#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
BRWD1	54014	broad.mit.edu	37	21	40572223	40572223	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr21:40572223C>T	ENST00000333229.2	-	39	5002	c.4675G>A	c.(4675-4677)Gaa>Aaa	p.E1559K	BRWD1_ENST00000380800.3_Missense_Mutation_p.E1559K|BRWD1_ENST00000342449.3_Missense_Mutation_p.E1559K	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1559					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GAGGAGGATTCACGAGCTCTG	0.443																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(4675-4677)Gaa>Aaa		bromodomain and WD repeat domain containing 1							139.0	137.0	138.0					21																	40572223		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40572223C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4675G>A	21.37:g.40572223C>T	ENSP00000330753:p.Glu1559Lys					BRWD1_ENST00000333229.2_Missense_Mutation_p.E1559K|BRWD1_ENST00000380800.3_Missense_Mutation_p.E1559K	p.E1559K	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			39	4753	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1559					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.4675G>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391397	0.42410	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.54675	0.56;0.59;0.67	4.95	4.05	0.47172	.	0.722454	0.12647	N	0.450779	T	0.44477	0.1295	L	0.47716	1.5	0.30410	N	0.779151	B;B	0.12630	0.006;0.0	B;B	0.13407	0.009;0.001	T	0.35425	-0.9789	10	0.22109	T	0.4	-5.4904	10.9847	0.47516	0.0:0.9119:0.0:0.0881	.	1559;1559	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	K	1559	ENSP00000330753:E1559K;ENSP00000344333:E1559K;ENSP00000370178:E1559K	ENSP00000330753:E1559K	E	-	1	0	BRWD1	39494093	0.003000	0.15002	0.221000	0.23827	0.943000	0.58893	1.411000	0.34702	2.300000	0.77407	0.563000	0.77884	GAA		0.443	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		15	28	0	0	0	0.003163	0	15	28				
NELL1	4745	broad.mit.edu	37	11	20907084	20907084	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:20907084A>G	ENST00000357134.5	+	5	753	c.601A>G	c.(601-603)Aaa>Gaa	p.K201E	NELL1_ENST00000325319.5_Missense_Mutation_p.K144E|NELL1_ENST00000532434.1_Missense_Mutation_p.K201E|NELL1_ENST00000298925.5_Missense_Mutation_p.K229E	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	201	Laminin G-like.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TGGCTTATTCAAAGTAAGCAC	0.393																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(685-687)Aaa>Gaa		NEL-like 1 (chicken)							72.0	66.0	68.0					11																	20907084		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20907084A>G	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.601A>G	11.37:g.20907084A>G	ENSP00000349654:p.Lys201Glu					NELL1_ENST00000532434.1_Missense_Mutation_p.K201E|NELL1_ENST00000357134.5_Missense_Mutation_p.K201E|NELL1_ENST00000325319.5_Missense_Mutation_p.K144E	p.K229E			Q92832	NELL1_HUMAN			6	838	+			201			TSP N-terminal.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.685A>G	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.520358	0.64747	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.80738	4.53;4.53;-1.41;4.53	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82655	0.5084	N	0.20766	0.605	0.49483	D	0.999797	D;B;P;B	0.67145	0.996;0.276;0.907;0.129	D;B;P;B	0.76071	0.987;0.145;0.747;0.103	D	0.85668	0.1293	10	0.87932	D	0	-20.1232	15.1164	0.72407	1.0:0.0:0.0:0.0	.	144;229;201;201	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	E	229;201;144;201	ENSP00000298925:K229E;ENSP00000349654:K201E;ENSP00000317837:K144E;ENSP00000437170:K201E	ENSP00000298925:K229E	K	+	1	0	NELL1	20863660	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.370000	0.79589	2.044000	0.60594	0.482000	0.46254	AAA		0.393	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		13	26	0	0	0	0.001368	0	13	26				
KAZN	23254	broad.mit.edu	37	1	15287295	15287295	+	Silent	SNP	C	C	T	rs150589352	byFrequency	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:15287295C>T	ENST00000376030.2	+	2	636	c.342C>T	c.(340-342)gtC>gtT	p.V114V	KAZN_ENST00000400798.2_Silent_p.V20V|KAZN_ENST00000503743.1_Silent_p.V114V|KAZN_ENST00000361144.5_Silent_p.V108V|KAZN_ENST00000400797.3_Silent_p.V20V|KAZN_ENST00000422387.2_Silent_p.V114V	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	114					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CCTCTGAGGTCCTCTCGGCCA	0.612																																						ENST00000376030.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						c.(340-342)gtC>gtT		kazrin, periplakin interacting protein							31.0	30.0	31.0					1																	15287295		2203	4300	6503	SO:0001819	synonymous_variant	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15287295C>T	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.342C>T	1.37:g.15287295C>T						KAZN_ENST00000400797.3_Silent_p.V20V|KAZN_ENST00000422387.2_Silent_p.V114V|KAZN_ENST00000361144.5_Silent_p.V108V|KAZN_ENST00000400798.2_Silent_p.V20V|KAZN_ENST00000503743.1_Silent_p.V114V	p.V114V	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN			2	636	+			114					B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP	ENST00000376030.2	37	c.342C>T	CCDS152.2																																																																																				0.612	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		7	10	0	0	0	0.003080	0	7	10				
CR2	1380	broad.mit.edu	37	1	207639997	207639997	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:207639997G>A	ENST00000367058.3	+	2	374	c.185G>A	c.(184-186)aGt>aAt	p.S62N	CR2_ENST00000367059.3_Missense_Mutation_p.S62N|CR2_ENST00000367057.3_Missense_Mutation_p.S62N|CR2_ENST00000458541.2_Missense_Mutation_p.S62N	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	62	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGAGAAAAAAGTCTATTATGC	0.398																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(184-186)aGt>aAt		complement component (3d/Epstein Barr virus) receptor 2							99.0	100.0	100.0					1																	207639997		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207639997G>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.185G>A	1.37:g.207639997G>A	ENSP00000356025:p.Ser62Asn					CR2_ENST00000458541.2_Missense_Mutation_p.S62N|CR2_ENST00000367059.3_Missense_Mutation_p.S62N|CR2_ENST00000367058.3_Missense_Mutation_p.S62N	p.S62N	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			2	374	+			62			Sushi 1.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.185G>A	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	3.617	-0.078455	0.07184	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.0	-10.0	0.00425	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.34832	0.0911	L	0.31420	0.93	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.0	T	0.12656	-1.0539	9	0.15952	T	0.53	.	1.7277	0.02925	0.3267:0.1667:0.0817:0.4249	.	62;62;62	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	N	62	ENSP00000356025:S62N;ENSP00000356024:S62N;ENSP00000356026:S62N;ENSP00000404222:S62N	ENSP00000356024:S62N	S	+	2	0	CR2	205706620	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.638000	0.00407	-3.128000	0.00237	-2.559000	0.00174	AGT		0.398	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		24	91	0	0	0	0.002780	0	24	91				
GPR156	165829	broad.mit.edu	37	3	119912164	119912164	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:119912164C>T	ENST00000464295.1	-	4	786	c.341G>A	c.(340-342)aGc>aAc	p.S114N	GPR156_ENST00000461057.1_Missense_Mutation_p.S114N|GPR156_ENST00000315843.3_Missense_Mutation_p.S114N			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TTCCATTGAGCTCCCCACTAA	0.413																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(340-342)aGc>aAc		G protein-coupled receptor 156							98.0	89.0	92.0					3																	119912164		2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119912164C>T	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.341G>A	3.37:g.119912164C>T	ENSP00000417261:p.Ser114Asn					GPR156_ENST00000315843.3_Missense_Mutation_p.S114N|GPR156_ENST00000461057.1_Missense_Mutation_p.S114N	p.S114N			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	4	786	-			114					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.341G>A	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220835	0.39201	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.25414	1.8;1.8;1.8	5.08	2.04	0.26737	GPCR, family 3, C-terminal (2);	0.517876	0.20172	N	0.097711	T	0.13628	0.0330	N	0.19112	0.55	0.20074	N	0.999934	P;P	0.38677	0.642;0.642	B;B	0.34652	0.187;0.124	T	0.14952	-1.0454	9	.	.	.	-1.0965	9.4337	0.38626	0.1469:0.3703:0.4828:0.0	.	114;114	E9PFZ4;Q8NFN8	.;GP156_HUMAN	N	114	ENSP00000417261:S114N;ENSP00000324553:S114N;ENSP00000418758:S114N	.	S	-	2	0	GPR156	121394854	0.041000	0.20044	0.937000	0.37676	0.973000	0.67179	0.757000	0.26433	0.805000	0.34159	0.655000	0.94253	AGC		0.413	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		27	44	0	0	0	0.009535	0	27	44				
PPFIA4	8497	broad.mit.edu	37	1	203024771	203024771	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:203024771G>A	ENST00000447715.2	+	21	2416	c.1975G>A	c.(1975-1977)Gac>Aac	p.D659N	PPFIA4_ENST00000367240.2_Missense_Mutation_p.D660N|PPFIA4_ENST00000272198.6_Missense_Mutation_p.D175N|PPFIA4_ENST00000599966.1_Missense_Mutation_p.D175N|PPFIA4_ENST00000295706.4_Missense_Mutation_p.D175N|PPFIA4_ENST00000414050.2_Missense_Mutation_p.D388N			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	659					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGCTGCCCAGGACCTGGACCG	0.657																																						ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(1978-1980)Gac>Aac		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							46.0	52.0	50.0					1																	203024771		2132	4230	6362	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203024771G>A	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.1975G>A	1.37:g.203024771G>A	ENSP00000402576:p.Asp659Asn					PPFIA4_ENST00000295706.4_Missense_Mutation_p.D175N|PPFIA4_ENST00000414050.2_Missense_Mutation_p.D388N|PPFIA4_ENST00000599966.1_Missense_Mutation_p.D175N|PPFIA4_ENST00000447715.2_Missense_Mutation_p.D659N|PPFIA4_ENST00000272198.6_Missense_Mutation_p.D175N	p.D660N			O75335	LIPA4_HUMAN			15	2505	+			175					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.1978G>A		.	.	.	.	.	.	.	.	.	.	g	21.5	4.157862	0.78114	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.36157	1.27;1.93;1.27;1.27;1.27	5.64	5.64	0.86602	.	0.000000	0.47852	D	0.000210	T	0.52058	0.1711	M	0.74881	2.28	0.43444	D	0.995622	B;B;P;P	0.44521	0.145;0.258;0.837;0.749	B;B;P;B	0.47941	0.14;0.131;0.562;0.359	T	0.55315	-0.8160	10	0.62326	D	0.03	-34.7449	19.706	0.96072	0.0:0.0:1.0:0.0	.	388;659;175;175	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	N	660;659;175;388;175	ENSP00000356209:D660N;ENSP00000402576:D659N;ENSP00000295706:D175N;ENSP00000400379:D388N;ENSP00000272198:D175N	ENSP00000272198:D175N	D	+	1	0	PPFIA4	201291394	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.258000	0.72487	2.649000	0.89929	0.457000	0.33378	GAC		0.657	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		9	43	0	0	0	0.008291	0	9	43				
CCKBR	887	broad.mit.edu	37	11	6292427	6292427	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:6292427G>A	ENST00000334619.2	+	5	1191	c.998G>A	c.(997-999)cGa>cAa	p.R333Q	CCKBR_ENST00000525462.1_Missense_Mutation_p.R402Q|CCKBR_ENST00000532715.1_Missense_Mutation_p.R249Q|CCKBR_ENST00000532396.1_3'UTR	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	333					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CGCGTGGTGCGAATGTTGCTG	0.632																																						ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(1204-1206)cGa>cAa		cholecystokinin B receptor	Pentagastrin(DB00183)						195.0	156.0	169.0					11																	6292427		2201	4296	6497	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6292427G>A	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.998G>A	11.37:g.6292427G>A	ENSP00000335544:p.Arg333Gln					CCKBR_ENST00000532715.1_Missense_Mutation_p.R249Q|CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000334619.2_Missense_Mutation_p.R333Q	p.R402Q			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	1208	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	333					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.1205G>A	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	35	5.522003	0.96416	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.39592	1.07;1.07;1.07	5.38	5.38	0.77491	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.87180	2.865	0.54753	D	0.999985	D;D;D	0.71674	0.986;0.992;0.998	P;P;D	0.65684	0.903;0.843;0.937	T	0.73519	-0.3957	10	0.54805	T	0.06	.	17.7051	0.88306	0.0:0.0:1.0:0.0	.	402;267;333	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	Q	333;249;402	ENSP00000335544:R333Q;ENSP00000432079:R249Q;ENSP00000435534:R402Q	ENSP00000335544:R333Q	R	+	2	0	CCKBR	6249003	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.807000	0.99171	2.513000	0.84729	0.557000	0.71058	CGA		0.632	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		6	37	0	0	0	0.001168	0	6	37				
LINC00922	283867	broad.mit.edu	37	16	65397150	65397150	+	lincRNA	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:65397150G>C	ENST00000569736.1	-	0	530				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1				long intergenic non-protein coding RNA 922																		GAACACAGTAGAGAATGCTGA	0.428																																						ENST00000569736.1																			0																				99.0	94.0	96.0					16																	65397150		1895	4122	6017			283867							g.chr16:65397150G>C	BC037902, BC104446		16q21	2013-05-24			ENSG00000261742	ENSG00000261742		"""Long non-coding RNAs"""	27545	non-coding RNA	RNA, long non-coding							Standard	NR_027755		Approved				OTTHUMG00000172812		16.37:g.65397150G>C						RP11-256I9.3_ENST00000562656.1_lincRNA		NR_027755.1						0	530	-									RNA	SNP	ENST00000569736.1	37																																																																																						0.428	LINC00922-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000420601.2	NR_027755		9	24	0	0	0	0.001368	0	9	24				
VPRBP	9730	broad.mit.edu	37	3	51450829	51450829	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:51450829C>T	ENST00000335891.5	-	13	2605	c.2596G>A	c.(2596-2598)Gca>Aca	p.A866T				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1315	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TCATCATCTGCCTGCAACATA	0.433																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(2596-2598)Gca>Aca		Vpr (HIV-1) binding protein							59.0	57.0	58.0					3																	51450829		1923	4144	6067	SO:0001583	missense	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51450829C>T	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.2596G>A	3.37:g.51450829C>T	ENSP00000338857:p.Ala866Thr						p.A866T			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	13	2605	-			1315			LisH.		Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37	c.2596G>A		.	.	.	.	.	.	.	.	.	.	C	20.1	3.933177	0.73442	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.57107	0.42;0.42	5.36	4.48	0.54585	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.046050	0.85682	D	0.000000	T	0.53818	0.1820	L	0.48642	1.525	0.80722	D	1	P	0.50819	0.939	P	0.48524	0.58	T	0.51434	-0.8706	10	0.30854	T	0.27	-5.4498	16.0582	0.80820	0.0:0.8655:0.1345:0.0	.	1315	Q9Y4B6	VPRBP_HUMAN	T	886;866	ENSP00000393183:A886T;ENSP00000338857:A866T	ENSP00000338857:A866T	A	-	1	0	VPRBP	51425869	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.769000	0.68865	1.259000	0.44117	0.643000	0.83706	GCA		0.433	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		5	8	0	0	0	0.000602	0	5	8				
ACTR5	79913	broad.mit.edu	37	20	37396229	37396229	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:37396229C>T	ENST00000243903.4	+	8	1593	c.1556C>T	c.(1555-1557)tCt>tTt	p.S519F		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	519					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CCCTTCCGGTCTTCTTTTCAG	0.413																																						ENST00000243903.4																			0				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12						c.(1555-1557)tCt>tTt		ARP5 actin-related protein 5 homolog (yeast)							101.0	88.0	92.0					20																	37396229		2203	4300	6503	SO:0001583	missense	79913				DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding	g.chr20:37396229C>T	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1556C>T	20.37:g.37396229C>T	ENSP00000243903:p.Ser519Phe						p.S519F	NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN			8	1593	+		Myeloproliferative disorder(115;0.00878)	519					Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	ENST00000243903.4	37	c.1556C>T	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742221	0.89573	.	.	ENSG00000101442	ENST00000243903	T	0.07908	3.15	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.36552	0.0971	M	0.85041	2.73	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.17349	-1.0372	10	0.87932	D	0	-17.5887	19.832	0.96639	0.0:1.0:0.0:0.0	.	519	Q9H9F9	ARP5_HUMAN	F	519	ENSP00000243903:S519F	ENSP00000243903:S519F	S	+	2	0	ACTR5	36829643	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.059000	0.76684	2.694000	0.91930	0.655000	0.94253	TCT		0.413	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		7	55	0	0	0	0.001984	0	7	55				
SLC10A4	201780	broad.mit.edu	37	4	48487038	48487038	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:48487038C>A	ENST00000273861.4	+	2	899	c.680C>A	c.(679-681)cCt>cAt	p.P227H		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						ATCAACACCCCTATCGTGCAG	0.552																																						ENST00000273861.4																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						c.(679-681)cCt>cAt		solute carrier family 10, member 4							234.0	212.0	220.0					4																	48487038		2203	4300	6503	SO:0001583	missense	201780					integral to membrane	bile acid:sodium symporter activity	g.chr4:48487038C>A	BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"""Solute carriers"""	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.680C>A	4.37:g.48487038C>A	ENSP00000273861:p.Pro227His						p.P227H	NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN			2	899	+			227					Q8WUZ2	Missense_Mutation	SNP	ENST00000273861.4	37	c.680C>A	CCDS3482.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268596	0.80469	.	.	ENSG00000145248	ENST00000273861	T	0.12361	2.69	5.33	5.33	0.75918	.	0.147560	0.64402	D	0.000006	T	0.29491	0.0735	L	0.53249	1.67	0.46901	D	0.999247	P	0.49696	0.927	P	0.55161	0.77	T	0.00265	-1.1865	10	0.56958	D	0.05	-45.3277	19.2279	0.93824	0.0:1.0:0.0:0.0	.	227	Q96EP9	NTCP4_HUMAN	H	227	ENSP00000273861:P227H	ENSP00000273861:P227H	P	+	2	0	SLC10A4	48181795	0.985000	0.35326	0.691000	0.30163	0.664000	0.39144	5.704000	0.68347	2.771000	0.95319	0.563000	0.77884	CCT		0.552	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219926.3	NM_152679		62	126	1	0	6.26901e-30	0.003610	7.63891e-30	62	126				
FSIP2	401024	broad.mit.edu	37	2	186672432	186672432	+	Silent	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:186672432T>C	ENST00000424728.1	+	17	18399	c.18399T>C	c.(18397-18399)taT>taC	p.Y6133Y	FSIP2_ENST00000343098.5_Silent_p.Y6222Y			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6133										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGCAGAGCTATTTTTGTGGAG	0.393																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(18664-18666)taT>taC		fibrous sheath interacting protein 2							98.0	84.0	89.0					2																	186672432		1876	4106	5982	SO:0001819	synonymous_variant	401024							g.chr2:186672432T>C	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18399T>C	2.37:g.186672432T>C						FSIP2_ENST00000424728.1_Silent_p.Y6133Y	p.Y6222Y	NM_173651.2	NP_775922.2					17	18666	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	ENST00000424728.1	37	c.18666T>C																																																																																					0.393	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		5	93	0	0	0	0.000602	0	5	93				
ATXN10	25814	broad.mit.edu	37	22	46088947	46088947	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:46088947C>G	ENST00000252934.5	+	3	645	c.380C>G	c.(379-381)tCt>tGt	p.S127C	ATXN10_ENST00000381061.4_Missense_Mutation_p.S63C|ATXN10_ENST00000498009.1_3'UTR	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	127					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.S127C(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		GAACAGGAATCTCTGTTGACA	0.333																																						ENST00000252934.5																			1	Substitution - Missense(1)	p.S127C(1)	ovary(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10						c.(379-381)tCt>tGt		ataxin 10							146.0	141.0	143.0					22																	46088947		2203	4300	6503	SO:0001583	missense	25814				cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm		g.chr22:46088947C>G	AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"""Ataxins"""	10549	protein-coding gene	gene with protein product		611150	"""spinocerebellar ataxia 10"""	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.380C>G	22.37:g.46088947C>G	ENSP00000252934:p.Ser127Cys					ATXN10_ENST00000381061.4_Missense_Mutation_p.S63C|ATXN10_ENST00000498009.1_3'UTR	p.S127C	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)	3	645	+		Ovarian(80;0.00973)|all_neural(38;0.0417)	127					A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Missense_Mutation	SNP	ENST00000252934.5	37	c.380C>G	CCDS14070.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795108	0.50208	.	.	ENSG00000130638	ENST00000381061;ENST00000252934;ENST00000396011	T;T	0.52526	0.66;0.66	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.993388	0.08190	N	0.984096	T	0.38639	0.1048	N	0.14661	0.345	0.09310	N	1	D;P	0.56746	0.977;0.949	P;B	0.46076	0.503;0.401	T	0.23976	-1.0173	10	0.56958	D	0.05	-14.9884	10.8023	0.46495	0.0:0.9141:0.0:0.0859	.	63;127	A6NLC4;Q9UBB4	.;ATX10_HUMAN	C	63;127;127	ENSP00000370449:S63C;ENSP00000252934:S127C	ENSP00000252934:S127C	S	+	2	0	ATXN10	44467611	0.009000	0.17119	0.056000	0.19401	0.888000	0.51559	2.028000	0.41088	2.690000	0.91761	0.655000	0.94253	TCT		0.333	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	NM_013236		8	27	0	0	0	0.004482	0	8	27				
FRG1B	284802	broad.mit.edu	37	20	29625980	29625980	+	Missense_Mutation	SNP	A	A	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:29625980A>C	ENST00000278882.3	+	5	604	c.224A>C	c.(223-225)cAa>cCa	p.Q75P	FRG1B_ENST00000358464.4_Missense_Mutation_p.Q75P|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q80P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	75										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CCAGTCTTTCAAAATGTAAGT	0.328																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(223-225)cAa>cCa																																						SO:0001583	missense	284802							g.chr20:29625980A>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.224A>C	20.37:g.29625980A>C	ENSP00000278882:p.Gln75Pro					FRG1B_ENST00000358464.4_Missense_Mutation_p.Q75P|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q80P	p.Q75P							5	604	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.224A>C		.	.	.	.	.	.	.	.	.	.	a	12.09	1.833382	0.32421	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	1.68	1.68	0.24146	.	0.193253	0.45361	D	0.000362	T	0.53674	0.1811	.	.	.	0.45439	D	0.998415	P	0.37158	0.585	P	0.53593	0.73	T	0.48559	-0.9025	9	0.32370	T	0.25	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	80	F5H5R5	.	P	75;80;75	ENSP00000408863:Q80P	ENSP00000278882:Q75P	Q	+	2	0	FRG1B	28239641	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	CAA		0.328	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	61	0	0	0	0.003080	0	6	61				
CCDC158	339965	broad.mit.edu	37	4	77300534	77300534	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:77300534G>A	ENST00000388914.3	-	8	1090	c.938C>T	c.(937-939)tCt>tTt	p.S313F	CCDC158_ENST00000434846.2_Missense_Mutation_p.S313F	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	313										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CATATACATAGAGTTTTGGTT	0.383																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(937-939)tCt>tTt		coiled-coil domain containing 158							130.0	120.0	123.0					4																	77300534		1864	4097	5961	SO:0001583	missense	339965							g.chr4:77300534G>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.938C>T	4.37:g.77300534G>A	ENSP00000373566:p.Ser313Phe					CCDC158_ENST00000434846.2_Missense_Mutation_p.S313F	p.S313F	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			8	1090	-			313					Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.938C>T	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972089	0.53614	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	T;T	0.78816	-1.21;0.58	5.35	5.35	0.76521	.	0.152222	0.30989	N	0.008467	T	0.77805	0.4185	N	0.19112	0.55	0.35597	D	0.807538	D;P	0.57571	0.98;0.937	P;P	0.58331	0.837;0.777	D	0.84316	0.0513	10	0.66056	D	0.02	.	15.9979	0.80265	0.0:0.0:1.0:0.0	.	313;313	Q5M9N0-3;Q5M9N0	.;CD158_HUMAN	F	313	ENSP00000373566:S313F;ENSP00000401742:S313F	ENSP00000316815:S313F	S	-	2	0	CCDC158	77519558	1.000000	0.71417	0.964000	0.40570	0.074000	0.17049	4.885000	0.63142	2.500000	0.84329	0.650000	0.86243	TCT		0.383	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		10	41	0	0	0	0.001855	0	10	41				
DIRAS2	54769	broad.mit.edu	37	9	93375945	93375945	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:93375945G>A	ENST00000375765.3	-	2	553	c.165C>T	c.(163-165)tgC>tgT	p.C55C		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	55					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TCTGCAATGTGCATATGCTCT	0.567																																						ENST00000375765.3																			0				kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						c.(163-165)tgC>tgT		DIRAS family, GTP-binding RAS-like 2							187.0	151.0	163.0					9																	93375945		2203	4300	6503	SO:0001819	synonymous_variant	54769				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr9:93375945G>A	AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.165C>T	9.37:g.93375945G>A							p.C55C	NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN			2	553	-			55					B3KVM2	Silent	SNP	ENST00000375765.3	37	c.165C>T	CCDS6687.1																																																																																				0.567	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1			73	23	0	0	0	0.003610	0	73	23				
RP1	6101	broad.mit.edu	37	8	55542523	55542523	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:55542523T>A	ENST00000220676.1	+	4	6229	c.6081T>A	c.(6079-6081)gaT>gaA	p.D2027E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2027					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTCAACCAGATTTGAAGGAAA	0.338																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(6079-6081)gaT>gaA		retinitis pigmentosa 1 (autosomal dominant)							82.0	87.0	85.0					8																	55542523		2202	4299	6501	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542523T>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6081T>A	8.37:g.55542523T>A	ENSP00000220676:p.Asp2027Glu						p.D2027E	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	6229	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	2027						Missense_Mutation	SNP	ENST00000220676.1	37	c.6081T>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	3.034	-0.199086	0.06219	.	.	ENSG00000104237	ENST00000220676	T	0.20069	2.1	5.82	1.96	0.26148	.	0.442134	0.19270	N	0.118438	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	B	0.23185	0.081	B	0.16289	0.015	T	0.30794	-0.9966	10	0.23891	T	0.37	.	5.0266	0.14389	0.0:0.2249:0.1449:0.6302	.	2027	P56715	RP1_HUMAN	E	2027	ENSP00000220676:D2027E	ENSP00000220676:D2027E	D	+	3	2	RP1	55705076	0.014000	0.17966	0.463000	0.27130	0.017000	0.09413	0.797000	0.26999	0.472000	0.27344	0.482000	0.46254	GAT		0.338	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		26	119	0	0	0	0.005443	0	26	119				
CCPG1	9236	broad.mit.edu	37	15	55677908	55677908	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:55677908G>T	ENST00000310958.6	-	3	363	c.65C>A	c.(64-66)tCa>tAa	p.S22*	CCPG1_ENST00000425574.3_Nonsense_Mutation_p.S22*|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.S22*|CCPG1_ENST00000569205.1_Nonsense_Mutation_p.S22*	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	22	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCTATATCTGACCCCTAAGG	0.403																																						ENST00000310958.6																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(64-66)tCa>tAa		cell cycle progression 1							38.0	38.0	38.0					15																	55677908		1829	4081	5910	SO:0001587	stop_gained	9236				cell cycle	integral to membrane		g.chr15:55677908G>T	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.65C>A	15.37:g.55677908G>T	ENSP00000311656:p.Ser22*					CCPG1_ENST00000425574.3_Nonsense_Mutation_p.S22*|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.S22*|CCPG1_ENST00000569205.1_Nonsense_Mutation_p.S22*	p.S22*	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	3	363	-			22			Interaction with MCF2L and SRC (By similarity).		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Nonsense_Mutation	SNP	ENST00000310958.6	37	c.65C>A	CCDS42039.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.38|15.38	2.816901|2.816901	0.50633|0.50633	.|.	.|.	ENSG00000256061|ENSG00000256061	ENST00000420792|ENST00000310958;ENST00000442196;ENST00000425574	.|.	.|.	.|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|0.122181	.|0.56097	.|D	.|0.000022	T|.	0.35335|.	0.0928|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30966|.	-0.9960|.	4|.	0.87932|0.02654	D|T	0|1	.|.	14.5379|14.5379	0.67973|0.67973	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	K|X	323|22	.|.	ENSP00000392005:Q323K|ENSP00000311656:S22X	Q|S	-|-	1|2	0|0	DYX1C1|DYX1C1	53465200|53465200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.103000|0.103000	0.19146|0.19146	4.320000|4.320000	0.59203|0.59203	2.561000|2.561000	0.86390|0.86390	0.644000|0.644000	0.83932|0.83932	CAG|TCA		0.403	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		9	14	1	0	1.12685e-05	0.004482	1.23578e-05	9	14				
FLG	2312	broad.mit.edu	37	1	152283117	152283117	+	Silent	SNP	T	T	C	rs150981235	byFrequency	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:152283117T>C	ENST00000368799.1	-	3	4280	c.4245A>G	c.(4243-4245)caA>caG	p.Q1415Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1415	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGCCCAGCTTGTCCGTGGG	0.562									Ichthyosis				t|||	2	0.000399361	0.0008	0.0	5008	,	,		21257	0.001		0.0	False		,,,				2504	0.0					ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4243-4245)caA>caG		filaggrin		T		4,4402	8.1+/-20.4	0,4,2199	234.0	230.0	231.0		4245	-4.6	0.0	1	dbSNP_134	231	0,8600		0,0,4300	no	coding-synonymous	FLG	NM_002016.1		0,4,6499	CC,CT,TT		0.0,0.0908,0.0308		1415/4062	152283117	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283117T>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4245A>G	1.37:g.152283117T>C						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.Q1415Q	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4280	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1415			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.4245A>G	CCDS30860.1																																																																																				0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		10	247	0	0	0	0.004990	0	10	247				
URB2	9816	broad.mit.edu	37	1	229770966	229770966	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:229770966C>T	ENST00000258243.2	+	4	742	c.606C>T	c.(604-606)ctC>ctT	p.L202L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	202						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTCACCTGCTCCAGCCGTGCC	0.607																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(604-606)ctC>ctT		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							64.0	61.0	62.0					1																	229770966		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229770966C>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.606C>T	1.37:g.229770966C>T							p.L202L	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	742	+			202					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.606C>T	CCDS31052.1																																																																																				0.607	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		8	61	0	0	0	0.006214	0	8	61				
MKLN1	4289	broad.mit.edu	37	7	131122674	131122674	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:131122674A>T	ENST00000352689.6	+	10	1131	c.1091A>T	c.(1090-1092)tAt>tTt	p.Y364F	MKLN1_ENST00000421797.2_Missense_Mutation_p.Y272F	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	364					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TTCTATCGTTATGACATTGAT	0.413																																						ENST00000352689.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(1090-1092)tAt>tTt		muskelin 1, intracellular mediator containing kelch motifs							225.0	215.0	219.0					7																	131122674		2203	4300	6503	SO:0001583	missense	4289				signal transduction	cytoplasm	protein binding	g.chr7:131122674A>T	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1091A>T	7.37:g.131122674A>T	ENSP00000323527:p.Tyr364Phe					MKLN1_ENST00000421797.2_Missense_Mutation_p.Y272F	p.Y364F	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			10	1131	+	Melanoma(18;0.162)		364					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	c.1091A>T	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.936703	0.92458	.	.	ENSG00000128585	ENST00000421797;ENST00000352689	T;T	0.73363	-0.74;-0.74	5.83	5.83	0.93111	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.82440	0.5037	L	0.54863	1.705	0.80722	D	1	P;D;D	0.76494	0.937;0.999;0.999	P;D;D	0.80764	0.523;0.994;0.994	T	0.79888	-0.1613	10	0.27082	T	0.32	-17.8753	15.3799	0.74648	1.0:0.0:0.0:0.0	.	364;341;272	Q9UL63;B4DG30;C9J7E8	MKLN1_HUMAN;.;.	F	272;364	ENSP00000398094:Y272F;ENSP00000323527:Y364F	ENSP00000323527:Y364F	Y	+	2	0	MKLN1	130773214	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	9.339000	0.96797	2.230000	0.72887	0.454000	0.30748	TAT		0.413	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		56	75	0	0	0	0.003610	0	56	75				
CASR	846	broad.mit.edu	37	3	122003858	122003858	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:122003858G>A	ENST00000490131.1	+	7	3429	c.3057G>A	c.(3055-3057)ggG>ggA	p.G1019G	CASR_ENST00000498619.1_Silent_p.G1029G|CASR_ENST00000296154.5_Silent_p.G1019G	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	1019					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGCAGTGCGGGGAAACGGACT	0.602																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(3085-3087)ggG>ggA		calcium-sensing receptor	Cinacalcet(DB01012)						54.0	58.0	56.0					3																	122003858		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003858G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.3057G>A	3.37:g.122003858G>A						CASR_ENST00000296154.5_Silent_p.G1019G|CASR_ENST00000490131.1_Silent_p.G1019G	p.G1029G	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3525	+			1019					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.3087G>A	CCDS3010.1																																																																																				0.602	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		13	58	0	0	0	0.002450	0	13	58				
KIAA1377	57562	broad.mit.edu	37	11	101832997	101832997	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:101832997G>A	ENST00000263468.8	+	6	1501	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	KIAA1377_ENST00000537689.1_Missense_Mutation_p.E212K	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	411										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATTAGTTACTGAGAGCCCAAC	0.378																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(1231-1233)Gag>Aag		KIAA1377							60.0	63.0	62.0					11																	101832997		2203	4298	6501	SO:0001583	missense	57562						protein binding	g.chr11:101832997G>A	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1231G>A	11.37:g.101832997G>A	ENSP00000263468:p.Glu411Lys					KIAA1377_ENST00000537689.1_Missense_Mutation_p.E212K	p.E411K	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	1501	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	411					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.1231G>A	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	4.956	0.177671	0.09443	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.07688	3.17;3.17	5.15	2.24	0.28232	.	0.490245	0.20439	N	0.092301	T	0.09291	0.0229	M	0.65975	2.015	0.09310	N	1	B	0.27351	0.176	B	0.24541	0.054	T	0.22556	-1.0213	10	0.38643	T	0.18	-1.9567	6.5608	0.22485	0.16:0.1471:0.6929:0.0	.	411	Q9P2H0	K1377_HUMAN	K	411;212	ENSP00000263468:E411K;ENSP00000443184:E212K	ENSP00000263468:E411K	E	+	1	0	KIAA1377	101338207	0.734000	0.28142	0.092000	0.20876	0.191000	0.23601	1.091000	0.30915	0.268000	0.21939	-0.176000	0.13171	GAG		0.378	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		8	174	0	0	0	0.006214	0	8	174				
VWF	7450	broad.mit.edu	37	12	6128892	6128892	+	Missense_Mutation	SNP	T	T	G	rs61749368	byFrequency	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:6128892T>G	ENST00000261405.5	-	28	3946	c.3692A>C	c.(3691-3693)aAc>aCc	p.N1231T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1231					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACAGGTGAGGTTGACAACATC	0.542													T|||	25	0.00499201	0.0113	0.0029	5008	,	,		19607	0.003		0.001	False		,,,				2504	0.0041					ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(3691-3693)aAc>aCc		von Willebrand factor	Antihemophilic Factor(DB00025)						13.0	16.0	15.0					12																	6128892		2201	4292	6493	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6128892T>G		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.3692A>C	12.37:g.6128892T>G	ENSP00000261405:p.Asn1231Thr						p.N1231T	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			28	3946	-			1231					Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.3692A>C	CCDS8539.1	8	0.003663003663003663	6	0.012195121951219513	0	0.0	2	0.0034965034965034965	0	0.0	.	11.77	1.736361	0.30774	.	.	ENSG00000110799	ENST00000261405	T	0.35789	1.29	4.94	2.59	0.31030	.	0.135413	0.33959	N	0.004386	T	0.22085	0.0532	L	0.55213	1.73	0.80722	D	1	B	0.16802	0.019	B	0.17979	0.02	T	0.05241	-1.0897	10	0.22706	T	0.39	.	8.2423	0.31667	0.0:0.1634:0.0:0.8366	rs61749368	1231	P04275	VWF_HUMAN	T	1231	ENSP00000261405:N1231T	ENSP00000261405:N1231T	N	-	2	0	VWF	5999153	1.000000	0.71417	0.910000	0.35882	0.800000	0.45204	2.450000	0.44943	0.383000	0.24910	0.454000	0.30748	AAC		0.542	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		4	19	0	0	0	0.001168	0	4	19				
IGHV4-4	28401	broad.mit.edu	37	14	106478275	106478275	+	RNA	SNP	C	C	T	rs575115406	byFrequency	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:106478275C>T	ENST00000390596.2	-	0	246									immunoglobulin heavy variable 4-4																		CCAGTCCCTTCCCGGCGGGCT	0.577													.|||	3	0.000599042	0.0008	0.0	5008	,	,		5400	0.0		0.001	False		,,,				2504	0.001					ENST00000390596.2																			0																				126.0	85.0	100.0					14																	106478275		1841	3265	5106			28401							g.chr14:106478275C>T	X62112		14q32.33	2012-02-08			ENSG00000211936	ENSG00000276775		"""Immunoglobulins / IGH locus"""	5652	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152322		14.37:g.106478275C>T														0	246	-									RNA	SNP	ENST00000390596.2	37																																																																																						0.577	IGHV4-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325884.1	NG_001019		17	203	0	0	0	0.004007	0	17	203				
VPS13C	54832	broad.mit.edu	37	15	62254026	62254026	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:62254026T>C	ENST00000261517.5	-	35	3743	c.3670A>G	c.(3670-3672)Agg>Ggg	p.R1224G	VPS13C_ENST00000395898.3_Missense_Mutation_p.R1181G|VPS13C_ENST00000249837.3_Missense_Mutation_p.R1181G|VPS13C_ENST00000395896.4_Missense_Mutation_p.R1224G	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GTGGCAGCCCTTTCTGCAGCC	0.438																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3670-3672)Agg>Ggg		vacuolar protein sorting 13 homolog C (S. cerevisiae)							62.0	63.0	63.0					15																	62254026		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62254026T>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3670A>G	15.37:g.62254026T>C	ENSP00000261517:p.Arg1224Gly					VPS13C_ENST00000395898.3_Missense_Mutation_p.R1181G|VPS13C_ENST00000395896.4_Missense_Mutation_p.R1224G|VPS13C_ENST00000249837.3_Missense_Mutation_p.R1181G	p.R1224G	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			35	3743	-			1224						Missense_Mutation	SNP	ENST00000261517.5	37	c.3670A>G	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.513777	0.44763	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.13778	2.56;2.56;2.56	5.66	4.5	0.54988	.	0.155706	0.43919	D	0.000519	T	0.13970	0.0338	L	0.42245	1.32	0.26679	N	0.971587	B;B;B;B	0.28713	0.082;0.178;0.178;0.22	B;B;B;B	0.29785	0.049;0.049;0.107;0.05	T	0.12192	-1.0557	10	0.72032	D	0.01	.	11.5409	0.50665	0.0:0.0:0.2851:0.7149	.	1181;1224;1181;1224	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	G	1181;1224;1224;1224	ENSP00000249837:R1181G;ENSP00000261517:R1224G;ENSP00000379233:R1224G	ENSP00000249837:R1181G	R	-	1	2	VPS13C	60041318	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.488000	0.45276	0.914000	0.36822	0.460000	0.39030	AGG		0.438	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		19	54	0	0	0	0.008871	0	19	54				
OR2T12	127064	broad.mit.edu	37	1	248458195	248458195	+	Missense_Mutation	SNP	G	G	T	rs549916777		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:248458195G>T	ENST00000317996.1	-	1	685	c.686C>A	c.(685-687)aCa>aAa	p.T229K		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCGGGCTTCTGTAGAGCGCAT	0.517													N|||	1	0.000199681	0.0	0.0	5008	,	,		21072	0.0		0.0	False		,,,				2504	0.001					ENST00000317996.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(685-687)aCa>aAa		olfactory receptor, family 2, subfamily T, member 12							112.0	103.0	106.0					1																	248458195		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458195G>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.686C>A	1.37:g.248458195G>T	ENSP00000324583:p.Thr229Lys						p.T229K	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	685	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		229						Missense_Mutation	SNP	ENST00000317996.1	37	c.686C>A	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	g	10.04	1.242662	0.22796	.	.	ENSG00000177201	ENST00000317996	T	0.00084	8.75	1.55	0.457	0.16661	GPCR, rhodopsin-like superfamily (1);	0.216274	0.23025	U	0.052819	T	0.00144	0.0004	L	0.43152	1.355	0.09310	N	1	B	0.17038	0.02	B	0.21151	0.033	T	0.31833	-0.9929	10	0.46703	T	0.11	.	7.7581	0.28936	0.0:0.0:0.5645:0.4355	.	229	Q8NG77	O2T12_HUMAN	K	229	ENSP00000324583:T229K	ENSP00000324583:T229K	T	-	2	0	OR2T12	246524818	0.000000	0.05858	0.030000	0.17652	0.557000	0.35523	-0.810000	0.04505	-0.328000	0.08539	0.175000	0.17021	ACA		0.517	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		16	60	1	0	2.35188e-11	0.006122	2.75363e-11	16	60				
CD163	9332	broad.mit.edu	37	12	7649555	7649555	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:7649555C>G	ENST00000359156.4	-	5	1155	c.953G>C	c.(952-954)cGa>cCa	p.R318P	CD163_ENST00000396620.3_Missense_Mutation_p.R318P|CD163_ENST00000541972.1_Missense_Mutation_p.R306P|CD163_ENST00000432237.2_Missense_Mutation_p.R318P	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	318	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GGCGTTAACTCGACCAATGGC	0.517																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(952-954)cGa>cCa		CD163 molecule							141.0	96.0	111.0					12																	7649555		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7649555C>G	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.953G>C	12.37:g.7649555C>G	ENSP00000352071:p.Arg318Pro					CD163_ENST00000396620.3_Missense_Mutation_p.R318P|CD163_ENST00000432237.2_Missense_Mutation_p.R318P|CD163_ENST00000541972.1_Missense_Mutation_p.R306P	p.R318P	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			5	1155	-			318			SRCR 3.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.953G>C	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	6.657	0.489697	0.12702	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.03	3.03	0.35002	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.989056	0.08225	N	0.978557	T	0.47857	0.1468	L	0.45581	1.43	0.09310	N	1	D;D;D	0.89917	1.0;0.968;1.0	D;P;D	0.72338	0.977;0.706;0.977	T	0.28808	-1.0032	10	0.28530	T	0.3	.	5.5454	0.17061	0.3571:0.5503:0.0:0.0926	.	318;318;318	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	P	318;306;318;318	ENSP00000352071:R318P;ENSP00000444071:R306P;ENSP00000379863:R318P;ENSP00000403885:R318P	ENSP00000352071:R318P	R	-	2	0	CD163	7540822	0.000000	0.05858	0.018000	0.16275	0.112000	0.19704	-1.103000	0.03329	1.233000	0.43693	0.561000	0.74099	CGA		0.517	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		35	34	0	0	0	0.012213	0	35	34				
PARL	55486	broad.mit.edu	37	3	183560190	183560190	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:183560190G>A	ENST00000317096.4	-	6	713	c.653C>T	c.(652-654)tCc>tTc	p.S218F	PARL_ENST00000311101.5_Intron|PARL_ENST00000435888.1_Intron	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	218					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTGAAATAAGGAGAAATGACT	0.398																																						ENST00000317096.4																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(652-654)tCc>tTc		presenilin associated, rhomboid-like							107.0	102.0	104.0					3																	183560190		2203	4300	6503	SO:0001583	missense	55486				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	g.chr3:183560190G>A	AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"""rhomboid 7 homolog 1 (Drosophila)"""	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.653C>T	3.37:g.183560190G>A	ENSP00000325421:p.Ser218Phe					PARL_ENST00000435888.1_Intron|PARL_ENST00000311101.5_Intron	p.S218F	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		6	713	-	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		218					Q96CQ4|Q9BTJ6|Q9P1E3	Missense_Mutation	SNP	ENST00000317096.4	37	c.653C>T	CCDS3248.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687201	0.88639	.	.	ENSG00000175193	ENST00000317096	T	0.17054	2.3	5.32	5.32	0.75619	Peptidase S54, rhomboid domain (1);	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	M	0.91717	3.235	0.80722	D	1	D	0.63046	0.992	D	0.72338	0.977	T	0.63589	-0.6603	10	0.87932	D	0	-9.9727	19.3625	0.94446	0.0:0.0:1.0:0.0	.	218	Q9H300	PARL_HUMAN	F	218	ENSP00000325421:S218F	ENSP00000325421:S218F	S	-	2	0	PARL	185042884	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.776000	0.99001	2.653000	0.90120	0.655000	0.94253	TCC		0.398	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		21	87	0	0	0	0.008871	0	21	87				
FAM135B	51059	broad.mit.edu	37	8	139263195	139263195	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:139263195G>A	ENST00000395297.1	-	6	601	c.431C>T	c.(430-432)cCc>cTc	p.P144L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	144										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCATTCCGGGGGTGGAAGTG	0.597										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(430-432)cCc>cTc		family with sequence similarity 135, member B							126.0	141.0	136.0					8																	139263195		2146	4233	6379	SO:0001583	missense	51059							g.chr8:139263195G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.431C>T	8.37:g.139263195G>A	ENSP00000378710:p.Pro144Leu	HNSCC(54;0.14)					p.P144L	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		6	601	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		144					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.431C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743189	0.69418	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.16597	2.33	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.35653	0.0939	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01156	-1.1434	10	0.21540	T	0.41	-21.6412	18.6232	0.91328	0.0:0.0:1.0:0.0	.	144	Q49AJ0	F135B_HUMAN	L	144	ENSP00000378710:P144L	ENSP00000160713:P144L	P	-	2	0	FAM135B	139332377	1.000000	0.71417	0.971000	0.41717	0.270000	0.26580	9.869000	0.99810	2.656000	0.90262	0.655000	0.94253	CCC		0.597	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		12	134	0	0	0	0.002450	0	12	134				
ABCC9	10060	broad.mit.edu	37	12	21998701	21998701	+	Missense_Mutation	SNP	G	G	T	rs376874273		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:21998701G>T	ENST00000261201.4	-	24	2931	c.2932C>A	c.(2932-2934)Cca>Aca	p.P978T	ABCC9_ENST00000345162.2_Missense_Mutation_p.P942T|ABCC9_ENST00000261200.4_Missense_Mutation_p.P978T|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	978					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GTTTTCCATGGCATTTTAGTC	0.418																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(2932-2934)Cca>Aca		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	G	THR/PRO,THR/PRO	0,4406		0,0,2203	162.0	125.0	138.0		2932,2932	5.3	1.0	12		138	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ABCC9	NM_005691.2,NM_020297.2	38,38	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	978/1550,978/1550	21998701	1,13005	2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21998701G>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2932C>A	12.37:g.21998701G>T	ENSP00000261201:p.Pro978Thr					RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.P942T|ABCC9_ENST00000261201.4_Missense_Mutation_p.P978T	p.P978T	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			24	2931	-			978					O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.2932C>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367059	0.82463	0.0	1.16E-4	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.91996	-2.93;-2.79;-2.95;-2.92	5.28	5.28	0.74379	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.93752	0.8003	M	0.71581	2.175	0.80722	D	1	P;P	0.51449	0.945;0.813	P;P	0.49752	0.621;0.467	D	0.93973	0.7251	10	0.59425	D	0.04	-13.3169	19.1181	0.93350	0.0:0.0:1.0:0.0	.	978;978	O60706;O60706-2	ABCC9_HUMAN;.	T	978;605;978;942	ENSP00000261200:P978T;ENSP00000440521:P605T;ENSP00000261201:P978T;ENSP00000261202:P942T	ENSP00000261200:P978T	P	-	1	0	ABCC9	21889968	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.095000	0.94175	2.756000	0.94617	0.655000	0.94253	CCA		0.418	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		9	46	1	0	3.09899e-07	0.004482	3.49166e-07	9	46				
DUOX1	53905	broad.mit.edu	37	15	45455880	45455880	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:45455880A>G	ENST00000321429.4	+	33	4806	c.4399A>G	c.(4399-4401)Atg>Gtg	p.M1467V	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.M1113V|DUOX1_ENST00000389037.3_Missense_Mutation_p.M1467V	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1467					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGGACCACTATGCTGGTATG	0.562											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(4399-4401)Atg>Gtg		dual oxidase 1							130.0	117.0	121.0					15																	45455880		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45455880A>G	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4399A>G	15.37:g.45455880A>G	ENSP00000317997:p.Met1467Val		OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	DUOX1_ENST00000389037.3_Missense_Mutation_p.M1467V|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.M1113V	p.M1467V	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	33	4806	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1467					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.4399A>G	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.642531	0.67244	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.94687	-3.49;-3.49	4.36	4.36	0.52297	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.94879	0.8345	L	0.52823	1.66	0.80722	D	1	P	0.49559	0.925	P	0.56648	0.803	D	0.94728	0.7907	10	0.59425	D	0.04	-32.9821	11.5633	0.50790	1.0:0.0:0.0:0.0	.	1467	Q9NRD9	DUOX1_HUMAN	V	1467	ENSP00000317997:M1467V;ENSP00000373689:M1467V	ENSP00000317997:M1467V	M	+	1	0	DUOX1	43243172	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	7.295000	0.78780	1.820000	0.53075	0.402000	0.26972	ATG		0.562	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		11	69	0	0	0	0.001368	0	11	69				
ASTE1	28990	broad.mit.edu	37	3	130743229	130743229	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:130743229C>G	ENST00000264992.3	-	3	1363	c.922G>C	c.(922-924)Gac>Cac	p.D308H	NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000356918.4_5'Flank|NEK11_ENST00000511262.1_5'Flank|NEK11_ENST00000429253.2_5'Flank|ASTE1_ENST00000514044.1_Missense_Mutation_p.D308H|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000510688.1_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	308					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TGGAAGAAGTCCTGTAGCTTC	0.423																																						ENST00000264992.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(922-924)Gac>Cac		asteroid homolog 1 (Drosophila)							130.0	126.0	127.0					3																	130743229		2203	4300	6503	SO:0001583	missense	28990				DNA repair		nuclease activity	g.chr3:130743229C>G	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.922G>C	3.37:g.130743229C>G	ENSP00000264992:p.Asp308His					ASTE1_ENST00000514044.1_Missense_Mutation_p.D308H	p.D308H	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN			3	1363	-			308					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	c.922G>C	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272493	0.40194	.	.	ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270	.	.	.	5.64	5.64	0.86602	.	0.253129	0.45606	D	0.000345	T	0.49304	0.1549	L	0.38175	1.15	0.44330	D	0.997214	B;B	0.28801	0.223;0.134	B;B	0.29598	0.104;0.073	T	0.43426	-0.9392	9	0.35671	T	0.21	-23.088	15.2285	0.73369	0.0:0.86:0.14:0.0	.	308;308	D6RG30;Q2TB18	.;ASTE1_HUMAN	H	308	.	ENSP00000264992:D308H	D	-	1	0	ASTE1	132225919	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.245000	0.43133	2.661000	0.90470	0.561000	0.74099	GAC		0.423	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		7	79	0	0	0	0.001984	0	7	79				
BAGE2	85319	broad.mit.edu	37	21	11058206	11058206	+	RNA	SNP	T	T	C	rs543360108		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr21:11058206T>C	ENST00000470054.1	-	0	441							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGCAGGAAGATGTGACTGAAA	0.408													t|||	1	0.000199681	0.0008	0.0	5008	,	,		42952	0.0		0.0	False		,,,				2504	0.0					ENST00000470054.1																			0													B melanoma antigen family, member 2							90.0	73.0	78.0					21																	11058206		692	1591	2283			85319							g.chr21:11058206T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058206T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	441	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.408	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	55	0	0	0	0.003080	0	3	55				
PRRC2A	7916	broad.mit.edu	37	6	31598493	31598493	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:31598493G>C	ENST00000376033.2	+	15	2614	c.2380G>C	c.(2380-2382)Gat>Cat	p.D794H	PRRC2A_ENST00000376007.4_Missense_Mutation_p.D794H	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	794	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTGGGTAGGAGATGTCTTCAC	0.597																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(2380-2382)Gat>Cat		proline-rich coiled-coil 2A							84.0	73.0	77.0					6																	31598493		2203	4300	6503	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31598493G>C	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2380G>C	6.37:g.31598493G>C	ENSP00000365201:p.Asp794His					PRRC2A_ENST00000376007.4_Missense_Mutation_p.D794H	p.D794H	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			15	2614	+			794			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.2380G>C	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733458	0.48939	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.08546	3.08;3.08	5.08	5.08	0.68730	.	0.000000	0.56097	D	0.000035	T	0.11495	0.0280	N	0.24115	0.695	0.58432	D	0.999998	D	0.89917	1.0	D	0.70716	0.97	T	0.11470	-1.0586	10	0.87932	D	0	-12.2422	17.4073	0.87477	0.0:0.0:1.0:0.0	.	794	P48634	PRC2A_HUMAN	H	794;783;794;794;19	ENSP00000365175:D794H;ENSP00000365201:D794H	ENSP00000365175:D794H	D	+	1	0	PRRC2A	31706472	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.767000	0.85331	2.652000	0.90054	0.655000	0.94253	GAT		0.597	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		15	30	0	0	0	0.003163	0	15	30				
ALDH3B1	221	broad.mit.edu	37	11	67789312	67789312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:67789312C>T	ENST00000539229.1	+	9	1032	c.916C>T	c.(916-918)Cag>Tag	p.Q306*	ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000342456.6_Nonsense_Mutation_p.Q270*|ALDH3B1_ENST00000007633.8_Nonsense_Mutation_p.Q306*|ALDH3B1_ENST00000434449.1_3'UTR|RP5-901A4.1_ENST00000532296.1_RNA	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	308					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										CATTGGGGGCCAGAGCGATGA	0.662																																						ENST00000539229.1																			0											c.(916-918)Cag>Tag		aldehyde dehydrogenase 3 family, member B1	NADH(DB00157)						40.0	45.0	43.0					11																	67789312		2200	4293	6493	SO:0001587	stop_gained	221				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67789312C>T	U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.916C>T	11.37:g.67789312C>T	ENSP00000474034:p.Gln306*					ALDH3B1_ENST00000007633.8_Nonsense_Mutation_p.Q306*|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000342456.6_Nonsense_Mutation_p.Q270*	p.Q306*	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN			9	1032	+			308					A3FMP9|Q53XL5|Q8N515|Q96CK8	Nonsense_Mutation	SNP	ENST00000539229.1	37	c.916C>T																																																																																					0.662	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000694		13	37	0	0	0	0.001368	0	13	37				
TREML1	340205	broad.mit.edu	37	6	41119090	41119090	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:41119090G>C	ENST00000426005.2	-	3	452	c.409C>G	c.(409-411)Ctg>Gtg	p.L137V	TREML1_ENST00000437044.2_Missense_Mutation_p.L26V|TREML1_ENST00000373127.4_Missense_Mutation_p.L137V	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	137					calcium-mediated signaling (GO:0019722)|innate immune response (GO:0045087)|platelet activation (GO:0030168)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTCTCAGCCAGACTGCCAATC	0.517																																						ENST00000373127.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13						c.(409-411)Ctg>Gtg		triggering receptor expressed on myeloid cells-like 1							127.0	114.0	118.0					6																	41119090		2203	4300	6503	SO:0001583	missense	340205				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity	g.chr6:41119090G>C	AF534822	CCDS4851.1, CCDS64420.1, CCDS64421.1	6p21.1	2013-01-11			ENSG00000161911	ENSG00000161911		"""Immunoglobulin superfamily / V-set domain containing"""	20434	protein-coding gene	gene with protein product	"""TREM-like transcript 1"""	609714				12393607, 12645956	Standard	NM_178174		Approved	TLT1, dJ238O23.3	uc011duc.3	Q86YW5	OTTHUMG00000016231	ENST00000426005.2:c.409C>G	6.37:g.41119090G>C	ENSP00000402855:p.Leu137Val					TREML1_ENST00000437044.2_Missense_Mutation_p.L26V|TREML1_ENST00000426005.2_Missense_Mutation_p.L137V	p.L137V	NM_001271807.1	NP_001258736.1	Q86YW5	TRML1_HUMAN			3	457	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		137					Q496B3|Q8IWY1|Q8IWY2	Missense_Mutation	SNP	ENST00000426005.2	37	c.409C>G	CCDS4851.1	.	.	.	.	.	.	.	.	.	.	G	8.945	0.966820	0.18659	.	.	ENSG00000161911	ENST00000373127;ENST00000437044;ENST00000426005	T;T;T	0.56941	1.59;0.43;1.7	4.75	1.86	0.25419	.	1.113010	0.06917	N	0.808710	T	0.22975	0.0555	L	0.54323	1.7	0.09310	N	1	B;B;B	0.24721	0.035;0.024;0.11	B;B;B	0.23419	0.019;0.012;0.046	T	0.25606	-1.0127	10	0.17832	T	0.49	.	6.3677	0.21463	0.1033:0.4109:0.4857:0.0	.	26;137;137	Q86YW5-3;Q86YW5;Q86YW5-2	.;TRML1_HUMAN;.	V	137;26;137	ENSP00000362219:L137V;ENSP00000400405:L26V;ENSP00000402855:L137V	ENSP00000362219:L137V	L	-	1	2	TREML1	41227068	0.000000	0.05858	0.010000	0.14722	0.084000	0.17831	-0.115000	0.10741	0.653000	0.30826	0.650000	0.86243	CTG		0.517	TREML1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043538.2	NM_178174		16	52	0	0	0	0.004007	0	16	52				
