase response (GO:0006953)|carboxylic acid metabolic process (GO:0019752)|chronic inflammatory response to antigenic stimulus (GO:0002439)|female pregnancy (GO:0007565)|fever generation (GO:0001660)|immune response (GO:0006955)|insulin secretion (GO:0030073)|lipid metabolic process (GO:0006629)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of membrane potential (GO:0045837)|positive regulation of JUN kinase activity (GO:0043507)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	interleukin-1 receptor antagonist activity (GO:0005152)|interleukin-1 receptor binding (GO:0005149)|interleukin-1 Type I receptor antagonist activity (GO:0045352)|interleukin-1 Type II receptor antagonist activity (GO:0045353)|interleukin-1, Type I receptor binding (GO:0005150)|interleukin-1, Type II receptor binding (GO:0005151)			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Rilonacept(DB06372)	TTTGAGTCTGCCGCCTGCCCC	0.572									Lichen Sclerosis et Atrophicus, Familial Clustering of																													uc002tjb.3																			0				breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10						c.(415-417)gCc>gAc		Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	Anakinra(DB00026)						97.0	98.0	97.0					2																	113890330		2203	4300	6503	SO:0001583	missense	3557	Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Lichen Sclerosis, Familial	immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113890330C>A	M55646	CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1	2q14.2	2014-09-17			ENSG00000136689	ENSG00000136689		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	6000	protein-coding gene	gene with protein product	"""interleukin-1 receptor antagonist protein"", ""intracellular interleukin-1 receptor antagonist"""	147679				1386337, 8432529	Standard	NM_000577		Approved	IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430	uc002tjb.3	P18510	OTTHUMG00000131341	ENST00000409930.3:c.416C>A	2.37:g.113890330C>A	ENSP00000387173:p.Ala139Asp					IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Missense_Mutation_p.A142D|IL1RN_uc002tiy.3_Missense_Mutation_p.A105D|IL1RN_uc002tja.3_Missense_Mutation_p.A121D	p.A139D	NM_173842	NP_776215	P18510	IL1RA_HUMAN			3	480	+			139					A8K4G1|Q14628|Q53SC2|Q7RTZ4|Q96GD6|Q9UPC0	Missense_Mutation	SNP	ENST00000409930.3	37	c.416C>A	CCDS46396.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360769	0.41801	.	.	ENSG00000136689	ENST00000409052;ENST00000361779;ENST00000259206;ENST00000354115;ENST00000409930	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	5.8	1.93	0.25924	Interleukin-1 conserved site (1);	0.385977	0.31438	N	0.007644	T	0.44912	0.1316	M	0.91768	3.24	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.31724	-0.9933	10	0.87932	D	0	-24.6594	8.3633	0.32372	0.0:0.6717:0.0:0.3283	.	139;121;142	P18510;P18510-2;Q53SC2	IL1RA_HUMAN;.;.	D	105;105;142;121;139	ENSP00000387210:A105D;ENSP00000354816:A105D;ENSP00000259206:A142D;ENSP00000329072:A121D;ENSP00000387173:A139D	ENSP00000259206:A142D	A	+	2	0	IL1RN	113606801	0.001000	0.12720	0.003000	0.11579	0.185000	0.23345	0.008000	0.13197	0.361000	0.24292	0.655000	0.94253	GCC		0.572	IL1RN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330802.1	NM_173841	
PPIG	9360	broad.mit.edu	37	2	170494029	170494029	+	Missense_Mutation	SNP	G	G	C			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr2:170494029G>C	ENST00000260970.3	+	14	2481	c.2261G>C	c.(2260-2262)gGa>gCa	p.G754A	PPIG_ENST00000409714.3_Missense_Mutation_p.G739A|PPIG_ENST00000448752.2_Missense_Mutation_p.G754A	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	754					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GACAAAAGCGGATGAGTGAGT	0.313																																						uc002uez.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(2260-2262)gGa>gCa		Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	L-Proline(DB00172)						31.0	34.0	33.0					2																	170494029		2003	3786	5789	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170494029G>C	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.2261G>C	2.37:g.170494029G>C	ENSP00000260970:p.Gly754Ala					PPIG_uc010fpx.3_Missense_Mutation_p.G739A|PPIG_uc010fpy.3_Missense_Mutation_p.G747A|PPIG_uc002ufb.3_Missense_Mutation_p.G754A|PPIG_uc002ufd.3_Missense_Mutation_p.G751A	p.G754A	NM_004792	NP_004783	Q13427	PPIG_HUMAN			13	2481	+			754					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.2261G>C	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832089	0.50845	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.21191	2.04;2.02;2.04	6.08	6.08	0.98989	.	0.000000	0.56097	D	0.000024	T	0.34658	0.0905	N	0.19112	0.55	0.37876	D	0.930219	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.995;0.995;0.995	T	0.22103	-1.0226	10	0.87932	D	0	.	18.8526	0.92238	0.0:0.0:1.0:0.0	.	739;739;754	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	A	754;739;754	ENSP00000260970:G754A;ENSP00000386245:G739A;ENSP00000407083:G754A	ENSP00000260970:G754A	G	+	2	0	PPIG	170202275	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	4.712000	0.61888	2.894000	0.99253	0.591000	0.81541	GGA		0.313	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2		
TTN	7273	broad.mit.edu	37	2	179412263	179412263	+	Missense_Mutation	SNP	T	T	C			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr2:179412263T>C	ENST00000591111.1	-	289	89391	c.89167A>G	c.(89167-89169)Aag>Gag	p.K29723E	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K22299E|TTN_ENST00000589042.1_Missense_Mutation_p.K31364E|TTN_ENST00000359218.5_Missense_Mutation_p.K22424E|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K28796E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K22491E|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29723	Fibronectin type-III 116. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGTGCGCTTGACACTGGAA	0.413																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(86386-86388)Aag>Gag		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							78.0	77.0	77.0					2																	179412263		1899	4118	6017	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412263T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89167A>G	2.37:g.179412263T>C	ENSP00000465570:p.Lys29723Glu					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K22491E|TTN_uc021vta.1_Missense_Mutation_p.K22424E|TTN_uc021vtb.1_Missense_Mutation_p.K22299E	p.K28796E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		287	86611	-			29723			Fibronectin type-III 110.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.86386A>G		.	.	.	.	.	.	.	.	.	.	T	17.54	3.414825	0.62511	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.92	5.92	0.95590	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68449	0.3002	L	0.49350	1.555	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.70868	-0.4755	9	0.87932	D	0	.	16.3526	0.83220	0.0:0.0:0.0:1.0	.	22299;22424;22491;29723	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	28796;22299;22491;22424;22296	ENSP00000343764:K28796E;ENSP00000434586:K22299E;ENSP00000340554:K22491E;ENSP00000352154:K22424E	ENSP00000340554:K22491E	K	-	1	0	TTN	179120509	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.242000	0.72376	2.255000	0.74692	0.533000	0.62120	AAG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
COL6A3	1293	broad.mit.edu	37	2	238275663	238275663	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr2:238275663G>A	ENST00000295550.4	-	11	5619	c.5167C>T	c.(5167-5169)Ctt>Ttt	p.L1723F	COL6A3_ENST00000409809.1_Missense_Mutation_p.L1517F|COL6A3_ENST00000472056.1_Missense_Mutation_p.L1116F|COL6A3_ENST00000347401.3_Missense_Mutation_p.L1522F|COL6A3_ENST00000353578.4_Missense_Mutation_p.L1517F|COL6A3_ENST00000346358.4_Missense_Mutation_p.L1523F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1723	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L1723I(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGTGCTCAAGGCCCACCTTA	0.547																																						uc002vwl.2																			1	Substitution - Missense(1)	p.L1723I(2)	lung(1)	breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5167-5169)Ctt>Ttt		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							88.0	74.0	79.0					2																	238275663		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275663G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5167C>T	2.37:g.238275663G>A	ENSP00000295550:p.Leu1723Phe					COL6A3_uc002vwo.2_Missense_Mutation_p.L1517F|COL6A3_uc010znj.1_Missense_Mutation_p.L1116F	p.L1723F	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	5452	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1723			Nonhelical region.|VWFA 9.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5167C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	9.170	1.020955	0.19433	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.56	-11.1	0.00147	von Willebrand factor, type A (3);	0.384550	0.21216	N	0.078240	D	0.91405	0.7288	M	0.79926	2.475	0.23082	N	0.998324	D;D;P	0.71674	0.998;0.991;0.782	D;P;B	0.70935	0.971;0.908;0.42	D	0.90520	0.4488	10	0.72032	D	0.01	.	21.1142	0.99946	0.0:0.0614:0.0909:0.8477	.	1116;1517;1723	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	F	1723;1522;1517;1116;1517;1523	ENSP00000295550:L1723F;ENSP00000315609:L1522F;ENSP00000315873:L1517F;ENSP00000418285:L1116F;ENSP00000386844:L1517F;ENSP00000295546:L1523F	ENSP00000295550:L1723F	L	-	1	0	COL6A3	237940402	0.369000	0.25039	0.005000	0.12908	0.088000	0.18126	-0.424000	0.07025	-2.547000	0.00482	-1.036000	0.02392	CTT		0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
