#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
ACAA1	30	broad.mit.edu	37	3	38180165	38180165	+	5'Flank	SNP	C	C	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:38180165C>A	ENST00000333167.8	-	0	0				MYD88_ENST00000396334.3_Missense_Mutation_p.R5S|MYD88_ENST00000443433.2_Missense_Mutation_p.R5S|ACAA1_ENST00000444607.2_5'Flank|ACAA1_ENST00000301810.7_5'Flank|MYD88_ENST00000424893.1_Missense_Mutation_p.R5S|MYD88_ENST00000495303.1_Missense_Mutation_p.R5S|ACAA1_ENST00000544624.1_5'Flank|ACAA1_ENST00000450296.1_5'Flank|MYD88_ENST00000417037.2_Missense_Mutation_p.R5S	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GCGACCCGACCGCGCTGAGGC	0.711																																						ENST00000417037.2										Mis							ABC-DLBCL		0				breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237						c.(13-15)Cgc>Agc		myeloid differentiation primary response 88							7.0	8.0	8.0					3																	38180165		1999	3990	5989	SO:0001631	upstream_gene_variant	4615				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity	g.chr3:38180165C>A	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38180165C>A	Exception_encountered					MYD88_ENST00000495303.1_Missense_Mutation_p.R5S|MYD88_ENST00000443433.2_Missense_Mutation_p.R5S|MYD88_ENST00000424893.1_Missense_Mutation_p.R5S|MYD88_ENST00000396334.3_Missense_Mutation_p.R5S	p.R5S	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	1	197	+			0					G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	37	c.13C>A	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	C	7.980	0.750910	0.15778	.	.	ENSG00000172936	ENST00000417037;ENST00000396334;ENST00000424893;ENST00000495303;ENST00000443433;ENST00000421516	T;T;T;T	0.10288	2.89;3.21;3.2;2.9	2.08	-4.16	0.03869	.	.	.	.	.	T	0.05364	0.0142	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32903	-0.9889	9	0.29301	T	0.29	.	2.7255	0.05212	0.1715:0.4667:0.2374:0.1243	.	5;5	B4DQ60;B4DQ72	.;.	S	5;5;5;5;5;4	ENSP00000401399:R5S;ENSP00000379625:R5S;ENSP00000389979:R5S;ENSP00000391753:R4S	ENSP00000379625:R5S	R	+	1	0	MYD88	38155169	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-5.320000	0.00131	-2.591000	0.00456	-0.457000	0.05445	CGC		0.711	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		4	9	1	0	0.150653	1	0.150653	4	9				
SNHG14	104472715	broad.mit.edu	37	15	25440101	25440101	+	RNA	SNP	A	A	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:25440101A>G	ENST00000424208.1	+	0	1460				SNORD115-14_ENST00000363090.1_RNA|SNORD115-15_ENST00000364809.1_RNA|SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTGTCTGAAGAGAGGTGATGA	0.507																																						ENST00000424208.1																			0																				375.0	383.0	380.0					15																	25440101		876	1991	2867			104472715							g.chr15:25440101A>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25440101A>G						SNHG14_ENST00000456576.1_RNA|SNORD115-14_ENST00000363090.1_RNA		NR_003305.1						0	1460	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.507	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			51	202	0	0	0	1	0	51	202				
KLHL1	57626	broad.mit.edu	37	13	70681435	70681435	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:70681435T>C	ENST00000377844.4	-	1	1156	c.397A>G	c.(397-399)Atg>Gtg	p.M133V	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_Start_Codon_SNP_p.M1V|ATXN8OS_ENST00000424524.1_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	133					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GGAAAGTCCATGCCTGGCACC	0.587																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(397-399)Atg>Gtg		kelch-like family member 1							110.0	88.0	95.0					13																	70681435		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681435T>C	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.397A>G	13.37:g.70681435T>C	ENSP00000367075:p.Met133Val					KLHL1_ENST00000545028.1_Start_Codon_SNP_p.M1V|ATXN8OS_ENST00000414504.2_RNA	p.M133V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	1156	-		Breast(118;0.000162)	133					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.397A>G	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.367233	0.41902	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.72051	-0.62;-0.47	5.5	4.33	0.51752	.	0.243956	0.30028	N	0.010596	T	0.49355	0.1552	N	0.22421	0.69	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.01281	0.0;0.0	T	0.38650	-0.9651	10	0.02654	T	1	.	9.1126	0.36737	0.0:0.0823:0.0:0.9177	.	133;133	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	V	133;1	ENSP00000367075:M133V;ENSP00000439602:M1V	ENSP00000367075:M133V	M	-	1	0	KLHL1	69579436	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.863000	0.39459	0.927000	0.37143	0.533000	0.62120	ATG		0.587	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		63	13	0	0	0	1	0	63	13				
ALDH1L1	10840	broad.mit.edu	37	3	125826019	125826019	+	Silent	SNP	G	G	A	rs372361618		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:125826019G>A	ENST00000393434.2	-	21	2767	c.2418C>T	c.(2416-2418)ttC>ttT	p.F806F	ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000472186.1_Silent_p.F806F|ALDH1L1_ENST00000452905.2_Silent_p.F705F|ALDH1L1_ENST00000273450.3_Silent_p.F816F	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	806	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGACAGGCCCGAAGGACTCCT	0.512																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(2416-2418)ttC>ttT		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)	G		0,4406		0,0,2203	182.0	157.0	165.0		2418	-5.0	0.7	3		165	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ALDH1L1	NM_012190.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		806/903	125826019	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125826019G>A	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2418C>T	3.37:g.125826019G>A						ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000273450.3_Silent_p.F816F|ALDH1L1_ENST00000472186.1_Silent_p.F806F|ALDH1L1_ENST00000452905.2_Silent_p.F705F	p.F806F	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	21	2767	-			806			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	c.2418C>T	CCDS3034.1																																																																																				0.512	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		44	205	0	0	0	1	0	44	205				
RAPGEF2	9693	broad.mit.edu	37	4	160277110	160277110	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:160277110C>T	ENST00000264431.4	+	23	4693	c.4274C>T	c.(4273-4275)cCg>cTg	p.P1425L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1425					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GCCAGGAAACCGCCGGACTAC	0.612																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(4273-4275)cCg>cTg		Rap guanine nucleotide exchange factor (GEF) 2							21.0	23.0	22.0					4																	160277110		1994	4163	6157	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160277110C>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.4274C>T	4.37:g.160277110C>T	ENSP00000264431:p.Pro1425Leu						p.P1425L	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	23	4693	+	all_hematologic(180;0.24)		1425					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.4274C>T	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413610	0.62511	.	.	ENSG00000109756	ENST00000264431	T	0.71222	-0.55	5.56	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.81931	0.4927	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84155	0.0425	10	0.87932	D	0	.	16.5216	0.84318	0.0:0.8691:0.1309:0.0	.	1425	Q9Y4G8	RPGF2_HUMAN	L	1425	ENSP00000264431:P1425L	ENSP00000264431:P1425L	P	+	2	0	RAPGEF2	160496560	1.000000	0.71417	0.417000	0.26559	0.104000	0.19210	7.120000	0.77153	1.329000	0.45376	0.563000	0.77884	CCG		0.612	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		8	5	0	0	0	1	0	8	5				
ANKRD32	84250	broad.mit.edu	37	5	94024258	94024258	+	Silent	SNP	T	T	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:94024258T>C	ENST00000265140.5	+	17	2588	c.2169T>C	c.(2167-2169)tcT>tcC	p.S723S		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	723						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TGCTTGGGTCTGGAAAGATTC	0.378																																						ENST00000265140.5																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13						c.(2167-2169)tcT>tcC		ankyrin repeat domain 32							106.0	108.0	107.0					5																	94024258		2203	4300	6503	SO:0001819	synonymous_variant	84250							g.chr5:94024258T>C	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2169T>C	5.37:g.94024258T>C							p.S723S	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	17	2588	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)	723					B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Silent	SNP	ENST00000265140.5	37	c.2169T>C	CCDS4071.2																																																																																				0.378	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		21	34	0	0	0	1	0	21	34				
TMEM107	84314	broad.mit.edu	37	17	8077876	8077876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:8077876C>T	ENST00000437139.2	-	4	402	c.315G>A	c.(313-315)tgG>tgA	p.W105*	SNORD118_ENST00000363593.1_RNA|TMEM107_ENST00000316425.5_Nonsense_Mutation_p.W111*|RP11-599B13.7_ENST00000581248.1_lincRNA|TMEM107_ENST00000532998.1_3'UTR|TMEM107_ENST00000449985.2_Intron|TMEM107_ENST00000431792.2_Intron|TMEM107_ENST00000533070.1_Nonsense_Mutation_p.W111*	NM_183065.2	NP_898888.1	Q6UX40	TM107_HUMAN	transmembrane protein 107	105					cilium assembly (GO:0042384)|embryonic digit morphogenesis (GO:0042733)|neural tube patterning (GO:0021532)	integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(1)	6						TAGTGCACTCCCAACGCTCGA	0.493																																						ENST00000316425.5																			0				large_intestine(1)|lung(4)|ovary(1)	6						c.(331-333)tgG>tgA		transmembrane protein 107							259.0	234.0	242.0					17																	8077876		2203	4300	6503	SO:0001587	stop_gained	84314					integral to membrane		g.chr17:8077876C>T	AF311338	CCDS11132.1, CCDS45607.1	17p13.1	2005-12-19				ENSG00000179029			28128	protein-coding gene	gene with protein product						12477932	Standard	NM_032354		Approved	MGC10744	uc002gkh.4	Q6UX40		ENST00000437139.2:c.315G>A	17.37:g.8077876C>T	ENSP00000402732:p.Trp105*					TMEM107_ENST00000449985.2_Intron|TMEM107_ENST00000437139.2_Nonsense_Mutation_p.W105*|TMEM107_ENST00000431792.2_Intron|TMEM107_ENST00000533070.1_Nonsense_Mutation_p.W111*|TMEM107_ENST00000532998.1_3'UTR	p.W111*	NM_032354.3	NP_115730.2	Q6UX40	TM107_HUMAN			4	445	-			105					A0PJV7|Q6NSE3|Q6ZRX9|Q96T82	Nonsense_Mutation	SNP	ENST00000437139.2	37	c.333G>A	CCDS45607.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872446	0.91587	.	.	ENSG00000179029	ENST00000437139;ENST00000533070;ENST00000316425	.	.	.	5.91	4.95	0.65309	.	0.164429	0.47455	D	0.000229	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7928	0.46443	0.0:0.9137:0.0:0.0863	.	.	.	.	X	105;111;111	.	ENSP00000314116:W111X	W	-	3	0	TMEM107	8018601	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.395000	0.73228	1.511000	0.48818	0.542000	0.68232	TGG		0.493	TMEM107-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388844.1	NM_032354		57	173	0	0	0	1	0	57	173				
WDR25	79446	broad.mit.edu	37	14	100995422	100995422	+	Silent	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:100995422C>T	ENST00000335290.6	+	6	1516	c.1290C>T	c.(1288-1290)ccC>ccT	p.P430P	WDR25_ENST00000402312.3_Silent_p.P430P|WDR25_ENST00000554998.1_Silent_p.P430P|WDR25_ENST00000542471.2_Silent_p.P173P|WDR25_ENST00000557502.1_3'UTR	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	430										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				TCACCTGCCCCAGCCTCGCCT	0.622																																						ENST00000335290.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20						c.(1288-1290)ccC>ccT		WD repeat domain 25							74.0	57.0	63.0					14																	100995422		2203	4300	6503	SO:0001819	synonymous_variant	79446							g.chr14:100995422C>T	BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"""WD repeat domain containing"""	21064	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 67"""	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.1290C>T	14.37:g.100995422C>T						WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Silent_p.P430P|WDR25_ENST00000554998.1_Silent_p.P430P|WDR25_ENST00000542471.2_Silent_p.P173P	p.P430P	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN			6	1516	+		Melanoma(154;0.212)	430					A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Silent	SNP	ENST00000335290.6	37	c.1290C>T	CCDS32157.1	.	.	.	.	.	.	.	.	.	.	C	8.492	0.862238	0.17178	.	.	ENSG00000176473	ENST00000555201	T	0.26660	1.72	3.64	1.73	0.24493	.	0.000000	0.85682	U	0.000000	T	0.26521	0.0648	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.02546	-1.1143	6	.	.	.	.	6.8909	0.24228	0.0:0.555:0.3417:0.1033	.	.	.	.	L	38	ENSP00000452235:P38L	.	P	+	2	0	WDR25	100065175	0.985000	0.35326	1.000000	0.80357	0.960000	0.62799	0.180000	0.16860	0.848000	0.35191	-0.302000	0.09304	CCA		0.622	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		18	39	0	0	0	1	0	18	39				
CDC42BPA	8476	broad.mit.edu	37	1	227182633	227182633	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:227182633C>T	ENST00000366769.3	-	35	6210	c.4919G>A	c.(4918-4920)gGa>gAa	p.G1640E	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.G1675E|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.G1653E|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.G1559E|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.G1612E|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.G1702E|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.G1620E|RP5-1087E8.3_ENST00000433837.1_RNA	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ACTGTAGCTTCCTCCAGAGAA	0.537																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(4918-4920)gGa>gAa		CDC42 binding protein kinase alpha (DMPK-like)							120.0	113.0	115.0					1																	227182633		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227182633C>T	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4919G>A	1.37:g.227182633C>T	ENSP00000355731:p.Gly1640Glu					CDC42BPA_ENST00000535525.1_Missense_Mutation_p.G1620E|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.G1653E|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.G1559E|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.G1675E|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.G1702E|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.G1612E	p.G1640E	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			35	6210	-		all_cancers(173;0.156)|Prostate(94;0.0792)	1653						Missense_Mutation	SNP	ENST00000366769.3	37	c.4919G>A	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865620	0.91511	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.73258	-0.16;-0.16;-0.73;-0.15;-0.21;-0.17;-0.15	5.09	5.09	0.68999	.	0.221361	0.46442	D	0.000297	T	0.76083	0.3938	N	0.25647	0.755	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	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.74372	-0.3687	10	0.30078	T	0.28	.	18.5298	0.90987	0.0:1.0:0.0:0.0	.	1620;1612;1559;1640;1675;904	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.;.;.;.;.;.	E	1640;1559;1702;1675;1612;1620;1653	ENSP00000355731:G1640E;ENSP00000355729:G1559E;ENSP00000335341:G1702E;ENSP00000355728:G1675E;ENSP00000355726:G1612E;ENSP00000443275:G1620E;ENSP00000355727:G1653E	ENSP00000335341:G1702E	G	-	2	0	CDC42BPA	225249256	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.256000	0.78350	2.371000	0.80710	0.655000	0.94253	GGA		0.537	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		36	56	0	0	0	1	0	36	56				
RSPH1	89765	broad.mit.edu	37	21	43897434	43897434	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr21:43897434C>T	ENST00000291536.3	-	7	861	c.694G>A	c.(694-696)Gat>Aat	p.D232N	RSPH1_ENST00000398352.3_Missense_Mutation_p.D194N	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	232					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CCAGGTCCATCCGTAGAGGTC	0.597																																					Esophageal Squamous(23;63 706 6286 10288 12913)	ENST00000291536.3																			0				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						c.(694-696)Gat>Aat		radial spoke head 1 homolog (Chlamydomonas)							211.0	189.0	197.0					21																	43897434		2203	4300	6503	SO:0001583	missense	89765				meiosis	cytosol|nucleus		g.chr21:43897434C>T	AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.694G>A	21.37:g.43897434C>T	ENSP00000291536:p.Asp232Asn					RSPH1_ENST00000398352.3_Missense_Mutation_p.D194N	p.D232N	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN			7	861	-			232					A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP	ENST00000291536.3	37	c.694G>A	CCDS13688.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503560	0.44558	.	.	ENSG00000160188	ENST00000291536;ENST00000398352	T;T	0.58506	0.36;0.33	4.3	4.3	0.51218	.	2.111270	0.02528	N	0.093312	T	0.54464	0.1860	L	0.40543	1.245	0.09310	N	1	B	0.30482	0.281	B	0.30179	0.112	T	0.44345	-0.9334	10	0.19590	T	0.45	.	14.6523	0.68805	0.0:1.0:0.0:0.0	.	232	Q8WYR4	RSPH1_HUMAN	N	232;194	ENSP00000291536:D232N;ENSP00000381395:D194N	ENSP00000291536:D232N	D	-	1	0	RSPH1	42770503	0.006000	0.16342	0.016000	0.15963	0.003000	0.03518	1.961000	0.40432	2.139000	0.66308	0.655000	0.94253	GAT		0.597	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1			12	25	0	0	0	1	0	12	25				
KIF21A	55605	broad.mit.edu	37	12	39763954	39763954	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:39763954C>A	ENST00000361418.5	-	2	169	c.154G>T	c.(154-156)Gac>Tac	p.D52Y	KIF21A_ENST00000541463.2_Missense_Mutation_p.D52Y|KIF21A_ENST00000395670.3_Missense_Mutation_p.D52Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.D52Y|KIF21A_ENST00000361961.3_Missense_Mutation_p.D52Y			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	52	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AATACATAGTCAAAAGTAAAA	0.388																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(154-156)Gac>Tac		kinesin family member 21A							121.0	118.0	119.0					12																	39763954		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39763954C>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.154G>T	12.37:g.39763954C>A	ENSP00000354878:p.Asp52Tyr					KIF21A_ENST00000541463.2_Missense_Mutation_p.D52Y|KIF21A_ENST00000361418.5_Missense_Mutation_p.D52Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.D52Y|KIF21A_ENST00000361961.3_Missense_Mutation_p.D52Y	p.D52Y			Q7Z4S6	KI21A_HUMAN			2	573	-		Lung NSC(34;0.179)|all_lung(34;0.213)	52			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.154G>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385326	0.82792	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.47	5.47	0.80525	Kinesin, motor domain (4);	0.000000	0.51477	D	0.000082	D	0.94653	0.8276	H	0.96720	3.87	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.995;1.0;0.998	D	0.95936	0.8942	10	0.87932	D	0	.	19.7266	0.96166	0.0:1.0:0.0:0.0	.	52;52;52;52;52	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	Y	52	ENSP00000354851:D52Y;ENSP00000379029:D52Y;ENSP00000445606:D52Y;ENSP00000354878:D52Y;ENSP00000438075:D52Y	ENSP00000344501:D52Y	D	-	1	0	KIF21A	38050221	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.543000	0.82106	2.732000	0.93576	0.650000	0.86243	GAC		0.388	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		17	77	1	0	0.000566183	1	0.000585934	17	77				
ASXL3	80816	broad.mit.edu	37	18	31325430	31325430	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr18:31325430C>T	ENST00000269197.5	+	12	5618	c.5618C>T	c.(5617-5619)cCa>cTa	p.P1873L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1873					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CACAGCCAGCCATTTAAGCAA	0.488																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(5617-5619)cCa>cTa		additional sex combs like 3 (Drosophila)							188.0	191.0	190.0					18																	31325430		2065	4194	6259	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325430C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5618C>T	18.37:g.31325430C>T	ENSP00000269197:p.Pro1873Leu						p.P1873L	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	5618	+			1873					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5618C>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	1.621	-0.521403	0.04171	.	.	ENSG00000141431	ENST00000269197	T	0.16196	2.36	5.76	4.89	0.63831	.	.	.	.	.	T	0.10809	0.0264	N	0.24115	0.695	0.27502	N	0.951943	B	0.06786	0.001	B	0.08055	0.003	T	0.23332	-1.0191	9	0.26408	T	0.33	.	6.2971	0.21091	0.1385:0.6578:0.1335:0.0703	.	1873	Q9C0F0	ASXL3_HUMAN	L	1873	ENSP00000269197:P1873L	ENSP00000269197:P1873L	P	+	2	0	ASXL3	29579428	0.673000	0.27539	0.719000	0.30619	0.027000	0.11550	1.239000	0.32719	1.402000	0.46780	0.650000	0.86243	CCA		0.488	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			48	91	0	0	0	1	0	48	91				
C1orf85	112770	broad.mit.edu	37	1	156263268	156263268	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:156263268A>G	ENST00000362007.1	-	5	924	c.898T>C	c.(898-900)Tgc>Cgc	p.C300R	C1orf85_ENST00000482579.1_Intron	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	300					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GAAGCTTGGCAGGGCAGGGCT	0.582																																						ENST00000362007.1																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14						c.(898-900)Tgc>Cgc		chromosome 1 open reading frame 85							79.0	89.0	85.0					1																	156263268		2203	4300	6503	SO:0001583	missense	112770				positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr1:156263268A>G	BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"""kidney lysosomal membrane protein"""					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.898T>C	1.37:g.156263268A>G	ENSP00000354553:p.Cys300Arg					C1orf85_ENST00000472870.1_Intron|C1orf85_ENST00000368264.1_3'UTR	p.C300R	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN			5	924	-	Hepatocellular(266;0.158)		300					A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Missense_Mutation	SNP	ENST00000362007.1	37	c.898T>C	CCDS1139.1	.	.	.	.	.	.	.	.	.	.	A	19.55	3.847865	0.71603	.	.	ENSG00000198715	ENST00000362007	T	0.23950	1.88	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.42344	-0.9457	10	0.87932	D	0	-1.4738	11.7095	0.51616	1.0:0.0:0.0:0.0	.	219;300	Q8WWB7-2;Q8WWB7	.;NCUG1_HUMAN	R	300	ENSP00000354553:C300R	ENSP00000354553:C300R	C	-	1	0	C1orf85	154529892	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	4.033000	0.57282	2.263000	0.75096	0.379000	0.24179	TGC		0.582	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052108.1	NM_144580		9	23	0	0	0	1	0	9	23				
FURIN	5045	broad.mit.edu	37	15	91422953	91422953	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:91422953C>T	ENST00000268171.3	+	11	1486	c.1207C>T	c.(1207-1209)Cca>Tca	p.P403S		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	403	Peptidase S8.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GACCTCGAAGCCAGCCCACCT	0.587																																						ENST00000268171.3																			0				breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36						c.(1207-1209)Cca>Tca		furin (paired basic amino acid cleaving enzyme)							84.0	76.0	78.0					15																	91422953		2198	4298	6496	SO:0001583	missense	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91422953C>T	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1207C>T	15.37:g.91422953C>T	ENSP00000268171:p.Pro403Ser						p.P403S	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	Lung(145;0.189)		11	1486	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		403					Q14336|Q6LBS3|Q9UCZ5	Missense_Mutation	SNP	ENST00000268171.3	37	c.1207C>T	CCDS10364.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549851	0.86127	.	.	ENSG00000140564	ENST00000268171;ENST00000535252	D	0.87412	-2.25	4.74	4.74	0.60224	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.91962	0.7454	M	0.67700	2.07	0.80722	D	1	P	0.46277	0.875	P	0.59595	0.86	D	0.92464	0.5980	10	0.59425	D	0.04	-11.2253	17.9776	0.89132	0.0:1.0:0.0:0.0	.	403	P09958	FURIN_HUMAN	S	403;2	ENSP00000268171:P403S	ENSP00000268171:P403S	P	+	1	0	FURIN	89223957	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.174000	0.77620	2.458000	0.83093	0.555000	0.69702	CCA		0.587	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		4	70	0	0	0	1	0	4	70				
ASTE1	28990	broad.mit.edu	37	3	130737546	130737546	+	Silent	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:130737546C>T	ENST00000264992.3	-	4	1758	c.1317G>A	c.(1315-1317)agG>agA	p.R439R	ASTE1_ENST00000514044.1_Silent_p.R439R	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	439					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						GCATCTGCCGCCTCCTCAAGG	0.433																																						ENST00000264992.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(1315-1317)agG>agA		asteroid homolog 1 (Drosophila)							64.0	66.0	65.0					3																	130737546		2203	4300	6503	SO:0001819	synonymous_variant	28990				DNA repair		nuclease activity	g.chr3:130737546C>T	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.1317G>A	3.37:g.130737546C>T						ASTE1_ENST00000514044.1_Silent_p.R439R	p.R439R	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN			4	1758	-			439					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Silent	SNP	ENST00000264992.3	37	c.1317G>A	CCDS3068.1																																																																																				0.433	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		12	39	0	0	0	1	0	12	39				
IGKV1D-16	28901	broad.mit.edu	37	2	90139484	90139484	+	RNA	SNP	C	C	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:90139484C>A	ENST00000492446.1	+	0	282									immunoglobulin kappa variable 1D-16																		CAAGGTTCAGCGGCAGTGGAT	0.498																																						ENST00000492446.1																			0																				83.0	87.0	85.0					2																	90139484		1837	4072	5909			28901							g.chr2:90139484C>A	K01323		2p11.2	2012-02-08			ENSG00000241244	ENSG00000241244		"""Immunoglobulins / IGK locus"""	5748	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151569		2.37:g.90139484C>A														0	282	+									RNA	SNP	ENST00000492446.1	37																																																																																						0.498	IGKV1D-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323144.2	NG_000833		56	137	1	0	1.10345e-40	1	1.30364e-40	56	137				
OR4D5	219875	broad.mit.edu	37	11	123810553	123810553	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:123810553C>G	ENST00000307033.2	+	1	304	c.230C>G	c.(229-231)aCa>aGa	p.T77R		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCTTCCATCACAGCACCTAGG	0.478																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(229-231)aCa>aGa		olfactory receptor, family 4, subfamily D, member 5							176.0	147.0	157.0					11																	123810553		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810553C>G	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.230C>G	11.37:g.123810553C>G	ENSP00000305970:p.Thr77Arg						p.T77R	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	304	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	77					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.230C>G	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389582	0.25118	.	.	ENSG00000171014	ENST00000307033	T	0.00902	5.56	5.28	-1.06	0.10002	GPCR, rhodopsin-like superfamily (1);	0.128245	0.34959	N	0.003545	T	0.06872	0.0175	H	0.96208	3.785	0.19775	N	0.999955	D	0.60160	0.987	D	0.65443	0.935	T	0.02144	-1.1206	10	0.87932	D	0	-0.3847	10.8775	0.46919	0.0:0.4148:0.0:0.5852	.	77	Q8NGN0	OR4D5_HUMAN	R	77	ENSP00000305970:T77R	ENSP00000305970:T77R	T	+	2	0	OR4D5	123315763	0.000000	0.05858	0.015000	0.15790	0.783000	0.44284	-0.546000	0.06062	-0.239000	0.09710	-0.136000	0.14681	ACA		0.478	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		10	78	0	0	0	1	0	10	78				
ANKRD44	91526	broad.mit.edu	37	2	197878319	197878319	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:197878319C>T	ENST00000328737.2	-	18	1841	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K	ANKRD44_ENST00000282272.8_Missense_Mutation_p.E606K|ANKRD44_ENST00000337207.5_Missense_Mutation_p.E589K|ANKRD44_ENST00000450567.1_Missense_Mutation_p.E589K			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	614								p.E429Q(1)|p.E429K(1)|p.E589Q(1)|p.E589K(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCCACACATTCTGTGTGTCCT	0.502																																						ENST00000328737.2																			4	Substitution - Missense(4)	p.E429Q(1)|p.E429K(1)|p.E589Q(1)|p.E589K(1)	lung(4)	NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(1765-1767)Gaa>Aaa		ankyrin repeat domain 44							224.0	213.0	217.0					2																	197878319		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197878319C>T	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1765G>A	2.37:g.197878319C>T	ENSP00000331516:p.Glu589Lys					ANKRD44_ENST00000450567.1_Missense_Mutation_p.E589K|ANKRD44_ENST00000282272.8_Missense_Mutation_p.E606K|ANKRD44_ENST00000337207.5_Missense_Mutation_p.E589K	p.E589K			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	1841	-			614					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.1765G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.367402	0.95900	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.43	4.43	0.53597	.	0.119549	0.56097	D	0.000028	T	0.76047	0.3933	L	0.47016	1.485	0.80722	D	1	D	0.69078	0.997	D	0.66084	0.941	T	0.78816	-0.2055	10	0.62326	D	0.03	.	17.2648	0.87083	0.0:1.0:0.0:0.0	.	632	Q8N8A2-2	.	K	429;606;589;589;589;289	ENSP00000403415:E429K;ENSP00000282272:E606K;ENSP00000331516:E589K;ENSP00000402420:E589K;ENSP00000338794:E589K;ENSP00000416319:E289K	ENSP00000282272:E606K	E	-	1	0	ANKRD44	197586564	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.683000	0.61679	2.294000	0.77228	0.655000	0.94253	GAA		0.502	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		48	171	0	0	0	1	0	48	171				
CDHR2	54825	broad.mit.edu	37	5	176012980	176012980	+	Silent	SNP	C	C	T	rs114350001		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:176012980C>T	ENST00000510636.1	+	20	3034	c.2760C>T	c.(2758-2760)gaC>gaT	p.D920D	CDHR2_ENST00000506348.1_Silent_p.D920D|CDHR2_ENST00000261944.5_Silent_p.D920D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	920	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCATTGAGGACGTGAATGACA	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		14652	0.0		0.001	False		,,,				2504	0.0					ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(2758-2760)gaC>gaT		cadherin-related family member 2							123.0	109.0	114.0					5																	176012980		2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176012980C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2760C>T	5.37:g.176012980C>T						CDHR2_ENST00000506348.1_Silent_p.D920D|CDHR2_ENST00000261944.5_Silent_p.D920D	p.D920D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			20	3034	+			920			Cadherin 8.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.2760C>T	CCDS34297.1																																																																																				0.522	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		17	70	0	0	0	1	0	17	70				