ARHGAP18	93663	broad.mit.edu	37	6	129959657	129959657	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:129959657G>T	ENST00000368149.2	-	3	522	c.434C>A	c.(433-435)gCa>gAa	p.A145E		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		AACTGCTGCTGCCTGGGTCCG	0.478																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(433-435)gCa>gAa		Rho GTPase activating protein 18							168.0	169.0	169.0					6																	129959657		2203	4300	6503	SO:0001583	missense	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959657G>T	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.434C>A	6.37:g.129959657G>T	ENSP00000357131:p.Ala145Glu						p.A145E	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	522	-			145						Missense_Mutation	SNP	ENST00000368149.2	37	c.434C>A	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472486	0.63737	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.7	3.86	0.44501	.	0.382594	0.29233	N	0.012742	T	0.60766	0.2294	M	0.85859	2.78	0.43750	D	0.996256	P;D	0.54601	0.895;0.967	B;P	0.56343	0.365;0.796	T	0.66436	-0.5924	8	.	.	.	.	6.6181	0.22788	0.0723:0.123:0.662:0.1427	.	145;145	A9UK01;Q8N392	.;RHG18_HUMAN	E	100;145	.	.	A	-	2	0	ARHGAP18	130001350	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.474000	0.53129	1.348000	0.45733	0.555000	0.69702	GCA		0.478	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		25	72	1	0	5.35047e-06	0.003330	5.88731e-06	25	72				
C3AR1	719	broad.mit.edu	37	12	8211882	8211882	+	Silent	SNP	A	A	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:8211882A>T	ENST00000307637.4	-	2	1103	c.900T>A	c.(898-900)gcT>gcA	p.A300A		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	300					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AATTGCTAGAAGCGCTAGGGA	0.448																																						ENST00000307637.4																			0				breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(898-900)gcT>gcA		complement component 3a receptor 1							113.0	116.0	115.0					12																	8211882		2203	4300	6503	SO:0001819	synonymous_variant	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8211882A>T	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.900T>A	12.37:g.8211882A>T							p.A300A	NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	1103	-			300					O43771|Q92868	Silent	SNP	ENST00000307637.4	37	c.900T>A	CCDS8588.1																																																																																				0.448	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			34	64	0	0	0	0.003271	0	34	64				
PEX5L	51555	broad.mit.edu	37	3	179525538	179525538	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:179525538C>T	ENST00000467460.1	-	14	1930	c.1600G>A	c.(1600-1602)Gca>Aca	p.A534T	PEX5L_ENST00000464614.1_Missense_Mutation_p.A426T|PEX5L_ENST00000465751.1_Missense_Mutation_p.A510T|PEX5L_ENST00000485199.1_Missense_Mutation_p.A499T|PEX5L_ENST00000392649.3_Missense_Mutation_p.A426T|PEX5L_ENST00000263962.8_Missense_Mutation_p.A532T|PEX5L_ENST00000468741.1_Missense_Mutation_p.A342T|PEX5L_ENST00000472994.1_Missense_Mutation_p.A475T|PEX5L_ENST00000476138.1_Missense_Mutation_p.A491T|PEX5L_ENST00000467440.2_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	534					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ATCTCCAGTGCTCGCGTATAG	0.557																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1600-1602)Gca>Aca		peroxisomal biogenesis factor 5-like							159.0	160.0	160.0					3																	179525538		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179525538C>T	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1600G>A	3.37:g.179525538C>T	ENSP00000419975:p.Ala534Thr					PEX5L_ENST00000485199.1_Missense_Mutation_p.A499T|PEX5L_ENST00000472994.1_Missense_Mutation_p.A475T|PEX5L_ENST00000468741.1_Missense_Mutation_p.A342T|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.A510T|PEX5L_ENST00000476138.1_Missense_Mutation_p.A491T|PEX5L_ENST00000464614.1_Missense_Mutation_p.A426T|PEX5L_ENST00000392649.3_Missense_Mutation_p.A426T|PEX5L_ENST00000263962.8_Missense_Mutation_p.A532T	p.A534T	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		14	1930	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		534					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.1600G>A	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936122	0.92458	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.95281	0.8469	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.998;1.0;0.995;0.987;0.996	D;D;D;P;P;P	0.83275	0.995;0.995;0.996;0.833;0.772;0.896	D	0.94918	0.8071	10	0.87932	D	0	-15.4426	20.6525	0.99598	0.0:1.0:0.0:0.0	.	475;510;426;532;499;534	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	T	534;532;499;532;426;342;491;422;475;426;510	ENSP00000419975:A534T;ENSP00000263962:A532T;ENSP00000418440:A499T;ENSP00000376420:A426T;ENSP00000418665:A342T;ENSP00000420555:A491T;ENSP00000418054:A475T;ENSP00000417270:A426T;ENSP00000419348:A510T	ENSP00000263962:A532T	A	-	1	0	PEX5L	181008232	1.000000	0.71417	0.432000	0.26747	0.267000	0.26476	7.747000	0.85070	2.890000	0.99128	0.585000	0.79938	GCA		0.557	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		62	105	0	0	0	0.003610	0	62	105				
UBR1	197131	broad.mit.edu	37	15	43346982	43346982	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:43346982T>A	ENST00000290650.4	-	12	1475	c.1397A>T	c.(1396-1398)cAg>cTg	p.Q466L	UBR1_ENST00000382177.2_Missense_Mutation_p.Q466L	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	466					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CAATTTGTCCTGGCTATAACC	0.388																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(1396-1398)cAg>cTg		ubiquitin protein ligase E3 component n-recognin 1							192.0	180.0	184.0					15																	43346982		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43346982T>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1397A>T	15.37:g.43346982T>A	ENSP00000290650:p.Gln466Leu					UBR1_ENST00000382177.2_Missense_Mutation_p.Q466L	p.Q466L	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	12	1475	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	466					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.1397A>T	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	T	13.55	2.269872	0.40095	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.50548	0.74;0.74	5.59	5.59	0.84812	.	0.147583	0.49916	D	0.000133	T	0.38241	0.1033	L	0.34521	1.04	0.49915	D	0.999834	B;B	0.23735	0.037;0.09	B;B	0.17098	0.017;0.014	T	0.13818	-1.0495	10	0.27082	T	0.32	-10.5551	15.7585	0.78058	0.0:0.0:0.0:1.0	.	466;466	B4DYL2;Q8IWV7	.;UBR1_HUMAN	L	466	ENSP00000290650:Q466L;ENSP00000371612:Q466L	ENSP00000290650:Q466L	Q	-	2	0	UBR1	41134274	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.774000	0.62339	2.111000	0.64477	0.533000	0.62120	CAG		0.388	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		29	49	0	0	0	0.009535	0	29	49				
SF3B3	23450	broad.mit.edu	37	16	70575647	70575647	+	Silent	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:70575647A>G	ENST00000302516.5	+	9	1354	c.1143A>G	c.(1141-1143)gaA>gaG	p.E381E		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	381					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CTCTGGAAGAAGGAGACACAT	0.448																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(1141-1143)gaA>gaG		splicing factor 3b, subunit 3, 130kDa							222.0	217.0	219.0					16																	70575647		2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70575647A>G	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1143A>G	16.37:g.70575647A>G							p.E381E	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			9	1354	+		Ovarian(137;0.0694)	381					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.1143A>G	CCDS10894.1																																																																																				0.448	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		36	99	0	0	0	0.002836	0	36	99				
BCL11A	53335	broad.mit.edu	37	2	60687943	60687943	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:60687943G>A	ENST00000335712.6	-	4	2331	c.2104C>T	c.(2104-2106)Ccg>Tcg	p.P702S	BCL11A_ENST00000537768.1_Missense_Mutation_p.P371S|BCL11A_ENST00000358510.4_Missense_Mutation_p.P668S|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.P702S|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.P668S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	702					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCCCCGGGCGGTGTGGAGAAG	0.652			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(2104-2106)Ccg>Tcg		B-cell CLL/lymphoma 11A (zinc finger protein)							34.0	41.0	39.0					2																	60687943		2201	4299	6500	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60687943G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.2104C>T	2.37:g.60687943G>A	ENSP00000338774:p.Pro702Ser					BCL11A_ENST00000358510.4_Missense_Mutation_p.P668S|BCL11A_ENST00000537768.1_Missense_Mutation_p.P371S|BCL11A_ENST00000356842.4_Missense_Mutation_p.P702S|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.P668S	p.P702S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2331	-			702					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.2104C>T	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802776	0.50315	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.38077	1.6;3.22;1.16;3.29;3.19	5.93	5.93	0.95920	.	0.134244	0.49916	D	0.000130	T	0.52435	0.1734	L	0.34521	1.04	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	0.91635	0.999;0.992;0.996;0.999;0.999	T	0.42816	-0.9429	10	0.42905	T	0.14	-2.3813	20.3311	0.98718	0.0:0.0:1.0:0.0	.	668;371;668;702;702	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	S	702;727;668;371;702;668	ENSP00000349300:P702S;ENSP00000438303:P668S;ENSP00000443712:P371S;ENSP00000338774:P702S;ENSP00000351307:P668S	ENSP00000338774:P702S	P	-	1	0	BCL11A	60541447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.797000	0.96272	0.655000	0.94253	CCG		0.652	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		13	31	0	0	0	0.001855	0	13	31				
TLR4	7099	broad.mit.edu	37	9	120475917	120475917	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:120475917C>G	ENST00000355622.6	+	3	1612	c.1511C>G	c.(1510-1512)tCt>tGt	p.S504C	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.S464C	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	504					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CTGGACCTCTCTCAGTGTCAA	0.438																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(1510-1512)tCt>tGt		toll-like receptor 4							81.0	77.0	79.0					9																	120475917		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475917C>G	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1511C>G	9.37:g.120475917C>G	ENSP00000363089:p.Ser504Cys					TLR4_ENST00000394487.4_Missense_Mutation_p.S464C|TLR4_ENST00000472304.1_3'UTR	p.S504C	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	1612	+			504					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.1511C>G	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707443	0.68615	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.62498	0.02;0.02	5.72	5.72	0.89469	.	0.088245	0.50627	D	0.000116	D	0.83105	0.5182	M	0.87269	2.87	0.44500	D	0.997447	D	0.89917	1.0	D	0.97110	1.0	D	0.85306	0.1076	10	0.87932	D	0	.	19.8807	0.96899	0.0:1.0:0.0:0.0	.	504	O00206	TLR4_HUMAN	C	464;504	ENSP00000377997:S464C;ENSP00000363089:S504C	ENSP00000363089:S504C	S	+	2	0	TLR4	119515738	0.981000	0.34729	0.917000	0.36280	0.812000	0.45895	2.834000	0.48167	2.704000	0.92352	0.650000	0.86243	TCT		0.438	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		10	51	0	0	0	0.008291	0	10	51				
ZEB1	6935	broad.mit.edu	37	10	31803553	31803553	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:31803553G>T	ENST00000320985.10	+	6	817	c.707G>T	c.(706-708)tGt>tTt	p.C236F	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.C216F|ZEB1_ENST00000542815.3_Missense_Mutation_p.C169F|ZEB1_ENST00000446923.2_Missense_Mutation_p.C220F|ZEB1_ENST00000361642.5_Missense_Mutation_p.C237F			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	236					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CAGTCTGGGTGTAATCGTAAA	0.328																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(658-660)tGt>tTt		zinc finger E-box binding homeobox 1							100.0	97.0	98.0					10																	31803553		2203	4299	6502	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31803553G>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.707G>T	10.37:g.31803553G>T	ENSP00000319248:p.Cys236Phe					ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.C169F|ZEB1_ENST00000560721.2_Missense_Mutation_p.C216F|ZEB1_ENST00000320985.10_Missense_Mutation_p.C236F|ZEB1_ENST00000361642.5_Missense_Mutation_p.C237F	p.C220F	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			6	1050	+		Prostate(175;0.0156)	236					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.659G>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046385	0.75846	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000424869;ENST00000543514;ENST00000446923	T;T;T;T;T;T	0.13307	3.05;2.69;2.73;2.68;2.6;2.73	5.5	5.5	0.81552	.	0.109611	0.40302	N	0.001126	T	0.15435	0.0372	N	0.24115	0.695	0.41937	D	0.990598	P;B;B;P;B;B;B;P	0.40360	0.714;0.345;0.437;0.587;0.234;0.404;0.437;0.587	B;B;B;B;B;B;B;B	0.42692	0.395;0.2;0.232;0.155;0.098;0.222;0.155;0.155	T	0.02365	-1.1170	10	0.87932	D	0	-10.7316	19.376	0.94508	0.0:0.0:1.0:0.0	.	169;236;220;236;236;216;237;236	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	F	18;236;237;236;169;236;216;95;237;127;220	ENSP00000444282:C18F;ENSP00000354487:C237F;ENSP00000444891:C169F;ENSP00000319248:C236F;ENSP00000415961:C237F;ENSP00000391612:C220F	ENSP00000319248:C236F	C	+	2	0	ZEB1	31843559	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.565000	0.86533	0.591000	0.81541	TGT		0.328	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		7	41	1	0	2.0095e-06	0.001984	2.22601e-06	7	41				
MRPS15	64960	broad.mit.edu	37	1	36921787	36921787	+	Splice_Site	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:36921787C>G	ENST00000373116.5	-	7	798		c.e7+1		MRPS15_ENST00000488606.1_Splice_Site	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15						translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGACTCGTACCCGAATGCAC	0.552																																						ENST00000373116.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14						c.e7+1		mitochondrial ribosomal protein S15							61.0	59.0	60.0					1																	36921787		2203	4300	6503	SO:0001630	splice_region_variant	64960				translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome	g.chr1:36921787C>G	AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"""Mitochondrial ribosomal proteins / small subunits"""	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.636+1G>C	1.37:g.36921787C>G						MRPS15_ENST00000488606.1_Splice_Site		NM_031280.3	NP_112570.2	P82914	RT15_HUMAN			7	798	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)						B2RD82|Q9H2K1	Splice_Site	SNP	ENST00000373116.5	37		CCDS411.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101529	0.76983	.	.	ENSG00000116898	ENST00000373116	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2359	0.93858	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MRPS15	36694374	1.000000	0.71417	0.992000	0.48379	0.746000	0.42486	7.066000	0.76734	2.894000	0.99253	0.591000	0.81541	.		0.552	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022052.2	NM_031280	Intron	9	48	0	0	0	0.004482	0	9	48				
TTC7B	145567	broad.mit.edu	37	14	91142901	91142901	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:91142901A>G	ENST00000328459.6	-	9	1239	c.1118T>C	c.(1117-1119)cTt>cCt	p.L373P	RP11-661G16.1_ENST00000554967.1_RNA|TTC7B_ENST00000357056.2_Missense_Mutation_p.L373P	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	373										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TCTTCTTCCAAGAGCAATGGT	0.547																																						ENST00000357056.2																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36						c.(1117-1119)cTt>cCt		tetratricopeptide repeat domain 7B							162.0	129.0	140.0					14																	91142901		2203	4300	6503	SO:0001583	missense	145567						binding	g.chr14:91142901A>G	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1118T>C	14.37:g.91142901A>G	ENSP00000336127:p.Leu373Pro					TTC7B_ENST00000328459.6_Missense_Mutation_p.L373P	p.L373P			Q86TV6	TTC7B_HUMAN			9	1239	-		Melanoma(154;0.222)	373					Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.1118T>C	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172948	0.78452	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000540938	D;D	0.82081	-1.57;-1.57	5.11	5.11	0.69529	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000001	D	0.90466	0.7014	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.91733	0.5398	10	0.87932	D	0	-9.833	14.9443	0.71016	1.0:0.0:0.0:0.0	.	373	Q86TV6	TTC7B_HUMAN	P	271;373;373;115	ENSP00000349564:L373P;ENSP00000336127:L373P	ENSP00000336127:L373P	L	-	2	0	TTC7B	90212654	1.000000	0.71417	0.978000	0.43139	0.784000	0.44337	9.339000	0.96797	1.935000	0.56089	0.460000	0.39030	CTT		0.547	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			11	68	0	0	0	0.008291	0	11	68				
BOC	91653	broad.mit.edu	37	3	112968723	112968723	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:112968723C>A	ENST00000495514.1	+	3	778	c.74C>A	c.(73-75)aCa>aAa	p.T25K	BOC_ENST00000355385.3_Missense_Mutation_p.T25K|BOC_ENST00000485230.1_Missense_Mutation_p.T25K|BOC_ENST00000484034.1_Missense_Mutation_p.T25K|BOC_ENST00000273395.4_Missense_Mutation_p.T25K			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	25					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTCCTAGCCACAGCAGGCTGC	0.507																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(73-75)aCa>aAa		BOC cell adhesion associated, oncogene regulated							145.0	94.0	112.0					3																	112968723		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112968723C>A	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.74C>A	3.37:g.112968723C>A	ENSP00000418663:p.Thr25Lys					BOC_ENST00000484034.1_Missense_Mutation_p.T25K|BOC_ENST00000273395.4_Missense_Mutation_p.T25K|BOC_ENST00000355385.3_Missense_Mutation_p.T25K|BOC_ENST00000485230.1_Missense_Mutation_p.T25K	p.T25K			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		3	778	+			25					A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.74C>A	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	c	13.81	2.348652	0.41599	.	.	ENSG00000144857	ENST00000464546;ENST00000495514;ENST00000485230;ENST00000273395;ENST00000355385;ENST00000494687;ENST00000484034	D;T;T;T;T;T	0.81659	-1.52;0.24;0.5;0.25;0.24;0.5	5.29	3.49	0.39957	.	0.532639	0.20548	N	0.090165	T	0.70378	0.3217	N	0.19112	0.55	0.09310	N	1	P;B;B;P	0.41848	0.763;0.277;0.181;0.651	P;B;B;B	0.44897	0.463;0.079;0.036;0.115	T	0.59526	-0.7438	10	0.28530	T	0.3	.	10.8254	0.46629	0.0:0.8515:0.0:0.1485	.	25;25;25;25	C9J2L7;Q9BWV1-3;Q9BWV1;Q96DN7	.;.;BOC_HUMAN;.	K	25	ENSP00000417362:T25K;ENSP00000418663:T25K;ENSP00000420154:T25K;ENSP00000273395:T25K;ENSP00000347546:T25K;ENSP00000417337:T25K	ENSP00000273395:T25K	T	+	2	0	BOC	114451413	0.006000	0.16342	0.003000	0.11579	0.899000	0.52679	2.182000	0.42556	0.794000	0.33899	0.645000	0.84053	ACA		0.507	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		6	23	1	0	3.59834e-05	0.001168	3.9071e-05	6	23				
FGG	2266	broad.mit.edu	37	4	155528082	155528082	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:155528082G>T	ENST00000336098.3	-	8	942	c.904C>A	c.(904-906)Cta>Ata	p.L302I	FGG_ENST00000404648.3_Missense_Mutation_p.L302I|FGG_ENST00000407946.1_Missense_Mutation_p.L310I|FGG_ENST00000405164.1_Missense_Mutation_p.L310I	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	302	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCATATGTTAGGCGGTACTTG	0.478																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(904-906)Cta>Ata		fibrinogen gamma chain	Sucralfate(DB00364)						177.0	157.0	163.0					4																	155528082		2203	4300	6503	SO:0001583	missense	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155528082G>T		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.904C>A	4.37:g.155528082G>T	ENSP00000336829:p.Leu302Ile					FGG_ENST00000336098.3_Missense_Mutation_p.L302I|FGG_ENST00000407946.1_Missense_Mutation_p.L310I|FGG_ENST00000405164.1_Missense_Mutation_p.L310I	p.L302I	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN			8	1143	-	all_hematologic(180;0.215)	Renal(120;0.0458)	302			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.904C>A	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126946	0.56721	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	D;D;D;D	0.98947	-5.26;-5.26;-5.26;-5.26	5.8	-2.59	0.06209	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.133552	0.51477	D	0.000086	D	0.98188	0.9401	M	0.77712	2.385	0.32742	N	0.50759	P;P;P;P;P	0.52577	0.615;0.954;0.936;0.699;0.65	P;P;D;P;P	0.63793	0.853;0.878;0.918;0.833;0.797	D	0.96169	0.9121	10	0.44086	T	0.13	.	4.906	0.13799	0.3154:0.0:0.3404:0.3442	.	199;310;302;310;302	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	I	302;310;302;310	ENSP00000384860:L302I;ENSP00000384101:L310I;ENSP00000336829:L302I;ENSP00000384552:L310I	ENSP00000336829:L302I	L	-	1	2	FGG	155747532	0.841000	0.29509	0.920000	0.36463	0.746000	0.42486	0.265000	0.18515	-0.379000	0.07906	-0.140000	0.14226	CTA		0.478	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		9	55	1	0	1.76689e-08	0.006214	2.02546e-08	9	55				
C6orf58	352999	broad.mit.edu	37	6	127899855	127899855	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:127899855G>A	ENST00000329722.7	+	2	338	c.326G>A	c.(325-327)aGg>aAg	p.R109K		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	109						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CCAACCCGAAGGACAAACTGT	0.418																																						ENST00000329722.7																			0				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15						c.(325-327)aGg>aAg		chromosome 6 open reading frame 58							218.0	202.0	208.0					6																	127899855		2203	4299	6502	SO:0001583	missense	352999					extracellular region		g.chr6:127899855G>A	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.326G>A	6.37:g.127899855G>A	ENSP00000328069:p.Arg109Lys						p.R109K	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN		GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)	2	338	+			109					B4E1I0|Q5VUP2	Missense_Mutation	SNP	ENST00000329722.7	37	c.326G>A	CCDS34533.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.787913	0.00628	.	.	ENSG00000184530	ENST00000329722	T	0.41758	0.99	4.95	-5.0	0.03001	.	0.822850	0.11041	N	0.606059	T	0.13157	0.0319	M	0.72479	2.2	0.09310	N	1	B	0.17038	0.02	B	0.17979	0.02	T	0.28618	-1.0038	9	.	.	.	-0.7635	0.6167	0.00771	0.2262:0.2554:0.2768:0.2416	.	109	Q6P5S2	CF058_HUMAN	K	109	ENSP00000328069:R109K	.	R	+	2	0	C6orf58	127941548	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	-3.459000	0.00464	-0.866000	0.04068	-1.094000	0.02160	AGG		0.418	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905		53	64	0	0	0	0.003610	0	53	64				
WBP11P1	441818	broad.mit.edu	37	18	30091940	30091940	+	RNA	SNP	A	A	C	rs2015877	byFrequency	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr18:30091940A>C	ENST00000567636.1	+	0	315					NR_003558.1				WW domain binding protein 11 pseudogene 1																		GTTTGAGCTGAAGTTTTAAAG	0.418													C|||	3683	0.735423	0.6528	0.6167	5008	,	,		16399	0.8532		0.7276	False		,,,				2504	0.818					ENST00000567636.1																			0																																																			441818							g.chr18:30091940A>C	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30091940A>C								NR_003558.1						0	315	+									RNA	SNP	ENST00000567636.1	37																																																																																						0.418	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			3	28	0	0	0	0.004672	0	3	28				
TIAL1	7073	broad.mit.edu	37	10	121342100	121342100	+	Intron	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:121342100G>C	ENST00000436547.2	-	3	174				TIAL1_ENST00000369093.2_Silent_p.V50V|TIAL1_ENST00000369092.4_Intron	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1						apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CAGAAGAGTTGACCCTTCTGC	0.408																																						ENST00000369093.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13						c.(148-150)gtC>gtG		TIA1 cytotoxic granule-associated RNA binding protein-like 1							61.0	61.0	61.0					10																	121342100		2203	4300	6503	SO:0001627	intron_variant	7073				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding	g.chr10:121342100G>C	AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.130-31C>G	10.37:g.121342100G>C						TIAL1_ENST00000436547.2_Intron|TIAL1_ENST00000369092.4_Intron	p.V50V	NM_001033925.1	NP_001029097.1	Q01085	TIAR_HUMAN		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)	3	179	-		Lung NSC(174;0.094)|all_lung(145;0.123)	43			RRM 1.		A8K3T0|A8K4L9	Silent	SNP	ENST00000436547.2	37	c.150C>G	CCDS7613.1																																																																																				0.408	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	NM_022333, NM_003252		21	37	0	0	0	0.008871	0	21	37				
ESCO1	114799	broad.mit.edu	37	18	19153946	19153946	+	Missense_Mutation	SNP	G	G	C	rs372616592		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr18:19153946G>C	ENST00000269214.5	-	4	1796	c.859C>G	c.(859-861)Caa>Gaa	p.Q287E		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	287					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTATCACTTTGTTCAGGCACT	0.423																																						ENST00000269214.5																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(859-861)Caa>Gaa		establishment of sister chromatid cohesion N-acetyltransferase 1		G	GLU/GLN	0,4406		0,0,2203	113.0	113.0	113.0		859	3.7	1.0	18		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	ESCO1	NM_052911.2	29	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	287/841	19153946	1,13005	2203	4300	6503	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19153946G>C	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.859C>G	18.37:g.19153946G>C	ENSP00000269214:p.Gln287Glu						p.Q287E	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			4	1796	-			287					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.859C>G	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	G	8.707	0.911212	0.17833	0.0	1.16E-4	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.57273	0.41;1.96	5.5	3.66	0.41972	.	0.835337	0.10695	N	0.644671	T	0.38026	0.1025	L	0.41236	1.265	0.24408	N	0.994678	B	0.10296	0.003	B	0.04013	0.001	T	0.34179	-0.9839	10	0.02654	T	1	-27.9937	8.9853	0.35990	0.0:0.163:0.5795:0.2575	.	287	Q5FWF5	ESCO1_HUMAN	E	287	ENSP00000269214:Q287E;ENSP00000372763:Q287E	ENSP00000269214:Q287E	Q	-	1	0	ESCO1	17407944	0.983000	0.35010	0.999000	0.59377	0.985000	0.73830	0.619000	0.24388	1.324000	0.45282	-0.169000	0.13324	CAA		0.423	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		23	59	0	0	0	0.012319	0	23	59				
GRM1	2911	broad.mit.edu	37	6	146755040	146755040	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:146755040C>T	ENST00000282753.1	+	8	2928	c.2693C>T	c.(2692-2694)cCa>cTa	p.P898L	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.P898L|GRM1_ENST00000355289.4_Intron|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_Intron			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	898					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TGGTCTGAACCAGGTGGAGGA	0.458																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2692-2694)cCa>cTa		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						60.0	60.0	60.0					6																	146755040		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755040C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2693C>T	6.37:g.146755040C>T	ENSP00000282753:p.Pro898Leu					GRM1_ENST00000507907.1_Intron|GRM1_ENST00000355289.4_Intron|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P898L|GRM1_ENST00000392299.2_3'UTR	p.P898L	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3163	+		Ovarian(120;0.0387)	898					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2693C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576750	0.65878	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	T;T	0.29142	1.58;1.58	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.21801	0.0525	M	0.67953	2.075	0.80722	D	1	P	0.39282	0.666	B	0.29440	0.102	T	0.19224	-1.0312	10	0.66056	D	0.02	.	19.1666	0.93560	0.0:1.0:0.0:0.0	.	898	Q13255	GRM1_HUMAN	L	898	ENSP00000354896:P898L;ENSP00000282753:P898L	ENSP00000282753:P898L	P	+	2	0	GRM1	146796733	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.484000	0.81180	2.513000	0.84729	0.455000	0.32223	CCA		0.458	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		4	32	0	0	0	0.009096	0	4	32				
GRB10	2887	broad.mit.edu	37	7	50663143	50663143	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:50663143C>A	ENST00000401949.1	-	18	2098	c.1629G>T	c.(1627-1629)caG>caT	p.Q543H	GRB10_ENST00000407526.1_Missense_Mutation_p.Q485H|GRB10_ENST00000398812.2_Missense_Mutation_p.Q543H|GRB10_ENST00000402578.1_Missense_Mutation_p.Q485H|GRB10_ENST00000406641.1_Missense_Mutation_p.Q485H|GRB10_ENST00000335866.3_Missense_Mutation_p.Q485H|GRB10_ENST00000439599.1_Missense_Mutation_p.Q537H|GRB10_ENST00000402497.1_Missense_Mutation_p.Q485H|GRB10_ENST00000357271.5_Missense_Mutation_p.Q497H|GRB10_ENST00000403097.1_Missense_Mutation_p.Q537H|GRB10_ENST00000398810.2_Missense_Mutation_p.Q485H			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	543	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CAGGTAAGATCTGGAAATTTT	0.398									Russell-Silver syndrome																													ENST00000403097.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(1609-1611)caG>caT		growth factor receptor-bound protein 10							197.0	198.0	198.0					7																	50663143		1831	4078	5909	SO:0001583	missense	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50663143C>A		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1629G>T	7.37:g.50663143C>A	ENSP00000385770:p.Gln543His					GRB10_ENST00000402497.1_Missense_Mutation_p.Q485H|GRB10_ENST00000401949.1_Missense_Mutation_p.Q543H|GRB10_ENST00000402578.1_Missense_Mutation_p.Q485H|GRB10_ENST00000398810.2_Missense_Mutation_p.Q485H|GRB10_ENST00000439599.1_Missense_Mutation_p.Q537H|GRB10_ENST00000398812.2_Missense_Mutation_p.Q543H|GRB10_ENST00000406641.1_Missense_Mutation_p.Q485H|GRB10_ENST00000335866.3_Missense_Mutation_p.Q485H|GRB10_ENST00000407526.1_Missense_Mutation_p.Q485H|GRB10_ENST00000357271.5_Missense_Mutation_p.Q497H	p.Q537H			Q13322	GRB10_HUMAN			17	2391	-	Glioma(55;0.08)|all_neural(89;0.245)		543			SH2.		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.1611G>T	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832512	0.71258	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000398791;ENST00000402497	D;D;D;D;D;D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.78	5.78	0.91487	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.92886	0.7737	M	0.62209	1.925	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.951;0.951;0.984	D	0.92676	0.6154	10	0.56958	D	0.05	-35.2178	13.6605	0.62363	0.0:0.9205:0.0:0.0795	.	537;497;543	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	H	543;537;485;485;485;537;485;497;485;543;75;485	ENSP00000381793:Q543H;ENSP00000406716:Q537H;ENSP00000338543:Q485H;ENSP00000381790:Q485H;ENSP00000385189:Q485H;ENSP00000385544:Q537H;ENSP00000385366:Q485H;ENSP00000349818:Q497H;ENSP00000385046:Q485H;ENSP00000385770:Q543H;ENSP00000385748:Q485H	ENSP00000338543:Q485H	Q	-	3	2	GRB10	50630637	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.255000	0.51484	2.717000	0.92951	0.655000	0.94253	CAG		0.398	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			56	99	1	0	2.31391e-43	0.003610	2.84058e-43	56	99				
MTHFD2P1	100287639	broad.mit.edu	37	3	95374508	95374508	+	RNA	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:95374508C>G	ENST00000494840.1	-	0	1353					NR_077228.1				methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 1																		CAACATTACTCAGTTTATTTA	0.403																																						ENST00000494840.1																			0																																																			100287639							g.chr3:95374508C>G			3q11.2	2013-06-19			ENSG00000244681	ENSG00000244681			48859	pseudogene	pseudogene							Standard	NR_077228		Approved				OTTHUMG00000159027		3.37:g.95374508C>G								NR_077228.1						0	1353	-									RNA	SNP	ENST00000494840.1	37																																																																																						0.403	MTHFD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352943.1			3	16	0	0	0	0.004672	0	3	16				
IFT80	57560	broad.mit.edu	37	3	160095241	160095241	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:160095241T>C	ENST00000326448.7	-	4	779	c.347A>G	c.(346-348)tAt>tGt	p.Y116C	IFT80_ENST00000483465.1_5'UTR|RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000496589.1_5'UTR|IFT80_ENST00000477495.1_5'UTR	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	116					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGTTCCTTCATAATTCCATCT	0.308																																						ENST00000326448.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(346-348)tAt>tGt		intraflagellar transport 80 homolog (Chlamydomonas)							118.0	111.0	113.0					3																	160095241		2202	4300	6502	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:160095241T>C	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.347A>G	3.37:g.160095241T>C	ENSP00000312778:p.Tyr116Cys					IFT80_ENST00000496589.1_5'UTR|RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000483465.1_5'UTR|IFT80_ENST00000477495.1_5'UTR	p.Y116C	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		4	779	-			116					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.347A>G	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.723126	0.68959	.	.	ENSG00000068885	ENST00000326448;ENST00000498409;ENST00000489004	T;T;T	0.70399	0.22;0.22;-0.48	5.22	5.22	0.72569	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.944627	0.08538	U	0.930993	T	0.78039	0.4221	L	0.50847	1.595	0.80722	D	1	D	0.56287	0.975	P	0.57548	0.823	T	0.69191	-0.5210	10	0.44086	T	0.13	.	12.2688	0.54693	0.0:0.0:0.1414:0.8586	.	116	Q9P2H3	IFT80_HUMAN	C	116	ENSP00000312778:Y116C;ENSP00000420001:Y116C;ENSP00000418455:Y116C	ENSP00000312778:Y116C	Y	-	2	0	IFT80	161577935	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	3.163000	0.50763	1.973000	0.57446	0.477000	0.44152	TAT		0.308	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		10	61	0	0	0	0.010729	0	10	61				
CPT1C	126129	broad.mit.edu	37	19	50212082	50212082	+	Missense_Mutation	SNP	G	G	C	rs199943704		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:50212082G>C	ENST00000392518.4	+	14	1924	c.1552G>C	c.(1552-1554)Gac>Cac	p.D518H	CPT1C_ENST00000354199.5_Missense_Mutation_p.D518H|CPT1C_ENST00000323446.5_Missense_Mutation_p.D518H|CPT1C_ENST00000405931.2_Missense_Mutation_p.D507H|CPT1C_ENST00000598293.1_Missense_Mutation_p.D518H	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	518					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCTGCAATGGGACCTTCCAGA	0.587													g|||	1	0.000199681	0.0	0.0	5008	,	,		14262	0.001		0.0	False		,,,				2504	0.0					ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1552-1554)Gac>Cac		carnitine palmitoyltransferase 1C							56.0	59.0	58.0					19																	50212082		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50212082G>C	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1552G>C	19.37:g.50212082G>C	ENSP00000376303:p.Asp518His					CPT1C_ENST00000598293.1_Missense_Mutation_p.D518H|CPT1C_ENST00000323446.5_Missense_Mutation_p.D518H|CPT1C_ENST00000354199.5_Missense_Mutation_p.D518H|CPT1C_ENST00000405931.2_Missense_Mutation_p.D507H	p.D518H	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	14	1924	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	518					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.1552G>C	CCDS12779.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.20	2.167279	0.38315	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	4.42	0.879	0.19155	.	0.543440	0.16749	N	0.201090	D	0.82669	0.5087	L	0.43554	1.36	0.41335	D	0.987265	B;B;B;B	0.28208	0.203;0.012;0.021;0.06	B;B;B;B	0.33196	0.159;0.016;0.059;0.141	T	0.75283	-0.3372	10	0.45353	T	0.12	-15.794	5.4565	0.16594	0.2134:0.1725:0.6141:0.0	.	389;518;507;518	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	H	518;518;507;518;389	ENSP00000376303:D518H;ENSP00000346138:D518H;ENSP00000384465:D507H;ENSP00000319343:D518H	ENSP00000295404:D389H	D	+	1	0	CPT1C	54903894	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	3.552000	0.53705	0.486000	0.27676	0.456000	0.33151	GAC		0.587	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		15	39	0	0	0	0.004007	0	15	39				
FCAR	2204	broad.mit.edu	37	19	55401062	55401062	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:55401062G>A	ENST00000355524.3	+	5	707	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	FCAR_ENST00000391724.3_Missense_Mutation_p.V199M|FCAR_ENST00000391726.3_Missense_Mutation_p.V125M|FCAR_ENST00000345937.4_Missense_Mutation_p.V137M|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000359272.4_Missense_Mutation_p.V221M|FCAR_ENST00000391725.3_Missense_Mutation_p.V211M|FCAR_ENST00000353758.4_Missense_Mutation_p.V124M|FCAR_ENST00000391723.3_Missense_Mutation_p.R196H|CTB-61M7.2_ENST00000594721.1_lincRNA	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	233					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCGCATGGCCGTGGCAGGACT	0.527																																						ENST00000355524.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24						c.(697-699)Gtg>Atg		Fc fragment of IgA, receptor for							317.0	310.0	312.0					19																	55401062		2203	4300	6503	SO:0001583	missense	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55401062G>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.697G>A	19.37:g.55401062G>A	ENSP00000347714:p.Val233Met					FCAR_ENST00000353758.4_Missense_Mutation_p.V124M|FCAR_ENST00000359272.4_Missense_Mutation_p.V221M|FCAR_ENST00000345937.4_Missense_Mutation_p.V137M|FCAR_ENST00000391724.3_Missense_Mutation_p.V199M|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391725.3_Missense_Mutation_p.V211M|FCAR_ENST00000391723.3_Missense_Mutation_p.R196H|FCAR_ENST00000391726.3_Missense_Mutation_p.V125M	p.V233M	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	5	707	+			233					Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.697G>A	CCDS12907.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	5.538|5.538	0.284210|0.284210	0.10513|0.10513	.|.	.|.	ENSG00000186431|ENSG00000186431	ENST00000391723|ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000353758;ENST00000359272;ENST00000391724	T|T;T;T;T;T;T;T	0.00591|0.03301	6.35|3.98;6.79;6.63;4.96;6.61;6.7;6.48	3.9|3.9	-7.13|-7.13	0.01532|0.01532	.|.	.|.	.|.	.|.	.|.	T|T	0.01905|0.01905	0.0060|0.0060	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	B|B;B;B;B;B;P;B	0.11235|0.38300	0.004|0.01;0.076;0.422;0.175;0.041;0.626;0.039	B|B;B;B;B;B;B;B	0.04013|0.25987	0.001|0.004;0.015;0.022;0.012;0.016;0.065;0.011	T|T	0.40683|0.40683	-0.9550|-0.9550	8|8	0.87932|0.48119	D|T	0|0.1	.|.	6.098|6.098	0.20031|0.20031	0.5393:0.2704:0.1903:0.0|0.5393:0.2704:0.1903:0.0	.|.	196|124;199;125;221;211;137;233	Q92588|Q92592;Q92593;Q92587;Q9UEK0;Q53X39;P24071-3;P24071	.|.;.;.;.;.;.;FCAR_HUMAN	H|M	196|125;233;211;137;124;221;199	ENSP00000375603:R196H|ENSP00000375606:V125M;ENSP00000347714:V233M;ENSP00000375605:V211M;ENSP00000338257:V137M;ENSP00000338058:V124M;ENSP00000352218:V221M;ENSP00000375604:V199M	ENSP00000375603:R196H|ENSP00000338257:V137M	R|V	+|+	2|1	0|0	FCAR|FCAR	60092874|60092874	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.074000|0.074000	0.17049|0.17049	-1.798000|-1.798000	0.01747|0.01747	-1.024000|-1.024000	0.03338|0.03338	-2.092000|-2.092000	0.00371|0.00371	CGT|GTG		0.527	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		47	186	0	0	0	0.003610	0	47	186				
SPTBN1	6711	broad.mit.edu	37	2	54859772	54859772	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:54859772G>C	ENST00000356805.4	+	17	3915	c.3634G>C	c.(3634-3636)Gag>Cag	p.E1212Q	SPTBN1_ENST00000333896.5_Missense_Mutation_p.E1199Q	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1212					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TAAAAAGCAAGAGGACTTCAT	0.478																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(3595-3597)Gag>Cag		spectrin, beta, non-erythrocytic 1							111.0	104.0	106.0					2																	54859772		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54859772G>C		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3634G>C	2.37:g.54859772G>C	ENSP00000349259:p.Glu1212Gln					SPTBN1_ENST00000356805.4_Missense_Mutation_p.E1212Q	p.E1199Q	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		16	3980	+			1212					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.3595G>C	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970816	0.92919	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.50813	0.73;0.73	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.65123	0.2661	M	0.85041	2.73	0.80722	D	1	P;P	0.46220	0.756;0.874	B;P	0.49477	0.379;0.612	T	0.67910	-0.5548	10	0.44086	T	0.13	.	19.557	0.95354	0.0:0.0:1.0:0.0	.	1199;1212	Q01082-3;Q01082	.;SPTB2_HUMAN	Q	1212;1199	ENSP00000349259:E1212Q;ENSP00000334156:E1199Q	ENSP00000334156:E1199Q	E	+	1	0	SPTBN1	54713276	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.807000	0.99171	2.630000	0.89119	0.655000	0.94253	GAG		0.478	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			6	39	0	0	0	0.001168	0	6	39				
EMB	133418	broad.mit.edu	37	5	49706781	49706781	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:49706781G>A	ENST00000303221.5	-	4	617	c.402C>T	c.(400-402)agC>agT	p.S134S	EMB_ENST00000514111.1_Silent_p.S84S|EMB_ENST00000508934.1_Silent_p.S80S|EMB_ENST00000506190.1_5'UTR	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	134	Ig-like V-type 1.				cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CCATTTGTTTGCTATTAATGA	0.284																																						ENST00000303221.5																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15						c.(400-402)agC>agT		embigin							38.0	39.0	39.0					5																	49706781		2202	4267	6469	SO:0001819	synonymous_variant	133418					integral to membrane		g.chr5:49706781G>A	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30465	protein-coding gene	gene with protein product		615669	"""embigin homolog (mouse)"""			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.402C>T	5.37:g.49706781G>A						EMB_ENST00000514111.1_Silent_p.S84S|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Silent_p.S80S	p.S134S	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN			4	617	-	Lung SC(58;0.218)	Lung NSC(810;0.0795)	134			Ig-like V-type 1.		B7Z6S3|B7Z902	Silent	SNP	ENST00000303221.5	37	c.402C>T	CCDS3953.1																																																																																				0.284	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1	NM_198449		5	18	0	0	0	0.001168	0	5	18				
OR7A5	26659	broad.mit.edu	37	19	14938380	14938380	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:14938380A>G	ENST00000322301.3	-	2	761	c.674T>C	c.(673-675)aTa>aCa	p.I225T	OR7A5_ENST00000594432.1_Missense_Mutation_p.I225T|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	225					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GATTGCATGTATGGAAGAAAT	0.443																																						ENST00000322301.3																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(673-675)aTa>aCa		olfactory receptor, family 7, subfamily A, member 5							74.0	68.0	70.0					19																	14938380		2203	4300	6503	SO:0001583	missense	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938380A>G	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.674T>C	19.37:g.14938380A>G	ENSP00000316955:p.Ile225Thr					OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.I225T	p.I225T			Q15622	OR7A5_HUMAN			2	761	-			225					B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	c.674T>C	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	a	14.31	2.496511	0.44352	.	.	ENSG00000188269	ENST00000322301	T	0.00265	8.39	3.12	0.899	0.19271	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00552	0.0018	H	0.96720	3.87	0.09310	N	1	P	0.49185	0.92	P	0.54100	0.742	T	0.40001	-0.9586	9	0.66056	D	0.02	.	3.7332	0.08500	0.6944:0.0:0.1156:0.1899	.	225	Q15622	OR7A5_HUMAN	T	225	ENSP00000316955:I225T	ENSP00000316955:I225T	I	-	2	0	OR7A5	14799380	0.078000	0.21339	0.018000	0.16275	0.179000	0.23085	3.882000	0.56160	0.024000	0.15214	0.102000	0.15555	ATA		0.443	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		16	62	0	0	0	0.004990	0	16	62				
DNAH8	1769	broad.mit.edu	37	6	38819387	38819387	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:38819387C>T	ENST00000359357.3	+	37	5006	c.4752C>T	c.(4750-4752)ttC>ttT	p.F1584F	DNAH8_ENST00000449981.2_Silent_p.F1801F|DNAH8_ENST00000441566.1_Silent_p.F1584F			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1584					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAAGATTCTTCTTTGTATCTG	0.353																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(4750-4752)ttC>ttT		dynein, axonemal, heavy chain 8							91.0	94.0	93.0					6																	38819387		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38819387C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4752C>T	6.37:g.38819387C>T						DNAH8_ENST00000441566.1_Silent_p.F1584F|DNAH8_ENST00000449981.2_Silent_p.F1801F	p.F1584F							37	5006	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.4752C>T																																																																																					0.353	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		6	34	0	0	0	0.001168	0	6	34				
SNX21	90203	broad.mit.edu	37	20	44469390	44469390	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:44469390G>A	ENST00000491381.1	+	4	628	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	SNX21_ENST00000372542.1_Missense_Mutation_p.R178Q|SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000372541.1_3'UTR|SNX21_ENST00000342644.5_Missense_Mutation_p.R187Q			Q969T3	SNX21_HUMAN	sorting nexin family member 21	187	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.R187L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CGGCAATTCCGGGGCCCAATG	0.627																																						ENST00000372542.1																			1	Substitution - Missense(1)	p.R187L(1)	lung(1)	breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(532-534)cGg>cAg		sorting nexin family member 21							62.0	68.0	66.0					20																	44469390		2203	4300	6503	SO:0001583	missense	90203				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr20:44469390G>A	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"""Sorting nexins"", ""Tetratricopeptide (TTC) repeat domain containing"""	16154	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 161"""	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.560G>A	20.37:g.44469390G>A	ENSP00000418593:p.Arg187Gln					SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000491381.1_Missense_Mutation_p.R187Q|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Missense_Mutation_p.R187Q|SNX21_ENST00000372541.1_3'UTR	p.R178Q			Q969T3	SNX21_HUMAN			3	845	+		Myeloproliferative disorder(115;0.0122)	187			PX.		Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Missense_Mutation	SNP	ENST00000491381.1	37	c.533G>A	CCDS13377.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291203	0.80914	.	.	ENSG00000124104	ENST00000491381;ENST00000342644;ENST00000372542	T;T;T	0.38887	1.11;1.11;1.11	4.32	4.32	0.51571	Phox homologous domain (5);	0.132226	0.50627	D	0.000113	T	0.45236	0.1332	L	0.38175	1.15	0.80722	D	1	D;D;D	0.69078	0.958;0.979;0.997	B;P;P	0.54815	0.334;0.483;0.761	T	0.27226	-1.0080	10	0.32370	T	0.25	-20.765	14.1123	0.65129	0.0:0.0:1.0:0.0	.	178;187;187	Q5JZH3;Q969T3;Q5JZH5	.;SNX21_HUMAN;.	Q	187;187;178	ENSP00000418593:R187Q;ENSP00000344586:R187Q;ENSP00000361620:R178Q	ENSP00000344586:R187Q	R	+	2	0	SNX21	43902797	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.487000	0.60293	2.249000	0.74217	0.462000	0.41574	CGG		0.627	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		31	65	0	0	0	0.009535	0	31	65				
STIM2	57620	broad.mit.edu	37	4	27004653	27004653	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:27004653G>A	ENST00000467011.1	+	7	1333	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	STIM2_ENST00000465503.1_Missense_Mutation_p.R303Q|STIM2_ENST00000412829.2_Missense_Mutation_p.R390Q|STIM2_ENST00000467087.1_Missense_Mutation_p.R303Q|STIM2_ENST00000382009.3_Missense_Mutation_p.R390Q|STIM2_ENST00000237364.5_Missense_Mutation_p.R390Q	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	303					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GAGGCTTGTCGGCTGAGAGAG	0.388																																						ENST00000382009.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1168-1170)cGg>cAg		stromal interaction molecule 2							111.0	112.0	111.0					4																	27004653		2203	4300	6503	SO:0001583	missense	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27004653G>A	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.908G>A	4.37:g.27004653G>A	ENSP00000419383:p.Arg303Gln					STIM2_ENST00000237364.5_Missense_Mutation_p.R390Q|STIM2_ENST00000465503.1_Missense_Mutation_p.R303Q|STIM2_ENST00000467011.1_Missense_Mutation_p.R303Q|STIM2_ENST00000412829.2_Missense_Mutation_p.R390Q|STIM2_ENST00000467087.1_Missense_Mutation_p.R303Q	p.R390Q	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN			7	1436	+		Breast(46;0.0503)	303					A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467011.1	37	c.1169G>A	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	G	34	5.359817	0.95854	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519	T;T;T;T;T;T;D	0.88664	-1.36;-1.35;-1.37;-1.36;-1.37;-1.33;-2.41	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.94879	0.8345	M	0.79805	2.47	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.79108	0.992;0.978;0.978;0.99	D	0.94354	0.7582	10	0.56958	D	0.05	.	20.1467	0.98079	0.0:0.0:1.0:0.0	.	303;390;390;390	Q9P246;A6H8L7;E9PGD0;F5GXJ4	STIM2_HUMAN;.;.;.	Q	303;390;390;303;390;303;11	ENSP00000419073:R303Q;ENSP00000371439:R390Q;ENSP00000237364:R390Q;ENSP00000419383:R303Q;ENSP00000404812:R390Q;ENSP00000417569:R303Q;ENSP00000420113:R11Q	ENSP00000237364:R390Q	R	+	2	0	STIM2	26613751	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	9.420000	0.97426	2.838000	0.97847	0.655000	0.94253	CGG		0.388	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860		13	28	0	0	0	0.003163	0	13	28				
ATRIP	84126	broad.mit.edu	37	3	48505262	48505262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:48505262C>T	ENST00000320211.3	+	9	1977	c.1864C>T	c.(1864-1866)Cag>Tag	p.Q622*	ATRIP_ENST00000346691.4_Nonsense_Mutation_p.Q622*|ATRIP_ENST00000357105.6_Nonsense_Mutation_p.Q495*|TREX1_ENST00000436480.2_5'Flank|ATRIP_ENST00000412052.1_Nonsense_Mutation_p.Q529*|TREX1_ENST00000296443.9_5'Flank|TREX1_ENST00000433541.1_5'Flank|TREX1_ENST00000456089.1_5'Flank|TREX1_ENST00000422277.2_5'Flank|TREX1_ENST00000444177.1_5'Flank	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	622					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTGGCACCTCAGCTCTGTTC	0.627								Other conserved DNA damage response genes																														ENST00000412052.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22						c.(1585-1587)Cag>Tag	Other conserved DNA damage response genes	ATR interacting protein							68.0	63.0	65.0					3																	48505262		2203	4300	6503	SO:0001587	stop_gained	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48505262C>T	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.1864C>T	3.37:g.48505262C>T	ENSP00000323099:p.Gln622*					ATRIP_ENST00000320211.3_Nonsense_Mutation_p.Q622*|ATRIP_ENST00000346691.4_Nonsense_Mutation_p.Q622*|ATRIP_ENST00000357105.6_Nonsense_Mutation_p.Q495*	p.Q529*	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	9	2047	+			622					A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Nonsense_Mutation	SNP	ENST00000320211.3	37	c.1585C>T	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	C	37	6.175037	0.97348	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	.	.	.	5.67	5.67	0.87782	.	0.451560	0.25851	N	0.027886	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-5.739	17.2693	0.87096	0.0:1.0:0.0:0.0	.	.	.	.	X	622;622;495;529	.	ENSP00000323099:Q622X	Q	+	1	0	ATRIP	48480266	0.798000	0.28890	0.969000	0.41365	0.767000	0.43475	3.588000	0.53964	2.676000	0.91093	0.655000	0.94253	CAG		0.627	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		5	26	0	0	0	0.000602	0	5	26				
SACS	26278	broad.mit.edu	37	13	23945292	23945292	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:23945292T>A	ENST00000382292.3	-	3	457	c.184A>T	c.(184-186)Atc>Ttc	p.I62F	SACS_ENST00000402364.1_Intron|SACS_ENST00000382298.3_Missense_Mutation_p.I62F			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	62	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCAATCTTGATCCAGTCAGAT	0.303																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(184-186)Atc>Ttc		spastic ataxia of Charlevoix-Saguenay (sacsin)							70.0	66.0	67.0					13																	23945292		1568	3581	5149	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23945292T>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.184A>T	13.37:g.23945292T>A	ENSP00000371729:p.Ile62Phe					SACS_ENST00000402364.1_Intron|SACS_ENST00000382292.3_Missense_Mutation_p.I62F	p.I62F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	4	772	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	62			Ubiquitin-like.		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.184A>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096792	0.36952	.	.	ENSG00000151835	ENST00000382292;ENST00000382298	T;T	0.72942	-0.7;-0.7	4.79	4.79	0.61399	Ubiquitin supergroup (1);Ubiquitin (1);	0.360452	0.29239	N	0.012722	T	0.64227	0.2579	L	0.51422	1.61	0.35147	D	0.769455	B	0.31625	0.332	B	0.35413	0.202	T	0.70033	-0.4983	10	0.33940	T	0.23	.	9.4501	0.38721	0.0:0.0856:0.0:0.9144	.	62	Q9NZJ4	SACS_HUMAN	F	62	ENSP00000371729:I62F;ENSP00000371735:I62F	ENSP00000371729:I62F	I	-	1	0	SACS	22843292	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	3.658000	0.54482	1.778000	0.52293	0.383000	0.25322	ATC		0.303	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		9	21	0	0	0	0.006214	0	9	21				
TTN	7273	broad.mit.edu	37	2	179615732	179615732	+	Intron	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:179615732C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Missense_Mutation_p.E3799K|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			AAAATTTCTTCATCAACAATA	0.343																																						ENST00000360870.5																			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.(11395-11397)Gaa>Aaa		titin							123.0	132.0	129.0					2																	179615732		2198	4295	6493	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615732C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2118G>A	2.37:g.179615732C>T						TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.E3799K	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11617	-			9636		S -> Y (in CMD1G).			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.11395G>A		.	.	.	.	.	.	.	.	.	.	C	24.1	4.494373	0.85069	.	.	ENSG00000155657	ENST00000360870	T	0.60672	0.17	5.33	4.45	0.53987	.	.	.	.	.	T	0.38348	0.1037	L	0.27053	0.805	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.16129	-1.0413	9	0.06099	T	0.92	.	10.1076	0.42544	0.0:0.8365:0.0:0.1635	.	3799	Q8WZ42-6	.	K	3799	ENSP00000354117:E3799K	ENSP00000354117:E3799K	E	-	1	0	TTN	179323977	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	1.990000	0.40717	1.373000	0.46208	0.655000	0.94253	GAA		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	153	0	0	0	0.001168	0	6	153				
GRIK3	2899	broad.mit.edu	37	1	37271712	37271712	+	Silent	SNP	C	C	T	rs114469448	byFrequency	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:37271712C>T	ENST00000373091.3	-	14	2323	c.2307G>A	c.(2305-2307)acG>acA	p.T769T	GRIK3_ENST00000373093.4_Silent_p.T769T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	769					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CACCCATGGGCGTGCCGATGC	0.647													C|||	3	0.000599042	0.0	0.0	5008	,	,		11893	0.003		0.0	False		,,,				2504	0.0					ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(2305-2307)acG>acA		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)	C		0,4406		0,0,2203	107.0	75.0	86.0		2307	-10.1	0.7	1	dbSNP_132	86	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GRIK3	NM_000831.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		769/920	37271712	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37271712C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2307G>A	1.37:g.37271712C>T						GRIK3_ENST00000373093.4_Silent_p.T769T	p.T769T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			14	2323	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	769					A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.2307G>A	CCDS416.1																																																																																				0.647	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		12	35	0	0	0	0.002450	0	12	35				
SNRNP48	154007	broad.mit.edu	37	6	7601613	7601613	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:7601613C>T	ENST00000342415.5	+	5	510	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	151					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAATCACAAACGGTTTGTTTG	0.328																																						ENST00000342415.5																			0				kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(451-453)Cgg>Tgg		small nuclear ribonucleoprotein 48kDa (U11/U12)							119.0	116.0	117.0					6																	7601613		2203	4300	6503	SO:0001583	missense	154007				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	g.chr6:7601613C>T	AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.451C>T	6.37:g.7601613C>T	ENSP00000339834:p.Arg151Trp						p.R151W	NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN			5	510	+			151					A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	ENST00000342415.5	37	c.451C>T	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139220	0.77775	.	.	ENSG00000168566	ENST00000342415	T	0.37752	1.18	5.95	5.08	0.68730	.	0.103749	0.64402	D	0.000002	T	0.45994	0.1370	M	0.77313	2.365	0.40791	D	0.983258	D	0.89917	1.0	D	0.64410	0.925	T	0.55496	-0.8132	10	0.87932	D	0	-11.3372	8.9251	0.35634	0.0:0.834:0.0:0.166	.	151	Q6IEG0	SNR48_HUMAN	W	151	ENSP00000339834:R151W	ENSP00000339834:R151W	R	+	1	2	SNRNP48	7546612	1.000000	0.71417	0.959000	0.39883	0.973000	0.67179	3.932000	0.56537	1.520000	0.48965	0.491000	0.48974	CGG		0.328	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	NM_152551		17	54	0	0	0	0.006122	0	17	54				
MCHR1	2847	broad.mit.edu	37	22	41077104	41077104	+	Silent	SNP	C	C	A	rs200897081		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:41077104C>A	ENST00000249016.4	+	2	1137	c.441C>A	c.(439-441)ccC>ccA	p.P147P	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Silent_p.P147P	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	147					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						ACAACGTCCCCGACATCTTCA	0.562																																						ENST00000249016.4																			0				endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(439-441)ccC>ccA		melanin-concentrating hormone receptor 1							187.0	165.0	172.0					22																	41077104		2203	4300	6503	SO:0001819	synonymous_variant	2847				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077104C>A		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.441C>A	22.37:g.41077104C>A						MCHR1_ENST00000381433.2_Silent_p.P147P|MCHR1_ENST00000498400.1_3'UTR	p.P147P	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN			2	1137	+			147					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Silent	SNP	ENST00000249016.4	37	c.441C>A	CCDS14004.1																																																																																				0.562	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		14	54	1	0	0.000151284	0.001855	0.000163189	14	54				
BNC2	54796	broad.mit.edu	37	9	16419593	16419593	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:16419593G>A	ENST00000380672.4	-	7	2751	c.2694C>T	c.(2692-2694)gaC>gaT	p.D898D	BNC2_ENST00000380667.2_Silent_p.D831D|BNC2_ENST00000545497.1_Silent_p.D803D	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CCAGGCCCATGTCATCGAGTT	0.542																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(2692-2694)gaC>gaT		basonuclin 2							76.0	83.0	81.0					9																	16419593		2201	4297	6498	SO:0001819	synonymous_variant	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16419593G>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2694C>T	9.37:g.16419593G>A						BNC2_ENST00000545497.1_Silent_p.D803D|BNC2_ENST00000380667.2_Silent_p.D831D	p.D898D	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	7	2751	-			898						Silent	SNP	ENST00000380672.4	37	c.2694C>T	CCDS6482.2																																																																																				0.542	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		42	14	0	0	0	0.006999	0	42	14				