BTBD3	22903	broad.mit.edu	37	20	11900455	11900455	+	Silent	SNP	C	C	G	rs368759423		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr20:11900455C>G	ENST00000405977.1	+	4	1132	c.507C>G	c.(505-507)gtC>gtG	p.V169V	RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000378226.2_Silent_p.V169V|BTBD3_ENST00000254977.3_Silent_p.V108V|BTBD3_ENST00000399006.2_Silent_p.V108V|BTBD3_ENST00000488503.1_3'UTR	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	169	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						TACCAGATGTCGAACCTGCTG	0.418																																						uc002wnz.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						c.(505-507)gtC>gtG		Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.							144.0	133.0	137.0					20																	11900455		2203	4300	6503	SO:0001819	synonymous_variant	22903							g.chr20:11900455C>G	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.507C>G	20.37:g.11900455C>G						BTBD3_uc002wny.3_Silent_p.V108V|BTBD3_uc002woa.3_Silent_p.V108V|BTBD3_uc010zrf.2_Silent_p.V18V|BTBD3_uc010zrg.2_Silent_p.V18V|BTBD3_uc010zrh.2_Silent_p.V18V	p.V169V	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN			2	866	+			169			BTB.		D3DW19|Q5JY73	Silent	SNP	ENST00000405977.1	37	c.507C>G	CCDS13113.1																																																																																				0.418	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3		
DEFB118	117285	broad.mit.edu	37	20	29960755	29960755	+	Nonsense_Mutation	SNP	C	C	T	rs34328728		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr20:29960755C>T	ENST00000253381.2	+	2	187	c.154C>T	c.(154-156)Cga>Tga	p.R52*		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	52					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CAAAAATCTTCGAGCTTGCTG	0.438																																						uc002wvr.3																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14						c.(154-156)Cga>Tga		Homo sapiens defensin, beta 118 (DEFB118), mRNA.							135.0	121.0	126.0					20																	29960755		2203	4300	6503	SO:0001587	stop_gained	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29960755C>T	AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.154C>T	20.37:g.29960755C>T	ENSP00000253381:p.Arg52*						p.R52*	NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		1	187	+	all_hematologic(12;0.158)		52					Q17RC4|Q8N691|Q9NUH0	Nonsense_Mutation	SNP	ENST00000253381.2	37	c.154C>T	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926972	0.34002	.	.	ENSG00000131068	ENST00000253381	.	.	.	3.82	1.75	0.24633	.	0.991602	0.08169	N	0.987287	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-4.047	6.7047	0.23244	0.2015:0.6033:0.1952:0.0	.	.	.	.	X	52	.	ENSP00000253381:R52X	R	+	1	2	DEFB118	29424416	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.004000	0.12878	0.516000	0.28340	0.655000	0.94253	CGA		0.438	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112	
ASXL1	171023	broad.mit.edu	37	20	31022345	31022345	+	Silent	SNP	C	C	T	rs199829982		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr20:31022345C>T	ENST00000375687.4	+	13	2254	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	ASXL1_ENST00000306058.5_Silent_p.G605G	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	610	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.Q592fs*5(1)|p.G610G(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTTGGACTGGCGCCAGGACCC	0.632			"""F, N, Mis"""		"""MDS, CMML"""																																	uc021wbw.1				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		2	Deletion - Frameshift(1)|Substitution - coding silent(1)	p.G610G(2)|p.Q592fs*5(1)|p.(574_1542)fs*?(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(1828-1830)ggC>ggT		Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.		C		1,4405		0,1,2202	29.0	31.0	30.0		1830	-10.8	0.5	20		30	1,8599		0,1,4299	no	coding-synonymous	ASXL1	NM_015338.5		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		610/1542	31022345	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022345C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1830C>T	20.37:g.31022345C>T						ASXL1_uc002wxs.3_Silent_p.G609G|ASXL1_uc010geb.3_Silent_p.G501G	p.G610G	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	2262	+			610					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.1830C>T	CCDS13201.1																																																																																				0.632	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338	
DLGAP4	22839	broad.mit.edu	37	20	35075140	35075140	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr20:35075140G>A	ENST00000373907.2	+	6	1647	c.1448G>A	c.(1447-1449)tGc>tAc	p.C483Y	DLGAP4_ENST00000401952.2_Missense_Mutation_p.C483Y|DLGAP4_ENST00000339266.5_Missense_Mutation_p.C483Y|DLGAP4_ENST00000373913.3_Missense_Mutation_p.C483Y			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	483					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GAGGCGGCCTGCGAGTCAGCC	0.647																																						uc002xff.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(1447-1449)tGc>tAc		Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.							44.0	33.0	37.0					20																	35075140		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35075140G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.1448G>A	20.37:g.35075140G>A	ENSP00000363014:p.Cys483Tyr					DLGAP4_uc010zvp.2_Missense_Mutation_p.C483Y	p.C483Y	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			6	1883	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	483					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.1448G>A		.	.	.	.	.	.	.	.	.	.	G	19.07	3.756257	0.69648	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71	5.43	5.43	0.79202	.	0.194392	0.56097	D	0.000025	D	0.95092	0.8410	M	0.78049	2.395	0.48830	D	0.999713	D	0.71674	0.998	D	0.65443	0.935	D	0.95332	0.8430	10	0.87932	D	0	.	18.5789	0.91164	0.0:0.0:1.0:0.0	.	483	Q9Y2H0-1	.	Y	483	ENSP00000363023:C483Y;ENSP00000384954:C483Y;ENSP00000363014:C483Y;ENSP00000341633:C483Y	ENSP00000341633:C483Y	C	+	2	0	DLGAP4	34508554	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	6.569000	0.73992	2.702000	0.92279	0.511000	0.50034	TGC		0.647	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902	
KRTAP19-3	337970	broad.mit.edu	37	21	31864264	31864264	+	Silent	SNP	G	G	A	rs376412934		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr21:31864264G>A	ENST00000334063.4	-	1	11	c.12C>T	c.(10-12)taC>taT	p.Y4Y		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	4						intermediate filament (GO:0005882)				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						AGTAGCTGCCGTAGTAGCTCA	0.547																																						uc002yog.1																			0				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						c.(10-12)taC>taT		Homo sapiens keratin associated protein 19-3 (KRTAP19-3), mRNA.							140.0	128.0	132.0					21																	31864264		2203	4300	6503	SO:0001819	synonymous_variant	337970					intermediate filament		g.chr21:31864264G>A	AP001708	CCDS13596.1	21q22.1	2011-02-10			ENSG00000244025	ENSG00000244025		"""Keratin associated proteins"""	18938	protein-coding gene	gene with protein product						12359730	Standard	NM_181609		Approved	KAP19.3	uc002yog.1	Q7Z4W3	OTTHUMG00000057782	ENST00000334063.4:c.12C>T	21.37:g.31864264G>A							p.Y4Y	NM_181609	NP_853640	Q7Z4W3	KR193_HUMAN			0	12	-			4						Silent	SNP	ENST00000334063.4	37	c.12C>T	CCDS13596.1																																																																																				0.547	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128234.2		
TPST2	8459	broad.mit.edu	37	22	26937269	26937269	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr22:26937269G>A	ENST00000338754.4	-	3	598	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	TPST2_ENST00000403880.1_Missense_Mutation_p.R110C|TPST2_ENST00000398110.2_Missense_Mutation_p.R110C	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	110					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CAGGCCTGGCGCATGGCCAGC	0.697																																						uc003acw.3																			0				central_nervous_system(1)|large_intestine(1)|lung(5)	7						c.(328-330)Cgc>Tgc		Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.							27.0	25.0	26.0					22																	26937269		2202	4298	6500	SO:0001583	missense	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26937269G>A	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.328C>T	22.37:g.26937269G>A	ENSP00000339813:p.Arg110Cys					TPST2_uc003acx.3_Missense_Mutation_p.R110C|TPST2_uc011akf.1_Missense_Mutation_p.R110C	p.R110C	NM_001008566	NP_003586	O60704	TPST2_HUMAN			2	669	-			110					B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	ENST00000338754.4	37	c.328C>T	CCDS13839.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682371	0.47991	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868;ENST00000442495;ENST00000454778	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.09	4.08	0.47627	Sulfotransferase domain (1);	0.078282	0.53938	D	0.000044	T	0.70133	0.3189	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74873	-0.3516	10	0.66056	D	0.02	-29.5816	12.6001	0.56492	0.0803:0.0:0.9197:0.0	.	110	O60704	TPST2_HUMAN	C	110;110;110;43;110;110	ENSP00000339813:R110C;ENSP00000381180:R110C;ENSP00000385192:R110C;ENSP00000403875:R110C;ENSP00000400357:R110C	ENSP00000339813:R110C	R	-	1	0	TPST2	25267269	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	3.750000	0.55157	1.162000	0.42619	-0.192000	0.12808	CGC		0.697	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595	