ARHGAP4	393	broad.mit.edu	37	X	153176046	153176046	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:153176046C>G	ENST00000350060.5	-	16	1877	c.1836G>C	c.(1834-1836)gaG>gaC	p.E612D	ARHGAP4_ENST00000370028.3_Missense_Mutation_p.E652D|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.E591D|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.E434D|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.E589D	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	612	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCACCCTCTCCGCTGTGG	0.701																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1954-1956)gaG>gaC		Rho GTPase activating protein 4							9.0	13.0	12.0					X																	153176046		2123	4176	6299	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153176046C>G	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1836G>C	X.37:g.153176046C>G	ENSP00000203786:p.Glu612Asp					ARHGAP4_ENST00000370016.1_Missense_Mutation_p.E591D|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.E612D|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.E589D|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.E434D	p.E652D	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			17	2013	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		612			Rho-GAP.		Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.1956G>C	CCDS14736.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.126|2.126	-0.400327|-0.400327	0.04865|0.04865	.|.	.|.	ENSG00000089820|ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206|ENST00000454164;ENST00000442172	T;T;T;T;T|.	0.21361|.	2.01;2.01;2.01;2.01;2.01|.	4.22|4.22	1.31|1.31	0.21738|0.21738	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.000000|.	0.41712|.	D|.	0.000823|.	T|T	0.36936|0.36936	0.0985|0.0985	L|L	0.50847|0.50847	1.595|1.595	0.21147|0.21147	N|N	0.999779|0.999779	B;B|.	0.27971|.	0.196;0.024|.	B;B|.	0.32090|.	0.14;0.089|.	T|T	0.28427|0.28427	-1.0044|-1.0044	10|5	0.37606|.	T|.	0.19|.	.|.	4.2145|4.2145	0.10528|0.10528	0.0:0.3893:0.3535:0.2572|0.0:0.3893:0.3535:0.2572	.|.	652;612|.	Q86UY3;P98171|.	.;RHG04_HUMAN|.	D|T	434;652;612;591;589|112;101	ENSP00000377322:E434D;ENSP00000359045:E652D;ENSP00000203786:E612D;ENSP00000359033:E591D;ENSP00000444169:E589D|.	ENSP00000203786:E612D|.	E|R	-|-	3|2	2|0	ARHGAP4|ARHGAP4	152829240|152829240	0.044000|0.044000	0.20184|0.20184	0.007000|0.007000	0.13788|0.13788	0.005000|0.005000	0.04900|0.04900	0.422000|0.422000	0.21296|0.21296	0.273000|0.273000	0.22049|0.22049	-0.223000|-0.223000	0.12442|0.12442	GAG|AGA		0.701	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		11	7	0	0	0	1	0	11	7				
MYO15A	51168	broad.mit.edu	37	17	18070934	18070934	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:18070934A>T	ENST00000205890.5	+	62	10317	c.9979A>T	c.(9979-9981)Agc>Tgc	p.S3327C	MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.S591C	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3327	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGGACTCTTCAGCAGTGTGCC	0.667																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(9979-9981)Agc>Tgc		myosin XVA							26.0	30.0	29.0					17																	18070934		2038	4194	6232	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18070934A>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9979A>T	17.37:g.18070934A>T	ENSP00000205890:p.Ser3327Cys					MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.S591C	p.S3327C	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			62	10317	+	all_neural(463;0.228)		3327			FERM.|Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.9979A>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.112270	0.37242	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000445289	T	0.72282	-0.64	5.67	4.6	0.57074	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	.	.	.	.	T	0.76307	0.3969	L	0.44542	1.39	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.971;0.997;0.999	D;D;D;D;P	0.66847	0.935;0.947;0.926;0.911;0.887	T	0.75994	-0.3121	9	0.52906	T	0.07	.	11.1529	0.48469	0.9272:0.0:0.0728:0.0	.	316;22;591;3327;334	B4DLV9;B4DMU9;B4DFC7;Q9UKN7;Q8TCK0	.;.;.;MYO15_HUMAN;.	C	3327;316;22	ENSP00000205890:S3327C	ENSP00000205890:S3327C	S	+	1	0	MYO15A	18011659	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	5.771000	0.68881	0.993000	0.38866	0.482000	0.46254	AGC		0.667	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		12	30	0	0	0	1	0	12	30				
KDM4A	9682	broad.mit.edu	37	1	44133692	44133692	+	Splice_Site	SNP	T	T	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:44133692T>C	ENST00000372396.3	+	9	1297		c.e9+2			NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A						cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GAAGACAAGGTAACCCAGCAG	0.532																																						ENST00000372396.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.e9+2		lysine (K)-specific demethylase 4A							180.0	175.0	177.0					1																	44133692		2203	4300	6503	SO:0001630	splice_region_variant	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44133692T>C	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1163+2T>C	1.37:g.44133692T>C								NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN			9	1297	+								Q5VVB1	Splice_Site	SNP	ENST00000372396.3	37		CCDS491.1	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865039	0.71949	.	.	ENSG00000066135	ENST00000372396	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3457	0.60571	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM4A	43906279	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	2.622000	0.46427	2.029000	0.59856	0.454000	0.30748	.		0.532	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663	Intron	122	42	0	0	0	1	0	122	42				
STH	246744	broad.mit.edu	37	17	44076712	44076712	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:44076712G>T	ENST00000537309.1	+	1	97	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S	MAPT_ENST00000344290.5_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000351559.5_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	23						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						caggtggccggccctcattga	0.542																																						ENST00000537309.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(67-69)Gcc>Tcc		saitohin							67.0	66.0	67.0					17																	44076712		1948	4136	6084	SO:0001583	missense	246744					cytoplasm|nucleus		g.chr17:44076712G>T	AA325304	CCDS54136.1	17q21.1	2008-01-22				ENSG00000256762			18839	protein-coding gene	gene with protein product	"""microtubule-associated protein tau (MAPT) intronic transcript"""	607067				12032355, 16186110	Standard	NM_001007532		Approved	MAPTIT	uc002ijy.2	Q8IWL8		ENST00000537309.1:c.67G>T	17.37:g.44076712G>T	ENSP00000443168:p.Ala23Ser					MAPT_ENST00000576518.1_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000340799.5_Intron	p.A23S	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN			1	97	+			23					A1L3X7	Missense_Mutation	SNP	ENST00000537309.1	37	c.67G>T	CCDS54136.1	.	.	.	.	.	.	.	.	.	.	G	8.395	0.840679	0.16891	.	.	ENSG00000256762	ENST00000537309	T	0.54479	0.57	1.31	0.31	0.15825	.	.	.	.	.	T	0.27098	0.0664	N	0.08118	0	0.09310	N	1	D	0.53885	0.963	B	0.41271	0.352	T	0.16070	-1.0415	9	0.87932	D	0	.	3.5118	0.07710	0.2676:0.0:0.7324:0.0	.	23	Q8IWL8	STH_HUMAN	S	23	ENSP00000443168:A23S	ENSP00000443168:A23S	A	+	1	0	STH	41432549	0.001000	0.12720	0.011000	0.14972	0.008000	0.06430	0.547000	0.23299	0.118000	0.18165	0.561000	0.74099	GCC		0.542	STH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400444.1			6	29	1	0	8.12818e-05	1	8.54419e-05	6	29				
PCDH20	64881	broad.mit.edu	37	13	61987012	61987012	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:61987012G>A	ENST00000409186.1	-	5	3325	c.1220C>T	c.(1219-1221)cCt>cTt	p.P407L	PCDH20_ENST00000409204.4_Missense_Mutation_p.P407L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	407	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GATTACAGCAGGGATGCAGCC	0.428																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1219-1221)cCt>cTt		protocadherin 20							101.0	102.0	101.0					13																	61987012		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987012G>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1220C>T	13.37:g.61987012G>A	ENSP00000386653:p.Pro407Leu					PCDH20_ENST00000409204.4_Missense_Mutation_p.P407L	p.P407L			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3325	-		Breast(118;0.195)|Prostate(109;0.229)	380			Cadherin 3.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1220C>T	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752863	0.69648	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.60672	0.17;0.17	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000006	T	0.79257	0.4415	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79732	-0.1680	10	0.62326	D	0.03	.	20.2768	0.98488	0.0:0.0:1.0:0.0	.	407	A8K1K9	.	L	407;407;153	ENSP00000387250:P407L;ENSP00000386653:P407L	ENSP00000351500:P153L	P	-	2	0	PCDH20	60885013	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	9.785000	0.99042	2.808000	0.96608	0.650000	0.86243	CCT		0.428	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		21	65	0	0	0	1	0	21	65				
PLXNA4	91584	broad.mit.edu	37	7	132193289	132193289	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:132193289A>G	ENST00000359827.3	-	2	1126	c.164T>C	c.(163-165)gTg>gCg	p.V55A	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V55A|PLXNA4_ENST00000378539.5_Missense_Mutation_p.V55A|PLXNA4_ENST00000423507.2_Missense_Mutation_p.V55A			Q9HCM2	PLXA4_HUMAN	plexin A4	55	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCATCCACCACCAGGTGATT	0.587																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(163-165)gTg>gCg		plexin A4							51.0	55.0	54.0					7																	132193289		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132193289A>G	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.164T>C	7.37:g.132193289A>G	ENSP00000352882:p.Val55Ala					PLXNA4_ENST00000321063.4_Missense_Mutation_p.V55A|PLXNA4_ENST00000423507.2_Missense_Mutation_p.V55A|PLXNA4_ENST00000378539.5_Missense_Mutation_p.V55A	p.V55A			Q9HCM2	PLXA4_HUMAN			2	1126	-			55			Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.164T>C	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	A	2.914	-0.224644	0.06061	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	5.53	5.53	0.82687	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.094614	0.41823	U	0.000812	T	0.03220	0.0094	N	0.11651	0.15	0.42214	D	0.991829	B;B;B	0.14805	0.003;0.011;0.001	B;B;B	0.21546	0.008;0.035;0.009	T	0.34229	-0.9837	10	0.06365	T	0.9	.	15.6524	0.77108	1.0:0.0:0.0:0.0	.	55;55;55	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	A	55	ENSP00000323194:V55A;ENSP00000352882:V55A;ENSP00000392772:V55A;ENSP00000367800:V55A	ENSP00000323194:V55A	V	-	2	0	PLXNA4	131843829	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	7.473000	0.81007	2.106000	0.64143	0.460000	0.39030	GTG		0.587	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		9	32	0	0	0	1	0	9	32				
TSPEAR	54084	broad.mit.edu	37	21	45949798	45949798	+	Missense_Mutation	SNP	C	C	A	rs146216896		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr21:45949798C>A	ENST00000323084.4	-	5	738	c.673G>T	c.(673-675)Gcc>Tcc	p.A225S	TSPEAR_ENST00000397916.1_Missense_Mutation_p.A157S	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	225	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CTTGGGGTGGCGTCTGAGCCC	0.672																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(673-675)Gcc>Tcc		thrombospondin-type laminin G domain and EAR repeats							33.0	37.0	36.0					21																	45949798		2203	4300	6503	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45949798C>A	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.673G>T	21.37:g.45949798C>A	ENSP00000321987:p.Ala225Ser					TSPEAR_ENST00000397916.1_Missense_Mutation_p.A157S	p.A225S	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			5	738	-			225						Missense_Mutation	SNP	ENST00000323084.4	37	c.673G>T	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144400	0.94603	.	.	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	T;T	0.44881	0.91;0.91	5.11	5.11	0.69529	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.64483	0.2602	M	0.79475	2.455	0.80722	D	1	D	0.65815	0.995	P	0.61328	0.887	T	0.68773	-0.5320	10	0.59425	D	0.04	-12.0784	18.5157	0.90935	0.0:1.0:0.0:0.0	.	225	Q8WU66	TSEAR_HUMAN	S	225;157;225	ENSP00000321987:A225S;ENSP00000381012:A157S	ENSP00000321987:A225S	A	-	1	0	TSPEAR	44774226	1.000000	0.71417	0.994000	0.49952	0.721000	0.41392	6.738000	0.74822	2.382000	0.81193	0.491000	0.48974	GCC		0.672	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		10	16	1	0	6.40141e-05	1	6.75564e-05	10	16				
TRAM1	23471	broad.mit.edu	37	8	71508497	71508497	+	Splice_Site	SNP	C	C	T	rs556123107		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:71508497C>T	ENST00000262213.2	-	5	655		c.e5+1		TRAM1_ENST00000521425.1_Splice_Site|TRAM1_ENST00000536748.1_Splice_Site|TRAM1_ENST00000521049.1_Intron	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1						cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AAATGACTTACGTCATCAGGT	0.368													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17921	0.0		0.0	False		,,,				2504	0.0				Ovarian(85;984 1334 5116 12432 40638)	ENST00000521425.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17						c.e5+1		translocation associated membrane protein 1							130.0	130.0	130.0					8																	71508497		2203	4300	6503	SO:0001630	splice_region_variant	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71508497C>T	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.485+1G>A	8.37:g.71508497C>T						TRAM1_ENST00000262213.2_Splice_Site|TRAM1_ENST00000521049.1_Intron|TRAM1_ENST00000536748.1_Splice_Site				Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		5	1264	-								B4E0K2	Splice_Site	SNP	ENST00000262213.2	37		CCDS6207.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827968	0.90955	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRAM1	71671051	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.999000	0.76283	2.890000	0.99128	0.585000	0.79938	.		0.368	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294	Intron	46	20	0	0	0	1	0	46	20				
APP	351	broad.mit.edu	37	21	27284224	27284224	+	Missense_Mutation	SNP	T	T	C	rs533667466		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr21:27284224T>C	ENST00000346798.3	-	14	1771	c.1738A>G	c.(1738-1740)Atg>Gtg	p.M580V	APP_ENST00000354192.3_Missense_Mutation_p.M449V|APP_ENST00000440126.3_Missense_Mutation_p.M556V|APP_ENST00000348990.5_Missense_Mutation_p.M505V|APP_ENST00000358918.3_Missense_Mutation_p.M580V|APP_ENST00000439274.2_Missense_Mutation_p.M524V|APP_ENST00000448388.2_Missense_Mutation_p.M470V|APP_ENST00000357903.3_Missense_Mutation_p.M561V|APP_ENST00000359726.3_Missense_Mutation_p.M524V	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	580					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TCACTAATCATGTTGGCCAAG	0.443													T|||	1	0.000199681	0.0	0.0	5008	,	,		22174	0.0		0.0	False		,,,				2504	0.001					ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1738-1740)Atg>Gtg		amyloid beta (A4) precursor protein							188.0	127.0	148.0					21																	27284224		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27284224T>C	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1738A>G	21.37:g.27284224T>C	ENSP00000284981:p.Met580Val					APP_ENST00000354192.3_Missense_Mutation_p.M449V|APP_ENST00000348990.5_Missense_Mutation_p.M505V|APP_ENST00000448388.2_Missense_Mutation_p.M470V|APP_ENST00000359726.3_Missense_Mutation_p.M524V|APP_ENST00000346798.3_Missense_Mutation_p.M580V|APP_ENST00000439274.2_Missense_Mutation_p.M524V|APP_ENST00000357903.3_Missense_Mutation_p.M561V|APP_ENST00000440126.3_Missense_Mutation_p.M556V	p.M580V	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			14	1937	-		Breast(209;0.00295)	580					B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.1738A>G	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.865774	0.32977	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274;ENST00000456209	D;D;D;D;D;D;D;D;D;D	0.95885	-1.9;-3.84;-3.84;-1.9;-1.72;-3.84;-3.84;-1.9;-1.9;-2.67	4.76	3.6	0.41247	.	0.137036	0.64402	N	0.000003	D	0.91971	0.7457	L	0.47190	1.495	0.49130	D	0.999751	B;B;B;B;B;B;B	0.13145	0.004;0.002;0.0;0.007;0.0;0.0;0.002	B;B;B;B;B;B;B	0.12156	0.003;0.003;0.0;0.007;0.001;0.0;0.003	D	0.87803	0.2626	10	0.45353	T	0.12	-14.958	9.5853	0.39512	0.0:0.088:0.0:0.912	.	470;524;556;449;505;561;580	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	V	580;449;505;561;580;524;470;556;524;167	ENSP00000284981:M580V;ENSP00000346129:M449V;ENSP00000345463:M505V;ENSP00000350578:M561V;ENSP00000351796:M580V;ENSP00000352760:M524V;ENSP00000388538:M470V;ENSP00000387483:M556V;ENSP00000398879:M524V;ENSP00000397795:M167V	ENSP00000284981:M580V	M	-	1	0	APP	26206095	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.772000	0.55325	0.940000	0.37473	0.459000	0.35465	ATG		0.443	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		55	24	0	0	0	1	0	55	24				
MYH6	4624	broad.mit.edu	37	14	23855803	23855803	+	Silent	SNP	G	G	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:23855803G>T	ENST00000356287.3	-	32	4709	c.4680C>A	c.(4678-4680)atC>atA	p.I1560I	MYH6_ENST00000405093.3_Silent_p.I1560I|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1560					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGGCCCGGAGGATCTTGCCCT	0.632																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(4678-4680)atC>atA		myosin, heavy chain 6, cardiac muscle, alpha							116.0	122.0	120.0					14																	23855803		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23855803G>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4680C>A	14.37:g.23855803G>T						MYH6_ENST00000356287.3_Silent_p.I1560I	p.I1560I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	33	4750	-	all_cancers(95;2.54e-05)		1560					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.4680C>A	CCDS9600.1																																																																																				0.632	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			25	72	1	0	4.87955e-14	1	5.52051e-14	25	72				
NLRP7	199713	broad.mit.edu	37	19	55450637	55450637	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:55450637T>G	ENST00000590030.1	-	3	1590	c.1550A>C	c.(1549-1551)cAa>cCa	p.Q517P	NLRP7_ENST00000448121.2_Missense_Mutation_p.Q517P|NLRP7_ENST00000446217.1_Missense_Mutation_p.Q545P|NLRP7_ENST00000340844.2_Missense_Mutation_p.Q517P|NLRP7_ENST00000328092.5_Missense_Mutation_p.Q517P|NLRP7_ENST00000588756.1_Missense_Mutation_p.Q517P|NLRP7_ENST00000592784.1_Missense_Mutation_p.Q517P			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	517							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)		GTGTCCTACTTGAATCAGGTC	0.557																																						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.(1549-1551)cAa>cCa		NLR family, pyrin domain containing 7							81.0	82.0	82.0					19																	55450637		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55450637T>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.1550A>C	19.37:g.55450637T>G	ENSP00000465520:p.Gln517Pro					NLRP7_ENST00000340844.2_Missense_Mutation_p.Q517P|NLRP7_ENST00000590030.1_Missense_Mutation_p.Q517P|NLRP7_ENST00000328092.5_Missense_Mutation_p.Q517P|NLRP7_ENST00000448121.2_Missense_Mutation_p.Q517P|NLRP7_ENST00000446217.1_Missense_Mutation_p.Q545P|NLRP7_ENST00000592784.1_Missense_Mutation_p.Q517P	p.Q517P			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	2036	-			517					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1550A>C	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	T	6.376	0.437426	0.12104	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.74002	-0.74;-0.74;-0.8;-0.77	2.34	0.121	0.14695	.	1.534060	0.04614	N	0.400720	T	0.57417	0.2052	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.16396	0.005;0.005;0.005;0.017	B;B;B;B	0.20184	0.012;0.012;0.012;0.028	T	0.39099	-0.9630	10	0.35671	T	0.21	.	2.7358	0.05240	0.0:0.1624:0.2744:0.5632	.	545;517;517;517	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	P	517;517;517;545;284	ENSP00000329568:Q517P;ENSP00000409137:Q517P;ENSP00000339491:Q517P;ENSP00000414273:Q545P	ENSP00000329568:Q517P	Q	-	2	0	NLRP7	60142449	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.176000	0.09811	-0.041000	0.13558	0.379000	0.24179	CAA		0.557	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		4	61	0	0	0	1	0	4	61				
UAP1	6675	broad.mit.edu	37	1	162549382	162549382	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:162549382C>A	ENST00000367925.1	+	3	682	c.650C>A	c.(649-651)tCt>tAt	p.S217Y	UAP1_ENST00000271469.3_Missense_Mutation_p.S217Y|UAP1_ENST00000367926.4_Missense_Mutation_p.S217Y|UAP1_ENST00000367924.1_Missense_Mutation_p.S217Y			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	217					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)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AACAAAGTTTCTATGGCTCCA	0.318																																						ENST00000271469.3																			0				breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22						c.(649-651)tCt>tAt		UDP-N-acteylglucosamine pyrophosphorylase 1							63.0	67.0	66.0					1																	162549382		2197	4300	6497	SO:0001583	missense	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162549382C>A	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.650C>A	1.37:g.162549382C>A	ENSP00000356902:p.Ser217Tyr					UAP1_ENST00000367926.4_Missense_Mutation_p.S217Y|UAP1_ENST00000367925.1_Missense_Mutation_p.S217Y|UAP1_ENST00000367924.1_Missense_Mutation_p.S217Y	p.S217Y			Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		4	952	+	all_hematologic(112;0.115)		217					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	ENST00000367925.1	37	c.650C>A		.	.	.	.	.	.	.	.	.	.	C	28.2	4.895516	0.91962	.	.	ENSG00000117143	ENST00000412525;ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.38	5.38	0.77491	.	0.103719	0.64402	D	0.000002	T	0.34600	0.0903	L	0.58810	1.83	0.40928	D	0.984362	D	0.65815	0.995	D	0.66084	0.941	T	0.10109	-1.0644	9	0.87932	D	0	-16.8158	17.7307	0.88376	0.0:1.0:0.0:0.0	.	217	Q16222-2	.	Y	217	ENSP00000395648:S217Y;ENSP00000356903:S217Y;ENSP00000271469:S217Y;ENSP00000356902:S217Y;ENSP00000356901:S217Y	ENSP00000271469:S217Y	S	+	2	0	UAP1	160816006	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	7.338000	0.79269	2.515000	0.84797	0.655000	0.94253	TCT		0.318	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		22	27	1	0	1.28384e-07	1	1.3822e-07	22	27				
IFT80	57560	broad.mit.edu	37	3	160000392	160000392	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:160000392A>C	ENST00000326448.7	-	14	1822	c.1390T>G	c.(1390-1392)Ttg>Gtg	p.L464V	IFT80_ENST00000496589.1_Missense_Mutation_p.L327V|IFT80_ENST00000483465.1_Missense_Mutation_p.L327V|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.L635V	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	464					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)			GCAATTTCCAAGATTTCATTC	0.259																																						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.(1390-1392)Ttg>Gtg		intraflagellar transport 80 homolog (Chlamydomonas)							36.0	40.0	39.0					3																	160000392		2188	4272	6460	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:160000392A>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.1390T>G	3.37:g.160000392A>C	ENSP00000312778:p.Leu464Val					IFT80_ENST00000496589.1_Missense_Mutation_p.L327V|IFT80_ENST00000483465.1_Missense_Mutation_p.L327V|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.L635V	p.L464V	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		14	1822	-			464					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.1390T>G	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	A	3.402	-0.121963	0.06795	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	T;T;T	0.70749	2.3;-0.51;-0.51	5.61	3.06	0.35304	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.456221	0.16700	U	0.203197	T	0.44561	0.1299	N	0.11131	0.1	0.30547	N	0.765823	B	0.06786	0.001	B	0.06405	0.002	T	0.35276	-0.9795	10	0.10902	T	0.67	.	6.6009	0.22701	0.5444:0.1304:0.0:0.3252	.	464	Q9P2H3	IFT80_HUMAN	V	464;327;327	ENSP00000312778:L464V;ENSP00000418196:L327V;ENSP00000420646:L327V	ENSP00000312778:L464V	L	-	1	2	IFT80	161483086	0.970000	0.33590	0.998000	0.56505	0.998000	0.95712	0.463000	0.21972	0.938000	0.37419	0.482000	0.46254	TTG		0.259	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		14	73	0	0	0	1	0	14	73				
GRM3	2913	broad.mit.edu	37	7	86415986	86415986	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:86415986C>A	ENST00000361669.2	+	3	1977	c.878C>A	c.(877-879)gCc>gAc	p.A293D	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.A291D|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.A293D|GRM3_ENST00000536043.1_Missense_Mutation_p.A165D|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	293					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CGCGCCAATGCCTCCTTCACC	0.672																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(877-879)gCc>gAc		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						32.0	38.0	36.0					7																	86415986		2201	4289	6490	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415986C>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.878C>A	7.37:g.86415986C>A	ENSP00000355316:p.Ala293Asp					GRM3_ENST00000394720.2_Missense_Mutation_p.A291D|GRM3_ENST00000536043.1_Missense_Mutation_p.A165D|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.A293D|GRM3_ENST00000546348.1_Intron	p.A293D	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1977	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		293					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.878C>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.891992	0.52014	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12	6.07	6.07	0.98685	Extracellular ligand-binding receptor (1);	0.210963	0.49916	D	0.000128	D	0.88119	0.6351	L	0.49350	1.555	0.54753	D	0.999985	B;D;B	0.54772	0.007;0.968;0.003	B;P;B	0.55824	0.018;0.785;0.052	D	0.83848	0.0261	10	0.16896	T	0.51	.	12.8046	0.57605	0.0:0.9186:0.0:0.0814	.	165;293;293	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	D	293;165;165;293;291	ENSP00000355316:A293D;ENSP00000405427:A165D;ENSP00000441407:A165D;ENSP00000398767:A293D;ENSP00000378209:A291D	ENSP00000355316:A293D	A	+	2	0	GRM3	86253922	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.793000	0.62474	2.885000	0.99019	0.655000	0.94253	GCC		0.672	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			31	47	1	0	5.8336e-16	1	6.65629e-16	31	47				
LRRC4C	57689	broad.mit.edu	37	11	40136232	40136232	+	Silent	SNP	T	T	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:40136232T>A	ENST00000278198.2	-	2	3574	c.1611A>T	c.(1609-1611)acA>acT	p.T537T	LRRC4C_ENST00000527150.1_Silent_p.T537T|LRRC4C_ENST00000528697.1_Silent_p.T537T|LRRC4C_ENST00000530763.1_Silent_p.T537T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	537					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CAGCCATGAGTGTGATGGCCA	0.453																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(1609-1611)acA>acT		leucine rich repeat containing 4C							154.0	134.0	141.0					11																	40136232		2203	4300	6503	SO:0001819	synonymous_variant	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136232T>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1611A>T	11.37:g.40136232T>A						LRRC4C_ENST00000527150.1_Silent_p.T537T|LRRC4C_ENST00000528697.1_Silent_p.T537T|LRRC4C_ENST00000530763.1_Silent_p.T537T	p.T537T			Q9HCJ2	LRC4C_HUMAN			2	3574	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	537					A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	c.1611A>T	CCDS31464.1																																																																																				0.453	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		20	59	0	0	0	1	0	20	59				
PRB1	5542	broad.mit.edu	37	12	11506762	11506762	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:11506762G>C	ENST00000500254.2	-	3	312	c.275C>G	c.(274-276)tCt>tGt	p.S92C	PRB1_ENST00000545626.1_Missense_Mutation_p.S92C|PRB1_ENST00000546254.1_Missense_Mutation_p.S92C	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	153	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TCCTGGAGGAGATCGGGGACT	0.617																																						ENST00000500254.2																			0				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(274-276)tCt>tGt		proline-rich protein BstNI subfamily 1							174.0	217.0	203.0					12																	11506762		2161	4276	6437	SO:0001583	missense	5542					extracellular region		g.chr12:11506762G>C		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.275C>G	12.37:g.11506762G>C	ENSP00000420826:p.Ser92Cys					PRB1_ENST00000545626.1_Missense_Mutation_p.S92C|PRB1_ENST00000546254.1_Missense_Mutation_p.S92C	p.S92C	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	312	-			275			15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	c.275C>G	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	4.225	0.040695	0.08196	.	.	ENSG00000251655	ENST00000545626;ENST00000500254;ENST00000546254	T;T;T	0.04809	3.72;3.55;3.55	1.32	0.339	0.15979	.	.	.	.	.	T	0.02571	0.0078	N	0.19112	0.55	0.09310	N	1	P;P;P	0.50272	0.933;0.933;0.933	B;B;B	0.37550	0.253;0.253;0.253	T	0.42999	-0.9418	9	0.72032	D	0.01	.	2.028	0.03523	0.2051:0.0:0.4748:0.3202	.	99;92;92	Q86YA1;G3V1R1;G3V1M9	.;.;.	C	92	ENSP00000444249:S92C;ENSP00000420826:S92C;ENSP00000442127:S92C	ENSP00000420826:S92C	S	-	2	0	PRB1	11398029	0.541000	0.26417	0.001000	0.08648	0.025000	0.11179	-0.229000	0.09098	0.135000	0.18707	-0.889000	0.02933	TCT		0.617	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		185	528	0	0	0	1	0	185	528				
MED20	9477	broad.mit.edu	37	6	41884614	41884614	+	Silent	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:41884614C>T	ENST00000265350.4	-	2	158	c.78G>A	c.(76-78)cgG>cgA	p.R26R	MED20_ENST00000409312.1_Silent_p.R26R|MED20_ENST00000409060.1_Silent_p.R26R|Y_RNA_ENST00000384641.1_RNA|MED20_ENST00000467535.1_5'UTR	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	26					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)|RNA polymerase II transcription cofactor activity (GO:0001104)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTCCAATTTCCGGGTAAGGA	0.537																																						ENST00000265350.4																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5						c.(76-78)cgG>cgA		mediator complex subunit 20							133.0	110.0	117.0					6																	41884614		2203	4300	6503	SO:0001819	synonymous_variant	9477				regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding	g.chr6:41884614C>T	AF097725	CCDS4862.1	6p21.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000124641	ENSG00000124641			16840	protein-coding gene	gene with protein product		612915	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"""	TRFP		9933582, 15175163	Standard	NM_004275		Approved	DKFZp586D2223, PRO0213	uc011dui.3	Q9H944	OTTHUMG00000014689	ENST00000265350.4:c.78G>A	6.37:g.41884614C>T						MED20_ENST00000467535.1_5'UTR|MED20_ENST00000409312.1_Silent_p.R26R|MED20_ENST00000409060.1_Silent_p.R26R	p.R26R	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		2	158	-	Colorectal(47;0.121)		26					B4DE08|O95821|Q5T8J4|Q9Y429	Silent	SNP	ENST00000265350.4	37	c.78G>A	CCDS4862.1																																																																																				0.537	MED20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040539.1	NM_004275		20	37	0	0	0	1	0	20	37				
IFI35	3430	broad.mit.edu	37	17	41168110	41168110	+	IGR	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:41168110G>A	ENST00000415816.2	+	0	1241				VAT1_ENST00000587173.1_Missense_Mutation_p.L316F|VAT1_ENST00000420567.3_Missense_Mutation_p.L250F|VAT1_ENST00000355653.3_Missense_Mutation_p.L384F	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35						cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GGAACCAGGAGGACCTTGCCC	0.562																																						ENST00000355653.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						c.(1150-1152)Ctc>Ttc		vesicle amine transport 1							387.0	360.0	369.0					17																	41168110		2203	4300	6503	SO:0001628	intergenic_variant	10493					cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding	g.chr17:41168110G>A	BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720		17.37:g.41168110G>A						VAT1_ENST00000420567.3_Missense_Mutation_p.L250F|VAT1_ENST00000587173.1_Missense_Mutation_p.L316F	p.L384F	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	6	1245	-		Breast(137;0.000717)	384					C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	ENST00000415816.2	37	c.1150C>T		.	.	.	.	.	.	.	.	.	.	G	14.03	2.414906	0.42817	.	.	ENSG00000108828	ENST00000355653;ENST00000542468;ENST00000420567	T;T	0.12879	3.41;2.64	5.24	-1.03	0.10102	.	0.178432	0.48767	D	0.000176	T	0.17408	0.0418	M	0.80746	2.51	0.37700	D	0.92419	P;B	0.51791	0.948;0.402	B;B	0.42555	0.391;0.197	T	0.35226	-0.9797	10	0.72032	D	0.01	-6.854	9.9913	0.41872	0.0:0.1751:0.1795:0.6454	.	316;384	B4DPX4;Q99536	.;VAT1_HUMAN	F	384;291;250	ENSP00000347872:L384F;ENSP00000408553:L250F	ENSP00000347872:L384F	L	-	1	0	VAT1	38421636	0.960000	0.32886	1.000000	0.80357	0.943000	0.58893	0.318000	0.19504	0.154000	0.19237	0.561000	0.74099	CTC		0.562	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533		48	300	0	0	0	1	0	48	300				