ACSL4	2182	broad.mit.edu	37	X	108912328	108912328	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chrX:108912328G>C	ENST00000469796.2	-	10	1596	c.1200C>G	c.(1198-1200)ttC>ttG	p.F400L	ACSL4_ENST00000348502.6_Missense_Mutation_p.F359L|ACSL4_ENST00000340800.2_Missense_Mutation_p.F400L			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	400					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	ACCCTATCTTGAACAGAGTTT	0.323																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(1198-1200)ttC>ttG		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						132.0	127.0	128.0					X																	108912328		2203	4298	6501	SO:0001583	missense	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108912328G>C	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1200C>G	X.37:g.108912328G>C	ENSP00000419171:p.Phe400Leu					ACSL4_ENST00000469796.2_Missense_Mutation_p.F400L|ACSL4_ENST00000348502.6_Missense_Mutation_p.F359L	p.F400L	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN			11	1704	-			400					D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	c.1200C>G	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	g	19.83	3.900618	0.72754	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.39592	1.1;1.07;1.07	5.51	4.16	0.48862	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.52837	0.1759	M	0.74647	2.275	0.80722	D	1	P	0.47409	0.895	P	0.55011	0.766	T	0.47837	-0.9086	10	0.30078	T	0.28	-11.6879	7.6801	0.28509	0.3196:0.0:0.6804:0.0	.	400	O60488	ACSL4_HUMAN	L	359;400;400	ENSP00000262835:F359L;ENSP00000419171:F400L;ENSP00000339787:F400L	ENSP00000339787:F400L	F	-	3	2	ACSL4	108798984	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.220000	0.42908	0.614000	0.30107	0.597000	0.82753	TTC		0.323	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		14	33	0	0	0	0.001855	0	14	33				
ZNF462	58499	broad.mit.edu	37	9	109734354	109734354	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:109734354A>T	ENST00000277225.5	+	8	6785	c.6496A>T	c.(6496-6498)Agg>Tgg	p.R2166W	ZNF462_ENST00000441147.2_Missense_Mutation_p.R1072W|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000542028.1_Missense_Mutation_p.R123W|ZNF462_ENST00000457913.1_Missense_Mutation_p.R2226W			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2166					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGCCCTGGCAAGGAACAACAG	0.527																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(6496-6498)Agg>Tgg		zinc finger protein 462							86.0	87.0	87.0					9																	109734354		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109734354A>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6496A>T	9.37:g.109734354A>T	ENSP00000277225:p.Arg2166Trp					ZNF462_ENST00000441147.2_Missense_Mutation_p.R1072W|ZNF462_ENST00000542028.1_Missense_Mutation_p.R123W|ZNF462_ENST00000457913.1_Missense_Mutation_p.R2226W	p.R2166W			Q96JM2	ZN462_HUMAN			8	6785	+			2166					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.6496A>T	CCDS35096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.2|28.2	4.898145|4.898145	0.91962|0.91962	.|.	.|.	ENSG00000148143|ENSG00000148143	ENST00000427098|ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	.|T;T;T;T;T	.|0.16324	.|3.33;3.79;3.89;3.91;2.35	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.106744	.|0.64402	.|D	.|0.000003	T|T	0.36248|0.36248	0.0960|0.0960	L|L	0.43923|0.43923	1.385|1.385	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.79784	.|0.965;0.993;0.99	T|T	0.03875|0.03875	-1.0996|-1.0996	5|10	.|0.87932	.|D	.|0	.|.	16.8222|16.8222	0.85835|0.85835	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|2226;67;2166	.|Q96JM2-3;Q5T0T2;Q96JM2	.|.;.;ZN462_HUMAN	M|W	67|2166;2226;1109;1072;123	.|ENSP00000277225:R2166W;ENSP00000414570:R2226W;ENSP00000363818:R1109W;ENSP00000397306:R1072W;ENSP00000439771:R123W	.|ENSP00000277225:R2166W	K|R	+|+	2|1	0|2	ZNF462|ZNF462	108774175|108774175	0.997000|0.997000	0.39634|0.39634	0.982000|0.982000	0.44146|0.44146	0.961000|0.961000	0.63080|0.63080	3.664000|3.664000	0.54525|0.54525	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	AAG|AGG		0.527	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		48	15	0	0	0	0.003610	0	48	15				
COL14A1	7373	broad.mit.edu	37	8	121222116	121222116	+	Silent	SNP	G	G	A	rs374310944		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:121222116G>A	ENST00000297848.3	+	12	1713	c.1443G>A	c.(1441-1443)gaG>gaA	p.E481E	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.E386E|COL14A1_ENST00000537875.1_Silent_p.E481E|COL14A1_ENST00000309791.4_Silent_p.E481E	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTCTAACAGAGGGCCTGGCTG	0.413																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(1441-1443)gaG>gaA		collagen, type XIV, alpha 1							84.0	79.0	81.0					8																	121222116		2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121222116G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1443G>A	8.37:g.121222116G>A						COL14A1_ENST00000309791.4_Silent_p.E481E|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.E386E|COL14A1_ENST00000537875.1_Silent_p.E481E	p.E481E	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		12	1713	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		481			Fibronectin type-III 3.			Silent	SNP	ENST00000297848.3	37	c.1443G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	1.534	-0.543476	0.04053	.	.	ENSG00000187955	ENST00000523142	.	.	.	5.31	-1.05	0.10036	.	.	.	.	.	T	0.51041	0.1651	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41052	-0.9530	4	.	.	.	.	6.2467	0.20823	0.611:0.0:0.2499:0.1391	.	.	.	.	R	238	.	.	G	+	1	0	COL14A1	121291297	0.361000	0.24972	0.585000	0.28666	0.300000	0.27592	-0.241000	0.08940	-0.097000	0.12307	0.650000	0.86243	GGG		0.413	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		18	49	0	0	0	0.006122	0	18	49				
PLXNA4	91584	broad.mit.edu	37	7	131870132	131870132	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:131870132G>C	ENST00000359827.3	-	16	4046	c.3084C>G	c.(3082-3084)atC>atG	p.I1028M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.I1028M			Q9HCM2	PLXA4_HUMAN	plexin A4	1028	IPT/TIG 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.I1028M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGTCCTGGTGGATCTTGGCCC	0.557																																						ENST00000359827.3																			2	Substitution - Missense(2)	p.I1028M(2)	lung(2)	NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(3082-3084)atC>atG		plexin A4							129.0	134.0	132.0					7																	131870132		2077	4208	6285	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131870132G>C	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3084C>G	7.37:g.131870132G>C	ENSP00000352882:p.Ile1028Met					PLXNA4_ENST00000321063.4_Missense_Mutation_p.I1028M	p.I1028M			Q9HCM2	PLXA4_HUMAN			16	4046	-			1028			IPT/TIG 2.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3084C>G	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860889	0.51482	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.76968	-1.06;-1.06	5.33	4.45	0.53987	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.160422	0.53938	D	0.000053	T	0.74558	0.3732	M	0.76170	2.325	0.47407	D	0.99941	B	0.22604	0.072	B	0.28553	0.091	T	0.69650	-0.5088	10	0.34782	T	0.22	.	6.6267	0.22833	0.149:0.0:0.706:0.145	.	1028	Q9HCM2	PLXA4_HUMAN	M	1028	ENSP00000323194:I1028M;ENSP00000352882:I1028M	ENSP00000323194:I1028M	I	-	3	3	PLXNA4	131520672	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.012000	0.40932	1.259000	0.44117	0.561000	0.74099	ATC		0.557	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		8	45	0	0	0	0.006214	0	8	45				
PHRF1	57661	broad.mit.edu	37	11	607244	607244	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:607244G>A	ENST00000264555.5	+	14	1916	c.1788G>A	c.(1786-1788)gcG>gcA	p.A596A	PHRF1_ENST00000416188.2_Silent_p.A595A|PHRF1_ENST00000413872.2_Silent_p.A594A|PHRF1_ENST00000533464.1_Silent_p.A592A	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	596					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						CCCGCACCGCGGGGGCGCCTG	0.692																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(1786-1788)gcG>gcA		PHD and ring finger domains 1							36.0	42.0	40.0					11																	607244		1860	4083	5943	SO:0001819	synonymous_variant	57661						RNA polymerase binding|zinc ion binding	g.chr11:607244G>A	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.1788G>A	11.37:g.607244G>A						PHRF1_ENST00000413872.2_Silent_p.A594A|PHRF1_ENST00000416188.2_Silent_p.A595A|PHRF1_ENST00000533464.1_Silent_p.A592A	p.A596A	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			14	1916	+			596					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	ENST00000264555.5	37	c.1788G>A																																																																																					0.692	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		14	44	0	0	0	0.002450	0	14	44				
CYP7B1	9420	broad.mit.edu	37	8	65528763	65528763	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:65528763C>T	ENST00000310193.3	-	3	508	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	CYP7B1_ENST00000523954.1_5'Flank	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	112					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGAAAATACTCGAAAGCTTAA	0.313																																						ENST00000310193.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(334-336)cGa>cAa		cytochrome P450, family 7, subfamily B, polypeptide 1							28.0	28.0	28.0					8																	65528763		2201	4296	6497	SO:0001583	missense	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65528763C>T	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.335G>A	8.37:g.65528763C>T	ENSP00000310721:p.Arg112Gln						p.R112Q	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN			3	508	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	112					B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	c.335G>A	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573228	0.28092	.	.	ENSG00000172817	ENST00000310193	T	0.71817	-0.6	5.15	-7.01	0.01594	.	1.539870	0.03778	N	0.260839	T	0.50274	0.1606	N	0.19112	0.55	0.09310	N	1	B	0.23316	0.083	B	0.22753	0.041	T	0.33701	-0.9858	9	.	.	.	-18.4564	8.4825	0.33052	0.0901:0.3386:0.0:0.5713	.	112	O75881	CP7B1_HUMAN	Q	112	ENSP00000310721:R112Q	.	R	-	2	0	CYP7B1	65691317	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.392000	0.07314	-0.835000	0.04234	-0.140000	0.14226	CGA		0.313	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			3	36	0	0	0	0.004672	0	3	36				
AKAP13	11214	broad.mit.edu	37	15	86286764	86286764	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:86286764C>G	ENST00000394518.2	+	36	8195	c.8100C>G	c.(8098-8100)ttC>ttG	p.F2700L	AKAP13_ENST00000394510.2_Missense_Mutation_p.F945L|AKAP13_ENST00000361243.2_Missense_Mutation_p.F2704L|AKAP13_ENST00000560579.1_3'UTR|RP11-158M2.3_ENST00000558375.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2700	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TCCCATCGTTCTTCCCCAGTC	0.517																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(8098-8100)ttC>ttG		A kinase (PRKA) anchor protein 13							106.0	113.0	111.0					15																	86286764		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86286764C>G	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.8100C>G	15.37:g.86286764C>G	ENSP00000378026:p.Phe2700Leu					AKAP13_ENST00000361243.2_Missense_Mutation_p.F2704L|AKAP13_ENST00000394510.2_Missense_Mutation_p.F945L|AKAP13_ENST00000560579.1_3'UTR	p.F2700L	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			36	8195	+			2700			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.8100C>G	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513882	0.64522	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.42131	0.98;0.98;0.98	5.73	4.81	0.61882	.	.	.	.	.	T	0.56963	0.2021	L	0.59436	1.845	0.29375	N	0.863749	D;D	0.76494	0.999;0.999	D;D	0.68621	0.912;0.959	T	0.50004	-0.8878	9	0.34782	T	0.22	.	11.5257	0.50578	0.0:0.9187:0.0:0.0813	.	2700;2704	Q12802;Q12802-2	AKP13_HUMAN;.	L	2704;2700;2703;2679;945	ENSP00000354718:F2704L;ENSP00000378026:F2700L;ENSP00000378018:F945L	ENSP00000354718:F2704L	F	+	3	2	AKAP13	84087768	0.780000	0.28664	0.953000	0.39169	0.340000	0.28889	1.246000	0.32803	2.721000	0.93114	0.655000	0.94253	TTC		0.517	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		8	58	0	0	0	0.003080	0	8	58				
LRRC16B	90668	broad.mit.edu	37	14	24531703	24531703	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:24531703C>G	ENST00000342740.5	+	28	2649	c.2495C>G	c.(2494-2496)tCa>tGa	p.S832*	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	832						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GTGAAGCTCTCAGTCGTCACC	0.572																																						ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(2494-2496)tCa>tGa		leucine rich repeat containing 16B							162.0	153.0	156.0					14																	24531703		2203	4300	6503	SO:0001587	stop_gained	90668							g.chr14:24531703C>G	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2495C>G	14.37:g.24531703C>G	ENSP00000340467:p.Ser832*					LRRC16B_ENST00000334420.7_5'UTR	p.S832*	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	28	2649	+			832					Q8TEF7|Q96HS9	Nonsense_Mutation	SNP	ENST00000342740.5	37	c.2495C>G	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	C	41	8.611660	0.98884	.	.	ENSG00000186648	ENST00000342740	.	.	.	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-9.5731	15.4894	0.75593	0.0:1.0:0.0:0.0	.	.	.	.	X	832	.	ENSP00000340467:S832X	S	+	2	0	LRRC16B	23601543	1.000000	0.71417	0.957000	0.39632	0.699000	0.40488	6.617000	0.74210	2.513000	0.84729	0.561000	0.74099	TCA		0.572	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		28	110	0	0	0	0.008361	0	28	110				
TRMT5	57570	broad.mit.edu	37	14	61444232	61444232	+	Splice_Site	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:61444232C>A	ENST00000261249.6	-	3	1176	c.792G>T	c.(790-792)aaG>aaT	p.K264N	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2			tRNA methyltransferase 5											NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TAAAATATACCTTTGTCATCA	0.313																																						ENST00000261249.6																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11						c.e3+1		tRNA methyltransferase 5							85.0	89.0	88.0					14																	61444232		2203	4293	6496	SO:0001630	splice_region_variant	57570					cytoplasm	tRNA (guanine-N1-)-methyltransferase activity	g.chr14:61444232C>A	AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	2.1.1.228		23141	protein-coding gene	gene with protein product	"""tRNA (guanine(37)-N1)-methyltransferase"""	611023	"""KIAA1393"", ""tRNA methyltransferase 5 homolog (S. cerevisiae)"""	KIAA1393		15248782	Standard	XM_005267916		Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.792+1G>T	14.37:g.61444232C>A						RP11-193F5.1_ENST00000553946.1_RNA	p.K264_splice	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0873)	3	1176	-			264						Splice_Site	SNP	ENST00000261249.6	37	c.792_splice	CCDS32092.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757663	0.69648	.	.	ENSG00000126814	ENST00000261249	T	0.22134	1.97	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.29256	0.0728	L	0.43152	1.355	0.53005	D	0.999964	P	0.35192	0.489	P	0.45232	0.474	T	0.01848	-1.1261	9	.	.	.	-14.512	18.5979	0.91235	0.0:1.0:0.0:0.0	.	264	Q32P41	TRM5_HUMAN	N	264	ENSP00000261249:K264N	.	K	-	3	2	TRMT5	60513985	1.000000	0.71417	0.993000	0.49108	0.926000	0.56050	4.385000	0.59613	2.628000	0.89032	0.491000	0.48974	AAG		0.313	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412831.1	NM_02081	Missense_Mutation	8	64	1	0	7.48243e-07	0.006214	8.37319e-07	8	64				
HTT	3064	broad.mit.edu	37	4	3225795	3225795	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:3225795A>G	ENST00000355072.5	+	56	7847	c.7702A>G	c.(7702-7704)Att>Gtt	p.I2568V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2568					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAGAGAGAATATTGCCACCCA	0.468																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(7702-7704)Att>Gtt		huntingtin							136.0	146.0	143.0					4																	3225795		2111	4247	6358	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3225795A>G	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.7702A>G	4.37:g.3225795A>G	ENSP00000347184:p.Ile2568Val						p.I2568V	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	56	7847	+		all_epithelial(65;0.18)	2568					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.7702A>G	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.520401	0.00967	.	.	ENSG00000197386	ENST00000355072	T	0.04454	3.62	5.53	0.313	0.15842	.	0.324207	0.33075	N	0.005307	T	0.02727	0.0082	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48636	-0.9018	10	0.06365	T	0.9	.	9.4994	0.39008	0.7324:0.0:0.2676:0.0	.	2568	P42858	HD_HUMAN	V	2568	ENSP00000347184:I2568V	ENSP00000347184:I2568V	I	+	1	0	HTT	3195593	0.998000	0.40836	0.001000	0.08648	0.546000	0.35178	2.687000	0.46976	-0.138000	0.11434	-0.256000	0.11100	ATT		0.468	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		22	82	0	0	0	0.003330	0	22	82				
LRRIQ1	84125	broad.mit.edu	37	12	85500352	85500352	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:85500352G>T	ENST00000393217.2	+	15	3397	c.3336G>T	c.(3334-3336)ttG>ttT	p.L1112F		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1112										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCCATGAATTGTCTCTTACTG	0.338																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(3334-3336)ttG>ttT		leucine-rich repeats and IQ motif containing 1							128.0	128.0	128.0					12																	85500352		2203	4300	6503	SO:0001583	missense	84125							g.chr12:85500352G>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3336G>T	12.37:g.85500352G>T	ENSP00000376910:p.Leu1112Phe						p.L1112F	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	15	3397	+			1112					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.3336G>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907235	0.33628	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	D	0.81499	-1.5	4.79	-3.58	0.04597	.	0.088648	0.38778	N	0.001573	T	0.76162	0.3949	L	0.34521	1.04	0.19775	N	0.99996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.65693	-0.6106	10	0.66056	D	0.02	.	0.5743	0.00701	0.3633:0.1671:0.2612:0.2084	.	1112;1087	Q96JM4;C9JI57	LRIQ1_HUMAN;.	F	1112;1087;1112	ENSP00000376910:L1112F	ENSP00000256007:L1112F	L	+	3	2	LRRIQ1	84024483	0.008000	0.16893	0.569000	0.28460	0.281000	0.26958	-0.434000	0.06939	-0.577000	0.05967	0.557000	0.71058	TTG		0.338	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		8	49	1	0	0.000157383	0.003080	0.000168114	8	49				
KMT2E	55904	broad.mit.edu	37	7	104752438	104752438	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:104752438C>G	ENST00000311117.3	+	27	4780	c.4235C>G	c.(4234-4236)tCa>tGa	p.S1412*	KMT2E_ENST00000334914.7_Nonsense_Mutation_p.S467*|KMT2E_ENST00000334877.4_Nonsense_Mutation_p.S1370*|KMT2E_ENST00000257745.4_Nonsense_Mutation_p.S1412*|SRPK2_ENST00000493638.1_Intron	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1412					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CAAGCACTTTCAAAGAATCAT	0.433																																						ENST00000334877.4																			0											c.(4108-4110)tCa>tGa		lysine (K)-specific methyltransferase 2E							131.0	119.0	123.0					7																	104752438		2203	4300	6503	SO:0001587	stop_gained	55904							g.chr7:104752438C>G	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4235C>G	7.37:g.104752438C>G	ENSP00000312379:p.Ser1412*					KMT2E_ENST00000334914.7_Nonsense_Mutation_p.S467*|KMT2E_ENST00000257745.4_Nonsense_Mutation_p.S1412*|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Nonsense_Mutation_p.S1412*	p.S1370*							26	4643	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Nonsense_Mutation	SNP	ENST00000311117.3	37	c.4109C>G	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	57	29.289113	0.99975	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	.	.	.	5.22	4.28	0.50868	.	0.141596	0.32836	N	0.005595	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	15.2416	0.73474	0.0:0.8592:0.1408:0.0	.	.	.	.	X	1412;1412;1370;1332;1412;467	.	ENSP00000257745:S1412X	S	+	2	0	MLL5	104539674	0.987000	0.35691	1.000000	0.80357	0.997000	0.91878	2.221000	0.42917	2.424000	0.82194	0.650000	0.86243	TCA		0.433	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			17	81	0	0	0	0.008871	0	17	81				
ABCC5	10057	broad.mit.edu	37	3	183703150	183703150	+	Intron	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:183703150C>T	ENST00000334444.6	-	6	832				ABCC5_ENST00000427120.2_3'UTR|ABCC5_ENST00000265586.6_Intron|ABCC5_ENST00000392579.2_Intron|ABCC5_ENST00000382494.2_Missense_Mutation_p.C203Y|ABCC5_ENST00000492216.1_5'Flank	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CCGCAGAATACAGCCATCCTG	0.488																																						ENST00000382494.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(607-609)tGt>tAt		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							143.0	148.0	146.0					3																	183703150		2203	4300	6503	SO:0001627	intron_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183703150C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.592-2355G>A	3.37:g.183703150C>T						ABCC5_ENST00000334444.6_Intron|ABCC5_ENST00000427120.2_3'UTR|ABCC5_ENST00000265586.6_Intron|ABCC5_ENST00000392579.2_Intron	p.C203Y	NM_001023587.1	NP_001018881.1	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		6	722	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		0			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.608G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470922	0.43942	.	.	ENSG00000114770	ENST00000382494	T	0.29397	1.57	5.87	5.87	0.94306	.	.	.	.	.	T	0.44582	0.1300	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.10567	-1.0624	8	0.02654	T	1	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	203	Q86W30	.	Y	203	ENSP00000371934:C203Y	ENSP00000371934:C203Y	C	-	2	0	ABCC5	185185844	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.981000	0.56902	2.780000	0.95670	0.655000	0.94253	TGT		0.488	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		17	132	0	0	0	0.004990	0	17	132				
SPATC1	375686	broad.mit.edu	37	8	145096194	145096194	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:145096194G>A	ENST00000377470.3	+	4	1470	c.1368G>A	c.(1366-1368)agG>agA	p.R456R	SPATC1_ENST00000447830.2_Intron	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	456						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGACCGCAGGATCCTGTCCA	0.622																																						ENST00000377470.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1366-1368)agG>agA		spermatogenesis and centriole associated 1							79.0	58.0	65.0					8																	145096194		2203	4300	6503	SO:0001819	synonymous_variant	375686							g.chr8:145096194G>A	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.1368G>A	8.37:g.145096194G>A						SPATC1_ENST00000447830.2_Intron	p.R456R	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		4	1470	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		456					B4DWW9|Q5U5I8|Q7Z6L7	Silent	SNP	ENST00000377470.3	37	c.1368G>A	CCDS6413.2																																																																																				0.622	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		7	30	0	0	0	0.001984	0	7	30				
NRXN1	9378	broad.mit.edu	37	2	50318511	50318511	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:50318511T>A	ENST00000406316.2	-	19	5144	c.3668A>T	c.(3667-3669)aAt>aTt	p.N1223I	NRXN1_ENST00000342183.5_Missense_Mutation_p.N188I|NRXN1_ENST00000406859.3_Missense_Mutation_p.N1223I|NRXN1_ENST00000401710.1_Missense_Mutation_p.N241I|NRXN1_ENST00000404971.1_Missense_Mutation_p.N1263I|NRXN1_ENST00000405472.3_Missense_Mutation_p.N1215I|NRXN1_ENST00000402717.3_Missense_Mutation_p.N1215I|NRXN1_ENST00000401669.2_Missense_Mutation_p.N1223I	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1223	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAACGTGGCATTGCCACCACT	0.453																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(3787-3789)aAt>aTt		neurexin 1							249.0	218.0	229.0					2																	50318511		2203	4300	6503	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50318511T>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3668A>T	2.37:g.50318511T>A	ENSP00000384311:p.Asn1223Ile					NRXN1_ENST00000401710.1_Missense_Mutation_p.N241I|NRXN1_ENST00000405472.3_Missense_Mutation_p.N1215I|NRXN1_ENST00000401669.2_Missense_Mutation_p.N1223I|NRXN1_ENST00000406859.3_Missense_Mutation_p.N1223I|NRXN1_ENST00000342183.5_Missense_Mutation_p.N188I|NRXN1_ENST00000406316.2_Missense_Mutation_p.N1223I|NRXN1_ENST00000402717.3_Missense_Mutation_p.N1215I	p.N1263I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		20	5127	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	1223			Laminin G-like 6.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.3788A>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.607865	0.87258	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.54	5.54	0.83059	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.56097	U	0.000029	D	0.90096	0.6906	M	0.90759	3.145	0.52099	D	0.999945	D;D;P;D	0.89917	0.999;1.0;0.933;0.981	D;D;P;D	0.87578	0.972;0.998;0.864;0.932	D	0.92167	0.5740	10	0.87932	D	0	.	15.6533	0.77115	0.0:0.0:0.0:1.0	.	1263;188;1223;1215	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	I	188;142;241;1263;1223;1215;1223;1264;1215;1223	ENSP00000341184:N188I;ENSP00000385580:N241I;ENSP00000385142:N1263I;ENSP00000384311:N1223I;ENSP00000434015:N1215I;ENSP00000385017:N1223I;ENSP00000385434:N1215I;ENSP00000385681:N1223I	ENSP00000341184:N188I	N	-	2	0	NRXN1	50172015	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.040000	0.89188	2.100000	0.63781	0.460000	0.39030	AAT		0.453	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			25	128	0	0	0	0.007291	0	25	128				
PES1	23481	broad.mit.edu	37	22	30983347	30983347	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:30983347C>G	ENST00000354694.7	-	4	400	c.294G>C	c.(292-294)aaG>aaC	p.K98N	PES1_ENST00000402284.3_Missense_Mutation_p.K98N|PES1_ENST00000402281.1_5'UTR|PES1_ENST00000405677.1_5'UTR|PES1_ENST00000335214.6_Missense_Mutation_p.K98N	NM_001243225.1|NM_014303.3	NP_001230154.1|NP_055118.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TCCACTCGCTCTTCCCATAAG	0.507																																						ENST00000354694.6																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(292-294)aaG>aaC		pescadillo ribosomal biogenesis factor 1							237.0	195.0	209.0					22																	30983347		2203	4300	6503	SO:0001583	missense	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30983347C>G	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000354694.7:c.294G>C	22.37:g.30983347C>G	ENSP00000346725:p.Lys98Asn					PES1_ENST00000405677.1_5'UTR|PES1_ENST00000335214.6_Missense_Mutation_p.K98N|PES1_ENST00000402281.1_5'UTR|PES1_ENST00000402284.3_Missense_Mutation_p.K98N	p.K98N	NM_001243225.1|NM_014303.3	NP_001230154.1|NP_055118.1	O00541	PESC_HUMAN			4	400	-			98			Sufficient for nucleolar localization.			Missense_Mutation	SNP	ENST00000354694.7	37	c.294G>C	CCDS13880.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258934	0.59321	.	.	ENSG00000100029	ENST00000354694;ENST00000402284;ENST00000335214;ENST00000433575	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.6	1.25	0.21368	.	0.050334	0.85682	D	0.000000	T	0.63165	0.2488	M	0.80746	2.51	0.80722	D	1	D;B;D;D	0.76494	0.999;0.314;0.992;0.999	D;B;P;D	0.65140	0.932;0.285;0.856;0.932	T	0.64672	-0.6352	10	0.46703	T	0.11	-31.5478	10.1646	0.42873	0.0:0.727:0.0:0.273	rs35336734	98;98;98;98	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	N	98	ENSP00000346725:K98N;ENSP00000384252:K98N;ENSP00000334612:K98N;ENSP00000388071:K98N	ENSP00000334612:K98N	K	-	3	2	PES1	29313347	0.962000	0.33011	0.999000	0.59377	0.989000	0.77384	0.428000	0.21395	0.740000	0.32651	0.655000	0.94253	AAG		0.507	PES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321188.3	NM_014303		13	55	0	0	0	0.002450	0	13	55				
NPTXR	23467	broad.mit.edu	37	22	39218697	39218697	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:39218697G>A	ENST00000333039.2	-	5	1543	c.1420C>T	c.(1420-1422)Ccc>Tcc	p.P474S		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	474	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TCTTCCCAGGGAAGGACGTTG	0.617																																					Pancreas(139;2521 3281 36965)	ENST00000333039.2																			0				central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1420-1422)Ccc>Tcc		neuronal pentraxin receptor							60.0	42.0	48.0					22																	39218697		2203	4300	6503	SO:0001583	missense	23467					integral to membrane	metal ion binding	g.chr22:39218697G>A	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1420C>T	22.37:g.39218697G>A	ENSP00000327545:p.Pro474Ser						p.P474S	NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN			5	1543	-	Melanoma(58;0.04)		474			Pentaxin.			Missense_Mutation	SNP	ENST00000333039.2	37	c.1420C>T	CCDS33647.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255775	0.39896	.	.	ENSG00000221890	ENST00000333039	T	0.05513	3.43	3.76	2.61	0.31194	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.192026	0.45361	D	0.000366	T	0.04724	0.0128	N	0.02865	-0.47	0.38700	D	0.952964	D	0.54601	0.967	P	0.51657	0.676	T	0.51687	-0.8674	9	0.26408	T	0.33	-30.0039	13.229	0.59931	0.0:0.1613:0.8387:0.0	.	474	O95502	NPTXR_HUMAN	S	474	ENSP00000327545:P474S	ENSP00000327545:P474S	P	-	1	0	NPTXR	37548643	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	5.696000	0.68287	2.037000	0.60232	0.462000	0.41574	CCC		0.617	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	NM_014293		6	17	0	0	0	0.001168	0	6	17				
SYNE2	23224	broad.mit.edu	37	14	64595181	64595181	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:64595181G>T	ENST00000344113.4	+	74	14141	c.13929G>T	c.(13927-13929)aaG>aaT	p.K4643N	SYNE2_ENST00000357395.3_Missense_Mutation_p.K1028N|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.K1277N|SYNE2_ENST00000394768.2_Missense_Mutation_p.K1028N|SYNE2_ENST00000358025.3_Missense_Mutation_p.K4643N|SYNE2_ENST00000554584.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4643					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATGAAATAAAGAGATTATATC	0.318																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(3082-3084)aaG>aaT		spectrin repeat containing, nuclear envelope 2							77.0	77.0	77.0					14																	64595181		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64595181G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.13929G>T	14.37:g.64595181G>T	ENSP00000341781:p.Lys4643Asn					SYNE2_ENST00000344113.4_Missense_Mutation_p.K4643N|SYNE2_ENST00000394768.2_Missense_Mutation_p.K1028N|SYNE2_ENST00000555002.1_Missense_Mutation_p.K1277N|SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.K4643N	p.K1028N			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	75	14228	+			4643					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.3084G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677472	0.47886	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.44	1.59	0.23543	.	0.105889	0.41194	D	0.000931	T	0.38957	0.1060	L	0.29908	0.895	0.80722	D	1	B;P;D	0.67145	0.167;0.945;0.996	B;P;P	0.60541	0.086;0.552;0.876	T	0.11275	-1.0594	10	0.59425	D	0.04	.	8.7895	0.34841	0.2893:0.0:0.7107:0.0	.	1028;4643;4643	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	N	4643;1028;4643;1277;1028	ENSP00000350719:K4643N;ENSP00000349969:K1028N;ENSP00000341781:K4643N;ENSP00000450831:K1277N;ENSP00000378249:K1028N	ENSP00000341781:K4643N	K	+	3	2	SYNE2	63664934	0.995000	0.38212	0.997000	0.53966	0.980000	0.70556	2.293000	0.43558	0.085000	0.17107	0.561000	0.74099	AAG		0.318	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	49	1	0	0.000157383	0.003080	0.000168114	7	49				
MUC16	94025	broad.mit.edu	37	19	9047546	9047546	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:9047546G>A	ENST00000397910.4	-	5	34288	c.34085C>T	c.(34084-34086)cCc>cTc	p.P11362L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11364	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P11362L(1)|p.P6995L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTGTCCTGGGAACTGTTGT	0.488																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.P11362L(1)|p.P6995L(1)	lung(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(34084-34086)cCc>cTc		mucin 16, cell surface associated							332.0	313.0	319.0					19																	9047546		2045	4198	6243	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047546G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34085C>T	19.37:g.9047546G>A	ENSP00000381008:p.Pro11362Leu						p.P11362L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	34288	-			11364			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34085C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.942	0.743059	0.15642	.	.	ENSG00000181143	ENST00000397910	T	0.03212	4.01	3.56	2.53	0.30540	.	.	.	.	.	T	0.07188	0.0182	L	0.46157	1.445	.	.	.	D	0.54964	0.969	P	0.52758	0.708	T	0.14587	-1.0467	8	0.87932	D	0	.	6.8373	0.23943	0.1269:0.0:0.8731:0.0	.	11362	B5ME49	.	L	11362	ENSP00000381008:P11362L	ENSP00000381008:P11362L	P	-	2	0	MUC16	8908546	0.019000	0.18553	0.001000	0.08648	0.042000	0.13812	0.974000	0.29436	1.078000	0.41014	0.586000	0.80456	CCC		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		33	149	0	0	0	0.004878	0	33	149				
SUPT5H	6829	broad.mit.edu	37	19	39957129	39957129	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:39957129G>A	ENST00000599117.1	+	13	1253	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	SUPT5H_ENST00000432763.2_Missense_Mutation_p.V296M|SUPT5H_ENST00000359191.6_Missense_Mutation_p.V292M|SUPT5H_ENST00000402194.2_Missense_Mutation_p.V292M|SUPT5H_ENST00000598725.1_Missense_Mutation_p.V296M			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	296	KOW 1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGTGGACTACGTGGAGCCCAG	0.592																																						ENST00000599117.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(886-888)Gtg>Atg		suppressor of Ty 5 homolog (S. cerevisiae)							131.0	88.0	102.0					19																	39957129		2203	4300	6503	SO:0001583	missense	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39957129G>A	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.886G>A	19.37:g.39957129G>A	ENSP00000470252:p.Val296Met					SUPT5H_ENST00000402194.2_Missense_Mutation_p.V292M|SUPT5H_ENST00000432763.2_Missense_Mutation_p.V296M|SUPT5H_ENST00000359191.6_Missense_Mutation_p.V292M|SUPT5H_ENST00000598725.1_Missense_Mutation_p.V296M	p.V296M			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		13	1253	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		296			KOW 1.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.886G>A	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419437	0.83559	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.71	4.66	0.58398	KOW (1);	0.000000	0.85682	D	0.000000	T	0.78672	0.4320	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.79757	-0.1669	8	.	.	.	-21.4551	14.0896	0.64980	0.0755:0.0:0.9245:0.0	.	292;296	O00267-2;O00267	.;SPT5H_HUMAN	M	296;292;274;296	.	.	V	+	1	0	SUPT5H	44648969	1.000000	0.71417	0.979000	0.43373	0.842000	0.47809	7.811000	0.86092	2.699000	0.92147	0.655000	0.94253	GTG		0.592	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		13	26	0	0	0	0.001368	0	13	26				
ZNF83	55769	broad.mit.edu	37	19	53116465	53116465	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:53116465G>T	ENST00000597597.1	-	2	3606	c.1353C>A	c.(1351-1353)caC>caA	p.H451Q	ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.H451Q|ZNF83_ENST00000536937.1_Missense_Mutation_p.H451Q|ZNF83_ENST00000391789.4_Missense_Mutation_p.H423Q|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Missense_Mutation_p.H451Q|ZNF83_ENST00000544146.1_Missense_Mutation_p.H451Q|ZNF83_ENST00000545872.1_Missense_Mutation_p.H451Q			P51522	ZNF83_HUMAN	zinc finger protein 83	451					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)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTGTGAATTTTCC	0.388																																						ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1351-1353)caC>caA		zinc finger protein 83							111.0	110.0	111.0					19																	53116465		2203	4300	6503	SO:0001583	missense	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116465G>T	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1353C>A	19.37:g.53116465G>T	ENSP00000472619:p.His451Gln					ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000301096.3_Missense_Mutation_p.H451Q|ZNF83_ENST00000544146.1_Missense_Mutation_p.H451Q|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000536937.1_Missense_Mutation_p.H451Q|ZNF83_ENST00000545872.1_Missense_Mutation_p.H451Q|ZNF83_ENST00000541777.2_Missense_Mutation_p.H451Q|ZNF83_ENST00000391789.4_Missense_Mutation_p.H423Q	p.H451Q			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3606	-			451					A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	c.1353C>A	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	-	13.51	2.257734	0.39896	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	2.26	1.18	0.20946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.80686	0.4670	M	0.88241	2.94	0.25140	N	0.990508	D;D	0.76494	0.999;0.999	D;D	0.80764	0.993;0.994	T	0.67043	-0.5770	9	0.87932	D	0	.	5.3723	0.16146	0.4971:0.0:0.5029:0.0	.	423;451	P51522-2;P51522	.;ZNF83_HUMAN	Q	451;451;451;423;451;451;423	ENSP00000445993:H451Q;ENSP00000301096:H451Q;ENSP00000445470:H451Q;ENSP00000440713:H451Q;ENSP00000439681:H451Q;ENSP00000375666:H423Q	ENSP00000301096:H451Q	H	-	3	2	ZNF83	57808277	0.999000	0.42202	0.003000	0.11579	0.003000	0.03518	1.978000	0.40598	0.119000	0.18210	-0.373000	0.07131	CAC		0.388	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		19	64	1	0	7.45023e-12	0.010504	8.78539e-12	19	64				
BRD4	23476	broad.mit.edu	37	19	15350615	15350615	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:15350615G>A	ENST00000263377.2	-	16	3521	c.3300C>T	c.(3298-3300)tcC>tcT	p.S1100S		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1100	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCTGGACCACGGAGGCAGCAC	0.706			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(3298-3300)tcC>tcT		bromodomain containing 4							45.0	47.0	46.0					19																	15350615		2203	4300	6503	SO:0001819	synonymous_variant	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15350615G>A	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3300C>T	19.37:g.15350615G>A							p.S1100S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		16	3521	-			1100					O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	c.3300C>T	CCDS12328.1																																																																																				0.706	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		21	38	0	0	0	0.012319	0	21	38				
PRKCG	5582	broad.mit.edu	37	19	54392993	54392993	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:54392993G>C	ENST00000263431.3	+	4	669	c.387G>C	c.(385-387)atG>atC	p.M129I	PRKCG_ENST00000540413.1_Missense_Mutation_p.M129I|PRKCG_ENST00000536044.1_Missense_Mutation_p.M129I|PRKCG_ENST00000542049.1_Intron	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	129					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	ACCAGGGCATGAAATGCTCCT	0.632																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(385-387)atG>atC		protein kinase C, gamma							49.0	41.0	44.0					19																	54392993		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54392993G>C	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.387G>C	19.37:g.54392993G>C	ENSP00000263431:p.Met129Ile					PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000540413.1_Missense_Mutation_p.M129I|PRKCG_ENST00000536044.1_Missense_Mutation_p.M129I	p.M129I	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	4	669	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		129					B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.387G>C	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849192	0.71603	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000419486	D;D;D	0.92752	-3.1;-3.1;-3.1	4.75	4.75	0.60458	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	.	.	.	.	D	0.91226	0.7235	L	0.58969	1.84	0.80722	D	1	B;B;B;B	0.17038	0.02;0.011;0.005;0.001	B;B;B;B	0.30495	0.02;0.116;0.013;0.033	D	0.88947	0.3384	9	0.49607	T	0.09	.	15.6779	0.77341	0.0:0.0:1.0:0.0	.	129;129;129;129	F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;KPCG_HUMAN	I	129;129;129;152	ENSP00000440541:M129I;ENSP00000443493:M129I;ENSP00000263431:M129I	ENSP00000263431:M129I	M	+	3	0	PRKCG	59084805	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.455000	0.80726	2.370000	0.80446	0.644000	0.83932	ATG		0.632	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		4	23	0	0	0	0.009096	0	4	23				
PPFIA1	8500	broad.mit.edu	37	11	70171106	70171106	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:70171106C>G	ENST00000253925.7	+	4	735	c.520C>G	c.(520-522)Ctg>Gtg	p.L174V	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.L174V|CTA-797E19.2_ENST00000526017.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	174					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CCACAAAGCTCTGGATGAAAA	0.473																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(520-522)Ctg>Gtg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							63.0	63.0	63.0					11																	70171106		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70171106C>G	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.520C>G	11.37:g.70171106C>G	ENSP00000253925:p.Leu174Val					PPFIA1_ENST00000389547.3_Missense_Mutation_p.L174V|CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA	p.L174V	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		4	735	+			174					A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.520C>G	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907251	0.72868	.	.	ENSG00000131626	ENST00000253925;ENST00000389547	T;T	0.50001	0.76;0.76	5.27	2.33	0.28932	.	0.000000	0.64402	D	0.000011	T	0.49423	0.1556	L	0.27053	0.805	0.47037	D	0.999295	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.47611	-0.9104	10	0.87932	D	0	.	5.817	0.18497	0.0:0.6331:0.1395:0.2274	.	174;174	Q13136;Q13136-2	LIPA1_HUMAN;.	V	174	ENSP00000253925:L174V;ENSP00000374198:L174V	ENSP00000253925:L174V	L	+	1	2	PPFIA1	69848754	0.821000	0.29204	0.543000	0.28128	0.985000	0.73830	1.578000	0.36525	0.286000	0.22352	0.650000	0.86243	CTG		0.473	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		16	341	0	0	0	0.003163	0	16	341				
HYAL2	8692	broad.mit.edu	37	3	50357479	50357479	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:50357479T>C	ENST00000447092.1	-	1	2734	c.442A>G	c.(442-444)Aaa>Gaa	p.K148E	HYAL2_ENST00000442581.1_Missense_Mutation_p.K148E|TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000357750.4_Missense_Mutation_p.K148E|HYAL2_ENST00000395139.3_Missense_Mutation_p.K148E			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	148					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TACACATCTTTGTCCTGCCAG	0.572																																						ENST00000447092.1																			0				breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7						c.(442-444)Aaa>Gaa		hyaluronoglucosaminidase 2	Hyaluronidase(DB00070)						98.0	92.0	94.0					3																	50357479		2203	4300	6503	SO:0001583	missense	8692					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity	g.chr3:50357479T>C	AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.442A>G	3.37:g.50357479T>C	ENSP00000401853:p.Lys148Glu					HYAL2_ENST00000442581.1_Missense_Mutation_p.K148E|HYAL2_ENST00000395139.3_Missense_Mutation_p.K148E|TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000357750.4_Missense_Mutation_p.K148E	p.K148E			Q12891	HYAL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	1	2734	-			148					B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	ENST00000447092.1	37	c.442A>G	CCDS2818.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.047726	0.75846	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.81	5.81	0.92471	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;0.977	D;D	0.97110	1.0;0.966	T	0.69877	-0.5026	10	0.87932	D	0	-28.5587	15.001	0.71473	0.0:0.0:0.0:1.0	.	148;148	B3KRZ2;Q12891	.;HYAL2_HUMAN	E	148	ENSP00000401853:K148E;ENSP00000350387:K148E;ENSP00000378571:K148E;ENSP00000406657:K148E	ENSP00000350387:K148E	K	-	1	0	HYAL2	50332483	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	7.997000	0.88414	2.221000	0.72209	0.455000	0.32223	AAA		0.572	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	NM_003773		36	15	0	0	0	0.005524	0	36	15				
GABRB2	2561	broad.mit.edu	37	5	160758097	160758097	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:160758097G>A	ENST00000393959.1	-	8	869	c.870C>T	c.(868-870)acC>acT	p.T290T	GABRB2_ENST00000517547.1_Silent_p.T130T|GABRB2_ENST00000517901.1_Silent_p.T227T|GABRB2_ENST00000520240.1_Silent_p.T290T|GABRB2_ENST00000274547.2_Silent_p.T290T|GABRB2_ENST00000353437.6_Silent_p.T290T			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	290	Allosteric effector binding. {ECO:0000250}.				cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCCGGAGGTGGGTGTTGATTG	0.423																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(868-870)acC>acT		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						175.0	181.0	179.0					5																	160758097		2203	4300	6503	SO:0001819	synonymous_variant	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160758097G>A		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.870C>T	5.37:g.160758097G>A						GABRB2_ENST00000520240.1_Silent_p.T290T|GABRB2_ENST00000517547.1_Silent_p.T130T|GABRB2_ENST00000393959.1_Silent_p.T290T|GABRB2_ENST00000353437.6_Silent_p.T290T|GABRB2_ENST00000517901.1_Silent_p.T227T	p.T290T	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1087	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	290					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Silent	SNP	ENST00000393959.1	37	c.870C>T	CCDS4355.1																																																																																				0.423	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			14	61	0	0	0	0.002450	0	14	61				
IFIT2	3433	broad.mit.edu	37	10	91066959	91066959	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:91066959C>A	ENST00000371826.3	+	2	1415	c.1246C>A	c.(1246-1248)Caa>Aaa	p.Q416K	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	416					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AGACAAACTGCAAAAAATTGC	0.388																																						ENST00000371826.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12						c.(1246-1248)Caa>Aaa		interferon-induced protein with tetratricopeptide repeats 2							118.0	110.0	113.0					10																	91066959		1832	4090	5922	SO:0001583	missense	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91066959C>A	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.1246C>A	10.37:g.91066959C>A	ENSP00000360891:p.Gln416Lys					LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	p.Q416K	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN			2	1415	+		Colorectal(252;0.0161)	416					Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.1246C>A	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	C	2.001	-0.429522	0.04701	.	.	ENSG00000119922	ENST00000371826	T	0.12879	2.64	4.58	-3.57	0.04612	.	0.334775	0.27056	U	0.021151	T	0.10121	0.0248	M	0.64404	1.975	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.50215	-0.8854	10	0.02654	T	1	-0.2401	11.1459	0.48430	0.3132:0.1794:0.5075:0.0	.	416	P09913	IFIT2_HUMAN	K	416	ENSP00000360891:Q416K	ENSP00000360891:Q416K	Q	+	1	0	IFIT2	91056939	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.757000	0.04772	-0.677000	0.05231	0.655000	0.94253	CAA		0.388	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		23	76	1	0	9.57634e-11	0.003330	1.11329e-10	23	76				
HSF4	3299	broad.mit.edu	37	16	67203679	67203679	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:67203679C>T	ENST00000521374.1	+	13	1470	c.1470C>T	c.(1468-1470)ccC>ccT	p.P490P	HSF4_ENST00000584272.1_Silent_p.P460P|HSF4_ENST00000421453.1_Silent_p.P460P|NOL3_ENST00000432069.2_5'Flank|HSF4_ENST00000264009.8_Silent_p.P490P|NOL3_ENST00000564053.1_5'Flank			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	490					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AAGCCAGTCCCTCCCCCTAAG	0.662											OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264009.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(1468-1470)ccC>ccT		heat shock transcription factor 4							39.0	44.0	43.0					16																	67203679		1849	4069	5918	SO:0001819	synonymous_variant	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67203679C>T	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.1470C>T	16.37:g.67203679C>T			OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1097	HSF4_ENST00000421453.1_Silent_p.P460P|HSF4_ENST00000521374.1_Silent_p.P490P|HSF4_ENST00000584272.1_Silent_p.P460P	p.P490P	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	15	2435	+		Ovarian(137;0.0563)	490					Q99472|Q9ULV6	Silent	SNP	ENST00000521374.1	37	c.1470C>T	CCDS42175.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522090	0.27211	.	.	ENSG00000102878	ENST00000519601;ENST00000520304	.	.	.	4.63	1.39	0.22231	.	.	.	.	.	T	0.45617	0.1351	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25467	-1.0131	4	.	.	.	-13.7187	3.4298	0.07424	0.174:0.5621:0.1686:0.0953	.	.	.	.	F	222;134	.	.	L	+	1	0	HSF4	65761180	0.457000	0.25752	0.984000	0.44739	0.170000	0.22686	0.431000	0.21444	0.225000	0.20959	-0.302000	0.09304	CTC		0.662	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		12	47	0	0	0	0.002450	0	12	47				
MAGEL2	54551	broad.mit.edu	37	15	23890759	23890759	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:23890759C>T	ENST00000532292.1	-	1	416	c.322G>A	c.(322-324)Gct>Act	p.A108T		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AATGATTTAGCGGAGCCCAGG	0.632																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(322-324)Gct>Act		MAGE-like 2							17.0	17.0	17.0					15																	23890759		1855	4089	5944	SO:0001583	missense	54551							g.chr15:23890759C>T	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.322G>A	15.37:g.23890759C>T	ENSP00000433433:p.Ala108Thr						p.A108T	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	416	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.322G>A																																																																																					0.632	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		4	7	0	0	0	0.009096	0	4	7				
LRRC49	54839	broad.mit.edu	37	15	71197029	71197029	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:71197029G>C	ENST00000260382.5	+	5	695	c.435G>C	c.(433-435)caG>caC	p.Q145H	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.Q101H|LRRC49_ENST00000544974.2_Missense_Mutation_p.Q135H|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.Q150H	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	145						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ATGATAACCAGATTGAAGAAA	0.348																																						ENST00000260382.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(433-435)caG>caC		leucine rich repeat containing 49							175.0	178.0	177.0					15																	71197029		2199	4297	6496	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71197029G>C		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.435G>C	15.37:g.71197029G>C	ENSP00000260382:p.Gln145His					LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.Q135H|LRRC49_ENST00000443425.2_Missense_Mutation_p.Q101H|LRRC49_ENST00000560369.1_Missense_Mutation_p.Q150H	p.Q145H	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			5	695	+			145					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.435G>C	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812967	0.32053	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.10382	2.88;2.88;2.88	5.8	-0.77	0.11005	.	0.318727	0.31177	N	0.008115	T	0.09949	0.0244	M	0.65320	2	0.38032	D	0.935208	B;B;B;B;B	0.14012	0.005;0.007;0.009;0.005;0.001	B;B;B;B;B	0.17098	0.011;0.009;0.012;0.017;0.004	T	0.08868	-1.0701	10	0.72032	D	0.01	-7.4033	4.096	0.09991	0.3739:0.0:0.3824:0.2438	.	150;117;101;145;135	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	H	135;145;101;117	ENSP00000439600:Q135H;ENSP00000260382:Q145H;ENSP00000414065:Q101H	ENSP00000260382:Q145H	Q	+	3	2	LRRC49	68984083	0.995000	0.38212	0.995000	0.50966	0.817000	0.46193	0.208000	0.17415	-0.128000	0.11641	-0.251000	0.11542	CAG		0.348	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		32	99	0	0	0	0.002836	0	32	99				
LAMA2	3908	broad.mit.edu	37	6	129621886	129621886	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:129621886G>A	ENST00000421865.2	+	22	3092	c.3043G>A	c.(3043-3045)Gaa>Aaa	p.E1015K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1015	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGAAGCTTGTGAATGTTCTCA	0.378																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(3043-3045)Gaa>Aaa		laminin, alpha 2							103.0	104.0	103.0					6																	129621886		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129621886G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3043G>A	6.37:g.129621886G>A	ENSP00000400365:p.Glu1015Lys						p.E1015K	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	22	3092	+			1015			Laminin EGF-like 11.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3043G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830481	0.50845	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.61742	0.08	5.54	4.62	0.57501	EGF-like, laminin (4);	0.537818	0.19782	N	0.106182	T	0.37919	0.1021	L	0.43701	1.375	0.32129	N	0.58706	B;B	0.29136	0.234;0.234	B;B	0.27715	0.082;0.082	T	0.49418	-0.8942	10	0.72032	D	0.01	.	15.8563	0.78979	0.0:0.1356:0.8643:0.0	.	1015;1015	A6NF00;P24043	.;LAMA2_HUMAN	K	1015	ENSP00000400365:E1015K	ENSP00000346769:E1015K	E	+	1	0	LAMA2	129663579	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	1.714000	0.37961	2.607000	0.88179	0.585000	0.79938	GAA		0.378	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			30	35	0	0	0	0.008361	0	30	35				
RPL32P3	132241	broad.mit.edu	37	3	129112095	129112095	+	RNA	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:129112095C>G	ENST00000514355.1	-	0	718									ribosomal protein L32 pseudogene 3											lung(1)	1						AAGTTCTGATCCAGAGTGTTT	0.527																																						ENST00000514355.1																			0				lung(1)	1																																														132241							g.chr3:129112095C>G	AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129112095C>G														0	718	-									RNA	SNP	ENST00000514355.1	37																																																																																						0.527	RPL32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000355880.1			3	44	0	0	0	0.004672	0	3	44				
TIGD4	201798	broad.mit.edu	37	4	153691231	153691231	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:153691231G>A	ENST00000304337.2	-	2	1746	c.926C>T	c.(925-927)tCa>tTa	p.S309L		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	309	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AGATAAACATGATGGAAAGAA	0.343																																						ENST00000304337.2																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(925-927)tCa>tTa		tigger transposable element derived 4							110.0	115.0	113.0					4																	153691231		2203	4300	6503	SO:0001583	missense	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153691231G>A	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.926C>T	4.37:g.153691231G>A	ENSP00000355162:p.Ser309Leu						p.S309L	NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN			2	1746	-	all_hematologic(180;0.093)		309			DDE.		Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	37	c.926C>T	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550422	0.65311	.	.	ENSG00000169989	ENST00000304337	T	0.44881	0.91	5.7	5.7	0.88788	.	0.177655	0.27420	N	0.019458	T	0.42040	0.1185	L	0.28400	0.85	0.38167	D	0.939214	D	0.53312	0.959	P	0.47603	0.551	T	0.43988	-0.9357	10	0.66056	D	0.02	-12.3055	18.0122	0.89227	0.0:0.0:1.0:0.0	.	309	Q8IY51	TIGD4_HUMAN	L	309	ENSP00000355162:S309L	ENSP00000355162:S309L	S	-	2	0	TIGD4	153910681	0.985000	0.35326	0.991000	0.47740	0.962000	0.63368	5.148000	0.64857	2.861000	0.98227	0.655000	0.94253	TCA		0.343	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		6	46	0	0	0	0.001168	0	6	46				
ZSWIM8	23053	broad.mit.edu	37	10	75552009	75552009	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:75552009G>A	ENST00000605216.1	+	10	1929	c.1712G>A	c.(1711-1713)gGa>gAa	p.G571E	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.G571E|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.G571E|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.G571E|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.G571E	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	571	Gly-rich.						zinc ion binding (GO:0008270)										GCTGAAGGGGGAGATAAAGCT	0.652																																						ENST00000604729.1																			0											c.(1711-1713)gGa>gAa		zinc finger, SWIM-type containing 8							21.0	24.0	23.0					10																	75552009		1919	4107	6026	SO:0001583	missense	23053							g.chr10:75552009G>A	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.1712G>A	10.37:g.75552009G>A	ENSP00000474748:p.Gly571Glu					ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.G571E|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.G571E|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.G571E|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.G571E	p.G571E							10	2009	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.1712G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.55|16.55	3.153895|3.153895	0.57259|0.57259	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000431225|ENST00000398706	.|T	.|0.39787	.|1.06	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.48767	.|U	.|0.000174	T|T	0.39172|0.39172	0.1068|0.1068	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.99999|0.99999	.|P;P;P	.|0.50272	.|0.933;0.933;0.933	.|B;B;B	.|0.41646	.|0.362;0.362;0.362	T|T	0.11275|0.11275	-1.0594|-1.0594	5|10	.|0.30078	.|T	.|0.28	-0.9349|-0.9349	17.0466|17.0466	0.86505|0.86505	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|571;571;571	.|A7E2V4;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.	K|E	68|571	.|ENSP00000381693:G571E	.|ENSP00000381693:G571E	E|G	+|+	1|2	0|0	KIAA0913|KIAA0913	75222015|75222015	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.889000|0.889000	0.51656|0.51656	3.656000|3.656000	0.54467|0.54467	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.652	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		3	35	0	0	0	0.004672	0	3	35				
ZNF596	169270	broad.mit.edu	37	8	195664	195664	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:195664C>A	ENST00000398612.1	+	6	1200	c.817C>A	c.(817-819)Cac>Aac	p.H273N	ZNF596_ENST00000320552.2_Missense_Mutation_p.H203N|ZNF596_ENST00000308811.4_Missense_Mutation_p.H273N	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	273					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TGAGATGATTCACACTAGAGA	0.408																																						ENST00000398612.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14						c.(817-819)Cac>Aac		zinc finger protein 596							72.0	70.0	71.0					8																	195664		2203	4300	6503	SO:0001583	missense	169270				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:195664C>A	BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"""Zinc fingers, C2H2-type"", ""-"""	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.817C>A	8.37:g.195664C>A	ENSP00000381613:p.His273Asn					ZNF596_ENST00000308811.4_Missense_Mutation_p.H273N|ZNF596_ENST00000320552.2_Missense_Mutation_p.H203N	p.H273N	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)	6	1200	+		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)	273					B2R8P4|O95015|Q8N9X0	Missense_Mutation	SNP	ENST00000398612.1	37	c.817C>A	CCDS5951.2	.	.	.	.	.	.	.	.	.	.	.	16.27	3.076046	0.55646	.	.	ENSG00000172748	ENST00000308811;ENST00000320552;ENST00000398612	T;T;T	0.28895	2.38;1.59;2.38	2.62	2.62	0.31277	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63698	0.2533	M	0.94142	3.5	0.33322	D	0.567391	D	0.89917	1.0	D	0.91635	0.999	T	0.77498	-0.2565	9	0.87932	D	0	.	11.4348	0.50062	0.0:1.0:0.0:0.0	.	273	Q8TC21	ZN596_HUMAN	N	273;203;273	ENSP00000310033:H273N;ENSP00000318719:H203N;ENSP00000381613:H273N	ENSP00000310033:H273N	H	+	1	0	ZNF596	185664	0.998000	0.40836	0.077000	0.20336	0.608000	0.37181	4.169000	0.58223	1.792000	0.52537	0.585000	0.79938	CAC		0.408	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	NM_173539		8	59	1	0	0.000274275	0.004482	0.000292028	8	59				