ITPR1	3708	broad.mit.edu	37	3	4816936	4816936	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr3:4816936G>A	ENST00000443694.2	+	44	5945	c.5945G>A	c.(5944-5946)cGt>cAt	p.R1982H	ITPR1_ENST00000423119.2_Missense_Mutation_p.R1949H|ITPR1_ENST00000357086.4_Missense_Mutation_p.R1949H|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.R1982H|ITPR1_ENST00000302640.8_Missense_Mutation_p.R1982H|ITPR1_ENST00000456211.2_Missense_Mutation_p.R1934H			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1997					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AACTTCCTCCGTTGCCAAAAT	0.483																																						uc003bqc.3																			0		p.L1982L(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(5944-5946)cGt>cAt		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.							147.0	144.0	145.0					3																	4816936		1925	4145	6070	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4816936G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5945G>A	3.37:g.4816936G>A	ENSP00000401671:p.Arg1982His					ITPR1_uc021wsi.1_Missense_Mutation_p.R1949H|ITPR1_uc021wsj.1_Missense_Mutation_p.R1934H|ITPR1_uc011asu.2_Intron	p.R1982H	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	45	6295	+			1997					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.5945G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	34	5.399431	0.96030	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12;-4.12;-4.12	5.04	5.04	0.67666	RyR/IP3R Homology associated domain (1);	0.000000	0.85682	D	0.000000	D	0.98391	0.9465	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99198	1.0872	10	0.59425	D	0.04	.	18.4209	0.90590	0.0:0.0:1.0:0.0	.	1997;1949	Q14643;G5E9P1	ITPR1_HUMAN;.	H	1997;1982;1982;1949;443;1949;1934;1982	ENSP00000306253:R1982H;ENSP00000346595:R1982H;ENSP00000405934:R1949H;ENSP00000349597:R1949H;ENSP00000397885:R1934H;ENSP00000401671:R1982H	ENSP00000306253:R1982H	R	+	2	0	ITPR1	4791936	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	9.787000	0.99055	2.349000	0.79799	0.655000	0.94253	CGT		0.483	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
FGD5	152273	broad.mit.edu	37	3	14905722	14905722	+	Silent	SNP	G	G	A	rs267599640|rs549156584	byFrequency	TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr3:14905722G>A	ENST00000285046.5	+	2	2723	c.2613G>A	c.(2611-2613)tcG>tcA	p.S871S	FGD5_ENST00000543601.1_Silent_p.S630S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	871					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGAGAAGCTCGGAGGAGGAGG	0.597																																						uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(2611-2613)tcG>tcA		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							91.0	96.0	94.0					3																	14905722		2027	4172	6199	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14905722G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2613G>A	3.37:g.14905722G>A						FGD5_uc011avk.2_Silent_p.S871S	p.S871S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			1	2723	+			871					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.2613G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	4.379	0.069860	0.08436	.	.	ENSG00000154783	ENST00000457774	.	.	.	4.37	-8.75	0.00834	.	.	.	.	.	T	0.33876	0.0878	.	.	.	0.54753	D	0.99998	.	.	.	.	.	.	T	0.38757	-0.9646	4	.	.	.	-11.4298	2.0627	0.03596	0.4185:0.0816:0.2677:0.2322	.	.	.	.	R	85	.	.	G	+	1	0	FGD5	14880726	0.000000	0.05858	0.124000	0.21820	0.572000	0.35998	-2.662000	0.00850	-2.383000	0.00592	-1.314000	0.01303	GGA		0.597	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
CTBP1	1487	broad.mit.edu	37	4	1209830	1209830	+	Silent	SNP	G	G	A	rs374344295		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:1209830G>A	ENST00000290921.6	-	5	892	c.711C>T	c.(709-711)tgC>tgT	p.C237C	CTBP1_ENST00000382952.3_Silent_p.C226C	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	237					Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		CGTTGAGGCCGCAGTGCAGGG	0.637																																						uc003gcw.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8						c.(709-711)tgC>tgT		Homo sapiens C-terminal binding protein 1 (CTBP1), transcript variant 1, mRNA.		G	,	1,4401	2.1+/-5.4	0,1,2200	115.0	94.0	101.0		678,711	3.8	1.0	4		101	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	CTBP1	NM_001012614.1,NM_001328.2	,	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	,	226/430,237/441	1209830	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	1487				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	g.chr4:1209830G>A	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.711C>T	4.37:g.1209830G>A						AX747592_uc003gcs.1_Non-coding_Transcript|CTBP1_uc003gcu.1_Silent_p.C226C|CTBP1_uc003gcv.1_Silent_p.C237C	p.C237C	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	4	876	-			237					Q4W5N3|Q7Z2Q5	Silent	SNP	ENST00000290921.6	37	c.711C>T	CCDS3348.1	.	.	.	.	.	.	.	.	.	.	G	4.680	0.126494	0.08931	2.27E-4	0.0	ENSG00000159692	ENST00000504092	.	.	.	4.62	3.76	0.43208	.	.	.	.	.	T	0.69269	0.3092	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67772	-0.5584	4	.	.	.	-20.8454	13.929	0.63981	0.0:0.0:0.8466:0.1534	.	.	.	.	W	84	.	.	R	-	1	2	CTBP1	1199830	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	3.001000	0.49488	0.901000	0.36495	0.561000	0.74099	CGG		0.637	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328	
HGFAC	3083	broad.mit.edu	37	4	3449235	3449235	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:3449235G>A	ENST00000382774.3	+	11	1487	c.1372G>A	c.(1372-1374)Gtc>Atc	p.V458I	HGFAC_ENST00000511533.1_Missense_Mutation_p.V465I	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	458	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAGGGACAGCGTCTCCGTGGT	0.667																																						uc003ghc.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(1372-1374)Gtc>Atc		Homo sapiens HGF activator (HGFAC), mRNA.							95.0	86.0	89.0					4																	3449235		2203	4300	6503	SO:0001583	missense	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3449235G>A	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1372G>A	4.37:g.3449235G>A	ENSP00000372224:p.Val458Ile					HGFAC_uc010icw.3_Missense_Mutation_p.V465I	p.V458I	NM_001528	NP_001519	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	10	1375	+			458			Peptidase S1.		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	c.1372G>A	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	G	0.041	-1.285812	0.01387	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.89050	-2.46;-2.46	3.58	1.77	0.24775	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.272209	0.29522	N	0.011904	T	0.71953	0.3401	N	0.10733	0.035	0.09310	N	1	B;B	0.13594	0.008;0.003	B;B	0.10450	0.005;0.004	T	0.56372	-0.7990	10	0.16420	T	0.52	.	5.8414	0.18635	0.4752:0.0:0.5248:0.0	.	465;458	D6RAR4;Q04756	.;HGFA_HUMAN	I	458;465	ENSP00000372224:V458I;ENSP00000421801:V465I	ENSP00000372224:V458I	V	+	1	0	HGFAC	3419033	0.000000	0.05858	0.004000	0.12327	0.014000	0.08584	-0.670000	0.05256	0.302000	0.22762	0.555000	0.69702	GTC		0.667	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3		
ADRA2C	152	broad.mit.edu	37	4	3769412	3769412	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:3769412G>A	ENST00000330055.5	+	1	1288	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	360					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R360Q(1)|p.R360L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTGTCGCGCCGGCGCCGGGCG	0.746																																					Esophageal Squamous(12;454 628 4517 14479)	uc003ghm.3																			2	Substitution - Missense(2)	p.R360Q(2)|p.R360L(2)	lung(1)|endometrium(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(1078-1080)cGg>cAg		Homo sapiens adrenergic, alpha-2C-, receptor (ADRA2C), mRNA.	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						18.0	20.0	19.0					4																	3769412		2025	4144	6169	SO:0001583	missense	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3769412G>A	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.1079G>A	4.37:g.3769412G>A	ENSP00000386069:p.Arg360Gln						p.R360Q	NM_000683	NP_000674	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	0	1117	+			360					P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.1079G>A	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	G	9.752	1.167716	0.21621	.	.	ENSG00000184160	ENST00000330055	T	0.65178	-0.14	3.35	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.47875	0.1469	L	0.58101	1.795	0.32340	N	0.559905	P	0.35348	0.496	B	0.22753	0.041	T	0.52518	-0.8565	9	0.14656	T	0.56	.	7.9953	0.30265	0.1146:0.0:0.8854:0.0	.	360	P18825	ADA2C_HUMAN	Q	360	ENSP00000386069:R360Q	ENSP00000386069:R360Q	R	+	2	0	ADRA2C	3739210	1.000000	0.71417	0.992000	0.48379	0.915000	0.54546	6.835000	0.75344	1.696000	0.51158	0.511000	0.50034	CGG		0.746	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683	