C7	730	broad.mit.edu	37	5	40958310	40958310	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:40958310C>T	ENST00000313164.9	+	11	1795	c.1436C>T	c.(1435-1437)cCg>cTg	p.P479L		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	479	EGF-like.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|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)		p.P479Q(1)					Ovarian(839;0.0112)				CATTGCAAACCGTACACATTT	0.507																																						ENST00000313164.9																			1	Substitution - Missense(1)	p.P479Q(1)	lung(1)								c.(1435-1437)cCg>cTg		complement component 7							140.0	138.0	139.0					5																	40958310		2008	4168	6176	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40958310C>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1436C>T	5.37:g.40958310C>T	ENSP00000322061:p.Pro479Leu						p.P479L	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			11	1795	+		Ovarian(839;0.0112)	479			EGF-like.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.1436C>T	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796962	0.90453	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.63580	-0.05	5.87	5.87	0.94306	.	0.060526	0.64402	D	0.000002	T	0.71929	0.3398	L	0.43598	1.365	0.80722	D	1	D	0.71674	0.998	P	0.62435	0.902	T	0.65919	-0.6051	10	0.29301	T	0.29	-16.2245	20.2192	0.98319	0.0:1.0:0.0:0.0	.	479	P10643	CO7_HUMAN	L	479;319	ENSP00000322061:P479L	ENSP00000322061:P479L	P	+	2	0	C7	40994067	0.999000	0.42202	0.970000	0.41538	0.978000	0.69477	4.524000	0.60552	2.780000	0.95670	0.655000	0.94253	CCG		0.507	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			13	86	0	0	0	1	0	13	86				
IGFL3	388555	broad.mit.edu	37	19	46627904	46627904	+	Start_Codon_SNP	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:46627904C>T	ENST00000341415.2	-	1	27	c.3G>A	c.(1-3)atG>atA	p.M1I	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	1						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		ATCGTGGCCTCATGCTTCCAA	0.463																																						ENST00000341415.2																			0				endometrium(1)|large_intestine(1)|lung(5)	7						c.(1-3)atG>atA		IGF-like family member 3							169.0	158.0	161.0					19																	46627904		2185	4300	6485	SO:0001582	initiator_codon_variant	388555					extracellular region	protein binding	g.chr19:46627904C>T	AY358434	CCDS33058.1	19q13.32	2006-07-14				ENSG00000188624			32930	protein-coding gene	gene with protein product		610546				14702039	Standard	NM_207393		Approved	UNQ483	uc002pea.1	Q6UXB1		ENST00000341415.2:c.3G>A	19.37:g.46627904C>T	ENSP00000344860:p.Met1Ile					AC007193.6_ENST00000597989.1_lincRNA	p.M1I	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)	1	27	-		Ovarian(192;0.0175)|all_neural(266;0.0476)	1						Translation_Start_Site	SNP	ENST00000341415.2	37	c.3G>A	CCDS33058.1	.	.	.	.	.	.	.	.	.	.	C	6.483	0.457361	0.12342	.	.	ENSG00000188624	ENST00000341415	T	0.23348	1.91	1.06	1.06	0.20224	.	.	.	.	.	T	0.18045	0.0433	.	.	.	0.80722	D	1	B	0.22414	0.069	B	0.17979	0.02	T	0.11665	-1.0578	8	0.87932	D	0	0.0219	5.4667	0.16648	0.0:1.0:0.0:0.0	.	1	Q6UXB1	IGFL3_HUMAN	I	1	ENSP00000344860:M1I	ENSP00000344860:M1I	M	-	3	0	IGFL3	51319744	0.000000	0.05858	0.012000	0.15200	0.006000	0.05464	0.054000	0.14205	0.883000	0.36040	0.543000	0.68304	ATG		0.463	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421323.1	NM_207393	Missense_Mutation	19	23	0	0	0	1	0	19	23				
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G	rs201049716		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:72413896A>G	ENST00000434423.2	+	11	3364	c.3364A>G	c.(3364-3366)Acc>Gcc	p.T1122A	POM121_ENST00000395270.1_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637																																						ENST00000395270.1																			8	Substitution - Missense(8)	p.T857A(8)	lung(4)|kidney(4)	NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2569-2571)Acc>Gcc		POM121 transmembrane nucleoporin							32.0	30.0	30.0					7																	72413896		2201	4299	6500	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413896A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3364A>G	7.37:g.72413896A>G	ENSP00000405562:p.Thr1122Ala					POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A	p.T857A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	3610	+		Lung NSC(55;0.163)	1122			Pore side (Potential).|Thr-rich.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.2569A>G		56	0.02564102564102564	11	0.022357723577235773	14	0.03867403314917127	19	0.033216783216783216	12	0.0158311345646438	G	2.480	-0.319876	0.05386	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.05649	3.46;3.41;3.46;3.41;3.71	2.86	-2.18	0.07037	.	0.720175	0.11383	N	0.569582	T	0.00724	0.0024	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42275	-0.9461	10	0.36615	T	0.2	.	4.8571	0.13564	0.1842:0.0:0.3666:0.4491	.	857;1122	A8MXF9;Q96HA1	.;P121A_HUMAN	A	857;857;857;857;1122	ENSP00000393020:T857A;ENSP00000257622:T857A;ENSP00000378687:T857A;ENSP00000351124:T857A;ENSP00000405562:T1122A	ENSP00000257622:T857A	T	+	1	0	POM121	72051832	0.360000	0.24964	0.406000	0.26421	0.004000	0.04260	0.000000	0.12993	-0.499000	0.06623	-2.511000	0.00188	ACC		0.637	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			5	42	0	0	0	1	0	5	42				
DLG2	1740	broad.mit.edu	37	11	83544678	83544678	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:83544678C>G	ENST00000532653.1	-	12	1688	c.1386G>C	c.(1384-1386)caG>caC	p.Q462H	DLG2_ENST00000280241.8_Missense_Mutation_p.Q501H|DLG2_ENST00000531015.1_Missense_Mutation_p.Q429H|DLG2_ENST00000524982.1_Missense_Mutation_p.Q462H|DLG2_ENST00000330014.6_Missense_Mutation_p.Q401H|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000398301.2_Missense_Mutation_p.Q501H|DLG2_ENST00000543673.1_Missense_Mutation_p.Q567H|DLG2_ENST00000418306.2_Missense_Mutation_p.Q359H|DLG2_ENST00000376104.2_Missense_Mutation_p.Q567H|DLG2_ENST00000398309.2_Missense_Mutation_p.Q462H|DLG2_ENST00000537455.1_Missense_Mutation_p.Q216H			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	204	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GGTCTCCTCTCTGGAGCTCCC	0.453																																						ENST00000398309.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(1384-1386)caG>caC		discs, large homolog 2 (Drosophila)							97.0	106.0	103.0					11																	83544678		2142	4269	6411	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:83544678C>G	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1386G>C	11.37:g.83544678C>G	ENSP00000435849:p.Gln462His					DLG2_ENST00000543673.1_Missense_Mutation_p.Q567H|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Missense_Mutation_p.Q216H|DLG2_ENST00000330014.6_Missense_Mutation_p.Q401H|DLG2_ENST00000532653.1_Missense_Mutation_p.Q462H|DLG2_ENST00000524982.1_Missense_Mutation_p.Q462H|DLG2_ENST00000376104.2_Missense_Mutation_p.Q567H|DLG2_ENST00000531015.1_Missense_Mutation_p.Q429H|DLG2_ENST00000418306.2_Missense_Mutation_p.Q359H|DLG2_ENST00000280241.8_Missense_Mutation_p.Q501H|DLG2_ENST00000398301.2_Missense_Mutation_p.Q501H	p.Q462H	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			12	1856	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	462			PDZ 3.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.1386G>C		.	.	.	.	.	.	.	.	.	.	C	21.4	4.138467	0.77775	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;T;T;T;T;T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65	5.25	5.25	0.73442	PDZ/DHR/GLGF (4);	0.096366	0.39985	N	0.001208	T	0.39118	0.1066	L	0.41492	1.28	0.80722	D	1	P;B;B;P;B;P;P;P	0.51057	0.755;0.034;0.001;0.747;0.022;0.941;0.84;0.742	P;B;B;P;B;P;P;P	0.57009	0.637;0.026;0.004;0.811;0.021;0.735;0.811;0.504	T	0.04621	-1.0938	9	.	.	.	.	12.2243	0.54451	0.0:0.9222:0.0:0.0778	.	429;462;462;401;501;567;462;359	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	H	462;567;359;567;501;401;216;462;462;567;429;501	ENSP00000381355:Q462H;ENSP00000365272:Q567H;ENSP00000402275:Q359H;ENSP00000441994:Q567H;ENSP00000280241:Q501H;ENSP00000381353:Q401H;ENSP00000443248:Q216H;ENSP00000432894:Q462H;ENSP00000435849:Q462H;ENSP00000433848:Q429H;ENSP00000381346:Q501H	.	Q	-	3	2	DLG2	83222326	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.673000	0.54591	2.462000	0.83206	0.650000	0.86243	CAG		0.453	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		15	44	0	0	0	1	0	15	44				
KRT4	3851	broad.mit.edu	37	12	53202524	53202524	+	Silent	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:53202524G>A	ENST00000551956.1	-	5	1437	c.945C>T	c.(943-945)taC>taT	p.Y315Y	KRT4_ENST00000458244.2_Silent_p.Y295Y|KRT4_ENST00000293774.4_Silent_p.Y389Y			P19013	K2C4_HUMAN	keratin 4	329	Linker 12.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.Y389Y(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CAATCTCCTCGTACTGGGCAC	0.592																																					Pancreas(190;284 2995 41444 45903)	ENST00000551956.1																			1	Substitution - coding silent(1)	p.Y389Y(1)	large_intestine(1)	endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(943-945)taC>taT		keratin 4							102.0	93.0	96.0					12																	53202524		2203	4300	6503	SO:0001819	synonymous_variant	3851					keratin filament	structural molecule activity	g.chr12:53202524G>A		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.945C>T	12.37:g.53202524G>A						KRT4_ENST00000458244.2_Silent_p.Y295Y|KRT4_ENST00000293774.4_Silent_p.Y389Y	p.Y315Y			B4DRS2	B4DRS2_HUMAN			5	1437	-			315					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	c.945C>T	CCDS41787.2																																																																																				0.592	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		28	62	0	0	0	1	0	28	62				
PSIP1	11168	broad.mit.edu	37	9	15506632	15506632	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:15506632C>G	ENST00000380733.4	-	3	419	c.76G>C	c.(76-78)Gac>Cac	p.D26H	PSIP1_ENST00000380715.1_Missense_Mutation_p.D26H|PSIP1_ENST00000484265.1_5'UTR|PSIP1_ENST00000380738.4_Missense_Mutation_p.D26H|PSIP1_ENST00000380716.4_Missense_Mutation_p.D26H|PSIP1_ENST00000397519.2_Missense_Mutation_p.D26H			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	26	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GGAACTTCGTCTACCTAAAAG	0.348																																						ENST00000380733.4																			0				breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9						c.(76-78)Gac>Cac		PC4 and SFRS1 interacting protein 1							84.0	89.0	87.0					9																	15506632		2203	4300	6503	SO:0001583	missense	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15506632C>G	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.76G>C	9.37:g.15506632C>G	ENSP00000370109:p.Asp26His					PSIP1_ENST00000380716.4_Missense_Mutation_p.D26H|PSIP1_ENST00000397519.2_Missense_Mutation_p.D26H|PSIP1_ENST00000380715.1_Missense_Mutation_p.D26H|PSIP1_ENST00000484265.1_5'UTR|PSIP1_ENST00000380738.4_Missense_Mutation_p.D26H	p.D26H			O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	3	419	-			26			PWWP.		D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	ENST00000380733.4	37	c.76G>C	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661649	0.88154	.	.	ENSG00000164985	ENST00000380733;ENST00000380738;ENST00000380715;ENST00000380716;ENST00000397519	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	5.88	5.88	0.94601	PWWP (3);	0.000000	0.85682	D	0.000000	D	0.85553	0.5723	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.993	D;D;D	0.81914	0.993;0.994;0.995	D	0.86539	0.1827	10	0.87932	D	0	.	19.0155	0.92892	0.0:1.0:0.0:0.0	.	26;26;26	O75475-2;Q05CM9;O75475	.;.;PSIP1_HUMAN	H	26	ENSP00000370109:D26H;ENSP00000370114:D26H;ENSP00000370091:D26H;ENSP00000370092:D26H;ENSP00000380653:D26H	ENSP00000370091:D26H	D	-	1	0	PSIP1	15496632	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.746000	0.74866	2.774000	0.95407	0.655000	0.94253	GAC		0.348	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		13	20	0	0	0	1	0	13	20				
OR51M1	390059	broad.mit.edu	37	11	5411022	5411022	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:5411022T>C	ENST00000328611.3	+	1	416	c.394T>C	c.(394-396)Ttt>Ctt	p.F132L	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	132					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)		CATGATGTCCTTTGACCGCCT	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.(394-396)Ttt>Ctt		olfactory receptor, family 51, subfamily M, member 1							226.0	216.0	219.0					11																	5411022		2065	4246	6311	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5411022T>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.394T>C	11.37:g.5411022T>C	ENSP00000333196:p.Phe132Leu					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	p.F132L	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	416	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	132					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.394T>C	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.541436	0.45280	.	.	ENSG00000184698	ENST00000328611	T	0.02552	4.25	5.06	1.02	0.19986	GPCR, rhodopsin-like superfamily (1);	0.248048	0.21164	U	0.079119	T	0.09335	0.0230	M	0.64170	1.965	0.30812	N	0.738731	D	0.76494	0.999	D	0.72075	0.976	T	0.02471	-1.1154	10	0.52906	T	0.07	.	7.5417	0.27742	0.1362:0.0:0.4205:0.4433	.	121	Q9H341	O51M1_HUMAN	L	132	ENSP00000333196:F132L	ENSP00000333196:F132L	F	+	1	0	OR51M1	5367598	0.000000	0.05858	0.991000	0.47740	0.198000	0.23893	-0.046000	0.11983	0.342000	0.23796	0.533000	0.62120	TTT		0.502	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		94	88	0	0	0	1	0	94	88				
C7	730	broad.mit.edu	37	5	40947807	40947807	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:40947807C>T	ENST00000313164.9	+	8	1201	c.842C>T	c.(841-843)tCc>tTc	p.S281F		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	281	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|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)							Ovarian(839;0.0112)				AAGGAGCTTTCCCACCTCCCC	0.448																																						ENST00000313164.9																			0											c.(841-843)tCc>tTc		complement component 7							85.0	82.0	83.0					5																	40947807		1851	4086	5937	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40947807C>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.842C>T	5.37:g.40947807C>T	ENSP00000322061:p.Ser281Phe						p.S281F	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			8	1201	+		Ovarian(839;0.0112)	281			MACPF.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.842C>T	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209788	0.39003	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	D	0.85171	-1.95	5.9	4.86	0.63082	Membrane attack complex component/perforin (MACPF) domain (3);	0.247598	0.42172	D	0.000753	D	0.82669	0.5087	M	0.74258	2.255	0.44652	D	0.997636	B	0.30686	0.29	B	0.28465	0.09	T	0.77973	-0.2386	10	0.19147	T	0.46	-20.7584	13.0313	0.58842	0.0:0.8697:0.0:0.1303	.	281	P10643	CO7_HUMAN	F	281	ENSP00000322061:S281F	ENSP00000322061:S281F	S	+	2	0	C7	40983564	0.637000	0.27216	0.998000	0.56505	0.993000	0.82548	2.782000	0.47758	2.786000	0.95864	0.650000	0.86243	TCC		0.448	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			6	72	0	0	0	1	0	6	72				
IKBKAP	8518	broad.mit.edu	37	9	111681115	111681115	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:111681115C>T	ENST00000374647.5	-	8	1023	c.716G>A	c.(715-717)gGa>gAa	p.G239E	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	239					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.G239E(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGGTCCCAGTCCTGCCACAGG	0.522																																						ENST00000374647.5																			1	Substitution - Missense(1)	p.G239E(1)	skin(1)	NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(715-717)gGa>gAa		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							97.0	101.0	100.0					9																	111681115		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111681115C>T	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.716G>A	9.37:g.111681115C>T	ENSP00000363779:p.Gly239Glu					IKBKAP_ENST00000537196.1_Intron	p.G239E	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN			8	1023	-			239					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.716G>A	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960608	0.92791	.	.	ENSG00000070061	ENST00000374647	T	0.33654	1.4	5.52	5.52	0.82312	Six-bladed beta-propeller, TolB-like (1);	0.046980	0.85682	D	0.000000	T	0.70395	0.3219	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78349	-0.2238	10	0.66056	D	0.02	-9.1987	16.9249	0.86173	0.0:1.0:0.0:0.0	.	239	O95163	ELP1_HUMAN	E	239	ENSP00000363779:G239E	ENSP00000363779:G239E	G	-	2	0	IKBKAP	110720936	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	7.244000	0.78228	2.582000	0.87167	0.655000	0.94253	GGA		0.522	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			13	58	0	0	0	1	0	13	58				
ALOX15B	247	broad.mit.edu	37	17	7948606	7948606	+	Silent	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7948606C>T	ENST00000380183.4	+	7	1039	c.900C>T	c.(898-900)acC>acT	p.T300T	ALOX15B_ENST00000573359.1_Silent_p.T300T|ALOX15B_ENST00000380173.2_Silent_p.T300T|ALOX15B_ENST00000572022.1_Silent_p.T300T	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	300	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCATCCAGACCAATGTCATTA	0.567																																						ENST00000380183.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						c.(898-900)acC>acT		arachidonate 15-lipoxygenase, type B							82.0	84.0	84.0					17																	7948606		2203	4300	6503	SO:0001819	synonymous_variant	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7948606C>T	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.900C>T	17.37:g.7948606C>T						ALOX15B_ENST00000573359.1_Silent_p.T300T|ALOX15B_ENST00000380173.2_Silent_p.T300T|ALOX15B_ENST00000572022.1_Silent_p.T300T	p.T300T	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN			7	1039	+			300			Lipoxygenase.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Silent	SNP	ENST00000380183.4	37	c.900C>T	CCDS11128.1																																																																																				0.567	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			40	31	0	0	0	1	0	40	31				
SLC9B2	133308	broad.mit.edu	37	4	103987522	103987522	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:103987522C>A	ENST00000394785.3	-	3	864	c.233G>T	c.(232-234)tGc>tTc	p.C78F	SLC9B2_ENST00000503103.1_Missense_Mutation_p.C78F|SLC9B2_ENST00000503230.1_Missense_Mutation_p.C78F|SLC9B2_ENST00000505838.1_5'UTR|SLC9B2_ENST00000362026.3_Missense_Mutation_p.C78F|SLC9B2_ENST00000339611.4_Missense_Mutation_p.C78F	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	78					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										ATGTGGAGGGCAAGCCAGCAT	0.383																																						ENST00000394785.3																			0											c.(232-234)tGc>tTc		solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2							311.0	264.0	280.0					4																	103987522		2203	4300	6503	SO:0001583	missense	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103987522C>A	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.233G>T	4.37:g.103987522C>A	ENSP00000378265:p.Cys78Phe					SLC9B2_ENST00000362026.3_Missense_Mutation_p.C78F|SLC9B2_ENST00000503230.1_Missense_Mutation_p.C78F|SLC9B2_ENST00000503103.1_Missense_Mutation_p.C78F|SLC9B2_ENST00000505838.1_5'UTR|SLC9B2_ENST00000339611.4_Missense_Mutation_p.C78F	p.C78F	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN			3	864	-			78					B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.233G>T	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338900	0.41398	.	.	ENSG00000164038	ENST00000362026;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230;ENST00000503818	T;T;T;T;T	0.71934	1.71;1.64;1.71;-0.58;-0.61	4.06	3.19	0.36642	.	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	M	0.83483	2.645	0.40626	D	0.981815	P;P;P	0.50943	0.94;0.845;0.881	P;B;B	0.45506	0.483;0.347;0.317	T	0.78344	-0.2240	10	0.87932	D	0	-2.101	10.7314	0.46098	0.1915:0.8085:0.0:0.0	.	78;78;78	B7Z676;E9PE63;Q86UD5	.;.;SL9B2_HUMAN	F	78	ENSP00000354574:C78F;ENSP00000345241:C78F;ENSP00000378265:C78F;ENSP00000425385:C78F;ENSP00000422477:C78F	ENSP00000345241:C78F	C	-	2	0	SLC9B2	104206971	1.000000	0.71417	0.969000	0.41365	0.870000	0.49936	4.205000	0.58466	0.981000	0.38548	0.585000	0.79938	TGC		0.383	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		47	46	1	0	2.01872e-29	1	2.36402e-29	47	46				
GOLGA1	2800	broad.mit.edu	37	9	127674281	127674281	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:127674281C>G	ENST00000373555.4	-	11	1201	c.868G>C	c.(868-870)Gaa>Caa	p.E290Q		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	290					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						ATAACGTCTTCTTTCTCTTGA	0.443																																						ENST00000373555.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(868-870)Gaa>Caa		golgin A1							193.0	174.0	180.0					9																	127674281		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127674281C>G	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.868G>C	9.37:g.127674281C>G	ENSP00000362656:p.Glu290Gln						p.E290Q	NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN			11	1201	-			290					Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.868G>C	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	9.957	1.221653	0.22457	.	.	ENSG00000136935	ENST00000373555	T	0.77620	-1.11	5.84	4.0	0.46444	.	0.317994	0.22261	U	0.062407	T	0.76564	0.4005	M	0.63843	1.955	0.19300	N	0.999978	P;P	0.36048	0.493;0.534	P;B	0.44359	0.447;0.261	T	0.63985	-0.6513	10	0.25106	T	0.35	-2.1322	8.1149	0.30937	0.0:0.7537:0.0:0.2463	.	189;290	Q59HA1;Q92805	.;GOGA1_HUMAN	Q	290	ENSP00000362656:E290Q	ENSP00000362656:E290Q	E	-	1	0	GOLGA1	126714102	0.998000	0.40836	0.034000	0.17996	0.041000	0.13682	1.529000	0.35996	0.815000	0.34398	0.643000	0.83706	GAA		0.443	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		16	50	0	0	0	1	0	16	50				
PAPPA2	60676	broad.mit.edu	37	1	176564553	176564553	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:176564553A>G	ENST00000367662.3	+	3	2977	c.1813A>G	c.(1813-1815)Aca>Gca	p.T605A	PAPPA2_ENST00000367661.3_Missense_Mutation_p.T605A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	605	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCACCCACTCACAGGCTATGA	0.587																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1813-1815)Aca>Gca		pappalysin 2							86.0	91.0	90.0					1																	176564553		2086	4220	6306	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564553A>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1813A>G	1.37:g.176564553A>G	ENSP00000356634:p.Thr605Ala					PAPPA2_ENST00000367661.3_Missense_Mutation_p.T605A	p.T605A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			3	2977	+			605			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1813A>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.383675	0.61845	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	D;D	0.91295	-2.82;-2.82	5.42	5.42	0.78866	Notch domain (2);	0.109570	0.64402	D	0.000009	D	0.94499	0.8229	M	0.67397	2.05	0.53688	D	0.999975	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.966	D	0.95063	0.8197	10	0.87932	D	0	-11.8279	15.1539	0.72723	1.0:0.0:0.0:0.0	.	605;605	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	A	605	ENSP00000356634:T605A;ENSP00000356633:T605A	ENSP00000356633:T605A	T	+	1	0	PAPPA2	174831176	1.000000	0.71417	0.986000	0.45419	0.293000	0.27360	9.170000	0.94795	2.057000	0.61298	0.528000	0.53228	ACA		0.587	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			12	46	0	0	0	1	0	12	46				
ARPC1B	10095	broad.mit.edu	37	7	98988690	98988690	+	Silent	SNP	C	C	T	rs138310411		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:98988690C>T	ENST00000451682.1	+	8	984	c.675C>T	c.(673-675)acC>acT	p.T225T	ARPC1B_ENST00000252725.5_Silent_p.T225T|PDAP1_ENST00000496335.1_5'Flank			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	225					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			ACGACAGCACCGTCTGCCTGG	0.622																																						ENST00000451682.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11						c.(673-675)acC>acT		actin related protein 2/3 complex, subunit 1B, 41kDa		C		1,4405	2.1+/-5.4	0,1,2202	47.0	40.0	42.0		675	-4.1	0.9	7	dbSNP_134	42	0,8600		0,0,4300	no	coding-synonymous	ARPC1B	NM_005720.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		225/373	98988690	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10095				cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr7:98988690C>T	AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	704	protein-coding gene	gene with protein product	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	604223	"""actin related protein 2/3 complex, subunit 1B (41 kD)"""			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.675C>T	7.37:g.98988690C>T						ARPC1B_ENST00000252725.5_Silent_p.T225T	p.T225T			O15143	ARC1B_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		8	984	+	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		225					Q9BU00	Silent	SNP	ENST00000451682.1	37	c.675C>T	CCDS5661.1																																																																																				0.622	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720		3	10	0	0	0	1	0	3	10				
SNHG14	104472715	broad.mit.edu	37	15	25339085	25339085	+	RNA	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:25339085G>A	ENST00000546682.1	+	0	1074				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-23_ENST00000384645.1_RNA|SNORD116-24_ENST00000384549.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		CATATGTGGCGTGGGCTTCTT	0.512																																						ENST00000546682.1																			0																																																			104472715							g.chr15:25339085G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25339085G>A						SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA		NR_003361.1						0	1074	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.512	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			8	22	0	0	0	1	0	8	22				
CEP83	51134	broad.mit.edu	37	12	94796969	94796969	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:94796969C>T	ENST00000397809.5	-	5	943	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	CCDC41_ENST00000547575.1_Missense_Mutation_p.E132K|CCDC41_ENST00000397807.2_Missense_Mutation_p.E99K|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000339839.5_Missense_Mutation_p.E132K	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		124					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CTAAAACGTTCTCTCATTGGA	0.323																																						ENST00000397809.5																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(394-396)Gaa>Aaa		coiled-coil domain containing 41							171.0	162.0	165.0					12																	94796969		1823	4080	5903	SO:0001583	missense	51134							g.chr12:94796969C>T																												ENST00000397809.5:c.394G>A	12.37:g.94796969C>T	ENSP00000380911:p.Glu132Lys					CCDC41_ENST00000339839.5_Missense_Mutation_p.E132K|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Missense_Mutation_p.E99K|CCDC41_ENST00000547575.1_Missense_Mutation_p.E132K	p.E132K	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			5	943	-			124					A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.394G>A	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140188	0.94560	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	T;T;T;D	0.90133	0.76;0.76;0.71;-2.62	5.36	5.36	0.76844	.	.	.	.	.	D	0.94089	0.8105	M	0.64997	1.995	0.48696	D	0.999698	D;D;D	0.89917	1.0;0.997;0.998	D;D;D	0.85130	0.997;0.942;0.994	D	0.92498	0.6006	9	0.28530	T	0.3	-14.6635	16.8607	0.86017	0.0:1.0:0.0:0.0	.	132;99;124	F8VYN8;Q9Y592-2;Q9Y592	.;.;CCD41_HUMAN	K	132;132;99;132	ENSP00000344655:E132K;ENSP00000380911:E132K;ENSP00000380909:E99K;ENSP00000448913:E132K	ENSP00000344655:E132K	E	-	1	0	CCDC41	93321100	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	5.975000	0.70475	2.517000	0.84864	0.585000	0.79938	GAA		0.323	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			11	43	0	0	0	1	0	11	43				
C9orf91	203197	broad.mit.edu	37	9	117399306	117399306	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:117399306C>A	ENST00000288502.4	+	7	1059	c.622C>A	c.(622-624)Cag>Aag	p.Q208K	C9orf91_ENST00000374049.4_Missense_Mutation_p.Q209K			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	208						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						GAACTGTGTGCAGTTTTTGTC	0.468																																						ENST00000374049.4																			0				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						c.(625-627)Cag>Aag		chromosome 9 open reading frame 91							167.0	141.0	150.0					9																	117399306		2203	4300	6503	SO:0001583	missense	203197					integral to membrane		g.chr9:117399306C>A	BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.622C>A	9.37:g.117399306C>A	ENSP00000288502:p.Gln208Lys					C9orf91_ENST00000288502.4_Missense_Mutation_p.Q208K	p.Q209K	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN			7	1062	+			208					A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Missense_Mutation	SNP	ENST00000288502.4	37	c.625C>A	CCDS6808.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140954	0.56936	.	.	ENSG00000157693	ENST00000374049;ENST00000288502	.	.	.	5.76	5.76	0.90799	.	0.131854	0.52532	D	0.000074	T	0.51839	0.1698	L	0.42245	1.32	0.40415	D	0.979788	P;P	0.40731	0.728;0.728	B;B	0.39339	0.297;0.297	T	0.53201	-0.8472	9	0.38643	T	0.18	-21.2708	15.4858	0.75564	0.0:1.0:0.0:0.0	.	187;208	Q5VZI3-2;Q5VZI3	.;CI091_HUMAN	K	209;208	.	ENSP00000288502:Q208K	Q	+	1	0	C9orf91	116439127	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.809000	0.38922	2.706000	0.92434	0.655000	0.94253	CAG		0.468	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053780.1	NM_153045		12	39	1	0	2.80697e-09	1	3.09695e-09	12	39				
GABRP	2568	broad.mit.edu	37	5	170235604	170235604	+	Splice_Site	SNP	G	G	A	rs267600549		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:170235604G>A	ENST00000518525.1	+	9	1144	c.680G>A	c.(679-681)gGa>gAa	p.G227E	GABRP_ENST00000519385.1_Splice_Site_p.G227E|GABRP_ENST00000265294.4_Splice_Site_p.G227E|GABRP_ENST00000519598.1_Splice_Site_p.G227E			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	227					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		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)|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)	ACCCTTTCAGGAAATTACACT	0.403																																						ENST00000518525.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29						c.e9-1		gamma-aminobutyric acid (GABA) A receptor, pi							159.0	143.0	148.0					5																	170235604		2203	4300	6503	SO:0001630	splice_region_variant	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170235604G>A	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.680-1G>A	5.37:g.170235604G>A						GABRP_ENST00000519598.1_Splice_Site_p.G227_splice|GABRP_ENST00000265294.4_Splice_Site_p.G227_splice|GABRP_ENST00000519385.1_Splice_Site_p.G227_splice	p.G227_splice			O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		9	1144	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	227					A8KA36|D3DQL2|Q32MJ1	Splice_Site	SNP	ENST00000518525.1	37	c.679_splice	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168648	0.57584	.	.	ENSG00000094755	ENST00000518525;ENST00000539175;ENST00000265294;ENST00000519385;ENST00000519598	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	4.94	4.07	0.47477	Neurotransmitter-gated ion-channel ligand-binding (3);	0.102441	0.64402	D	0.000002	D	0.89722	0.6797	M	0.91717	3.235	0.80722	D	1	B;D	0.89917	0.291;1.0	B;D	0.97110	0.231;1.0	D	0.91553	0.5258	9	.	.	.	.	13.491	0.61395	0.077:0.0:0.923:0.0	.	227;227	E7EWG0;O00591	.;GBRP_HUMAN	E	227;125;227;227;227	ENSP00000430100:G227E;ENSP00000265294:G227E;ENSP00000430727:G227E;ENSP00000430772:G227E	.	G	+	2	0	GABRP	170168182	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	9.800000	0.99124	1.199000	0.43173	0.655000	0.94253	GGA		0.403	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211	Missense_Mutation	10	33	0	0	0	1	0	10	33				