MCF2L	23263	broad.mit.edu	37	13	113748882	113748882	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:113748882C>G	ENST00000375608.3	+	28	3156	c.3098C>G	c.(3097-3099)tCa>tGa	p.S1033*	MCF2L_ENST00000423482.2_Nonsense_Mutation_p.S1001*|MCF2L_ENST00000375601.3_Nonsense_Mutation_p.S1007*|MCF2L_ENST00000421756.1_Nonsense_Mutation_p.S1007*|MCF2L_ENST00000397030.1_Nonsense_Mutation_p.S1036*|MCF2L_ENST00000375604.2_Nonsense_Mutation_p.S1060*|MCF2L_ENST00000442652.2_Nonsense_Mutation_p.S1033*|MCF2L_ENST00000434480.2_Nonsense_Mutation_p.S1009*|MCF2L_ENST00000535094.2_Nonsense_Mutation_p.S1003*			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1033					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGGGGCTGGTCAAGTGCAGAG	0.632																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(3106-3108)tCa>tGa		MCF.2 cell line derived transforming sequence-like							40.0	45.0	44.0					13																	113748882		1561	3581	5142	SO:0001587	stop_gained	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113748882C>G	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.3098C>G	13.37:g.113748882C>G	ENSP00000364758:p.Ser1033*					MCF2L_ENST00000375604.2_Nonsense_Mutation_p.S1060*|MCF2L_ENST00000434480.2_Nonsense_Mutation_p.S1009*|MCF2L_ENST00000423482.2_Nonsense_Mutation_p.S1001*|MCF2L_ENST00000442652.2_Nonsense_Mutation_p.S1033*|MCF2L_ENST00000421756.1_Nonsense_Mutation_p.S1007*|MCF2L_ENST00000375608.3_Nonsense_Mutation_p.S1033*|MCF2L_ENST00000535094.2_Nonsense_Mutation_p.S1003*|MCF2L_ENST00000375601.3_Nonsense_Mutation_p.S1007*	p.S1036*			O15068	MCF2L_HUMAN			27	3144	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	1033					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Nonsense_Mutation	SNP	ENST00000375608.3	37	c.3107C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.289056|7.289056	0.98189|0.98189	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000413354;ENST00000261963;ENST00000420013|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000440749	.|.	.|.	.|.	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.76357|.	0.3976|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.81955|.	-0.0696|.	3|.	.|0.87932	.|D	.|0	.|.	16.9409|16.9409	0.86217|0.86217	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	286;174;75|1033;1033;1060;1036;1003;1007;1007;1009;1001;844	.|.	.|ENSP00000364751:S1007X	Q|S	+|+	1|2	0|0	MCF2L|MCF2L	112796883|112796883	1.000000|1.000000	0.71417|0.71417	0.933000|0.933000	0.37362|0.37362	0.014000|0.014000	0.08584|0.08584	4.767000|4.767000	0.62286|0.62286	2.227000|2.227000	0.72691|0.72691	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.632	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			7	16	0	0	0	0.001984	0	7	16				
NRD1	4898	broad.mit.edu	37	1	52287187	52287187	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:52287187G>C	ENST00000354831.7	-	10	1593	c.1404C>G	c.(1402-1404)ttC>ttG	p.F468L	NRD1_ENST00000544028.1_Missense_Mutation_p.F268L|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.F400L|NRD1_ENST00000539524.1_Missense_Mutation_p.F336L	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	399					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						GTATCTGAGAGAAGATTTCAG	0.373																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(1402-1404)ttC>ttG		nardilysin (N-arginine dibasic convertase)							108.0	101.0	103.0					1																	52287187		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52287187G>C	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1404C>G	1.37:g.52287187G>C	ENSP00000346890:p.Phe468Leu					NRD1_ENST00000352171.7_Missense_Mutation_p.F400L|NRD1_ENST00000544028.1_Missense_Mutation_p.F268L|NRD1_ENST00000539524.1_Missense_Mutation_p.F336L|NRD1_ENST00000485608.1_5'UTR	p.F468L	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			10	1593	-			399					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.1404C>G	CCDS559.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103047	0.76983	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	5.51	4.6	0.57074	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.52155	-0.8613	10	0.59425	D	0.04	-7.55	12.8536	0.57871	0.076:0.0:0.924:0.0	.	400;399;468	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	L	400;468;336;400;268	ENSP00000262679:F400L;ENSP00000346890:F468L;ENSP00000444416:F336L;ENSP00000442262:F268L	ENSP00000262679:F400L	F	-	3	2	NRD1	52059775	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.991000	0.70602	1.322000	0.45245	-0.137000	0.14449	TTC		0.373	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		4	33	0	0	0	0.000602	0	4	33				
VPS8	23355	broad.mit.edu	37	3	184567769	184567769	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:184567769A>G	ENST00000437079.3	+	10	883	c.712A>G	c.(712-714)Aca>Gca	p.T238A	VPS8_ENST00000287546.4_Missense_Mutation_p.T238A|VPS8_ENST00000436792.2_Missense_Mutation_p.T236A|VPS8_ENST00000446204.2_Missense_Mutation_p.T236A	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	238							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AAGATCAATAACAGATGCTCA	0.313																																						ENST00000287546.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(712-714)Aca>Gca		vacuolar protein sorting 8 homolog (S. cerevisiae)							117.0	113.0	114.0					3																	184567769		1832	4078	5910	SO:0001583	missense	23355						zinc ion binding	g.chr3:184567769A>G	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.712A>G	3.37:g.184567769A>G	ENSP00000397879:p.Thr238Ala					VPS8_ENST00000436792.2_Missense_Mutation_p.T236A|VPS8_ENST00000446204.2_Missense_Mutation_p.T236A|VPS8_ENST00000437079.3_Missense_Mutation_p.T238A	p.T238A	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		9	883	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		238					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.712A>G	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.594615	0.66219	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.94739	0.8302	L	0.52573	1.65	0.80722	D	1	D;B	0.61697	0.99;0.167	D;B	0.73380	0.98;0.073	D	0.92552	0.6051	10	0.11794	T	0.64	-20.1507	15.9007	0.79373	1.0:0.0:0.0:0.0	.	236;236	Q8N3P4-2;Q8N3P4-3	.;.	A	238;238;236;236	ENSP00000287546:T238A;ENSP00000397879:T238A;ENSP00000404704:T236A;ENSP00000405483:T236A	ENSP00000287546:T238A	T	+	1	0	VPS8	186050463	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.441000	0.80485	2.162000	0.67917	0.377000	0.23210	ACA		0.313	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		8	46	0	0	0	0.006214	0	8	46				
ACSL5	51703	broad.mit.edu	37	10	114177625	114177625	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:114177625C>A	ENST00000393081.1	+	14	1547	c.1240C>A	c.(1240-1242)Cgt>Agt	p.R414S	ACSL5_ENST00000356116.1_Missense_Mutation_p.R470S|ACSL5_ENST00000433418.1_Missense_Mutation_p.R414S|ACSL5_ENST00000369410.3_Missense_Mutation_p.R196S|ACSL5_ENST00000354273.4_Missense_Mutation_p.R414S|ACSL5_ENST00000354655.4_Missense_Mutation_p.R414S|RP11-324O2.6_ENST00000424422.1_RNA	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	414					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.R470C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CGGAAGGGTTCGTGTAATTGT	0.473																																						ENST00000393081.1																			1	Substitution - Missense(1)	p.R470C(1)	skin(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21						c.(1240-1242)Cgt>Agt		acyl-CoA synthetase long-chain family member 5							173.0	161.0	165.0					10																	114177625		2203	4300	6503	SO:0001583	missense	51703				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr10:114177625C>A	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.1240C>A	10.37:g.114177625C>A	ENSP00000376796:p.Arg414Ser					RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000369410.3_Missense_Mutation_p.R196S|ACSL5_ENST00000433418.1_Missense_Mutation_p.R414S|ACSL5_ENST00000354655.4_Missense_Mutation_p.R414S|ACSL5_ENST00000356116.1_Missense_Mutation_p.R470S|ACSL5_ENST00000354273.4_Missense_Mutation_p.R414S	p.R414S	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.137)	14	1547	+		Colorectal(252;0.117)|Breast(234;0.222)	414					A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000393081.1	37	c.1240C>A	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258086	0.59321	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54	5.14	2.19	0.27852	AMP-dependent synthetase/ligase (1);	0.231471	0.45867	D	0.000326	T	0.63780	0.2540	M	0.92738	3.34	0.47778	D	0.999516	B;B;P;B	0.34955	0.332;0.109;0.477;0.424	B;B;B;B	0.42798	0.398;0.077;0.262;0.365	T	0.63292	-0.6670	10	0.72032	D	0.01	0.4386	6.5736	0.22553	0.135:0.6633:0.1301:0.0717	.	196;414;470;414	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	S	414;414;470;414;414;196	ENSP00000346680:R414S;ENSP00000376796:R414S;ENSP00000348429:R470S;ENSP00000403647:R414S;ENSP00000346223:R414S;ENSP00000358418:R196S	ENSP00000346223:R414S	R	+	1	0	ACSL5	114167615	0.010000	0.17322	0.000000	0.03702	0.032000	0.12392	0.739000	0.26173	0.295000	0.22570	0.655000	0.94253	CGT		0.473	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234		31	25	1	0	3.86903e-22	0.002836	4.66268e-22	31	25				
TTN	7273	broad.mit.edu	37	2	179598082	179598082	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:179598082T>A	ENST00000591111.1	-	52	15211	c.14987A>T	c.(14986-14988)aAc>aTc	p.N4996I	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N4069I|TTN_ENST00000589042.1_Missense_Mutation_p.N5313I|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12375	Ig-like 30.				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)			GGCAACATTGTTTTTAAAACT	0.463																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(15937-15939)aAc>aTc		titin							91.0	89.0	90.0					2																	179598082		1833	4098	5931	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598082T>A	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.14987A>T	2.37:g.179598082T>A	ENSP00000465570:p.Asn4996Ile					TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N4069I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N4996I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.N5313I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		54	16162	-			4996			Ig-like 33.		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.15938A>T		.	.	.	.	.	.	.	.	.	.	T	14.26	2.481800	0.44147	.	.	ENSG00000155657	ENST00000342992	T	0.44083	0.93	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68329	0.2989	M	0.87456	2.885	0.80722	D	1	D	0.67145	0.996	D	0.64877	0.93	T	0.74925	-0.3498	9	0.87932	D	0	.	16.254	0.82501	0.0:0.0:0.0:1.0	.	4996	Q8WZ42	TITIN_HUMAN	I	4069	ENSP00000343764:N4069I	ENSP00000343764:N4069I	N	-	2	0	TTN	179306327	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.036000	0.88901	2.232000	0.73038	0.533000	0.62120	AAC		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	41	0	0	0	0.003330	0	26	41				
PIKFYVE	200576	broad.mit.edu	37	2	209191022	209191022	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:209191022C>T	ENST00000264380.4	+	20	3645	c.3487C>T	c.(3487-3489)Cag>Tag	p.Q1163*		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1163					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGGAAGAATTCAGCCCAAAAA	0.478																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(3487-3489)Cag>Tag		phosphoinositide kinase, FYVE finger containing							72.0	70.0	71.0					2																	209191022		2203	4300	6503	SO:0001587	stop_gained	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209191022C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3487C>T	2.37:g.209191022C>T	ENSP00000264380:p.Gln1163*						p.Q1163*	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			20	3645	+			1163					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Nonsense_Mutation	SNP	ENST00000264380.4	37	c.3487C>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	39	7.327879	0.98214	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	.	.	.	5.58	5.58	0.84498	.	0.243486	0.43260	D	0.000590	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.9871	15.8854	0.79244	0.0:0.8647:0.1353:0.0	.	.	.	.	X	1163;739;1107	.	.	Q	+	1	0	PIKFYVE	208899267	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.566000	0.60843	2.611000	0.88343	0.655000	0.94253	CAG		0.478	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		9	31	0	0	0	0.006214	0	9	31				
MDFIC	29969	broad.mit.edu	37	7	114619638	114619638	+	Missense_Mutation	SNP	G	G	C	rs548881845	byFrequency	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:114619638G>C	ENST00000393486.1	+	4	885	c.295G>C	c.(295-297)Ggc>Cgc	p.G99R	MDFIC_ENST00000257724.3_Missense_Mutation_p.G208R	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						GATAAAGAACGGCCACACAGG	0.473																																						ENST00000257724.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						c.(622-624)Ggc>Cgc		MyoD family inhibitor domain containing							85.0	81.0	83.0					7																	114619638		2203	4300	6503	SO:0001583	missense	29969				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding	g.chr7:114619638G>C	AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.295G>C	7.37:g.114619638G>C	ENSP00000377126:p.Gly99Arg					MDFIC_ENST00000393486.1_Missense_Mutation_p.G99R	p.G208R			Q9P1T7	MDFIC_HUMAN			4	885	+			99			Cys-rich.			Missense_Mutation	SNP	ENST00000393486.1	37	c.622G>C	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546299	0.65198	.	.	ENSG00000135272	ENST00000257724;ENST00000393486;ENST00000427207;ENST00000498196	.	.	.	5.98	3.14	0.36123	.	0.319263	0.28470	N	0.015223	T	0.67429	0.2892	M	0.77103	2.36	0.80722	D	1	D	0.54397	0.966	P	0.56474	0.799	T	0.67684	-0.5607	9	0.56958	D	0.05	0.0177	8.0155	0.30379	0.1349:0.0:0.7227:0.1424	.	99	Q9P1T7	MDFIC_HUMAN	R	208;99;85;44	.	ENSP00000257724:G208R	G	+	1	0	MDFIC	114406874	0.962000	0.33011	0.742000	0.31022	0.627000	0.37826	1.491000	0.35583	0.793000	0.33875	0.591000	0.81541	GGC		0.473	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	NM_199072		16	20	0	0	0	0.004007	0	16	20				
IL4R	3566	broad.mit.edu	37	16	27363876	27363876	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:27363876G>A	ENST00000395762.2	+	7	788	c.529G>A	c.(529-531)Gtg>Atg	p.V177M	IL4R_ENST00000449195.1_Missense_Mutation_p.V177M|IL4R_ENST00000170630.2_Missense_Mutation_p.V177M|IL4R_ENST00000543915.2_Missense_Mutation_p.V177M|IL4R_ENST00000380922.3_Missense_Mutation_p.V162M	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	177	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AATCTATAACGTGACCTACCT	0.592																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(529-531)Gtg>Atg		interleukin 4 receptor							81.0	71.0	74.0					16																	27363876		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27363876G>A	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.529G>A	16.37:g.27363876G>A	ENSP00000379111:p.Val177Met					IL4R_ENST00000543915.2_Missense_Mutation_p.V177M|IL4R_ENST00000170630.2_Missense_Mutation_p.V177M|IL4R_ENST00000449195.1_Missense_Mutation_p.V177M|IL4R_ENST00000380922.3_Missense_Mutation_p.V162M	p.V177M	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			7	788	+			177			Fibronectin type-III.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.529G>A	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379971	0.42207	.	.	ENSG00000077238	ENST00000380925;ENST00000449195;ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	3.67	0.524	0.17066	Fibronectin, type III (3);Immunoglobulin-like fold (1);	7.506760	0.00166	N	0.000001	T	0.79076	0.4385	M	0.73598	2.24	0.23138	N	0.998238	D;D;D;D	0.89917	0.999;0.998;0.998;1.0	P;P;P;D	0.68192	0.835;0.827;0.827;0.956	T	0.53436	-0.8439	10	0.56958	D	0.05	-5.4454	3.5784	0.07943	0.2395:0.2128:0.5477:0.0	.	162;177;177;177	B4E076;B9EGC0;P24394;P24394-2	.;.;IL4RA_HUMAN;.	M	177;177;177;177;162;177	ENSP00000410322:V177M;ENSP00000379111:V177M;ENSP00000441667:V177M;ENSP00000370309:V162M;ENSP00000170630:V177M	ENSP00000170630:V177M	V	+	1	0	IL4R	27271377	0.824000	0.29247	0.228000	0.23943	0.062000	0.15995	0.919000	0.28692	0.154000	0.19237	0.650000	0.86243	GTG		0.592	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			18	60	0	0	0	0.004990	0	18	60				
DPM1	8813	broad.mit.edu	37	20	49562395	49562395	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:49562395G>A	ENST00000371588.5	-	4	387	c.361C>T	c.(361-363)Ctc>Ttc	p.L121F	RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000371582.4_Missense_Mutation_p.L121F|DPM1_ENST00000371583.5_Missense_Mutation_p.L121F|DPM1_ENST00000466152.1_5'UTR	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	121					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						TGGTGTGAGAGATCAGCATCC	0.323																																						ENST00000371582.4																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						c.(361-363)Ctc>Ttc		dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit							121.0	114.0	116.0					20																	49562395		2203	4297	6500	SO:0001583	missense	8813				C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding	g.chr20:49562395G>A	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742	ENST00000371588.5:c.361C>T	20.37:g.49562395G>A	ENSP00000360644:p.Leu121Phe					DPM1_ENST00000371583.5_Missense_Mutation_p.L121F|DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371588.5_Missense_Mutation_p.L121F	p.L121F			O60762	DPM1_HUMAN			4	392	-			121					O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.361C>T	CCDS13434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.44|17.44	3.390059|3.390059	0.61956|0.61956	.|.	.|.	ENSG00000000419|ENSG00000000419	ENST00000371588;ENST00000371582;ENST00000449701;ENST00000371583;ENST00000413082|ENST00000371584	T;T;T;T|.	0.60040|.	0.22;0.22;0.22;0.22|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Glycosyl transferase, family 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55386|0.55386	0.1917|0.1917	N|N	0.20610|0.20610	0.595|0.595	0.80722|0.80722	D|D	1|1	B;B|.	0.28850|.	0.19;0.225|.	B;B|.	0.44044|.	0.308;0.439|.	T|T	0.47275|0.47275	-0.9130|-0.9130	9|5	.|.	.|.	.|.	-11.9686|-11.9686	19.9157|19.9157	0.97061|0.97061	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	121;121|.	O60762;E9PBD4|.	DPM1_HUMAN;.|.	F|F	121|120	ENSP00000360644:L121F;ENSP00000360638:L121F;ENSP00000360639:L121F;ENSP00000394921:L121F|.	.|.	L|S	-|-	1|2	0|0	DPM1|DPM1	48995802|48995802	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	7.315000|7.315000	0.78998|0.78998	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.323	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		32	43	0	0	0	0.002836	0	32	43				
FBXO32	114907	broad.mit.edu	37	8	124526525	124526525	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:124526525C>T	ENST00000517956.1	-	5	612	c.421G>A	c.(421-423)Gcc>Acc	p.A141T	FBXO32_ENST00000443022.2_Intron	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	141					cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894)	nucleolus (GO:0005730)|Z disc (GO:0030018)				autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCTTTTGGGCGATGCCACTC	0.448																																						ENST00000517956.1																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21						c.(421-423)Gcc>Acc		F-box protein 32							80.0	67.0	71.0					8																	124526525		2203	4300	6503	SO:0001583	missense	114907							g.chr8:124526525C>T	AJ420108	CCDS6345.1, CCDS56553.1	8q24.13	2008-01-28	2004-06-15		ENSG00000156804	ENSG00000156804		"""F-boxes /  ""other"""""	16731	protein-coding gene	gene with protein product		606604	"""F-box only protein 32"""			11679633, 11717410	Standard	NM_058229		Approved	MAFbx, ATROGIN1, Fbx32	uc003yqr.3	Q969P5	OTTHUMG00000164981	ENST00000517956.1:c.421G>A	8.37:g.124526525C>T	ENSP00000428205:p.Ala141Thr					FBXO32_ENST00000443022.2_Intron	p.A141T	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		5	612	-	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		141					A4KYM0	Missense_Mutation	SNP	ENST00000517956.1	37	c.421G>A	CCDS6345.1	.	.	.	.	.	.	.	.	.	.	C	36	5.645087	0.96704	.	.	ENSG00000156804	ENST00000517956	T	0.20463	2.07	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.65656	-0.6115	10	0.87932	D	0	-8.6482	19.5555	0.95345	0.0:1.0:0.0:0.0	.	141	Q969P5	FBX32_HUMAN	T	141	ENSP00000428205:A141T	ENSP00000428205:A141T	A	-	1	0	FBXO32	124595706	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.619000	0.88677	0.491000	0.48974	GCC		0.448	FBXO32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381281.1			4	31	0	0	0	0.000602	0	4	31				
PLXND1	23129	broad.mit.edu	37	3	129293182	129293182	+	Silent	SNP	G	G	A	rs570018041		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:129293182G>A	ENST00000324093.4	-	12	2860	c.2682C>T	c.(2680-2682)caC>caT	p.H894H	PLXND1_ENST00000393239.1_Silent_p.H894H	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	894	IPT/TIG 1.		H -> R (in dbSNP:rs2625962). {ECO:0000269|PubMed:12412018, ECO:0000269|PubMed:9734811}.		angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGCTTACCGCGTGGATCTCGG	0.701													G|||	1	0.000199681	0.0	0.0	5008	,	,		15551	0.001		0.0	False		,,,				2504	0.0				Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(2680-2682)caC>caT		plexin D1							9.0	11.0	11.0					3																	129293182		2177	4259	6436	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129293182G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.2682C>T	3.37:g.129293182G>A						PLXND1_ENST00000324093.4_Silent_p.H894H	p.H894H			Q9Y4D7	PLXD1_HUMAN			12	2860	-			894		H -> R (in dbSNP:rs2625962).	IPT/TIG 1.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.2682C>T	CCDS33854.1																																																																																				0.701	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		3	11	0	0	0	0.004672	0	3	11				
DDX53	168400	broad.mit.edu	37	X	23018798	23018798	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chrX:23018798G>C	ENST00000327968.5	+	1	712	c.624G>C	c.(622-624)ttG>ttC	p.L208F	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	208						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GTGATGACTTGAAAAGTGGTG	0.378																																						ENST00000327968.5																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						c.(622-624)ttG>ttC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							100.0	98.0	99.0					X																	23018798		2203	4299	6502	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23018798G>C	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.624G>C	X.37:g.23018798G>C	ENSP00000368667:p.Leu208Phe					RP11-40F8.2_ENST00000455399.1_RNA	p.L208F	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN			1	712	+			208					Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.624G>C	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471618	0.43942	.	.	ENSG00000184735	ENST00000327968	T	0.22539	1.95	4.41	3.54	0.40534	.	0.000000	0.64402	D	0.000004	T	0.32734	0.0839	L	0.42245	1.32	0.31694	N	0.641506	D	0.89917	1.0	D	0.87578	0.998	T	0.29027	-1.0025	10	0.49607	T	0.09	0.8626	6.7651	0.23562	0.2249:0.0:0.7751:0.0	.	208	Q86TM3	DDX53_HUMAN	F	208	ENSP00000368667:L208F	ENSP00000368667:L208F	L	+	3	2	DDX53	22928719	1.000000	0.71417	0.095000	0.20976	0.228000	0.25075	0.717000	0.25851	0.806000	0.34183	0.600000	0.82982	TTG		0.378	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		15	14	0	0	0	0.004007	0	15	14				
OLFML2B	25903	broad.mit.edu	37	1	161953788	161953788	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:161953788C>A	ENST00000294794.3	-	8	2353	c.1930G>T	c.(1930-1932)Gag>Tag	p.E644*	OLFML2B_ENST00000367940.2_Nonsense_Mutation_p.E645*|OLFML2B_ENST00000367938.1_Nonsense_Mutation_p.E127*	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	644	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ACAATGACCTCCTGGCTGAAG	0.607																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1930-1932)Gag>Tag		olfactomedin-like 2B							82.0	73.0	76.0					1																	161953788		2203	4300	6503	SO:0001587	stop_gained	25903							g.chr1:161953788C>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1930G>T	1.37:g.161953788C>A	ENSP00000294794:p.Glu644*					OLFML2B_ENST00000367940.2_Nonsense_Mutation_p.E645*|OLFML2B_ENST00000367938.1_Nonsense_Mutation_p.E127*	p.E644*	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2353	-	all_hematologic(112;0.156)		644			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Nonsense_Mutation	SNP	ENST00000294794.3	37	c.1930G>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	42	9.389174	0.99156	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.5695	0.84607	0.0:1.0:0.0:0.0	.	.	.	.	X	644;645;127	.	ENSP00000294794:E644X	E	-	1	0	OLFML2B	160220412	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.707000	0.84623	2.491000	0.84063	0.561000	0.74099	GAG		0.607	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		38	8	1	0	2.35968e-33	0.005524	2.88601e-33	38	8				
UHRF1	29128	broad.mit.edu	37	19	4960672	4960672	+	RNA	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:4960672G>A	ENST00000592666.1	+	0	2815							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TTACAGGACTGCCTGGACAGA	0.617																																						ENST00000592666.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1							24.0	29.0	27.0					19																	4960672		2105	4228	6333			29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4960672G>A	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4960672G>A										Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	2815	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	ENST00000592666.1	37			.	.	.	.	.	.	.	.	.	.	G	16.69	3.194110	0.58017	.	.	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.43	4.43	0.53597	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);	0.054948	0.85682	D	0.000000	T	0.80433	0.4622	.	.	.	0.49130	D	0.999757	D;D	0.89917	0.998;1.0	D;D	0.91635	0.991;0.999	D	0.84265	0.0485	7	0.87932	D	0	-17.8285	17.448	0.87584	0.0:0.0:1.0:0.0	.	760;747	Q2HIX7;Q96T88	.;UHRF1_HUMAN	Y	746;361;746;746;759	.	ENSP00000262952:C746Y	C	+	2	0	UHRF1	4911672	1.000000	0.71417	0.994000	0.49952	0.180000	0.23129	9.711000	0.98735	2.191000	0.70037	0.561000	0.74099	TGC		0.617	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		6	18	0	0	0	0.001168	0	6	18				
COMMD8	54951	broad.mit.edu	37	4	47458656	47458656	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:47458656G>C	ENST00000381571.4	-	3	380	c.313C>G	c.(313-315)Ctg>Gtg	p.L105V		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	105										large_intestine(2)|lung(5)|prostate(1)	8						TCTCTTGACAGAGCCTGTTTG	0.328																																						ENST00000381571.4																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(313-315)Ctg>Gtg		COMM domain containing 8							173.0	180.0	178.0					4																	47458656		2203	4300	6503	SO:0001583	missense	54951						protein binding	g.chr4:47458656G>C	AY542163	CCDS3475.1	4p12	2008-02-05			ENSG00000169019	ENSG00000169019			26036	protein-coding gene	gene with protein product						15799966	Standard	NM_017845		Approved	FLJ20502	uc003gxi.3	Q9NX08	OTTHUMG00000099435	ENST00000381571.4:c.313C>G	4.37:g.47458656G>C	ENSP00000370984:p.Leu105Val						p.L105V	NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN			3	380	-			105					Q8WUR4|Q9HC15	Missense_Mutation	SNP	ENST00000381571.4	37	c.313C>G	CCDS3475.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987260	0.53934	.	.	ENSG00000169019	ENST00000381571	T	0.16196	2.36	5.82	4.98	0.66077	.	0.062748	0.64402	D	0.000004	T	0.19725	0.0474	L	0.55990	1.75	0.44477	D	0.997416	P	0.51933	0.949	P	0.47573	0.55	T	0.02491	-1.1151	10	0.36615	T	0.2	-19.1677	6.4786	0.22049	0.1572:0.1505:0.6923:0.0	.	105	Q9NX08	COMD8_HUMAN	V	105	ENSP00000370984:L105V	ENSP00000370984:L105V	L	-	1	2	COMMD8	47153413	1.000000	0.71417	0.994000	0.49952	0.910000	0.53928	3.385000	0.52485	1.477000	0.48234	0.555000	0.69702	CTG		0.328	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216898.2	NM_017845		19	82	0	0	0	0.008871	0	19	82				
GIMAP1	170575	broad.mit.edu	37	7	150417901	150417901	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:150417901C>T	ENST00000307194.5	+	3	949	c.809C>T	c.(808-810)tCc>tTc	p.S270F		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	270					B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCTGAAGTCCCCCAGGAGC	0.741																																						ENST00000307194.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(808-810)tCc>tTc		GTPase, IMAP family member 1							6.0	7.0	6.0					7																	150417901		2108	4159	6267	SO:0001583	missense	170575							g.chr7:150417901C>T	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.809C>T	7.37:g.150417901C>T	ENSP00000302833:p.Ser270Phe						p.S270F	NM_130759.3	NP_570115.1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	949	+								B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.809C>T	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	C	8.429	0.848100	0.17034	.	.	ENSG00000213203	ENST00000307194	T	0.06371	3.31	3.61	-2.4	0.06583	.	19.046700	0.01137	U	0.006111	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40194	-0.9576	10	0.52906	T	0.07	.	2.814	0.05451	0.3293:0.3253:0.0:0.3454	.	270	Q8WWP7	GIMA1_HUMAN	F	270	ENSP00000302833:S270F	ENSP00000302833:S270F	S	+	2	0	GIMAP1	150048834	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.821000	0.04452	-0.491000	0.06697	0.650000	0.86243	TCC		0.741	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		5	4	0	0	0	0.000602	0	5	4				
TOMM40	10452	broad.mit.edu	37	19	45395690	45395690	+	Silent	SNP	C	C	A	rs142332544		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:45395690C>A	ENST00000426677.2	+	2	495	c.315C>A	c.(313-315)gtC>gtA	p.V105V	TOMM40_ENST00000405636.2_Silent_p.V105V|TOMM40_ENST00000252487.5_Silent_p.V105V|TOMM40_ENST00000592434.1_Silent_p.V105V|CTB-129P6.4_ENST00000585408.1_RNA	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	105					cellular protein metabolic process (GO:0044267)|ion transport (GO:0006811)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane translocase complex (GO:0005742)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein transmembrane transporter activity (GO:0008320)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		AGCTCACAGTCAACAAAGGGT	0.552																																						ENST00000592434.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						c.(313-315)gtC>gtA		translocase of outer mitochondrial membrane 40 homolog (yeast)							199.0	166.0	177.0					19																	45395690		2203	4300	6503	SO:0001819	synonymous_variant	10452				protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity	g.chr19:45395690C>A	AF043250	CCDS12646.1	19q13	2008-07-04				ENSG00000130204			18001	protein-coding gene	gene with protein product		608061				10980201, 15644312	Standard	NM_006114		Approved	PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1	uc002paa.4	O96008		ENST00000426677.2:c.315C>A	19.37:g.45395690C>A						TOMM40_ENST00000252487.5_Silent_p.V105V|TOMM40_ENST00000426677.2_Silent_p.V105V|TOMM40_ENST00000405636.2_Silent_p.V105V	p.V105V			O96008	TOM40_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)	3	408	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)		105					Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Silent	SNP	ENST00000426677.2	37	c.315C>A	CCDS12646.1																																																																																				0.552	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453241.1			10	59	1	0	0.00010058	0.001368	0.000108851	10	59				
ZNF701	55762	broad.mit.edu	37	19	53086538	53086538	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:53086538G>C	ENST00000540331.1	+	5	1649	c.1424G>C	c.(1423-1425)cGt>cCt	p.R475P	ZNF701_ENST00000391785.3_Missense_Mutation_p.R409P|ZNF701_ENST00000301093.2_Missense_Mutation_p.R475P|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GGAGAGAAACGTTACAAGTGT	0.373																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(1423-1425)cGt>cCt		zinc finger protein 701							63.0	60.0	61.0					19																	53086538		2203	4300	6503	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53086538G>C	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1424G>C	19.37:g.53086538G>C	ENSP00000444339:p.Arg475Pro					ZNF701_ENST00000391785.3_Missense_Mutation_p.R409P|ZNF701_ENST00000301093.2_Missense_Mutation_p.R475P|CTD-3099C6.7_ENST00000599222.1_RNA	p.R475P	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	5	1649	+			409					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.1424G>C	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.641364	0.00112	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.10382	2.88;2.88;2.88	1.98	0.883	0.19177	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01558	0.0050	N	0.00045	-2.445	0.24925	N	0.991953	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.43523	-0.9386	9	0.02654	T	1	.	9.151	0.36962	0.0:0.7686:0.2314:0.0	.	475;409	F5GZM6;Q9NV72	.;ZN701_HUMAN	P	409;475;475	ENSP00000375662:R409P;ENSP00000301093:R475P;ENSP00000444339:R475P	ENSP00000301093:R475P	R	+	2	0	ZNF701	57778350	0.028000	0.19301	0.134000	0.22075	0.177000	0.22998	0.791000	0.26915	0.156000	0.19299	-0.384000	0.06662	CGT		0.373	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		5	41	0	0	0	0.001984	0	5	41				
XKR4	114786	broad.mit.edu	37	8	56436490	56436490	+	Missense_Mutation	SNP	C	C	T	rs145363139		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:56436490C>T	ENST00000327381.6	+	3	1757	c.1657C>T	c.(1657-1659)Cgc>Tgc	p.R553C	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	553						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTCCAACAACCGCAGTGTTGT	0.587																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1657-1659)Cgc>Tgc		XK, Kell blood group complex subunit-related family, member 4		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	66.0	68.0	67.0		1657	5.9	1.0	8	dbSNP_134	67	0,8600		0,0,4300	no	missense	XKR4	NM_052898.1	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	553/651	56436490	1,13005	2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56436490C>T	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1657C>T	8.37:g.56436490C>T	ENSP00000328326:p.Arg553Cys						p.R553C	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1757	+			553					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1657C>T	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287087	0.59867	2.27E-4	0.0	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.84944	-1.92	5.95	5.95	0.96441	.	0.366493	0.32655	N	0.005816	D	0.90120	0.6913	L	0.41492	1.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89683	0.3892	10	0.56958	D	0.05	0.8557	20.3932	0.98965	0.0:1.0:0.0:0.0	.	553	Q5GH76	XKR4_HUMAN	C	553	ENSP00000328326:R553C	ENSP00000328326:R553C	R	+	1	0	XKR4	56599044	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	CGC		0.587	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		30	73	0	0	0	0.007291	0	30	73				
CILP	8483	broad.mit.edu	37	15	65490630	65490630	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:65490630C>G	ENST00000261883.4	-	9	2160	c.1994G>C	c.(1993-1995)aGa>aCa	p.R665T		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	665					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GACCTCATCTCTGAAGTCCAC	0.512																																						ENST00000261883.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(1993-1995)aGa>aCa		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							130.0	119.0	122.0					15																	65490630		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65490630C>G	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1994G>C	15.37:g.65490630C>G	ENSP00000261883:p.Arg665Thr						p.R665T	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			9	2160	-			665					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.1994G>C	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	7.405	0.633481	0.14322	.	.	ENSG00000138615	ENST00000261883	T	0.42513	0.97	5.5	-3.56	0.04626	.	0.412136	0.30293	N	0.009943	T	0.29491	0.0735	N	0.16368	0.405	0.39275	D	0.964461	B	0.02656	0.0	B	0.04013	0.001	T	0.03493	-1.1031	10	0.31617	T	0.26	-22.6671	24.8989	0.99992	0.0:0.7587:0.2413:0.0	.	665	O75339	CILP1_HUMAN	T	665	ENSP00000261883:R665T	ENSP00000261883:R665T	R	-	2	0	CILP	63277683	0.013000	0.17824	0.891000	0.34965	0.992000	0.81027	0.163000	0.16520	-1.092000	0.03062	-0.344000	0.07964	AGA		0.512	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		14	58	0	0	0	0.002450	0	14	58				
ALG11	440138	broad.mit.edu	37	13	52586554	52586554	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:52586554G>A	ENST00000521508.1	+	0	5				ATP7B_ENST00000400370.3_5'Flank|ATP7B_ENST00000448424.2_5'Flank|ATP7B_ENST00000344297.5_5'Flank|ATP7B_ENST00000242839.4_5'Flank|ATP7B_ENST00000418097.2_5'Flank|ALG11_ENST00000523764.1_De_novo_Start_InFrame|ATP7B_ENST00000400366.3_5'Flank	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GTCGGCGGAAGATGGCGGCCG	0.597																																						ENST00000521508.1																			0				endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13								ALG11, alpha-1,2-mannosyltransferase							72.0	72.0	72.0					13																	52586554		2203	4300	6503			440138							g.chr13:52586554G>A	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959		13.37:g.52586554G>A						ALG11_ENST00000523764.1_De_novo_Start_InFrame		NM_001004127.2	NP_001004127.2				GBM - Glioblastoma multiforme(99;2.44e-08)	0	5	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)						A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Translation_Start_Site	SNP	ENST00000521508.1	37		CCDS31977.1																																																																																				0.597	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		11	23	0	0	0	0.001855	0	11	23				
REN	5972	broad.mit.edu	37	1	204124947	204124947	+	Splice_Site	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:204124947C>A	ENST00000272190.8	-	9	1088		c.e9+1		REN_ENST00000367195.2_Splice_Site	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin						angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TCGAACCTCACCTGAAATACA	0.532																																						ENST00000367195.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19						c.e8+1		renin	Aliskiren(DB01258)|Remikiren(DB00212)						50.0	48.0	49.0					1																	204124947		2203	4300	6503	SO:0001630	splice_region_variant	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204124947C>A	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.1059+1G>T	1.37:g.204124947C>A						REN_ENST00000272190.8_Splice_Site				P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		8	1094	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)							Q6FI38|Q6T5C2	Splice_Site	SNP	ENST00000272190.8	37		CCDS30981.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606279	0.46527	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	.	.	.	3.46	3.46	0.39613	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4056	0.74874	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	REN	202391570	1.000000	0.71417	0.999000	0.59377	0.438000	0.31896	6.815000	0.75242	1.866000	0.54105	0.467000	0.42956	.		0.532	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537	Intron	12	5	1	0	7.03913e-09	0.001368	8.09746e-09	12	5				
CYP26A1	1592	broad.mit.edu	37	10	94835689	94835689	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:94835689A>G	ENST00000224356.4	+	5	1016	c.971A>G	c.(970-972)cAg>cGg	p.Q324R	CYP26A1_ENST00000371531.1_Missense_Mutation_p.Q255R|CYP26A1_ENST00000394139.1_Missense_Mutation_p.Q255R	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	324					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	CATGTTCTCCAGAAAGTGCGA	0.512																																						ENST00000371531.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(763-765)cAg>cGg		cytochrome P450, family 26, subfamily A, polypeptide 1							70.0	66.0	68.0					10																	94835689		2203	4300	6503	SO:0001583	missense	1592				negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94835689A>G	AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"""Cytochrome P450s"""	2603	protein-coding gene	gene with protein product		602239	"""cytochrome P450, subfamily XXVIA, polypeptide 1"""			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.971A>G	10.37:g.94835689A>G	ENSP00000224356:p.Gln324Arg					CYP26A1_ENST00000224356.4_Missense_Mutation_p.Q324R|CYP26A1_ENST00000394139.1_Missense_Mutation_p.Q255R	p.Q255R	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN			5	1142	+		Colorectal(252;0.122)	324					B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	37	c.764A>G	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.759645	0.69763	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.68181	-0.31;-0.31;-0.31	5.11	5.11	0.69529	.	0.183161	0.48286	D	0.000184	T	0.58708	0.2141	L	0.28115	0.83	0.47819	D	0.999521	B;B	0.23540	0.087;0.068	B;B	0.32583	0.148;0.145	T	0.58831	-0.7567	10	0.51188	T	0.08	-21.4686	15.0748	0.72069	1.0:0.0:0.0:0.0	.	255;324	B3KNI4;O43174	.;CP26A_HUMAN	R	255;324;255	ENSP00000360586:Q255R;ENSP00000224356:Q324R;ENSP00000377695:Q255R	ENSP00000224356:Q324R	Q	+	2	0	CYP26A1	94825679	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.578000	0.67450	2.151000	0.67156	0.533000	0.62120	CAG		0.512	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3			21	18	0	0	0	0.010504	0	21	18				
EFCAB5	374786	broad.mit.edu	37	17	28296203	28296203	+	Silent	SNP	G	G	A	rs143784264	byFrequency	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:28296203G>A	ENST00000394835.3	+	4	777	c.585G>A	c.(583-585)aaG>aaA	p.K195K	EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000320856.5_Silent_p.K195K|EFCAB5_ENST00000394832.2_Silent_p.K195K|EFCAB5_ENST00000536908.2_Silent_p.K139K|EFCAB5_ENST00000378738.3_Silent_p.K195K|EFCAB5_ENST00000534836.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	195							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AAGTAGAAAAGAAGAAGGTTT	0.343																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(583-585)aaG>aaA		EF-hand calcium binding domain 5							46.0	48.0	47.0					17																	28296203		1822	4086	5908	SO:0001819	synonymous_variant	374786						calcium ion binding	g.chr17:28296203G>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.585G>A	17.37:g.28296203G>A						EFCAB5_ENST00000320856.5_Silent_p.K195K|EFCAB5_ENST00000378738.3_Silent_p.K195K|EFCAB5_ENST00000534836.2_Intron|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000394832.2_Silent_p.K195K|EFCAB5_ENST00000536908.2_Silent_p.K139K	p.K195K	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			4	777	+			195					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Silent	SNP	ENST00000394835.3	37	c.585G>A	CCDS11254.2																																																																																				0.343	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		7	27	0	0	0	0.001984	0	7	27				
ACIN1	22985	broad.mit.edu	37	14	23548865	23548865	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:23548865C>T	ENST00000262710.1	-	6	2180	c.1853G>A	c.(1852-1854)cGt>cAt	p.R618H	ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000457657.1_Missense_Mutation_p.R578H|ACIN1_ENST00000605057.1_Missense_Mutation_p.R560H|ACIN1_ENST00000555053.1_Missense_Mutation_p.R618H	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	618	Ser-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGCATGAGTACGTGCCTGGGC	0.522																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1852-1854)cGt>cAt		apoptotic chromatin condensation inducer 1							256.0	213.0	228.0					14																	23548865		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23548865C>T	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1853G>A	14.37:g.23548865C>T	ENSP00000262710:p.Arg618His					ACIN1_ENST00000605057.1_Missense_Mutation_p.R560H|ACIN1_ENST00000555053.1_Missense_Mutation_p.R618H|ACIN1_ENST00000457657.1_Missense_Mutation_p.R578H	p.R618H	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	6	2180	-	all_cancers(95;1.36e-05)		618			Ser-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.1853G>A	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559241	0.27827	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.29655	2.16;1.56;2.16	5.48	1.04	0.20106	.	0.585786	0.14354	N	0.324890	T	0.19406	0.0466	L	0.27053	0.805	0.09310	N	1	B;B;B	0.18968	0.017;0.01;0.032	B;B;B	0.12156	0.007;0.003;0.004	T	0.17806	-1.0357	10	0.56958	D	0.05	12.858	7.0596	0.25119	0.0:0.5273:0.0:0.4727	.	618;618;578	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	H	618;578;618	ENSP00000262710:R618H;ENSP00000405677:R578H;ENSP00000451328:R618H	ENSP00000262710:R618H	R	-	2	0	ACIN1	22618705	0.004000	0.15560	0.000000	0.03702	0.958000	0.62258	-0.506000	0.06359	-0.113000	0.11958	0.563000	0.77884	CGT		0.522	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		25	107	0	0	0	0.005443	0	25	107				
GPR142	350383	broad.mit.edu	37	17	72367969	72367969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:72367969C>T	ENST00000335666.4	+	4	667	c.619C>T	c.(619-621)Cag>Tag	p.Q207*		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	207						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						TATCATCATCCAGGTGGTCAT	0.657																																						ENST00000335666.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(619-621)Cag>Tag		G protein-coupled receptor 142							81.0	66.0	71.0					17																	72367969		2203	4300	6503	SO:0001587	stop_gained	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72367969C>T	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.619C>T	17.37:g.72367969C>T	ENSP00000335158:p.Gln207*						p.Q207*	NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN			4	667	+			207					A4CYJ8|Q86SL3	Nonsense_Mutation	SNP	ENST00000335666.4	37	c.619C>T	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582545	0.86748	.	.	ENSG00000257008	ENST00000335666	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-26.0809	18.0056	0.89208	0.0:1.0:0.0:0.0	.	.	.	.	X	207	.	ENSP00000335158:Q207X	Q	+	1	0	GPR142	69879564	1.000000	0.71417	0.999000	0.59377	0.886000	0.51366	7.396000	0.79891	2.708000	0.92522	0.650000	0.86243	CAG		0.657	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		10	11	0	0	0	0.006214	0	10	11				
HTR1A	3350	broad.mit.edu	37	5	63256935	63256935	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:63256935G>T	ENST00000323865.3	-	1	845	c.612C>A	c.(610-612)ttC>ttA	p.F204L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	204					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCGGGATGTAGAAAGCTCCAA	0.582																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(610-612)ttC>ttA		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						112.0	125.0	121.0					5																	63256935		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256935G>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.612C>A	5.37:g.63256935G>T	ENSP00000316244:p.Phe204Leu					RP11-158J3.2_ENST00000502882.1_RNA	p.F204L	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	845	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	204					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.612C>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991957	0.74703	.	.	ENSG00000178394	ENST00000323865	T	0.76578	-1.03	5.7	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.91717	0.7381	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93995	0.7270	10	0.87932	D	0	.	13.737	0.62824	0.0736:0.0:0.9264:0.0	.	204	P08908	5HT1A_HUMAN	L	204	ENSP00000316244:F204L	ENSP00000316244:F204L	F	-	3	2	HTR1A	63292691	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.459000	0.66685	1.422000	0.47177	0.655000	0.94253	TTC		0.582	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		27	66	1	0	7.76418e-22	0.005443	9.32269e-22	27	66				
EPPK1	83481	broad.mit.edu	37	8	144946383	144946383	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:144946383G>A	ENST00000525985.1	-	2	1110	c.1039C>T	c.(1039-1041)Ctg>Ttg	p.L347L				P58107	EPIPL_HUMAN	epiplakin 1	347						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCTGACCAGGCCCGCCCTG	0.682																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1039-1041)Ctg>Ttg		epiplakin 1							15.0	19.0	18.0					8																	144946383		1940	4110	6050	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144946383G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.1039C>T	8.37:g.144946383G>A							p.L347L			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	1110	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		347					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.1039C>T																																																																																					0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		24	15	0	0	0	0.003330	0	24	15				
PPFIA1	8500	broad.mit.edu	37	11	70176374	70176374	+	Silent	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:70176374C>G	ENST00000253925.7	+	8	1241	c.1026C>G	c.(1024-1026)ctC>ctG	p.L342L	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.L342L	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	342					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGCATGACCTCAATGATAAAC	0.383																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(1024-1026)ctC>ctG		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							97.0	89.0	92.0					11																	70176374		2200	4294	6494	SO:0001819	synonymous_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70176374C>G	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1026C>G	11.37:g.70176374C>G						PPFIA1_ENST00000389547.3_Silent_p.L342L|AP000487.6_ENST00000528607.1_RNA	p.L342L	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		8	1241	+			342					A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	c.1026C>G	CCDS31627.1																																																																																				0.383	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		12	296	0	0	0	0.001368	0	12	296				
UTP20	27340	broad.mit.edu	37	12	101685601	101685601	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:101685601A>G	ENST00000261637.4	+	9	1147	c.973A>G	c.(973-975)Aca>Gca	p.T325A		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	325					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTTGTTGGAAACATACCTTAT	0.383																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(973-975)Aca>Gca		UTP20, small subunit (SSU) processome component, homolog (yeast)							64.0	63.0	63.0					12																	101685601		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101685601A>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.973A>G	12.37:g.101685601A>G	ENSP00000261637:p.Thr325Ala						p.T325A	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			9	1147	+			325					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.973A>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	A	2.986	-0.209234	0.06140	.	.	ENSG00000120800	ENST00000261637	T	0.64618	-0.11	5.91	3.6	0.41247	Armadillo-type fold (1);	0.479919	0.25032	N	0.033675	T	0.36082	0.0954	N	0.11560	0.145	0.24168	N	0.99564	B	0.02656	0.0	B	0.01281	0.0	T	0.12604	-1.0541	10	0.21014	T	0.42	-0.577	5.7207	0.17985	0.6543:0.0:0.3457:0.0	.	325	O75691	UTP20_HUMAN	A	325	ENSP00000261637:T325A	ENSP00000261637:T325A	T	+	1	0	UTP20	100209732	0.818000	0.29161	0.763000	0.31416	0.142000	0.21351	2.288000	0.43514	1.066000	0.40716	-0.250000	0.11733	ACA		0.383	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		7	20	0	0	0	0.001984	0	7	20				
BRD4	23476	broad.mit.edu	37	19	15349769	15349769	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:15349769G>A	ENST00000263377.2	-	19	4026	c.3805C>T	c.(3805-3807)Ctg>Ttg	p.L1269L	AC004257.3_ENST00000602793.1_lincRNA	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1269	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCCTGCTCCAGCGCATCCTCG	0.701			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(3805-3807)Ctg>Ttg		bromodomain containing 4							9.0	11.0	10.0					19																	15349769		2184	4274	6458	SO:0001819	synonymous_variant	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15349769G>A	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3805C>T	19.37:g.15349769G>A							p.L1269L	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		19	4026	-			1269					O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	c.3805C>T	CCDS12328.1																																																																																				0.701	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		3	7	0	0	0	0.000602	0	3	7				
ASPH	444	broad.mit.edu	37	8	62555450	62555450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:62555450G>A	ENST00000379454.4	-	10	974	c.787C>T	c.(787-789)Caa>Taa	p.Q263*	ASPH_ENST00000517903.1_Nonsense_Mutation_p.Q249*|ASPH_ENST00000518068.1_Nonsense_Mutation_p.Q220*|ASPH_ENST00000541428.1_Nonsense_Mutation_p.Q234*|ASPH_ENST00000522919.1_Nonsense_Mutation_p.Q76*|ASPH_ENST00000517847.2_Nonsense_Mutation_p.Q249*|ASPH_ENST00000522835.1_Nonsense_Mutation_p.Q206*|ASPH_ENST00000445642.3_Nonsense_Mutation_p.Q249*|ASPH_ENST00000356457.5_Nonsense_Mutation_p.Q263*|ASPH_ENST00000523897.1_5'UTR	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	263	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGCAAACCTTGTTCCTCATAG	0.328																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(700-702)Caa>Taa		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						26.0	28.0	27.0					8																	62555450		2190	4296	6486	SO:0001587	stop_gained	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62555450G>A	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.787C>T	8.37:g.62555450G>A	ENSP00000368767:p.Gln263*					ASPH_ENST00000379454.4_Nonsense_Mutation_p.Q263*|ASPH_ENST00000522835.1_Nonsense_Mutation_p.Q206*|ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000445642.3_Nonsense_Mutation_p.Q249*|ASPH_ENST00000517847.2_Nonsense_Mutation_p.Q249*|ASPH_ENST00000517903.1_Nonsense_Mutation_p.Q249*|ASPH_ENST00000522919.1_Nonsense_Mutation_p.Q76*|ASPH_ENST00000356457.5_Nonsense_Mutation_p.Q263*|ASPH_ENST00000518068.1_Nonsense_Mutation_p.Q220*	p.Q234*	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			10	860	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	263			Glu-rich.		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Nonsense_Mutation	SNP	ENST00000379454.4	37	c.700C>T	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	G	36	5.740339	0.96873	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000522919;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835;ENST00000518306	.	.	.	5.08	2.26	0.28386	.	1.642950	0.03038	N	0.152963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	6.1046	0.20067	0.0884:0.0:0.5789:0.3327	.	.	.	.	X	244;234;263;76;263;278;220;249;249;249;206;172	.	ENSP00000348841:Q263X	Q	-	1	0	ASPH	62718004	0.993000	0.37304	0.828000	0.32881	0.769000	0.43574	1.044000	0.30329	0.239000	0.21243	0.563000	0.77884	CAA		0.328	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		7	6	0	0	0	0.003080	0	7	6				
NPAP1	23742	broad.mit.edu	37	15	24923896	24923896	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:24923896C>T	ENST00000329468.2	+	1	3356	c.2882C>T	c.(2881-2883)gCt>gTt	p.A961V		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	961					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CCTGTTAATGCTGAGCCAGTC	0.488																																						ENST00000329468.2																			0											c.(2881-2883)gCt>gTt		nuclear pore associated protein 1							73.0	74.0	73.0					15																	24923896		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24923896C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2882C>T	15.37:g.24923896C>T	ENSP00000333735:p.Ala961Val						p.A961V	NM_018958.2	NP_061831.2					1	3356	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.2882C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	0.877	-0.729946	0.03135	.	.	ENSG00000185823	ENST00000329468	T	0.07021	3.23	1.63	-1.95	0.07548	.	3.511740	0.00995	N	0.003594	T	0.04452	0.0122	N	0.22421	0.69	0.09310	N	1	B	0.26975	0.165	B	0.17722	0.019	T	0.23726	-1.0180	10	0.09843	T	0.71	.	0.6217	0.00779	0.2434:0.3407:0.2403:0.1756	.	961	Q9NZP6	CO002_HUMAN	V	961	ENSP00000333735:A961V	ENSP00000333735:A961V	A	+	2	0	C15orf2	22474989	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.951000	0.03885	-0.594000	0.05836	-0.802000	0.03209	GCT		0.488	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		3	63	0	0	0	0.004672	0	3	63				
GLI1	2735	broad.mit.edu	37	12	57858517	57858517	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:57858517C>G	ENST00000228682.2	+	4	346	c.255C>G	c.(253-255)atC>atG	p.I85M	GLI1_ENST00000543426.1_5'UTR|GLI1_ENST00000546141.1_Missense_Mutation_p.I44M	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	85					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CACTGTCCATCTCACCTCTGT	0.587																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(253-255)atC>atG		GLI family zinc finger 1							117.0	90.0	99.0					12																	57858517		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57858517C>G		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.255C>G	12.37:g.57858517C>G	ENSP00000228682:p.Ile85Met					GLI1_ENST00000543426.1_5'UTR|GLI1_ENST00000546141.1_Missense_Mutation_p.I44M	p.I85M	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		4	346	+			85					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.255C>G	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	c	15.61	2.883059	0.51908	.	.	ENSG00000111087	ENST00000228682;ENST00000546141;ENST00000544736;ENST00000528432;ENST00000528467	T;T;T	0.17370	2.28;2.35;2.35	3.77	0.865	0.19074	.	0.000000	0.47455	D	0.000225	T	0.32224	0.0822	L	0.49571	1.57	0.80722	D	1	D	0.64830	0.994	D	0.73380	0.98	T	0.02345	-1.1173	10	0.87932	D	0	.	12.5772	0.56369	0.0:0.872:0.0:0.128	.	85	P08151	GLI1_HUMAN	M	85;44;39;85;44	ENSP00000228682:I85M;ENSP00000441006:I44M;ENSP00000434408:I44M	ENSP00000228682:I85M	I	+	3	3	GLI1	56144784	1.000000	0.71417	0.999000	0.59377	0.856000	0.48823	1.134000	0.31442	0.059000	0.16252	-1.186000	0.01703	ATC		0.587	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		12	33	0	0	0	0.001855	0	12	33				
ALCAM	214	broad.mit.edu	37	3	105258904	105258904	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:105258904G>A	ENST00000306107.5	+	7	1316	c.816G>A	c.(814-816)ggG>ggA	p.G272G	ALCAM_ENST00000486979.2_Silent_p.G221G|ALCAM_ENST00000472644.2_Silent_p.G272G|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	272	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AATGCTTAGGGAATGGCAACC	0.398																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(814-816)ggG>ggA		activated leukocyte cell adhesion molecule							148.0	139.0	142.0					3																	105258904		2203	4300	6503	SO:0001819	synonymous_variant	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105258904G>A	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.816G>A	3.37:g.105258904G>A						ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000472644.2_Silent_p.G272G|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Silent_p.G221G	p.G272G	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			7	1316	+			272			Ig-like C2-type 1.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Silent	SNP	ENST00000306107.5	37	c.816G>A	CCDS33810.1																																																																																				0.398	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		21	107	0	0	0	0.003954	0	21	107				
EHBP1L1	254102	broad.mit.edu	37	11	65350494	65350494	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:65350494C>T	ENST00000309295.4	+	9	2616	c.2351C>T	c.(2350-2352)tCa>tTa	p.S784L		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	784	Glu-rich.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCTAGGGATTCAGGGGTCCCA	0.542																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(2350-2352)tCa>tTa		EH domain binding protein 1-like 1							36.0	36.0	36.0					11																	65350494		1872	4103	5975	SO:0001583	missense	254102							g.chr11:65350494C>T	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.2351C>T	11.37:g.65350494C>T	ENSP00000312671:p.Ser784Leu						p.S784L	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			9	2616	+			784			Glu-rich.		Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.2351C>T	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	C	8.292	0.817985	0.16607	.	.	ENSG00000173442	ENST00000309295	T	0.71934	-0.61	4.5	1.27	0.21489	.	.	.	.	.	T	0.55289	0.1911	L	0.32530	0.975	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.49781	-0.8903	9	0.72032	D	0.01	.	4.328	0.11050	0.1564:0.5991:0.1524:0.0921	.	784	Q8N3D4	EH1L1_HUMAN	L	784	ENSP00000312671:S784L	ENSP00000312671:S784L	S	+	2	0	EHBP1L1	65107070	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.302000	0.02746	0.316000	0.23135	0.655000	0.94253	TCA		0.542	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		8	27	0	0	0	0.003080	0	8	27				
DNM3	26052	broad.mit.edu	37	1	172376929	172376929	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:172376929C>A	ENST00000355305.5	+	21	2715	c.2558C>A	c.(2557-2559)tCa>tAa	p.S853*	DNM3_ENST00000358155.4_Nonsense_Mutation_p.S847*|PIGC_ENST00000484368.1_Intron|DNM3_ENST00000367731.1_Nonsense_Mutation_p.S843*			Q9UQ16	DYN3_HUMAN	dynamin 3	853					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCACCCCCATCACCAACTCGT	0.433																																						ENST00000358155.4																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(2539-2541)tCa>tAa		dynamin 3							202.0	200.0	201.0					1																	172376929		1863	4102	5965	SO:0001587	stop_gained	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172376929C>A	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.2558C>A	1.37:g.172376929C>A	ENSP00000347457:p.Ser853*					PIGC_ENST00000484368.1_Intron|DNM3_ENST00000367731.1_Nonsense_Mutation_p.S843*|DNM3_ENST00000355305.5_Nonsense_Mutation_p.S853*	p.S847*	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN			21	2716	+			853					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Nonsense_Mutation	SNP	ENST00000355305.5	37	c.2540C>A		.	.	.	.	.	.	.	.	.	.	C	41	8.669162	0.98908	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000355305;ENST00000367731	.	.	.	5.83	5.83	0.93111	.	0.078616	0.52532	D	0.000071	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	16.8531	0.85999	0.0:1.0:0.0:0.0	.	.	.	.	X	857;847;853;843	.	ENSP00000347457:S853X	S	+	2	0	DNM3	170643552	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.845000	0.62853	2.770000	0.95276	0.655000	0.94253	TCA		0.433	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		66	38	1	0	2.42712e-22	0.003610	2.93575e-22	66	38				