AFM	173	broad.mit.edu	37	4	74354406	74354406	+	Missense_Mutation	SNP	T	T	C	rs139224995	byFrequency	TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:74354406T>C	ENST00000226355.3	+	7	866	c.773T>C	c.(772-774)cTt>cCt	p.L258P		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	258	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTATTTCTCTTGTAGAAGAT	0.353																																						uc003hhb.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(772-774)cTt>cCt		Homo sapiens afamin (AFM), mRNA.		T	PRO/LEU	1,4405	2.1+/-5.4	0,1,2202	116.0	118.0	118.0		773	5.4	0.0	4	dbSNP_134	118	2,8598	2.2+/-6.3	0,2,4298	yes	missense	AFM	NM_001133.2	98	0,3,6500	CC,CT,TT		0.0233,0.0227,0.0231	probably-damaging	258/600	74354406	3,13003	2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74354406T>C	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.773T>C	4.37:g.74354406T>C	ENSP00000226355:p.Leu258Pro						p.L258P	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		6	804	+	Breast(15;0.00102)		258			Albumin 2.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.773T>C	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.684041	0.29872	2.27E-4	2.33E-4	ENSG00000079557	ENST00000226355	D	0.83755	-1.76	5.36	5.36	0.76844	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.420015	0.23859	N	0.043872	D	0.91250	0.7242	M	0.86740	2.835	0.26330	N	0.977538	D	0.76494	0.999	D	0.72338	0.977	D	0.85776	0.1358	10	0.87932	D	0	.	11.7832	0.52026	0.0:0.0:0.0:1.0	.	258	P43652	AFAM_HUMAN	P	258	ENSP00000226355:L258P	ENSP00000226355:L258P	L	+	2	0	AFM	74573270	0.027000	0.19231	0.036000	0.18154	0.005000	0.04900	2.447000	0.44917	2.042000	0.60477	0.533000	0.62120	CTT		0.353	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2		
FAT4	79633	broad.mit.edu	37	4	126373451	126373451	+	Silent	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:126373451G>A	ENST00000394329.3	+	9	11293	c.11280G>A	c.(11278-11280)acG>acA	p.T3760T	FAT4_ENST00000335110.5_Silent_p.T2058T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3760					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAATAGAACGTTTCTTTTGG	0.453																																						uc003ifj.4																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(11278-11280)acG>acA		Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.							106.0	102.0	104.0					4																	126373451		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126373451G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11280G>A	4.37:g.126373451G>A						FAT4_uc011cgp.2_Silent_p.T2058T|FAT4_uc003ifi.1_Silent_p.T1238T	p.T3760T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			8	11280	+			3760					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.11280G>A	CCDS3732.3																																																																																				0.453	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
ENPP6	133121	broad.mit.edu	37	4	185074883	185074883	+	Missense_Mutation	SNP	C	C	T	rs142786439		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:185074883C>T	ENST00000296741.2	-	2	386	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	82					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)	p.R82H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TTCACAATGGCGGCCTATGTC	0.453																																						uc003iwc.3																			1	Substitution - Missense(1)	p.R82H(2)|p.R82C(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15						c.(244-246)cGc>cAc		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.		C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	111.0	102.0	105.0		245	5.4	1.0	4	dbSNP_134	105	0,8600		0,0,4300	no	missense	ENPP6	NM_153343.3	29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	82/441	185074883	3,13003	2203	4300	6503	SO:0001583	missense	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185074883C>T	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.245G>A	4.37:g.185074883C>T	ENSP00000296741:p.Arg82His						p.R82H	NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	1	387	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	82					Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	c.245G>A	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757457	0.69648	6.81E-4	0.0	ENSG00000164303	ENST00000296741	T	0.73047	-0.71	5.44	5.44	0.79542	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.85195	0.5641	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86662	0.1905	10	0.87932	D	0	-18.2652	19.2788	0.94042	0.0:1.0:0.0:0.0	.	82	Q6UWR7	ENPP6_HUMAN	H	82	ENSP00000296741:R82H	ENSP00000296741:R82H	R	-	2	0	ENPP6	185311877	1.000000	0.71417	0.998000	0.56505	0.152000	0.21847	7.487000	0.81328	2.567000	0.86603	0.655000	0.94253	CGC		0.453	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343	
PLEKHG4B	153478	broad.mit.edu	37	5	163558	163558	+	Missense_Mutation	SNP	C	C	T	rs148435989		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:163558C>T	ENST00000283426.6	+	11	2353	c.2303C>T	c.(2302-2304)cCg>cTg	p.P768L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	768							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AAGAAGCTCCCGCTGTGGCAG	0.652																																						uc003jak.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(2302-2304)cCg>cTg		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.		C	LEU/PRO	2,4402		0,2,2200	36.0	42.0	40.0		2303	-4.4	0.0	5	dbSNP_134	40	0,8594		0,0,4297	no	missense	PLEKHG4B	NM_052909.3	98	0,2,6497	TT,TC,CC		0.0,0.0454,0.0154	benign	768/1272	163558	2,12996	2202	4297	6499	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:163558C>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2303C>T	5.37:g.163558C>T	ENSP00000283426:p.Pro768Leu						p.P768L	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	10	2353	+			768						Missense_Mutation	SNP	ENST00000283426.6	37	c.2303C>T	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	C	0.078	-1.188482	0.01607	4.54E-4	0.0	ENSG00000153404	ENST00000283426	T	0.28454	1.61	2.45	-4.41	0.03590	.	.	.	.	.	T	0.12774	0.0310	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26155	-1.0111	9	0.30078	T	0.28	.	4.4532	0.11630	0.0:0.475:0.2016:0.3234	.	768	Q96PX9	PKH4B_HUMAN	L	768	ENSP00000283426:P768L	ENSP00000283426:P768L	P	+	2	0	PLEKHG4B	216558	0.004000	0.15560	0.002000	0.10522	0.002000	0.02628	-0.034000	0.12225	-0.468000	0.06922	-2.087000	0.00375	CCG		0.652	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
IPO11	51194	broad.mit.edu	37	5	61887491	61887491	+	Silent	SNP	T	T	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:61887491T>A	ENST00000325324.6	+	28	2839	c.2670T>A	c.(2668-2670)acT>acA	p.T890T	IPO11_ENST00000409296.3_Silent_p.T930T|IPO11_ENST00000409534.1_Silent_p.T9T	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	890					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AAACAGGAACTTATAAAGAGT	0.338																																						uc011cqr.2																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30						c.(2788-2790)acT>acA		Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.							71.0	72.0	71.0					5																	61887491		2203	4298	6501	SO:0001819	synonymous_variant	51194					cytoplasm|nucleus	protein binding	g.chr5:61887491T>A	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.2670T>A	5.37:g.61887491T>A						IPO11_uc003jtc.3_Silent_p.T890T|IPO11_uc003jte.3_Silent_p.T9T	p.T930T	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	27	2920	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	890					A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Silent	SNP	ENST00000325324.6	37	c.2790T>A	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	T	10.19	1.282204	0.23392	.	.	ENSG00000086200	ENST00000511713	.	.	.	5.42	-0.54	0.11861	.	.	.	.	.	T	0.42585	0.1209	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24261	-1.0165	4	.	.	.	.	2.8948	0.05687	0.4804:0.0692:0.124:0.3264	.	.	.	.	H	155	.	.	L	+	2	0	IPO11	61923247	0.251000	0.23961	0.987000	0.45799	0.996000	0.88848	-0.586000	0.05787	-0.010000	0.14271	0.533000	0.62120	CTT		0.338	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338	
SLC27A6	28965	broad.mit.edu	37	5	128301930	128301930	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:128301930G>A	ENST00000262462.4	+	1	1110	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	SLC27A6_ENST00000395266.1_Missense_Mutation_p.V34M|SLC27A6_ENST00000506176.1_Missense_Mutation_p.V34M			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	34					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CTTCTGGTTCGTGTTGAAGGT	0.463																																						uc003kuy.3																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(100-102)Gtg>Atg		Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.							111.0	110.0	111.0					5																	128301930		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128301930G>A	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.100G>A	5.37:g.128301930G>A	ENSP00000262462:p.Val34Met					SLC27A6_uc003kuz.3_Missense_Mutation_p.V34M	p.V34M	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	1	496	+		all_cancers(142;0.0483)|Prostate(80;0.055)	34					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.100G>A	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	3.294	-0.144404	0.06627	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.50277	0.75;0.75;0.75	4.31	-0.586	0.11694	.	0.143244	0.46758	D	0.000276	T	0.19604	0.0471	N	0.08118	0	0.09310	N	1	B	0.24092	0.097	B	0.17433	0.018	T	0.07065	-1.0792	10	0.45353	T	0.12	-5.057	2.658	0.05018	0.116:0.4866:0.1145:0.2829	.	34	Q9Y2P4	S27A6_HUMAN	M	34	ENSP00000262462:V34M;ENSP00000378684:V34M;ENSP00000421024:V34M	ENSP00000262462:V34M	V	+	1	0	SLC27A6	128329829	0.046000	0.20272	0.316000	0.25252	0.003000	0.03518	-0.539000	0.06113	-0.130000	0.11599	-0.391000	0.06502	GTG		0.463	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031	