SLC28A1	9154	broad.mit.edu	37	15	85486741	85486741	+	Silent	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:85486741C>T	ENST00000286749.3	+	15	1737	c.1647C>T	c.(1645-1647)atC>atT	p.I549I	SLC28A1_ENST00000394573.1_Silent_p.I549I|SLC28A1_ENST00000537624.1_Silent_p.I549I|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000538177.1_Silent_p.I383I			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	549					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CCATTGGGATCATGCTGGGAG	0.522																																						ENST00000394573.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1645-1647)atC>atT		solute carrier family 28 (concentrative nucleoside transporter), member 1							115.0	91.0	99.0					15																	85486741		2203	4299	6502	SO:0001819	synonymous_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85486741C>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1647C>T	15.37:g.85486741C>T						SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000538177.1_Silent_p.I383I|SLC28A1_ENST00000537624.1_Silent_p.I549I|SLC28A1_ENST00000286749.3_Silent_p.I549I	p.I549I	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		16	1849	+			549					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	c.1647C>T	CCDS10334.1																																																																																				0.522	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			12	43	0	0	0	1	0	12	43				
STAT6	6778	broad.mit.edu	37	12	57490672	57490672	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:57490672C>T	ENST00000300134.3	-	21	2640	c.2315G>A	c.(2314-2316)tGc>tAc	p.C772Y	STAT6_ENST00000538913.2_Missense_Mutation_p.C662Y|STAT6_ENST00000537215.2_Missense_Mutation_p.C662Y|STAT6_ENST00000454075.3_Missense_Mutation_p.C772Y|STAT6_ENST00000543873.2_Missense_Mutation_p.C772Y|STAT6_ENST00000556155.1_Missense_Mutation_p.C772Y	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	772					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTGGCTCAGGCAGCTGTCTTC	0.642																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(2314-2316)tGc>tAc		signal transducer and activator of transcription 6, interleukin-4 induced							50.0	47.0	48.0					12																	57490672		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57490672C>T	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.2315G>A	12.37:g.57490672C>T	ENSP00000300134:p.Cys772Tyr					STAT6_ENST00000537215.2_Missense_Mutation_p.C662Y|STAT6_ENST00000556155.1_Missense_Mutation_p.C772Y|STAT6_ENST00000543873.2_Missense_Mutation_p.C772Y|STAT6_ENST00000538913.2_Missense_Mutation_p.C662Y|STAT6_ENST00000454075.3_Missense_Mutation_p.C772Y	p.C772Y	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			21	2640	-			772					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.2315G>A	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949601	0.53186	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721	D;D;D;D;D;D	0.92397	-2.79;-3.03;-2.79;-2.79;-3.03;-2.79	4.87	4.87	0.63330	.	0.475564	0.20115	N	0.098921	D	0.87087	0.6090	N	0.24115	0.695	0.34682	D	0.724782	P;P	0.42785	0.79;0.79	B;B	0.41723	0.365;0.365	D	0.91590	0.5286	10	0.72032	D	0.01	-8.3535	13.3934	0.60836	0.0:1.0:0.0:0.0	.	772;772	A8K4S9;P42226	.;STAT6_HUMAN	Y	772;662;662;772;772;662;772;662	ENSP00000300134:C772Y;ENSP00000445409:C662Y;ENSP00000438451:C772Y;ENSP00000451742:C772Y;ENSP00000444530:C662Y;ENSP00000401486:C772Y	ENSP00000300134:C772Y	C	-	2	0	STAT6	55776939	0.911000	0.30947	1.000000	0.80357	0.965000	0.64279	1.974000	0.40559	2.537000	0.85549	0.561000	0.74099	TGC		0.642	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		20	29	0	0	0	1	0	20	29				
BMF	90427	broad.mit.edu	37	15	40396470	40396470	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:40396470C>T	ENST00000354670.4	-	4	598	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	BMF_ENST00000397573.1_Missense_Mutation_p.E122K|BMF_ENST00000220446.4_Intron|BMF_ENST00000561282.1_Missense_Mutation_p.E122K|BMF_ENST00000561360.1_Missense_Mutation_p.E122K|BMF_ENST00000558774.1_Intron|BMF_ENST00000431415.3_Missense_Mutation_p.E122K|BMF_ENST00000559701.1_Intron	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	122					anoikis (GO:0043276)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		CACTGCCCTTCGGGGGGCTGC	0.572																																						ENST00000354670.4																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6						c.(364-366)Gaa>Aaa		Bcl2 modifying factor							140.0	131.0	134.0					15																	40396470		2203	4300	6503	SO:0001583	missense	90427				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding	g.chr15:40396470C>T	BC060783	CCDS10052.1, CCDS32196.1, CCDS45223.1	15q14	2014-03-07			ENSG00000104081	ENSG00000104081			24132	protein-coding gene	gene with protein product		606266				11546872	Standard	NM_001003943		Approved	FLJ00065	uc001zkw.4	Q96LC9	OTTHUMG00000129875	ENST00000354670.4:c.364G>A	15.37:g.40396470C>T	ENSP00000346697:p.Glu122Lys					BMF_ENST00000558774.1_Intron|BMF_ENST00000431415.3_Missense_Mutation_p.E122K|BMF_ENST00000397573.1_Missense_Mutation_p.E122K|BMF_ENST00000561282.1_Missense_Mutation_p.E122K|BMF_ENST00000220446.4_Intron|BMF_ENST00000561360.1_Missense_Mutation_p.E122K|BMF_ENST00000559701.1_Intron	p.E122K	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)	4	598	-		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	122					Q2M396|Q6NT30|Q6NT56|Q6P9F6|Q7Z7D4|Q7Z7D5|Q9H7K7	Missense_Mutation	SNP	ENST00000354670.4	37	c.364G>A	CCDS10052.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170933	0.57584	.	.	ENSG00000104081	ENST00000354670;ENST00000397573;ENST00000431415	.	.	.	5.81	5.81	0.92471	.	0.160556	0.43747	D	0.000532	T	0.60366	0.2263	L	0.27053	0.805	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.59546	0.859;0.859	T	0.62821	-0.6773	9	0.66056	D	0.02	0.0248	13.2865	0.60245	0.0:0.9278:0.0:0.0722	.	122;122	Q96LC9;Q96LC9-2	BMF_HUMAN;.	K	122	.	ENSP00000346697:E122K	E	-	1	0	BMF	38183762	0.996000	0.38824	1.000000	0.80357	0.931000	0.56810	3.575000	0.53870	2.745000	0.94114	0.655000	0.94253	GAA		0.572	BMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252119.1	NM_033503		41	83	0	0	0	1	0	41	83				
COL6A6	131873	broad.mit.edu	37	3	130305488	130305488	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:130305488G>A	ENST00000358511.6	+	10	4140	c.4109G>A	c.(4108-4110)cGg>cAg	p.R1370Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1370Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1370	Nonhelical region.|VWFA 7. {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						CTTGGAAGCCGGCTGTCAAAG	0.373																																						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.(4108-4110)cGg>cAg		collagen, type VI, alpha 6							77.0	74.0	75.0					3																	130305488		1820	4084	5904	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130305488G>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.4109G>A	3.37:g.130305488G>A	ENSP00000351310:p.Arg1370Gln					COL6A6_ENST00000453409.2_Missense_Mutation_p.R1370Q	p.R1370Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			10	4140	+			1370			Nonhelical region.|VWFA 7.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.4109G>A	CCDS46911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.425|1.425	-0.571810|-0.571810	0.03882|0.03882	.|.	.|.	ENSG00000206384|ENSG00000206384	ENST00000511332|ENST00000358511;ENST00000453409	.|D;D	.|0.88586	.|-2.39;-2.4	5.65|5.65	-3.32|-3.32	0.04973|0.04973	.|von Willebrand factor, type A (2);	.|1.005570	.|0.08011	.|N	.|0.990419	T|T	0.72495|0.72495	0.3467|0.3467	N|N	0.03115|0.03115	-0.41|-0.41	0.09310|0.09310	N|N	1|1	.|B	.|0.16603	.|0.018	.|B	.|0.08055	.|0.003	T|T	0.57412|0.57412	-0.7816|-0.7816	5|10	.|0.10111	.|T	.|0.7	.|.	13.8601|13.8601	0.63554|0.63554	0.6321:0.0:0.3679:0.0|0.6321:0.0:0.3679:0.0	.|.	.|1370	.|A6NMZ7	.|CO6A6_HUMAN	S|Q	128|1370	.|ENSP00000351310:R1370Q;ENSP00000399236:R1370Q	.|ENSP00000351310:R1370Q	G|R	+|+	1|2	0|0	COL6A6|COL6A6	131788178|131788178	0.000000|0.000000	0.05858|0.05858	0.021000|0.021000	0.16686|0.16686	0.208000|0.208000	0.24298|0.24298	-1.628000|-1.628000	0.02031|0.02031	-0.633000|-0.633000	0.05545|0.05545	0.650000|0.650000	0.86243|0.86243	GGC|CGG		0.373	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		33	31	0	0	0	1	0	33	31				
TAS2R3	50831	broad.mit.edu	37	7	141464576	141464576	+	Silent	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:141464576C>T	ENST00000247879.2	+	1	680	c.618C>T	c.(616-618)tcC>tcT	p.S206S	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	206					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					TCATCTTCTCCCTGGGGAGGC	0.517																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(616-618)tcC>tcT		taste receptor, type 2, member 3							108.0	93.0	98.0					7																	141464576		2203	4300	6503	SO:0001819	synonymous_variant	50831				sensory perception of taste		taste receptor activity	g.chr7:141464576C>T	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.618C>T	7.37:g.141464576C>T						SSBP1_ENST00000465582.1_Intron	p.S206S	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN			1	680	+	Melanoma(164;0.0171)		206					A4D1U2|Q645W2|Q75MV6	Silent	SNP	ENST00000247879.2	37	c.618C>T	CCDS5867.1																																																																																				0.517	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			7	51	0	0	0	1	0	7	51				
FSTL5	56884	broad.mit.edu	37	4	163032436	163032436	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:163032436C>G	ENST00000306100.5	-	2	549	c.113G>C	c.(112-114)aGa>aCa	p.R38T	FSTL5_ENST00000379164.4_Missense_Mutation_p.R38T|FSTL5_ENST00000536695.1_Missense_Mutation_p.R38T|FSTL5_ENST00000427802.2_Missense_Mutation_p.R38T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	38						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATGTCGCAATCTCATTAGAGG	0.403																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(112-114)aGa>aCa		follistatin-like 5							182.0	177.0	179.0					4																	163032436		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:163032436C>G	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.113G>C	4.37:g.163032436C>G	ENSP00000305334:p.Arg38Thr					FSTL5_ENST00000379164.4_Missense_Mutation_p.R38T|FSTL5_ENST00000536695.1_Missense_Mutation_p.R38T|FSTL5_ENST00000427802.2_Missense_Mutation_p.R38T	p.R38T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	2	549	-	all_hematologic(180;0.24)		38					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.113G>C	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515553	0.64634	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.76839	-1.05;-1.01;-1.03;-1.01	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.84188	0.5417	L	0.47716	1.5	0.38320	D	0.943497	D;D;D	0.61080	0.981;0.989;0.981	D;D;D	0.75020	0.95;0.985;0.966	D	0.86239	0.1642	10	0.72032	D	0.01	.	15.2632	0.73640	0.0:1.0:0.0:0.0	.	38;38;38	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	T	38	ENSP00000305334:R38T;ENSP00000368462:R38T;ENSP00000389270:R38T;ENSP00000440409:R38T	ENSP00000305334:R38T	R	-	2	0	FSTL5	163251886	1.000000	0.71417	0.972000	0.41901	0.961000	0.63080	4.955000	0.63638	2.761000	0.94854	0.585000	0.79938	AGA		0.403	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		21	31	0	0	0	1	0	21	31				
ZNF214	7761	broad.mit.edu	37	11	7022103	7022103	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:7022103C>T	ENST00000278314.4	-	3	1126	c.811G>A	c.(811-813)Ggt>Agt	p.G271S	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Missense_Mutation_p.G271S	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		AGCTTCTTACCTATGTGGTTT	0.433																																					Ovarian(22;251 657 736 21522 46864)	ENST00000278314.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(811-813)Ggt>Agt		zinc finger protein 214							124.0	119.0	120.0					11																	7022103		2201	4295	6496	SO:0001583	missense	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7022103C>T	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.811G>A	11.37:g.7022103C>T	ENSP00000278314:p.Gly271Ser					ZNF214_ENST00000536068.1_Missense_Mutation_p.G271S	p.G271S	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	1126	-			271					B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.811G>A	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022444	0.35701	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.20332	2.08;2.08	3.75	2.71	0.32032	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.677027	0.12907	N	0.429247	T	0.36853	0.0982	H	0.96333	3.805	0.33402	D	0.577452	B	0.29508	0.246	B	0.28916	0.096	T	0.52117	-0.8618	10	0.87932	D	0	.	7.1854	0.25797	0.0:0.822:0.0:0.178	.	271	Q9UL59	ZN214_HUMAN	S	271	ENSP00000278314:G271S;ENSP00000445373:G271S	ENSP00000278314:G271S	G	-	1	0	ZNF214	6978679	0.077000	0.21312	0.027000	0.17364	0.466000	0.32739	2.045000	0.41250	0.896000	0.36366	0.650000	0.86243	GGT		0.433	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			21	74	0	0	0	1	0	21	74				
AXIN1	8312	broad.mit.edu	37	16	360043	360043	+	Missense_Mutation	SNP	C	C	T	rs36045489		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr16:360043C>T	ENST00000262320.3	-	4	1417	c.1046G>A	c.(1045-1047)cGt>cAt	p.R349H	AXIN1_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Missense_Mutation_p.R349H	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	349	Interaction with GSK3B. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GTGCTGCTTACGGATCCTGTA	0.612																																						ENST00000262320.3																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221	GRCh37	CM043742	AXIN1	M	rs36045489	c.(1045-1047)cGt>cAt		axin 1		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	83.0	53.0	63.0		1046,1046	3.8	0.9	16	dbSNP_126	63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AXIN1	NM_003502.3,NM_181050.2	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	349/863,349/827	360043	2,13004	2203	4300	6503	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:360043C>T	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1046G>A	16.37:g.360043C>T	ENSP00000262320:p.Arg349His					AXIN1_ENST00000354866.3_Missense_Mutation_p.R349H|AXIN1_ENST00000481769.1_5'UTR	p.R349H	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			4	1417	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	349			Interaction with GSK3B (By similarity).		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.1046G>A	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314980	0.40996	2.27E-4	1.16E-4	ENSG00000103126	ENST00000262320;ENST00000354866	D;D	0.82711	-1.64;-1.64	4.84	3.84	0.44239	.	0.057737	0.64402	D	0.000001	D	0.82554	0.5062	M	0.78801	2.425	0.58432	D	0.999996	B;B	0.16802	0.015;0.019	B;B	0.18263	0.021;0.013	T	0.81446	-0.0929	10	0.42905	T	0.14	14.04	14.4783	0.67562	0.1474:0.8526:0.0:0.0	rs36045489	349;349	O15169-2;O15169	.;AXIN1_HUMAN	H	349	ENSP00000262320:R349H;ENSP00000346935:R349H	ENSP00000262320:R349H	R	-	2	0	AXIN1	300044	1.000000	0.71417	0.941000	0.38009	0.200000	0.23975	5.801000	0.69115	2.257000	0.74773	0.456000	0.33151	CGT		0.612	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			3	17	0	0	0	1	0	3	17				
SAMD9L	219285	broad.mit.edu	37	7	92762251	92762251	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:92762251C>T	ENST00000318238.4	-	5	4250	c.3034G>A	c.(3034-3036)Gca>Aca	p.A1012T	SAMD9L_ENST00000411955.1_Missense_Mutation_p.A1012T|SAMD9L_ENST00000437805.1_Missense_Mutation_p.A1012T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1012					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATATTCAATGCAATTTGACAT	0.363																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(3034-3036)Gca>Aca		sterile alpha motif domain containing 9-like							55.0	58.0	57.0					7																	92762251		2203	4297	6500	SO:0001583	missense	219285							g.chr7:92762251C>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3034G>A	7.37:g.92762251C>T	ENSP00000326247:p.Ala1012Thr					SAMD9L_ENST00000411955.1_Missense_Mutation_p.A1012T|SAMD9L_ENST00000437805.1_Missense_Mutation_p.A1012T	p.A1012T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	4250	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1012					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.3034G>A	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	1.395	-0.579694	0.03854	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.22539	1.95;1.95;1.95	5.11	3.27	0.37495	.	0.282256	0.31461	N	0.007609	T	0.12433	0.0302	L	0.29908	0.895	0.23765	N	0.996901	B	0.23377	0.084	B	0.20184	0.028	T	0.20840	-1.0263	10	0.20046	T	0.44	-15.8259	6.4058	0.21664	0.0:0.6257:0.0:0.3743	.	1012	Q8IVG5	SAM9L_HUMAN	T	1012	ENSP00000326247:A1012T;ENSP00000405760:A1012T;ENSP00000408796:A1012T	ENSP00000326247:A1012T	A	-	1	0	SAMD9L	92600187	0.001000	0.12720	0.645000	0.29479	0.013000	0.08279	0.428000	0.21395	1.390000	0.46547	0.467000	0.42956	GCA		0.363	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		26	31	0	0	0	1	0	26	31				
NAGLU	4669	broad.mit.edu	37	17	40690691	40690691	+	Missense_Mutation	SNP	C	C	T	rs368907396		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:40690691C>T	ENST00000225927.2	+	4	783	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	228					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCTCCAGCACCGGGTCCTGGA	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17841	0.0		0.0	False		,,,				2504	0.0					ENST00000225927.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12						c.(682-684)Cgg>Tgg		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	54.0	59.0		682	4.2	0.9	17		59	0,8600		0,0,4300	no	missense	NAGLU	NM_000263.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	228/744	40690691	1,13005	2203	4300	6503	SO:0001583	missense	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40690691C>T		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.682C>T	17.37:g.40690691C>T	ENSP00000225927:p.Arg228Trp					RP11-400F19.8_ENST00000585572.1_RNA	p.R228W	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	4	783	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	228						Missense_Mutation	SNP	ENST00000225927.2	37	c.682C>T	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908873	0.52439	2.27E-4	0.0	ENSG00000108784	ENST00000225927	D	0.99089	-5.41	5.18	4.21	0.49690	Alpha-N-acetylglucosaminidase, tim-barrel domain (1);	0.270342	0.36778	N	0.002412	D	0.99080	0.9684	M	0.83483	2.645	0.38521	D	0.948716	D	0.89917	1.0	P	0.62885	0.908	D	0.99911	1.1202	10	0.87932	D	0	-22.6975	12.6654	0.56840	0.0:0.9183:0.0:0.0817	.	228	P54802	ANAG_HUMAN	W	228	ENSP00000225927:R228W	ENSP00000225927:R228W	R	+	1	2	NAGLU	37944217	0.998000	0.40836	0.895000	0.35142	0.253000	0.25986	3.237000	0.51344	1.170000	0.42753	-0.263000	0.10527	CGG		0.627	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		10	43	0	0	0	1	0	10	43				
CECR6	27439	broad.mit.edu	37	22	17600347	17600347	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr22:17600347G>T	ENST00000331437.3	-	1	1796	c.1671C>A	c.(1669-1671)tgC>tgA	p.C557*	CECR6_ENST00000399875.1_Nonsense_Mutation_p.C202*|AC006946.15_ENST00000441544.1_5'Flank	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	557										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		TCTCCGAGATGCAGTGGCCCA	0.662																																						ENST00000331437.3																			0				haematopoietic_and_lymphoid_tissue(1)	1						c.(1669-1671)tgC>tgA		cat eye syndrome chromosome region, candidate 6							24.0	22.0	23.0					22																	17600347		2202	4300	6502	SO:0001587	stop_gained	27439							g.chr22:17600347G>T	AF307451	CCDS13740.1, CCDS54494.1	22q11.2	2008-06-12			ENSG00000183307	ENSG00000183307			1844	protein-coding gene	gene with protein product						11381032	Standard	NM_031890		Approved		uc002zmb.2	Q9BXQ6	OTTHUMG00000030471	ENST00000331437.3:c.1671C>A	22.37:g.17600347G>T	ENSP00000329318:p.Cys557*					CECR6_ENST00000399875.1_Nonsense_Mutation_p.C202*	p.C557*	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN		Colorectal(9;0.221)	1	1796	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	557					A8MYY1	Nonsense_Mutation	SNP	ENST00000331437.3	37	c.1671C>A	CCDS13740.1	.	.	.	.	.	.	.	.	.	.	G	38	6.970745	0.97971	.	.	ENSG00000183307	ENST00000399875;ENST00000331437	.	.	.	3.86	2.84	0.33178	.	0.077738	0.52532	U	0.000080	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.4884	0.11801	0.21:0.2047:0.5853:0.0	.	.	.	.	X	202;557	.	ENSP00000329318:C557X	C	-	3	2	CECR6	15980347	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	3.209000	0.51122	0.968000	0.38212	0.561000	0.74099	TGC		0.662	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075359.4	NM_031890		7	22	1	0	0.00307968	1	0.00313845	7	22				
CD200R1L	344807	broad.mit.edu	37	3	112546292	112546292	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:112546292T>C	ENST00000398214.1	-	3	577	c.352A>G	c.(352-354)Act>Gct	p.T118A	CD200R1L_ENST00000488794.1_Missense_Mutation_p.T97A|CD200R1L_ENST00000448932.1_Missense_Mutation_p.T97A	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	118	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CCGTCATGAGTGGTGTCCACC	0.463																																						ENST00000488794.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(289-291)Act>Gct		CD200 receptor 1-like							142.0	138.0	139.0					3																	112546292		2203	4300	6503	SO:0001583	missense	344807					integral to membrane	receptor activity	g.chr3:112546292T>C	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.352A>G	3.37:g.112546292T>C	ENSP00000381272:p.Thr118Ala					CD200R1L_ENST00000398214.1_Missense_Mutation_p.T118A|CD200R1L_ENST00000448932.1_Missense_Mutation_p.T97A	p.T97A			Q6Q8B3	MO2R2_HUMAN			5	878	-			118			Ig-like V-type.		Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	c.289A>G	CCDS43131.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.625734	0.46840	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.28666	1.6;1.6;1.6	3.99	-1.33	0.09172	Immunoglobulin-like fold (1);	0.922940	0.09309	N	0.819805	T	0.22282	0.0537	L	0.39245	1.2	0.09310	N	1	D	0.53312	0.959	P	0.47744	0.556	T	0.13899	-1.0492	10	0.19590	T	0.45	.	0.4008	0.00425	0.1817:0.2146:0.1878:0.4158	.	118	Q6Q8B3	MO2R2_HUMAN	A	118;97;97	ENSP00000381272:T118A;ENSP00000418413:T97A;ENSP00000415132:T97A	ENSP00000381272:T118A	T	-	1	0	CD200R1L	114028982	0.000000	0.05858	0.058000	0.19502	0.180000	0.23129	-1.255000	0.02872	-0.095000	0.12351	-0.336000	0.08194	ACT		0.463	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		56	97	0	0	0	1	0	56	97				
BLZF1	8548	broad.mit.edu	37	1	169345982	169345982	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:169345982C>G	ENST00000367808.3	+	3	656	c.233C>G	c.(232-234)gCt>gGt	p.A78G	BLZF1_ENST00000367807.3_Missense_Mutation_p.A78G|BLZF1_ENST00000329281.2_Missense_Mutation_p.A78G			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	78					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GAAGTTAAAGCTGTAAGAATA	0.403																																						ENST00000367808.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14						c.(232-234)gCt>gGt		basic leucine zipper nuclear factor 1							116.0	126.0	123.0					1																	169345982		2202	4300	6502	SO:0001583	missense	8548				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr1:169345982C>G	U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.233C>G	1.37:g.169345982C>G	ENSP00000356782:p.Ala78Gly					BLZF1_ENST00000367807.3_Missense_Mutation_p.A78G|BLZF1_ENST00000329281.2_Missense_Mutation_p.A78G	p.A78G			Q9H2G9	GO45_HUMAN			3	656	+	all_hematologic(923;0.208)		78					O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	ENST00000367808.3	37	c.233C>G	CCDS1278.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921913	0.92319	.	.	ENSG00000117475	ENST00000367808;ENST00000329281;ENST00000367807;ENST00000420531;ENST00000426663	T;T;T;T;T	0.65916	1.04;1.04;-0.03;-0.18;1.03	5.4	5.4	0.78164	.	0.097390	0.64402	D	0.000001	T	0.76557	0.4004	M	0.74881	2.28	0.48087	D	0.999587	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.979;0.979;0.999	T	0.78018	-0.2368	9	0.59425	D	0.04	-5.9494	19.1919	0.93671	0.0:1.0:0.0:0.0	.	78;78;78	A8K6R0;Q9H2G9;Q9H2G9-2	.;GO45_HUMAN;.	G	78	ENSP00000356782:A78G;ENSP00000327541:A78G;ENSP00000356781:A78G;ENSP00000414668:A78G;ENSP00000404408:A78G	ENSP00000327541:A78G	A	+	2	0	BLZF1	167612606	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.140000	0.77322	2.537000	0.85549	0.655000	0.94253	GCT		0.403	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1	NM_003666		16	49	0	0	0	1	0	16	49				
ESRRG	2104	broad.mit.edu	37	1	216737575	216737575	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:216737575G>A	ENST00000408911.3	-	5	1001	c.848C>T	c.(847-849)gCg>gTg	p.A283V	ESRRG_ENST00000361395.2_Missense_Mutation_p.A260V|ESRRG_ENST00000359162.2_Missense_Mutation_p.A260V|ESRRG_ENST00000487276.1_Missense_Mutation_p.A260V|ESRRG_ENST00000366940.2_Missense_Mutation_p.A260V|ESRRG_ENST00000366938.2_Missense_Mutation_p.A260V|ESRRG_ENST00000366937.1_Missense_Mutation_p.A295V|ESRRG_ENST00000463665.1_Missense_Mutation_p.A221V|ESRRG_ENST00000493603.1_Missense_Mutation_p.A260V|ESRRG_ENST00000391890.3_Missense_Mutation_p.A267V|ESRRG_ENST00000360012.3_Missense_Mutation_p.A260V|ESRRG_ENST00000493748.1_Missense_Mutation_p.A260V|ESRRG_ENST00000361525.3_Missense_Mutation_p.A260V	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	283					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	AATATGCTTCGCCCATCCAAT	0.418																																						ENST00000391890.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(799-801)gCg>gTg		estrogen-related receptor gamma	Diethylstilbestrol(DB00255)						136.0	124.0	128.0					1																	216737575		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216737575G>A	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.848C>T	1.37:g.216737575G>A	ENSP00000386171:p.Ala283Val					ESRRG_ENST00000359162.2_Missense_Mutation_p.A260V|ESRRG_ENST00000366937.1_Missense_Mutation_p.A295V|ESRRG_ENST00000463665.1_Missense_Mutation_p.A221V|ESRRG_ENST00000361525.3_Missense_Mutation_p.A260V|ESRRG_ENST00000493748.1_Missense_Mutation_p.A260V|ESRRG_ENST00000493603.1_Missense_Mutation_p.A260V|ESRRG_ENST00000360012.3_Missense_Mutation_p.A260V|ESRRG_ENST00000361395.2_Missense_Mutation_p.A260V|ESRRG_ENST00000487276.1_Missense_Mutation_p.A260V|ESRRG_ENST00000408911.3_Missense_Mutation_p.A283V|ESRRG_ENST00000366940.2_Missense_Mutation_p.A260V|ESRRG_ENST00000366938.2_Missense_Mutation_p.A260V	p.A267V	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	7	1317	-			283					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.800C>T	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806256	0.90623	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;T;D;D;D	0.99523	-6.08;-6.08;-6.08;-6.08;-6.08;-6.08;-6.08;-6.08;-6.08;-6.08;-0.1;-6.08;-6.08;-6.08	5.45	4.5	0.54988	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.098508	0.64402	D	0.000001	D	0.99654	0.9872	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.971;0.983	D	0.97543	1.0087	10	0.87932	D	0	.	15.83	0.78743	0.0:0.1364:0.8636:0.0	.	221;295;283	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	V	260;260;295;283;260;260;260;260;260;267;221;260;260;260;260	ENSP00000355225:A260V;ENSP00000355907:A260V;ENSP00000355904:A295V;ENSP00000386171:A283V;ENSP00000352077:A260V;ENSP00000354584:A260V;ENSP00000355905:A260V;ENSP00000353108:A260V;ENSP00000419594:A260V;ENSP00000375761:A267V;ENSP00000418629:A221V;ENSP00000419155:A260V;ENSP00000417374:A260V;ENSP00000419514:A260V	ENSP00000346386:A260V	A	-	2	0	ESRRG	214804198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	1.219000	0.43474	0.650000	0.86243	GCG		0.418	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		13	41	0	0	0	1	0	13	41				
ANXA2R	389289	broad.mit.edu	37	5	43040113	43040113	+	Silent	SNP	A	A	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:43040113A>C	ENST00000314890.3	-	2	1455	c.36T>G	c.(34-36)gcT>gcG	p.A12A	AC025171.1_ENST00000505541.1_RNA|AC025171.1_ENST00000451894.2_RNA	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	12																	CGGAATCCCAAGCCCGCTTCA	0.562											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000314890.3																			0											c.(34-36)gcT>gcG		annexin A2 receptor							38.0	44.0	42.0					5																	43040113		2201	4300	6501	SO:0001819	synonymous_variant	389289						receptor activity	g.chr5:43040113A>C	BC067873	CCDS34153.1	5p12	2013-08-14	2012-03-09	2012-03-09	ENSG00000177721	ENSG00000177721			33463	protein-coding gene	gene with protein product		611296	"""chromosome 5 open reading frame 39"""	C5orf39		16895901, 18636554	Standard	NM_001014279		Approved	AXIIR	uc003jnf.3	Q3ZCQ2	OTTHUMG00000162232	ENST00000314890.3:c.36T>G	5.37:g.43040113A>C			OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913		p.A12A	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN			2	1455	-			12					Q8NHX5	Silent	SNP	ENST00000314890.3	37	c.36T>G	CCDS34153.1																																																																																				0.562	ANXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368030.1	NM_001014279		54	41	0	0	0	1	0	54	41				
LOXL3	84695	broad.mit.edu	37	2	74779668	74779668	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:74779668C>T	ENST00000264094.3	-	2	165	c.94G>A	c.(94-96)Ggc>Agc	p.G32S	LOXL3_ENST00000393937.2_Missense_Mutation_p.G32S|LOXL3_ENST00000484369.1_5'UTR|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000409249.1_Missense_Mutation_p.G32S|DOK1_ENST00000233668.5_5'Flank|LOXL3_ENST00000409549.1_Missense_Mutation_p.G32S|DOK1_ENST00000340004.6_5'Flank|LOXL3_ENST00000409986.1_Missense_Mutation_p.G32S	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	32					epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TTCTCAGGGCCCGTGGAAGGG	0.677																																						ENST00000264094.3																			0				endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(94-96)Ggc>Agc		lysyl oxidase-like 3							14.0	16.0	15.0					2																	74779668		2199	4293	6492	SO:0001583	missense	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74779668C>T	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.94G>A	2.37:g.74779668C>T	ENSP00000264094:p.Gly32Ser					DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000393937.2_Missense_Mutation_p.G32S|LOXL3_ENST00000409986.1_Missense_Mutation_p.G32S|LOXL3_ENST00000409249.1_Missense_Mutation_p.G32S|LOXL3_ENST00000409549.1_Missense_Mutation_p.G32S|LOXL3_ENST00000484369.1_5'UTR	p.G32S	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN			2	165	-			32					D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	c.94G>A	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	C	5.219	0.225998	0.09916	.	.	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000393937;ENST00000409549;ENST00000409986;ENST00000413469	T;T;T;T;T;T	0.01252	5.21;5.1;5.19;5.24;5.19;5.1	4.72	1.58	0.23477	.	1.798660	0.03329	N	0.193072	T	0.00875	0.0029	N	0.02539	-0.55	0.09310	N	0.999994	B;B;B;B	0.23806	0.03;0.002;0.091;0.0	B;B;B;B	0.25506	0.031;0.003;0.061;0.0	T	0.44143	-0.9347	10	0.14656	T	0.56	.	6.249	0.20835	0.0:0.6604:0.0:0.3396	.	32;32;32;32	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	S	32	ENSP00000264094:G32S;ENSP00000387103:G32S;ENSP00000377512:G32S;ENSP00000386696:G32S;ENSP00000386545:G32S;ENSP00000398260:G32S	ENSP00000264094:G32S	G	-	1	0	LOXL3	74633176	0.000000	0.05858	0.077000	0.20336	0.945000	0.59286	-0.101000	0.10973	0.562000	0.29204	0.555000	0.69702	GGC		0.677	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		15	24	0	0	0	1	0	15	24				
SERINC3	10955	broad.mit.edu	37	20	43129789	43129789	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr20:43129789T>C	ENST00000342374.4	-	9	1365	c.1208A>G	c.(1207-1209)tAt>tGt	p.Y403C	SERINC3_ENST00000541235.1_Missense_Mutation_p.Y348C|SERINC3_ENST00000255175.1_Missense_Mutation_p.Y403C	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	403					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GGAGTAGCTATACTGCACTCC	0.512																																						ENST00000342374.4																			0				endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18						c.(1207-1209)tAt>tGt		serine incorporator 3							172.0	149.0	157.0					20																	43129789		2203	4300	6503	SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43129789T>C	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.1208A>G	20.37:g.43129789T>C	ENSP00000340243:p.Tyr403Cys					SERINC3_ENST00000541235.1_Missense_Mutation_p.Y348C|SERINC3_ENST00000255175.1_Missense_Mutation_p.Y403C	p.Y403C	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		9	1365	-		Myeloproliferative disorder(115;0.0122)	403					B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	c.1208A>G	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.648926	0.87958	.	.	ENSG00000132824	ENST00000411544;ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.4	5.4	0.78164	.	0.054502	0.85682	D	0.000000	T	0.66036	0.2749	H	0.96460	3.825	0.80722	D	1	B;B	0.31640	0.333;0.154	P;B	0.50352	0.638;0.424	T	0.73219	-0.4052	10	0.87932	D	0	.	15.5933	0.76558	0.0:0.0:0.0:1.0	.	403;403	Q53GK8;Q13530	.;SERC3_HUMAN	C	142;403;403;370;348	ENSP00000414197:Y142C;ENSP00000255175:Y403C;ENSP00000340243:Y403C;ENSP00000440966:Y348C	ENSP00000255175:Y403C	Y	-	2	0	SERINC3	42563203	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.746000	0.85057	2.270000	0.75569	0.460000	0.39030	TAT		0.512	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		34	34	0	0	0	1	0	34	34				