COMMD10	51397	broad.mit.edu	37	5	115628170	115628170	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:115628170T>C	ENST00000274458.4	+	7	655	c.593T>C	c.(592-594)cTg>cCg	p.L198P	COMMD10_ENST00000515539.1_Missense_Mutation_p.L184P|COMMD10_ENST00000503424.1_3'UTR	NM_016144.2	NP_057228.1	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	198	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.									endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		CAAGCACAGCTGGATTCCCTT	0.373																																						ENST00000274458.4																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9						c.(592-594)cTg>cCg		COMM domain containing 10							221.0	196.0	204.0					5																	115628170		2202	4300	6502	SO:0001583	missense	51397						protein binding	g.chr5:115628170T>C	AY542165	CCDS34215.1	5q23.1	2008-02-05				ENSG00000145781			30201	protein-coding gene	gene with protein product						15799966	Standard	NM_016144		Approved	PTD002	uc003krt.1	Q9Y6G5		ENST00000274458.4:c.593T>C	5.37:g.115628170T>C	ENSP00000274458:p.Leu198Pro					COMMD10_ENST00000515539.1_Missense_Mutation_p.L184P|COMMD10_ENST00000503424.1_3'UTR	p.L198P	NM_016144.2	NP_057228.1	Q9Y6G5	COMDA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)	7	655	+		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)	198			COMM.		D3DT07|Q9P077	Missense_Mutation	SNP	ENST00000274458.4	37	c.593T>C	CCDS34215.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078625	0.76528	.	.	ENSG00000145781	ENST00000274458;ENST00000515539;ENST00000506589	T;T;T	0.64803	2.48;2.48;-0.12	5.91	5.91	0.95273	COMM domain (1);	0.000000	0.64402	D	0.000011	T	0.80401	0.4616	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.83099	-0.0129	10	0.87932	D	0	-16.3796	16.0521	0.80772	0.0:0.0:0.0:1.0	.	198	Q9Y6G5	COMDA_HUMAN	P	198;184;117	ENSP00000274458:L198P;ENSP00000427319:L184P;ENSP00000424611:L117P	ENSP00000274458:L198P	L	+	2	0	COMMD10	115656069	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.127000	0.71642	2.269000	0.75478	0.456000	0.33151	CTG		0.373	COMMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371033.1	NM_016144		20	33	0	0	0	0.008871	0	20	33				
MGAM	8972	broad.mit.edu	37	7	141767192	141767192	+	Intron	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:141767192C>T	ENST00000549489.2	+	38	4713				MGAM_ENST00000475668.2_Silent_p.G1657G	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCTGCTGGGCCCAGCCTTCC	0.597																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(4969-4971)ggC>ggT		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						56.0	45.0	49.0					7																	141767192		874	1941	2815	SO:0001627	intron_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141767192C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4618+1924C>T	7.37:g.141767192C>T						MGAM_ENST00000549489.2_Intron	p.G1657G			O43451	MGA_HUMAN			42	5025	+	Melanoma(164;0.0272)		1657			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.4971C>T	CCDS47727.1																																																																																				0.597	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			6	31	0	0	0	0.001984	0	6	31				
TMPRSS11E	28983	broad.mit.edu	37	4	69344584	69344584	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:69344584C>T	ENST00000305363.4	+	9	1049	c.985C>T	c.(985-987)Ctt>Ttt	p.L329F		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	329	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TCAAAATCATCTTCGACAAGC	0.343																																						ENST00000305363.4																			0				endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						c.(985-987)Ctt>Ttt		transmembrane protease, serine 11E							134.0	130.0	131.0					4																	69344584		2203	4299	6502	SO:0001583	missense	28983				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69344584C>T	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.985C>T	4.37:g.69344584C>T	ENSP00000307519:p.Leu329Phe						p.L329F	NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN			9	1049	+			329			Peptidase S1.		A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	c.985C>T	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759275	0.49468	.	.	ENSG00000087128	ENST00000305363	D	0.92699	-3.09	5.31	5.31	0.75309	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42821	D	0.000647	D	0.97470	0.9172	H	0.96916	3.905	0.50813	D	0.999894	D	0.89917	1.0	D	0.72625	0.978	D	0.98597	1.0657	10	0.87932	D	0	.	16.83	0.85941	0.0:1.0:0.0:0.0	.	329	Q9UL52	TM11E_HUMAN	F	329	ENSP00000307519:L329F	ENSP00000307519:L329F	L	+	1	0	TMPRSS11E	69027179	1.000000	0.71417	0.965000	0.40720	0.033000	0.12548	6.494000	0.73661	2.640000	0.89533	0.655000	0.94253	CTT		0.343	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		27	93	0	0	0	0.004656	0	27	93				
DAK	26007	broad.mit.edu	37	11	61110820	61110820	+	Missense_Mutation	SNP	G	G	A	rs142716350	byFrequency	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:61110820G>A	ENST00000394900.3	+	11	1101	c.872G>A	c.(871-873)cGc>cAc	p.R291H		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	291	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GCAGAGGGCCGCGGGGTGAAG	0.562													G|||	5	0.000998403	0.0038	0.0	5008	,	,		20200	0.0		0.0	False		,,,				2504	0.0					ENST00000394900.3																			0				NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(871-873)cGc>cAc		dihydroxyacetone kinase 2 homolog (S. cerevisiae)		G	HIS/ARG	10,4396	17.9+/-39.9	0,10,2193	95.0	98.0	97.0		872	3.8	0.8	11	dbSNP_134	97	0,8598		0,0,4299	yes	missense	DAK	NM_015533.3	29	0,10,6492	AA,AG,GG		0.0,0.227,0.0769	benign	291/576	61110820	10,12994	2203	4299	6502	SO:0001583	missense	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61110820G>A		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.872G>A	11.37:g.61110820G>A	ENSP00000378360:p.Arg291His						p.R291H	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN			11	1101	+			291			DhaK.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	c.872G>A	CCDS8003.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	9.969	1.224847	0.22457	0.00227	0.0	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.29917	1.55;1.55	5.64	3.75	0.43078	Dak kinase (2);	0.105372	0.64402	N	0.000005	T	0.27832	0.0685	M	0.62088	1.915	0.49798	D	0.999824	B;B	0.21309	0.054;0.002	B;B	0.23018	0.043;0.005	T	0.05419	-1.0886	10	0.21014	T	0.42	-7.6533	8.0136	0.30368	0.137:0.0:0.7322:0.1308	.	291;291	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	H	291;290	ENSP00000378360:R291H;ENSP00000432539:R290H	ENSP00000378360:R291H	R	+	2	0	DAK	60867396	0.709000	0.27886	0.840000	0.33206	0.226000	0.24999	3.558000	0.53749	0.723000	0.32274	-0.369000	0.07265	CGC		0.562	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		22	61	0	0	0	0.002299	0	22	61				
C15orf39	56905	broad.mit.edu	37	15	75501034	75501034	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:75501034G>A	ENST00000360639.2	+	2	2965	c.2645G>A	c.(2644-2646)cGg>cAg	p.R882Q	C15orf39_ENST00000394987.4_Missense_Mutation_p.R882Q|C15orf39_ENST00000567617.1_Missense_Mutation_p.R882Q|RP11-69H7.3_ENST00000563568.1_RNA			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	882						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						TCGGAGGAGCGGGCACTGCGG	0.672																																						ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(2644-2646)cGg>cAg		chromosome 15 open reading frame 39							24.0	20.0	21.0					15																	75501034		2196	4293	6489	SO:0001583	missense	56905							g.chr15:75501034G>A	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.2645G>A	15.37:g.75501034G>A	ENSP00000353854:p.Arg882Gln					C15orf39_ENST00000567617.1_Missense_Mutation_p.R882Q|C15orf39_ENST00000394987.4_Missense_Mutation_p.R882Q	p.R882Q			Q6ZRI6	CO039_HUMAN			2	2965	+			882					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.2645G>A	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213100	0.79352	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.25250	1.81;1.81	5.44	5.44	0.79542	.	0.058713	0.64402	D	0.000004	T	0.45975	0.1369	M	0.62723	1.935	0.41121	D	0.985819	D;D	0.89917	1.0;0.999	D;D	0.74674	0.984;0.962	T	0.42732	-0.9434	10	0.72032	D	0.01	-27.235	11.3479	0.49571	0.0837:0.0:0.9163:0.0	.	444;882	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	Q	882;882;280	ENSP00000353854:R882Q;ENSP00000378438:R882Q	ENSP00000353854:R882Q	R	+	2	0	C15orf39	73288087	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	2.676000	0.46883	2.556000	0.86216	0.561000	0.74099	CGG		0.672	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		5	9	0	0	0	0.000602	0	5	9				
HIST2H3D	653604	broad.mit.edu	37	1	149785127	149785127	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:149785127T>A	ENST00000331491.1	-	1	109	c.110A>T	c.(109-111)aAg>aTg	p.K37M	HIST2H2BF_ENST00000469483.1_5'Flank|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000369167.1_5'Flank|HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000545683.1_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	37					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GTGCGGCTTCTTCACCCCGCC	0.697																																						ENST00000331491.1																			0				biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						c.(109-111)aAg>aTg		histone cluster 2, H3d							13.0	16.0	15.0					1																	149785127		1202	2979	4181	SO:0001583	missense	653604				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:149785127T>A	AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"""Histones / Replication-dependent"""	25311	protein-coding gene	gene with protein product			"""histone 2, H3d"""				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.110A>T	1.37:g.149785127T>A	ENSP00000333277:p.Lys37Met						p.K37M	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN			1	109	-			37					A2BDF6|A6NFS4|Q6B053	Missense_Mutation	SNP	ENST00000331491.1	37	c.110A>T	CCDS41388.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.451799	0.63290	.	.	ENSG00000183598	ENST00000331491	T	0.56776	0.44	4.1	4.1	0.47936	.	0.000000	0.56097	U	0.000029	T	0.55955	0.1953	.	.	.	0.53688	D	0.999973	.	.	.	.	.	.	T	0.63274	-0.6674	7	0.87932	D	0	.	12.343	0.55105	0.0:0.0:0.0:1.0	.	.	.	.	M	37	ENSP00000333277:K37M	ENSP00000333277:K37M	K	-	2	0	HIST2H3D	148051751	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.531000	0.67148	1.856000	0.53863	0.358000	0.22013	AAG		0.697	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	NM_001123375		5	23	0	0	0	0.001984	0	5	23				
OR5F1	338674	broad.mit.edu	37	11	55761812	55761812	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:55761812C>A	ENST00000278409.1	-	1	289	c.290G>T	c.(289-291)tGc>tTc	p.C97F		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	97					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C97F(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CTGTAGGAAGCAGCCAGCAAA	0.473																																						ENST00000278409.1																			1	Substitution - Missense(1)	p.C97F(1)	lung(1)	endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(289-291)tGc>tTc		olfactory receptor, family 5, subfamily F, member 1							85.0	83.0	83.0					11																	55761812		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761812C>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.290G>T	11.37:g.55761812C>A	ENSP00000278409:p.Cys97Phe						p.C97F	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	289	-	Esophageal squamous(21;0.00448)		97					Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.290G>T	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510570	0.64522	.	.	ENSG00000149133	ENST00000278409	T	0.00547	6.66	3.03	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04770	0.0129	H	0.98701	4.305	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.03840	-1.0999	9	0.87932	D	0	.	12.8922	0.58078	0.0:1.0:0.0:0.0	.	97	O95221	OR5F1_HUMAN	F	97	ENSP00000278409:C97F	ENSP00000278409:C97F	C	-	2	0	OR5F1	55518388	1.000000	0.71417	0.913000	0.36048	0.891000	0.51852	6.929000	0.75852	1.422000	0.47177	0.297000	0.19635	TGC		0.473	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		23	67	1	0	1.42536e-11	0.004656	1.67479e-11	23	67				
CSMD1	64478	broad.mit.edu	37	8	2886928	2886928	+	Missense_Mutation	SNP	G	G	T	rs201724174		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:2886928G>T	ENST00000520002.1	-	52	8326	c.7771C>A	c.(7771-7773)Cct>Act	p.P2591T	CSMD1_ENST00000602557.1_Missense_Mutation_p.P2591T|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2590T|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2591T|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2591T|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2590T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2591	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TAGTAACCAGGACTGCAGCTC	0.532																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(7771-7773)Cct>Act		CUB and Sushi multiple domains 1							74.0	72.0	73.0					8																	2886928		2012	4175	6187	SO:0001583	missense	64478					integral to membrane		g.chr8:2886928G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7771C>A	8.37:g.2886928G>T	ENSP00000430733:p.Pro2591Thr					CSMD1_ENST00000602723.1_Missense_Mutation_p.P2591T|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2590T|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2591T|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2590T|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2591T	p.P2591T			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	52	8326	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2591			Sushi 16.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.7771C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.11|17.11	3.305697|3.305697	0.60305|0.60305	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|T	0.65916|0.64991	-0.18;-0.18;-0.18;-0.18|-0.13	4.88|4.88	4.0|4.0	0.46444|0.46444	Complement control module (2);Sushi/SCR/CCP (3);|.	0.279436|.	0.29737|.	N|.	0.011325|.	T|T	0.68824|0.68824	0.3043|0.3043	L|L	0.54965|0.54965	1.715|1.715	0.80722|0.80722	D|D	1|1	B;P;B|.	0.40000|.	0.17;0.698;0.028|.	B;P;B|.	0.48524|.	0.11;0.58;0.044|.	T|T	0.70791|0.70791	-0.4776|-0.4776	10|7	0.32370|0.51188	T|T	0.25|0.08	.|.	14.7334|14.7334	0.69399|0.69399	0.0:0.0:0.8544:0.1456|0.0:0.0:0.8544:0.1456	.|.	2591;2591;2590|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	T|Y	2591;2591;2452;2590;2590|2007	ENSP00000383047:P2591T;ENSP00000430733:P2591T;ENSP00000441462:P2590T;ENSP00000446243:P2590T|ENSP00000334828:S2007Y	ENSP00000320445:P2452T|ENSP00000334828:S2007Y	P|S	-|-	1|2	0|0	CSMD1|CSMD1	2874335|2874335	1.000000|1.000000	0.71417|0.71417	0.132000|0.132000	0.22025|0.22025	0.951000|0.951000	0.60555|0.60555	8.285000|8.285000	0.89914|0.89914	1.283000|1.283000	0.44513|0.44513	0.591000|0.591000	0.81541|0.81541	CCT|TCC		0.532	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	12	1	0	0.00198382	0.001984	0.00209864	6	12				
IQGAP3	128239	broad.mit.edu	37	1	156504953	156504953	+	Splice_Site	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:156504953G>T	ENST00000361170.2	-	28	3518		c.e28+1		IQGAP3_ENST00000498755.1_5'Flank	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3						activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACAACACTTGCCTTATAGAC	0.507																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.e28+1		IQ motif containing GTPase activating protein 3							195.0	187.0	189.0					1																	156504953		2203	4300	6503	SO:0001630	splice_region_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156504953G>T	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3507+1C>A	1.37:g.156504953G>T								NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			28	3518	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)							Q5T3H8	Splice_Site	SNP	ENST00000361170.2	37		CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059472	0.36373	.	.	ENSG00000183856	ENST00000361170	.	.	.	5.24	0.921	0.19403	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7702	0.23589	0.5799:0.0:0.4201:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IQGAP3	154771577	0.946000	0.32159	0.804000	0.32291	0.169000	0.22640	1.855000	0.39378	0.330000	0.23485	-0.471000	0.05019	.		0.507	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	Intron	27	108	1	0	5.09552e-08	0.010818	5.82092e-08	27	108				
ING3	54556	broad.mit.edu	37	7	120590962	120590962	+	Silent	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:120590962A>G	ENST00000315870.5	+	1	160	c.12A>G	c.(10-12)ctA>ctG	p.L4L	ING3_ENST00000445699.1_Silent_p.L4L|ING3_ENST00000339121.5_Silent_p.L4L|ING3_ENST00000431467.1_5'Flank	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	4					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					TGTTGTACCTAGAAGACTATC	0.632																																						ENST00000315870.5																			0				NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12						c.(10-12)ctA>ctG		inhibitor of growth family, member 3							52.0	59.0	56.0					7																	120590962		2203	4300	6503	SO:0001819	synonymous_variant	54556				histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding	g.chr7:120590962A>G	AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"""Zinc fingers, PHD-type"""	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.12A>G	7.37:g.120590962A>G						ING3_ENST00000445699.1_Silent_p.L4L|ING3_ENST00000339121.5_Silent_p.L4L	p.L4L	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN			1	160	+	all_neural(327;0.117)		4					A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Silent	SNP	ENST00000315870.5	37	c.12A>G	CCDS5778.1																																																																																				0.632	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280453.2	NM_019071		25	74	0	0	0	0.006320	0	25	74				
GCNT2	2651	broad.mit.edu	37	6	10557098	10557098	+	Intron	SNP	G	G	A	rs142308624		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:10557098G>A	ENST00000379597.3	+	1	1481				GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Missense_Mutation_p.A148T|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CTTCCCAAACGCTTTTCTGGC	0.453																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(442-444)Gct>Act		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)		G	THR/ALA,	0,4406		0,0,2203	85.0	85.0	85.0		442,	5.1	0.5	6	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron	GCNT2	NM_001491.2,NM_145649.4	58,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	148/401,	10557098	1,13005	2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10557098G>A	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27029G>A	6.37:g.10557098G>A						GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron	p.A148T	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	859	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	150						Missense_Mutation	SNP	ENST00000379597.3	37	c.442G>A	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.944836	0.53079	0.0	1.16E-4	ENSG00000111846	ENST00000316170	T	0.11712	2.75	5.05	5.05	0.67936	.	.	.	.	.	T	0.07007	0.0178	M	0.62723	1.935	0.80722	D	1	B	0.34147	0.438	B	0.31751	0.135	T	0.03193	-1.1062	9	0.62326	D	0.03	.	11.8564	0.52439	0.0816:0.0:0.9184:0.0	.	148	Q06430	GNT2B_HUMAN	T	148	ENSP00000314844:A148T	ENSP00000314844:A148T	A	+	1	0	GCNT2	10665084	0.999000	0.42202	0.454000	0.27019	0.941000	0.58515	4.664000	0.61540	2.491000	0.84063	0.655000	0.94253	GCT		0.453	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		19	65	0	0	0	0.007413	0	19	65				
PLCB1	23236	broad.mit.edu	37	20	8639216	8639216	+	Missense_Mutation	SNP	G	G	T	rs372097607		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:8639216G>T	ENST00000338037.6	+	9	754	c.727G>T	c.(727-729)Gat>Tat	p.D243Y	PLCB1_ENST00000378641.3_Missense_Mutation_p.D243Y|PLCB1_ENST00000378637.2_Missense_Mutation_p.D243Y	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	243					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCTTACCGTTGATCAGATGAT	0.318																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(727-729)Gat>Tat		phospholipase C, beta 1 (phosphoinositide-specific)							98.0	96.0	97.0					20																	8639216		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8639216G>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.727G>T	20.37:g.8639216G>T	ENSP00000338185:p.Asp243Tyr					PLCB1_ENST00000338037.6_Missense_Mutation_p.D243Y|PLCB1_ENST00000378637.2_Missense_Mutation_p.D243Y	p.D243Y	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			9	1202	+			243					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.727G>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968348	0.92855	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.49139	0.79;0.79;0.79	5.95	5.95	0.96441	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.044665	0.85682	D	0.000000	T	0.68403	0.2997	M	0.64170	1.965	0.58432	D	0.999999	D;D	0.76494	0.993;0.999	D;D	0.70935	0.934;0.971	T	0.68496	-0.5393	10	0.87932	D	0	.	20.3921	0.98947	0.0:0.0:1.0:0.0	.	243;243	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	Y	243;243;243;163;163	ENSP00000367908:D243Y;ENSP00000338185:D243Y;ENSP00000367904:D243Y	ENSP00000338185:D243Y	D	+	1	0	PLCB1	8587216	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	9.751000	0.98889	2.822000	0.97130	0.650000	0.86243	GAT		0.318	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			13	52	1	0	1.49906e-05	0.002450	1.63308e-05	13	52				
BNC1	646	broad.mit.edu	37	15	83926268	83926268	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:83926268G>A	ENST00000345382.2	-	5	2996	c.2911C>T	c.(2911-2913)Cgc>Tgc	p.R971C	BNC1_ENST00000569704.1_Missense_Mutation_p.R964C|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	971					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TTTCGACTGCGAACAGACGAA	0.507																																						ENST00000345382.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(2911-2913)Cgc>Tgc		basonuclin 1							158.0	152.0	154.0					15																	83926268		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83926268G>A	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2911C>T	15.37:g.83926268G>A	ENSP00000307041:p.Arg971Cys					RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R964C	p.R971C	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN			5	2996	-			971					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.2911C>T	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775166	0.90108	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.55234	0.53	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.74928	0.3781	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.988	T	0.75855	-0.3170	10	0.87932	D	0	-34.6311	20.3398	0.98759	0.0:0.0:1.0:0.0	.	964;971	F5GY04;Q01954	.;BNC1_HUMAN	C	971;964	ENSP00000307041:R971C	ENSP00000307041:R971C	R	-	1	0	BNC1	81717272	1.000000	0.71417	0.972000	0.41901	0.994000	0.84299	6.482000	0.73613	2.811000	0.96726	0.557000	0.71058	CGC		0.507	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		59	45	0	0	0	0.003610	0	59	45				
HPDL	84842	broad.mit.edu	37	1	45793381	45793381	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:45793381C>T	ENST00000334815.3	+	1	837	c.561C>T	c.(559-561)tgC>tgT	p.C187C		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	187					aromatic amino acid family metabolic process (GO:0009072)		4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					TGGGCTTTTGCCACTTGCCGC	0.672																																						ENST00000334815.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(559-561)tgC>tgT		4-hydroxyphenylpyruvate dioxygenase-like							27.0	28.0	28.0					1																	45793381		2202	4299	6501	SO:0001819	synonymous_variant	84842				aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr1:45793381C>T	BC007293	CCDS519.1	1p34.1	2008-02-05	2007-03-14	2007-03-14	ENSG00000186603	ENSG00000186603			28242	protein-coding gene	gene with protein product			"""glyoxalase domain containing 1"""	GLOXD1		12477932	Standard	NM_032756		Approved	MGC15668, 4-HPPD-L	uc001cne.3	Q96IR7	OTTHUMG00000007681	ENST00000334815.3:c.561C>T	1.37:g.45793381C>T							p.C187C	NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN			1	837	+	Acute lymphoblastic leukemia(166;0.155)		187					B2R9B0	Silent	SNP	ENST00000334815.3	37	c.561C>T	CCDS519.1																																																																																				0.672	HPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020527.1	NM_032756		3	35	0	0	0	0.004672	0	3	35				
CACHD1	57685	broad.mit.edu	37	1	64936610	64936610	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:64936610G>A	ENST00000371073.2	+	1	183	c.183G>A	c.(181-183)ggG>ggA	p.G61G	CACHD1_ENST00000290039.5_Silent_p.G10G			Q5VU97	CAHD1_HUMAN	cache domain containing 1	61					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGGAGCTGGGGGTCGTCACCA	0.672																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(181-183)ggG>ggA		cache domain containing 1							33.0	47.0	43.0					1																	64936610		2009	4172	6181	SO:0001819	synonymous_variant	57685				calcium ion transport	integral to membrane		g.chr1:64936610G>A	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.183G>A	1.37:g.64936610G>A						CACHD1_ENST00000290039.5_Silent_p.G10G	p.G61G			Q5VU97	CAHD1_HUMAN			1	183	+			61					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	ENST00000371073.2	37	c.183G>A																																																																																					0.672	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		10	10	0	0	0	0.001855	0	10	10				
AHCTF1	25909	broad.mit.edu	37	1	247024567	247024567	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:247024567T>C	ENST00000391829.2	-	29	3889	c.3766A>G	c.(3766-3768)Act>Gct	p.T1256A	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.T1291A|AHCTF1_ENST00000326225.3_Missense_Mutation_p.T1265A			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1256	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTAGGTGTAGTAAATACTTCT	0.363																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(3871-3873)Act>Gct		AT hook containing transcription factor 1							30.0	29.0	30.0					1																	247024567		2203	4298	6501	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247024567T>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3766A>G	1.37:g.247024567T>C	ENSP00000375705:p.Thr1256Ala					AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.T1256A|AHCTF1_ENST00000326225.3_Missense_Mutation_p.T1265A	p.T1291A			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		29	4007	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1256			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.3871A>G		.	.	.	.	.	.	.	.	.	.	t	0.510	-0.866901	0.02590	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.29917	1.55;1.55;1.55	5.35	-0.248	0.13015	.	1.713370	0.02917	N	0.137438	T	0.19208	0.0461	L	0.31926	0.97	0.09310	N	1	B;B;B	0.32753	0.383;0.0;0.0	B;B;B	0.26094	0.066;0.001;0.001	T	0.09729	-1.0661	10	0.15066	T	0.55	-0.4008	3.9577	0.09398	0.3469:0.1835:0.0:0.4696	.	117;1291;1256	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	A	1291;1265;1256	ENSP00000355464:T1291A;ENSP00000355465:T1265A;ENSP00000375705:T1256A	ENSP00000355465:T1265A	T	-	1	0	AHCTF1	245091190	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.135000	0.10420	0.067000	0.16545	-0.323000	0.08544	ACT		0.363	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		9	5	0	0	0	0.008291	0	9	5				
ADIPOR2	79602	broad.mit.edu	37	12	1889776	1889776	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:1889776C>T	ENST00000357103.4	+	5	874	c.623C>T	c.(622-624)tCa>tTa	p.S208L		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	208					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			TACTGCCACTCAGAGGGGGTC	0.458																																						ENST00000357103.4																			0				endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12						c.(622-624)tCa>tTa		adiponectin receptor 2							138.0	142.0	141.0					12																	1889776		2203	4300	6503	SO:0001583	missense	79602				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity	g.chr12:1889776C>T	AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"""GPCR / Unclassified : Adiponectin receptors"""	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.623C>T	12.37:g.1889776C>T	ENSP00000349616:p.Ser208Leu						p.S208L	NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000382)		5	874	+	Ovarian(42;0.107)		208					Q53YY5|Q9H737	Missense_Mutation	SNP	ENST00000357103.4	37	c.623C>T	CCDS8511.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416022	0.96092	.	.	ENSG00000006831	ENST00000357103	T	0.37235	1.21	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.72269	0.3439	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78994	-0.1984	10	0.87932	D	0	-8.332	20.1865	0.98220	0.0:1.0:0.0:0.0	.	208	Q86V24	ADR2_HUMAN	L	208	ENSP00000349616:S208L	ENSP00000349616:S208L	S	+	2	0	ADIPOR2	1760037	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	2.775000	0.95449	0.655000	0.94253	TCA		0.458	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2	NM_024551		28	176	0	0	0	0.012213	0	28	176				
KDM2A	22992	broad.mit.edu	37	11	66888812	66888812	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:66888812C>T	ENST00000529006.2	+	2	471	c.25C>T	c.(25-27)Cgt>Tgt	p.R9C	KDM2A_ENST00000398645.2_Missense_Mutation_p.R9C	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	9					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGAAAGGATTCGTTACAGCCA	0.423																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(25-27)Cgt>Tgt		lysine (K)-specific demethylase 2A							174.0	180.0	178.0					11																	66888812		1872	4106	5978	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:66888812C>T	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.25C>T	11.37:g.66888812C>T	ENSP00000432786:p.Arg9Cys					KDM2A_ENST00000398645.2_Missense_Mutation_p.R9C	p.R9C	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			2	471	+			9					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.25C>T	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	c	21.3	4.123946	0.77436	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.50001	0.76;2.05	4.73	4.73	0.59995	.	.	.	.	.	T	0.52058	0.1711	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	P	0.56563	0.801	T	0.55829	-0.8079	9	0.72032	D	0.01	-12.371	13.2259	0.59914	0.0:1.0:0.0:0.0	.	9	Q9Y2K7	KDM2A_HUMAN	C	9	ENSP00000381640:R9C;ENSP00000432786:R9C	ENSP00000381640:R9C	R	+	1	0	KDM2A	66645388	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.207000	0.58480	2.182000	0.69389	0.655000	0.94253	CGT		0.423	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		8	23	0	0	0	0.004482	0	8	23				
C17orf97	400566	broad.mit.edu	37	17	263646	263646	+	Missense_Mutation	SNP	G	G	A	rs200126663		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:263646G>A	ENST00000360127.6	+	2	1028	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	368	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CTTCCACCCCGACCCCGAGGC	0.692																																						ENST00000360127.6																			0				breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(1012-1014)Gac>Aac		chromosome 17 open reading frame 97							11.0	17.0	15.0					17																	263646		1751	3734	5485	SO:0001583	missense	400566							g.chr17:263646G>A	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.1012G>A	17.37:g.263646G>A	ENSP00000353245:p.Asp338Asn					C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	p.D338N	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	1028	+			368			20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.		A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	c.1012G>A	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	G	6.713	0.500254	0.12762	.	.	ENSG00000187624	ENST00000360127	T	0.32272	1.46	2.05	-4.1	0.03940	.	.	.	.	.	T	0.08935	0.0221	N	0.14661	0.345	0.09310	N	1	P	0.49635	0.926	B	0.24155	0.051	T	0.21109	-1.0255	9	0.48119	T	0.1	.	1.8712	0.03209	0.1452:0.1908:0.4708:0.1932	.	338	Q6ZQX7-4	.	N	338	ENSP00000353245:D338N	ENSP00000353245:D338N	D	+	1	0	C17orf97	263992	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.090000	0.11163	-1.295000	0.02357	0.205000	0.17691	GAC		0.692	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		4	40	0	0	0	0.001984	0	4	40				
CEP85L	387119	broad.mit.edu	37	6	118887420	118887420	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:118887420G>A	ENST00000368491.3	-	3	913	c.292C>T	c.(292-294)Cct>Tct	p.P98S	CEP85L_ENST00000392500.3_Missense_Mutation_p.P101S|CEP85L_ENST00000419517.2_Missense_Mutation_p.P98S|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000368488.5_Missense_Mutation_p.P101S|CEP85L_ENST00000360290.3_5'UTR	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	98						centrosome (GO:0005813)|cytoplasm (GO:0005737)											TGGGCAGTAGGAAGAGTAATC	0.388																																						ENST00000368491.3																			0											c.(292-294)Cct>Tct		centrosomal protein 85kDa-like							44.0	44.0	44.0					6																	118887420		2203	4299	6502	SO:0001583	missense	387119					centrosome		g.chr6:118887420G>A	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.292C>T	6.37:g.118887420G>A	ENSP00000357477:p.Pro98Ser					CEP85L_ENST00000419517.2_Missense_Mutation_p.P98S|CEP85L_ENST00000368488.5_Missense_Mutation_p.P101S|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000392500.3_Missense_Mutation_p.P101S|CEP85L_ENST00000360290.3_5'UTR	p.P98S	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			3	913	-			98					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.292C>T	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108175	0.77096	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000419517	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	5.96	5.96	0.96718	.	0.133532	0.49305	D	0.000160	T	0.31482	0.0798	L	0.46819	1.47	0.42447	D	0.992731	D;D;D;D	0.65815	0.995;0.976;0.976;0.976	P;P;P;P	0.60173	0.87;0.797;0.797;0.797	T	0.01071	-1.1461	10	0.52906	T	0.07	-14.3613	15.1722	0.72884	0.0:0.0:0.8591:0.1409	.	101;98;101;98	Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;CF204_HUMAN	S	98;101;101;101;98	ENSP00000357477:P98S;ENSP00000357474:P101S;ENSP00000392131:P101S;ENSP00000376288:P101S;ENSP00000393317:P98S	ENSP00000357474:P101S	P	-	1	0	C6orf204	118994113	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.245000	0.72398	2.832000	0.97577	0.655000	0.94253	CCT		0.388	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		3	26	0	0	0	0.004672	0	3	26				
KALRN	8997	broad.mit.edu	37	3	124413262	124413262	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:124413262C>T	ENST00000291478.5	+	20	2561	c.2398C>T	c.(2398-2400)Cgg>Tgg	p.R800W	AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000428018.2_Missense_Mutation_p.R768W|KALRN_ENST00000360013.3_Missense_Mutation_p.R2497W	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2496					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGTCTGTGGGCGGCCAAAGCC	0.527																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(7489-7491)Cgg>Tgg		kalirin, RhoGEF kinase							156.0	138.0	144.0					3																	124413262		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124413262C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2398C>T	3.37:g.124413262C>T	ENSP00000291478:p.Arg800Trp					KALRN_ENST00000428018.2_Missense_Mutation_p.R768W|KALRN_ENST00000291478.4_Missense_Mutation_p.R800W	p.R2497W	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			53	7616	+			2496			Ig-like C2-type.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.7489C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084651	0.76642	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	T;T;T	0.67698	-0.28;-0.28;-0.28	6.07	5.13	0.70059	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.257437	0.32578	N	0.005908	T	0.75391	0.3843	L	0.52126	1.63	0.29315	N	0.867781	D;D	0.76494	0.999;0.997	D;P	0.68353	0.957;0.877	T	0.69446	-0.5143	10	0.38643	T	0.18	.	14.3202	0.66482	0.2087:0.7913:0.0:0.0	.	800;2496	C9JQ37;O60229	.;KALRN_HUMAN	W	2497;800;768	ENSP00000353109:R2497W;ENSP00000291478:R800W;ENSP00000402419:R768W	ENSP00000291478:R800W	R	+	1	2	KALRN	125895952	0.906000	0.30813	1.000000	0.80357	0.994000	0.84299	1.312000	0.33574	2.885000	0.99019	0.655000	0.94253	CGG		0.527	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		42	58	0	0	0	0.007835	0	42	58				
DMBT1	1755	broad.mit.edu	37	10	124336113	124336113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:124336113C>A	ENST00000338354.3	+	7	588	c.482C>A	c.(481-483)tCa>tAa	p.S161*	DMBT1_ENST00000330163.4_Nonsense_Mutation_p.S161*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.S161*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.S161*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.S161*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.S161*|DMBT1_ENST00000359586.6_Nonsense_Mutation_p.S161*			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	161	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGCCAGGGCTCAGGACCCATT	0.592																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(481-483)tCa>tAa		deleted in malignant brain tumors 1							150.0	151.0	151.0					10																	124336113		2085	4245	6330	SO:0001587	stop_gained	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124336113C>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.482C>A	10.37:g.124336113C>A	ENSP00000342210:p.Ser161*					DMBT1_ENST00000368956.2_Nonsense_Mutation_p.S161*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.S161*|DMBT1_ENST00000338354.3_Nonsense_Mutation_p.S161*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.S161*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.S161*|DMBT1_ENST00000359586.6_Nonsense_Mutation_p.S161*	p.S161*	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			7	588	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	161			SRCR 1.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Nonsense_Mutation	SNP	ENST00000338354.3	37	c.482C>A		.	.	.	.	.	.	.	.	.	.	c	23.4	4.411874	0.83340	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	.	.	.	4.63	0.23	0.15372	.	0.765819	0.10142	U	0.710765	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.5164	0.16908	0.2098:0.5307:0.1873:0.0722	.	.	.	.	X	161	.	ENSP00000331522:S161X	S	+	2	0	DMBT1	124326103	0.000000	0.05858	0.037000	0.18230	0.078000	0.17371	-0.245000	0.08890	0.463000	0.27118	0.655000	0.94253	TCA		0.592	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		35	92	1	0	1.99505e-19	0.012213	2.37816e-19	35	92				
ZC3H13	23091	broad.mit.edu	37	13	46563012	46563012	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:46563012G>C	ENST00000242848.4	-	9	1513	c.1165C>G	c.(1165-1167)Cca>Gca	p.P389A	ZC3H13_ENST00000282007.3_Missense_Mutation_p.P389A			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	389	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CGATGTCTTGGAGGACTCTGC	0.493																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(1165-1167)Cca>Gca		zinc finger CCCH-type containing 13							144.0	126.0	132.0					13																	46563012		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46563012G>C	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1165C>G	13.37:g.46563012G>C	ENSP00000242848:p.Pro389Ala					ZC3H13_ENST00000282007.3_Missense_Mutation_p.P389A	p.P389A			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	9	1513	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	389			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1165C>G		.	.	.	.	.	.	.	.	.	.	G	12.93	2.086851	0.36855	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.28895	2.61;1.59	5.81	4.85	0.62838	.	0.215376	0.33144	N	0.005221	T	0.15869	0.0382	N	0.19112	0.55	0.80722	D	1	B;B	0.22146	0.039;0.065	B;B	0.21708	0.016;0.036	T	0.17561	-1.0365	10	0.22109	T	0.4	.	3.8283	0.08864	0.3265:0.0:0.6735:0.0	.	389;389	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	A	389;389;205	ENSP00000242848:P389A;ENSP00000282007:P389A	ENSP00000242848:P389A	P	-	1	0	ZC3H13	45461013	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.608000	0.46308	2.738000	0.93877	0.655000	0.94253	CCA		0.493	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		7	23	0	0	0	0.001984	0	7	23				
SYNE2	23224	broad.mit.edu	37	14	64595183	64595183	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:64595183G>A	ENST00000344113.4	+	74	14143	c.13931G>A	c.(13930-13932)aGa>aAa	p.R4644K	SYNE2_ENST00000357395.3_Missense_Mutation_p.R1029K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.R1278K|SYNE2_ENST00000394768.2_Missense_Mutation_p.R1029K|SYNE2_ENST00000358025.3_Missense_Mutation_p.R4644K|SYNE2_ENST00000554584.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4644					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAATAAAGAGATTATATCAT	0.318																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(3085-3087)aGa>aAa		spectrin repeat containing, nuclear envelope 2							79.0	79.0	79.0					14																	64595183		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64595183G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.13931G>A	14.37:g.64595183G>A	ENSP00000341781:p.Arg4644Lys					SYNE2_ENST00000344113.4_Missense_Mutation_p.R4644K|SYNE2_ENST00000394768.2_Missense_Mutation_p.R1029K|SYNE2_ENST00000555002.1_Missense_Mutation_p.R1278K|SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.R4644K	p.R1029K			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	75	14230	+			4644					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.3086G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	4.556	0.103176	0.08731	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	5.44	2.12	0.27331	.	0.328084	0.22093	N	0.064737	T	0.14399	0.0348	L	0.29908	0.895	0.80722	D	1	B;B;B	0.29552	0.05;0.129;0.248	B;B;B	0.28991	0.037;0.029;0.097	T	0.10660	-1.0620	10	0.05351	T	0.99	.	3.5373	0.07798	0.2752:0.0:0.4615:0.2633	.	1029;4644;4644	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	K	4644;1029;4644;1278;1029	ENSP00000350719:R4644K;ENSP00000349969:R1029K;ENSP00000341781:R4644K;ENSP00000450831:R1278K;ENSP00000378249:R1029K	ENSP00000341781:R4644K	R	+	2	0	SYNE2	63664936	0.196000	0.23350	1.000000	0.80357	0.975000	0.68041	1.128000	0.31369	1.252000	0.44001	0.561000	0.74099	AGA		0.318	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	47	0	0	0	0.003080	0	7	47				
IL16	3603	broad.mit.edu	37	15	81575048	81575048	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:81575048G>A	ENST00000302987.4	+	8	1150	c.1150G>A	c.(1150-1152)Gtc>Atc	p.V384I	IL16_ENST00000394660.2_Missense_Mutation_p.V384I			Q14005	IL16_HUMAN	interleukin 16	384	Interaction with GRIN2A.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V384I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGGCATTTTCGTCCACACGCT	0.597																																						ENST00000394660.2																			1	Substitution - Missense(1)	p.V384I(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(1150-1152)Gtc>Atc		interleukin 16							171.0	180.0	177.0					15																	81575048		2148	4250	6398	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81575048G>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1150G>A	15.37:g.81575048G>A	ENSP00000302935:p.Val384Ile					IL16_ENST00000302987.4_Missense_Mutation_p.V384I	p.V384I	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			9	1510	+			384			Interaction with GRIN2A.|PDZ 2.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.1150G>A	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	1.405	-0.576966	0.03854	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000355368;ENST00000302987	T;T	0.18960	2.18;2.18	5.46	2.13	0.27403	PDZ/DHR/GLGF (3);	0.372399	0.19498	N	0.112817	T	0.05181	0.0138	N	0.01482	-0.84	0.80722	D	1	B;B	0.16396	0.01;0.017	B;B	0.10450	0.002;0.005	T	0.33394	-0.9870	10	0.02654	T	1	.	5.5128	0.16890	0.5631:0.0:0.4369:0.0	.	384;384	Q14005;Q14005-2	IL16_HUMAN;.	I	384;384;216;384	ENSP00000378155:V384I;ENSP00000302935:V384I	ENSP00000302935:V384I	V	+	1	0	IL16	79362103	1.000000	0.71417	0.042000	0.18584	0.412000	0.31113	2.464000	0.45067	0.652000	0.30806	0.591000	0.81541	GTC		0.597	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		34	123	0	0	0	0.004289	0	34	123				
STXBP6	29091	broad.mit.edu	37	14	25288333	25288333	+	Missense_Mutation	SNP	C	C	G	rs375183430		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:25288333C>G	ENST00000323944.5	-	5	970	c.519G>C	c.(517-519)ttG>ttC	p.L173F	STXBP6_ENST00000546511.1_Missense_Mutation_p.L173F|STXBP6_ENST00000419632.2_Missense_Mutation_p.L173F|STXBP6_ENST00000548724.1_Missense_Mutation_p.L173F|STXBP6_ENST00000550887.1_Missense_Mutation_p.L173F|STXBP6_ENST00000358326.2_Missense_Mutation_p.L173F|STXBP6_ENST00000548369.1_Missense_Mutation_p.L71F|STXBP6_ENST00000396700.1_Missense_Mutation_p.L173F			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	173	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		CACGCTCATTCAAGGCCTGGC	0.562																																						ENST00000323944.5																			0				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7						c.(517-519)ttG>ttC		syntaxin binding protein 6 (amisyn)		C	PHE/LEU	0,4406		0,0,2203	176.0	149.0	158.0		519	3.2	1.0	14		158	1,8599	1.2+/-3.3	0,1,4299	no	missense	STXBP6	NM_014178.6	22	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	173/211	25288333	1,13005	2203	4300	6503	SO:0001583	missense	29091				vesicle-mediated transport	cytoplasm|integral to membrane		g.chr14:25288333C>G	AF161505	CCDS9634.1	14q11.2	2002-12-18			ENSG00000168952	ENSG00000168952			19666	protein-coding gene	gene with protein product		607958				12145319	Standard	NM_014178		Approved	amisyn, HSPC156	uc001wpu.3	Q8NFX7	OTTHUMG00000140186	ENST00000323944.5:c.519G>C	14.37:g.25288333C>G	ENSP00000324302:p.Leu173Phe					STXBP6_ENST00000419632.2_Missense_Mutation_p.L173F|STXBP6_ENST00000548724.1_Missense_Mutation_p.L173F|STXBP6_ENST00000550887.1_Missense_Mutation_p.L173F|STXBP6_ENST00000546511.1_Missense_Mutation_p.L173F|STXBP6_ENST00000548369.1_Missense_Mutation_p.L71F|STXBP6_ENST00000396700.1_Missense_Mutation_p.L173F|STXBP6_ENST00000358326.2_Missense_Mutation_p.L173F	p.L173F			Q8NFX7	STXB6_HUMAN		GBM - Glioblastoma multiforme(265;0.0296)	5	970	-			173			v-SNARE coiled-coil homology.		D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Missense_Mutation	SNP	ENST00000323944.5	37	c.519G>C	CCDS9634.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535425	0.64972	0.0	1.16E-4	ENSG00000168952	ENST00000396700;ENST00000548724;ENST00000323944;ENST00000419632;ENST00000546511;ENST00000550887;ENST00000548369;ENST00000358326	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.35	3.18	0.36537	Synaptobrevin (2);	0.000000	0.64402	D	0.000001	T	0.64046	0.2563	M	0.76574	2.34	0.44380	D	0.997288	D;D	0.89917	1.0;1.0	D;D	0.85130	0.979;0.997	T	0.65393	-0.6179	10	0.72032	D	0.01	-11.2044	8.3232	0.32140	0.0:0.7517:0.1529:0.0955	.	173;71	Q8NFX7;Q8NFX7-3	STXB6_HUMAN;.	F	173;173;173;173;173;173;71;173	ENSP00000379928:L173F;ENSP00000447383:L173F;ENSP00000324302:L173F;ENSP00000397212:L173F;ENSP00000449536:L173F;ENSP00000449379:L173F;ENSP00000447655:L71F;ENSP00000351083:L173F	ENSP00000324302:L173F	L	-	3	2	STXBP6	24358173	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.191000	0.50981	1.081000	0.41110	0.460000	0.39030	TTG		0.562	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409166.1			5	88	0	0	0	0.001168	0	5	88				
OR4C46	119749	broad.mit.edu	37	11	51515583	51515583	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:51515583G>A	ENST00000328188.1	+	1	302	c.302G>A	c.(301-303)gGa>gAa	p.G101E		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CAAGTCTTTGGAGAACATTTC	0.463																																						ENST00000328188.1																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(301-303)gGa>gAa		olfactory receptor, family 4, subfamily C, member 46							145.0	138.0	140.0					11																	51515583		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515583G>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.302G>A	11.37:g.51515583G>A	ENSP00000329056:p.Gly101Glu						p.G101E	NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	302	+			101						Missense_Mutation	SNP	ENST00000328188.1	37	c.302G>A	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	2.214	-0.380051	0.05000	.	.	ENSG00000185926	ENST00000328188	T	0.01099	5.34	2.63	-3.51	0.04696	GPCR, rhodopsin-like superfamily (1);	0.148025	0.31221	N	0.008036	T	0.00936	0.0031	L	0.31926	0.97	0.09310	N	1	B	0.23442	0.085	B	0.21708	0.036	T	0.45731	-0.9241	10	0.41790	T	0.15	.	7.7514	0.28898	0.0:0.47:0.3718:0.1581	.	101	A6NHA9	O4C46_HUMAN	E	101	ENSP00000329056:G101E	ENSP00000329056:G101E	G	+	2	0	OR4C46	51372159	0.000000	0.05858	0.069000	0.20011	0.047000	0.14425	-0.085000	0.11250	-0.374000	0.07967	0.134000	0.15878	GGA		0.463	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		21	69	0	0	0	0.012319	0	21	69				
UNC93A	54346	broad.mit.edu	37	6	167728907	167728907	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:167728907G>A	ENST00000230256.3	+	8	1516	c.1341G>A	c.(1339-1341)caG>caA	p.Q447Q	UNC93A_ENST00000366829.2_Silent_p.Q405Q	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	447						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGGTCAACCAGGCAGAGGATG	0.532																																						ENST00000230256.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(1339-1341)caG>caA		unc-93 homolog A (C. elegans)							141.0	155.0	150.0					6																	167728907		2203	4300	6503	SO:0001819	synonymous_variant	54346					integral to membrane|plasma membrane		g.chr6:167728907G>A	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1341G>A	6.37:g.167728907G>A						UNC93A_ENST00000366829.2_Silent_p.Q405Q	p.Q447Q	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	8	1516	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	447					B3KRP5|Q4QQJ4|Q5JZD6	Silent	SNP	ENST00000230256.3	37	c.1341G>A	CCDS5300.1																																																																																				0.532	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		38	61	0	0	0	0.007835	0	38	61				
ANLN	54443	broad.mit.edu	37	7	36459826	36459826	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:36459826G>C	ENST00000265748.2	+	11	2139	c.1918G>C	c.(1918-1920)Gat>Cat	p.D640H	ANLN_ENST00000396068.2_Missense_Mutation_p.D603H	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	640	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGCAGAAGTGATGAAAGTCC	0.403																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(1918-1920)Gat>Cat		anillin, actin binding protein							102.0	100.0	101.0					7																	36459826		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36459826G>C	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1918G>C	7.37:g.36459826G>C	ENSP00000265748:p.Asp640His					ANLN_ENST00000396068.2_Missense_Mutation_p.D603H	p.D640H	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			11	2139	+			640			Interaction with F-actin.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.1918G>C	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115314	0.77323	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.13307	2.6;2.62	5.57	5.57	0.84162	.	0.471230	0.26967	N	0.021582	T	0.28234	0.0697	L	0.36672	1.1	0.37459	D	0.915139	D;D;D;D	0.71674	0.998;0.996;0.998;0.996	P;P;D;P	0.65684	0.838;0.867;0.937;0.867	T	0.02301	-1.1180	10	0.54805	T	0.06	-8.2207	17.7376	0.88399	0.0:0.0:1.0:0.0	.	517;602;603;640	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	H	640;603	ENSP00000265748:D640H;ENSP00000379380:D603H	ENSP00000265748:D640H	D	+	1	0	ANLN	36426351	1.000000	0.71417	0.996000	0.52242	0.930000	0.56654	2.062000	0.41413	2.630000	0.89119	0.655000	0.94253	GAT		0.403	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		7	57	0	0	0	0.001984	0	7	57				
SEL1L2	80343	broad.mit.edu	37	20	13839917	13839917	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:13839917G>A	ENST00000284951.5	-	18	1883	c.1809C>T	c.(1807-1809)ggC>ggT	p.G603G	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	603						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CCTTTGTGATGCCTAAGCCGT	0.393																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1807-1809)ggC>ggT		sel-1 suppressor of lin-12-like 2 (C. elegans)							177.0	159.0	165.0					20																	13839917		2002	4174	6176	SO:0001819	synonymous_variant	80343					integral to membrane	binding	g.chr20:13839917G>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1809C>T	20.37:g.13839917G>A						SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Intron	p.G603G			Q5TEA6	SE1L2_HUMAN			18	1883	-			603					B4DXX5	Silent	SNP	ENST00000284951.5	37	c.1809C>T																																																																																					0.393	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		11	12	0	0	0	0.010729	0	11	12				
PIKFYVE	200576	broad.mit.edu	37	2	209191008	209191008	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:209191008G>T	ENST00000264380.4	+	20	3631	c.3473G>T	c.(3472-3474)aGa>aTa	p.R1158I		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1158					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TATCGAGCCAGAGGAGGAAGA	0.463																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(3472-3474)aGa>aTa		phosphoinositide kinase, FYVE finger containing							64.0	63.0	63.0					2																	209191008		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209191008G>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3473G>T	2.37:g.209191008G>T	ENSP00000264380:p.Arg1158Ile						p.R1158I	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			20	3631	+			1158					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.3473G>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508127	0.64410	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.31247	1.5;1.68	5.58	5.58	0.84498	.	0.241348	0.47093	D	0.000257	T	0.53206	0.1782	L	0.56769	1.78	0.80722	D	1	P;D	0.67145	0.93;0.996	B;D	0.71656	0.36;0.974	T	0.43734	-0.9373	9	.	.	.	-20.1379	19.5743	0.95436	0.0:0.0:1.0:0.0	.	1158;1102	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	I	1158;734;1102	ENSP00000264380:R1158I;ENSP00000405736:R1102I	.	R	+	2	0	PIKFYVE	208899253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.283000	0.65621	2.611000	0.88343	0.655000	0.94253	AGA		0.463	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		8	31	1	0	0.00307968	0.003080	0.00324748	8	31				
PEX5L	51555	broad.mit.edu	37	3	179525537	179525537	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:179525537G>T	ENST00000467460.1	-	14	1931	c.1601C>A	c.(1600-1602)gCa>gAa	p.A534E	PEX5L_ENST00000464614.1_Missense_Mutation_p.A426E|PEX5L_ENST00000465751.1_Missense_Mutation_p.A510E|PEX5L_ENST00000485199.1_Missense_Mutation_p.A499E|PEX5L_ENST00000392649.3_Missense_Mutation_p.A426E|PEX5L_ENST00000263962.8_Missense_Mutation_p.A532E|PEX5L_ENST00000468741.1_Missense_Mutation_p.A342E|PEX5L_ENST00000472994.1_Missense_Mutation_p.A475E|PEX5L_ENST00000476138.1_Missense_Mutation_p.A491E|PEX5L_ENST00000467440.2_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	534					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AATCTCCAGTGCTCGCGTATA	0.552																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1600-1602)gCa>gAa		peroxisomal biogenesis factor 5-like							160.0	161.0	160.0					3																	179525537		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179525537G>T	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1601C>A	3.37:g.179525537G>T	ENSP00000419975:p.Ala534Glu					PEX5L_ENST00000485199.1_Missense_Mutation_p.A499E|PEX5L_ENST00000472994.1_Missense_Mutation_p.A475E|PEX5L_ENST00000468741.1_Missense_Mutation_p.A342E|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.A510E|PEX5L_ENST00000476138.1_Missense_Mutation_p.A491E|PEX5L_ENST00000464614.1_Missense_Mutation_p.A426E|PEX5L_ENST00000392649.3_Missense_Mutation_p.A426E|PEX5L_ENST00000263962.8_Missense_Mutation_p.A532E	p.A534E	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		14	1931	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		534					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.1601C>A	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291352	0.80914	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.97523	0.9189	H	0.99573	4.635	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.972;0.959;0.984	D	0.98346	1.0541	10	0.87932	D	0	-15.4426	20.6525	0.99598	0.0:0.0:1.0:0.0	.	475;510;426;532;499;534	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	E	534;532;499;532;426;342;491;422;475;426;510	ENSP00000419975:A534E;ENSP00000263962:A532E;ENSP00000418440:A499E;ENSP00000376420:A426E;ENSP00000418665:A342E;ENSP00000420555:A491E;ENSP00000418054:A475E;ENSP00000417270:A426E;ENSP00000419348:A510E	ENSP00000263962:A532E	A	-	2	0	PEX5L	181008231	1.000000	0.71417	0.425000	0.26659	0.225000	0.24961	9.776000	0.99001	2.890000	0.99128	0.585000	0.79938	GCA		0.552	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		63	108	1	0	7.82978e-24	0.003610	9.50553e-24	63	108				
TRBV6-6	28601	broad.mit.edu	37	7	142161958	142161958	+	RNA	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:142161958G>C	ENST00000390371.3	-	0	360									T cell receptor beta variable 6-6																		GAAGTACACAGATGTCTGGGA	0.547																																						ENST00000390371.3																			0																				217.0	220.0	219.0					7																	142161958		1976	4159	6135			28601							g.chr7:142161958G>C	L36092		7q34	2012-02-07			ENSG00000211724	ENSG00000211724		"""T cell receptors / TRB locus"""	12231	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV66, TCRBV13S6A2T, TCRBV6S6			OTTHUMG00000158509		7.37:g.142161958G>C														0	360	-									RNA	SNP	ENST00000390371.3	37																																																																																						0.547	TRBV6-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351215.2	NG_001333		31	211	0	0	0	0.004289	0	31	211				
LCMT1	51451	broad.mit.edu	37	16	25175987	25175987	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:25175987T>A	ENST00000399069.3	+	7	793	c.638T>A	c.(637-639)cTg>cAg	p.L213Q	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Missense_Mutation_p.L158Q	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	213					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GCAAACCTCCTGAAGTGGGCA	0.448																																					Colon(200;565 2072 24396 47922 50898)	ENST00000399069.3																			0											c.(637-639)cTg>cAg		leucine carboxyl methyltransferase 1	L-Leucine(DB00149)						109.0	102.0	104.0					16																	25175987		1926	4156	6082	SO:0001583	missense	51451						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	g.chr16:25175987T>A	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.638T>A	16.37:g.25175987T>A	ENSP00000382021:p.Leu213Gln					LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Missense_Mutation_p.L158Q	p.L213Q	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	7	793	+			213					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	ENST00000399069.3	37	c.638T>A	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.037043	0.75617	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.33216	1.42;1.42	5.83	5.83	0.93111	.	0.526187	0.19888	N	0.103802	T	0.61135	0.2323	M	0.87328	2.875	0.30099	N	0.807627	D;D	0.76494	0.999;0.999	D;D	0.79108	0.985;0.992	T	0.67268	-0.5713	10	0.87932	D	0	-4.8906	14.1403	0.65316	0.0:0.0:0.0:1.0	.	158;213	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	Q	213;158;230	ENSP00000382021:L213Q;ENSP00000370353:L158Q	ENSP00000370349:L230Q	L	+	2	0	LCMT1	25083488	0.944000	0.32072	0.010000	0.14722	0.863000	0.49368	7.262000	0.78410	2.215000	0.71742	0.460000	0.39030	CTG		0.448	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		9	44	0	0	0	0.008291	0	9	44				
CCDC170	80129	broad.mit.edu	37	6	151859372	151859372	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:151859372C>T	ENST00000239374.7	+	3	478	c.379C>T	c.(379-381)Cac>Tac	p.H127Y	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000367290.5_Missense_Mutation_p.H127Y	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	127																	AATCACAGCTCACGCTGCAAT	0.363																																						ENST00000367290.5																			0											c.(379-381)Cac>Tac		coiled-coil domain containing 170							68.0	58.0	61.0					6																	151859372		1841	4098	5939	SO:0001583	missense	80129							g.chr6:151859372C>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.379C>T	6.37:g.151859372C>T	ENSP00000239374:p.His127Tyr					CCDC170_ENST00000239374.7_Missense_Mutation_p.H127Y|CCDC170_ENST00000544131.1_3'UTR	p.H127Y			Q8IYT3	CF097_HUMAN			3	468	+			127					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.379C>T	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	C	7.670	0.686703	0.14973	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.08807	3.05;3.05	5.68	3.85	0.44370	.	0.519797	0.22100	N	0.064628	T	0.03608	0.0103	M	0.68317	2.08	0.09310	N	1	P	0.39282	0.666	B	0.34242	0.178	T	0.26018	-1.0115	10	0.59425	D	0.04	-5.5456	7.3454	0.26660	0.1365:0.7244:0.0:0.1391	.	127	Q8IYT3	CF097_HUMAN	Y	127	ENSP00000239374:H127Y;ENSP00000356259:H127Y	ENSP00000239374:H127Y	H	+	1	0	C6orf97	151901065	0.996000	0.38824	0.371000	0.25978	0.034000	0.12701	3.484000	0.53201	1.412000	0.46977	-0.150000	0.13652	CAC		0.363	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		10	29	0	0	0	0.008291	0	10	29				