PCDHGA1	56114	broad.mit.edu	37	5	140712400	140712400	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:140712400C>T	ENST00000517417.1	+	1	2149	c.2149C>T	c.(2149-2151)Cgg>Tgg	p.R717W	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R717W	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	717					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACAGGCTGCGGCGCTGGCA	0.657																																						uc003lji.2																			0		p.C716*(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(2149-2151)Cgg>Tgg		Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.							63.0	70.0	67.0					5																	140712400		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140712400C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2149C>T	5.37:g.140712400C>T	ENSP00000431083:p.Arg717Trp					PCDHGC5_uc011dan.2_Missense_Mutation_p.R717W	p.R717W	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2149	+			718					Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.2149C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	8.996	0.978977	0.18812	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.53206	0.64;0.63	4.04	-8.08	0.01094	.	0.164215	0.26944	N	0.021706	T	0.36358	0.0964	M	0.66560	2.04	0.09310	N	1	B;B	0.14805	0.004;0.011	B;B	0.20184	0.004;0.028	T	0.17471	-1.0368	10	0.48119	T	0.1	.	9.0484	0.36360	0.6119:0.2591:0.0:0.1289	.	717;717	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	W	717	ENSP00000431083:R717W;ENSP00000367345:R717W	ENSP00000367345:R717W	R	+	1	2	PCDHGA1	140692584	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.122000	0.03267	-1.516000	0.01782	-0.224000	0.12420	CGG		0.657	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
FAM153C	653316	broad.mit.edu	37	5	177466410	177466410	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:177466410G>A	ENST00000507848.1	+	6	332	c.131G>A	c.(130-132)cGt>cAt	p.R44H	FAM153C_ENST00000511189.1_Missense_Mutation_p.R73H|FAM153C_ENST00000398106.2_Missense_Mutation_p.R44H			Q494X1	F153C_HUMAN	family with sequence similarity 153, member C	44										kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTCCACAACGTGGTACGTAT	0.478																																						uc011dge.2																			0				kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(130-132)cGt>cAt		Homo sapiens family with sequence similarity 153, member C (FAM153C), non-coding RNA.							177.0	195.0	189.0					5																	177466410		2201	4298	6499	SO:0001583	missense	653316							g.chr5:177466410G>A	BC101338		5q35.3	2008-01-09				ENSG00000204677			33936	protein-coding gene	gene with protein product							Standard	NR_038353		Approved	NY-REN-7-like	uc011dge.2	Q494X1		ENST00000507848.1:c.131G>A	5.37:g.177466410G>A	ENSP00000424623:p.Arg44His						p.R44H					Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	338	+	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)						A4IF33|B2RUV5|B7ZW12	Missense_Mutation	SNP	ENST00000507848.1	37	c.131G>A		.	.	.	.	.	.	.	.	.	.	G	6.180	0.401339	0.11696	.	.	ENSG00000204677	ENST00000507848;ENST00000398106;ENST00000511856;ENST00000511189	.	.	.	1.11	-2.21	0.06973	.	.	.	.	.	T	0.24198	0.0586	.	.	.	0.09310	N	1	D	0.63880	0.993	P	0.47573	0.55	T	0.07597	-1.0764	6	.	.	.	.	0.0727	0.00024	0.3091:0.2469:0.1991:0.2449	.	44	Q494X1	F153C_HUMAN	H	44;44;121;73	.	.	R	+	2	0	FAM153C	177399016	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.199000	0.01238	-2.012000	0.00950	-1.274000	0.01402	CGT		0.478	FAM153C-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000373556.1	NM_001079527	
ZC3H12D	340152	broad.mit.edu	37	6	149795611	149795611	+	Silent	SNP	C	C	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr6:149795611C>A	ENST00000409806.3	-	2	387	c.69G>T	c.(67-69)gtG>gtT	p.V23V	ZC3H12D_ENST00000416573.2_Silent_p.V23V|ZC3H12D_ENST00000409948.1_Silent_p.V23V|ZC3H12D_ENST00000542614.1_Silent_p.V23V|ZC3H12D_ENST00000389942.5_Silent_p.V23V			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	23					negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GCTTGCCCAACACCCGGAGCA	0.677																																						uc010kid.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(67-69)gtG>gtT		Homo sapiens zinc finger CCCH-type containing 12D (ZC3H12D), mRNA.							17.0	19.0	18.0					6																	149795611		1962	4150	6112	SO:0001819	synonymous_variant	340152					cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding	g.chr6:149795611C>A			6q25.1	2012-07-05	2005-06-30	2005-06-30	ENSG00000178199	ENSG00000178199		"""Zinc fingers, CCCH-type domain containing"""	21175	protein-coding gene	gene with protein product	"""MCP induced protein 4"""	611106	"""chromosome 6 open reading frame 95"""	C6orf95		18178554	Standard	NM_207360		Approved	dJ281H8.1, MCPIP4	uc010kid.3	A2A288	OTTHUMG00000015786	ENST00000409806.3:c.69G>T	6.37:g.149795611C>A						ZC3H12D_uc003qmn.1_Silent_p.V23V	p.V23V	NM_207360	NP_997243	A2A288	ZC12D_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)	1	339	-		Ovarian(120;0.0907)	23					A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2	Silent	SNP	ENST00000409806.3	37	c.69G>T																																																																																					0.677	ZC3H12D-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000286400.2	NM_207360	
CYCS	54205	broad.mit.edu	37	7	25163649	25163649	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr7:25163649C>T	ENST00000305786.2	-	2	259	c.90G>A	c.(88-90)ggG>ggA	p.G30G	CYCS_ENST00000409764.1_Silent_p.G30G|CYCS_ENST00000409409.1_Silent_p.G30G	NM_018947.5	NP_061820.1	P99999	CYC_HUMAN	cytochrome c, somatic	30					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|dephosphorylation (GO:0016311)|intrinsic apoptotic signaling pathway (GO:0097193)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Minocycline(DB01017)	GGAGATTTGGCCCAGTCTTGT	0.443																																						uc003sxl.3																			0				endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(88-90)ggG>ggA		Homo sapiens cytochrome c, somatic (CYCS), nuclear gene encoding mitochondrial protein, mRNA.	Melatonin(DB01065)|Minocycline(DB01017)						54.0	56.0	56.0					7																	25163649		2203	4300	6503	SO:0001819	synonymous_variant	54205				activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding	g.chr7:25163649C>T	M22877	CCDS5393.1	7p21.2	2014-09-17			ENSG00000172115	ENSG00000172115			19986	protein-coding gene	gene with protein product		123970				11790791	Standard	NM_018947		Approved	HCS, CYC	uc003sxl.3	P99999	OTTHUMG00000128495	ENST00000305786.2:c.90G>A	7.37:g.25163649C>T							p.G30G	NM_018947	NP_061820	P99999	CYC_HUMAN			1	260	-			30					A4D166|B2R4I1|P00001|Q6NUR2|Q6NX69|Q96BV4	Silent	SNP	ENST00000305786.2	37	c.90G>A	CCDS5393.1																																																																																				0.443	CYCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250299.2		
NFE2L3	9603	broad.mit.edu	37	7	26225102	26225102	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr7:26225102G>A	ENST00000056233.3	+	4	2043	c.1784G>A	c.(1783-1785)tGt>tAt	p.C595Y		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	595	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.C595Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GCGCAGAACTGTCGTAAACGC	0.368																																						uc003sxq.3																			1	Substitution - Missense(1)	p.C595Y(2)	kidney(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1783-1785)tGt>tAt		Homo sapiens nuclear factor (erythroid-derived 2)-like 3 (NFE2L3), mRNA.							61.0	58.0	59.0					7																	26225102		2203	4299	6502	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225102G>A	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1784G>A	7.37:g.26225102G>A	ENSP00000056233:p.Cys595Tyr						p.C595Y	NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN			3	2056	+			595					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1784G>A	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483904	0.84854	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	D	0.92858	-3.12	5.71	5.71	0.89125	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97705	1.0187	10	0.87932	D	0	-5.5783	19.4639	0.94931	0.0:0.0:1.0:0.0	.	595	Q9Y4A8	NF2L3_HUMAN	Y	595;300	ENSP00000056233:C595Y	ENSP00000056233:C595Y	C	+	2	0	NFE2L3	26191627	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.984000	0.88150	2.703000	0.92315	0.591000	0.81541	TGT		0.368	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1		