TAS2R3	50831	broad.mit.edu	37	7	141464575	141464575	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:141464575C>T	ENST00000247879.2	+	1	679	c.617C>T	c.(616-618)tCc>tTc	p.S206F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	206					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					CTCATCTTCTCCCTGGGGAGG	0.517																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(616-618)tCc>tTc		taste receptor, type 2, member 3							110.0	94.0	99.0					7																	141464575		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464575C>T	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.617C>T	7.37:g.141464575C>T	ENSP00000247879:p.Ser206Phe					SSBP1_ENST00000465582.1_Intron	p.S206F	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN			1	679	+	Melanoma(164;0.0171)		206					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.617C>T	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037773	0.75617	.	.	ENSG00000127362	ENST00000247879	T	0.01572	4.76	5.93	5.93	0.95920	.	0.139926	0.48767	D	0.000171	T	0.14399	0.0348	M	0.88181	2.935	0.44547	D	0.997503	D	0.89917	1.0	D	0.97110	1.0	T	0.00034	-1.2268	10	0.87932	D	0	.	17.8301	0.88679	0.0:1.0:0.0:0.0	.	206	Q9NYW6	TA2R3_HUMAN	F	206	ENSP00000247879:S206F	ENSP00000247879:S206F	S	+	2	0	TAS2R3	141111044	0.994000	0.37717	0.996000	0.52242	0.630000	0.37929	3.599000	0.54045	2.814000	0.96858	0.563000	0.77884	TCC		0.517	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			9	52	0	0	0	1	0	9	52				
CARD17	440068	broad.mit.edu	37	11	104971256	104971256	+	Silent	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:104971256C>T	ENST00000375707.1	-	2	274	c.258G>A	c.(256-258)acG>acA	p.T86T	CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000594519.1_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	86	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						AGAGTCCCAGCGTCCCTGCCA	0.488																																						ENST00000375707.1																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						c.(256-258)acG>acA		caspase recruitment domain family, member 17							120.0	104.0	110.0					11																	104971256		2202	4299	6501	SO:0001819	synonymous_variant	440068							g.chr11:104971256C>T		CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"""Inhibitory CARD"""	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.258G>A	11.37:g.104971256C>T						CASP1_ENST00000598974.1_Intron|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron	p.T86T	NM_001007232.1	NP_001007233.1					2	274	-									Silent	SNP	ENST00000375707.1	37	c.258G>A	CCDS31662.1																																																																																				0.488	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1	NM_001007232		14	59	0	0	0	1	0	14	59				
F3	2152	broad.mit.edu	37	1	95005817	95005817	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:95005817T>C	ENST00000334047.7	-	2	371	c.208A>G	c.(208-210)Ata>Gta	p.I70V	F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Missense_Mutation_p.I70V	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	70					activation of blood coagulation via clotting cascade (GO:0002543)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of plasma proteins involved in acute inflammatory response (GO:0002541)|blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|protease binding (GO:0002020)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	GCTTACCTTATTTGAACAGTG	0.348																																					Melanoma(40;358 1339 15970 39161)	ENST00000334047.7																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14						c.(208-210)Ata>Gta		coagulation factor III (thromboplastin, tissue factor)	Coagulation factor VIIa(DB00036)						127.0	125.0	126.0					1																	95005817		2203	4300	6503	SO:0001583	missense	2152				activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding	g.chr1:95005817T>C	BC011029	CCDS750.1, CCDS53345.1	1p22-p21	2012-10-02			ENSG00000117525	ENSG00000117525		"""CD molecules"""	3541	protein-coding gene	gene with protein product		134390					Standard	NM_001993		Approved	CD142	uc001dqr.3	P13726	OTTHUMG00000010716	ENST00000334047.7:c.208A>G	1.37:g.95005817T>C	ENSP00000334145:p.Ile70Val					F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Missense_Mutation_p.I70V	p.I70V	NM_001993.4	NP_001984.1	P13726	TF_HUMAN		all cancers(265;0.0232)|Epithelial(280;0.121)	2	371	-		all_lung(203;0.00106)|Lung NSC(277;0.00475)	70					D3DT47|Q6FHG2|Q86WH4	Missense_Mutation	SNP	ENST00000334047.7	37	c.208A>G	CCDS750.1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.388801	0.61956	.	.	ENSG00000117525	ENST00000334047;ENST00000370207	T;T	0.72942	-0.7;-0.7	4.9	4.9	0.64082	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.054442	0.85682	D	0.000000	T	0.57770	0.2076	L	0.61387	1.9	0.34234	D	0.676808	P;P	0.44478	0.803;0.836	P;P	0.48030	0.564;0.548	T	0.58752	-0.7581	10	0.14252	T	0.57	.	10.9095	0.47099	0.0:0.0:0.0:1.0	.	70;70	P13726-2;P13726	.;TF_HUMAN	V	70	ENSP00000334145:I70V;ENSP00000359226:I70V	ENSP00000334145:I70V	I	-	1	0	F3	94778405	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.161000	0.58170	1.844000	0.53588	0.460000	0.39030	ATA		0.348	F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029593.1	NM_001993		30	10	0	0	0	1	0	30	10				
USP13	8975	broad.mit.edu	37	3	179439330	179439330	+	Silent	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:179439330C>T	ENST00000263966.3	+	8	1512	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Silent_p.L282L	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	347	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GCTGCTATCTCAGCTCTGTCA	0.567																																						ENST00000263966.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46						c.(1039-1041)ctC>ctT		ubiquitin specific peptidase 13 (isopeptidase T-3)							111.0	96.0	101.0					3																	179439330		2203	4300	6503	SO:0001819	synonymous_variant	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179439330C>T	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1041C>T	3.37:g.179439330C>T						USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Silent_p.L282L	p.L347L	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		8	1512	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		347					A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	ENST00000263966.3	37	c.1041C>T	CCDS3235.1																																																																																				0.567	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			12	98	0	0	0	1	0	12	98				
RALGAPA1	253959	broad.mit.edu	37	14	36192397	36192397	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:36192397G>A	ENST00000389698.3	-	15	2330	c.1940C>T	c.(1939-1941)tCa>tTa	p.S647L	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.S647L|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S647L|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S647L	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	647					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGACAATACTGACAGTAAGTC	0.383																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1939-1941)tCa>tTa		Ral GTPase activating protein, alpha subunit 1 (catalytic)							68.0	62.0	64.0					14																	36192397		2203	4300	6503	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36192397G>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.1940C>T	14.37:g.36192397G>A	ENSP00000374348:p.Ser647Leu					RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S647L|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S647L|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S647L|RALGAPA1_ENST00000554704.1_5'UTR	p.S647L			Q6GYQ0	RGPA1_HUMAN			15	2330	-			647					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.1940C>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822722	0.71028	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	D;D;D;D;D	0.94417	-3.42;-3.42;-3.41;-3.42;-3.41	5.45	5.45	0.79879	.	0.065500	0.64402	D	0.000006	D	0.93022	0.7779	L	0.40543	1.245	0.58432	D	0.999998	P;P;B;P;P	0.52061	0.95;0.917;0.012;0.734;0.835	P;B;B;B;B	0.45610	0.487;0.293;0.037;0.373;0.269	D	0.93048	0.6463	10	0.48119	T	0.1	-9.3009	19.2699	0.94004	0.0:0.0:1.0:0.0	.	647;647;647;647;647	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	L	647	ENSP00000374348:S647L;ENSP00000302647:S647L;ENSP00000258840:S647L;ENSP00000371803:S647L;ENSP00000451877:S647L	ENSP00000258840:S647L	S	-	2	0	RALGAPA1	35262148	1.000000	0.71417	0.708000	0.30435	0.990000	0.78478	6.694000	0.74587	2.570000	0.86706	0.591000	0.81541	TCA		0.383	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		7	42	0	0	0	1	0	7	42				
DNAH11	8701	broad.mit.edu	37	7	21744171	21744171	+	Silent	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:21744171G>A	ENST00000409508.3	+	38	6424	c.6393G>A	c.(6391-6393)aaG>aaA	p.K2131K	DNAH11_ENST00000328843.6_Silent_p.K2138K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2138					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGAGGAGGAAGCTGCACTTTG	0.527									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(6412-6414)aaG>aaA		dynein, axonemal, heavy chain 11							75.0	76.0	76.0					7																	21744171		1996	4181	6177	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21744171G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6393G>A	7.37:g.21744171G>A						DNAH11_ENST00000409508.3_Silent_p.K2131K	p.K2138K			Q96DT5	DYH11_HUMAN			39	6445	+			2138					Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.6414G>A																																																																																					0.527	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		14	25	0	0	0	1	0	14	25				
TP53	7157	broad.mit.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7578176C>A	ENST00000269305.4	-	6	862		c.e6+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	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						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.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)	GCAAACCAGACCTCAGGCGGC	0.527		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"""		66	Unknown(56)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)	ovary(12)|upper_aerodigestive_tract(10)|lung(8)|biliary_tract(5)|endometrium(5)|large_intestine(4)|oesophagus(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|cervix(1)|soft_tissue(1)|skin(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CS071266	TP53	S		c.e6+1	Other conserved DNA damage response genes	tumor protein p53							80.0	75.0	77.0					17																	7578176		2203	4300	6503	SO:0001630	splice_region_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.chr17:7578176C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.672+1G>T	17.37:g.7578176C>A		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_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site		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)	6	805	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964220	0.74131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.205	0.59790	0.1605:0.8394:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518901	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.775000	0.85489	1.321000	0.45227	0.563000	0.77884	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	14	15	1	0	0.0167234	1	0.0168496	14	15				
KRTAP4-1	85285	broad.mit.edu	37	17	39340905	39340905	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:39340905C>G	ENST00000398472.1	-	1	689	c.202G>C	c.(202-204)Gtc>Ctc	p.V68L				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	68	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TGACAACAGACTGGGTGGCAG	0.637																																						ENST00000398472.1																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(202-204)Gtc>Ctc		keratin associated protein 4-1							29.0	34.0	32.0					17																	39340905		2137	4263	6400	SO:0001583	missense	85285					keratin filament		g.chr17:39340905C>G	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.202G>C	17.37:g.39340905C>G	ENSP00000381489:p.Val68Leu						p.V68L			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	689	-		Breast(137;0.000496)	68			18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		A8MWS7|Q3SYF2	Missense_Mutation	SNP	ENST00000398472.1	37	c.202G>C		.	.	.	.	.	.	.	.	.	.	C	4.431	0.079656	0.08533	.	.	ENSG00000244537;ENSG00000198443;ENSG00000198443	ENST00000458321;ENST00000398472;ENST00000334190	T	0.00635	6.06	4.44	-0.54	0.11861	.	.	.	.	.	T	0.00440	0.0014	.	.	.	0.09310	N	1	B	0.22800	0.075	B	0.14578	0.011	T	0.40590	-0.9555	8	0.16896	T	0.51	.	6.0825	0.19948	0.0:0.5593:0.1453:0.2953	.	68	Q9BYQ7	KRA41_HUMAN	L	64;68;68	ENSP00000381489:V68L	ENSP00000335483:V68L	V	-	1	0	KRTAP4-2;KRTAP4-1	36594431	0.000000	0.05858	0.015000	0.15790	0.361000	0.29550	-2.764000	0.00784	0.017000	0.15025	-0.354000	0.07668	GTC		0.637	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		48	27	0	0	0	1	0	48	27				
PSD4	23550	broad.mit.edu	37	2	113940316	113940316	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:113940316G>A	ENST00000245796.6	+	2	478	c.283G>A	c.(283-285)Gac>Aac	p.D95N	PSD4_ENST00000441564.3_Missense_Mutation_p.D95N|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	95					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCGGGCCACTGACCCTCCTGA	0.642																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(283-285)Gac>Aac		pleckstrin and Sec7 domain containing 4							49.0	52.0	51.0					2																	113940316		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940316G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.283G>A	2.37:g.113940316G>A	ENSP00000245796:p.Asp95Asn					PSD4_ENST00000441564.2_Missense_Mutation_p.D95N|PSD4_ENST00000465917.1_3'UTR	p.D95N	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			2	478	+			95					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.283G>A	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955055	0.53293	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.16743	2.48;2.32	4.06	3.18	0.36537	.	2.655290	0.01321	N	0.010934	T	0.12008	0.0292	N	0.14661	0.345	0.18873	N	0.999987	B;B	0.34290	0.447;0.319	B;B	0.29440	0.102;0.047	T	0.22941	-1.0202	10	0.52906	T	0.07	.	7.8637	0.29524	0.1161:0.0:0.8839:0.0	.	95;95	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	N	95	ENSP00000245796:D95N;ENSP00000413997:D95N	ENSP00000245796:D95N	D	+	1	0	PSD4	113656787	0.057000	0.20700	0.003000	0.11579	0.328000	0.28507	2.481000	0.45215	1.043000	0.40175	0.313000	0.20887	GAC		0.642	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		8	36	0	0	0	1	0	8	36				
GALNT13	114805	broad.mit.edu	37	2	155099238	155099238	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:155099238A>G	ENST00000392825.3	+	6	1073	c.506A>G	c.(505-507)tAc>tGc	p.Y169C	GALNT13_ENST00000409237.1_Missense_Mutation_p.Y169C	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	169	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TTAGAGAATTACGTGAAAAAT	0.348																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(505-507)tAc>tGc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							32.0	35.0	34.0					2																	155099238		2203	4299	6502	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155099238A>G	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.506A>G	2.37:g.155099238A>G	ENSP00000376570:p.Tyr169Cys					GALNT13_ENST00000409237.1_Missense_Mutation_p.Y169C	p.Y169C	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN			6	1073	+			169			Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.506A>G	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.313724	0.81358	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.65549	-0.16;-0.16	5.98	5.98	0.97165	Glycosyl transferase, family 2 (1);	0.058018	0.64402	D	0.000001	D	0.85961	0.5819	H	0.96833	3.89	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.73380	0.98;0.905	D	0.90568	0.4520	10	0.87932	D	0	.	15.6377	0.76966	1.0:0.0:0.0:0.0	.	169;169	Q08ER7;Q8IUC8	.;GLT13_HUMAN	C	169	ENSP00000376570:Y169C;ENSP00000387239:Y169C	ENSP00000376570:Y169C	Y	+	2	0	GALNT13	154807484	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.339000	0.96797	2.293000	0.77203	0.477000	0.44152	TAC		0.348	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		9	31	0	0	0	1	0	9	31				
TOPORS	10210	broad.mit.edu	37	9	32542340	32542340	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:32542340G>C	ENST00000360538.2	-	3	2299	c.2183C>G	c.(2182-2184)gCt>gGt	p.A728G	TOPORS_ENST00000379858.1_Missense_Mutation_p.A663G	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	728	Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AGAATAATGAGCTCTGGACAG	0.378																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2182-2184)gCt>gGt		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							170.0	179.0	176.0					9																	32542340		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32542340G>C	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2183C>G	9.37:g.32542340G>C	ENSP00000353735:p.Ala728Gly					TOPORS_ENST00000379858.1_Missense_Mutation_p.A663G	p.A728G	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2299	-			728			Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.2183C>G	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.045032	0.36085	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.15952	2.38;2.39	6.16	5.26	0.73747	.	0.000000	0.50627	D	0.000118	T	0.09730	0.0239	N	0.14661	0.345	0.29837	N	0.82953	B	0.24920	0.114	B	0.21360	0.034	T	0.06752	-1.0809	10	0.34782	T	0.22	-10.7698	9.3759	0.38283	0.0771:0.1436:0.7793:0.0	.	728	Q9NS56	TOPRS_HUMAN	G	728;663	ENSP00000353735:A728G;ENSP00000369187:A663G	ENSP00000353735:A728G	A	-	2	0	TOPORS	32532340	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.556000	0.45862	2.937000	0.99478	0.650000	0.86243	GCT		0.378	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		26	39	0	0	0	1	0	26	39				
LYPLAL1	127018	broad.mit.edu	37	1	219383944	219383944	+	Silent	SNP	A	A	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:219383944A>G	ENST00000366928.5	+	4	479	c.432A>G	c.(430-432)gtA>gtG	p.V144V	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Silent_p.V128V	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	144					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TGGCAGGAGTATTTGCTCTTT	0.299																																						ENST00000366928.5																			0				large_intestine(1)|lung(5)	6						c.(430-432)gtA>gtG		lysophospholipase-like 1							75.0	76.0	75.0					1																	219383944		2203	4299	6502	SO:0001819	synonymous_variant	127018					cytoplasm	lysophospholipase activity	g.chr1:219383944A>G	BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.432A>G	1.37:g.219383944A>G						LYPLAL1_ENST00000366927.3_Silent_p.V128V|LYPLAL1_ENST00000483635.1_3'UTR	p.V144V	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN		GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)	4	479	+			144					A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Silent	SNP	ENST00000366928.5	37	c.432A>G	CCDS1522.1																																																																																				0.299	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090208.1	NM_138794		18	21	0	0	0	1	0	18	21				
XDH	7498	broad.mit.edu	37	2	31589782	31589782	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:31589782C>T	ENST00000379416.3	-	21	2324	c.2276G>A	c.(2275-2277)gGg>gAg	p.G759E		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	759					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CTCCATCTCCCCTGCCTCGCC	0.552																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(2275-2277)gGg>gAg		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						165.0	141.0	149.0					2																	31589782		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31589782C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2276G>A	2.37:g.31589782C>T	ENSP00000368727:p.Gly759Glu						p.G759E	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			21	2324	-	Acute lymphoblastic leukemia(172;0.155)		759					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.2276G>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567315	0.65651	.	.	ENSG00000158125	ENST00000379416	T	0.51817	0.69	5.84	5.84	0.93424	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73607	-0.3929	10	0.44086	T	0.13	.	19.745	0.96248	0.0:1.0:0.0:0.0	.	759	P47989	XDH_HUMAN	E	759	ENSP00000368727:G759E	ENSP00000368727:G759E	G	-	2	0	XDH	31443286	1.000000	0.71417	0.991000	0.47740	0.192000	0.23643	7.762000	0.85270	2.765000	0.95021	0.655000	0.94253	GGG		0.552	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		34	127	0	0	0	1	0	34	127				
CSPG4	1464	broad.mit.edu	37	15	75980081	75980081	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:75980081C>T	ENST00000308508.5	-	3	3417	c.3325G>A	c.(3325-3327)Gac>Aac	p.D1109N		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1109	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGTTGCCCGTCGGACACCTGC	0.657																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(3325-3327)Gac>Aac		chondroitin sulfate proteoglycan 4							53.0	53.0	53.0					15																	75980081		2196	4289	6485	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75980081C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3325G>A	15.37:g.75980081C>T	ENSP00000312506:p.Asp1109Asn						p.D1109N	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	3417	-			1109			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.3325G>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	21.5	4.164979	0.78339	.	.	ENSG00000173546	ENST00000308508	T	0.52526	0.66	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000002	T	0.70395	0.3219	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74565	-0.3623	10	0.66056	D	0.02	.	17.455	0.87604	0.0:1.0:0.0:0.0	.	1109	Q6UVK1	CSPG4_HUMAN	N	1109	ENSP00000312506:D1109N	ENSP00000312506:D1109N	D	-	1	0	CSPG4	73767136	1.000000	0.71417	0.303000	0.25071	0.521000	0.34408	7.813000	0.86123	2.356000	0.79943	0.555000	0.69702	GAC		0.657	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		22	37	0	0	0	1	0	22	37				
KCNJ1	3758	broad.mit.edu	37	11	128712308	128712308	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:128712308T>C	ENST00000392664.2	-	1	121	c.5A>G	c.(4-6)aAt>aGt	p.N2S	KCNJ1_ENST00000440599.2_Intron|KCNJ1_ENST00000324036.3_Intron|KCNJ1_ENST00000392665.2_Intron|KCNJ1_ENST00000392666.1_Intron	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	2					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	ACTGGAAGCATTCATGGCTGG	0.448																																						ENST00000392664.2																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23						c.(4-6)aAt>aGt		potassium inwardly-rectifying channel, subfamily J, member 1	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						126.0	114.0	118.0					11																	128712308		2201	4297	6498	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128712308T>C	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.5A>G	11.37:g.128712308T>C	ENSP00000376432:p.Asn2Ser					KCNJ1_ENST00000440599.2_Intron|KCNJ1_ENST00000392666.1_Intron|KCNJ1_ENST00000324036.3_Intron|KCNJ1_ENST00000392665.2_Intron	p.N2S	NM_000220.4	NP_000211.1	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	1	121	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	2					B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.5A>G	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	T	8.282	0.815812	0.16607	.	.	ENSG00000151704	ENST00000392664	D	0.88586	-2.4	4.34	-0.938	0.10412	.	6.147490	0.00166	N	0.000001	T	0.76285	0.3966	N	0.08118	0	0.30734	N	0.746871	B	0.06786	0.001	B	0.04013	0.001	T	0.65809	-0.6078	10	0.27082	T	0.32	.	4.218	0.10544	0.0:0.287:0.1716:0.5414	.	2	P48048	IRK1_HUMAN	S	2	ENSP00000376432:N2S	ENSP00000376432:N2S	N	-	2	0	KCNJ1	128217518	0.059000	0.20769	0.076000	0.20297	0.014000	0.08584	0.258000	0.18387	-0.164000	0.10927	-0.290000	0.09829	AAT		0.448	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		14	41	0	0	0	1	0	14	41				
SRM	6723	broad.mit.edu	37	1	11119344	11119344	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:11119344C>T	ENST00000376957.2	-	2	306	c.226G>A	c.(226-228)Gag>Aag	p.E76K		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	76	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	TAGGAGAACTCGTCTCTCTCC	0.622																																						ENST00000376957.2																			0				large_intestine(1)|lung(1)|urinary_tract(1)	3						c.(226-228)Gag>Aag		spermidine synthase	S-Adenosylmethionine(DB00118)|Spermine(DB00127)						126.0	110.0	115.0					1																	11119344		2203	4300	6503	SO:0001583	missense	6723				spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity	g.chr1:11119344C>T	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.226G>A	1.37:g.11119344C>T	ENSP00000366156:p.Glu76Lys						p.E76K	NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	2	306	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	76					B1AKP9|Q15511	Missense_Mutation	SNP	ENST00000376957.2	37	c.226G>A	CCDS125.1	.	.	.	.	.	.	.	.	.	.	C	34	5.347605	0.95807	.	.	ENSG00000116649	ENST00000376957	T	0.80738	-1.41	4.3	3.39	0.38822	.	0.000000	0.85682	D	0.000000	D	0.93197	0.7833	H	0.99261	4.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93211	0.6600	10	0.87932	D	0	.	9.5752	0.39454	0.0:0.8959:0.0:0.1041	.	76	P19623	SPEE_HUMAN	K	76	ENSP00000366156:E76K	ENSP00000366156:E76K	E	-	1	0	SRM	11041931	1.000000	0.71417	0.992000	0.48379	0.957000	0.61999	7.041000	0.76558	0.996000	0.38943	0.448000	0.29417	GAG		0.622	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132		16	72	0	0	0	1	0	16	72				
STRAP	11171	broad.mit.edu	37	12	16048404	16048404	+	Silent	SNP	A	A	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:16048404A>G	ENST00000419869.2	+	6	925	c.612A>G	c.(610-612)cgA>cgG	p.R204R	STRAP_ENST00000538352.1_Silent_p.R110R|STRAP_ENST00000025399.6_Silent_p.R217R	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	204					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				CTTATGGACGATCTATTGCTT	0.313																																						ENST00000419869.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15						c.(610-612)cgA>cgG		serine/threonine kinase receptor associated protein							74.0	76.0	75.0					12																	16048404		2202	4297	6499	SO:0001819	synonymous_variant	11171				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding	g.chr12:16048404A>G	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.612A>G	12.37:g.16048404A>G						STRAP_ENST00000025399.6_Silent_p.R217R|STRAP_ENST00000538352.1_Silent_p.R110R	p.R204R	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN			6	925	+		Hepatocellular(102;0.121)	204					B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Silent	SNP	ENST00000419869.2	37	c.612A>G	CCDS8676.1																																																																																				0.313	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178		37	68	0	0	0	1	0	37	68				
SEMA4D	10507	broad.mit.edu	37	9	92008515	92008515	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:92008515G>A	ENST00000450295.1	-	7	1246	c.470C>T	c.(469-471)cCc>cTc	p.P157L	SEMA4D_ENST00000343780.4_Missense_Mutation_p.P157L|SEMA4D_ENST00000422704.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000356444.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000438547.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000339861.4_Missense_Mutation_p.P157L|SEMA4D_ENST00000455551.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000420987.1_Missense_Mutation_p.P157L			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	157	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGGGTCAAAGGGACATCTTCC	0.428																																						ENST00000450295.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(469-471)cCc>cTc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D							269.0	206.0	228.0					9																	92008515		2203	4300	6503	SO:0001583	missense	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:92008515G>A	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.470C>T	9.37:g.92008515G>A	ENSP00000416523:p.Pro157Leu					SEMA4D_ENST00000356444.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000343780.4_Missense_Mutation_p.P157L|SEMA4D_ENST00000438547.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000455551.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000420987.1_Missense_Mutation_p.P157L|SEMA4D_ENST00000339861.4_Missense_Mutation_p.P157L|SEMA4D_ENST00000422704.2_Missense_Mutation_p.P157L	p.P157L			Q92854	SEM4D_HUMAN			7	1246	-			157			Sema.		B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	37	c.470C>T	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087642	0.94100	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	4.52	4.52	0.55395	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.051665	0.85682	D	0.000000	D	0.84257	0.5432	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	0.90052	0.4150	10	0.87932	D	0	.	17.8007	0.88586	0.0:0.0:1.0:0.0	.	157;157	Q92854-2;Q92854	.;SEM4D_HUMAN	L	157	ENSP00000344923:P157L;ENSP00000391733:P157L;ENSP00000411981:P157L;ENSP00000343418:P157L;ENSP00000416523:P157L;ENSP00000405102:P157L;ENSP00000348822:P157L;ENSP00000388768:P157L	ENSP00000344923:P157L	P	-	2	0	SEMA4D	91198335	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.086000	0.94088	2.503000	0.84419	0.655000	0.94253	CCC		0.428	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		15	40	0	0	0	1	0	15	40				
RASL11A	387496	broad.mit.edu	37	13	27847315	27847315	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:27847315C>G	ENST00000241463.4	+	4	1031	c.413C>G	c.(412-414)tCt>tGt	p.S138C	RASL11A_ENST00000480803.1_3'UTR	NM_206827.1	NP_996563.1			RAS-like, family 11, member A											breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		CACCCTGACTCTAAAGCCCCT	0.557																																						ENST00000241463.4																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10						c.(412-414)tCt>tGt		RAS-like, family 11, member A							103.0	82.0	89.0					13																	27847315		2203	4300	6503	SO:0001583	missense	387496				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity	g.chr13:27847315C>G	AY439004	CCDS9321.1	13q12.2	2014-05-09			ENSG00000122035	ENSG00000122035			23802	protein-coding gene	gene with protein product		612403				15033445	Standard	NM_206827		Approved		uc001urd.1	Q6T310	OTTHUMG00000016627	ENST00000241463.4:c.413C>G	13.37:g.27847315C>G	ENSP00000241463:p.Ser138Cys					RASL11A_ENST00000480803.1_3'UTR	p.S138C	NM_206827.1	NP_996563.1	Q6T310	RSLBA_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)	4	1031	+		Lung SC(185;0.0161)	138			Small GTPase-like.			Missense_Mutation	SNP	ENST00000241463.4	37	c.413C>G	CCDS9321.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601866	0.66445	.	.	ENSG00000122035	ENST00000241463	T	0.77877	-1.13	5.67	4.81	0.61882	Small GTP-binding protein domain (1);	0.438255	0.25657	N	0.029168	T	0.81527	0.4841	L	0.45581	1.43	0.21416	N	0.999697	P	0.50617	0.937	P	0.54544	0.755	T	0.75923	-0.3146	10	0.72032	D	0.01	.	16.2811	0.82687	0.0:0.8629:0.1371:0.0	.	138	Q6T310	RSLBA_HUMAN	C	138	ENSP00000241463:S138C	ENSP00000241463:S138C	S	+	2	0	RASL11A	26745315	0.108000	0.22018	0.207000	0.23584	0.851000	0.48451	2.368000	0.44222	1.362000	0.46000	0.655000	0.94253	TCT		0.557	RASL11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044265.2	NM_206827		19	30	0	0	0	1	0	19	30				
ICA1L	130026	broad.mit.edu	37	2	203693718	203693718	+	Silent	SNP	C	C	T	rs552339558		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:203693718C>T	ENST00000392237.2	-	3	172	c.15G>A	c.(13-15)ggG>ggA	p.G5G	ICA1L_ENST00000418208.1_Silent_p.G5G|ICA1L_ENST00000425178.1_Silent_p.G5G|ICA1L_ENST00000358299.2_Silent_p.G5G	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	5										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTCTGGGTTGCCCAAAGGAAT	0.383													c|||	1	0.000199681	0.0	0.0	5008	,	,		19230	0.0		0.0	False		,,,				2504	0.001					ENST00000392237.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(13-15)ggG>ggA		islet cell autoantigen 1,69kDa-like							133.0	118.0	123.0					2																	203693718		2203	4300	6503	SO:0001819	synonymous_variant	130026							g.chr2:203693718C>T	AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"""	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.15G>A	2.37:g.203693718C>T						ICA1L_ENST00000418208.1_Silent_p.G5G|ICA1L_ENST00000425178.1_Silent_p.G5G|ICA1L_ENST00000358299.2_Silent_p.G5G	p.G5G	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN			3	172	-			5					B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Silent	SNP	ENST00000392237.2	37	c.15G>A	CCDS2354.1																																																																																				0.383	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1	NM_138468		19	57	0	0	0	1	0	19	57				