GABRB2	2561	broad.mit.edu	37	5	160758096	160758096	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:160758096G>T	ENST00000393959.1	-	8	870	c.871C>A	c.(871-873)Cac>Aac	p.H291N	GABRB2_ENST00000517547.1_Missense_Mutation_p.H131N|GABRB2_ENST00000517901.1_Missense_Mutation_p.H228N|GABRB2_ENST00000520240.1_Missense_Mutation_p.H291N|GABRB2_ENST00000274547.2_Missense_Mutation_p.H291N|GABRB2_ENST00000353437.6_Missense_Mutation_p.H291N			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	291	Allosteric effector binding. {ECO:0000250}.				cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCCCGGAGGTGGGTGTTGATT	0.423																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(871-873)Cac>Aac		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						174.0	180.0	178.0					5																	160758096		2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160758096G>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.871C>A	5.37:g.160758096G>T	ENSP00000377531:p.His291Asn					GABRB2_ENST00000520240.1_Missense_Mutation_p.H291N|GABRB2_ENST00000517547.1_Missense_Mutation_p.H131N|GABRB2_ENST00000393959.1_Missense_Mutation_p.H291N|GABRB2_ENST00000353437.6_Missense_Mutation_p.H291N|GABRB2_ENST00000517901.1_Missense_Mutation_p.H228N	p.H291N	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1088	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	291					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.871C>A	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258256	0.39896	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.17	5.17	0.71159	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.099352	0.64402	D	0.000002	D	0.86385	0.5920	N	0.12920	0.275	0.80722	D	1	D;B;B;B	0.69078	0.997;0.318;0.043;0.307	D;P;B;B	0.79108	0.992;0.477;0.241;0.204	D	0.87717	0.2570	10	0.44086	T	0.13	.	18.6681	0.91499	0.0:0.0:1.0:0.0	.	131;228;291;291	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	N	291;291;291;291;228;131	ENSP00000377531:H291N;ENSP00000274547:H291N;ENSP00000274546:H291N;ENSP00000429320:H291N;ENSP00000430532:H228N;ENSP00000429750:H131N	ENSP00000274547:H291N	H	-	1	0	GABRB2	160690674	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.706000	0.98722	2.400000	0.81607	0.563000	0.77884	CAC		0.423	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			14	61	1	0	1.05317e-09	0.002450	1.21577e-09	14	61				
LPIN1	23175	broad.mit.edu	37	2	11911611	11911611	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:11911611C>T	ENST00000256720.2	+	4	495	c.402C>T	c.(400-402)agC>agT	p.S134S	LPIN1_ENST00000425416.2_Silent_p.S140S|LPIN1_ENST00000396098.1_Silent_p.S140S|LPIN1_ENST00000396099.1_Silent_p.S140S|LPIN1_ENST00000449576.2_Silent_p.S183S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	134					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGGACCCCAGCACGCCAGCCC	0.572																																						ENST00000256720.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(400-402)agC>agT		lipin 1							55.0	56.0	56.0					2																	11911611		2203	4300	6503	SO:0001819	synonymous_variant	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11911611C>T	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.402C>T	2.37:g.11911611C>T						LPIN1_ENST00000396098.1_Silent_p.S140S|LPIN1_ENST00000449576.2_Silent_p.S183S|LPIN1_ENST00000425416.2_Silent_p.S140S|LPIN1_ENST00000396099.1_Silent_p.S140S	p.S134S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	4	495	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		134					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	37	c.402C>T	CCDS1682.1																																																																																				0.572	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		3	24	0	0	0	0.004672	0	3	24				
PRRX2	51450	broad.mit.edu	37	9	132481518	132481518	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:132481518C>T	ENST00000372469.4	+	2	495	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S	RP11-483H20.6_ENST00000440413.1_RNA	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	90				P -> S (in Ref. 5; AAB39864). {ECO:0000305}.	artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				AGGTGAGTGTCCCAGCCCGGG	0.657																																						ENST00000372469.4																			0				lung(2)|pancreas(1)	3						c.(268-270)Ccc>Tcc		paired related homeobox 2							13.0	16.0	15.0					9																	132481518		2178	4288	6466	SO:0001583	missense	51450					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:132481518C>T	AF061970	CCDS6926.1	9q34.11	2011-06-20			ENSG00000167157	ENSG00000167157		"""Homeoboxes / PRD class"""	21338	protein-coding gene	gene with protein product		604675				11063257	Standard	NM_016307		Approved	PRX2, PMX2	uc004byh.3	Q99811	OTTHUMG00000020790	ENST00000372469.4:c.268C>T	9.37:g.132481518C>T	ENSP00000361547:p.Pro90Ser						p.P90S	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN			2	495	+		Ovarian(14;0.00556)	90	P -> S (in Ref. 5; AAB39864).				Q5SZB5|Q9UIB3	Missense_Mutation	SNP	ENST00000372469.4	37	c.268C>T	CCDS6926.1	.	.	.	.	.	.	.	.	.	.	C	8.569	0.879537	0.17467	.	.	ENSG00000167157	ENST00000372469	D	0.89681	-2.55	4.41	4.41	0.53225	Homeodomain-related (1);	0.300464	0.31312	N	0.007868	T	0.80518	0.4638	N	0.24115	0.695	0.43025	D	0.994584	B	0.29909	0.261	B	0.29353	0.101	T	0.76862	-0.2802	10	0.09338	T	0.73	.	16.1532	0.81636	0.0:1.0:0.0:0.0	.	90	Q99811	PRRX2_HUMAN	S	90	ENSP00000361547:P90S	ENSP00000361547:P90S	P	+	1	0	PRRX2	131521339	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	3.081000	0.50120	2.302000	0.77476	0.462000	0.41574	CCC		0.657	PRRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054598.2	NM_016307		6	3	0	0	0	0.001984	0	6	3				
TGS1	96764	broad.mit.edu	37	8	56717593	56717593	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:56717593G>C	ENST00000260129.5	+	10	2618	c.2141G>C	c.(2140-2142)aGa>aCa	p.R714T		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	714	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ACAGGAATGAGAGGTAATTAG	0.378																																					Esophageal Squamous(34;275 823 4842 34837 48447)	ENST00000260129.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2140-2142)aGa>aCa		trimethylguanosine synthase 1							167.0	140.0	149.0					8																	56717593		2203	4300	6503	SO:0001583	missense	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56717593G>C	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.2141G>C	8.37:g.56717593G>C	ENSP00000260129:p.Arg714Thr						p.R714T	NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		10	2618	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	714			Sufficient for catalytic activity.		A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	c.2141G>C	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096927	0.56075	.	.	ENSG00000137574	ENST00000260129	T	0.50813	0.73	5.46	1.49	0.22878	.	0.233456	0.51477	N	0.000094	T	0.48370	0.1496	M	0.80508	2.5	0.53688	D	0.999975	P;P	0.34587	0.458;0.458	B;B	0.38327	0.271;0.271	T	0.43589	-0.9382	10	0.87932	D	0	-12.0178	6.3774	0.21515	0.2262:0.1315:0.6423:0.0	.	714;714	B2RBJ7;Q96RS0	.;TGS1_HUMAN	T	714	ENSP00000260129:R714T	ENSP00000260129:R714T	R	+	2	0	TGS1	56880147	1.000000	0.71417	0.979000	0.43373	0.937000	0.57800	2.769000	0.47654	-0.010000	0.14271	0.650000	0.86243	AGA		0.378	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		15	73	0	0	0	0.003163	0	15	73				
PAK6	56924	broad.mit.edu	37	15	40568201	40568201	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:40568201A>T	ENST00000542403.2	+	9	2063	c.1952A>T	c.(1951-1953)gAg>gTg	p.E651V	PAK6_ENST00000455577.2_Missense_Mutation_p.E606V|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.E651V|PAK6_ENST00000260404.4_Missense_Mutation_p.E651V|PAK6_ENST00000560346.1_Missense_Mutation_p.E651V|PAK6_ENST00000453867.1_Missense_Mutation_p.E651V	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	651	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		ACAGCCCAGGAGCTCCTAGAC	0.627																																						ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(1816-1818)gAg>gTg		p21 protein (Cdc42/Rac)-activated kinase 6							114.0	119.0	117.0					15																	40568201		2203	4300	6503	SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40568201A>T	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1952A>T	15.37:g.40568201A>T	ENSP00000439597:p.Glu651Val					RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.E651V|PAK6_ENST00000260404.4_Missense_Mutation_p.E651V|PAK6_ENST00000441369.1_Missense_Mutation_p.E651V|PAK6_ENST00000542403.2_Missense_Mutation_p.E651V|PAK6_ENST00000453867.1_Missense_Mutation_p.E651V	p.E606V	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	10	2729	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	651			Protein kinase.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.1817A>T	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.902894	0.92035	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.51325	2.25;2.25;0.71;2.25;2.25	4.48	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053458	0.64402	D	0.000001	T	0.67249	0.2873	M	0.84433	2.695	0.80722	D	1	D;P	0.69078	0.997;0.592	P;B	0.59171	0.853;0.207	T	0.74899	-0.3507	10	0.87932	D	0	.	13.9615	0.64182	1.0:0.0:0.0:0.0	.	651;606	Q9NQU5;G5E9R2	PAK6_HUMAN;.	V	651;651;606;651;651	ENSP00000406873:E651V;ENSP00000401153:E651V;ENSP00000409465:E606V;ENSP00000260404:E651V;ENSP00000439597:E651V	ENSP00000260404:E651V	E	+	2	0	PAK6	38355493	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.139000	0.94554	1.884000	0.54569	0.459000	0.35465	GAG		0.627	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			17	57	0	0	0	0.004007	0	17	57				
IQCK	124152	broad.mit.edu	37	16	19838428	19838428	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:19838428C>T	ENST00000320394.6	+	9	1470	c.771C>T	c.(769-771)gtC>gtT	p.V257V	IQCK_ENST00000541926.1_Missense_Mutation_p.S229L|IQCK_ENST00000433597.2_Silent_p.V169V|IQCK_ENST00000562762.1_3'UTR|IQCK_ENST00000564186.1_Silent_p.V257V	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	257										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						ACCAGCAAGTCAAAATTTTCT	0.443																																						ENST00000541926.1																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(685-687)tCa>tTa		IQ motif containing K							99.0	96.0	97.0					16																	19838428		2197	4300	6497	SO:0001819	synonymous_variant	124152							g.chr16:19838428C>T	AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.771C>T	16.37:g.19838428C>T						IQCK_ENST00000562762.1_3'UTR|IQCK_ENST00000564186.1_Silent_p.V257V|IQCK_ENST00000320394.6_Silent_p.V257V|IQCK_ENST00000433597.2_Silent_p.V169V	p.229_229insL			Q8N0W5	IQCK_HUMAN			7	708	+			0					B2RDU0|O43327|Q8NFF4	Missense_Mutation	SNP	ENST00000320394.6	37	c.686C>T	CCDS10580.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536957	0.65085	.	.	ENSG00000174628	ENST00000541926	.	.	.	5.73	2.39	0.29439	.	.	.	.	.	T	0.52322	0.1727	.	.	.	0.54753	D	0.999989	P	0.40180	0.705	B	0.44044	0.439	T	0.46359	-0.9197	6	.	.	.	-16.8216	10.2929	0.43608	0.1157:0.5041:0.3801:0.0	.	229	B4DXE1	.	L	229	.	.	S	+	2	0	IQCK	19745929	0.278000	0.24230	0.679000	0.29978	0.858000	0.48976	0.410000	0.21098	0.874000	0.35823	0.655000	0.94253	TCA		0.443	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	NM_153208		7	40	0	0	0	0.001984	0	7	40				
NUAK2	81788	broad.mit.edu	37	1	205272902	205272902	+	Silent	SNP	G	G	A	rs565958619		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:205272902G>A	ENST00000367157.3	-	7	1689	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCAGGGAGCCGAAGGTGGTGG	0.647													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15868	0.0		0.0	False		,,,				2504	0.0					ENST00000367157.3																			0				breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(1561-1563)ttC>ttT		NUAK family, SNF1-like kinase, 2							35.0	42.0	40.0					1																	205272902		2202	4296	6498	SO:0001819	synonymous_variant	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205272902G>A	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1563C>T	1.37:g.205272902G>A							p.F521F	NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		7	1689	-	Breast(84;0.186)		521						Silent	SNP	ENST00000367157.3	37	c.1563C>T	CCDS1453.1																																																																																				0.647	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		7	41	0	0	0	0.003080	0	7	41				
BVES	11149	broad.mit.edu	37	6	105573428	105573428	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:105573428C>G	ENST00000314641.5	-	4	593	c.377G>C	c.(376-378)gGc>gCc	p.G126A	BVES_ENST00000446408.2_Missense_Mutation_p.G126A|BVES_ENST00000336775.5_Missense_Mutation_p.G126A	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	126					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CCGGTACATGCCACTGAGTTC	0.438																																						ENST00000314641.5																			0				NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(376-378)gGc>gCc		blood vessel epicardial substance							142.0	135.0	138.0					6																	105573428		2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105573428C>G	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.377G>C	6.37:g.105573428C>G	ENSP00000313172:p.Gly126Ala					BVES_ENST00000446408.2_Missense_Mutation_p.G126A|BVES_ENST00000336775.5_Missense_Mutation_p.G126A	p.G126A	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN			4	593	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	126					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.377G>C	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403441	0.25291	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.26518	1.73;1.73;1.73	5.64	4.77	0.60923	.	0.284136	0.40818	N	0.001020	T	0.06416	0.0165	N	0.13098	0.295	0.09310	N	0.999998	B	0.24675	0.109	B	0.30029	0.11	T	0.34700	-0.9818	10	0.11485	T	0.65	-13.1151	16.5505	0.84471	0.0:0.869:0.1309:0.0	.	126	Q8NE79	POPD1_HUMAN	A	126	ENSP00000313172:G126A;ENSP00000337259:G126A;ENSP00000397310:G126A	ENSP00000313172:G126A	G	-	2	0	BVES	105680121	0.667000	0.27484	0.492000	0.27490	0.967000	0.64934	3.801000	0.55545	1.355000	0.45865	-0.175000	0.13238	GGC		0.438	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		13	67	0	0	0	0.002450	0	13	67				
LTBP3	4054	broad.mit.edu	37	11	65308358	65308358	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:65308358G>A	ENST00000301873.5	-	21	3229	c.2961C>T	c.(2959-2961)ggC>ggT	p.G987G	LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000532932.1_Silent_p.G417G|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000536982.1_Silent_p.G613G|LTBP3_ENST00000322147.4_Silent_p.G987G	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	987					bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GGGCTGGGATGCCGTAGTTGA	0.706											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(2959-2961)ggC>ggT		latent transforming growth factor beta binding protein 3							128.0	114.0	118.0					11																	65308358		2201	4297	6498	SO:0001819	synonymous_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65308358G>A	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2961C>T	11.37:g.65308358G>A			OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000322147.4_Silent_p.G987G|LTBP3_ENST00000536982.1_Silent_p.G613G|LTBP3_ENST00000532932.1_Silent_p.G417G	p.G987G	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			21	3229	-			987					O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	ENST00000301873.5	37	c.2961C>T	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398313	0.25205	.	.	ENSG00000168056	ENST00000526927	.	.	.	4.45	2.5	0.30297	.	.	.	.	.	T	0.46034	0.1372	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27088	-1.0084	4	.	.	.	.	3.3	0.06979	0.0968:0.1744:0.5485:0.1803	.	.	.	.	Y	638	.	.	H	-	1	0	LTBP3	65064934	0.989000	0.36119	0.999000	0.59377	0.984000	0.73092	0.574000	0.23714	0.302000	0.22762	0.455000	0.32223	CAT		0.706	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		5	6	0	0	0	0.000602	0	5	6				
NUAK1	9891	broad.mit.edu	37	12	106461427	106461427	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:106461427G>A	ENST00000261402.2	-	7	2518	c.1139C>T	c.(1138-1140)tCt>tTt	p.S380F		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	380					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						ATCCTGACCAGACTGAGCAAA	0.542																																						ENST00000261402.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(1138-1140)tCt>tTt		NUAK family, SNF1-like kinase, 1							116.0	108.0	111.0					12																	106461427		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106461427G>A	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1139C>T	12.37:g.106461427G>A	ENSP00000261402:p.Ser380Phe						p.S380F	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			7	2518	-			380					A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.1139C>T	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425757	0.43020	.	.	ENSG00000074590	ENST00000261402;ENST00000553094	T;T	0.73897	-0.79;1.43	5.66	5.66	0.87406	.	0.101474	0.44483	D	0.000459	D	0.82453	0.5040	M	0.65498	2.005	0.47065	D	0.999306	P	0.40332	0.713	P	0.50231	0.635	T	0.83174	-0.0092	10	0.72032	D	0.01	.	19.7587	0.96304	0.0:0.0:1.0:0.0	.	380	O60285	NUAK1_HUMAN	F	380;95	ENSP00000261402:S380F;ENSP00000446873:S95F	ENSP00000261402:S380F	S	-	2	0	NUAK1	104985557	0.999000	0.42202	0.942000	0.38095	0.424000	0.31475	2.937000	0.48979	2.663000	0.90544	0.555000	0.69702	TCT		0.542	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		26	65	0	0	0	0.005443	0	26	65				
NLRP7	199713	broad.mit.edu	37	19	55447788	55447788	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:55447788A>G	ENST00000590030.1	-	5	2181	c.2141T>C	c.(2140-2142)gTc>gCc	p.V714A	NLRP7_ENST00000340844.2_Missense_Mutation_p.V714A|NLRP7_ENST00000328092.5_Missense_Mutation_p.V686A|NLRP7_ENST00000592784.1_Missense_Mutation_p.V714A|NLRP7_ENST00000588756.1_Missense_Mutation_p.V714A|NLRP7_ENST00000448121.2_Missense_Mutation_p.V686A|NLRP7_ENST00000446217.1_Missense_Mutation_p.V742A			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	714							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTCAGGGGTGACGTTTTTAAT	0.483																																						ENST00000588756.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(2140-2142)gTc>gCc		NLR family, pyrin domain containing 7							75.0	69.0	71.0					19																	55447788		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55447788A>G	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2141T>C	19.37:g.55447788A>G	ENSP00000465520:p.Val714Ala					NLRP7_ENST00000340844.2_Missense_Mutation_p.V714A|NLRP7_ENST00000592784.1_Missense_Mutation_p.V714A|NLRP7_ENST00000590030.1_Missense_Mutation_p.V714A|NLRP7_ENST00000446217.1_Missense_Mutation_p.V742A|NLRP7_ENST00000328092.5_Missense_Mutation_p.V686A|NLRP7_ENST00000448121.2_Missense_Mutation_p.V686A	p.V714A			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	8	2627	-			714					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.2141T>C	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023244	0.35701	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T	0.52983	0.64;0.64;0.64	2.21	2.21	0.28008	.	1.687780	0.04069	N	0.307749	T	0.38506	0.1043	N	0.21373	0.66	0.09310	N	1	B;B;B;B	0.31705	0.227;0.227;0.227;0.336	B;B;B;B	0.39258	0.194;0.194;0.248;0.295	T	0.38351	-0.9665	10	0.22706	T	0.39	.	6.4121	0.21696	1.0:0.0:0.0:0.0	.	742;714;714;686	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	A	714;686;714;742;481	ENSP00000409137:V686A;ENSP00000339491:V714A;ENSP00000414273:V742A	ENSP00000329568:V714A	V	-	2	0	NLRP7	60139600	0.000000	0.05858	0.004000	0.12327	0.531000	0.34715	0.212000	0.17497	1.288000	0.44600	0.459000	0.35465	GTC		0.483	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		6	14	0	0	0	0.001168	0	6	14				
ZNF324B	388569	broad.mit.edu	37	19	58967773	58967773	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:58967773C>T	ENST00000336614.4	+	4	1569	c.1462C>T	c.(1462-1464)Cgc>Tgc	p.R488C	ZNF324B_ENST00000391696.1_Missense_Mutation_p.R478C|ZNF324B_ENST00000545523.1_Missense_Mutation_p.R488C	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCAGTGTGGCCGCGCCTTCCG	0.662																																						ENST00000391696.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1432-1434)Cgc>Tgc		zinc finger protein 324B							69.0	74.0	72.0					19																	58967773		2203	4300	6503	SO:0001583	missense	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58967773C>T	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.1462C>T	19.37:g.58967773C>T	ENSP00000337473:p.Arg488Cys					ZNF324B_ENST00000545523.1_Missense_Mutation_p.R488C|ZNF324B_ENST00000336614.4_Missense_Mutation_p.R488C	p.R478C			Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	2364	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	488					B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	c.1432C>T	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005190	0.35415	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.19806	2.12;2.12;2.12	3.22	2.05	0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39475	N	0.001353	T	0.35422	0.0931	M	0.69248	2.105	0.40656	D	0.982085	D;D	0.71674	0.998;0.989	P;P	0.62740	0.906;0.547	T	0.21827	-1.0234	10	0.87932	D	0	.	7.3715	0.26804	0.3965:0.6035:0.0:0.0	.	488;478	Q6AW86;C9JTQ8	Z324B_HUMAN;.	C	488;488;478	ENSP00000337473:R488C;ENSP00000438930:R488C;ENSP00000375578:R478C	ENSP00000337473:R488C	R	+	1	0	ZNF324B	63659585	0.040000	0.19996	0.506000	0.27664	0.017000	0.09413	1.303000	0.33470	1.784000	0.52394	0.591000	0.81541	CGC		0.662	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		7	43	0	0	0	0.003080	0	7	43				
TONSL	4796	broad.mit.edu	37	8	145662239	145662239	+	Silent	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:145662239T>C	ENST00000409379.3	-	15	1820	c.1791A>G	c.(1789-1791)gaA>gaG	p.E597E	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	597					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGGTGATGCCTTCGCAGCCCT	0.657																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(1789-1791)gaA>gaG		tonsoku-like, DNA repair protein							71.0	72.0	72.0					8																	145662239		2203	4299	6502	SO:0001819	synonymous_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145662239T>C		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1791A>G	8.37:g.145662239T>C						AC084125.4_ENST00000544423.1_RNA	p.E597E	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			15	1820	-			597					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	c.1791A>G	CCDS34968.2																																																																																				0.657	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		46	54	0	0	0	0.003610	0	46	54				
CACNA2D3	55799	broad.mit.edu	37	3	54420765	54420765	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:54420765A>T	ENST00000474759.1	+	4	393	c.345A>T	c.(343-345)gaA>gaT	p.E115D	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E115D|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E21D|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E115D	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	115						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CTGCAGAAGAAGCACACCTGA	0.393																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(343-345)gaA>gaT		calcium channel, voltage-dependent, alpha 2/delta subunit 3							96.0	92.0	93.0					3																	54420765		1860	4100	5960	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54420765A>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.345A>T	3.37:g.54420765A>T	ENSP00000419101:p.Glu115Asp					CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E115D|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E21D|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E115D	p.E115D	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	4	393	+			115					B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.345A>T	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	A	12.54	1.969415	0.34754	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000492460;ENST00000398624;ENST00000438476	T;T;T;T;T	0.45276	3.0;3.0;3.0;3.06;0.9	5.63	-3.47	0.04753	VWA N-terminal (1);	0.250522	0.38272	N	0.001746	T	0.23054	0.0557	N	0.21448	0.665	0.27648	N	0.947508	B	0.12630	0.006	B	0.20184	0.028	T	0.27938	-1.0059	10	0.14656	T	0.56	.	12.3522	0.55155	0.4529:0.0:0.5471:0.0	.	115	Q8IZS8	CA2D3_HUMAN	D	115;115;115;21;21;21;20	ENSP00000389506:E115D;ENSP00000419101:E115D;ENSP00000288197:E115D;ENSP00000417279:E21D;ENSP00000418028:E21D	ENSP00000288197:E115D	E	+	3	2	CACNA2D3	54395805	0.767000	0.28508	0.979000	0.43373	0.993000	0.82548	-0.392000	0.07314	-0.515000	0.06479	-0.242000	0.12053	GAA		0.393	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			4	0	0	0	0	0.009096	0	4	0				
FAM83C	128876	broad.mit.edu	37	20	33876280	33876280	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:33876280C>A	ENST00000374408.3	-	3	886	c.790G>T	c.(790-792)Gtg>Ttg	p.V264L	FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	264										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTGCCCGCCACCACTTGCTCA	0.632																																						ENST00000374408.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(790-792)Gtg>Ttg		family with sequence similarity 83, member C							66.0	65.0	65.0					20																	33876280		2203	4300	6503	SO:0001583	missense	128876							g.chr20:33876280C>A	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.790G>T	20.37:g.33876280C>A	ENSP00000363529:p.Val264Leu						p.V264L	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		3	886	-			264					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.790G>T	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375491	0.24857	.	.	ENSG00000125998	ENST00000374408	T	0.10288	2.89	4.8	2.71	0.32032	.	0.322330	0.27567	N	0.018790	T	0.03783	0.0107	N	0.04508	-0.205	0.38008	D	0.934451	B	0.25312	0.123	B	0.26202	0.067	T	0.36625	-0.9740	10	0.09843	T	0.71	3.8208	5.3586	0.16075	0.3148:0.5858:0.0:0.0994	.	264	Q9BQN1	FA83C_HUMAN	L	264	ENSP00000363529:V264L	ENSP00000363529:V264L	V	-	1	0	FAM83C	33339694	0.808000	0.29022	0.990000	0.47175	0.694000	0.40290	0.151000	0.16283	1.157000	0.42530	0.561000	0.74099	GTG		0.632	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			6	56	1	0	0.000157383	0.003080	0.000168114	6	56				
FLG	2312	broad.mit.edu	37	1	152276145	152276145	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:152276145G>A	ENST00000368799.1	-	3	11252	c.11217C>T	c.(11215-11217)caC>caT	p.H3739H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3739	Ser-rich.		H -> Y (in dbSNP:rs7512553).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H3739H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCTGCTCGTGGCGGGATC	0.602									Ichthyosis																													ENST00000368799.1																			1	Substitution - coding silent(1)	p.H3739H(1)	lung(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11215-11217)caC>caT		filaggrin							237.0	238.0	238.0					1																	152276145		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276145G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11217C>T	1.37:g.152276145G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H3739H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11252	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3739		H -> Y (in dbSNP:rs7512553).	Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11217C>T	CCDS30860.1																																																																																				0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		16	363	0	0	0	0.003954	0	16	363				
ABCC9	10060	broad.mit.edu	37	12	21998702	21998702	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:21998702C>T	ENST00000261201.4	-	24	2930	c.2931G>A	c.(2929-2931)atG>atA	p.M977I	ABCC9_ENST00000345162.2_Missense_Mutation_p.M941I|ABCC9_ENST00000261200.4_Missense_Mutation_p.M977I|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	977					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TTTTCCATGGCATTTTAGTCC	0.423																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(2929-2931)atG>atA		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						162.0	125.0	137.0					12																	21998702		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21998702C>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2931G>A	12.37:g.21998702C>T	ENSP00000261201:p.Met977Ile					RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.M941I|ABCC9_ENST00000261201.4_Missense_Mutation_p.M977I	p.M977I	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			24	2930	-			977					O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.2931G>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	7.141	0.581766	0.13749	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90844	-2.73;-2.61;-2.74;-2.71	5.28	5.28	0.74379	ABC transporter, transmembrane domain, type 1 (1);	0.042690	0.85682	D	0.000000	T	0.79003	0.4373	N	0.04508	-0.205	0.45528	D	0.998489	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.73515	-0.3958	10	0.17832	T	0.49	-23.8659	14.6939	0.69107	0.0:0.8554:0.1446:0.0	.	977;977	O60706;O60706-2	ABCC9_HUMAN;.	I	977;604;977;941	ENSP00000261200:M977I;ENSP00000440521:M604I;ENSP00000261201:M977I;ENSP00000261202:M941I	ENSP00000261200:M977I	M	-	3	0	ABCC9	21889969	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.292000	0.59031	2.756000	0.94617	0.655000	0.94253	ATG		0.423	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		9	46	0	0	0	0.004482	0	9	46				
MLC1	23209	broad.mit.edu	37	22	50500013	50500013	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:50500013C>T	ENST00000311597.5	-	12	1739	c.1133G>A	c.(1132-1134)tGa>tAa	p.*378*	MLC1_ENST00000538737.1_Silent_p.*344*|MLC1_ENST00000450140.2_Silent_p.*326*|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000431262.2_Silent_p.*348*|MLC1_ENST00000535444.1_Silent_p.*299*|MLC1_ENST00000395876.2_Silent_p.*378*	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	0					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GTCTGGGGGTCACTGGGCCAT	0.607																																						ENST00000311597.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18						c.(1132-1134)tGa>tAa		megalencephalic leukoencephalopathy with subcortical cysts 1							63.0	59.0	60.0					22																	50500013		2203	4300	6503	SO:0001819	synonymous_variant	23209					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	g.chr22:50500013C>T	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.1133G>A	22.37:g.50500013C>T						MLC1_ENST00000395876.2_Silent_p.*378*|MLC1_ENST00000450140.2_Silent_p.*326*|MLC1_ENST00000431262.2_Silent_p.*348*|MLC1_ENST00000535444.1_Silent_p.*299*|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000538737.1_Silent_p.*344*	p.*378*	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)	12	1739	-		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)	0					B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Silent	SNP	ENST00000311597.5	37	c.1133G>A	CCDS14083.1																																																																																				0.607	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166		10	37	0	0	0	0.008291	0	10	37				
APH1A	51107	broad.mit.edu	37	1	150241157	150241157	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:150241157G>A	ENST00000369109.3	-	1	242	c.54C>T	c.(52-54)ttC>ttT	p.F18F	APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000414276.2_Silent_p.F18F|C1orf54_ENST00000369102.1_5'UTR|APH1A_ENST00000360244.4_Silent_p.F18F	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	18					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGAAAAGCGCGAAGGCCGGGC	0.652																																						ENST00000360244.4																			0				breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9						c.(52-54)ttC>ttT		APH1A gamma secretase subunit							24.0	32.0	29.0					1																	150241157		1888	4088	5976	SO:0001819	synonymous_variant	51107				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	g.chr1:150241157G>A	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.54C>T	1.37:g.150241157G>A						APH1A_ENST00000461320.1_5'UTR|C1orf54_ENST00000369102.1_5'UTR|APH1A_ENST00000369109.3_Silent_p.F18F|APH1A_ENST00000414276.2_Silent_p.F18F	p.F18F	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	546	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		18					B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Silent	SNP	ENST00000369109.3	37	c.54C>T	CCDS41390.1																																																																																				0.652	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022		4	8	0	0	0	0.001168	0	4	8				
RASA4B	100271927	broad.mit.edu	37	7	102136626	102136626	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:102136626G>T	ENST00000465829.1	-	11	1102	c.1032C>A	c.(1030-1032)agC>agA	p.S344R	RASA4B_ENST00000306682.6_Missense_Mutation_p.S272R|RP11-514P8.8_ENST00000481893.1_RNA|RASA4B_ENST00000541662.1_Missense_Mutation_p.S344R			C9J798	RAS4B_HUMAN	RAS p21 protein activator 4B	344	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			skin(1)	1						CCAGAGAGTTGCTCCGGAACA	0.542																																						ENST00000481893.1																			0				skin(1)	1						c.(814-816)agC>agA		RAS p21 protein activator 4B																																				SO:0001583	missense	100271927							g.chr7:102136626G>T		CCDS59506.1	7q22.1	2013-01-10			ENSG00000170667	ENSG00000170667		"""Pleckstrin homology (PH) domain containing"""	35202	protein-coding gene	gene with protein product							Standard	NM_001277335		Approved		uc003uzu.2	C9J798	OTTHUMG00000022944	ENST00000465829.1:c.1032C>A	7.37:g.102136626G>T	ENSP00000417895:p.Ser344Arg					RASA4B_ENST00000541662.1_Missense_Mutation_p.S344R|RASA4B_ENST00000465829.1_Missense_Mutation_p.S344R|RASA4B_ENST00000306682.6_Missense_Mutation_p.S272R	p.S272R							16	1940	-									Missense_Mutation	SNP	ENST00000465829.1	37	c.816C>A		.	.	.	.	.	.	.	.	.	.	.	15.66	2.898495	0.52227	.	.	ENSG00000170667	ENST00000541662;ENST00000465829;ENST00000481893;ENST00000306682	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	4.05	4.05	0.47172	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.28928	0.0718	L	0.41710	1.295	0.43693	D	0.996142	D;D;D	0.71674	0.996;0.996;0.998	D;D;D	0.72338	0.962;0.944;0.977	T	0.01743	-1.1283	10	0.66056	D	0.02	.	9.4406	0.38666	0.1006:0.0:0.8994:0.0	.	272;344;344	F8W6L0;F5GXT2;C9J798	.;.;RAS4B_HUMAN	R	344;344;272;272	ENSP00000440982:S344R;ENSP00000417895:S344R;ENSP00000419967:S272R;ENSP00000303968:S272R	ENSP00000303968:S272R	S	-	3	2	RASA4B	101923631	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	3.519000	0.53458	1.978000	0.57642	0.455000	0.32223	AGC		0.542	RASA4B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000059600.6	XM_003118600		17	121	1	0	5.35356e-11	0.002780	6.24582e-11	17	121				
TET2	54790	broad.mit.edu	37	4	106157411	106157411	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:106157411G>A	ENST00000540549.1	+	3	3172	c.2312G>A	c.(2311-2313)aGa>aAa	p.R771K	TET2_ENST00000545826.1_Missense_Mutation_p.R771K|TET2_ENST00000305737.2_Missense_Mutation_p.R771K|TET2_ENST00000413648.2_Missense_Mutation_p.R771K|TET2_ENST00000380013.4_Missense_Mutation_p.R771K|TET2_ENST00000513237.1_Missense_Mutation_p.R792K|TET2_ENST00000394764.1_Missense_Mutation_p.R771K			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	771	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GATCAGCAAAGAGAAGGATCA	0.383			"""Mis N, F"""		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(2374-2376)aGa>aAa		tet methylcytosine dioxygenase 2							62.0	64.0	63.0					4																	106157411		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106157411G>A	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2312G>A	4.37:g.106157411G>A	ENSP00000442788:p.Arg771Lys					TET2_ENST00000305737.2_Missense_Mutation_p.R771K|TET2_ENST00000545826.1_Missense_Mutation_p.R771K|TET2_ENST00000413648.2_Missense_Mutation_p.R771K|TET2_ENST00000380013.4_Missense_Mutation_p.R771K|TET2_ENST00000394764.1_Missense_Mutation_p.R771K|TET2_ENST00000540549.1_Missense_Mutation_p.R771K	p.R792K			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	3172	+		Myeloproliferative disorder(5;0.0393)	771			Gln-rich.		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.2375G>A	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627510	0.28978	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.03689	3.84;4.5;3.84;4.49;4.5;3.84;3.85	5.91	5.91	0.95273	.	675.323000	0.00166	N	0.000000	T	0.07638	0.0192	N	0.24115	0.695	0.21604	N	0.999624	P;P;D	0.56287	0.842;0.842;0.975	B;B;P	0.53861	0.324;0.324;0.736	T	0.37174	-0.9717	10	0.10902	T	0.67	.	11.5383	0.50651	0.0:0.1173:0.6902:0.1925	.	792;771;771	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	K	771;771;771;792;771;771;771	ENSP00000306705:R771K;ENSP00000442788:R771K;ENSP00000442867:R771K;ENSP00000425443:R792K;ENSP00000369351:R771K;ENSP00000378245:R771K;ENSP00000391448:R771K	ENSP00000265149:R771K	R	+	2	0	TET2	106376860	0.245000	0.23899	1.000000	0.80357	0.968000	0.65278	2.425000	0.44723	2.793000	0.96121	0.655000	0.94253	AGA		0.383	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		3	44	0	0	0	0.009096	0	3	44				
FCGR2A	2212	broad.mit.edu	37	1	161487824	161487824	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:161487824C>T	ENST00000271450.6	+	7	878	c.840C>T	c.(838-840)gaC>gaT	p.D280D	FCGR2A_ENST00000367972.4_Silent_p.D279D|RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000486608.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	280					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAACAATGACTATGAAACAG	0.448																																						ENST00000271450.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(838-840)gaC>gaT		Fc fragment of IgG, low affinity IIa, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						99.0	100.0	100.0					1																	161487824		2203	4300	6503	SO:0001819	synonymous_variant	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161487824C>T	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.840C>T	1.37:g.161487824C>T						FCGR2A_ENST00000461298.1_Silent_p.D15D|FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Silent_p.D279D	p.D280D	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	878	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		280					Q8WUN1|Q8WW64	Silent	SNP	ENST00000271450.6	37	c.840C>T	CCDS44264.1																																																																																				0.448	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		28	15	0	0	0	0.009535	0	28	15				
PIK3C2A	5286	broad.mit.edu	37	11	17122958	17122958	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:17122958G>A	ENST00000265970.7	-	24	3874	c.3875C>T	c.(3874-3876)aCc>aTc	p.T1292I	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.T912I	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1292	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						CATATCAGAGGTCAGCACAAA	0.373																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(3874-3876)aCc>aTc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						79.0	77.0	78.0					11																	17122958		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17122958G>A	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.3875C>T	11.37:g.17122958G>A	ENSP00000265970:p.Thr1292Ile					PIK3C2A_ENST00000540361.1_Missense_Mutation_p.T912I|PIK3C2A_ENST00000531428.1_Intron	p.T1292I	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			24	3874	-			1292			PI3K/PI4K.		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.3875C>T	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889495	0.91889	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	D;D	0.87809	-2.3;-2.3	5.49	5.49	0.81192	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.95082	0.8407	M	0.93420	3.415	0.80722	D	1	D	0.55800	0.973	P	0.62089	0.898	D	0.95780	0.8816	10	0.87932	D	0	-3.6569	19.7288	0.96175	0.0:0.0:1.0:0.0	.	1292	O00443	P3C2A_HUMAN	I	1292;912	ENSP00000265970:T1292I;ENSP00000438687:T912I	ENSP00000265970:T1292I	T	-	2	0	PIK3C2A	17079534	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.768000	0.98965	2.736000	0.93811	0.557000	0.71058	ACC		0.373	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		7	32	0	0	0	0.003080	0	7	32				
LINC00922	283867	broad.mit.edu	37	16	65397170	65397170	+	lincRNA	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:65397170G>C	ENST00000569736.1	-	0	510				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1				long intergenic non-protein coding RNA 922																		ATGGTAAAAAGACCTTCCTCT	0.413																																						ENST00000569736.1																			0																				82.0	79.0	80.0					16																	65397170		1895	4127	6022			283867							g.chr16:65397170G>C	BC037902, BC104446		16q21	2013-05-24			ENSG00000261742	ENSG00000261742		"""Long non-coding RNAs"""	27545	non-coding RNA	RNA, long non-coding							Standard	NR_027755		Approved				OTTHUMG00000172812		16.37:g.65397170G>C						RP11-256I9.3_ENST00000562656.1_lincRNA		NR_027755.1						0	510	-									RNA	SNP	ENST00000569736.1	37																																																																																						0.413	LINC00922-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000420601.2	NR_027755		10	22	0	0	0	0.010729	0	10	22				
MBD5	55777	broad.mit.edu	37	2	149247498	149247498	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:149247498G>A	ENST00000407073.1	+	12	4595	c.3598G>A	c.(3598-3600)Gag>Aag	p.E1200K	MBD5_ENST00000404807.1_Missense_Mutation_p.E1433K	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1200					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.E1200*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GTGGGACGGGGAGCAAAGCCC	0.473																																						ENST00000407073.1																			1	Substitution - Nonsense(1)	p.E1200*(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(3598-3600)Gag>Aag		methyl-CpG binding domain protein 5							103.0	104.0	103.0					2																	149247498		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149247498G>A	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3598G>A	2.37:g.149247498G>A	ENSP00000386049:p.Glu1200Lys					MBD5_ENST00000404807.1_Missense_Mutation_p.E1433K	p.E1200K	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	12	4595	+			1200					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.3598G>A	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915472	0.73098	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.55760	0.56;0.5	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000005	T	0.57607	0.2065	N	0.19112	0.55	0.42971	D	0.994434	D;D	0.58268	0.982;0.965	P;P	0.58013	0.831;0.724	T	0.59300	-0.7480	10	0.54805	T	0.06	-7.9267	20.5182	0.99214	0.0:0.0:1.0:0.0	.	1433;1200	E9PHH0;Q9P267	.;MBD5_HUMAN	K	1200;1433	ENSP00000386049:E1200K;ENSP00000384672:E1433K	ENSP00000384672:E1433K	E	+	1	0	MBD5	148963968	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.760000	0.91671	2.860000	0.98153	0.655000	0.94253	GAG		0.473	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			5	81	0	0	0	0.001168	0	5	81				
AGO1	26523	broad.mit.edu	37	1	36379463	36379463	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:36379463G>A	ENST00000373204.4	+	13	1816	c.1603G>A	c.(1603-1605)Gat>Aat	p.D535N	AGO1_ENST00000373206.1_Missense_Mutation_p.D460N	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	535	Interaction with guide RNA.|Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										ACGTGTCGGAGATACACTCTT	0.478																																						ENST00000373204.4																			0											c.(1603-1605)Gat>Aat		argonaute RISC catalytic component 1							134.0	116.0	122.0					1																	36379463		2203	4300	6503	SO:0001583	missense	26523							g.chr1:36379463G>A	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1603G>A	1.37:g.36379463G>A	ENSP00000362300:p.Asp535Asn					AGO1_ENST00000373206.1_Missense_Mutation_p.D460N	p.D535N	NM_012199.2	NP_036331.1					13	1816	+								Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.1603G>A	CCDS398.1	.	.	.	.	.	.	.	.	.	.	G	35	5.550594	0.96501	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.29397	1.57;1.57	5.65	5.65	0.86999	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.098360	0.64402	D	0.000002	T	0.56426	0.1984	M	0.88640	2.97	0.80722	D	1	D	0.53745	0.962	P	0.52066	0.689	T	0.65693	-0.6106	10	0.87932	D	0	-27.7225	19.7711	0.96366	0.0:0.0:1.0:0.0	.	535	Q9UL18	AGO1_HUMAN	N	460;535	ENSP00000362302:D460N;ENSP00000362300:D535N	ENSP00000362300:D535N	D	+	1	0	EIF2C1	36152050	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	9.869000	0.99810	2.677000	0.91161	0.585000	0.79938	GAT		0.478	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			11	72	0	0	0	0.001368	0	11	72				
MROH9	80133	broad.mit.edu	37	1	170967299	170967299	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:170967299C>G	ENST00000367758.3	+	15	1579	c.1480C>G	c.(1480-1482)Ctc>Gtc	p.L494V	MROH9_ENST00000367759.4_Missense_Mutation_p.L494V	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	494																	TTACAGAACTCTCAGTGAATA	0.398																																						ENST00000367759.4																			0											c.(1480-1482)Ctc>Gtc		maestro heat-like repeat family member 9							87.0	79.0	81.0					1																	170967299		1821	4073	5894	SO:0001583	missense	80133							g.chr1:170967299C>G	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1480C>G	1.37:g.170967299C>G	ENSP00000356732:p.Leu494Val					MROH9_ENST00000367758.3_Missense_Mutation_p.L494V	p.L494V	NM_001163629.1	NP_001157101.1					15	1634	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.1480C>G	CCDS41436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.43|16.43	3.121798|3.121798	0.56613|0.56613	.|.	.|.	ENSG00000117501|ENSG00000117501	ENST00000367759;ENST00000367758|ENST00000426136	T;T|.	0.21361|.	3.5;2.01|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.000000|.	0.52532|.	D|.	0.000076|.	T|T	0.58921|0.58921	0.2156|0.2156	M|M	0.67953|0.67953	2.075|2.075	0.34764|0.34764	D|D	0.733048|0.733048	D;D|.	0.89917|.	0.995;1.0|.	P;D|.	0.85130|.	0.851;0.997|.	T|T	0.61758|0.61758	-0.6997|-0.6997	10|5	0.72032|.	D|.	0.01|.	-15.927|-15.927	14.1917|14.1917	0.65641|0.65641	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	494;494|.	F5GWX6;Q5TGP6|.	.;CA129_HUMAN|.	V|C	494|100	ENSP00000356733:L494V;ENSP00000356732:L494V|.	ENSP00000356732:L494V|.	L|S	+|+	1|2	0|0	C1orf129|C1orf129	169233923|169233923	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.653000|0.653000	0.38743|0.38743	3.435000|3.435000	0.52849|0.52849	2.483000|2.483000	0.83821|0.83821	0.447000|0.447000	0.29281|0.29281	CTC|TCT		0.398	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		37	32	0	0	0	0.004289	0	37	32				
RAPGEF3	10411	broad.mit.edu	37	12	48143226	48143226	+	Missense_Mutation	SNP	C	C	T	rs201965876		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:48143226C>T	ENST00000449771.2	-	10	1076	c.988G>A	c.(988-990)Gac>Aac	p.D330N	RAPGEF3_ENST00000395358.3_Missense_Mutation_p.D330N|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.D288N|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.D288N|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.D288N|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.D330N|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.D288N			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	330				D -> Y (in Ref. 1; AAD12740/AAD02890). {ECO:0000305}.	angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TGACAGTTGTCTTCTCGCAGG	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12289	0.0		0.0	False		,,,				2504	0.0					ENST00000405493.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25						c.(862-864)Gac>Aac		Rap guanine nucleotide exchange factor (GEF) 3							119.0	107.0	111.0					12																	48143226		2203	4300	6503	SO:0001583	missense	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48143226C>T	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.988G>A	12.37:g.48143226C>T	ENSP00000395708:p.Asp330Asn					RAPGEF3_ENST00000395358.3_Missense_Mutation_p.D330N|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.D330N|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.D288N|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.D288N|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.D330N|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.D288N	p.D288N	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	10	1071	-	Lung SC(27;0.192)		288					A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	c.862G>A	CCDS41775.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.69	2.611692	0.46631	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	D;D;D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11	4.28	3.38	0.38709	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.052986	0.64402	N	0.000001	D	0.86460	0.5938	L	0.39397	1.21	0.80722	D	1	B;B;B	0.18310	0.002;0.027;0.013	B;B;B	0.17098	0.017;0.011;0.015	T	0.80317	-0.1433	10	0.24483	T	0.36	.	10.385	0.44134	0.0:0.9004:0.0:0.0996	.	342;330;330	B7Z5J6;O95398-2;O95398	.;.;RPGF3_HUMAN	N	288;330;288;288;288;330;342;288;330	ENSP00000384521:D288N;ENSP00000395708:D330N;ENSP00000448619:D288N;ENSP00000171000:D288N;ENSP00000373864:D330N;ENSP00000448480:D288N;ENSP00000378764:D330N	ENSP00000171000:D288N	D	-	1	0	RAPGEF3	46429493	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.517000	0.67061	1.137000	0.42214	0.650000	0.86243	GAC		0.582	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		6	50	0	0	0	0.001984	0	6	50				
SSH2	85464	broad.mit.edu	37	17	27963169	27963169	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:27963169G>A	ENST00000269033.3	-	14	2149	c.1998C>T	c.(1996-1998)acC>acT	p.T666T	SSH2_ENST00000540801.1_Silent_p.T693T|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	666					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCGTGACCGGGTTTCTTGGG	0.493																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1996-1998)acC>acT		slingshot protein phosphatase 2							102.0	103.0	103.0					17																	27963169		2203	4300	6503	SO:0001819	synonymous_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27963169G>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1998C>T	17.37:g.27963169G>A						SSH2_ENST00000540801.1_Silent_p.T693T|RP11-68I3.2_ENST00000581474.1_RNA	p.T666T	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			14	2149	-			666					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	ENST00000269033.3	37	c.1998C>T	CCDS11253.1																																																																																				0.493	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		42	54	0	0	0	0.006999	0	42	54				
STXBP5L	9515	broad.mit.edu	37	3	120998727	120998727	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:120998727C>T	ENST00000273666.6	+	19	2305	c.2034C>T	c.(2032-2034)acC>acT	p.T678T	STXBP5L_ENST00000492541.1_Silent_p.T678T|STXBP5L_ENST00000472879.1_Silent_p.T678T|STXBP5L_ENST00000471454.1_Silent_p.T678T|STXBP5L_ENST00000497029.1_Silent_p.T678T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	678					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GCATGGGGACCATTGACCTAT	0.398																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2032-2034)acC>acT		syntaxin binding protein 5-like							164.0	152.0	156.0					3																	120998727		1885	4125	6010	SO:0001819	synonymous_variant	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120998727C>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2034C>T	3.37:g.120998727C>T						STXBP5L_ENST00000492541.1_Silent_p.T678T|STXBP5L_ENST00000497029.1_Silent_p.T678T|STXBP5L_ENST00000471454.1_Silent_p.T678T|STXBP5L_ENST00000472879.1_Silent_p.T678T	p.T678T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	19	2305	+			678					Q4G1B4|Q6PIC3	Silent	SNP	ENST00000273666.6	37	c.2034C>T	CCDS43137.1																																																																																				0.398	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			42	55	0	0	0	0.007835	0	42	55				
HUS1	3364	broad.mit.edu	37	7	48007409	48007409	+	Missense_Mutation	SNP	A	A	C	rs79656108		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:48007409A>C	ENST00000258774.5	-	7	777	c.754T>G	c.(754-756)Tta>Gta	p.L252V	HUS1_ENST00000432325.1_Missense_Mutation_p.L231V	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	252					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				TCACTGCATAAGGCCTTTGTG	0.388								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)	ENST00000258774.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13						c.(754-756)Tta>Gta	Direct reversal of damage;Other conserved DNA damage response genes	HUS1 checkpoint homolog (S. pombe)							172.0	151.0	158.0					7																	48007409		2203	4300	6503	SO:0001583	missense	3364				DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding	g.chr7:48007409A>C	Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"""hus1+-like protein"""	603760	"""HUS1 (S. pombe) checkpoint homolog"""			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.754T>G	7.37:g.48007409A>C	ENSP00000258774:p.Leu252Val					HUS1_ENST00000432325.1_Missense_Mutation_p.L231V	p.L252V	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN			7	777	-		Breast(660;0.00139)	252					B4DFI9	Missense_Mutation	SNP	ENST00000258774.5	37	c.754T>G	CCDS34635.1	.	.	.	.	.	.	.	.	.	.	A	1.847	-0.465959	0.04476	.	.	ENSG00000136273	ENST00000258774;ENST00000432325	T;T	0.09255	3.0;3.0	5.23	-1.73	0.08081	.	0.580848	0.18184	N	0.149039	T	0.03095	0.0091	N	0.05414	-0.055	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.39354	-0.9618	10	0.08179	T	0.78	-12.3878	1.6637	0.02797	0.2532:0.3476:0.0827:0.3166	.	252	O60921	HUS1_HUMAN	V	252;231	ENSP00000258774:L252V;ENSP00000416588:L231V	ENSP00000258774:L252V	L	-	1	2	HUS1	47973934	0.021000	0.18746	0.001000	0.08648	0.495000	0.33615	0.258000	0.18387	-0.478000	0.06823	0.528000	0.53228	TTA		0.388	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507		23	40	0	0	0	0.004656	0	23	40				
ATXN2L	11273	broad.mit.edu	37	16	28847379	28847379	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:28847379G>A	ENST00000336783.4	+	22	3188	c.3021G>A	c.(3019-3021)caG>caA	p.Q1007Q	ATXN2L_ENST00000395547.2_Silent_p.Q1007Q|ATXN2L_ENST00000564304.1_Silent_p.Q1013Q|ATXN2L_ENST00000340394.8_Silent_p.Q1007Q|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Silent_p.Q1007Q|ATXN2L_ENST00000382686.4_Silent_p.Q1007Q|ATXN2L_ENST00000570200.1_Silent_p.Q1007Q	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1007					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CGGTGCCCCAGAGTGGGGTGC	0.706																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(3019-3021)caG>caA		ataxin 2-like							35.0	44.0	41.0					16																	28847379		2192	4293	6485	SO:0001819	synonymous_variant	11273					membrane		g.chr16:28847379G>A		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.3021G>A	16.37:g.28847379G>A						ATXN2L_ENST00000325215.6_Silent_p.Q1007Q|ATXN2L_ENST00000570200.1_Silent_p.Q1007Q|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Silent_p.Q1007Q|ATXN2L_ENST00000564304.1_Silent_p.Q1013Q|ATXN2L_ENST00000382686.4_Silent_p.Q1007Q|ATXN2L_ENST00000395547.2_Silent_p.Q1007Q	p.Q1007Q	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			22	3188	+			1007					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	ENST00000336783.4	37	c.3021G>A	CCDS10641.1																																																																																				0.706	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		23	91	0	0	0	0.012319	0	23	91				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	33	0	0	0	0.001984	0	6	33				
ALYREF	10189	broad.mit.edu	37	17	79846187	79846187	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:79846187G>A	ENST00000331204.4	-	5	715	c.689C>T	c.(688-690)gCc>gTc	p.A230V	ALYREF_ENST00000505490.2_Missense_Mutation_p.A237V|ANAPC11_ENST00000571570.1_5'Flank|ALYREF_ENST00000512673.1_5'Flank	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	230	Ala/Arg/Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|replication fork processing (GO:0031297)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral mRNA export from host cell nucleus (GO:0046784)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|transcription export complex (GO:0000346)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)										ATTCCTGCCGGCACCTCTGCC	0.647																																						ENST00000331204.4																			0											c.(688-690)gCc>gTc		Aly/REF export factor							28.0	30.0	30.0					17																	79846187		2203	4300	6503	SO:0001583	missense	10189				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding	g.chr17:79846187G>A	AF047002	CCDS32768.1, CCDS32768.2	17q25.3	2013-02-12	2011-12-12	2011-12-12	ENSG00000183684	ENSG00000183684		"""THO complex subunits"", ""RNA binding motif (RRM) containing"""	19071	protein-coding gene	gene with protein product		604171	"""THO complex 4"""	THOC4		11032328	Standard	NM_005782		Approved	ALY, BEF, ALY/REF, REF	uc002kbu.2	Q86V81	OTTHUMG00000160470	ENST00000331204.4:c.689C>T	17.37:g.79846187G>A	ENSP00000331817:p.Ala230Val					ALYREF_ENST00000505490.2_Missense_Mutation_p.A237V	p.A230V	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN			5	715	-			230			Ala/Arg/Gly-rich.		O43672	Missense_Mutation	SNP	ENST00000331204.4	37	c.689C>T		.	.	.	.	.	.	.	.	.	.	G	12.78	2.040341	0.35989	.	.	ENSG00000183684	ENST00000331204;ENST00000505490	D;D	0.82893	-1.66;-1.66	5.43	4.46	0.54185	.	0.321942	0.33691	N	0.004658	T	0.78616	0.4311	L	0.59436	1.845	0.09310	N	1	P	0.36282	0.546	B	0.33960	0.173	T	0.68383	-0.5423	10	0.27785	T	0.31	.	14.0509	0.64736	0.0721:0.0:0.9279:0.0	.	237	E9PB61	.	V	230;237	ENSP00000331817:A230V;ENSP00000421592:A237V	ENSP00000331817:A230V	A	-	2	0	THOC4	77439483	0.881000	0.30235	0.257000	0.24404	0.508000	0.34012	5.073000	0.64395	1.523000	0.49018	0.655000	0.94253	GCC		0.647	ALYREF-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005782		16	14	0	0	0	0.004007	0	16	14				
CEP44	80817	broad.mit.edu	37	4	175229984	175229984	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:175229984G>A	ENST00000503780.1	+	7	1066	c.652G>A	c.(652-654)Gtt>Att	p.V218I	CEP44_ENST00000426172.1_Missense_Mutation_p.V218I|CEP44_ENST00000296519.4_Missense_Mutation_p.V218I|CEP44_ENST00000457424.2_Missense_Mutation_p.V218I	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	218						centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922)				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						TGAAGTAAAGGTTCCTGAAAT	0.328																																						ENST00000503780.1																			0				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						c.(652-654)Gtt>Att		centrosomal protein 44kDa							93.0	92.0	92.0					4																	175229984		2203	4299	6502	SO:0001583	missense	80817					centrosome|midbody|spindle pole		g.chr4:175229984G>A	AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118			29356	protein-coding gene	gene with protein product			"""KIAA1712"""	KIAA1712		21399614	Standard	NM_001040157		Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.652G>A	4.37:g.175229984G>A	ENSP00000423153:p.Val218Ile					CEP44_ENST00000296519.4_Missense_Mutation_p.V218I|CEP44_ENST00000457424.2_Missense_Mutation_p.V218I|CEP44_ENST00000426172.1_Missense_Mutation_p.V218I	p.V218I	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN			7	1066	+			218					A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	Missense_Mutation	SNP	ENST00000503780.1	37	c.652G>A	CCDS34106.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556411	0.27827	.	.	ENSG00000164118	ENST00000503780;ENST00000457424;ENST00000426172;ENST00000296519	T;T;T;T	0.46063	0.91;0.88;0.88;0.91	5.34	0.431	0.16523	.	1.077570	0.07122	N	0.844091	T	0.29389	0.0732	L	0.51422	1.61	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.003	T	0.26087	-1.0113	10	0.09084	T	0.74	.	1.899	0.03264	0.2392:0.1363:0.4843:0.1403	.	218;218	Q9C0F1-2;Q9C0F1	.;CEP44_HUMAN	I	218	ENSP00000423153:V218I;ENSP00000389427:V218I;ENSP00000408221:V218I;ENSP00000296519:V218I	ENSP00000296519:V218I	V	+	1	0	CEP44	175466559	0.002000	0.14202	0.000000	0.03702	0.227000	0.25037	0.085000	0.14912	-0.076000	0.12775	0.650000	0.86243	GTT		0.328	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362109.2	NM_030633		4	27	0	0	0	0.009096	0	4	27				
GOLGA2	2801	broad.mit.edu	37	9	131022757	131022757	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:131022757C>G	ENST00000421699.2	-	17	1676	c.1664G>C	c.(1663-1665)gGa>gCa	p.G555A	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Missense_Mutation_p.G543A	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	555					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CTTTACAAATCCGCTCTGCAG	0.612																																						ENST00000421699.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(1663-1665)gGa>gCa		golgin A2							49.0	51.0	51.0					9																	131022757		2203	4300	6503	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131022757C>G	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1664G>C	9.37:g.131022757C>G	ENSP00000416097:p.Gly555Ala						p.G555A	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			17	1676	-			555					Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.1664G>C	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	c	19.79	3.893659	0.72639	.	.	ENSG00000167110	ENST00000421699	T	0.48522	0.81	5.12	5.12	0.69794	.	0.050140	0.85682	D	0.000000	T	0.64713	0.2623	M	0.67700	2.07	0.58432	D	0.999999	D	0.71674	0.998	D	0.71184	0.972	T	0.59532	-0.7437	10	0.12103	T	0.63	.	18.5604	0.91098	0.0:1.0:0.0:0.0	.	555	Q08379	GOGA2_HUMAN	A	555	ENSP00000416097:G555A	ENSP00000416097:G555A	G	-	2	0	GOLGA2	130062578	1.000000	0.71417	0.073000	0.20177	0.621000	0.37620	7.487000	0.81328	2.379000	0.81126	0.305000	0.20034	GGA		0.612	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		12	57	0	0	0	0.010729	0	12	57				