KDM7A	80853	broad.mit.edu	37	7	139824534	139824534	+	Missense_Mutation	SNP	C	C	T	rs369398521		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr7:139824534C>T	ENST00000397560.2	-	7	1035	c.938G>A	c.(937-939)cGt>cAt	p.R313H	JHDM1D_ENST00000006967.5_Missense_Mutation_p.R313H	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		313	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					AGATTCATAACGTGCCAAATT	0.358																																						uc003vvm.3																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(937-939)cGt>cAt		Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.		C	HIS/ARG	0,3682		0,0,1841	95.0	86.0	89.0		938	4.3	1.0	7		89	3,8177		0,3,4087	no	missense	JHDM1D	NM_030647.1	29	0,3,5928	TT,TC,CC		0.0367,0.0,0.0253	benign	313/942	139824534	3,11859	1841	4090	5931	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139824534C>T																												ENST00000397560.2:c.938G>A	7.37:g.139824534C>T	ENSP00000380692:p.Arg313His						p.R313H	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN			6	942	-	Melanoma(164;0.0142)		313			JmjC.		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.938G>A	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577367	0.65878	0.0	3.67E-4	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.71817	-0.6;-0.6	5.49	4.34	0.51931	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.060735	0.64402	D	0.000002	T	0.52435	0.1734	N	0.16656	0.425	0.35337	D	0.786138	B	0.30686	0.29	B	0.13407	0.009	T	0.62296	-0.6884	10	0.87932	D	0	-3.5299	12.7856	0.57502	0.8568:0.1432:0.0:0.0	.	313	Q6ZMT4	KDM7_HUMAN	H	313	ENSP00000380692:R313H;ENSP00000006967:R313H	ENSP00000006967:R313H	R	-	2	0	JHDM1D	139471003	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.085000	0.64468	1.021000	0.39600	-0.262000	0.10625	CGT		0.358	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1		
OR2A2	442361	broad.mit.edu	37	7	143807248	143807248	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr7:143807248C>T	ENST00000408979.2	+	1	642	c.573C>T	c.(571-573)acC>acT	p.T191T		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GTGCTGACACCTGGGTTAACC	0.512																																						uc011ktz.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(571-573)acC>acT		Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.							133.0	135.0	134.0					7																	143807248		1981	4181	6162	SO:0001819	synonymous_variant	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807248C>T		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.573C>T	7.37:g.143807248C>T							p.T191T	NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN			0	573	+	Melanoma(164;0.0783)		191					B2RN85|Q8NGT6	Silent	SNP	ENST00000408979.2	37	c.573C>T	CCDS43671.1																																																																																				0.512	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1		
PLAG1	5324	broad.mit.edu	37	8	57079222	57079222	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr8:57079222C>T	ENST00000316981.3	-	5	1562	c.1083G>A	c.(1081-1083)atG>atA	p.M361I	PLAG1_ENST00000429357.2_Missense_Mutation_p.M361I|PLAG1_ENST00000423799.2_Missense_Mutation_p.M279I	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	361	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M361I(1)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CTTGTAACTCCATCAGGTAAC	0.438			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	uc003xsq.4				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"""TCEA1, LIFR, CTNNB1, CHCHD7"""		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	1	Substitution - Missense(1)	p.M361I(2)	central_nervous_system(1)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1081-1083)atG>atA		Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.							125.0	120.0	122.0					8																	57079222		2203	4300	6503	SO:0001583	missense	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57079222C>T	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.1083G>A	8.37:g.57079222C>T	ENSP00000325546:p.Met361Ile					PLAG1_uc003xsr.4_Missense_Mutation_p.M361I|PLAG1_uc010lyi.3_Missense_Mutation_p.M361I|PLAG1_uc010lyj.3_Missense_Mutation_p.M279I|PLAG1_uc022aur.1_Missense_Mutation_p.M279I	p.M361I	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		2	1534	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	361			Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	c.1083G>A	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	C	6.133	0.392808	0.11638	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.12147	2.71;3.41;2.71	5.78	5.78	0.91487	.	0.170124	0.64402	D	0.000005	T	0.13670	0.0331	L	0.43152	1.355	0.58432	D	0.999994	P	0.44090	0.826	B	0.37780	0.258	T	0.10706	-1.0618	10	0.12103	T	0.63	-19.758	20.0024	0.97423	0.0:1.0:0.0:0.0	.	361	Q6DJT9	PLAG1_HUMAN	I	361;279;361	ENSP00000325546:M361I;ENSP00000404067:M279I;ENSP00000416537:M361I	ENSP00000325546:M361I	M	-	3	0	PLAG1	57241776	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.630000	0.61297	2.722000	0.93159	0.467000	0.42956	ATG		0.438	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655	
MATN2	4147	broad.mit.edu	37	8	99044505	99044505	+	Silent	SNP	T	T	C			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr8:99044505T>C	ENST00000520016.1	+	15	2665	c.2541T>C	c.(2539-2541)tcT>tcC	p.S847S	MATN2_ENST00000254898.5_Silent_p.S847S|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000524308.1_Silent_p.S806S|MATN2_ENST00000522025.2_Silent_p.S563S|MATN2_ENST00000521689.1_Silent_p.S847S			O00339	MATN2_HUMAN	matrilin 2	847						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GACAGGACTCTCCAGCAGGGG	0.473																																						uc003yic.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(2539-2541)tcT>tcC		Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.							60.0	59.0	60.0					8																	99044505		1880	4106	5986	SO:0001819	synonymous_variant	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:99044505T>C	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.2541T>C	8.37:g.99044505T>C						MATN2_uc010mbh.1_Silent_p.S806S|MATN2_uc003yid.3_Silent_p.S847S|MATN2_uc003yie.1_Silent_p.S847S|MATN2_uc010mbi.1_Silent_p.S680S|RPL30_uc010mbk.2_Intron	p.S847S	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		15	2772	+	Breast(36;1.43e-06)		847					A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	37	c.2541T>C	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.32|10.32	1.317476|1.317476	0.23908|0.23908	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000519582;ENST00000522135|ENST00000518154	.|D	.|0.83591	.|-1.74	5.9|5.9	0.486|0.486	0.16836|0.16836	.|.	.|0.157471	.|0.35179	.|N	.|0.003384	T|T	0.73590|0.73590	0.3606|0.3606	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.60311|0.60311	-0.7288|-0.7288	4|7	.|0.26408	.|T	.|0.33	-29.9176|-29.9176	1.1109|1.1109	0.01704|0.01704	0.3187:0.3596:0.1458:0.1759|0.3187:0.3596:0.1458:0.1759	.|.	.|.	.|.	.|.	P|P	103;10|630	.|ENSP00000429622:S630P	.|ENSP00000429622:S630P	L|S	+|+	2|1	0|0	MATN2|MATN2	99113681|99113681	0.853000|0.853000	0.29707|0.29707	0.997000|0.997000	0.53966|0.53966	0.942000|0.942000	0.58702|0.58702	-0.374000|-0.374000	0.07484|0.07484	0.057000|0.057000	0.16193|0.16193	-0.248000|-0.248000	0.11899|0.11899	CTC|TCC		0.473	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1		
P2RY8	286530	broad.mit.edu	37	X	1584470	1584470	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:1584470C>T	ENST00000381297.4	-	2	1192	c.982G>A	c.(982-984)Gcc>Acc	p.A328T	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	328						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTGGTCCTGGCGGAGAAGAGG	0.682			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	uc022brv.1				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		"""B-ALL, Downs associated ALL"""		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(982-984)Gcc>Acc		Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.							47.0	55.0	52.0					X																	1584470		2203	4295	6498	SO:0001583	missense	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584470C>T	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.982G>A	X.37:g.1584470C>T	ENSP00000370697:p.Ala328Thr					CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.A328T	p.A328T	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN			0	982	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	328						Missense_Mutation	SNP	ENST00000381297.4	37	c.982G>A	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	c	13.96	2.393555	0.42410	.	.	ENSG00000182162	ENST00000381297	T	0.61392	0.11	2.73	2.73	0.32206	.	0.473294	0.18039	U	0.153665	T	0.28962	0.0719	N	0.08118	0	0.09310	N	1	B	0.34181	0.44	B	0.14023	0.01	T	0.08493	-1.0719	10	0.13470	T	0.59	.	12.3675	0.55236	0.0:1.0:0.0:0.0	.	328	Q86VZ1	P2RY8_HUMAN	T	328	ENSP00000370697:A328T	ENSP00000370697:A328T	A	-	1	0	P2RY8	1544470	0.219000	0.23619	0.057000	0.19452	0.469000	0.32828	1.484000	0.35508	1.007000	0.39238	0.279000	0.19357	GCC		0.682	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129	
GEMIN8	54960	broad.mit.edu	37	X	14027285	14027285	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:14027285C>T	ENST00000380523.4	-	5	794	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	GEMIN8_ENST00000398355.3_Missense_Mutation_p.R159Q	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	159					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						CTGCTGCTGCCGCCCTGAGAA	0.582																																						uc004cwb.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						c.(475-477)cGg>cAg		Homo sapiens gem (nuclear organelle) associated protein 8 (GEMIN8), transcript variant 3, mRNA.							52.0	45.0	47.0					X																	14027285		2203	4300	6503	SO:0001583	missense	54960				spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding	g.chrX:14027285C>T	BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"""family with sequence similarity 51, member A1"""	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.476G>A	X.37:g.14027285C>T	ENSP00000369895:p.Arg159Gln					GEMIN8_uc004cwc.3_Missense_Mutation_p.R159Q|GEMIN8_uc004cwd.3_Missense_Mutation_p.R159Q	p.R159Q	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN			4	819	-			159					C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	c.476G>A	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.027505	0.75390	.	.	ENSG00000046647	ENST00000380523;ENST00000398355;ENST00000332885	T;T;T	0.46819	0.86;0.86;0.86	5.65	5.65	0.86999	.	0.171597	0.53938	D	0.000058	T	0.60919	0.2306	L	0.55213	1.73	0.36755	D	0.882968	D	0.89917	1.0	D	0.67382	0.951	T	0.69157	-0.5219	10	0.72032	D	0.01	.	11.2292	0.48901	0.0:0.9153:0.0:0.0847	.	159	Q9NWZ8	GEMI8_HUMAN	Q	159	ENSP00000369895:R159Q;ENSP00000381398:R159Q;ENSP00000369894:R159Q	ENSP00000369894:R159Q	R	-	2	0	GEMIN8	13937206	0.994000	0.37717	1.000000	0.80357	0.821000	0.46438	1.318000	0.33643	2.397000	0.81536	0.600000	0.82982	CGG		0.582	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	NM_017856	