GPR98	84059	broad.mit.edu	37	5	90021381	90021381	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:90021381A>G	ENST00000405460.2	+	48	10165	c.10069A>G	c.(10069-10071)Att>Gtt	p.I3357V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3357					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AACAATCATTATTCTGGAAAG	0.343																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(10069-10071)Att>Gtt		G protein-coupled receptor 98							93.0	91.0	91.0					5																	90021381		1815	4085	5900	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90021381A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10069A>G	5.37:g.90021381A>G	ENSP00000384582:p.Ile3357Val						p.I3357V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	48	10165	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3357					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.10069A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.787775	0.00628	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.25579	1.79	5.0	-0.268	0.12934	.	0.389892	0.28052	N	0.016790	T	0.14098	0.0341	L	0.32530	0.975	0.19300	N	0.99998	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.20140	-1.0284	10	0.22706	T	0.39	.	5.4077	0.16330	0.4954:0.0:0.3716:0.133	.	3357;3357	E7ETI5;Q8WXG9	.;GPR98_HUMAN	V	3357	ENSP00000384582:I3357V	ENSP00000296619:I3357V	I	+	1	0	GPR98	90057137	0.005000	0.15991	0.370000	0.25965	0.222000	0.24845	0.062000	0.14389	0.025000	0.15241	0.416000	0.27883	ATT		0.343	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		11	25	0	0	0	1	0	11	25				
RIOK3	8780	broad.mit.edu	37	18	21053550	21053550	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr18:21053550A>G	ENST00000339486.3	+	8	1590	c.973A>G	c.(973-975)Atc>Gtc	p.I325V	RIOK3_ENST00000577501.1_Missense_Mutation_p.I325V|RIOK3_ENST00000581585.1_Missense_Mutation_p.I309V	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	325	Protein kinase.			I -> H (in Ref. 1; AAC26080). {ECO:0000305}.	chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACGTAAGATCATCCGCATGTG	0.323																																						ENST00000339486.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10						c.(973-975)Atc>Gtc		RIO kinase 3							64.0	59.0	61.0					18																	21053550		2203	4300	6503	SO:0001583	missense	8780				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr18:21053550A>G	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.973A>G	18.37:g.21053550A>G	ENSP00000341874:p.Ile325Val					RIOK3_ENST00000581585.1_Missense_Mutation_p.I309V|RIOK3_ENST00000577501.1_Missense_Mutation_p.I325V	p.I325V	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN			8	1590	+	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)		325	I -> H (in Ref. 1; AAC26080).		Protein kinase.		Q8IXN9	Missense_Mutation	SNP	ENST00000339486.3	37	c.973A>G	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.549995	0.45383	.	.	ENSG00000101782	ENST00000339486	T	0.05925	3.37	5.05	5.05	0.67936	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.06962	0.0177	N	0.16233	0.39	0.58432	D	0.999999	P;P;D	0.54047	0.863;0.955;0.964	P;P;P	0.49276	0.605;0.47;0.605	T	0.53165	-0.8477	10	0.17832	T	0.49	2.1405	14.8437	0.70243	1.0:0.0:0.0:0.0	.	309;325;325	B4E1Q4;O14730-2;O14730	.;.;RIOK3_HUMAN	V	325	ENSP00000341874:I325V	ENSP00000341874:I325V	I	+	1	0	RIOK3	19307548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.253000	0.95501	1.904000	0.55121	0.472000	0.43445	ATC		0.323	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831		21	14	0	0	0	1	0	21	14				
HOXD3	3232	broad.mit.edu	37	2	177036314	177036314	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:177036314C>T	ENST00000468418.3	+	4	2701	c.611C>T	c.(610-612)gCg>gTg	p.A204V	HOXD3_ENST00000410016.1_Missense_Mutation_p.A204V|HOXD3_ENST00000249440.3_Missense_Mutation_p.A204V|HOXD-AS1_ENST00000416928.2_RNA			P31249	HXD3_HUMAN	homeobox D3	204					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		TACACGAGCGCGCAGCTGGTG	0.642																																						ENST00000468418.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(610-612)gCg>gTg		homeobox D3							54.0	53.0	53.0					2																	177036314		2203	4300	6503	SO:0001583	missense	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036314C>T		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.611C>T	2.37:g.177036314C>T	ENSP00000424734:p.Ala204Val					HOXD3_ENST00000249440.3_Missense_Mutation_p.A204V|HOXD3_ENST00000410016.1_Missense_Mutation_p.A204V	p.A204V			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	4	2701	+			204					Q99955|Q9BSC5	Missense_Mutation	SNP	ENST00000468418.3	37	c.611C>T	CCDS2270.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397569	0.83120	.	.	ENSG00000128652	ENST00000468418;ENST00000410016;ENST00000249440	D;D;D	0.96265	-3.96;-3.96;-3.96	5.36	5.36	0.76844	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96648	0.8906	N	0.25789	0.76	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97551	1.0092	10	0.59425	D	0.04	.	19.0654	0.93108	0.0:1.0:0.0:0.0	.	204	P31249	HXD3_HUMAN	V	204	ENSP00000424734:A204V;ENSP00000386498:A204V;ENSP00000249440:A204V	ENSP00000249440:A204V	A	+	2	0	HOXD3	176744560	1.000000	0.71417	0.795000	0.32087	0.324000	0.28378	5.887000	0.69751	2.504000	0.84457	0.561000	0.74099	GCG		0.642	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			25	71	0	0	0	1	0	25	71				
MYO6	4646	broad.mit.edu	37	6	76558166	76558166	+	Silent	SNP	A	A	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:76558166A>G	ENST00000369977.3	+	11	1135	c.996A>G	c.(994-996)gaA>gaG	p.E332E	MYO6_ENST00000369981.3_Silent_p.E332E|MYO6_ENST00000369985.4_Silent_p.E332E|MYO6_ENST00000369975.1_Silent_p.E332E	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	332	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TGGATGATGAAGAAAAGCTTG	0.403																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(994-996)gaA>gaG		myosin VI							137.0	136.0	136.0					6																	76558166		2203	4300	6503	SO:0001819	synonymous_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76558166A>G	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.996A>G	6.37:g.76558166A>G						MYO6_ENST00000369985.4_Silent_p.E332E|MYO6_ENST00000369975.1_Silent_p.E332E|MYO6_ENST00000369977.3_Silent_p.E332E	p.E332E			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	11	1275	+		all_hematologic(105;0.189)	332			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Silent	SNP	ENST00000369977.3	37	c.996A>G	CCDS34487.1																																																																																				0.403	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		22	50	0	0	0	1	0	22	50				
OR8D1	283159	broad.mit.edu	37	11	124180230	124180230	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:124180230C>G	ENST00000357821.2	-	1	503	c.433G>C	c.(433-435)Gtg>Ctg	p.V145L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCAGCCAGCACTAGCAGTGAG	0.473																																						ENST00000357821.2																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(433-435)Gtg>Ctg		olfactory receptor, family 8, subfamily D, member 1							75.0	66.0	69.0					11																	124180230		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124180230C>G	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.433G>C	11.37:g.124180230C>G	ENSP00000350474:p.Val145Leu						p.V145L	NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	503	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	145					B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.433G>C	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	c	9.456	1.091883	0.20471	.	.	ENSG00000196341	ENST00000357821	T	0.36878	1.23	4.29	-1.64	0.08318	GPCR, rhodopsin-like superfamily (1);	0.263088	0.19534	U	0.111971	T	0.26304	0.0642	L	0.39397	1.21	0.09310	N	1	B	0.15141	0.012	B	0.22880	0.042	T	0.18681	-1.0329	10	0.37606	T	0.19	.	10.1744	0.42931	0.0:0.6537:0.0:0.3463	.	145	Q8WZ84	OR8D1_HUMAN	L	145	ENSP00000350474:V145L	ENSP00000350474:V145L	V	-	1	0	OR8D1	123685440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.243000	0.08915	-0.580000	0.05944	-0.506000	0.04501	GTG		0.473	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		16	7	0	0	0	1	0	16	7				
DTWD2	285605	broad.mit.edu	37	5	118176728	118176728	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:118176728G>T	ENST00000510708.1	-	6	814	c.781C>A	c.(781-783)Caa>Aaa	p.Q261K	DTWD2_ENST00000515439.3_Missense_Mutation_p.Q165K|DTWD2_ENST00000304058.4_Missense_Mutation_p.Q195K	NM_173666.2	NP_775937.1	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	261										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		AGGCGAATTTGGGCACCATGC	0.383																																						ENST00000304058.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13						c.(583-585)Caa>Aaa		DTW domain containing 2							94.0	83.0	87.0					5																	118176728		2202	4300	6502	SO:0001583	missense	285605							g.chr5:118176728G>T		CCDS34216.1	5q23.1	2008-02-05			ENSG00000169570	ENSG00000169570			19334	protein-coding gene	gene with protein product							Standard	NM_173666		Approved	FLJ33977	uc003ksa.3	Q8NBA8	OTTHUMG00000162956	ENST00000510708.1:c.781C>A	5.37:g.118176728G>T	ENSP00000425048:p.Gln261Lys					DTWD2_ENST00000515439.3_Missense_Mutation_p.Q165K|DTWD2_ENST00000510708.1_Missense_Mutation_p.Q261K	p.Q195K			Q8NBA8	DTWD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)	6	653	-		all_epithelial(76;0.0982)|Prostate(80;0.121)	261						Missense_Mutation	SNP	ENST00000510708.1	37	c.583C>A	CCDS34216.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415409	0.83449	.	.	ENSG00000169570	ENST00000304058;ENST00000510708;ENST00000515439	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.54663	0.1872	L	0.47716	1.5	0.58432	D	0.999999	D	0.59357	0.985	P	0.47206	0.541	T	0.53012	-0.8498	9	0.06099	T	0.92	-20.5272	18.8194	0.92090	0.0:0.0:1.0:0.0	.	261	Q8NBA8	DTWD2_HUMAN	K	195;261;165	.	ENSP00000302892:Q195K	Q	-	1	0	DTWD2	118204627	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.330000	0.79181	2.539000	0.85634	0.650000	0.86243	CAA		0.383	DTWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371167.2	NM_173666		13	14	1	0	1.61879e-10	1	1.80091e-10	13	14				
ZNF836	162962	broad.mit.edu	37	19	52658145	52658145	+	Silent	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:52658145G>A	ENST00000322146.8	-	5	3312	c.2791C>T	c.(2791-2793)Cta>Tta	p.L931L	ZNF836_ENST00000597252.1_Silent_p.L931L|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	931					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCAGAAGTTAGGAGAACATCT	0.348																																						ENST00000322146.8																			0				endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2791-2793)Cta>Tta		zinc finger protein 836							40.0	39.0	39.0					19																	52658145		1984	4179	6163	SO:0001819	synonymous_variant	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52658145G>A	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.2791C>T	19.37:g.52658145G>A						CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.L931L	p.L931L	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN			5	3312	-			931						Silent	SNP	ENST00000322146.8	37	c.2791C>T	CCDS46162.1																																																																																				0.348	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		4	14	0	0	0	1	0	4	14				
FAM46D	169966	broad.mit.edu	37	X	79698545	79698545	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:79698545T>A	ENST00000308293.5	+	3	746	c.507T>A	c.(505-507)ttT>ttA	p.F169L	FAM46D_ENST00000538312.1_Missense_Mutation_p.F169L	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	169										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						GACGGCAGTTTGAATTTAGTG	0.378																																						ENST00000538312.1																			0				kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(505-507)ttT>ttA		family with sequence similarity 46, member D							76.0	74.0	75.0					X																	79698545		2203	4299	6502	SO:0001583	missense	169966							g.chrX:79698545T>A	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.507T>A	X.37:g.79698545T>A	ENSP00000308575:p.Phe169Leu					FAM46D_ENST00000308293.5_Missense_Mutation_p.F169L	p.F169L	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN			5	841	+			169					B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	37	c.507T>A	CCDS14446.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.924020	0.73213	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.27104	1.69;1.69	4.8	3.64	0.41730	Domain of unknown function DUF1693 (1);	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	M	0.88310	2.945	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.55554	-0.8123	10	0.87932	D	0	-14.881	8.5092	0.33206	0.0:0.0938:0.0:0.9062	.	169	Q8NEK8	FA46D_HUMAN	L	169	ENSP00000443410:F169L;ENSP00000308575:F169L	ENSP00000308575:F169L	F	+	3	2	FAM46D	79585201	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.720000	0.38022	0.682000	0.31407	0.481000	0.45027	TTT		0.378	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630		27	6	0	0	0	1	0	27	6				
MKRN2	23609	broad.mit.edu	37	3	12616300	12616300	+	Silent	SNP	T	T	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:12616300T>C	ENST00000170447.7	+	5	789	c.652T>C	c.(652-654)Ttg>Ctg	p.L218L	MKRN2_ENST00000411987.1_Silent_p.L175L|MKRN2_ENST00000448482.1_Silent_p.L216L	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	218	Makorin-type Cys-His.				protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						GATCTGCATGTTGACGTTCGA	0.552																																						ENST00000170447.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						c.(652-654)Ttg>Ctg		makorin ring finger protein 2							136.0	116.0	123.0					3																	12616300		2203	4300	6503	SO:0001819	synonymous_variant	23609					intracellular	ligase activity|nucleic acid binding|zinc ion binding	g.chr3:12616300T>C		CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"""RING-type (C3HC4) zinc fingers"""	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.652T>C	3.37:g.12616300T>C						MKRN2_ENST00000411987.1_Silent_p.L175L|MKRN2_ENST00000448482.1_Silent_p.L216L	p.L218L	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN			5	789	+			218			Makorin-type Cys-His.		A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Silent	SNP	ENST00000170447.7	37	c.652T>C	CCDS33702.1																																																																																				0.552	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	NM_014160		75	12	0	0	0	1	0	75	12				
POLR2A	5430	broad.mit.edu	37	17	7406588	7406588	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7406588A>G	ENST00000322644.6	+	17	3304	c.2905A>G	c.(2905-2907)Atc>Gtc	p.I969V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	969					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCTCAGGGTCATCTTCCCAAC	0.597																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(2905-2907)Atc>Gtc		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							149.0	140.0	143.0					17																	7406588		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7406588A>G			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2905A>G	17.37:g.7406588A>G	ENSP00000314949:p.Ile969Val						p.I969V	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			17	3304	+		Prostate(122;0.173)	969					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.2905A>G	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.431243	0.43122	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.67865	-0.29	5.25	5.25	0.73442	RNA polymerase Rpb1, domain 6 (1);RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	T	0.60077	0.2241	L	0.28115	0.83	0.80722	D	1	B	0.18166	0.026	B	0.33960	0.173	T	0.60662	-0.7219	10	0.66056	D	0.02	-15.4863	14.5589	0.68120	1.0:0.0:0.0:0.0	.	969	P24928	RPB1_HUMAN	V	925;969	ENSP00000314949:I969V	ENSP00000314949:I969V	I	+	1	0	SLC35G6	7347312	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.478000	0.90428	2.333000	0.79357	0.533000	0.62120	ATC		0.597	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		19	30	0	0	0	1	0	19	30				
KRT16P3	644945	broad.mit.edu	37	17	20405939	20405939	+	RNA	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:20405939G>A	ENST00000580113.1	-	0	924									keratin 16 pseudogene 3																		TCCAGGCCCTGGAACACCCTC	0.582																																						ENST00000580113.1																			0																																																			644945							g.chr17:20405939G>A	BC110641		17p11.2	2014-06-12			ENSG00000214822	ENSG00000214822			37808	pseudogene	pseudogene			"""cytokeratin, Smith Magenis syndrome chromosome region"""	KERSMCR			Standard	NR_029393		Approved	MGC102966	uc002gxb.3		OTTHUMG00000130724		17.37:g.20405939G>A														0	924	-									RNA	SNP	ENST00000580113.1	37																																																																																						0.582	KRT16P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000443764.1	NR_029393		6	19	0	0	0	1	0	6	19				
KIAA1210	57481	broad.mit.edu	37	X	118220813	118220813	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:118220813A>T	ENST00000402510.2	-	11	4379	c.4380T>A	c.(4378-4380)aaT>aaA	p.N1460K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1460										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CATGCTGGTTATTATTACCAT	0.443																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(4378-4380)aaT>aaA		KIAA1210							79.0	74.0	76.0					X																	118220813		1869	4094	5963	SO:0001583	missense	57481							g.chrX:118220813A>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4380T>A	X.37:g.118220813A>T	ENSP00000384670:p.Asn1460Lys						p.N1460K	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			11	4379	-			1460					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.4380T>A	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.26|13.26	2.184096|2.184096	0.38609|0.38609	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	T|.	0.12672|.	2.66|.	3.61|3.61	-0.728|-0.728	0.11162|0.11162	.|.	.|.	.|.	.|.	.|.	T|.	0.35856|.	0.0946|.	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	B|.	0.24823|.	0.112|.	B|.	0.23574|.	0.047|.	T|.	0.32161|.	-0.9917|.	8|.	.|.	.|.	.|.	.|.	4.3789|4.3789	0.11284|0.11284	0.4208:0.3878:0.0:0.1915|0.4208:0.3878:0.0:0.1915	.|.	1460|.	Q9ULL0|.	K1210_HUMAN|.	K|K	1460|867	ENSP00000384670:N1460K|.	.|.	N|X	-|-	3|1	2|0	RP13-347D8.6|KIAA1210	118104841|118104841	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	0.824000|0.824000	0.27379|0.27379	-0.340000|-0.340000	0.08388|0.08388	0.356000|0.356000	0.21956|0.21956	AAT|TAA		0.443	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		13	18	0	0	0	1	0	13	18				
CNTN3	5067	broad.mit.edu	37	3	74349057	74349057	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:74349057C>T	ENST00000263665.6	-	16	2155	c.2128G>A	c.(2128-2130)Gga>Aga	p.G710R		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	710	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTTCCGCCTCCTCCATTGACT	0.433																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(2128-2130)Gga>Aga		contactin 3 (plasmacytoma associated)							93.0	80.0	84.0					3																	74349057		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74349057C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2128G>A	3.37:g.74349057C>T	ENSP00000263665:p.Gly710Arg						p.G710R	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	16	2155	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	710			Fibronectin type-III 2.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.2128G>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.964913	0.92855	.	.	ENSG00000113805	ENST00000263665	T	0.55760	0.5	5.86	5.86	0.93980	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76004	0.3927	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71576	-0.4551	10	0.22109	T	0.4	.	20.1864	0.98220	0.0:1.0:0.0:0.0	.	710	Q9P232	CNTN3_HUMAN	R	710	ENSP00000263665:G710R	ENSP00000263665:G710R	G	-	1	0	CNTN3	74431747	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.175000	0.77632	2.781000	0.95711	0.650000	0.86243	GGA		0.433	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		10	33	0	0	0	1	0	10	33				
IGSF10	285313	broad.mit.edu	37	3	151166279	151166279	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:151166279C>A	ENST00000282466.3	-	4	1489	c.1490G>T	c.(1489-1491)tGc>tTc	p.C497F		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	497	Ig-like C2-type 1.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGGCCTGGGCAGTTCAGGCC	0.493																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(1489-1491)tGc>tTc		immunoglobulin superfamily, member 10							208.0	200.0	203.0					3																	151166279		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166279C>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1490G>T	3.37:g.151166279C>A	ENSP00000282466:p.Cys497Phe						p.C497F	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1489	-			497			Ig-like C2-type 1.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.1490G>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110026	0.56398	.	.	ENSG00000152580	ENST00000282466	T	0.65178	-0.14	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000097	D	0.85801	0.5781	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90368	0.4378	10	0.87932	D	0	.	18.4741	0.90785	0.0:1.0:0.0:0.0	.	497	Q6WRI0	IGS10_HUMAN	F	497	ENSP00000282466:C497F	ENSP00000282466:C497F	C	-	2	0	IGSF10	152648969	1.000000	0.71417	0.975000	0.42487	0.376000	0.30014	5.781000	0.68964	2.378000	0.81104	0.555000	0.69702	TGC		0.493	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		35	181	1	0	1.26612e-14	1	1.43852e-14	35	181				
TMEM116	89894	broad.mit.edu	37	12	112369503	112369503	+	Silent	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:112369503C>T	ENST00000550831.3	-	10	1028	c.660G>A	c.(658-660)caG>caA	p.Q220Q	TMEM116_ENST00000354825.3_Silent_p.Q220Q|TMEM116_ENST00000437003.2_Silent_p.Q220Q|TMEM116_ENST00000549537.2_Silent_p.Q126Q|TMEM116_ENST00000355445.3_Silent_p.Q277Q|TMEM116_ENST00000552374.2_Silent_p.Q312Q	NM_138341.2	NP_612350.1	Q8NCL8	TM116_HUMAN	transmembrane protein 116	220						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						AGAATCTCTTCTGTGAGCATA	0.448																																						ENST00000354825.3																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						c.(658-660)caG>caA		transmembrane protein 116							148.0	136.0	140.0					12																	112369503		2203	4300	6503	SO:0001819	synonymous_variant	89894					integral to membrane		g.chr12:112369503C>T	AK074648	CCDS9157.1, CCDS55886.1, CCDS55887.1	12q24.13	2012-03-02			ENSG00000198270	ENSG00000198270			25084	protein-coding gene	gene with protein product						12477932	Standard	NM_001193453		Approved	FLJ90167	uc001ttd.2	Q8NCL8	OTTHUMG00000169606	ENST00000550831.3:c.660G>A	12.37:g.112369503C>T						TMEM116_ENST00000355445.3_Silent_p.Q277Q|TMEM116_ENST00000552374.2_Silent_p.Q312Q|TMEM116_ENST00000549537.2_Silent_p.Q126Q|TMEM116_ENST00000437003.2_Silent_p.Q220Q|TMEM116_ENST00000550831.3_Silent_p.Q220Q	p.Q220Q			Q8NCL8	TM116_HUMAN			13	1315	-			220					G3V1W7|G5E985|Q6NSH5|Q8IZ66	Silent	SNP	ENST00000550831.3	37	c.660G>A	CCDS9157.1																																																																																				0.448	TMEM116-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405026.3	NM_138341		22	47	0	0	0	1	0	22	47				
FOXB2	442425	broad.mit.edu	37	9	79634747	79634747	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:79634747C>A	ENST00000376708.1	+	1	177	c.177C>A	c.(175-177)aaC>aaA	p.N59K		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	59					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						GCTGGCAGAACAGCCTGCGCC	0.612																																						ENST00000376708.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(175-177)aaC>aaA		forkhead box B2							78.0	70.0	73.0					9																	79634747		2203	4300	6503	SO:0001583	missense	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79634747C>A		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.177C>A	9.37:g.79634747C>A	ENSP00000365898:p.Asn59Lys						p.N59K	NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN			1	177	+			59						Missense_Mutation	SNP	ENST00000376708.1	37	c.177C>A	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.835953	0.50951	.	.	ENSG00000204612	ENST00000376708	D	0.96856	-4.15	4.3	3.37	0.38596	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98833	0.9606	H	0.98951	4.38	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98472	1.0601	10	0.87932	D	0	.	12.9417	0.58348	0.0:0.9154:0.0:0.0846	.	59	Q5VYV0	FOXB2_HUMAN	K	59	ENSP00000365898:N59K	ENSP00000365898:N59K	N	+	3	2	FOXB2	78824567	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.949000	0.40313	2.104000	0.64026	0.561000	0.74099	AAC		0.612	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		31	11	1	0	2.46105e-21	1	2.84459e-21	31	11				
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116809	121116809	+	lincRNA	SNP	T	T	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:121116809T>G	ENST00000437515.1	-	0	329					NR_104189.1																						TATCTGACCTTATTGATGTAA	0.458																																						ENST00000437515.1																			0																																																			100873165							g.chr1:121116809T>G																													1.37:g.121116809T>G														0	329	-									RNA	SNP	ENST00000437515.1	37																																																																																						0.458	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			4	20	0	0	0	1	0	4	20				
STK19	8859	broad.mit.edu	37	6	31940148	31940148	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:31940148T>A	ENST00000375333.2	+	2	343	c.290T>A	c.(289-291)cTc>cAc	p.L97H	DXO_ENST00000375356.3_5'Flank|DXO_ENST00000478221.1_5'Flank|DXO_ENST00000375349.3_5'Flank|STK19_ENST00000375331.2_Missense_Mutation_p.L97H|DXO_ENST00000337523.5_5'Flank	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	97					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						TTCTCTTCCCTCCATTCCTAC	0.572																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(289-291)cTc>cAc		serine/threonine kinase 19							99.0	95.0	97.0					6																	31940148		1511	2709	4220	SO:0001583	missense	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31940148T>A	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.290T>A	6.37:g.31940148T>A	ENSP00000364482:p.Leu97His					STK19_ENST00000375333.2_Missense_Mutation_p.L97H	p.L97H	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			2	456	+			97					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Missense_Mutation	SNP	ENST00000375333.2	37	c.290T>A	CCDS4733.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261254	0.39995	.	.	ENSG00000204344	ENST00000460018;ENST00000375331;ENST00000375333	T;T;T	0.57752	0.38;1.39;1.38	4.14	0.373	0.16178	.	.	.	.	.	T	0.29423	0.0733	N	0.19112	0.55	0.09310	N	1	D;D;D;D;D	0.65815	0.97;0.995;0.99;0.983;0.97	B;P;P;B;B	0.55824	0.339;0.785;0.634;0.431;0.339	T	0.08186	-1.0734	9	0.87932	D	0	0.0	6.129	0.20195	0.0:0.3245:0.0:0.6755	.	54;97;97;97;54	C9IZ87;B4E0M4;P49842-2;P49842;B7ZLI8	.;.;.;STK19_HUMAN;.	H	97	ENSP00000418350:L97H;ENSP00000364480:L97H;ENSP00000364482:L97H	ENSP00000364480:L97H	L	+	2	0	STK19	32048127	0.036000	0.19791	0.000000	0.03702	0.002000	0.02628	1.281000	0.33214	-0.010000	0.14271	0.533000	0.62120	CTC		0.572	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			19	33	0	0	0	1	0	19	33				
RPP30	10556	broad.mit.edu	37	10	92645569	92645569	+	Splice_Site	SNP	A	A	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr10:92645569A>G	ENST00000371703.3	+	6	614	c.343A>G	c.(343-345)Att>Gtt	p.I115V	RPP30_ENST00000413330.1_Splice_Site_p.I115V	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	115					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						TTCTTTACAGATTGCTTGCAC	0.353																																						ENST00000413330.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						c.e6-1		ribonuclease P/MRP 30kDa subunit							116.0	108.0	111.0					10																	92645569		2201	4300	6501	SO:0001630	splice_region_variant	10556				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:92645569A>G	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.343-1A>G	10.37:g.92645569A>G						RPP30_ENST00000371703.3_Splice_Site_p.I115_splice	p.I115_splice	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN			6	378	+			115					B2R799|E9PB02	Splice_Site	SNP	ENST00000371703.3	37	c.342_splice	CCDS7411.1	.	.	.	.	.	.	.	.	.	.	A	8.205	0.799019	0.16397	.	.	ENSG00000148688	ENST00000371703;ENST00000413330;ENST00000371705;ENST00000277882;ENST00000414836	T;T;T	0.41065	1.03;1.01;1.03	6.03	5.12	0.69794	Polymerase/histidinol phosphatase-like (1);	0.175549	0.50627	N	0.000117	T	0.20495	0.0493	N	0.03608	-0.345	0.32028	N	0.599913	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.001	T	0.14643	-1.0465	9	.	.	.	-17.7146	13.4646	0.61245	0.0774:0.0:0.9226:0.0	.	115;115;115	B4DJR3;P78346;E9PB02	.;RPP30_HUMAN;.	V	115;115;115;137;69	ENSP00000360768:I115V;ENSP00000389182:I115V;ENSP00000277882:I137V	.	I	+	1	0	RPP30	92635549	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	3.230000	0.51286	1.532000	0.49169	-0.242000	0.12053	ATT		0.353	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413	Missense_Mutation	8	28	0	0	0	1	0	8	28				
ZNRF3	84133	broad.mit.edu	37	22	29445592	29445592	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr22:29445592C>T	ENST00000544604.2	+	8	1598	c.1423C>T	c.(1423-1425)Cag>Tag	p.Q475*	ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.Q375*|ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.Q375*|ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.Q375*	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	475					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CTACTACTTCCAGGGCCTCAG	0.667																																						ENST00000544604.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1423-1425)Cag>Tag		zinc and ring finger 3							34.0	39.0	37.0					22																	29445592		2094	4202	6296	SO:0001587	stop_gained	84133					integral to membrane	zinc ion binding	g.chr22:29445592C>T	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1423C>T	22.37:g.29445592C>T	ENSP00000443824:p.Gln475*					ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.Q375*|ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.Q375*|ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.Q375*	p.Q475*	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			8	1598	+			475					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Nonsense_Mutation	SNP	ENST00000544604.2	37	c.1423C>T	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	37	6.620913	0.97714	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-3.8126	18.456	0.90721	0.0:1.0:0.0:0.0	.	.	.	.	X	475;375;182;375;375	.	ENSP00000328614:Q375X	Q	+	1	0	ZNRF3	27775592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.231000	0.78106	2.593000	0.87608	0.655000	0.94253	CAG		0.667	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		10	35	0	0	0	1	0	10	35				
SCAF1	58506	broad.mit.edu	37	19	50150067	50150067	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:50150067C>T	ENST00000360565.3	+	6	582	c.458C>T	c.(457-459)gCc>gTc	p.A153V		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	153					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CGTCTCAGGGCCTGGAGGACG	0.632																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(457-459)gCc>gTc		SR-related CTD-associated factor 1							31.0	23.0	25.0					19																	50150067		2203	4300	6503	SO:0001583	missense	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50150067C>T	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.458C>T	19.37:g.50150067C>T	ENSP00000353769:p.Ala153Val						p.A153V	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	6	582	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	153					Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	c.458C>T	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545558	0.45280	.	.	ENSG00000126461	ENST00000360565;ENST00000447618	T	0.36157	1.27	4.56	4.56	0.56223	.	0.000000	0.42420	D	0.000712	T	0.43366	0.1244	N	0.19112	0.55	0.30647	N	0.755849	D	0.67145	0.996	D	0.77557	0.99	T	0.44711	-0.9310	10	0.72032	D	0.01	-27.8509	12.6959	0.57003	0.0:1.0:0.0:0.0	.	153	Q9H7N4	SFR19_HUMAN	V	153	ENSP00000353769:A153V	ENSP00000353769:A153V	A	+	2	0	SCAF1	54841879	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.759000	0.55227	2.387000	0.81309	0.561000	0.74099	GCC		0.632	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		4	7	0	0	0	1	0	4	7				