TSSK2	23617	broad.mit.edu	37	22	19118919	19118919	+	Missense_Mutation	SNP	G	G	A	rs374546658		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:19118919G>A	ENST00000399635.2	+	1	599	c.7G>A	c.(7-9)Gat>Aat	p.D3N	DGCR14_ENST00000252137.6_3'UTR|AC004471.10_ENST00000609936.1_lincRNA	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	3					multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CACCATGGACGATGCCACAGT	0.562																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(7-9)Gat>Aat		testis-specific serine kinase 2		G	,ASN/ASP	0,4406		0,0,2203	58.0	47.0	51.0		,7	5.2	1.0	22		51	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,missense	DGCR14,TSSK2	NM_022719.2,NM_053006.4	,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,probably-damaging	,3/359	19118919	1,13005	2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19118919G>A	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.7G>A	22.37:g.19118919G>A	ENSP00000382544:p.Asp3Asn					DGCR14_ENST00000252137.6_3'UTR	p.D3N	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	599	+	Colorectal(54;0.0993)		3					Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.7G>A	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839711	0.71488	0.0	1.16E-4	ENSG00000206203	ENST00000399635	T	0.70749	-0.51	5.22	5.22	0.72569	.	0.000000	0.50627	D	0.000115	T	0.67059	0.2853	L	0.46157	1.445	0.35335	D	0.78593	D	0.61697	0.99	B	0.43623	0.425	T	0.78889	-0.2026	10	0.72032	D	0.01	.	15.7169	0.77674	0.0:0.0:1.0:0.0	.	3	Q96PF2	TSSK2_HUMAN	N	3	ENSP00000382544:D3N	ENSP00000382544:D3N	D	+	1	0	TSSK2	17498919	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	4.552000	0.60747	2.442000	0.82660	0.467000	0.42956	GAT		0.562	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			6	13	0	0	0	0.001984	0	6	13				
TOX3	27324	broad.mit.edu	37	16	52473778	52473778	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:52473778G>A	ENST00000219746.9	-	7	1374	c.1090C>T	c.(1090-1092)Caa>Taa	p.Q364*	TOX3_ENST00000407228.3_Nonsense_Mutation_p.Q359*	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	364					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GTTCCATGTTGAGACAGTGGA	0.527																																						ENST00000219746.9																			0				NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						c.(1090-1092)Caa>Taa		TOX high mobility group box family member 3							220.0	219.0	219.0					16																	52473778		2101	4230	6331	SO:0001587	stop_gained	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52473778G>A	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.1090C>T	16.37:g.52473778G>A	ENSP00000219746:p.Gln364*					TOX3_ENST00000407228.3_Nonsense_Mutation_p.Q359*	p.Q364*	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN			7	1374	-			364					B4DRD0|B5MCW4	Nonsense_Mutation	SNP	ENST00000219746.9	37	c.1090C>T	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	G	36	5.816307	0.96982	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	.	.	.	5.75	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	14.691	0.69085	0.0697:0.0:0.9303:0.0	.	.	.	.	X	364;359	.	ENSP00000219746:Q364X	Q	-	1	0	TOX3	51031279	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.230000	0.95299	1.411000	0.46957	0.655000	0.94253	CAA		0.527	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		12	75	0	0	0	0.010729	0	12	75				
ZNF251	90987	broad.mit.edu	37	8	145948557	145948557	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:145948557C>G	ENST00000292562.7	-	5	763	c.488G>C	c.(487-489)aGa>aCa	p.R163T	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	163					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)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TGTTAAAACTCTCTTGTGAAT	0.478																																						ENST00000292562.7																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17						c.(487-489)aGa>aCa		zinc finger protein 251							86.0	86.0	86.0					8																	145948557		1822	4076	5898	SO:0001583	missense	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145948557C>G	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.488G>C	8.37:g.145948557C>G	ENSP00000292562:p.Arg163Thr					ZNF251_ENST00000524394.1_Intron	p.R163T	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	763	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		163					Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	c.488G>C	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	C	9.473	1.096158	0.20552	.	.	ENSG00000198169	ENST00000292562	T	0.07114	3.22	3.04	-1.79	0.07932	.	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	B	0.23058	0.079	B	0.18871	0.023	T	0.41520	-0.9504	9	0.38643	T	0.18	.	4.8734	0.13644	0.0:0.5248:0.1569:0.3183	.	163	Q9BRH9	ZN251_HUMAN	T	163	ENSP00000292562:R163T	ENSP00000292562:R163T	R	-	2	0	ZNF251	145919366	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.104000	0.15313	-0.644000	0.05465	0.563000	0.77884	AGA		0.478	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		26	87	0	0	0	0.003954	0	26	87				
AMY2B	280	broad.mit.edu	37	1	104115729	104115729	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:104115729T>A	ENST00000361355.4	+	5	976	c.360T>A	c.(358-360)aaT>aaA	p.N120K	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	120					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TGTCTGGTAATGCTGTGAGTG	0.408																																						ENST00000361355.4																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(358-360)aaT>aaA		amylase, alpha 2B (pancreatic)							376.0	374.0	375.0					1																	104115729		2203	4297	6500	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104115729T>A	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.360T>A	1.37:g.104115729T>A	ENSP00000354610:p.Asn120Lys					AMY2B_ENST00000491397.1_3'UTR	p.N120K	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	5	976	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	120					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.360T>A	CCDS782.1	.	.	.	.	.	.	.	.	.	.	T	4.822	0.152786	0.09185	.	.	ENSG00000240038	ENST00000361355	D	0.98249	-4.82	4.58	-9.16	0.00694	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	1.225490	0.05804	N	0.612851	D	0.90765	0.7101	L	0.58510	1.815	0.09310	N	1	B	0.17038	0.02	B	0.19148	0.024	T	0.81346	-0.0974	10	0.72032	D	0.01	.	1.1702	0.01823	0.1922:0.3137:0.1993:0.2947	.	120	P19961	AMY2B_HUMAN	K	120	ENSP00000354610:N120K	ENSP00000354610:N120K	N	+	3	2	AMY2B	103917252	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.999000	0.01467	-2.044000	0.00911	-0.262000	0.10625	AAT		0.408	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		139	141	0	0	0	0.003610	0	139	141				
ENY2	56943	broad.mit.edu	37	8	110355642	110355642	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:110355642C>T	ENST00000521662.1	+	5	311	c.223C>T	c.(223-225)Cct>Tct	p.P75S	ENY2_ENST00000520147.1_3'UTR|ENY2_ENST00000521688.1_Missense_Mutation_p.P80S|ENY2_ENST00000522407.1_3'UTR					enhancer of yellow 2 homolog (Drosophila)											endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			AGCCCTGGTACCTGACAGTGT	0.343																																						ENST00000521688.1																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(238-240)Cct>Tct		enhancer of yellow 2 homolog (Drosophila)							140.0	135.0	137.0					8																	110355642		1829	4075	5904	SO:0001583	missense	56943				histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity	g.chr8:110355642C>T		CCDS43762.1, CCDS55270.1	8q23.1	2005-08-16			ENSG00000120533	ENSG00000120533			24449	protein-coding gene	gene with protein product						11438676	Standard	NM_020189		Approved	DC6, FLJ20480	uc003ynd.3	Q9NPA8	OTTHUMG00000164933	ENST00000521662.1:c.223C>T	8.37:g.110355642C>T	ENSP00000429713:p.Pro75Ser					ENY2_ENST00000522407.1_3'UTR|ENY2_ENST00000520147.1_3'UTR|ENY2_ENST00000521662.1_Missense_Mutation_p.P75S	p.P80S	NM_001193557.1|NM_020189.5	NP_001180486.1|NP_064574.1	Q9NPA8	ENY2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)		5	383	+	all_neural(195;0.219)		80						Missense_Mutation	SNP	ENST00000521662.1	37	c.238C>T	CCDS55270.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236279	0.79800	.	.	ENSG00000120533	ENST00000521662;ENST00000521688	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.83667	0.5304	M	0.82630	2.6	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	D	0.83552	0.0102	9	0.49607	T	0.09	-4.1912	18.9386	0.92597	0.0:1.0:0.0:0.0	.	80	Q9NPA8	ENY2_HUMAN	S	75;80	.	ENSP00000429713:P75S	P	+	1	0	ENY2	110424818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.646000	0.74348	2.817000	0.96982	0.563000	0.77884	CCT		0.343	ENY2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381002.1	NM_020189		49	53	0	0	0	0.003610	0	49	53				
MARCH11	441061	broad.mit.edu	37	5	16177895	16177895	+	Silent	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:16177895G>T	ENST00000332432.8	-	2	832	c.633C>A	c.(631-633)acC>acA	p.T211T	RP11-19O2.2_ENST00000509037.1_RNA|MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	211					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AAAGTTCACAGGTCCAGGAAC	0.408																																						ENST00000332432.8																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						c.(631-633)acC>acA		membrane-associated ring finger (C3HC4) 11							98.0	98.0	98.0					5																	16177895		1914	4132	6046	SO:0001819	synonymous_variant	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16177895G>T	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.633C>A	5.37:g.16177895G>T						MARCH11_ENST00000505509.1_5'UTR	p.T211T	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN			2	832	-			211					A7E2S6	Silent	SNP	ENST00000332432.8	37	c.633C>A	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	G	8.509	0.866094	0.17250	.	.	ENSG00000183654	ENST00000507111	.	.	.	5.68	1.83	0.25207	.	.	.	.	.	T	0.54382	0.1855	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41520	-0.9504	4	.	.	.	-10.2293	6.8147	0.23824	0.2006:0.0:0.6744:0.125	.	.	.	.	H	15	.	.	P	-	2	0	MARCH11	16230895	1.000000	0.71417	0.984000	0.44739	0.994000	0.84299	2.838000	0.48199	0.054000	0.16065	0.655000	0.94253	CCT		0.408	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562		7	42	1	0	2.0095e-06	0.001984	2.22601e-06	7	42				
TBC1D8B	54885	broad.mit.edu	37	X	106097447	106097447	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chrX:106097447A>G	ENST00000357242.5	+	14	2447	c.2273A>G	c.(2272-2274)tAt>tGt	p.Y758C	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y752C	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	758							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATATTCGCTATGAAGATATA	0.353																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2272-2274)tAt>tGt		TBC1 domain family, member 8B (with GRAM domain)							87.0	70.0	76.0					X																	106097447		2203	4298	6501	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106097447A>G	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2273A>G	X.37:g.106097447A>G	ENSP00000349781:p.Tyr758Cys					TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y752C	p.Y758C	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN			14	2447	+			758					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.2273A>G	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	A	6.373	0.436916	0.12104	.	.	ENSG00000133138	ENST00000357242;ENST00000276175	T;T	0.08008	3.15;3.14	4.67	0.734	0.18294	.	0.832738	0.10675	N	0.647097	T	0.09468	0.0233	L	0.60455	1.87	0.31254	N	0.69368	B	0.13594	0.008	B	0.09377	0.004	T	0.12400	-1.0549	10	0.42905	T	0.14	0.7095	7.5187	0.27616	0.6977:0.0:0.3023:0.0	.	758	Q0IIM8	TBC8B_HUMAN	C	758;752	ENSP00000349781:Y758C;ENSP00000276175:Y752C	ENSP00000276175:Y752C	Y	+	2	0	TBC1D8B	105984103	0.441000	0.25626	0.910000	0.35882	0.502000	0.33828	0.363000	0.20301	-0.154000	0.11118	-0.383000	0.06682	TAT		0.353	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		25	6	0	0	0	0.005443	0	25	6				
COL6A6	131873	broad.mit.edu	37	3	130289961	130289961	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:130289961G>A	ENST00000358511.6	+	6	2732	c.2701G>A	c.(2701-2703)Gaa>Aaa	p.E901K	COL6A6_ENST00000453409.2_Missense_Mutation_p.E901K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	901	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CATGTTCACTGAAGCCCGGGG	0.532																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2701-2703)Gaa>Aaa		collagen, type VI, alpha 6							40.0	42.0	42.0					3																	130289961		1885	4094	5979	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130289961G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2701G>A	3.37:g.130289961G>A	ENSP00000351310:p.Glu901Lys					COL6A6_ENST00000453409.2_Missense_Mutation_p.E901K	p.E901K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			6	2732	+			901			Nonhelical region.|VWFA 5.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2701G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799027	0.90538	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.83250	-1.7;-1.7	4.92	4.92	0.64577	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000014	D	0.87684	0.6239	L	0.51914	1.62	0.47214	D	0.999359	D	0.71674	0.998	D	0.71870	0.975	D	0.84038	0.0363	10	0.17832	T	0.49	.	18.0758	0.89426	0.0:0.0:1.0:0.0	.	901	A6NMZ7	CO6A6_HUMAN	K	901	ENSP00000351310:E901K;ENSP00000399236:E901K	ENSP00000351310:E901K	E	+	1	0	COL6A6	131772651	0.961000	0.32948	0.943000	0.38184	0.979000	0.70002	2.512000	0.45485	2.460000	0.83146	0.561000	0.74099	GAA		0.532	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		10	18	0	0	0	0.006214	0	10	18				
CLCN7	1186	broad.mit.edu	37	16	1498432	1498432	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:1498432A>T	ENST00000382745.4	-	21	2542	c.1937T>A	c.(1936-1938)gTc>gAc	p.V646D	CLCN7_ENST00000448525.1_Missense_Mutation_p.V622D|LA16c-390E6.5_ENST00000566287.1_RNA|CLCN7_ENST00000262318.8_Missense_Mutation_p.V622D	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	646	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GTCCACAATGACGCCGACCTT	0.652																																						ENST00000382745.4																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.(1936-1938)gTc>gAc		chloride channel, voltage-sensitive 7							86.0	63.0	71.0					16																	1498432		2196	4300	6496	SO:0001583	missense	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1498432A>T	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1937T>A	16.37:g.1498432A>T	ENSP00000372193:p.Val646Asp					CLCN7_ENST00000448525.1_Missense_Mutation_p.V622D|CLCN7_ENST00000262318.8_Missense_Mutation_p.V622D	p.V646D	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN			21	2542	-		Hepatocellular(780;0.0893)	646			CBS 1.		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.1937T>A	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	A	3.548	-0.092195	0.07053	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.91945	-2.94;-2.94	5.18	4.09	0.47781	Cystathionine beta-synthase, core (3);	0.484243	0.25001	N	0.033914	T	0.77018	0.4069	N	0.03177	-0.4	0.40675	D	0.982255	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.002;0.002;0.004;0.003	T	0.67209	-0.5728	10	0.06757	T	0.87	-33.1286	8.0563	0.30606	0.8307:0.0:0.1693:0.0	.	622;622;646;95	A8K7X1;E9PDB9;P51798;B3KUD9	.;.;CLCN7_HUMAN;.	D	622;599;646;588	ENSP00000410907:V622D;ENSP00000372193:V646D	ENSP00000262318:V599D	V	-	2	0	CLCN7	1438433	0.423000	0.25482	0.863000	0.33907	0.112000	0.19704	2.012000	0.40932	0.815000	0.34398	0.402000	0.26972	GTC		0.652	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		12	24	0	0	0	0.001368	0	12	24				
TMTC1	83857	broad.mit.edu	37	12	29689237	29689237	+	Missense_Mutation	SNP	T	T	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:29689237T>G	ENST00000539277.1	-	11	1748	c.1690A>C	c.(1690-1692)Aag>Cag	p.K564Q	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000256062.5_Missense_Mutation_p.K456Q|TMTC1_ENST00000551659.1_Missense_Mutation_p.K626Q|TMTC1_ENST00000552618.1_Missense_Mutation_p.K588Q|TMTC1_ENST00000381224.2_Missense_Mutation_p.K518Q	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	564						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GCTTCTTCCTTTTTCTCCTGG	0.378																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1366-1368)Aag>Cag		transmembrane and tetratricopeptide repeat containing 1							144.0	138.0	140.0					12																	29689237		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29689237T>G		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1690A>C	12.37:g.29689237T>G	ENSP00000442046:p.Lys564Gln					TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Missense_Mutation_p.K518Q|TMTC1_ENST00000552618.1_Missense_Mutation_p.K588Q|TMTC1_ENST00000551659.1_Missense_Mutation_p.K626Q|TMTC1_ENST00000539277.1_Missense_Mutation_p.K564Q	p.K456Q	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			11	1839	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		564					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.1366A>C	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.333475	0.24167	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.63255	-0.03;0.65;0.26;0.65;-0.03	5.69	4.52	0.55395	Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);Tetratricopeptide repeat-containing (1);	0.189817	0.48286	D	0.000199	T	0.47857	0.1468	L	0.35414	1.06	0.25256	N	0.989632	P;P;B	0.37594	0.546;0.601;0.355	B;B;B	0.35470	0.148;0.116;0.203	T	0.33163	-0.9879	9	.	.	.	-9.8199	10.4557	0.44548	0.0:0.0:0.1636:0.8364	.	518;564;626	Q8IUR5-3;Q8IUR5;F8VTQ9	.;TMTC1_HUMAN;.	Q	327;456;626;588;564;518	ENSP00000256062:K456Q;ENSP00000448112:K626Q;ENSP00000449043:K588Q;ENSP00000442046:K564Q;ENSP00000370622:K518Q	.	K	-	1	0	TMTC1	29580504	1.000000	0.71417	0.667000	0.29798	0.995000	0.86356	3.171000	0.50824	0.942000	0.37525	0.533000	0.62120	AAG		0.378	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		38	52	0	0	0	0.005524	0	38	52				
CCDC181	57821	broad.mit.edu	37	1	169364286	169364286	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:169364286C>T	ENST00000367806.3	-	6	1681	c.1529G>A	c.(1528-1530)tGa>tAa	p.*510*	CCDC181_ENST00000367805.3_Silent_p.*509*|CCDC181_ENST00000545005.1_Silent_p.*509*|BLZF1_ENST00000329281.2_Intron	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	0						nucleus (GO:0005634)											TAGAAACTTTCAGTTATAATG	0.348																																						ENST00000545005.1																			0											c.(1525-1527)tGa>tAa		coiled-coil domain containing 181							68.0	67.0	67.0					1																	169364286		2203	4300	6503	SO:0001819	synonymous_variant	57821							g.chr1:169364286C>T	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1529G>A	1.37:g.169364286C>T						CCDC181_ENST00000367806.3_Silent_p.*510*|CCDC181_ENST00000367805.3_Silent_p.*509*|BLZF1_ENST00000329281.2_Intron	p.*509*							7	2033	-								O60780|Q53FD5|Q5TID9|Q8TC48	Silent	SNP	ENST00000367806.3	37	c.1526G>A																																																																																					0.348	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		15	25	0	0	0	0.004990	0	15	25				
TAB2	23118	broad.mit.edu	37	6	149700391	149700391	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:149700391C>T	ENST00000367456.1	+	4	1917	c.1340C>T	c.(1339-1341)tCt>tTt	p.S447F	TAB2_ENST00000392282.1_Missense_Mutation_p.S447F|TAB2_ENST00000286332.5_Missense_Mutation_p.S447F|TAB2_ENST00000536230.1_Missense_Mutation_p.S415F|TAB2_ENST00000538427.1_Missense_Mutation_p.S447F			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	447					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GGCAATAACTCTGCAACCTCT	0.502																																						ENST00000367456.1																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						c.(1339-1341)tCt>tTt		TGF-beta activated kinase 1/MAP3K7 binding protein 2							122.0	117.0	119.0					6																	149700391		2203	4300	6503	SO:0001583	missense	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149700391C>T	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1340C>T	6.37:g.149700391C>T	ENSP00000356426:p.Ser447Phe					TAB2_ENST00000538427.1_Missense_Mutation_p.S447F|TAB2_ENST00000286332.5_Missense_Mutation_p.S447F|TAB2_ENST00000392282.1_Missense_Mutation_p.S447F|TAB2_ENST00000536230.1_Missense_Mutation_p.S415F	p.S447F			Q9NYJ8	TAB2_HUMAN			4	1917	+			447					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	c.1340C>T	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569283	0.45798	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.51	5.51	0.81932	.	0.122142	0.53938	D	0.000047	T	0.17066	0.0410	L	0.29908	0.895	0.58432	D	0.999993	B;B	0.26258	0.145;0.145	B;B	0.34180	0.177;0.085	T	0.05632	-1.0873	10	0.72032	D	0.01	-11.9274	19.614	0.95622	0.0:1.0:0.0:0.0	.	415;447	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	F	415;447;447;447;447	ENSP00000443206:S415F;ENSP00000376106:S447F;ENSP00000445752:S447F;ENSP00000356426:S447F;ENSP00000286332:S447F	ENSP00000286332:S447F	S	+	2	0	TAB2	149742084	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.127000	0.77210	2.873000	0.98535	0.561000	0.74099	TCT		0.502	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			22	60	0	0	0	0.012319	0	22	60				
C6	729	broad.mit.edu	37	5	41153999	41153999	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:41153999C>T	ENST00000263413.3	-	15	2467	c.2203G>A	c.(2203-2205)Ggc>Agc	p.G735S	C6_ENST00000337836.5_Missense_Mutation_p.G735S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	735	C5b-binding domain.|CCP 2.|Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACAACAAAGCCTTTGGGGCAA	0.473																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(2203-2205)Ggc>Agc		complement component 6							122.0	106.0	111.0					5																	41153999		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41153999C>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2203G>A	5.37:g.41153999C>T	ENSP00000263413:p.Gly735Ser					C6_ENST00000337836.5_Missense_Mutation_p.G735S	p.G735S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			15	2467	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	735			C5b-binding domain.|Sushi 2.			Missense_Mutation	SNP	ENST00000263413.3	37	c.2203G>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261687	0.80358	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.76448	-1.02;-1.02	5.61	5.61	0.85477	Complement control module (2);Sushi/SCR/CCP (3);	0.501872	0.23108	N	0.051825	D	0.90345	0.6979	M	0.88979	2.995	0.58432	D	0.999996	D	0.69078	0.997	D	0.72982	0.979	D	0.91300	0.5066	10	0.66056	D	0.02	-16.7671	19.6327	0.95717	0.0:1.0:0.0:0.0	.	735	P13671	CO6_HUMAN	S	735	ENSP00000338861:G735S;ENSP00000263413:G735S	ENSP00000263413:G735S	G	-	1	0	C6	41189756	0.997000	0.39634	0.978000	0.43139	0.501000	0.33797	5.335000	0.65929	2.646000	0.89796	0.555000	0.69702	GGC		0.473	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			12	45	0	0	0	0.010729	0	12	45				
C17orf53	78995	broad.mit.edu	37	17	42228331	42228331	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:42228331G>A	ENST00000319977.4	+	4	1464	c.1227G>A	c.(1225-1227)caG>caA	p.Q409Q	C17orf53_ENST00000245382.6_Intron|C17orf53_ENST00000585683.1_Silent_p.Q409Q	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	409										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCTCTTAGCAGAGTGGGAGAA	0.453																																						ENST00000319977.4																			0				NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(1225-1227)caG>caA		chromosome 17 open reading frame 53							59.0	47.0	51.0					17																	42228331		2203	4300	6503	SO:0001819	synonymous_variant	78995							g.chr17:42228331G>A	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.1227G>A	17.37:g.42228331G>A						C17orf53_ENST00000585683.1_Silent_p.Q409Q|C17orf53_ENST00000245382.6_Intron	p.Q409Q	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	4	1464	+		Breast(137;0.0364)|Prostate(33;0.0376)	409					A8K7A9|Q9BWM9|Q9HAI1	Silent	SNP	ENST00000319977.4	37	c.1227G>A	CCDS11477.1																																																																																				0.453	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		3	20	0	0	0	0.004672	0	3	20				
NASP	4678	broad.mit.edu	37	1	46073825	46073825	+	Silent	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:46073825C>G	ENST00000350030.3	+	6	1329	c.1242C>G	c.(1240-1242)gtC>gtG	p.V414V	NASP_ENST00000372052.4_Intron|NASP_ENST00000351223.3_Intron|NASP_ENST00000537798.1_Silent_p.V350V|NASP_ENST00000402363.3_Silent_p.V416V	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	414	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGGAGAAGGTCAGGGCAAAGC	0.493																																						ENST00000350030.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17						c.(1240-1242)gtC>gtG		nuclear autoantigenic sperm protein (histone-binding)							76.0	77.0	77.0					1																	46073825		2203	4300	6503	SO:0001819	synonymous_variant	4678				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46073825C>G	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1242C>G	1.37:g.46073825C>G						NASP_ENST00000372052.4_Intron|NASP_ENST00000402363.3_Silent_p.V416V|NASP_ENST00000351223.3_Intron|NASP_ENST00000537798.1_Silent_p.V350V	p.V414V	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN			6	1329	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		414			Glu-rich (acidic).		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Silent	SNP	ENST00000350030.3	37	c.1242C>G	CCDS524.1																																																																																				0.493	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		11	46	0	0	0	0.008291	0	11	46				
SCARB2	950	broad.mit.edu	37	4	77116980	77116980	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:77116980G>A	ENST00000264896.2	-	2	504	c.155C>T	c.(154-156)tCc>tTc	p.S52F	SCARB2_ENST00000452464.2_Missense_Mutation_p.S52F	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	52					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			CTTCTCCCAGGAGTCAAATGC	0.438																																						ENST00000264896.2																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22						c.(154-156)tCc>tTc		scavenger receptor class B, member 2							61.0	64.0	63.0					4																	77116980		2203	4300	6503	SO:0001583	missense	950				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	g.chr4:77116980G>A	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.155C>T	4.37:g.77116980G>A	ENSP00000264896:p.Ser52Phe					SCARB2_ENST00000452464.2_Missense_Mutation_p.S52F	p.S52F	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	Lung(101;0.196)		2	504	-			52					B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	ENST00000264896.2	37	c.155C>T	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758241	0.69763	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	T;T	0.73897	-0.79;-0.79	5.55	5.55	0.83447	.	0.104901	0.64402	D	0.000006	T	0.76492	0.3995	M	0.63428	1.95	0.23063	N	0.998358	D;P	0.60575	0.988;0.885	P;P	0.53988	0.739;0.733	T	0.70306	-0.4908	10	0.38643	T	0.18	.	7.4396	0.27174	0.0834:0.0:0.7488:0.1677	.	52;52	E7EM68;Q14108	.;SCRB2_HUMAN	F	52	ENSP00000264896:S52F;ENSP00000399154:S52F	ENSP00000264896:S52F	S	-	2	0	SCARB2	77336004	0.638000	0.27225	1.000000	0.80357	0.784000	0.44337	2.002000	0.40835	2.607000	0.88179	0.585000	0.79938	TCC		0.438	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506		25	35	0	0	0	0.004656	0	25	35				
TACR3	6870	broad.mit.edu	37	4	104640669	104640669	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:104640669G>A	ENST00000304883.2	-	1	304	c.164C>T	c.(163-165)cCt>cTt	p.P55L		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	55					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CAGCGCGGAAGGGGAGGAGGA	0.697																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(163-165)cCt>cTt		tachykinin receptor 3							45.0	51.0	49.0					4																	104640669		2203	4298	6501	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640669G>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.164C>T	4.37:g.104640669G>A	ENSP00000303325:p.Pro55Leu						p.P55L	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	304	-		Hepatocellular(203;0.217)	55					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.164C>T	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	G	3.011	-0.204001	0.06180	.	.	ENSG00000169836	ENST00000304883	T	0.63096	-0.02	4.01	2.27	0.28462	.	0.859155	0.10020	N	0.726068	T	0.30293	0.0760	N	0.03608	-0.345	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.27226	-1.0080	10	0.06099	T	0.92	.	4.6941	0.12795	0.1133:0.0:0.6723:0.2144	.	55	P29371	NK3R_HUMAN	L	55	ENSP00000303325:P55L	ENSP00000303325:P55L	P	-	2	0	TACR3	104860118	0.001000	0.12720	0.001000	0.08648	0.081000	0.17604	0.353000	0.20130	0.354000	0.24105	-0.470000	0.05040	CCT		0.697	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		7	36	0	0	0	0.001984	0	7	36				
BCL9	607	broad.mit.edu	37	1	147091317	147091317	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:147091317C>T	ENST00000234739.3	+	8	2096	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	452	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CTATGAACTCCCAGTCTGGGA	0.532			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1354-1356)tcC>tcT		B-cell CLL/lymphoma 9							49.0	53.0	52.0					1																	147091317		2203	4300	6503	SO:0001819	synonymous_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091317C>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1356C>T	1.37:g.147091317C>T							p.S452S	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2096	+	all_hematologic(923;0.115)		452			Pro-rich.		Q5T489	Silent	SNP	ENST00000234739.3	37	c.1356C>T	CCDS30833.1																																																																																				0.532	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		12	55	0	0	0	0.010729	0	12	55				
FAM193B	54540	broad.mit.edu	37	5	176951848	176951848	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:176951848T>A	ENST00000514747.1	-	6	1682	c.1634A>T	c.(1633-1635)cAc>cTc	p.H545L	FAM193B_ENST00000329540.5_Missense_Mutation_p.H171L|FAM193B_ENST00000508298.1_5'Flank|FAM193B_ENST00000443375.2_Missense_Mutation_p.H512L	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	625						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						TTGTAACGTGTGGTTCTGAGG	0.617																																						ENST00000329540.5																			0				kidney(1)|large_intestine(3)	4						c.(511-513)cAc>cTc		family with sequence similarity 193, member B							22.0	24.0	23.0					5																	176951848		1980	4153	6133	SO:0001583	missense	54540							g.chr5:176951848T>A		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1634A>T	5.37:g.176951848T>A	ENSP00000422131:p.His545Leu					FAM193B_ENST00000514747.1_Missense_Mutation_p.H545L|FAM193B_ENST00000443375.2_Missense_Mutation_p.H512L	p.H171L			Q6IPW0	Q6IPW0_HUMAN			9	3341	-			221					E9PET5|Q9NW00	Missense_Mutation	SNP	ENST00000514747.1	37	c.512A>T	CCDS54954.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.005734	0.74932	.	.	ENSG00000146067	ENST00000514747;ENST00000443375;ENST00000329540	T;T;T	0.54279	0.58;0.64;0.58	5.22	4.02	0.46733	.	0.549773	0.18647	N	0.135134	T	0.66416	0.2787	L	0.58810	1.83	0.53005	D	0.999966	D;D;D	0.76494	0.991;0.999;0.974	D;D;P	0.72075	0.922;0.976;0.844	T	0.66614	-0.5879	10	0.72032	D	0.01	-15.7642	10.9101	0.47103	0.0:0.0:0.1572:0.8428	.	545;171;512	E9PET5;E7ER81;E9PEZ8	.;.;.	L	545;512;171	ENSP00000422131:H545L;ENSP00000410098:H512L;ENSP00000332014:H171L	ENSP00000332014:H171L	H	-	2	0	FAM193B	176884454	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.748000	0.68697	0.956000	0.37904	0.459000	0.35465	CAC		0.617	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057		7	2	0	0	0	0.001984	0	7	2				
RYR3	6263	broad.mit.edu	37	15	33927944	33927944	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:33927944G>A	ENST00000389232.4	+	26	3375	c.3305G>A	c.(3304-3306)gGc>gAc	p.G1102D	RYR3_ENST00000415757.3_Missense_Mutation_p.G1102D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1102	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATGCGAGTCGGCTGGGCGAGG	0.507																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(3304-3306)gGc>gAc		ryanodine receptor 3							60.0	63.0	62.0					15																	33927944		2023	4195	6218	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33927944G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3305G>A	15.37:g.33927944G>A	ENSP00000373884:p.Gly1102Asp					RYR3_ENST00000415757.3_Missense_Mutation_p.G1102D	p.G1102D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	26	3375	+		all_lung(180;7.18e-09)	1102			4 X approximate repeats.|B30.2/SPRY 2.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.3305G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	33	5.245455	0.95272	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.99201	-5.55;-5.55	5.32	5.32	0.75619	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97931	1.0320	10	0.87932	D	0	.	19.1899	0.93660	0.0:0.0:1.0:0.0	.	1102;1102	Q15413-2;Q15413	.;RYR3_HUMAN	D	1102	ENSP00000373884:G1102D;ENSP00000399610:G1102D	ENSP00000354735:G1102D	G	+	2	0	RYR3	31715236	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	9.538000	0.98072	2.760000	0.94817	0.655000	0.94253	GGC		0.507	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	14	0	0	0	0.001984	0	7	14				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			3	54	0	0	0	0.004672	0	3	54				
CCNG2	901	broad.mit.edu	37	4	78081922	78081922	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:78081922G>T	ENST00000316355.5	+	4	681	c.325G>T	c.(325-327)Gct>Tct	p.A109S	CCNG2_ENST00000502280.1_Missense_Mutation_p.A109S|CCNG2_ENST00000395640.1_Missense_Mutation_p.A109S|CCNG2_ENST00000354403.5_Missense_Mutation_p.A109S|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000509972.1_Missense_Mutation_p.A109S	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	109					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTTTTGCTGGCTGCTAGAAT	0.388																																						ENST00000316355.5																			0				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(325-327)Gct>Tct		cyclin G2							113.0	117.0	116.0					4																	78081922		2202	4300	6502	SO:0001583	missense	901				cell cycle checkpoint|cell division|mitosis	cytoplasm		g.chr4:78081922G>T	BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.325G>T	4.37:g.78081922G>T	ENSP00000315743:p.Ala109Ser					CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000395640.1_Missense_Mutation_p.A109S|CCNG2_ENST00000354403.5_Missense_Mutation_p.A109S|CCNG2_ENST00000509972.1_Missense_Mutation_p.A109S|CCNG2_ENST00000502280.1_Missense_Mutation_p.A109S	p.A109S	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN			4	681	+			109					B4DF25|Q6FGA7|Q6FGC6	Missense_Mutation	SNP	ENST00000316355.5	37	c.325G>T	CCDS3581.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282732	0.80692	.	.	ENSG00000138764	ENST00000316355;ENST00000354403;ENST00000502280;ENST00000395640;ENST00000512918;ENST00000509972	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	5.81	5.81	0.92471	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	M	0.87381	2.88	0.80722	D	1	D;P	0.53462	0.96;0.474	P;B	0.58577	0.841;0.158	T	0.75522	-0.3288	10	0.66056	D	0.02	-20.3634	20.0832	0.97789	0.0:0.0:1.0:0.0	.	109;109	B4DF25;Q16589	.;CCNG2_HUMAN	S	109	ENSP00000315743:A109S;ENSP00000346379:A109S;ENSP00000424665:A109S;ENSP00000379002:A109S;ENSP00000426085:A109S;ENSP00000426476:A109S	ENSP00000315743:A109S	A	+	1	0	CCNG2	78300946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.467000	0.97671	2.751000	0.94390	0.650000	0.86243	GCT		0.388	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	NM_004354		41	78	1	0	9.39024e-22	0.009718	1.12341e-21	41	78				
FGF10	2255	broad.mit.edu	37	5	44305279	44305279	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:44305279C>T	ENST00000264664.4	-	3	559	c.445G>A	c.(445-447)Gac>Aac	p.D149N		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	149					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCTTACAGTCATTGTTAAAT	0.378																																						ENST00000264664.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13						c.(445-447)Gac>Aac		fibroblast growth factor 10							168.0	152.0	158.0					5																	44305279		2203	4300	6503	SO:0001583	missense	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44305279C>T		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.445G>A	5.37:g.44305279C>T	ENSP00000264664:p.Asp149Asn						p.D149N	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN			3	559	-	Lung NSC(6;1.12e-06)		149					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Missense_Mutation	SNP	ENST00000264664.4	37	c.445G>A	CCDS3950.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704757	0.48412	.	.	ENSG00000070193	ENST00000264664	D	0.91631	-2.88	5.86	5.86	0.93980	.	0.094778	0.64402	D	0.000001	D	0.90796	0.7110	L	0.42245	1.32	0.80722	D	1	P	0.35050	0.482	B	0.38458	0.274	D	0.89347	0.3658	10	0.48119	T	0.1	.	20.1818	0.98206	0.0:1.0:0.0:0.0	.	149	O15520	FGF10_HUMAN	N	149	ENSP00000264664:D149N	ENSP00000264664:D149N	D	-	1	0	FGF10	44341036	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.897000	0.63231	2.759000	0.94783	0.650000	0.86243	GAC		0.378	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		12	86	0	0	0	0.010729	0	12	86				
PLEC	5339	broad.mit.edu	37	8	144991527	144991527	+	Silent	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:144991527C>G	ENST00000322810.4	-	32	13042	c.12873G>C	c.(12871-12873)gtG>gtC	p.V4291V	PLEC_ENST00000345136.3_Silent_p.V4154V|PLEC_ENST00000436759.2_Silent_p.V4181V|PLEC_ENST00000354589.3_Silent_p.V4154V|PLEC_ENST00000356346.3_Silent_p.V4140V|PLEC_ENST00000527096.1_Silent_p.V4177V|PLEC_ENST00000357649.2_Silent_p.V4158V|PLEC_ENST00000354958.2_Silent_p.V4132V|PLEC_ENST00000398774.2_Silent_p.V4122V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4291	Binding to intermediate filaments. {ECO:0000250}.|Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGGCCTCGTACACTGACATCT	0.622																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12871-12873)gtG>gtC		plectin							75.0	84.0	81.0					8																	144991527		2152	4248	6400	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991527C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12873G>C	8.37:g.144991527C>G						PLEC_ENST00000345136.3_Silent_p.V4154V|PLEC_ENST00000357649.2_Silent_p.V4158V|PLEC_ENST00000356346.3_Silent_p.V4140V|PLEC_ENST00000354589.3_Silent_p.V4154V|PLEC_ENST00000436759.2_Silent_p.V4181V|PLEC_ENST00000527096.1_Silent_p.V4177V|PLEC_ENST00000354958.2_Silent_p.V4132V|PLEC_ENST00000398774.2_Silent_p.V4122V	p.V4291V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13042	-			4291			Binding to intermediate filaments (By similarity).|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.12873G>C	CCDS43772.1																																																																																				0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		6	72	0	0	0	0.001168	0	6	72				
NUDT2	318	broad.mit.edu	37	9	34339067	34339067	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:34339067C>G	ENST00000379158.2	+	4	388	c.30C>G	c.(28-30)atC>atG	p.I10M	NUDT2_ENST00000379155.5_Missense_Mutation_p.I10M|NUDT2_ENST00000346365.4_Missense_Mutation_p.I10M	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	10	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				apoptotic process (GO:0006915)|nucleobase-containing compound metabolic process (GO:0006139)	mitochondrion (GO:0005739)	bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity (GO:0004081)|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity (GO:0008803)|GTP binding (GO:0005525)	p.I10M(1)		lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GCTTGATCATCTTCCGAAGAT	0.428																																					Melanoma(95;1683 1957 4276 39813)	ENST00000379158.2																			1	Substitution - Missense(1)	p.I10M(1)	lung(1)	lung(3)	3						c.(28-30)atC>atG		nudix (nucleoside diphosphate linked moiety X)-type motif 2							162.0	143.0	149.0					9																	34339067		2203	4300	6503	SO:0001583	missense	318				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding	g.chr9:34339067C>G	U30313	CCDS6552.1	9p13	2008-07-21			ENSG00000164978	ENSG00000164978		"""Nudix motif containing"""	8049	protein-coding gene	gene with protein product	"""Ap4A hydrolase 1"", ""Ap4Aase"", ""bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)"", ""diadenosine tetraphosphatase"", ""diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase"""	602852		APAH1		7487923, 9479504	Standard	NM_001161		Approved		uc022bga.1	P50583	OTTHUMG00000019817	ENST00000379158.2:c.30C>G	9.37:g.34339067C>G	ENSP00000368455:p.Ile10Met					NUDT2_ENST00000379155.5_Missense_Mutation_p.I10M|NUDT2_ENST00000346365.4_Missense_Mutation_p.I10M	p.I10M	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	4	388	+			10			Nudix hydrolase.		D3DRM0|Q5T589	Missense_Mutation	SNP	ENST00000379158.2	37	c.30C>G	CCDS6552.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558734	0.65538	.	.	ENSG00000164978	ENST00000337747;ENST00000379154;ENST00000379155;ENST00000346365;ENST00000379158	.	.	.	5.7	4.62	0.57501	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.101452	0.64402	D	0.000002	T	0.74160	0.3680	M	0.68952	2.095	0.80722	D	1	P	0.47106	0.89	D	0.67900	0.954	T	0.73547	-0.3948	9	0.49607	T	0.09	-4.7431	10.3829	0.44123	0.1364:0.7856:0.0:0.078	.	10	P50583	AP4A_HUMAN	M	10	.	ENSP00000338397:I10M	I	+	3	3	NUDT2	34329067	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.006000	0.29847	2.692000	0.91855	0.655000	0.94253	ATC		0.428	NUDT2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052160.2	NM_001161		14	41	0	0	0	0.002450	0	14	41				
OR51M1	390059	broad.mit.edu	37	11	5410918	5410918	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:5410918T>C	ENST00000328611.3	+	1	312	c.290T>C	c.(289-291)tTc>tCc	p.F97S	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	97					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGGGATCTTCTGGTTTAAC	0.502																																						ENST00000328611.3																			0				NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(289-291)tTc>tCc		olfactory receptor, family 51, subfamily M, member 1							167.0	156.0	160.0					11																	5410918		2007	4196	6203	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5410918T>C	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.290T>C	11.37:g.5410918T>C	ENSP00000333196:p.Phe97Ser					HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	p.F97S	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	312	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	97					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.290T>C	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.144909	0.37825	.	.	ENSG00000184698	ENST00000328611	T	0.00327	8.09	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.242826	0.21222	U	0.078135	T	0.00695	0.0023	M	0.64676	1.99	0.31341	N	0.683645	D	0.76494	0.999	D	0.77557	0.99	T	0.54022	-0.8355	10	0.87932	D	0	.	13.9465	0.64089	0.0:0.0:0.0:1.0	.	86	Q9H341	O51M1_HUMAN	S	97	ENSP00000333196:F97S	ENSP00000333196:F97S	F	+	2	0	OR51M1	5367494	0.016000	0.18221	0.997000	0.53966	0.088000	0.18126	1.205000	0.32308	2.164000	0.68074	0.528000	0.53228	TTC		0.502	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		33	82	0	0	0	0.002836	0	33	82				
FAM65A	79567	broad.mit.edu	37	16	67574260	67574260	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:67574260A>G	ENST00000379312.3	+	8	758	c.637A>G	c.(637-639)Atg>Gtg	p.M213V	CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000540839.3_Missense_Mutation_p.M229V|CTD-2012K14.4_ENST00000564717.1_RNA|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.M229V|FAM65A_ENST00000042381.4_Missense_Mutation_p.M209V|FAM65A_ENST00000428437.2_Missense_Mutation_p.M223V	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	213						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TCATCTCCGAATGAAAGGTAC	0.612																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(685-687)Atg>Gtg		family with sequence similarity 65, member A							66.0	72.0	70.0					16																	67574260		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67574260A>G	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.637A>G	16.37:g.67574260A>G	ENSP00000368614:p.Met213Val					FAM65A_ENST00000042381.4_Missense_Mutation_p.M209V|FAM65A_ENST00000428437.2_Missense_Mutation_p.M223V|FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000379312.3_Missense_Mutation_p.M213V|FAM65A_ENST00000422602.2_Missense_Mutation_p.M229V	p.M229V			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	9	905	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	213					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.685A>G	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.58|17.58	3.423918|3.423918	0.62733|0.62733	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|.	0.02280|.	4.36;4.36;4.36|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76528|0.76528	0.4000|0.4000	M|M	0.81112|0.81112	2.525|2.525	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.69078|.	0.997;0.997;0.997;0.997|.	D;D;D;D|.	0.73380|.	0.98;0.98;0.98;0.98|.	T|T	0.78484|0.78484	-0.2186|-0.2186	10|5	0.59425|.	D|.	0.04|.	-19.5007|-19.5007	15.1098|15.1098	0.72346|0.72346	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	223;229;213;229|.	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9|.	.;.;FA65A_HUMAN;.|.	V|S	213;209;229;223|203	ENSP00000368614:M213V;ENSP00000042381:M209V;ENSP00000400099:M229V|.	ENSP00000042381:M209V|.	M|N	+|+	1|2	0|0	FAM65A|FAM65A	66131761|66131761	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.326000|7.326000	0.79133|0.79133	1.985000|1.985000	0.57927|0.57927	0.454000|0.454000	0.30748|0.30748	ATG|AAT		0.612	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		15	40	0	0	0	0.004007	0	15	40				
COL14A1	7373	broad.mit.edu	37	8	121292244	121292244	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:121292244C>T	ENST00000297848.3	+	29	3822	c.3552C>T	c.(3550-3552)ccC>ccT	p.P1184P	COL14A1_ENST00000247781.3_Silent_p.P1089P|COL14A1_ENST00000309791.4_Silent_p.P1184P	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCAGTAAGCCCAGCGCACGCC	0.443																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(3550-3552)ccC>ccT		collagen, type XIV, alpha 1							138.0	122.0	128.0					8																	121292244		2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121292244C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3552C>T	8.37:g.121292244C>T						COL14A1_ENST00000309791.4_Silent_p.P1184P|COL14A1_ENST00000247781.3_Silent_p.P1089P	p.P1184P	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		29	3822	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1184			VWFA 2.			Silent	SNP	ENST00000297848.3	37	c.3552C>T	CCDS34938.1																																																																																				0.443	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		5	62	0	0	0	0.000602	0	5	62				
IFT74	80173	broad.mit.edu	37	9	27056421	27056421	+	Silent	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:27056421A>G	ENST00000443698.1	+	18	1758	c.1587A>G	c.(1585-1587)ctA>ctG	p.L529L	IFT74_ENST00000380062.5_Silent_p.L529L|IFT74_ENST00000433700.1_Silent_p.L529L	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	529					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		ATGAGGCACTAAAAACACAAT	0.308																																						ENST00000443698.1																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(1585-1587)ctA>ctG		intraflagellar transport 74 homolog (Chlamydomonas)							104.0	100.0	101.0					9																	27056421		1816	4076	5892	SO:0001819	synonymous_variant	80173					cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum		g.chr9:27056421A>G	AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"""Intraflagellar transport homologs"""	21424	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 1"""	608040	"""coiled-coil domain containing 2"", ""intraflagellar transport 74 homolog (Chlamydomonas)"""	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.1587A>G	9.37:g.27056421A>G						IFT74_ENST00000433700.1_Silent_p.L529L|IFT74_ENST00000380062.5_Silent_p.L529L	p.L529L	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)	18	1758	+		all_neural(11;2.36e-10)	529					Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Silent	SNP	ENST00000443698.1	37	c.1587A>G	CCDS43793.1																																																																																				0.308	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	NM_025103		21	27	0	0	0	0.008871	0	21	27				
B4GALNT2	124872	broad.mit.edu	37	17	47241498	47241498	+	Missense_Mutation	SNP	G	G	A	rs201209295		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:47241498G>A	ENST00000300404.2	+	8	1054	c.995G>A	c.(994-996)cGc>cAc	p.R332H	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.R246H|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.R272H	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	332					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			ACTTTCCTCCGCCCCCACAAG	0.502													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19877	0.0		0.0	False		,,,				2504	0.0				GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(994-996)cGc>cAc		beta-1,4-N-acetyl-galactosaminyl transferase 2							168.0	161.0	164.0					17																	47241498		2203	4300	6503	SO:0001583	missense	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47241498G>A	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.995G>A	17.37:g.47241498G>A	ENSP00000300404:p.Arg332His					B4GALNT2_ENST00000393354.2_Missense_Mutation_p.R272H|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.R246H	p.R332H	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		8	1054	+			332					B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	c.995G>A	CCDS11544.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	25.0	4.592131	0.86953	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.64085	-0.08;-0.08;-0.08	5.58	3.59	0.41128	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.80292	0.4596	M	0.88450	2.955	0.44956	D	0.99797	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.82182	-0.0584	10	0.87932	D	0	-19.4799	11.2301	0.48907	0.1522:0.0:0.8478:0.0	.	272;332	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	H	246;272;332	ENSP00000425510:R246H;ENSP00000377022:R272H;ENSP00000300404:R332H	ENSP00000300404:R332H	R	+	2	0	B4GALNT2	44596497	1.000000	0.71417	0.993000	0.49108	0.932000	0.56968	7.042000	0.76565	0.714000	0.32081	0.555000	0.69702	CGC		0.502	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		60	97	0	0	0	0.003610	0	60	97				
PLSCR4	57088	broad.mit.edu	37	3	145917612	145917612	+	Silent	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:145917612A>G	ENST00000354952.2	-	6	852	c.612T>C	c.(610-612)tcT>tcC	p.S204S	PLSCR4_ENST00000446574.2_Silent_p.S204S|PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000493382.1_Silent_p.S204S	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	204					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CTTGTCTGGCAGAGGGGCAAC	0.502																																						ENST00000354952.2																			0				kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						c.(610-612)tcT>tcC		phospholipid scramblase 4							64.0	62.0	62.0					3																	145917612		2203	4300	6503	SO:0001819	synonymous_variant	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145917612A>G	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.612T>C	3.37:g.145917612A>G						PLSCR4_ENST00000446574.2_Silent_p.S204S|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000493382.1_Silent_p.S204S	p.S204S	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN			6	852	-			204					A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Silent	SNP	ENST00000354952.2	37	c.612T>C	CCDS3133.1																																																																																				0.502	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		6	17	0	0	0	0.001168	0	6	17				
FARP2	9855	broad.mit.edu	37	2	242415337	242415337	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:242415337C>T	ENST00000264042.3	+	19	2367	c.2197C>T	c.(2197-2199)Ctg>Ttg	p.L733L	MIR3133_ENST00000583157.1_RNA	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	733					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GCTGGAGAACCTGCAGAAGCT	0.557																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(2197-2199)Ctg>Ttg		FERM, RhoGEF and pleckstrin domain protein 2							98.0	82.0	88.0					2																	242415337		2203	4300	6503	SO:0001819	synonymous_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242415337C>T	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2197C>T	2.37:g.242415337C>T							p.L733L	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	19	2367	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	733					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	c.2197C>T	CCDS33424.1																																																																																				0.557	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			9	26	0	0	0	0.008291	0	9	26				
SEMA5B	54437	broad.mit.edu	37	3	122629889	122629889	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:122629889A>T	ENST00000357599.3	-	22	3481	c.3095T>A	c.(3094-3096)tTc>tAc	p.F1032Y	SEMA5B_ENST00000451055.2_Missense_Mutation_p.F1086Y|SEMA5B_ENST00000195173.4_Missense_Mutation_p.S1074T	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	1032					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GATGAGATTGAACCCTAGGGG	0.587																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(3220-3222)Tca>Aca		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							60.0	52.0	55.0					3																	122629889		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122629889A>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.3095T>A	3.37:g.122629889A>T	ENSP00000350215:p.Phe1032Tyr					SEMA5B_ENST00000451055.2_Missense_Mutation_p.F1086Y|SEMA5B_ENST00000357599.3_Missense_Mutation_p.F1032Y	p.S1074T			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	22	3523	-			0					A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.3220T>A	CCDS35491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.1|27.1	4.797822|4.797822	0.90538|0.90538	.|.	.|.	ENSG00000082684|ENSG00000082684	ENST00000357599;ENST00000418793;ENST00000451055;ENST00000393583|ENST00000451541;ENST00000195173	T;T;T|T	0.34275|0.35236	1.37;1.43;1.49|1.32	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50820|0.50820	0.1638|0.1638	M|M	0.66939|0.66939	2.045|2.045	0.30068|0.30068	N|N	0.810324|0.810324	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.80764|.	0.994;0.99|.	T|T	0.55848|0.55848	-0.8076|-0.8076	10|7	0.59425|0.87932	D|D	0.04|0	.|.	14.0536|14.0536	0.64754|0.64754	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	938;1032|.	D3YTI7;Q9P283|.	.;SEM5B_HUMAN|.	Y|T	1032;938;1086;1032|78;1074	ENSP00000350215:F1032Y;ENSP00000389588:F1086Y;ENSP00000377208:F1032Y|ENSP00000195173:S1074T	ENSP00000350215:F1032Y|ENSP00000195173:S1074T	F|S	-|-	2|1	0|0	SEMA5B|SEMA5B	124112579|124112579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	8.250000|8.250000	0.89835|0.89835	2.112000|2.112000	0.64535|0.64535	0.533000|0.533000	0.62120|0.62120	TTC|TCA		0.587	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		11	14	0	0	0	0.008291	0	11	14				
RFX6	222546	broad.mit.edu	37	6	117248219	117248219	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:117248219C>A	ENST00000332958.2	+	17	1931	c.1915C>A	c.(1915-1917)Cat>Aat	p.H639N		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	639					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GATTGCTGGTCATCTGATGAC	0.453																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(1915-1917)Cat>Aat		regulatory factor X, 6							102.0	101.0	102.0					6																	117248219		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117248219C>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1915C>A	6.37:g.117248219C>A	ENSP00000332208:p.His639Asn						p.H639N	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			17	1931	+			639					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1915C>A	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268573	0.23136	.	.	ENSG00000185002	ENST00000332958	T	0.54071	0.59	5.68	4.8	0.61643	.	0.298098	0.37761	N	0.001947	T	0.27098	0.0664	L	0.57536	1.79	0.43073	D	0.994716	B	0.02656	0.0	B	0.04013	0.001	T	0.40813	-0.9543	10	0.02654	T	1	-5.5788	16.1573	0.81676	0.1342:0.8658:0.0:0.0	.	639	Q8HWS3	RFX6_HUMAN	N	639	ENSP00000332208:H639N	ENSP00000332208:H639N	H	+	1	0	RFX6	117354912	0.889000	0.30405	0.926000	0.36857	0.638000	0.38207	2.575000	0.46025	1.373000	0.46208	0.655000	0.94253	CAT		0.453	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		19	55	1	0	1.2644e-06	0.010504	1.41013e-06	19	55				
AQP10	89872	broad.mit.edu	37	1	154296361	154296361	+	Intron	SNP	C	C	T	rs556679086		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:154296361C>T	ENST00000324978.3	+	5	747				AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000484864.1_Silent_p.L262L|ATP8B2_ENST00000368487.3_5'Flank	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10						response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCACAGCACTCTGCCTTTAAA	0.527																																						ENST00000484864.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(784-786)ctC>ctT		aquaporin 10																																				SO:0001627	intron_variant	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154296361C>T	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.707+79C>T	1.37:g.154296361C>T						AQP10_ENST00000324978.3_Intron|AQP10_ENST00000355197.4_3'UTR	p.L262L			Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	822	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		0					Q5VYD3|Q5VYD4|Q8NG70	Silent	SNP	ENST00000324978.3	37	c.786C>T	CCDS1065.1																																																																																				0.527	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		2	3	0	0	0	0.004672	0	2	3				
PEX1	5189	broad.mit.edu	37	7	92120800	92120800	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:92120800G>C	ENST00000248633.4	-	21	3319	c.3224C>G	c.(3223-3225)tCt>tGt	p.S1075C	AC007566.10_ENST00000427458.1_RNA|PEX1_ENST00000438045.1_Missense_Mutation_p.S753C|PEX1_ENST00000428214.1_Missense_Mutation_p.S1018C|AC007566.10_ENST00000441539.1_RNA	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1075					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GTCACTATCAGAGCTGGAACT	0.373																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(3223-3225)tCt>tGt		peroxisomal biogenesis factor 1							111.0	109.0	110.0					7																	92120800		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92120800G>C	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.3224C>G	7.37:g.92120800G>C	ENSP00000248633:p.Ser1075Cys					AC007566.10_ENST00000427458.1_RNA|PEX1_ENST00000438045.1_Missense_Mutation_p.S753C|PEX1_ENST00000428214.1_Missense_Mutation_p.S1018C	p.S1075C	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		21	3319	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	1075					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.3224C>G	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585702	0.86748	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;D	0.95069	-3.54;-3.6;-3.6	5.36	5.36	0.76844	.	0.050640	0.85682	D	0.000000	D	0.96713	0.8927	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.97005	0.9732	10	0.87932	D	0	-17.1778	19.5009	0.95093	0.0:0.0:1.0:0.0	.	753;867;1075	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	C	753;1075;1018	ENSP00000410438:S753C;ENSP00000248633:S1075C;ENSP00000394413:S1018C	ENSP00000248633:S1075C	S	-	2	0	PEX1	91958736	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.174000	0.94824	2.698000	0.92095	0.485000	0.47835	TCT		0.373	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		16	63	0	0	0	0.004007	0	16	63				