KLHL34	257240	broad.mit.edu	37	X	21674666	21674666	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:21674666G>A	ENST00000379499.2	-	1	1782	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	414						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GTGGGCCCGCGCTTCCCGCAT	0.721																																						uc004czz.1																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(1240-1242)gCg>gTg		Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.							5.0	6.0	6.0					X																	21674666		1996	3854	5850	SO:0001583	missense	257240							g.chrX:21674666G>A	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1241C>T	X.37:g.21674666G>A	ENSP00000368813:p.Ala414Val					JA611288_uc022btu.1_5'Flank	p.A414V	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			0	1783	-			414						Missense_Mutation	SNP	ENST00000379499.2	37	c.1241C>T	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	g	11.33	1.607416	0.28623	.	.	ENSG00000185915	ENST00000379499	T	0.70282	-0.47	4.46	4.46	0.54185	Kelch-type beta propeller (1);	0.272209	0.34725	N	0.003728	T	0.69006	0.3063	M	0.73319	2.225	0.29135	N	0.879396	D	0.58268	0.982	P	0.44772	0.46	T	0.69540	-0.5118	10	0.45353	T	0.12	.	9.6576	0.39936	0.0:0.0:0.6083:0.3917	.	414	Q8N239	KLH34_HUMAN	V	414	ENSP00000368813:A414V	ENSP00000368813:A414V	A	-	2	0	KLHL34	21584587	0.999000	0.42202	0.681000	0.30009	0.315000	0.28087	3.307000	0.51888	2.055000	0.61198	0.411000	0.27672	GCG		0.721	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270	
USP11	8237	broad.mit.edu	37	X	47102906	47102906	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:47102906C>T	ENST00000218348.3	+	13	1824	c.1824C>T	c.(1822-1824)taC>taT	p.Y608Y	USP11_ENST00000377107.2_Silent_p.Y565Y	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	608	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ACTCCTACTACGGCCTGATGC	0.592																																						uc004dhp.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(1822-1824)taC>taT		Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.							126.0	91.0	103.0					X																	47102906		2203	4300	6503	SO:0001819	synonymous_variant	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47102906C>T	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1824C>T	X.37:g.47102906C>T						USP11_uc004dhq.3_Silent_p.Y335Y	p.Y608Y	NM_004651	NP_004642	P51784	UBP11_HUMAN			12	1824	+			608					B2RTX1|Q8IUG6|Q9BWE1	Silent	SNP	ENST00000218348.3	37	c.1824C>T	CCDS14277.1																																																																																				0.592	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651	
ZNF81	347344	broad.mit.edu	37	X	47775654	47775654	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:47775654G>A	ENST00000376954.1	+	6	1977	c.1609G>A	c.(1609-1611)Gac>Aac	p.D537N	ZNF81_ENST00000338637.7_Missense_Mutation_p.D537N			P51508	ZNF81_HUMAN	zinc finger protein 81	537					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(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GGCCTTCACCGACAGGTCAAA	0.443																																						uc022bvq.1																			0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(1609-1611)Gac>Aac		Homo sapiens zinc finger protein 81 (ZNF81), mRNA.							62.0	61.0	61.0					X																	47775654		2152	4272	6424	SO:0001583	missense	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47775654G>A	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1609G>A	X.37:g.47775654G>A	ENSP00000366153:p.Asp537Asn					ZNF81_uc010nhy.2_Missense_Mutation_p.D537N	p.D537N	NM_007137	NP_009068	P51508	ZNF81_HUMAN			4	1858	+		all_lung(315;0.0973)	537					Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	c.1609G>A	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	G	9.895	1.205278	0.22205	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.35605	1.3;1.3	4.4	4.4	0.53042	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42964	D	0.000634	T	0.28001	0.0690	N	0.14661	0.345	0.09310	N	1	D	0.58268	0.982	P	0.51193	0.662	T	0.07121	-1.0789	10	0.37606	T	0.19	.	8.841	0.35142	0.0:0.0:0.7771:0.2229	.	537	P51508	ZNF81_HUMAN	N	537	ENSP00000366153:D537N;ENSP00000341151:D537N	ENSP00000341151:D537N	D	+	1	0	ZNF81	47660598	0.000000	0.05858	0.937000	0.37676	0.974000	0.67602	-0.337000	0.07852	2.445000	0.82738	0.544000	0.68410	GAC		0.443	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137	
SSX9	280660	broad.mit.edu	37	X	48159131	48159131	+	RNA	SNP	G	G	A	rs376674349		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:48159131G>A	ENST00000608568.1	-	0	580					NR_073393.1		Q7RTT3	SSX9_HUMAN	synovial sarcoma, X breakpoint 9						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						GTTTCCCATCGTTCTGTAAGC	0.468													N|||	4	0.0010596	0.0	0.0	3775	,	,		15147	0.004		0.0	False		,,,				2504	0.0					uc022bvu.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						c.(400-402)aaC>aaT		RecName: Full=Protein SSX9;		G		0,3835		0,0,1632,571	221.0	216.0	218.0			-1.1	0.0	X		218	1,6726		0,1,2427,1871	no	intergenic				0,1,4059,2442	AA,AG,GG,G		0.0149,0.0,0.0095			48159131	1,10561	2203	4299	6502			280660							g.chrX:48159131G>A	BK000689		Xp11.23	2013-01-16			ENSG00000204648	ENSG00000204648			19655	other	unknown		300544				12216073	Standard	NR_073393		Approved		uc031tjk.1	Q7RTT3	OTTHUMG00000021490		X.37:g.48159131G>A							p.N134N							4	404	-									Silent	SNP	ENST00000608568.1	37	c.402C>T																																																																																					0.468	SSX9-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000472372.1	NR_073393	
ERCC6L	54821	broad.mit.edu	37	X	71424939	71424939	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:71424939C>T	ENST00000334463.3	-	2	3813	c.3678G>A	c.(3676-3678)gcG>gcA	p.A1226A	ERCC6L_ENST00000373657.1_Silent_p.A1103A|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1226					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TTATGTCAAGCGCTTTAACTA	0.363																																						uc004eaq.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(3676-3678)gcG>gcA		Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.							77.0	68.0	71.0					X																	71424939		2203	4300	6503	SO:0001819	synonymous_variant	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71424939C>T	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3678G>A	X.37:g.71424939C>T						PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Silent_p.A1103A	p.A1226A	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN			1	3775	-	Renal(35;0.156)		1226					Q8NCI1|Q96H93|Q9NXQ8	Silent	SNP	ENST00000334463.3	37	c.3678G>A	CCDS35329.1																																																																																				0.363	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669	
TBX22	50945	broad.mit.edu	37	X	79286010	79286010	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:79286010C>T	ENST00000373294.5	+	8	991	c.963C>T	c.(961-963)ggC>ggT	p.G321G	TBX22_ENST00000373291.1_Silent_p.G201G|TBX22_ENST00000373296.3_Silent_p.G321G|TBX22_ENST00000442340.1_Silent_p.G201G	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	321					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GAAGCAGTGGCTCATCTCCAG	0.433																																						uc010nmg.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(961-963)ggC>ggT		Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.							97.0	92.0	94.0					X																	79286010		2203	4300	6503	SO:0001819	synonymous_variant	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79286010C>T	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.963C>T	X.37:g.79286010C>T						TBX22_uc004edi.1_Silent_p.G201G|TBX22_uc004edj.1_Silent_p.G321G	p.G321G	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN			8	1097	+			321					Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	ENST00000373294.5	37	c.963C>T	CCDS14445.1																																																																																				0.433	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954	