DPM1	8813	broad.mit.edu	37	20	49575387	49575387	+	5'Flank	SNP	C	C	T	rs187280062	byFrequency	TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr20:49575387C>T	ENST00000371588.5	-	0	0				DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000371582.4_5'Flank|MOCS3_ENST00000244051.1_Missense_Mutation_p.S3F	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						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						GCCATGGCTTCCCGGGAGGAG	0.522																																						ENST00000244051.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(7-9)tCc>tTc		molybdenum cofactor synthesis 3							45.0	43.0	44.0					20																	49575387		2124	4178	6302	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49575387C>T	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		20.37:g.49575387C>T	Exception_encountered						p.S3F	NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN			1	25	+			3					O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.8C>T	CCDS13434.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.131	1.011477	0.19277	.	.	ENSG00000124217	ENST00000244051	T	0.72942	-0.7	5.1	3.14	0.36123	.	0.477160	0.23139	N	0.051487	T	0.46328	0.1387	N	0.08118	0	0.09310	N	1	B	0.20368	0.044	B	0.19946	0.027	T	0.26849	-1.0091	9	.	.	.	-0.7735	9.0979	0.36651	0.0:0.7744:0.1469:0.0787	.	3	O95396	MOCS3_HUMAN	F	3	ENSP00000244051:S3F	.	S	+	2	0	MOCS3	49008794	0.000000	0.05858	0.086000	0.20670	0.059000	0.15707	0.277000	0.18734	0.832000	0.34804	0.655000	0.94253	TCC		0.522	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		13	52	0	0	0	1	0	13	52				
HGF	3082	broad.mit.edu	37	7	81339548	81339548	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:81339548A>T	ENST00000222390.5	-	13	1682	c.1456T>A	c.(1456-1458)Tct>Act	p.S486T	HGF_ENST00000457544.2_Missense_Mutation_p.S481T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	486					activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TTGGCACAAGATATTACGGGA	0.313																																						ENST00000222390.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(1456-1458)Tct>Act		hepatocyte growth factor (hepapoietin A; scatter factor)							128.0	114.0	118.0					7																	81339548		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81339548A>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1456T>A	7.37:g.81339548A>T	ENSP00000222390:p.Ser486Thr					HGF_ENST00000457544.2_Missense_Mutation_p.S481T	p.S486T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			13	1682	-			486					A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.1456T>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.474143	0.26423	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.87966	-2.32;-2.28	5.2	4.02	0.46733	.	0.276578	0.41001	N	0.000977	T	0.68778	0.3038	N	0.05351	-0.065	0.80722	D	1	B;B	0.16603	0.018;0.01	B;B	0.14578	0.011;0.005	T	0.56786	-0.7921	10	0.20046	T	0.44	.	3.6319	0.08135	0.6862:0.0:0.1248:0.1889	.	481;486	P14210-3;P14210	.;HGF_HUMAN	T	486;481	ENSP00000222390:S486T;ENSP00000391238:S481T	ENSP00000222390:S486T	S	-	1	0	HGF	81177484	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	1.717000	0.37991	0.884000	0.36064	0.455000	0.32223	TCT		0.313	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		49	27	0	0	0	1	0	49	27				
ANKS1B	56899	broad.mit.edu	37	12	100200410	100200410	+	Silent	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:100200410G>A	ENST00000547776.2	-	4	440	c.441C>T	c.(439-441)ctC>ctT	p.L147L	ANKS1B_ENST00000329257.7_Silent_p.L147L|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	147						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GCTCTTCTAGGAGAACAGCAA	0.418																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(439-441)ctC>ctT		ankyrin repeat and sterile alpha motif domain containing 1B							116.0	112.0	113.0					12																	100200410		1941	4151	6092	SO:0001819	synonymous_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100200410G>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.441C>T	12.37:g.100200410G>A						ANKS1B_ENST00000329257.7_Silent_p.L147L|ANKS1B_ENST00000547010.1_Intron	p.L147L	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	4	440	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	147					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	c.441C>T	CCDS55872.1																																																																																				0.418	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		9	29	0	0	0	1	0	9	29				
SI	6476	broad.mit.edu	37	3	164758727	164758727	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:164758727C>T	ENST00000264382.3	-	18	2222		c.e18+1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTAGTACTCACTCATGAAGAA	0.318										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.e18+1		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						113.0	113.0	113.0					3																	164758727		2203	4300	6503	SO:0001630	splice_region_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164758727C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2159+1G>A	3.37:g.164758727C>T		HNSCC(35;0.089)						NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			18	2222	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)						A2RUC3|Q1JQ80|Q1RMC2	Splice_Site	SNP	ENST00000264382.3	37		CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477241	0.63849	.	.	ENSG00000090402	ENST00000264382	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9529	0.71088	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SI	166241421	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	6.878000	0.75567	2.622000	0.88805	0.549000	0.68633	.		0.318	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	Intron	51	123	0	0	0	1	0	51	123				
TUBGCP2	10844	broad.mit.edu	37	10	135113043	135113043	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr10:135113043C>T	ENST00000252936.3	-	3	383	c.344G>A	c.(343-345)aGc>aAc	p.S115N	TUBGCP2_ENST00000417178.2_5'UTR|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.S115N|TUBGCP2_ENST00000470829.1_5'UTR|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.S115N			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	115					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GGTGGTACTGCTGCCCACAGC	0.552																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(343-345)aGc>aAc		tubulin, gamma complex associated protein 2							105.0	86.0	93.0					10																	135113043		2203	4300	6503	SO:0001583	missense	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135113043C>T	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.344G>A	10.37:g.135113043C>T	ENSP00000252936:p.Ser115Asn					TUBGCP2_ENST00000543663.1_Missense_Mutation_p.S115N|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.S115N|TUBGCP2_ENST00000417178.2_5'UTR|TUBGCP2_ENST00000470829.1_5'UTR	p.S115N	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	4	700	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	115					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	c.344G>A	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739748	0.49045	.	.	ENSG00000130640	ENST00000252936;ENST00000368563;ENST00000543663	T;T;T	0.15017	2.5;2.5;2.46	5.35	4.44	0.53790	.	0.457912	0.27831	N	0.017664	T	0.14442	0.0349	L	0.46157	1.445	0.80722	D	1	P;P;B	0.39665	0.682;0.554;0.411	B;B;B	0.32677	0.15;0.072;0.072	T	0.05209	-1.0899	10	0.29301	T	0.29	-17.9213	13.41	0.60938	0.0:0.8421:0.1579:0.0	.	115;115;115	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	N	115	ENSP00000252936:S115N;ENSP00000357551:S115N;ENSP00000446093:S115N	ENSP00000252936:S115N	S	-	2	0	TUBGCP2	134963033	0.998000	0.40836	0.078000	0.20375	0.037000	0.13140	3.316000	0.51960	1.379000	0.46325	0.655000	0.94253	AGC		0.552	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			24	20	0	0	0	1	0	24	20				
GRM3	2913	broad.mit.edu	37	7	86415985	86415985	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:86415985G>A	ENST00000361669.2	+	3	1976	c.877G>A	c.(877-879)Gcc>Acc	p.A293T	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.A291T|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.A293T|GRM3_ENST00000536043.1_Missense_Mutation_p.A165T|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	293					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCGCGCCAATGCCTCCTTCAC	0.672																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(877-879)Gcc>Acc		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						32.0	37.0	36.0					7																	86415985		2200	4289	6489	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415985G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.877G>A	7.37:g.86415985G>A	ENSP00000355316:p.Ala293Thr					GRM3_ENST00000394720.2_Missense_Mutation_p.A291T|GRM3_ENST00000536043.1_Missense_Mutation_p.A165T|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.A293T|GRM3_ENST00000546348.1_Intron	p.A293T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1976	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		293					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.877G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427855	0.43122	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09	6.07	2.36	0.29203	Extracellular ligand-binding receptor (1);	0.210963	0.49916	N	0.000128	T	0.77758	0.4178	L	0.28556	0.865	0.46609	D	0.999126	B;B;B	0.19445	0.008;0.036;0.004	B;B;B	0.22601	0.023;0.037;0.04	T	0.64223	-0.6458	10	0.18710	T	0.47	.	10.5549	0.45112	0.2588:0.0:0.7412:0.0	.	165;293;293	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	T	293;165;165;293;291	ENSP00000355316:A293T;ENSP00000405427:A165T;ENSP00000441407:A165T;ENSP00000398767:A293T;ENSP00000378209:A291T	ENSP00000355316:A293T	A	+	1	0	GRM3	86253921	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	3.256000	0.51492	0.169000	0.19679	-0.137000	0.14449	GCC		0.672	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			31	48	0	0	0	1	0	31	48				
TAAR1	134864	broad.mit.edu	37	6	132966643	132966643	+	Missense_Mutation	SNP	C	C	T	rs538751400		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:132966643C>T	ENST00000275216.1	-	1	499	c.500G>A	c.(499-501)gGc>gAc	p.G167D		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	167					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	CTCTTCAGCGCCTTTGAAGTT	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		20287	0.001		0.0	False		,,,				2504	0.0					ENST00000275216.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18						c.(499-501)gGc>gAc		trace amine associated receptor 1	Amphetamine(DB00182)						68.0	71.0	70.0					6																	132966643		2202	4299	6501	SO:0001583	missense	134864					plasma membrane		g.chr6:132966643C>T	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.500G>A	6.37:g.132966643C>T	ENSP00000275216:p.Gly167Asp						p.G167D	NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	1	499	-	Breast(56;0.135)		167					Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	ENST00000275216.1	37	c.500G>A	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.208112	0.58343	.	.	ENSG00000146399	ENST00000275216	T	0.71579	-0.58	5.93	5.93	0.95920	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66665	0.2812	L	0.61218	1.895	0.53688	D	0.999973	B	0.32862	0.387	B	0.37091	0.241	T	0.68880	-0.5292	10	0.62326	D	0.03	-10.4082	20.3396	0.98756	0.0:1.0:0.0:0.0	.	167	Q96RJ0	TAAR1_HUMAN	D	167	ENSP00000275216:G167D	ENSP00000275216:G167D	G	-	2	0	TAAR1	133008336	0.991000	0.36638	0.977000	0.42913	0.321000	0.28281	2.882000	0.48546	2.812000	0.96745	0.555000	0.69702	GGC		0.373	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		17	25	0	0	0	1	0	17	25				
KRT5	3852	broad.mit.edu	37	12	52913888	52913888	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:52913888G>T	ENST00000252242.4	-	1	583	c.193C>A	c.(193-195)Ctc>Atc	p.L65I		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	65	Gly-rich.|Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGTTGTAGAGGCTCCGGCTG	0.642																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(193-195)Ctc>Atc		keratin 5							51.0	65.0	61.0					12																	52913888		2203	4300	6503	SO:0001583	missense	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913888G>T		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.193C>A	12.37:g.52913888G>T	ENSP00000252242:p.Leu65Ile						p.L65I	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	583	-			65			Gly-rich.|Head.		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	c.193C>A	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170364	0.57584	.	.	ENSG00000186081	ENST00000252242;ENST00000546577	D;T	0.85629	-2.01;1.49	5.93	5.93	0.95920	.	0.000000	0.51477	D	0.000097	D	0.83547	0.5278	M	0.76938	2.355	0.33372	D	0.573722	P	0.40731	0.728	B	0.28139	0.086	D	0.90186	0.4246	10	0.87932	D	0	.	16.7832	0.85567	0.0:0.137:0.863:0.0	.	65	P13647	K2C5_HUMAN	I	65	ENSP00000252242:L65I;ENSP00000449651:L65I	ENSP00000252242:L65I	L	-	1	0	KRT5	51200155	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.017000	0.49615	2.814000	0.96858	0.655000	0.94253	CTC		0.642	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			45	74	1	0	6.68952e-21	1	7.69872e-21	45	74				
SIPA1L3	23094	broad.mit.edu	37	19	38600900	38600900	+	Missense_Mutation	SNP	G	G	A	rs539232870		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:38600900G>A	ENST00000222345.6	+	8	2676	c.2167G>A	c.(2167-2169)Gtg>Atg	p.V723M	CTC-450M9.1_ENST00000599092.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	723	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAATGACATCGTGACGATCAT	0.592																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(2167-2169)Gtg>Atg		signal-induced proliferation-associated 1 like 3							220.0	163.0	182.0					19																	38600900		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38600900G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2167G>A	19.37:g.38600900G>A	ENSP00000222345:p.Val723Met						p.V723M	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		8	2676	+			723			Rap-GAP.		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.2167G>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907160	0.92107	.	.	ENSG00000105738	ENST00000222345	D	0.97791	-4.54	5.22	5.22	0.72569	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.99263	0.9743	H	0.98256	4.185	0.58432	D	0.999998	D	0.76494	0.999	D	0.74023	0.982	D	0.98755	1.0722	10	0.87932	D	0	-25.5851	17.5462	0.87863	0.0:0.0:1.0:0.0	.	723	O60292	SI1L3_HUMAN	M	723	ENSP00000222345:V723M	ENSP00000222345:V723M	V	+	1	0	SIPA1L3	43292740	1.000000	0.71417	0.992000	0.48379	0.900000	0.52787	8.005000	0.88553	2.460000	0.83146	0.555000	0.69702	GTG		0.592	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		6	79	0	0	0	1	0	6	79				
EFNB3	1949	broad.mit.edu	37	17	7611407	7611407	+	Missense_Mutation	SNP	G	G	A	rs562472485		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7611407G>A	ENST00000226091.2	+	2	651	c.254G>A	c.(253-255)gGg>gAg	p.G85E		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	85	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TACCTGGTAGGGGGTGCTCAG	0.627																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(253-255)gGg>gAg		ephrin-B3							57.0	65.0	62.0					17																	7611407		2202	4300	6502	SO:0001583	missense	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7611407G>A	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.254G>A	17.37:g.7611407G>A	ENSP00000226091:p.Gly85Glu						p.G85E	NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN			2	651	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	85					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Missense_Mutation	SNP	ENST00000226091.2	37	c.254G>A	CCDS11120.1	.	.	.	.	.	.	.	.	.	.	G	0.615	-0.823645	0.02755	.	.	ENSG00000108947	ENST00000226091	D	0.94862	-3.54	4.84	2.82	0.32997	Cupredoxin (2);	0.252771	0.34603	N	0.003821	D	0.84875	0.5569	N	0.17312	0.475	0.30413	N	0.778861	B	0.06786	0.001	B	0.09377	0.004	T	0.71642	-0.4531	10	0.02654	T	1	-1.5288	8.6214	0.33864	0.2542:0.0:0.7458:0.0	.	85	Q15768	EFNB3_HUMAN	E	85	ENSP00000226091:G85E	ENSP00000226091:G85E	G	+	2	0	EFNB3	7552132	0.792000	0.28813	0.996000	0.52242	0.362000	0.29581	1.458000	0.35223	0.619000	0.30197	0.579000	0.79373	GGG		0.627	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		39	30	0	0	0	1	0	39	30				
ADAM8	101	broad.mit.edu	37	10	135086790	135086790	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr10:135086790G>A	ENST00000445355.3	-	6	591	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	ADAM8_ENST00000485491.2_Missense_Mutation_p.R142W|ADAM8_ENST00000559180.1_5'Flank|ADAM8_ENST00000415217.3_Missense_Mutation_p.R181W	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	181					activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		GCTGCCGTCCGGGGTCCCAGG	0.711																																						ENST00000445355.3																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17						c.(541-543)Cgg>Tgg		ADAM metallopeptidase domain 8							7.0	11.0	10.0					10																	135086790		2129	4230	6359	SO:0001583	missense	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135086790G>A	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.541C>T	10.37:g.135086790G>A	ENSP00000453302:p.Arg181Trp					ADAM8_ENST00000415217.3_Missense_Mutation_p.R181W|ADAM8_ENST00000485491.2_Missense_Mutation_p.R142W	p.R181W	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	6	591	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	142					B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	37	c.541C>T	CCDS31319.2																																																																																				0.711	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		6	3	0	0	0	1	0	6	3				
PPM1F	9647	broad.mit.edu	37	22	22279896	22279896	+	Intron	SNP	T	T	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr22:22279896T>A	ENST00000263212.5	-	7	1091				PPM1F_ENST00000538191.1_Intron|PPM1F_ENST00000407142.1_Intron|PPM1F_ENST00000397495.4_Missense_Mutation_p.K344M	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F						cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		AGGCCTGGGCTTCCGAGAGAC	0.632																																						ENST00000397495.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(1030-1032)aAg>aTg		protein phosphatase, Mg2+/Mn2+ dependent, 1F							32.0	28.0	29.0					22																	22279896		2203	4300	6503	SO:0001627	intron_variant	9647				apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr22:22279896T>A	D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.985+45A>T	22.37:g.22279896T>A						PPM1F_ENST00000263212.5_Intron|PPM1F_ENST00000407142.1_Intron|PPM1F_ENST00000538191.1_Intron	p.K344M			P49593	PPM1F_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	7	1130	-	Colorectal(54;0.105)		0					A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	ENST00000263212.5	37	c.1031A>T	CCDS13796.1	.	.	.	.	.	.	.	.	.	.	T	9.017	0.983912	0.18889	.	.	ENSG00000100034	ENST00000397495	T	0.24350	1.86	1.82	-0.674	0.11369	.	.	.	.	.	T	0.11153	0.0272	.	.	.	0.09310	N	0.999999	B	0.14012	0.009	B	0.06405	0.002	T	0.32322	-0.9911	7	.	.	.	.	1.4336	0.02339	0.3211:0.2207:0.0:0.4581	.	344	A8MX49	.	M	344	ENSP00000380632:K344M	.	K	-	2	0	PPM1F	20609896	0.000000	0.05858	0.004000	0.12327	0.033000	0.12548	-0.668000	0.05268	-0.040000	0.13580	0.379000	0.24179	AAG		0.632	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		3	30	0	0	0	1	0	3	30				
TAS2R41	259287	broad.mit.edu	37	7	143175140	143175140	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:143175140C>A	ENST00000408916.1	+	1	175	c.175C>A	c.(175-177)Cag>Aag	p.Q59K	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	59					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTTCTGCCTGCAGTTGGTTGG	0.567																																						ENST00000408916.1																			0				endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18						c.(175-177)Cag>Aag		taste receptor, type 2, member 41							127.0	127.0	127.0					7																	143175140		2066	4205	6271	SO:0001583	missense	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175140C>A	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.175C>A	7.37:g.143175140C>A	ENSP00000386201:p.Gln59Lys					EPHA1-AS1_ENST00000429289.1_RNA	p.Q59K	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN			1	175	+	Melanoma(164;0.15)		59					P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	c.175C>A	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213815	0.58452	.	.	ENSG00000221855	ENST00000408916	T	0.00864	5.6	5.76	5.76	0.90799	.	0.104492	0.37053	U	0.002265	T	0.07863	0.0197	M	0.89840	3.065	0.35017	D	0.757433	D	0.71674	0.998	D	0.70227	0.968	T	0.02081	-1.1217	10	0.59425	D	0.04	.	17.4632	0.87625	0.0:1.0:0.0:0.0	.	59	P59536	T2R41_HUMAN	K	59	ENSP00000386201:Q59K	ENSP00000386201:Q59K	Q	+	1	0	TAS2R41	142885262	0.911000	0.30947	1.000000	0.80357	0.064000	0.16182	1.241000	0.32743	2.733000	0.93635	0.655000	0.94253	CAG		0.567	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			20	85	1	0	5.35267e-07	1	5.73961e-07	20	85				
HIST1H4E	8367	broad.mit.edu	37	6	26205070	26205070	+	Silent	SNP	G	G	A	rs145407769	byFrequency	TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:26205070G>A	ENST00000360441.4	+	1	213	c.198G>A	c.(196-198)gtG>gtA	p.V66V		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	66					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.V66V(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TGGAAAACGTGATTCGTGATG	0.567																																						ENST00000360441.4																			1	Substitution - coding silent(1)	p.V66V(1)	ovary(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18						c.(196-198)gtG>gtA		histone cluster 1, H4e							140.0	125.0	130.0					6																	26205070		2203	4300	6503	SO:0001819	synonymous_variant	8367				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26205070G>A	Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.198G>A	6.37:g.26205070G>A							p.V66V	NM_003545.3	NP_003536.1	P62805	H4_HUMAN			1	213	+		all_hematologic(11;0.196)	66					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000360441.4	37	c.198G>A	CCDS4593.1																																																																																				0.567	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		17	34	0	0	0	1	0	17	34				
GABRG1	2565	broad.mit.edu	37	4	46067594	46067594	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:46067594G>T	ENST00000295452.4	-	4	496	c.329C>A	c.(328-330)aCa>aAa	p.T110K		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	110					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	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)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|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)	TATATCTATTGTATATTCCTA	0.274																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(328-330)aCa>aAa		gamma-aminobutyric acid (GABA) A receptor, gamma 1							23.0	24.0	24.0					4																	46067594		2187	4286	6473	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46067594G>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.329C>A	4.37:g.46067594G>T	ENSP00000295452:p.Thr110Lys						p.T110K	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	4	496	-			110					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.329C>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235038	0.79800	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.80738	-1.41	5.08	5.08	0.68730	Neurotransmitter-gated ion-channel ligand-binding (3);	0.055575	0.64402	D	0.000001	D	0.89581	0.6756	M	0.80982	2.52	0.80722	D	1	D	0.67145	0.996	D	0.65773	0.938	D	0.90772	0.4673	10	0.66056	D	0.02	.	17.8218	0.88652	0.0:0.0:1.0:0.0	.	110	Q8N1C3	GBRG1_HUMAN	K	110	ENSP00000295452:T110K	ENSP00000295452:T110K	T	-	2	0	GABRG1	45762351	1.000000	0.71417	0.997000	0.53966	0.630000	0.37929	6.604000	0.74150	2.513000	0.84729	0.508000	0.49915	ACA		0.274	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		6	3	1	0	3.59834e-05	1	3.82771e-05	6	3				
ALS2	57679	broad.mit.edu	37	2	202569217	202569217	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:202569217C>T	ENST00000264276.6	-	32	5170	c.4798G>A	c.(4798-4800)Gac>Aac	p.D1600N	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1600	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GGAAACAAGTCATCCATGGAC	0.433																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(4798-4800)Gac>Aac		amyotrophic lateral sclerosis 2 (juvenile)							106.0	96.0	99.0					2																	202569217		1875	4127	6002	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202569217C>T	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.4798G>A	2.37:g.202569217C>T	ENSP00000264276:p.Asp1600Asn					ALS2_ENST00000457679.2_3'UTR	p.D1600N	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			32	5170	-			1600			VPS9.		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.4798G>A	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	35	5.484832	0.96323	.	.	ENSG00000003393	ENST00000264276	T	0.37058	1.22	5.53	5.53	0.82687	Vacuolar sorting protein 9 (2);	0.196695	0.52532	D	0.000064	T	0.59609	0.2206	M	0.64170	1.965	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.54814	-0.8237	10	0.42905	T	0.14	.	19.8372	0.96661	0.0:1.0:0.0:0.0	.	1600	Q96Q42	ALS2_HUMAN	N	1600	ENSP00000264276:D1600N	ENSP00000264276:D1600N	D	-	1	0	ALS2	202277462	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.776000	0.85560	2.770000	0.95276	0.655000	0.94253	GAC		0.433	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		11	53	0	0	0	1	0	11	53				
CPSF1	29894	broad.mit.edu	37	8	145622721	145622721	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:145622721C>T	ENST00000349769.3	-	22	2460	c.2366G>A	c.(2365-2367)cGg>cAg	p.R789Q	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	789					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.R789L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCCATTCTCCCGCACCAGCAG	0.672																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			1	Substitution - Missense(1)	p.R789L(1)	central_nervous_system(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2365-2367)cGg>cAg		cleavage and polyadenylation specific factor 1, 160kDa							28.0	32.0	31.0					8																	145622721		2203	4295	6498	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145622721C>T	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2366G>A	8.37:g.145622721C>T	ENSP00000339353:p.Arg789Gln						p.R789Q	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		22	2460	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		789					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.2366G>A	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319619	0.95682	.	.	ENSG00000071894	ENST00000349769	T	0.49432	0.78	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.66247	0.2770	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.68138	-0.5488	10	0.51188	T	0.08	-34.8036	15.9944	0.80230	0.0:1.0:0.0:0.0	.	789	Q10570	CPSF1_HUMAN	Q	789	ENSP00000339353:R789Q	ENSP00000339353:R789Q	R	-	2	0	CPSF1	145593529	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.965000	0.76067	2.387000	0.81309	0.491000	0.48974	CGG		0.672	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		10	22	0	0	0	1	0	10	22				
TRIB2	28951	broad.mit.edu	37	2	12880597	12880597	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:12880597G>T	ENST00000155926.4	+	3	2128	c.709G>T	c.(709-711)Gtg>Ttg	p.V237L	TRIB2_ENST00000381465.2_Missense_Mutation_p.V101L	NM_021643.3	NP_067675.1			tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCAGCCGACGTGTGGAGCCT	0.587																																						ENST00000155926.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(709-711)Gtg>Ttg		tribbles pseudokinase 2							84.0	65.0	71.0					2																	12880597		2203	4300	6503	SO:0001583	missense	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12880597G>T	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.709G>T	2.37:g.12880597G>T	ENSP00000155926:p.Val237Leu					TRIB2_ENST00000381465.2_Missense_Mutation_p.V101L	p.V237L	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN			3	2128	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		237			Protein kinase.			Missense_Mutation	SNP	ENST00000155926.4	37	c.709G>T	CCDS1683.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653859	0.88056	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.75938	-0.98;-0.98	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81791	0.4897	L	0.48935	1.535	0.80722	D	1	D	0.59767	0.986	P	0.60789	0.879	T	0.81252	-0.1017	10	0.54805	T	0.06	-16.5546	19.354	0.94404	0.0:0.0:1.0:0.0	.	237	Q92519	TRIB2_HUMAN	L	237;101	ENSP00000155926:V237L;ENSP00000370874:V101L	ENSP00000155926:V237L	V	+	1	0	TRIB2	12798048	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	GTG		0.587	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	NM_021643		33	28	1	0	2.47316e-13	1	2.77451e-13	33	28				
DNM1P47	100216544	broad.mit.edu	37	15	102294715	102294715	+	RNA	SNP	C	C	T	rs377395363		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:102294715C>T	ENST00000561463.1	+	0	2761									DNM1 pseudogene 47																		AGCAGGCAGACCAAGGAGTTC	0.587																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102294715C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294715C>T														0	2761	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	27	0	0	0	1	0	3	27				
CTNNB1	1499	broad.mit.edu	37	3	41266063	41266063	+	Silent	SNP	G	G	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:41266063G>C	ENST00000349496.5	+	3	340	c.60G>C	c.(58-60)gcG>gcC	p.A20A	CTNNB1_ENST00000396183.3_Silent_p.A20A|CTNNB1_ENST00000405570.1_Silent_p.A20A|CTNNB1_ENST00000453024.1_Silent_p.A13A|CTNNB1_ENST00000396185.3_Silent_p.A20A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	20	Interaction with VCL. {ECO:0000250}.				adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.?(4)|p.T3_A126del(2)|p.A5fs*7(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.D6_S29del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.A20A(1)|p.A20_A80del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.A20_S111del(1)|p.A5_I35del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		ACAGAAAAGCGGCTGTTAGTC	0.438		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	100	Deletion - In frame(76)|Complex - deletion inframe(14)|Unknown(7)|Deletion - Frameshift(2)|Substitution - coding silent(1)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.?(4)|p.T3_A126del(2)|p.A5fs*7(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.D6_S29del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.A20A(1)|p.A20_A80del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.A20_S111del(1)|p.A5_I35del(1)	liver(74)|large_intestine(18)|small_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|skin(2)|adrenal_gland(1)|stomach(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(58-60)gcG>gcC		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						88.0	76.0	80.0					3																	41266063		2203	4300	6503	SO:0001819	synonymous_variant	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266063G>C	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.60G>C	3.37:g.41266063G>C						CTNNB1_ENST00000396183.3_Silent_p.A20A|CTNNB1_ENST00000453024.1_Silent_p.A13A|CTNNB1_ENST00000396185.3_Silent_p.A20A|CTNNB1_ENST00000405570.1_Silent_p.A20A	p.A20A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	340	+			20			Interaction with VCL (By similarity).		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Silent	SNP	ENST00000349496.5	37	c.60G>C	CCDS2694.1																																																																																				0.438	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		9	12	0	0	0	1	0	9	12				