SLC35D3	340146	broad.mit.edu	37	6	137243715	137243715	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:137243715C>T	ENST00000331858.4	+	1	314	c.149C>T	c.(148-150)tCc>tTc	p.S50F		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	50					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CTGACCAGCTCCACCGCGGCG	0.687																																						ENST00000331858.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13						c.(148-150)tCc>tTc		solute carrier family 35, member D3							38.0	35.0	36.0					6																	137243715		2203	4300	6503	SO:0001583	missense	340146				carbohydrate transport	integral to membrane		g.chr6:137243715C>T		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.149C>T	6.37:g.137243715C>T	ENSP00000333591:p.Ser50Phe						p.S50F	NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	1	314	+	Colorectal(23;0.24)		50					B4DI58|Q5QNZ6|Q6NX71	Missense_Mutation	SNP	ENST00000331858.4	37	c.149C>T	CCDS34544.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118637	0.56505	.	.	ENSG00000182747	ENST00000331858	T	0.54479	0.57	4.53	4.53	0.55603	.	0.597033	0.16873	N	0.196052	T	0.17238	0.0414	N	0.19112	0.55	0.49798	D	0.999821	B	0.06786	0.001	B	0.04013	0.001	T	0.08371	-1.0725	10	0.12766	T	0.61	-14.8546	9.8373	0.40977	0.0:0.9034:0.0:0.0966	.	50	Q5M8T2	S35D3_HUMAN	F	50	ENSP00000333591:S50F	ENSP00000333591:S50F	S	+	2	0	SLC35D3	137285408	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.070000	0.30653	2.074000	0.62210	0.491000	0.48974	TCC		0.687	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		12	12	0	0	0	0.001855	0	12	12				
ABCA13	154664	broad.mit.edu	37	7	48313389	48313389	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:48313389G>C	ENST00000435803.1	+	17	4150	c.4126G>C	c.(4126-4128)Gac>Cac	p.D1376H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1376					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACGTATTCTAGACACGTTAAA	0.328																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(4126-4128)Gac>Cac		ATP-binding cassette, sub-family A (ABC1), member 13							54.0	50.0	51.0					7																	48313389		1862	4093	5955	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48313389G>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4126G>C	7.37:g.48313389G>C	ENSP00000411096:p.Asp1376His						p.D1376H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	4150	+			1376					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.4126G>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	4.789	0.146743	0.09134	.	.	ENSG00000179869	ENST00000435803	D	0.85629	-2.01	5.38	2.35	0.29111	.	1.093000	0.07127	N	0.844833	T	0.66809	0.2827	N	0.08118	0	0.09310	N	1	B	0.31519	0.327	B	0.31191	0.125	T	0.57997	-0.7714	9	.	.	.	.	1.4661	0.02406	0.1803:0.162:0.4568:0.2008	.	1376	Q86UQ4	ABCAD_HUMAN	H	1376	ENSP00000411096:D1376H	.	D	+	1	0	ABCA13	48283935	0.750000	0.28316	0.539000	0.28077	0.015000	0.08874	0.638000	0.24674	0.614000	0.30107	0.563000	0.77884	GAC		0.328	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		6	15	0	0	0	0.001168	0	6	15				
CYLC1	1538	broad.mit.edu	37	X	83128670	83128670	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chrX:83128670G>A	ENST00000329312.4	+	4	991	c.954G>A	c.(952-954)aaG>aaA	p.K318K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	318					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAAATGTCAAGAAAGATGACA	0.353																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(952-954)aaG>aaA		cylicin, basic protein of sperm head cytoskeleton 1							45.0	41.0	42.0					X																	83128670		2196	4296	6492	SO:0001819	synonymous_variant	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128670G>A	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.954G>A	X.37:g.83128670G>A							p.K318K	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	991	+			318					A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	c.954G>A	CCDS35341.1																																																																																				0.353	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		22	6	0	0	0	0.002299	0	22	6				
NCOA5	57727	broad.mit.edu	37	20	44692044	44692044	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:44692044C>T	ENST00000290231.6	-	7	1269	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TCCTTCCGCTCTCGCAGGTAG	0.577																																						ENST00000290231.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1105-1107)Gag>Aag		nuclear receptor coactivator 5							71.0	63.0	66.0					20																	44692044		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44692044C>T		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1105G>A	20.37:g.44692044C>T	ENSP00000290231:p.Glu369Lys						p.E369K	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			7	1269	-		Myeloproliferative disorder(115;0.0122)	369					B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.1105G>A	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595786	0.46318	.	.	ENSG00000124160	ENST00000290231	T	0.49720	0.77	5.41	5.41	0.78517	.	0.174484	0.64402	D	0.000011	T	0.38532	0.1044	N	0.25890	0.77	0.45621	D	0.998556	B	0.32160	0.358	B	0.29716	0.106	T	0.26503	-1.0101	10	0.51188	T	0.08	-1.3879	18.3708	0.90406	0.0:1.0:0.0:0.0	.	369	Q9HCD5	NCOA5_HUMAN	K	369	ENSP00000290231:E369K	ENSP00000290231:E369K	E	-	1	0	NCOA5	44125451	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.677000	0.61634	2.816000	0.96949	0.561000	0.74099	GAG		0.577	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		5	40	0	0	0	0.000602	0	5	40				
CCNG2	901	broad.mit.edu	37	4	78081923	78081923	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:78081923C>T	ENST00000316355.5	+	4	682	c.326C>T	c.(325-327)gCt>gTt	p.A109V	CCNG2_ENST00000502280.1_Missense_Mutation_p.A109V|CCNG2_ENST00000395640.1_Missense_Mutation_p.A109V|CCNG2_ENST00000354403.5_Missense_Mutation_p.A109V|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000509972.1_Missense_Mutation_p.A109V	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	109					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTTTGCTGGCTGCTAGAATA	0.383																																						ENST00000316355.5																			0				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(325-327)gCt>gTt		cyclin G2							112.0	116.0	115.0					4																	78081923		2202	4300	6502	SO:0001583	missense	901				cell cycle checkpoint|cell division|mitosis	cytoplasm		g.chr4:78081923C>T	BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.326C>T	4.37:g.78081923C>T	ENSP00000315743:p.Ala109Val					CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000395640.1_Missense_Mutation_p.A109V|CCNG2_ENST00000354403.5_Missense_Mutation_p.A109V|CCNG2_ENST00000509972.1_Missense_Mutation_p.A109V|CCNG2_ENST00000502280.1_Missense_Mutation_p.A109V	p.A109V	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN			4	682	+			109					B4DF25|Q6FGA7|Q6FGC6	Missense_Mutation	SNP	ENST00000316355.5	37	c.326C>T	CCDS3581.1	.	.	.	.	.	.	.	.	.	.	C	35	5.566122	0.96540	.	.	ENSG00000138764	ENST00000316355;ENST00000354403;ENST00000502280;ENST00000395640;ENST00000512918;ENST00000509972	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	5.81	5.81	0.92471	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.77116	0.4083	M	0.91612	3.225	0.80722	D	1	D;D	0.76494	0.999;0.967	D;P	0.79108	0.992;0.811	T	0.81516	-0.0897	10	0.87932	D	0	-20.3634	20.0832	0.97789	0.0:1.0:0.0:0.0	.	109;109	B4DF25;Q16589	.;CCNG2_HUMAN	V	109	ENSP00000315743:A109V;ENSP00000346379:A109V;ENSP00000424665:A109V;ENSP00000379002:A109V;ENSP00000426085:A109V;ENSP00000426476:A109V	ENSP00000315743:A109V	A	+	2	0	CCNG2	78300947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.480000	0.81109	2.751000	0.94390	0.650000	0.86243	GCT		0.383	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	NM_004354		40	78	0	0	0	0.007835	0	40	78				
RADIL	55698	broad.mit.edu	37	7	4862158	4862158	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:4862158G>A	ENST00000399583.3	-	6	1669	c.1482C>T	c.(1480-1482)tgC>tgT	p.C494C	RADIL_ENST00000538469.1_Silent_p.C254C|RADIL_ENST00000536091.1_Intron	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	494					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CAGCCATGGCGCAGCTGGCCA	0.532																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1480-1482)tgC>tgT		Ras association and DIL domains							50.0	59.0	56.0					7																	4862158		2002	4160	6162	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4862158G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1482C>T	7.37:g.4862158G>A						RADIL_ENST00000536091.1_Intron|RADIL_ENST00000538469.1_Silent_p.C254C	p.C494C	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	6	1669	-		Ovarian(82;0.0175)	494					A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.1482C>T	CCDS43544.1																																																																																				0.532	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		18	28	0	0	0	0.007413	0	18	28				
NBEA	26960	broad.mit.edu	37	13	35517144	35517144	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:35517144C>G	ENST00000400445.3	+	1	721	c.187C>G	c.(187-189)Cct>Gct	p.P63A	NBEA_ENST00000310336.4_Missense_Mutation_p.P63A|NBEA_ENST00000540320.1_Missense_Mutation_p.P63A|NBEA_ENST00000379939.2_Missense_Mutation_p.P63A	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	63					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GATGATTAACCCTTCGGTGCC	0.652																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(187-189)Cct>Gct		neurobeachin							64.0	72.0	69.0					13																	35517144		2005	4170	6175	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35517144C>G	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.187C>G	13.37:g.35517144C>G	ENSP00000383295:p.Pro63Ala					NBEA_ENST00000400445.3_Missense_Mutation_p.P63A|NBEA_ENST00000379939.2_Missense_Mutation_p.P63A|NBEA_ENST00000310336.4_Missense_Mutation_p.P63A	p.P63A			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	1	721	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	63					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.187C>G	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864027	0.71949	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.57436	0.4;0.41;0.41;0.4	4.3	3.44	0.39384	.	0.000000	0.56097	U	0.000030	T	0.67878	0.2940	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.67007	-0.5779	10	0.45353	T	0.12	.	11.0069	0.47639	0.0:0.9066:0.0:0.0934	.	63	Q5T321	.	A	63	ENSP00000440951:P63A;ENSP00000383295:P63A;ENSP00000369271:P63A;ENSP00000308534:P63A	ENSP00000308534:P63A	P	+	1	0	NBEA	34415144	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.024000	0.76443	0.792000	0.33850	0.561000	0.74099	CCT		0.652	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		9	16	0	0	0	0.004482	0	9	16				
SLCO4C1	353189	broad.mit.edu	37	5	101572684	101572684	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:101572684A>G	ENST00000310954.6	-	13	2339	c.2053T>C	c.(2053-2055)Ttt>Ctt	p.F685L		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AAGATTGCAAATCCATTGAAG	0.308																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(2053-2055)Ttt>Ctt		solute carrier organic anion transporter family, member 4C1							97.0	91.0	93.0					5																	101572684		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101572684A>G	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.2053T>C	5.37:g.101572684A>G	ENSP00000309741:p.Phe685Leu						p.F685L	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	13	2339	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	685						Missense_Mutation	SNP	ENST00000310954.6	37	c.2053T>C	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	A	2.199	-0.383349	0.04966	.	.	ENSG00000173930	ENST00000310954	T	0.33654	1.4	5.29	1.49	0.22878	Major facilitator superfamily domain (1);	1.265160	0.05468	N	0.552566	T	0.15522	0.0374	N	0.04090	-0.28	0.22888	N	0.998609	B	0.02656	0.0	B	0.01281	0.0	T	0.21280	-1.0250	10	0.02654	T	1	.	7.2513	0.26150	0.3755:0.0:0.6245:0.0	.	685	Q6ZQN7	SO4C1_HUMAN	L	685	ENSP00000309741:F685L	ENSP00000309741:F685L	F	-	1	0	SLCO4C1	101600583	0.023000	0.18921	0.954000	0.39281	0.835000	0.47333	0.114000	0.15520	-0.019000	0.14055	-0.912000	0.02778	TTT		0.308	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		13	10	0	0	0	0.002450	0	13	10				
ARHGAP18	93663	broad.mit.edu	37	6	129950552	129950552	+	Silent	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:129950552T>C	ENST00000368149.2	-	5	820	c.732A>G	c.(730-732)aaA>aaG	p.K244K		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TGGAGCTCTCTTTCTGATTGA	0.438																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(730-732)aaA>aaG		Rho GTPase activating protein 18							134.0	135.0	135.0					6																	129950552		2203	4300	6503	SO:0001819	synonymous_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129950552T>C	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.732A>G	6.37:g.129950552T>C							p.K244K	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	5	820	-			244						Silent	SNP	ENST00000368149.2	37	c.732A>G	CCDS34535.1																																																																																				0.438	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		20	72	0	0	0	0.002780	0	20	72				
MUC16	94025	broad.mit.edu	37	19	9049324	9049324	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:9049324G>A	ENST00000397910.4	-	5	32510	c.32307C>T	c.(32305-32307)gtC>gtT	p.V10769V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10771	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGATGGGTGACTAATGAGG	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(32305-32307)gtC>gtT		mucin 16, cell surface associated							136.0	126.0	130.0					19																	9049324		1968	4152	6120	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049324G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32307C>T	19.37:g.9049324G>A							p.V10769V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	32510	-			10771			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.32307C>T	CCDS54212.1																																																																																				0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	97	0	0	0	0.003163	0	14	97				
MYO5C	55930	broad.mit.edu	37	15	52531989	52531989	+	Missense_Mutation	SNP	C	C	A	rs267604253		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:52531989C>A	ENST00000261839.7	-	21	2805	c.2644G>T	c.(2644-2646)Gtg>Ttg	p.V882L	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	882	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ATATTAAGCACGAATCGTCGG	0.438																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(2644-2646)Gtg>Ttg		myosin VC							81.0	76.0	78.0					15																	52531989		1962	4155	6117	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52531989C>A	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.2644G>T	15.37:g.52531989C>A	ENSP00000261839:p.Val882Leu					MYO5C_ENST00000443683.2_Intron	p.V882L	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	21	2805	-			882			IQ 5.		Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.2644G>T	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798255	0.50208	.	.	ENSG00000128833	ENST00000261839	T	0.73363	-0.74	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	L	0.40543	1.245	0.80722	D	1	B	0.30021	0.265	B	0.23852	0.049	T	0.63976	-0.6515	10	0.32370	T	0.25	.	18.8578	0.92260	0.0:1.0:0.0:0.0	.	882	Q9NQX4	MYO5C_HUMAN	L	882	ENSP00000261839:V882L	ENSP00000261839:V882L	V	-	1	0	MYO5C	50319281	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	5.743000	0.68655	2.544000	0.85801	0.650000	0.86243	GTG		0.438	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		13	60	1	0	2.27111e-07	0.001368	2.56768e-07	13	60				
CDH18	1016	broad.mit.edu	37	5	19747278	19747278	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:19747278G>A	ENST00000507958.1	-	6	1286	c.296C>T	c.(295-297)aCt>aTt	p.T99I	CDH18_ENST00000506372.1_Missense_Mutation_p.T99I|CDH18_ENST00000502796.1_Missense_Mutation_p.T99I|CDH18_ENST00000274170.4_Missense_Mutation_p.T99I|CDH18_ENST00000511273.1_Missense_Mutation_p.T99I|CDH18_ENST00000382275.1_Missense_Mutation_p.T99I			Q13634	CAD18_HUMAN	cadherin 18, type 2	99	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GATAAATATAGTCCCAGCACC	0.418																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(295-297)aCt>aTt		cadherin 18, type 2							169.0	152.0	157.0					5																	19747278		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19747278G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.296C>T	5.37:g.19747278G>A	ENSP00000425093:p.Thr99Ile					CDH18_ENST00000502796.1_Missense_Mutation_p.T99I|CDH18_ENST00000382275.1_Missense_Mutation_p.T99I|CDH18_ENST00000506372.1_Missense_Mutation_p.T99I|CDH18_ENST00000511273.1_Missense_Mutation_p.T99I|CDH18_ENST00000274170.4_Missense_Mutation_p.T99I	p.T99I			Q13634	CAD18_HUMAN			6	1286	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		99			Cadherin 1.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.296C>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636588	0.67130	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11	5.34	5.34	0.76211	Cadherin (5);Cadherin-like (1);	0.049137	0.85682	D	0.000000	T	0.79137	0.4395	M	0.90595	3.13	0.47778	D	0.999511	D;B	0.63880	0.993;0.055	P;B	0.61592	0.891;0.041	D	0.83473	0.0060	9	.	.	.	.	17.6173	0.88071	0.0:0.0:1.0:0.0	.	99;99	B4DHG6;Q13634	.;CAD18_HUMAN	I	99;99;99;99;99;99;45;99	ENSP00000371710:T99I;ENSP00000425093:T99I;ENSP00000274170:T99I;ENSP00000424931:T99I;ENSP00000422138:T99I;ENSP00000427383:T45I;ENSP00000425854:T99I	.	T	-	2	0	CDH18	19783035	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.125000	0.71627	2.501000	0.84356	0.591000	0.81541	ACT		0.418	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		41	51	0	0	0	0.006230	0	41	51				
SYNE2	23224	broad.mit.edu	37	14	64596835	64596835	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:64596835G>A	ENST00000344113.4	+	76	14421	c.14209G>A	c.(14209-14211)Gag>Aag	p.E4737K	SYNE2_ENST00000357395.3_Missense_Mutation_p.E1122K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.E1371K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E1122K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4737K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4654K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4737					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTCGTCACTGAGAGCCAGCA	0.468																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(3364-3366)Gag>Aag		spectrin repeat containing, nuclear envelope 2							102.0	88.0	93.0					14																	64596835		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64596835G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14209G>A	14.37:g.64596835G>A	ENSP00000341781:p.Glu4737Lys					SYNE2_ENST00000344113.4_Missense_Mutation_p.E4737K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E1122K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E1371K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4654K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4737K	p.E1122K			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	77	14508	+			4737					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.3364G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326235	0.24080	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.54279	1.04;4.36;1.03;0.58;4.42;4.36	5.82	3.96	0.45880	.	0.109397	0.39759	N	0.001267	T	0.31979	0.0814	N	0.16098	0.37	0.80722	D	1	B;B;B	0.23249	0.002;0.004;0.082	B;B;B	0.26202	0.008;0.013;0.067	T	0.06144	-1.0843	10	0.21540	T	0.41	.	7.6612	0.28404	0.1417:0.1361:0.7222:0.0	.	1122;4737;4737	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	K	4737;1122;4737;4654;4654;1371;1122	ENSP00000350719:E4737K;ENSP00000349969:E1122K;ENSP00000341781:E4737K;ENSP00000452570:E4654K;ENSP00000450831:E1371K;ENSP00000378249:E1122K	ENSP00000261678:E4654K	E	+	1	0	SYNE2	63666588	0.802000	0.28943	0.689000	0.30133	0.270000	0.26580	1.072000	0.30678	0.770000	0.33336	0.655000	0.94253	GAG		0.468	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		4	32	0	0	0	0.009096	0	4	32				
MYO16	23026	broad.mit.edu	37	13	109438041	109438041	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:109438041T>C	ENST00000357550.2	+	4	541	c.500T>C	c.(499-501)gTa>gCa	p.V167A	MYO16_ENST00000251041.5_Missense_Mutation_p.V167A|MYO16_ENST00000356711.2_Missense_Mutation_p.V167A|MYO16_ENST00000467639.1_3'UTR	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GATTATGCTGTAGAAGGGACA	0.343																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(499-501)gTa>gCa		myosin XVI							87.0	82.0	84.0					13																	109438041		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109438041T>C		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.500T>C	13.37:g.109438041T>C	ENSP00000350160:p.Val167Ala					MYO16_ENST00000251041.5_Missense_Mutation_p.V167A|MYO16_ENST00000357550.2_Missense_Mutation_p.V167A|MYO16_ENST00000467639.1_3'UTR	p.V167A	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		5	626	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		167						Missense_Mutation	SNP	ENST00000357550.2	37	c.500T>C	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	T	4.842	0.156600	0.09236	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.47528	0.84;0.84;0.84	5.18	2.77	0.32553	Ankyrin repeat-containing domain (3);	0.517391	0.13916	U	0.353869	T	0.22166	0.0534	N	0.03983	-0.305	0.09310	N	1	B;B	0.19331	0.001;0.035	B;B	0.23574	0.004;0.047	T	0.27331	-1.0077	9	.	.	.	.	7.4162	0.27047	0.0:0.1879:0.0:0.8121	.	167;167	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	A	167	ENSP00000349145:V167A;ENSP00000350160:V167A;ENSP00000251041:V167A	.	V	+	2	0	MYO16	108236042	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.546000	0.23284	0.308000	0.22923	0.533000	0.62120	GTA		0.343	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		21	24	0	0	0	0.003330	0	21	24				
SERPINC1	462	broad.mit.edu	37	1	173878987	173878987	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:173878987G>T	ENST00000367698.3	-	5	974	c.856C>A	c.(856-858)Cag>Aag	p.Q286K	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	286			Missing (in AT3D; type-I). {ECO:0000269|PubMed:7878627}.		blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	TTGCCTTCCTGGTACATCATA	0.522																																						ENST00000367698.3																			0				NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25						c.(856-858)Cag>Aag		serpin peptidase inhibitor, clade C (antithrombin), member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						101.0	86.0	91.0					1																	173878987		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173878987G>T	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.856C>A	1.37:g.173878987G>T	ENSP00000356671:p.Gln286Lys						p.Q286K	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN			5	974	-			286		Missing (in AT3D; type-I).			B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.856C>A	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073743	0.94000	.	.	ENSG00000117601	ENST00000367698	D	0.84516	-1.86	5.45	5.45	0.79879	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.88800	0.6535	L	0.56199	1.76	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.87059	0.2152	10	0.38643	T	0.18	.	18.8947	0.92419	0.0:0.0:1.0:0.0	.	286	P01008	ANT3_HUMAN	K	286	ENSP00000356671:Q286K	ENSP00000356671:Q286K	Q	-	1	0	SERPINC1	172145610	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.470000	0.80973	2.555000	0.86185	0.655000	0.94253	CAG		0.522	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		13	65	1	0	2.27111e-07	0.001368	2.56768e-07	13	65				
MUSK	4593	broad.mit.edu	37	9	113538912	113538912	+	Splice_Site	SNP	A	A	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:113538912A>C	ENST00000374448.4	+	11	1495	c.1361A>C	c.(1360-1362)gAt>gCt	p.D454A	MUSK_ENST00000416899.2_Intron|MUSK_ENST00000189978.5_Splice_Site_p.D454A|MUSK_ENST00000374438.1_Intron	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	454					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCCCCTTCAGATTATAACAAA	0.338																																						ENST00000189978.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.e10-1		muscle, skeletal, receptor tyrosine kinase							118.0	122.0	121.0					9																	113538912		1820	4082	5902	SO:0001630	splice_region_variant	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113538912A>C	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1361-1A>C	9.37:g.113538912A>C						MUSK_ENST00000374438.1_Intron|MUSK_ENST00000416899.2_Intron|MUSK_ENST00000374448.4_Splice_Site_p.D454_splice	p.D454_splice			O15146	MUSK_HUMAN			10	1495	+			454					Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Splice_Site	SNP	ENST00000374448.4	37	c.1360_splice	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	A	6.977	0.550301	0.13374	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335	T	0.74315	-0.83	5.86	5.86	0.93980	.	0.196874	0.52532	D	0.000064	T	0.64000	0.2559	L	0.38175	1.15	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.58707	-0.7589	9	.	.	.	.	12.6348	0.56677	1.0:0.0:0.0:0.0	.	454	O15146	MUSK_HUMAN	A	460;454;454	ENSP00000363571:D454A	.	D	+	2	0	MUSK	112578733	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.958000	0.63660	2.238000	0.73509	0.533000	0.62120	GAT		0.338	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Missense_Mutation	18	56	0	0	0	0.010504	0	18	56				
NTN3	4917	broad.mit.edu	37	16	2522335	2522335	+	Silent	SNP	C	C	G	rs540014287	byFrequency	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:2522335C>G	ENST00000293973.1	+	1	836	c.633C>G	c.(631-633)ctC>ctG	p.L211L	TBC1D24_ENST00000293970.5_5'Flank|TBC1D24_ENST00000567020.1_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	211	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GCCCAGTGCTCCAAGACTGGG	0.672																																						ENST00000293973.1																			0				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						c.(631-633)ctC>ctG		netrin 3							24.0	24.0	24.0					16																	2522335		2193	4294	6487	SO:0001819	synonymous_variant	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2522335C>G	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.633C>G	16.37:g.2522335C>G							p.L211L	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN			1	836	+			211			Laminin N-terminal.			Silent	SNP	ENST00000293973.1	37	c.633C>G	CCDS10469.1																																																																																				0.672	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		4	22	0	0	0	0.009096	0	4	22				
CNOT1	23019	broad.mit.edu	37	16	58589282	58589282	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:58589282C>T	ENST00000317147.5	-	21	3096	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.E917K|CNOT1_ENST00000441024.2_Missense_Mutation_p.E922K	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	922	Interaction with ZFP36.			E -> G (in Ref. 1; ABQ66268). {ECO:0000305}.	gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGTCCTTTCTCAATTATACCA	0.388																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(2764-2766)Gag>Aag		CCR4-NOT transcription complex, subunit 1							184.0	168.0	173.0					16																	58589282		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58589282C>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2764G>A	16.37:g.58589282C>T	ENSP00000320949:p.Glu922Lys					CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.E917K|CNOT1_ENST00000441024.2_Missense_Mutation_p.E922K	p.E922K	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	21	3096	-			922	E -> G (in Ref. 1; ABQ66268).				Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.2764G>A	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	30	5.051613	0.93793	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.43294	0.99;0.95	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	L	0.37466	1.105	0.80722	D	1	D;D;P	0.62365	0.974;0.991;0.553	D;P;B	0.70487	0.969;0.73;0.426	T	0.30357	-0.9981	10	0.13853	T	0.58	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	922;922;917	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	K	922;351;917;922	ENSP00000320949:E922K;ENSP00000413113:E922K	ENSP00000320949:E922K	E	-	1	0	CNOT1	57146783	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.776000	0.85560	2.880000	0.98712	0.650000	0.86243	GAG		0.388	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		28	90	0	0	0	0.006320	0	28	90				
CD109	135228	broad.mit.edu	37	6	74477802	74477802	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:74477802G>T	ENST00000287097.5	+	14	1634	c.1522G>T	c.(1522-1524)Gct>Tct	p.A508S	CD109_ENST00000437994.2_Missense_Mutation_p.A508S|CD109_ENST00000422508.2_Missense_Mutation_p.A431S			Q6YHK3	CD109_HUMAN	CD109 molecule	508					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.A508T(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAGTTGGTGGCTGTAGGAAA	0.363																																						ENST00000437994.2																			1	Substitution - Missense(1)	p.A508T(1)	large_intestine(1)	NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1522-1524)Gct>Tct		CD109 molecule							95.0	101.0	99.0					6																	74477802		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74477802G>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1522G>T	6.37:g.74477802G>T	ENSP00000287097:p.Ala508Ser					CD109_ENST00000422508.2_Missense_Mutation_p.A431S|CD109_ENST00000287097.5_Missense_Mutation_p.A508S	p.A508S	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			14	1953	+			508					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.1522G>T	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544037	0.65198	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.62232	0.04;0.04;0.04	4.61	3.71	0.42584	Alpha-2-macroglobulin, N-terminal 2 (1);	0.362609	0.29145	N	0.013015	T	0.37999	0.1024	N	0.25890	0.77	0.32834	D	0.504376	P;P;B;B	0.48230	0.811;0.907;0.257;0.213	B;P;B;B	0.50490	0.332;0.642;0.113;0.262	T	0.21690	-1.0238	10	0.11182	T	0.66	.	13.0694	0.59053	0.0:0.0:0.8376:0.1624	.	431;508;508;508	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	S	508;431;508	ENSP00000388062:A508S;ENSP00000404475:A431S;ENSP00000287097:A508S	ENSP00000287097:A508S	A	+	1	0	CD109	74534523	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.051000	0.41307	1.253000	0.44018	0.313000	0.20887	GCT		0.363	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		17	38	1	0	2.23348e-06	0.004007	2.46583e-06	17	38				
PTF1A	256297	broad.mit.edu	37	10	23481462	23481462	+	Start_Codon_SNP	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:23481462G>C	ENST00000376504.3	+	1	207	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	1					amacrine cell differentiation (GO:0035881)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|exocrine pancreas development (GO:0031017)|neuron fate commitment (GO:0048663)|pancreas development (GO:0031016)|regulation of neural retina development (GO:0061074)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|retinoic acid receptor signaling pathway (GO:0048384)|tissue development (GO:0009888)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|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 (GO:0043565)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CGGCGAGCATGGACGCGGTGT	0.657																																						ENST00000376504.3																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						c.(1-3)atG>atC		pancreas specific transcription factor, 1a							42.0	42.0	42.0					10																	23481462		2203	4300	6503	SO:0001582	initiator_codon_variant	256297				endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex		g.chr10:23481462G>C	BK000272	CCDS7143.1	10p12.31	2013-05-21			ENSG00000168267	ENSG00000168267		"""Basic helix-loop-helix proteins"""	23734	protein-coding gene	gene with protein product		607194				8703005	Standard	NM_178161		Approved	PTF1-p48, bHLHa29	uc001irp.3	Q7RTS3	OTTHUMG00000017815	ENST00000376504.3:c.3G>C	10.37:g.23481462G>C	ENSP00000365687:p.Met1Ile						p.M1I	NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN			1	207	+			1					Q9HC25	Translation_Start_Site	SNP	ENST00000376504.3	37	c.3G>C	CCDS7143.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328282	0.41197	.	.	ENSG00000168267	ENST00000376504	D	0.95205	-3.64	2.96	2.96	0.34315	.	0.000000	0.85682	U	0.000000	D	0.96137	0.8741	.	.	.	0.80722	D	1	P	0.49447	0.924	P	0.57776	0.827	D	0.96578	0.9428	9	0.87932	D	0	-20.2831	13.6355	0.62221	0.0:0.0:1.0:0.0	.	1	Q7RTS3	PTF1A_HUMAN	I	1	ENSP00000365687:M1I	ENSP00000365687:M1I	M	+	3	0	PTF1A	23521468	1.000000	0.71417	0.995000	0.50966	0.336000	0.28762	4.835000	0.62781	1.490000	0.48466	0.313000	0.20887	ATG		0.657	PTF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047210.1	NM_178161	Missense_Mutation	8	35	0	0	0	0.003080	0	8	35				
TPM3P9	147804	broad.mit.edu	37	19	53950475	53950475	+	RNA	SNP	G	G	T	rs8111707	byFrequency	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:53950475G>T	ENST00000424846.3	+	0	2920				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		CTCTTGGTACGTGAGGAAGAA	0.438													g|||	707	0.141174	0.1074	0.1787	5008	,	,		21859	0.0585		0.2584	False		,,,				2504	0.1247					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761		G		223,1529		13,197,666	98.0	94.0	95.0			-1.0	0.0	19	dbSNP_116	95	1026,2956		131,764,1096	no	utr-5	ZNF761	NM_001008401.3		144,961,1762	TT,TG,GG		25.7659,12.7283,21.7824			53950475	1249,4485	876	1991	2867			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53950475G>T			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53950475G>T										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	407	+									RNA	SNP	ENST00000424846.3	37																																																																																						0.438	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		3	45	1	0	0.004672	0.004672	0.00489518	3	45				
SLC24A2	25769	broad.mit.edu	37	9	19786060	19786060	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:19786060G>A	ENST00000341998.2	-	1	866	c.805C>T	c.(805-807)Ctc>Ttc	p.L269F	SLC24A2_ENST00000286344.3_Missense_Mutation_p.L269F	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	269					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GCTGTTAAGAGAAGCAAGCTT	0.393																																						ENST00000341998.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(805-807)Ctc>Ttc		solute carrier family 24 (sodium/potassium/calcium exchanger), member 2							128.0	120.0	123.0					9																	19786060		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19786060G>A	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.805C>T	9.37:g.19786060G>A	ENSP00000344801:p.Leu269Phe					SLC24A2_ENST00000286344.3_Missense_Mutation_p.L269F	p.L269F	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	1	866	-			269					B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.805C>T	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498249	0.64186	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.69435	-0.4;-0.4	5.91	5.0	0.66597	Sodium/calcium exchanger membrane region (1);	0.061993	0.64402	D	0.000003	T	0.80523	0.4639	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.988;0.998	T	0.80901	-0.1175	9	.	.	.	.	17.0662	0.86559	0.0:0.1271:0.8729:0.0	.	269;269	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	F	269	ENSP00000344801:L269F;ENSP00000286344:L269F	.	L	-	1	0	SLC24A2	19776060	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.670000	0.74467	1.477000	0.48234	0.655000	0.94253	CTC		0.393	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		14	39	0	0	0	0.002450	0	14	39				
MALAT1	378938	broad.mit.edu	37	11	65266459	65266459	+	lincRNA	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:65266459T>A	ENST00000534336.1	+	0	1227				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GGTGATCGAATTCCGGTGATG	0.498																																						ENST00000534336.1																			0																				141.0	142.0	141.0					11																	65266459		874	1988	2862			378938							g.chr11:65266459T>A	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266459T>A								NR_002819.2						0	1227	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.498	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		44	37	0	0	0	0.013114	0	44	37				
GRAMD1A	57655	broad.mit.edu	37	19	35516979	35516979	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:35516979C>T	ENST00000317991.5	+	20	2301	c.2109C>T	c.(2107-2109)caC>caT	p.H703H	CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000599564.1_Silent_p.H786H|GRAMD1A_ENST00000504615.2_Silent_p.H465H|GRAMD1A_ENST00000411896.2_Silent_p.H692H	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	703						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGAAGCTGCACCAAGGCATCA	0.647																																						ENST00000599564.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(2356-2358)caC>caT		GRAM domain containing 1A							73.0	83.0	80.0					19																	35516979		2086	4212	6298	SO:0001819	synonymous_variant	57655					integral to membrane		g.chr19:35516979C>T	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.2109C>T	19.37:g.35516979C>T						GRAMD1A_ENST00000317991.5_Silent_p.H703H|GRAMD1A_ENST00000411896.2_Silent_p.H692H|GRAMD1A_ENST00000504615.2_Silent_p.H465H	p.H786H			Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		20	2429	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		703					A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	37	c.2358C>T	CCDS42546.1																																																																																				0.647	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		7	25	0	0	0	0.004482	0	7	25				
AP5M1	55745	broad.mit.edu	37	14	57749862	57749862	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:57749862C>T	ENST00000261558.3	+	6	1613	c.1207C>T	c.(1207-1209)Ctt>Ttt	p.L403F	AP5M1_ENST00000556723.1_3'UTR|AP5M1_ENST00000431972.2_Missense_Mutation_p.L417F	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	403	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											GGAAATTAGTCTTTCTGGAAC	0.318																																						ENST00000261558.3																			0											c.(1207-1209)Ctt>Ttt		adaptor-related protein complex 5, mu 1 subunit							78.0	79.0	79.0					14																	57749862		2203	4300	6503	SO:0001583	missense	55745				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		g.chr14:57749862C>T	AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.1207C>T	14.37:g.57749862C>T	ENSP00000261558:p.Leu403Phe					AP5M1_ENST00000431972.2_Missense_Mutation_p.L417F|AP5M1_ENST00000556723.1_3'UTR	p.L403F	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN			6	1613	+			403			MHD.		O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	37	c.1207C>T	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354541	0.82243	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.26373	1.74;1.74	5.96	5.96	0.96718	Clathrin adaptor, mu subunit, C-terminal (3);	0.162426	0.53938	D	0.000045	T	0.46600	0.1401	L	0.58428	1.81	0.54753	D	0.999981	D	0.89917	1.0	D	0.80764	0.994	T	0.26950	-1.0088	10	0.52906	T	0.07	.	13.5737	0.61862	0.0:0.9293:0.0:0.0707	.	403	Q9H0R1	MUDEN_HUMAN	F	403;417	ENSP00000261558:L403F;ENSP00000390531:L417F	ENSP00000261558:L403F	L	+	1	0	MUDENG	56819615	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.857000	0.39399	2.813000	0.96785	0.655000	0.94253	CTT		0.318	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229		8	39	0	0	0	0.004482	0	8	39				
CALCR	799	broad.mit.edu	37	7	93073008	93073008	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:93073008A>G	ENST00000394441.1	-	8	1025	c.710T>C	c.(709-711)aTg>aCg	p.M237T	CALCR_ENST00000360249.4_Missense_Mutation_p.M253T|CALCR_ENST00000421592.1_Missense_Mutation_p.M253T|CALCR_ENST00000426151.1_Missense_Mutation_p.M237T|CALCR_ENST00000359558.2_Missense_Mutation_p.M271T	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	271					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TTCACAGAGCATCCAGAAATA	0.443																																						ENST00000359558.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(811-813)aTg>aCg		calcitonin receptor	Salmon Calcitonin(DB00017)						142.0	133.0	136.0					7																	93073008		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93073008A>G	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.710T>C	7.37:g.93073008A>G	ENSP00000377959:p.Met237Thr					CALCR_ENST00000426151.1_Missense_Mutation_p.M237T|CALCR_ENST00000421592.1_Missense_Mutation_p.M253T|CALCR_ENST00000360249.4_Missense_Mutation_p.M253T|CALCR_ENST00000394441.1_Missense_Mutation_p.M237T	p.M271T	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		11	1111	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		253					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.812T>C	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.144025	0.77888	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	4.94	4.94	0.65067	.	.	.	.	.	T	0.75466	0.3853	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82460	-0.0446	9	0.87932	D	0	.	15.0839	0.72135	1.0:0.0:0.0:0.0	.	271;237	F5H605;A4D1G6	.;.	T	271;253;253;237;237	ENSP00000352561:M271T;ENSP00000353385:M253T;ENSP00000399552:M253T;ENSP00000377959:M237T;ENSP00000389295:M237T	ENSP00000352561:M271T	M	-	2	0	CALCR	92910944	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.139000	0.94554	2.223000	0.72356	0.455000	0.32223	ATG		0.443	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		27	71	0	0	0	0.008361	0	27	71				
RELB	5971	broad.mit.edu	37	19	45540982	45540982	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:45540982C>T	ENST00000221452.8	+	12	1824	c.1674C>T	c.(1672-1674)ttC>ttT	p.F558F	CLASRP_ENST00000391953.4_5'Flank|RELB_ENST00000540120.1_Silent_p.F558F|RELB_ENST00000505236.1_Silent_p.F555F|CLASRP_ENST00000544944.2_5'Flank|CLASRP_ENST00000221455.3_5'Flank	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	558					antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCAACATGTTCCCCAATCATT	0.697																																						ENST00000221452.8																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12						c.(1672-1674)ttC>ttT		v-rel avian reticuloendotheliosis viral oncogene homolog B							24.0	27.0	26.0					19																	45540982		1895	4116	6011	SO:0001819	synonymous_variant	5971					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:45540982C>T	M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.1674C>T	19.37:g.45540982C>T						RELB_ENST00000540120.1_Silent_p.F558F|RELB_ENST00000505236.1_Silent_p.F555F	p.F558F	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00986)	12	1824	+		Ovarian(192;0.0728)|all_neural(266;0.112)	558					Q6GTX7|Q9UEI7	Silent	SNP	ENST00000221452.8	37	c.1674C>T	CCDS46110.1																																																																																				0.697	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			5	33	0	0	0	0.001168	0	5	33				
LRRC66	339977	broad.mit.edu	37	4	52861475	52861475	+	Silent	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:52861475A>G	ENST00000343457.3	-	4	1719	c.1713T>C	c.(1711-1713)taT>taC	p.Y571Y		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	571						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CATTGGAATCATAACGGCTTG	0.498																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(1711-1713)taT>taC		leucine rich repeat containing 66							104.0	114.0	111.0					4																	52861475		2163	4291	6454	SO:0001819	synonymous_variant	339977					integral to membrane		g.chr4:52861475A>G	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1713T>C	4.37:g.52861475A>G							p.Y571Y	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	1719	-			571						Silent	SNP	ENST00000343457.3	37	c.1713T>C	CCDS43229.1																																																																																				0.498	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		23	92	0	0	0	0.002299	0	23	92				
CDK11A	728642	broad.mit.edu	37	1	1650883	1650885	+	In_Frame_Del	DEL	TCT	TCT	-	rs201091435	byFrequency	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:1650883_1650885delTCT	ENST00000378633.1	-	4	316_318	c.237_239delAGA	c.(235-240)gaagat>gat	p.E79del	CDK11A_ENST00000404249.3_In_Frame_Del_p.E79del|CDK11A_ENST00000356200.3_In_Frame_Del_p.E45del|CDK11A_ENST00000357760.2_In_Frame_Del_p.E79del|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378635.3_In_Frame_Del_p.E79del|CDK11A_ENST00000358779.5_In_Frame_Del_p.E79del|CDK11A_ENST00000378638.2_In_Frame_Del_p.E45del			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	79	Glu-rich.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CAAAGAATCATCTTCTTCTCCTC	0.394																																					Pancreas(186;965 2119 30274 40311 50569)	ENST00000356200.3																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						c.(133-138)gat>ga		cyclin-dependent kinase 11A																																				SO:0001651	inframe_deletion	728642							g.chr1:1650883_1650885delTCT	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.237_239delAGA	1.37:g.1650889_1650891delTCT	ENSP00000367900:p.Glu79del					CDK11A_ENST00000404249.3_In_Frame_Del_p.ED79del|CDK11A_ENST00000358779.5_In_Frame_Del_p.ED79del|CDK11A_ENST00000357760.2_In_Frame_Del_p.ED79del|CDK11A_ENST00000378635.3_In_Frame_Del_p.ED79del|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378633.1_In_Frame_Del_p.ED79del|CDK11A_ENST00000378638.2_In_Frame_Del_p.ED45del	p.ED45del							3	369_371	-								O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	In_Frame_Del	DEL	ENST00000378633.1	37	c.135_137delAGA																																																																																					0.394	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		30	286						30	286	---	---	---	---
ZNF436	80818	broad.mit.edu	37	1	23689135	23689136	+	Frame_Shift_Ins	INS	-	-	CA	rs183269369		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:23689135_23689136insCA	ENST00000314011.4	-	4	875_876	c.739_740insTG	c.(739-741)gagfs	p.E247fs	ZNF436_ENST00000374608.3_Frame_Shift_Ins_p.E247fs	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	247					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ATAGGGTTTCTCACCACTGTGG	0.5																																						ENST00000314011.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(739-741)gaafs		zinc finger protein 436																																				SO:0001589	frameshift_variant	80818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:23689135_23689136insCA	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.738_739dupTG	1.37:g.23689136_23689137dupCA	ENSP00000313582:p.Glu247fs					ZNF436_ENST00000374608.3_Frame_Shift_Ins_p.E247fs|ZNF436_ENST00000374609.1_Frame_Shift_Ins_p.E247fs	p.E247fs	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	4	875_876	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	247					Q658I9	Frame_Shift_Ins	INS	ENST00000314011.4	37	c.739_740insTG	CCDS233.1																																																																																				0.500	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		33	51						33	51	---	---	---	---
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA	rs370874670|rs375058001		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gtgatcfs	p.I320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545																																						ENST00000317450.3																			1	Insertion - Frameshift(1)	p.I320fs*1(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6						c.(955-960)gttcagfs		olfactory receptor, family 2, subfamily T, member 35																																				SO:0001589	frameshift_variant	403244				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248801602_248801603insCA	BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"""GPCR / Class A : Olfactory receptors"""	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.956_957dupTG	1.37:g.248801605_248801606dupCA	ENSP00000324369:p.Ile320fs						p.Q320fs	NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	956_957	-	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	320					Q6IEY7	Frame_Shift_Ins	INS	ENST00000317450.3	37	c.957_958insTG	CCDS31123.1																																																																																				0.545	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1	NM_001001827		4	9						4	9	---	---	---	---
IAH1	285148	broad.mit.edu	37	2	9624665	9624666	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:9624665_9624666insT	ENST00000497473.1	+	5	587_588	c.550_551insT	c.(550-552)atgfs	p.M184fs	IAH1_ENST00000470914.1_Frame_Shift_Ins_p.M71fs|IAH1_ENST00000482918.1_Frame_Shift_Ins_p.M71fs|IAH1_ENST00000545602.1_Frame_Shift_Ins_p.M71fs|IAH1_ENST00000489468.1_3'UTR	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	184					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGGACCCTGATGCAGGACAGC	0.515																																						ENST00000470914.1																			0				breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						c.(211-213)gcafs		isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	285148				lipid catabolic process		hydrolase activity, acting on ester bonds	g.chr2:9624665_9624666insT	BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330			27696	protein-coding gene	gene with protein product						12477932	Standard	XR_426950		Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000497473.1:c.551dupT	2.37:g.9624666_9624666dupT	ENSP00000417580:p.Met184fs					IAH1_ENST00000545602.1_Frame_Shift_Ins_p.A71fs|IAH1_ENST00000497473.1_Frame_Shift_Ins_p.A184fs|IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000482918.1_Frame_Shift_Ins_p.A71fs	p.A71fs			Q2TAA2	IAH1_HUMAN			4	527_528	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		184					B4DMV3	Frame_Shift_Ins	INS	ENST00000497473.1	37	c.211_212insT	CCDS42651.1																																																																																				0.515	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353192.1	NM_001039613		25	34						25	34	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32089442	32089443	+	Frame_Shift_Ins	INS	-	-	TCGT			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:32089442_32089443insTCGT	ENST00000438447.1	+	20	6276_6277	c.5888_5889insTCGT	c.(5887-5892)cctcttfs	p.L1964fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.L1964fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	1964					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGCAAGCCACCTCTTGCCACCT	0.604																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(5887-5889)cctfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089442_32089443insTCGT	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		Exception_encountered	5.37:g.32089442_32089443insTCGT	ENSP00000402033:p.Leu1964fs					PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.P1963fs	p.P1963fs			O15018	PDZD2_HUMAN			20	6276_6277	+			1963					Q9BXD4	Frame_Shift_Ins	INS	ENST00000438447.1	37	c.5888_5889insTCGT	CCDS34137.1																																																																																				0.604	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			27	93						27	93	---	---	---	---
PRPH2	5961	broad.mit.edu	37	6	42666201	42666202	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:42666201_42666202insT	ENST00000230381.5	-	3	1111_1112	c.872_873insA	c.(871-873)gatfs	p.D291fs		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	291					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGGACACACCATCCAGCGACGT	0.589																																						ENST00000230381.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(871-873)gggfs		peripherin 2 (retinal degeneration, slow)																																				SO:0001589	frameshift_variant	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42666201_42666202insT		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.873dupA	6.37:g.42666202_42666202dupT	ENSP00000230381:p.Asp291fs						p.G291fs	NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		3	1111_1112	-	Colorectal(47;0.196)		291					Q5TFH5|Q6DK65	Frame_Shift_Ins	INS	ENST00000230381.5	37	c.872_873insA	CCDS4871.1																																																																																				0.589	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		10	41						10	41	---	---	---	---
SPTBN2	6712	broad.mit.edu	37	11	66460538	66460557	+	Frame_Shift_Del	DEL	GCTTCTTCACCTCTGCCTGG	GCTTCTTCACCTCTGCCTGG	-	rs372264684		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:66460538_66460557delGCTTCTTCACCTCTGCCTGG	ENST00000533211.1	-	25	5200_5219	c.4869_4888delCCAGGCAGAGGTGAAGAAGC	c.(4867-4890)gcccaggcagaggtgaagaagcacfs	p.QAEVKKH1624fs	SPTBN2_ENST00000309996.2_Frame_Shift_Del_p.QAEVKKH1624fs|SPTBN2_ENST00000529997.1_Frame_Shift_Del_p.QAEVKKH1624fs			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1624					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AGCACCTGGTGCTTCTTCACCTCTGCCTGGGCACTCAGCT	0.632																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(4867-4890)gcacfs		spectrin, beta, non-erythrocytic 2																																				SO:0001589	frameshift_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66460538_66460557delGCTTCTTCACCTCTGCCTGG	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4869_4888delCCAGGCAGAGGTGAAGAAGC	11.37:g.66460538_66460557delGCTTCTTCACCTCTGCCTGG	ENSP00000432568:p.Gln1624fs					SPTBN2_ENST00000309996.2_Frame_Shift_Del_p.AQAEVKKH1623fs|SPTBN2_ENST00000529997.1_Frame_Shift_Del_p.AQAEVKKH1623fs	p.AQAEVKKH1623fs			O15020	SPTN2_HUMAN			25	5200_5219	-			1623					O14872|O14873	Frame_Shift_Del	DEL	ENST00000533211.1	37	c.4869_4888delCCAGGCAGAGGTGAAGAAGC	CCDS8150.1																																																																																				0.632	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		9	53						9	53	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49445184	49445184	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:49445184delA	ENST00000301067.7	-	10	2281	c.2282delT	c.(2281-2283)ctafs	p.L761fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	761	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CTGCGGAGATAGGTGTGGCTC	0.697																																						ENST00000301067.7																			0											c.(2281-2283)cafs		lysine (K)-specific methyltransferase 2D							18.0	20.0	20.0					12																	49445184		1766	3818	5584	SO:0001589	frameshift_variant	8085							g.chr12:49445184delA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2282delT	12.37:g.49445184delA	ENSP00000301067:p.Leu761fs						p.L761fs	NM_003482.3	NP_003473.3					10	2281	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.2282delT	CCDS44873.1																																																																																				0.697	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			9	39						9	39	---	---	---	---
ZNF174	7727	broad.mit.edu	37	16	3452111	3452111	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:3452111delA	ENST00000268655.4	+	1	692	c.107delA	c.(106-108)caafs	p.Q36fs	ZNF174_ENST00000571936.1_Frame_Shift_Del_p.Q36fs|ZNF174_ENST00000575752.1_Frame_Shift_Del_p.Q36fs|ZSCAN32_ENST00000573830.1_5'Flank|ZSCAN32_ENST00000396852.4_5'Flank|ZSCAN32_ENST00000422427.2_5'Flank|ZSCAN32_ENST00000439568.2_5'Flank|ZSCAN32_ENST00000304926.3_5'Flank|ZNF174_ENST00000344823.5_Frame_Shift_Del_p.Q36fs|ZNF174_ENST00000572544.1_Frame_Shift_Del_p.Q36fs	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	36					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CCTCCTCTGCAAAAAAACTGC	0.502																																						ENST00000268655.4																			0				endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						c.(106-108)cafs		zinc finger protein 174							146.0	165.0	159.0					16																	3452111		2197	4300	6497	SO:0001589	frameshift_variant	7727				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:3452111delA	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"""-"", ""Zinc fingers, C2H2-type"""	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.107delA	16.37:g.3452111delA	ENSP00000268655:p.Gln36fs					ZNF174_ENST00000571936.1_Frame_Shift_Del_p.Q36fs|ZNF174_ENST00000572544.1_Frame_Shift_Del_p.Q36fs|ZNF174_ENST00000575752.1_Frame_Shift_Del_p.Q36fs|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000344823.5_Frame_Shift_Del_p.Q36fs	p.Q36fs	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN			1	692	+			36					Q53Y68|Q9BQ34	Frame_Shift_Del	DEL	ENST00000268655.4	37	c.107delA	CCDS10504.1																																																																																				0.502	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	NM_003450		7	226						7	226	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577062	7577062	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:7577062delT	ENST00000269305.4	-	8	1065	c.876delA	c.(874-876)aaafs	p.K292fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.K292fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K292fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.K292fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.K292fs|TP53_ENST00000574684.1_5'Flank	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	292	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		K -> E (in sporadic cancers; somatic mutation).|K -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> I (in LFS; germline mutation and in a sporadic cancer; somatic mutation). {ECO:0000269|PubMed:10484981}.|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K291fs*48(8)|p.0?(8)|p.G293fs*13(3)|p.K292N(3)|p.?(2)|p.T284_G293del10(1)|p.L265_K305del41(1)|p.R290fs*12(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.K292K(1)|p.V272_K292del21(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)	GAGGCTCCCCTTTCTTGCGGA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		31	Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(3)|Insertion - Frameshift(3)|Substitution - Missense(3)|Unknown(2)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.K291fs*48(8)|p.0?(8)|p.G293fs*13(3)|p.K292N(3)|p.?(2)|p.T284_G293del10(1)|p.L265_K305del41(1)|p.R290fs*12(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.K292K(1)|p.V272_K292del21(1)	upper_aerodigestive_tract(12)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|breast(2)|salivary_gland(1)|stomach(1)|kidney(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(874-876)aafs	Other conserved DNA damage response genes	tumor protein p53							106.0	92.0	96.0					17																	7577062		2203	4300	6503	SO:0001589	frameshift_variant	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.chr17:7577062delT	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.876delA	17.37:g.7577062delT	ENSP00000269305:p.Lys292fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.K292fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K292fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K292fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.K292fs	p.K292fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1008	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	292		K -> E (in sporadic cancers; somatic mutation).|K -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> I (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.876delA	CCDS11118.1																																																																																				0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	20						22	20	---	---	---	---
IFNL2	282616	broad.mit.edu	37	19	39760455	39760455	+	Frame_Shift_Del	DEL	A	A	-	rs577518793	byFrequency	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:39760455delA	ENST00000331982.5	+	5	553	c.498delA	c.(496-498)ccafs	p.P166fs		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	166					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											AGGAGGCCCCAAAAAAGGTGA	0.677																																						ENST00000331982.5																			0											c.(496-498)ccfs		interferon, lambda 2							18.0	24.0	22.0					19																	39760455		2171	4273	6444	SO:0001589	frameshift_variant	282616							g.chr19:39760455delA	AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"""Interferons"""	18364	protein-coding gene	gene with protein product		607401	"""interleukin 28A"", ""interleukin 28A (interferon, lambda 2)"""	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.498delA	19.37:g.39760455delA	ENSP00000333639:p.Pro166fs						p.P166fs	NM_172138.1	NP_742150.1					5	553	+								Q45KQ8|Q6VN55|Q8IWL7	Frame_Shift_Del	DEL	ENST00000331982.5	37	c.498delA	CCDS42567.1																																																																																				0.677	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463833.1	NM_172138		15	27						15	27	---	---	---	---
FGF21	26291	broad.mit.edu	37	19	49260229	49260229	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:49260229delG	ENST00000593756.1	+	3	854	c.282delG	c.(280-282)ttgfs	p.L94fs	FUT1_ENST00000310160.3_5'Flank|FGF21_ENST00000222157.3_Frame_Shift_Del_p.L94fs			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	94					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTCAAATCTTGGGAGTCAAGA	0.577																																						ENST00000593756.1																			0				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.(280-282)ttfs		fibroblast growth factor 21							123.0	126.0	125.0					19																	49260229		2203	4300	6503	SO:0001589	frameshift_variant	26291				cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity	g.chr19:49260229delG	AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.282delG	19.37:g.49260229delG	ENSP00000471477:p.Leu94fs					FGF21_ENST00000222157.3_Frame_Shift_Del_p.L94fs	p.L94fs			Q9NSA1	FGF21_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	3	854	+		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	94					Q8N683	Frame_Shift_Del	DEL	ENST00000593756.1	37	c.282delG	CCDS12734.1																																																																																				0.577	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466200.1			30	130						30	130	---	---	---	---