H2BFWT	158983	broad.mit.edu	37	X	103267902	103267902	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:103267902G>A	ENST00000217926.5	-	1	357	c.331C>T	c.(331-333)Cat>Tat	p.H111Y	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	111						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AATATGTCATGAACCAAAGAA	0.637																																						uc004elr.3																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(331-333)Cat>Tat		Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA.							46.0	40.0	42.0					X																	103267902		2203	4300	6503	SO:0001583	missense	158983				nucleosome assembly	nuclear membrane|nucleosome	DNA binding	g.chrX:103267902G>A	BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"""Histones / Replication-independent"""	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.331C>T	X.37:g.103267902G>A	ENSP00000354723:p.His111Tyr						p.H111Y	NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN			0	355	-			111					B1AK72|Q147W3	Missense_Mutation	SNP	ENST00000217926.5	37	c.331C>T	CCDS35362.1	.	.	.	.	.	.	.	.	.	.	.	13.34	2.206604	0.39003	.	.	ENSG00000123569	ENST00000217926	T	0.67865	-0.29	2.84	-0.967	0.10316	Histone-fold (2);Histone core (1);	2.291560	0.03617	U	0.235741	T	0.59321	0.2185	L	0.38531	1.155	0.09310	N	1	P	0.46064	0.872	P	0.44732	0.459	T	0.52109	-0.8619	10	0.87932	D	0	.	5.0492	0.14499	0.0:0.1248:0.2553:0.6199	.	111	Q7Z2G1	H2BWT_HUMAN	Y	111	ENSP00000354723:H111Y	ENSP00000354723:H111Y	H	-	1	0	H2BFWT	103154558	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	3.660000	0.54496	-0.310000	0.08766	-0.225000	0.12378	CAT		0.637	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057756.2	NM_001002916	
TMEM255A	55026	broad.mit.edu	37	X	119394752	119394752	+	Silent	SNP	A	A	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:119394752A>G	ENST00000309720.5	-	10	1146	c.1023T>C	c.(1021-1023)ttT>ttC	p.F341F	TMEM255A_ENST00000440464.1_Silent_p.F233F|TMEM255A_ENST00000371352.1_Silent_p.F177F|TMEM255A_ENST00000371369.4_Silent_p.F317F	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	341	Pro-rich.					integral component of membrane (GO:0016021)											GTGGCTTTTCAAAAGGTGGAT	0.507																																						uc004eso.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						c.(1021-1023)ttT>ttC		Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.							129.0	107.0	114.0					X																	119394752		2203	4300	6503	SO:0001819	synonymous_variant	55026					integral to membrane		g.chrX:119394752A>G	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.1023T>C	X.37:g.119394752A>G						FAM70A_uc004esp.4_Silent_p.F317F|FAM70A_uc010nqo.3_Silent_p.F233F	p.F341F	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN			9	1250	-			341			Pro-rich.		A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Silent	SNP	ENST00000309720.5	37	c.1023T>C	CCDS14597.1																																																																																				0.507	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938	
RP1-274L7.1	0	broad.mit.edu	37	X	129629140	129629140	+	lincRNA	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:129629140C>T	ENST00000458525.1	-	0	1055				FAM45B_ENST00000592932.1_RNA														p.A3E(1)									AAGATGGCTGCGGCCGAGTTG	0.542																																						uc010nrh.3																			1	Substitution - Missense(1)	p.A3E(1)	upper_aerodigestive_tract(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14						c.(7-9)gCg>gTg		Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.							51.0	52.0	52.0					X																	129629140		2203	4300	6503			55855							g.chrX:129629140C>T																													X.37:g.129629140C>T						BC043223_uc004evu.3_Non-coding_Transcript	p.A3V	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN		all cancers(201;0.0293)	0	226	+		Lung NSC(174;0.094)|all_lung(145;0.123)	3						Missense_Mutation	SNP	ENST00000458525.1	37	c.8C>T																																																																																					0.542	RP1-274L7.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000058271.1		
F9	2158	broad.mit.edu	37	X	138623341	138623341	+	Missense_Mutation	SNP	T	T	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:138623341T>G	ENST00000218099.2	+	4	391	c.384T>G	c.(382-384)tgT>tgG	p.C128W	F9_ENST00000479617.2_3'UTR|F9_ENST00000394090.2_Intron	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	128	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	GAAAGAACTGTGAATTAGGTA	0.348																																						uc004fas.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35						c.(382-384)tgT>tgG		Homo sapiens coagulation factor IX (F9), mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						160.0	130.0	140.0					X																	138623341		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138623341T>G	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.384T>G	X.37:g.138623341T>G	ENSP00000218099:p.Cys128Trp					F9_uc004fat.1_Intron	p.C128W	NM_000133	NP_000124	P00740	FA9_HUMAN			3	413	+	Acute lymphoblastic leukemia(192;0.000127)		128			EGF-like 1; calcium-binding (Potential).		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.384T>G	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.492367	0.64074	.	.	ENSG00000101981	ENST00000218099	D	0.98419	-4.92	5.81	4.65	0.58169	EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99432	0.9799	H	0.99806	4.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97570	1.0104	10	0.87932	D	0	.	9.0244	0.36220	0.0:0.0878:0.0:0.9122	.	128	P00740	FA9_HUMAN	W	128	ENSP00000218099:C128W	ENSP00000218099:C128W	C	+	3	2	F9	138451007	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.302000	0.65733	0.819000	0.34492	0.481000	0.45027	TGT		0.348	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1		
GABRA3	2556	broad.mit.edu	37	X	151336828	151336828	+	Missense_Mutation	SNP	T	T	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:151336828T>A	ENST00000370314.4	-	10	1589	c.1351A>T	c.(1351-1353)Agt>Tgt	p.S451C	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.S451C	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	451					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTGCTGACACTGTTGTAGGTC	0.527																																					NSCLC(142;2578 2613 10251 16743)	uc010ntk.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37						c.(1351-1353)Agt>Tgt		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						275.0	215.0	235.0					X																	151336828		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151336828T>A		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1351A>T	X.37:g.151336828T>A	ENSP00000359337:p.Ser451Cys						p.S451C	NM_000808	NP_000799	P34903	GBRA3_HUMAN			9	1591	-	Acute lymphoblastic leukemia(192;6.56e-05)		451					Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.1351A>T	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552311	0.65311	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.82344	-1.6;-1.6;-1.6	4.48	4.48	0.54585	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.046390	0.85682	D	0.000000	D	0.86485	0.5944	M	0.64170	1.965	0.44055	D	0.996793	D	0.63046	0.992	P	0.57371	0.819	D	0.87394	0.2365	10	0.72032	D	0.01	.	11.0236	0.47732	0.0:0.0:0.0:1.0	.	451	P34903	GBRA3_HUMAN	C	451	ENSP00000359337:S451C;ENSP00000359334:S451C;ENSP00000443527:S451C	ENSP00000359334:S451C	S	-	1	0	GABRA3	151087484	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.110000	0.64622	1.568000	0.49683	0.438000	0.28831	AGT		0.527	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808	
CTAG2	30848	broad.mit.edu	37	X	153880614	153880614	+	Silent	SNP	T	T	C			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:153880614T>C	ENST00000247306.4	-	2	624	c.561A>G	c.(559-561)ccA>ccG	p.P187P	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	187	Poly-Pro.					centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCCCTCGGGTGGCGGCGGGC	0.602																																						uc004fmi.2																			0				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10						c.(559-561)ccA>ccG		Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.							64.0	69.0	67.0					X																	153880614		2203	4298	6501	SO:0001819	synonymous_variant	30848					centrosome		g.chrX:153880614T>C	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.561A>G	X.37:g.153880614T>C						CTAG2_uc004fmh.2_Intron	p.P187P	NM_020994	NP_066274	O75638	CTAG2_HUMAN			1	625	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		187			Poly-Pro.		O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Silent	SNP	ENST00000247306.4	37	c.561A>G	CCDS14759.1																																																																																				0.602	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994	
F8	2157	broad.mit.edu	37	X	154156957	154156957	+	Missense_Mutation	SNP	T	T	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:154156957T>G	ENST00000360256.4	-	14	5308	c.5108A>C	c.(5107-5109)gAa>gCa	p.E1703A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1703					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCTCTGATTTTCATCCTCATC	0.408																																						uc004fmt.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(5107-5109)gAa>gCa		Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						100.0	87.0	92.0					X																	154156957		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154156957T>G	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5108A>C	X.37:g.154156957T>G	ENSP00000353393:p.Glu1703Ala						p.E1703A	NM_000132	NP_000123	P00451	FA8_HUMAN			13	5279	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1703					Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.5108A>C	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	T	10.05	1.245190	0.22796	.	.	ENSG00000185010	ENST00000360256	D	0.99136	-5.47	5.01	3.79	0.43588	.	0.402953	0.26971	N	0.021571	D	0.96337	0.8805	L	0.32530	0.975	0.09310	N	1	B	0.29766	0.256	B	0.32980	0.156	D	0.91089	0.4905	10	0.25751	T	0.34	-4.9594	7.0784	0.25217	0.2039:0.0:0.0:0.7961	.	1703	P00451	FA8_HUMAN	A	1703	ENSP00000353393:E1703A	ENSP00000353393:E1703A	E	-	2	0	F8	153810151	0.642000	0.27260	0.021000	0.16686	0.986000	0.74619	1.229000	0.32600	0.531000	0.28639	0.441000	0.28932	GAA		0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