CCDC171	203238	broad.mit.edu	37	9	15723736	15723736	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:15723736A>G	ENST00000380701.3	+	13	1811	c.1483A>G	c.(1483-1485)Aat>Gat	p.N495D	CCDC171_ENST00000297641.3_Missense_Mutation_p.N495D	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	495			N -> I (in dbSNP:rs10962127).														TCACACTAAAAATATAAAGGT	0.274																																						ENST00000380701.3																			0											c.(1483-1485)Aat>Gat		coiled-coil domain containing 171							32.0	35.0	34.0					9																	15723736		2195	4265	6460	SO:0001583	missense	203238							g.chr9:15723736A>G	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1483A>G	9.37:g.15723736A>G	ENSP00000370077:p.Asn495Asp					CCDC171_ENST00000297641.3_Missense_Mutation_p.N495D	p.N495D	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			13	1811	+			495		N -> I (in dbSNP:rs10962127).			B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.1483A>G	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.755698	0.31046	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.44881	0.91;0.91	5.66	4.45	0.53987	.	0.820361	0.11527	N	0.555102	T	0.28599	0.0708	N	0.24115	0.695	0.80722	D	1	P;P;P	0.37276	0.589;0.589;0.589	B;B;B	0.33392	0.163;0.085;0.163	T	0.06180	-1.0841	10	0.36615	T	0.2	-4.8921	11.332	0.49482	0.865:0.0:0.0:0.135	.	503;495;495	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	D	495	ENSP00000297641:N495D;ENSP00000370077:N495D	ENSP00000297641:N495D	N	+	1	0	C9orf93	15713736	0.875000	0.30112	1.000000	0.80357	0.996000	0.88848	1.195000	0.32186	2.279000	0.76181	0.533000	0.62120	AAT		0.274	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		9	13	0	0	0	1	0	9	13				
PLB1	151056	broad.mit.edu	37	2	28766125	28766125	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:28766125G>A	ENST00000327757.5	+	14	970	c.926G>A	c.(925-927)tGg>tAg	p.W309*	PLB1_ENST00000422425.2_Nonsense_Mutation_p.W320*	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	309	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGGCATCTCTGGAATAGGATG	0.617																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(958-960)tGg>tAg		phospholipase B1							37.0	37.0	37.0					2																	28766125		2203	4300	6503	SO:0001587	stop_gained	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28766125G>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.926G>A	2.37:g.28766125G>A	ENSP00000330442:p.Trp309*					PLB1_ENST00000327757.5_Nonsense_Mutation_p.W309*	p.W320*	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			14	1003	+	Acute lymphoblastic leukemia(172;0.155)		309			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Nonsense_Mutation	SNP	ENST00000327757.5	37	c.959G>A	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.871377|5.871377	0.97049|0.97049	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000327757;ENST00000422425	.|.	.|.	.|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	.|0.152345	.|0.46758	.|D	.|0.000275	T|.	0.41259|.	0.1151|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27839|.	-1.0062|.	4|.	.|0.02654	.|T	.|1	-12.2731|-12.2731	14.2174|14.2174	0.65802|0.65802	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	319|309;320	.|.	.|ENSP00000330442:W309X	G|W	+|+	1|2	0|0	PLB1|PLB1	28619629|28619629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.717000|0.717000	0.41224|0.41224	4.133000|4.133000	0.57983|0.57983	2.619000|2.619000	0.88677|0.88677	0.555000|0.555000	0.69702|0.69702	GGA|TGG		0.617	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			14	8	0	0	0	1	0	14	8				
BCL11A	53335	broad.mit.edu	37	2	60695932	60695932	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:60695932C>G	ENST00000335712.6	-	3	649	c.422G>C	c.(421-423)cGt>cCt	p.R141P	BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.R141P|BCL11A_ENST00000359629.5_Missense_Mutation_p.R141P|BCL11A_ENST00000358510.4_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	141	Required for nuclear body formation and for SUMO1 recruitment. {ECO:0000250}.				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)			ATGTGCAGAACGAGGGGAGGA	0.473			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.(421-423)cGt>cCt		B-cell CLL/lymphoma 11A (zinc finger protein)							65.0	65.0	65.0					2																	60695932		2203	4300	6503	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.chr2:60695932C>G	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.422G>C	2.37:g.60695932C>G	ENSP00000338774:p.Arg141Pro					BCL11A_ENST00000356842.4_Missense_Mutation_p.R141P|BCL11A_ENST00000359629.5_Missense_Mutation_p.R141P|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000358510.4_Intron	p.R141P	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)		3	649	-			141			Required for nuclear body formation and for SUMO1 recruitment (By similarity).		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.422G>C	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860395	0.32884	.	.	ENSG00000119866	ENST00000356842;ENST00000359629;ENST00000378117;ENST00000335712	T;T	0.08896	3.04;3.33	5.21	5.21	0.72293	.	0.547984	0.16709	N	0.202790	T	0.08626	0.0214	N	0.08118	0	0.80722	D	1	B;P;B	0.47841	0.0;0.901;0.0	B;P;B	0.50970	0.001;0.655;0.0	T	0.47195	-0.9136	10	0.32370	T	0.25	-1.6008	14.1117	0.65126	0.0:1.0:0.0:0.0	.	141;141;141	Q9H165;Q9H165-3;D9YZV9	BC11A_HUMAN;.;.	P	141;141;177;141	ENSP00000349300:R141P;ENSP00000338774:R141P	ENSP00000338774:R141P	R	-	2	0	BCL11A	60549436	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.312000	0.43726	2.710000	0.92621	0.591000	0.81541	CGT		0.473	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		10	57	0	0	0	1	0	10	57				
ZNF91	7644	broad.mit.edu	37	19	23543308	23543308	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:23543308G>T	ENST00000300619.7	-	4	2678	c.2473C>A	c.(2473-2475)Ccc>Acc	p.P825T	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.P793T|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	825					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CATTTGTAGGGTTTCTCTCCA	0.403																																						ENST00000300619.7																			0											c.(2473-2475)Ccc>Acc		zinc finger protein 91							61.0	64.0	63.0					19																	23543308		2163	4274	6437	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23543308G>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2473C>A	19.37:g.23543308G>T	ENSP00000300619:p.Pro825Thr					ZNF91_ENST00000397082.2_Missense_Mutation_p.P793T|ZNF91_ENST00000599743.1_Intron	p.P825T	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	2678	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	825					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.2473C>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837399	0.32513	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.16897	2.31;2.31	1.53	0.359	0.16088	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32133	0.0819	M	0.72353	2.195	0.31791	N	0.629654	D;D	0.71674	0.995;0.998	D;D	0.72075	0.952;0.976	T	0.34004	-0.9846	9	0.54805	T	0.06	.	3.5686	0.07909	0.1709:0.0:0.5921:0.237	.	793;825	Q05481-2;Q05481	.;ZNF91_HUMAN	T	825;793	ENSP00000300619:P825T;ENSP00000380272:P793T	ENSP00000300619:P825T	P	-	1	0	ZNF91	23335148	0.807000	0.29009	0.041000	0.18516	0.097000	0.18754	1.553000	0.36255	-0.037000	0.13646	0.205000	0.17691	CCC		0.403	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		20	44	1	0	4.96729e-08	1	5.3695e-08	20	44				
HIST1H2AE	3012	broad.mit.edu	37	6	26217505	26217505	+	Silent	SNP	G	G	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:26217505G>C	ENST00000303910.2	+	1	341	c.303G>C	c.(301-303)gtG>gtC	p.V101V	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	101						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TAGGTCGCGTGACCATCGCGC	0.577																																						ENST00000303910.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10						c.(301-303)gtG>gtC		histone cluster 1, H2ae							77.0	74.0	75.0					6																	26217505		2203	4300	6503	SO:0001819	synonymous_variant	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217505G>C	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.303G>C	6.37:g.26217505G>C							p.V101V	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN			1	341	+		all_hematologic(11;0.196)	101					P28001|Q76P63	Silent	SNP	ENST00000303910.2	37	c.303G>C	CCDS4595.1																																																																																				0.577	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		29	35	0	0	0	1	0	29	35				
GEN1	348654	broad.mit.edu	37	2	17955652	17955652	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:17955652C>T	ENST00000381254.2	+	11	1400	c.1186C>T	c.(1186-1188)Caa>Taa	p.Q396*	GEN1_ENST00000317402.7_Nonsense_Mutation_p.Q396*|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	396					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAACTCTAATCAACTACAGCC	0.343								Homologous recombination																														ENST00000381254.2																			0				breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(1186-1188)Caa>Taa	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease							97.0	105.0	103.0					2																	17955652		2203	4300	6503	SO:0001587	stop_gained	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17955652C>T	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1186C>T	2.37:g.17955652C>T	ENSP00000370653:p.Gln396*					GEN1_ENST00000317402.7_Nonsense_Mutation_p.Q396*|SMC6_ENST00000402989.1_Intron	p.Q396*	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN			11	1400	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		396					Q17RS9|Q6ZN37	Nonsense_Mutation	SNP	ENST00000381254.2	37	c.1186C>T	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	C	36	5.841039	0.97009	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873;ENST00000536097	.	.	.	5.31	4.44	0.53790	.	0.160423	0.40640	N	0.001048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-15.4913	13.6489	0.62299	0.0:0.924:0.0:0.076	.	.	.	.	X	396;396;167;33	.	ENSP00000318977:Q396X	Q	+	1	0	GEN1	17819133	1.000000	0.71417	0.797000	0.32132	0.569000	0.35902	7.035000	0.76517	1.237000	0.43756	-0.145000	0.13849	CAA		0.343	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		19	92	0	0	0	1	0	19	92				
GRM5	2915	broad.mit.edu	37	11	88386464	88386464	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:88386464T>C	ENST00000305447.4	-	3	1168	c.1019A>G	c.(1018-1020)tAt>tGt	p.Y340C	GRM5_ENST00000393297.1_Missense_Mutation_p.Y340C|GRM5_ENST00000305432.5_Missense_Mutation_p.Y340C|GRM5_ENST00000455756.2_Missense_Mutation_p.Y340C|GRM5_ENST00000418177.2_Missense_Mutation_p.Y340C	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	340					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CTTCAGATAATAATCATCAAA	0.478																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1018-1020)tAt>tGt		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						98.0	99.0	99.0					11																	88386464		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88386464T>C	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1019A>G	11.37:g.88386464T>C	ENSP00000306138:p.Tyr340Cys					GRM5_ENST00000305447.4_Missense_Mutation_p.Y340C|GRM5_ENST00000393297.1_Missense_Mutation_p.Y340C|GRM5_ENST00000305432.5_Missense_Mutation_p.Y340C|GRM5_ENST00000455756.2_Missense_Mutation_p.Y340C	p.Y340C			P41594	GRM5_HUMAN			4	1386	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	340					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.1019A>G	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.409213	0.83340	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.95092	0.8410	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96075	0.9049	9	.	.	.	.	16.2898	0.82742	0.0:0.0:0.0:1.0	.	340;340	P41594-2;P41594	.;GRM5_HUMAN	C	340	ENSP00000402912:Y340C;ENSP00000405690:Y340C;ENSP00000305905:Y340C;ENSP00000306138:Y340C;ENSP00000376975:Y340C	.	Y	-	2	0	GRM5	88026112	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.250000	0.74265	0.482000	0.46254	TAT		0.478	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		14	34	0	0	0	1	0	14	34				
SIK3	23387	broad.mit.edu	37	11	116719994	116719994	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:116719994C>A	ENST00000292055.4	-	21	3378	c.3343G>T	c.(3343-3345)Gtc>Ttc	p.V1115F	SIK3_ENST00000375300.1_Missense_Mutation_p.V1173F|SIK3_ENST00000375288.1_Missense_Mutation_p.V450F|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.V1113F|SIK3_ENST00000542607.1_Missense_Mutation_p.V1055F|SIK3_ENST00000434315.2_Missense_Mutation_p.V954F|AP006216.12_ENST00000444200.1_RNA	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1115					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TTCCCTATGACAGGCTCTGAG	0.557																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(3517-3519)Gtc>Ttc		SIK family kinase 3							65.0	59.0	61.0					11																	116719994		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116719994C>A	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.3343G>T	11.37:g.116719994C>A	ENSP00000292055:p.Val1115Phe					SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.V954F|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000542607.1_Missense_Mutation_p.V1055F|SIK3_ENST00000375288.1_Missense_Mutation_p.V450F|SIK3_ENST00000292055.4_Missense_Mutation_p.V1115F|SIK3_ENST00000446921.2_Missense_Mutation_p.V1113F	p.V1173F			Q9Y2K2	SIK3_HUMAN			21	3522	-			1115					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.3517G>T	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.27|13.27	2.187699|2.187699	0.38609|0.38609	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315	.|T;T;T;T;T	.|0.72394	.|-0.6;-0.65;1.4;-0.65;-0.25	5.02|5.02	3.13|3.13	0.36017|0.36017	.|.	.|0.000000	.|0.37348	.|U	.|0.002137	T|T	0.59376|0.59376	0.2189|0.2189	L|L	0.27053|0.27053	0.805|0.805	0.29577|0.29577	N|N	0.849479|0.849479	.|P;B;P;P	.|0.49635	.|0.49;0.306;0.49;0.926	.|B;B;B;P	.|0.45681	.|0.1;0.073;0.1;0.49	T|T	0.60895|0.60895	-0.7172|-0.7172	5|10	.|0.87932	.|D	.|0	.|.	9.1297|9.1297	0.36837|0.36837	0.0:0.7134:0.0:0.2866|0.0:0.7134:0.0:0.2866	.|.	.|1055;954;1115;450	.|A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2	.|.;.;SIK3_HUMAN;.	F|F	1214;1077|1173;1115;450;1055;954	.|ENSP00000364449:V1173F;ENSP00000292055:V1115F;ENSP00000364437:V450F;ENSP00000438108:V1055F;ENSP00000415873:V954F	.|ENSP00000292055:V1115F	C|V	-|-	2|1	0|0	SIK3|SIK3	116225204|116225204	0.458000|0.458000	0.25760|0.25760	0.599000|0.599000	0.28851|0.28851	0.929000|0.929000	0.56500|0.56500	0.754000|0.754000	0.26390|0.26390	1.114000|1.114000	0.41781|0.41781	0.557000|0.557000	0.71058|0.71058	TGT|GTC		0.557	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		8	10	1	0	0.000442599	1	0.000459821	8	10				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	34	0	0	0	1	0	15	34				
PSG1	5669	broad.mit.edu	37	19	43376172	43376172	+	Silent	SNP	G	G	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:43376172G>T	ENST00000436291.2	-	3	572	c.456C>A	c.(454-456)tcC>tcA	p.S152S	PSG1_ENST00000403380.3_Intron|PSG1_ENST00000312439.6_Silent_p.S152S|PSG1_ENST00000244296.2_Silent_p.S152S|PSG1_ENST00000595356.1_Silent_p.S152S|PSG1_ENST00000595124.1_Intron	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	152	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AGTTGCTGCTGGAGATGGAGG	0.507																																						ENST00000244296.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(454-456)tcC>tcA		pregnancy specific beta-1-glycoprotein 1							162.0	154.0	157.0					19																	43376172		2201	4299	6500	SO:0001819	synonymous_variant	5669							g.chr19:43376172G>T		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.456C>A	19.37:g.43376172G>T						PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595356.1_Silent_p.S152S|PSG1_ENST00000312439.6_Silent_p.S152S|PSG1_ENST00000436291.2_Silent_p.S152S|PSG1_ENST00000595124.1_Intron	p.S152S	NM_006905.2	NP_008836.2					3	593	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	ENST00000436291.2	37	c.456C>A	CCDS54275.1																																																																																				0.507	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			25	132	1	0	3.08376e-08	1	3.34701e-08	25	132				
ZNF148	7707	broad.mit.edu	37	3	124998000	124998000	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:124998000T>C	ENST00000360647.4	-	6	1036	c.551A>G	c.(550-552)tAt>tGt	p.Y184C	SLC12A8_ENST00000423114.2_Missense_Mutation_p.I8V|ZNF148_ENST00000484491.1_Missense_Mutation_p.Y184C|ZNF148_ENST00000485866.1_Missense_Mutation_p.Y184C|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.Y184C|ZNF148_ENST00000544464.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	184					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CTGTAAGTGATAGTTCGTTCT	0.358																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(550-552)tAt>tGt		zinc finger protein 148							155.0	160.0	158.0					3																	124998000		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124998000T>C	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.551A>G	3.37:g.124998000T>C	ENSP00000353863:p.Tyr184Cys					ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Missense_Mutation_p.Y184C|ZNF148_ENST00000492394.1_Missense_Mutation_p.Y184C|SLC12A8_ENST00000423114.2_Missense_Mutation_p.I8V|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.Y184C	p.Y184C	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			6	1036	-			184					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.551A>G	CCDS3031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.1|21.1	4.095543|4.095543	0.76870|0.76870	.|.	.|.	ENSG00000221955|ENSG00000163848	ENST00000423114|ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866;ENST00000543574	D|T;T;T;T	0.87650|0.07908	-2.28|3.15;3.15;3.15;3.15	5.03|5.03	5.03|5.03	0.67393|0.67393	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.26268|0.26268	0.0641|0.0641	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	P|D	0.38597|0.76494	0.639|0.999	B|D	0.36959|0.79784	0.237|0.993	T|T	0.00756|0.00756	-1.1579|-1.1579	9|10	0.15066|0.72032	T|D	0.55|0.01	-15.892|-15.892	14.9125|14.9125	0.70770|0.70770	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	8|184	A0AV02-2|Q9UQR1	.|ZN148_HUMAN	V|C	8|184	ENSP00000404243:I8V|ENSP00000353863:Y184C;ENSP00000420335:Y184C;ENSP00000419322:Y184C;ENSP00000420448:Y184C	ENSP00000404243:I8V|ENSP00000353863:Y184C	I|Y	-|-	1|2	0|0	SLC12A8|ZNF148	126480690|126480690	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.525000|7.525000	0.81892|0.81892	2.114000|2.114000	0.64651|0.64651	0.477000|0.477000	0.44152|0.44152	ATC|TAT		0.358	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		51	42	0	0	0	1	0	51	42				
INTS1	26173	broad.mit.edu	37	7	1542546	1542546	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:1542546G>A	ENST00000404767.3	-	3	425	c.340C>T	c.(340-342)Cca>Tca	p.P114S	INTS1_ENST00000389470.4_Missense_Mutation_p.P242S|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	114					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCTTCAATTGGCACCACAGAT	0.592																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(724-726)Cca>Tca		integrator complex subunit 1							115.0	122.0	120.0					7																	1542546		2017	4180	6197	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1542546G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.340C>T	7.37:g.1542546G>A	ENSP00000385722:p.Pro114Ser					INTS1_ENST00000404767.3_Missense_Mutation_p.P114S	p.P242S			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	4	723	-		Ovarian(82;0.0253)	114					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.724C>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672579	0.67928	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.43294	0.95;0.96	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.44582	0.1300	L	0.53249	1.67	0.80722	D	1	P;P	0.45634	0.863;0.863	B;B	0.44278	0.445;0.445	T	0.35674	-0.9779	10	0.29301	T	0.29	.	17.5978	0.88016	0.0:0.0:1.0:0.0	.	242;114	A4D212;Q8N201	.;INT1_HUMAN	S	114;242	ENSP00000385722:P114S;ENSP00000374121:P242S	ENSP00000374121:P242S	P	-	1	0	INTS1	1509072	1.000000	0.71417	0.981000	0.43875	0.973000	0.67179	9.273000	0.95719	2.374000	0.81015	0.563000	0.77884	CCA		0.592	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			6	194	0	0	0	1	0	6	194				
ZNF354C	30832	broad.mit.edu	37	5	178505879	178505879	+	Missense_Mutation	SNP	C	C	T	rs374746629		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:178505879C>T	ENST00000315475.6	+	5	752	c.446C>T	c.(445-447)tCg>tTg	p.S149L		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		ATGATAGATTCGCATGAGAAA	0.393																																						ENST00000315475.6																			0				endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30						c.(445-447)tCg>tTg		zinc finger protein 354C		C	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	95.0	100.0	98.0		446	0.9	0.0	5		98	0,8600		0,0,4300	no	missense	ZNF354C	NM_014594.1	145	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	149/555	178505879	2,13004	2203	4300	6503	SO:0001583	missense	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178505879C>T		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.446C>T	5.37:g.178505879C>T	ENSP00000324064:p.Ser149Leu						p.S149L	NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	752	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	149					Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	c.446C>T	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	C	7.826	0.718723	0.15372	4.54E-4	0.0	ENSG00000177932	ENST00000315475	T	0.05319	3.46	3.74	0.864	0.19068	.	.	.	.	.	T	0.03871	0.0109	N	0.16567	0.415	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.41431	-0.9509	9	0.42905	T	0.14	-0.0514	5.1502	0.15005	0.0:0.6102:0.1783:0.2116	.	149	Q86Y25	Z354C_HUMAN	L	149	ENSP00000324064:S149L	ENSP00000324064:S149L	S	+	2	0	ZNF354C	178438485	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	1.501000	0.35693	0.346000	0.23899	0.591000	0.81541	TCG		0.393	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			25	83	0	0	0	1	0	25	83				
FSIP2	401024	broad.mit.edu	37	2	186672644	186672644	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:186672644C>T	ENST00000424728.1	+	17	18611	c.18611C>T	c.(18610-18612)tCt>tTt	p.S6204F	FSIP2_ENST00000343098.5_Missense_Mutation_p.S6293F			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6204										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGAACAAAATCTCTAGAGACT	0.289																																						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.(18877-18879)tCt>tTt		fibrous sheath interacting protein 2							25.0	22.0	23.0					2																	186672644		1786	4044	5830	SO:0001583	missense	401024							g.chr2:186672644C>T	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.18611C>T	2.37:g.186672644C>T	ENSP00000401306:p.Ser6204Phe					FSIP2_ENST00000424728.1_Missense_Mutation_p.S6204F	p.S6293F	NM_173651.2	NP_775922.2					17	18878	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.18878C>T		.	.	.	.	.	.	.	.	.	.	C	8.545	0.874173	0.17395	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.61859	0.07;0.07	4.96	4.96	0.65561	.	0.125205	0.36854	N	0.002374	T	0.61362	0.2341	L	0.52011	1.625	0.09310	N	1	.	.	.	.	.	.	T	0.58165	-0.7684	8	0.52906	T	0.07	.	13.5718	0.61851	0.0:1.0:0.0:0.0	.	.	.	.	F	6293;6204	ENSP00000344403:S6293F;ENSP00000401306:S6204F	ENSP00000344403:S6293F	S	+	2	0	FSIP2	186380889	0.789000	0.28775	0.147000	0.22382	0.046000	0.14306	1.512000	0.35812	2.580000	0.87095	0.484000	0.47621	TCT		0.289	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		3	41	0	0	0	1	0	3	41				
CSRNP1	64651	broad.mit.edu	37	3	39186697	39186697	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:39186697A>G	ENST00000273153.5	-	3	433	c.256T>C	c.(256-258)Ttt>Ctt	p.F86L	CSRNP1_ENST00000514182.1_Missense_Mutation_p.F86L	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	86					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						ATCCCATCAAAGGCTACACGG	0.607																																						ENST00000273153.5																			0				central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						c.(256-258)Ttt>Ctt		cysteine-serine-rich nuclear protein 1							65.0	60.0	62.0					3																	39186697		2203	4300	6503	SO:0001583	missense	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39186697A>G	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.256T>C	3.37:g.39186697A>G	ENSP00000273153:p.Phe86Leu					CSRNP1_ENST00000514182.1_Missense_Mutation_p.F86L	p.F86L	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN			3	433	-			86					Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	c.256T>C	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	A	34	5.345433	0.95807	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.42513	0.97;0.97	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.69788	0.3150	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77135	-0.2699	10	0.87932	D	0	-22.9831	15.0409	0.71791	1.0:0.0:0.0:0.0	.	86	Q96S65	CSRN1_HUMAN	L	86	ENSP00000273153:F86L;ENSP00000422532:F86L	ENSP00000273153:F86L	F	-	1	0	CSRNP1	39161701	1.000000	0.71417	0.734000	0.30879	0.977000	0.68977	9.242000	0.95408	2.017000	0.59298	0.379000	0.24179	TTT		0.607	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		17	42	0	0	0	1	0	17	42				
CNTN1	1272	broad.mit.edu	37	12	41330595	41330595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:41330595G>A	ENST00000551295.2	+	10	1115	c.998G>A	c.(997-999)tGg>tAg	p.W333*	CNTN1_ENST00000547849.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000547702.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000360099.3_Nonsense_Mutation_p.W333*|CNTN1_ENST00000347616.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000348761.2_Nonsense_Mutation_p.W322*	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	333	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTCCCTGAGTGGGTAGAACAC	0.413																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(997-999)tGg>tAg		contactin 1							161.0	139.0	146.0					12																	41330595		2203	4300	6503	SO:0001587	stop_gained	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41330595G>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.998G>A	12.37:g.41330595G>A	ENSP00000447006:p.Trp333*					CNTN1_ENST00000547702.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000547849.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000347616.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000348761.2_Nonsense_Mutation_p.W322*|CNTN1_ENST00000360099.3_Nonsense_Mutation_p.W333*	p.W333*	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			10	1115	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	333			Ig-like C2-type 4.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Nonsense_Mutation	SNP	ENST00000551295.2	37	c.998G>A	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	37	6.610006	0.97705	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4988	0.95085	0.0:0.0:1.0:0.0	.	.	.	.	X	333;333;333;333;333;322	.	ENSP00000325660:W333X	W	+	2	0	CNTN1	39616862	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.230000	0.95299	2.681000	0.91329	0.650000	0.86243	TGG		0.413	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		20	72	0	0	0	1	0	20	72				
RNFT1	51136	broad.mit.edu	37	17	58040503	58040503	+	Silent	SNP	A	A	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:58040503A>G	ENST00000305783.8	-	2	254	c.199T>C	c.(199-201)Ttg>Ctg	p.L67L	RNFT1_ENST00000442346.2_Silent_p.L30L|RP11-178C3.1_ENST00000591035.1_Intron|RP11-178C3.2_ENST00000586209.1_lincRNA	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	67						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			TCTCCTGTCAATCTTGTGTGG	0.468																																						ENST00000305783.8																			0				large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(199-201)Ttg>Ctg		ring finger protein, transmembrane 1							121.0	102.0	108.0					17																	58040503		2203	4300	6503	SO:0001819	synonymous_variant	51136					integral to membrane	zinc ion binding	g.chr17:58040503A>G	BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"""RING-type (C3HC4) zinc fingers"""	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.199T>C	17.37:g.58040503A>G						RP11-178C3.1_ENST00000591035.1_Intron|RNFT1_ENST00000442346.2_Silent_p.L30L	p.L67L	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)		2	254	-	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		67					Q8N7D0|Q96IZ9|Q9Y686	Silent	SNP	ENST00000305783.8	37	c.199T>C	CCDS11622.2																																																																																				0.468	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308958.1	NM_016125		17	55	0	0	0	1	0	17	55				
FANCM	57697	broad.mit.edu	37	14	45658390	45658390	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:45658390C>T	ENST00000267430.5	+	20	5250	c.5165C>T	c.(5164-5166)cCa>cTa	p.P1722L	FANCM_ENST00000542564.2_Missense_Mutation_p.P1696L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1722					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CGTTCTACTCCAAGAGTTAAT	0.413								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(5164-5166)cCa>cTa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							143.0	142.0	142.0					14																	45658390		2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45658390C>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5165C>T	14.37:g.45658390C>T	ENSP00000267430:p.Pro1722Leu					FANCM_ENST00000542564.2_Missense_Mutation_p.P1696L	p.P1722L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			20	5250	+			1722					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.5165C>T	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879939	0.51801	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.75260	-0.92;-0.92;-0.92	5.28	3.34	0.38264	.	17.776400	0.00166	N	0.000000	T	0.72566	0.3476	M	0.61703	1.905	0.09310	N	1	B;B	0.25772	0.068;0.134	B;B	0.23852	0.022;0.049	T	0.56866	-0.7908	10	0.72032	D	0.01	.	4.5899	0.12301	0.176:0.6433:0.0:0.1807	.	1696;1722	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	L	1722;1696;1238	ENSP00000267430:P1722L;ENSP00000442493:P1696L;ENSP00000452033:P1238L	ENSP00000267430:P1722L	P	+	2	0	FANCM	44728140	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	0.591000	0.23969	1.373000	0.46208	0.650000	0.86243	CCA		0.413	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		34	77	0	0	0	1	0	34	77				
ITM2A	9452	broad.mit.edu	37	X	78618173	78618173	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:78618173G>C	ENST00000373298.2	-	4	600	c.457C>G	c.(457-459)Ctg>Gtg	p.L153V	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000434584.2_Missense_Mutation_p.L109V	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	153	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						AACAAGTCCAGGTAAGCAGTC	0.438																																						ENST00000434584.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(325-327)Ctg>Gtg		integral membrane protein 2A							75.0	68.0	70.0					X																	78618173		2203	4300	6503	SO:0001583	missense	9452					integral to membrane	protein binding	g.chrX:78618173G>C	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.457C>G	X.37:g.78618173G>C	ENSP00000362395:p.Leu153Val					ITM2A_ENST00000373298.2_Missense_Mutation_p.L153V|ITM2A_ENST00000469541.1_5'UTR	p.L109V	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN			3	661	-			153					B2R7X5|B4E062|Q6IBC9	Missense_Mutation	SNP	ENST00000373298.2	37	c.325C>G	CCDS14444.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700359	0.48307	.	.	ENSG00000078596	ENST00000373298;ENST00000434584	T;T	0.78924	-1.22;-1.22	4.62	2.2	0.27929	BRICHOS (2);	0.000000	0.64402	D	0.000004	T	0.79528	0.4461	L	0.42529	1.33	0.45515	D	0.99847	D;D	0.89917	0.997;1.0	D;D	0.87578	0.98;0.998	T	0.72603	-0.4243	10	0.24483	T	0.36	-20.0954	7.3208	0.26526	0.3455:0.0:0.6545:0.0	.	109;153	B4E062;O43736	.;ITM2A_HUMAN	V	153;109	ENSP00000362395:L153V;ENSP00000415533:L109V	ENSP00000362395:L153V	L	-	1	2	ITM2A	78504829	1.000000	0.71417	0.802000	0.32245	0.863000	0.49368	3.326000	0.52037	0.131000	0.18576	0.538000	0.68166	CTG		0.438	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867		20	1	0	0	0	1	0	20	1				
PLK3	1263	broad.mit.edu	37	1	45270391	45270391	+	Silent	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:45270391G>A	ENST00000372201.4	+	13	1814	c.1575G>A	c.(1573-1575)ctG>ctA	p.L525L	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	525	POLO box 1. {ECO:0000255|PROSITE- ProRule:PRU00154}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CCCGGGCCCTGCAGCCTCAGC	0.592																																						ENST00000372201.4																			0				endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1573-1575)ctG>ctA		polo-like kinase 3							147.0	152.0	151.0					1																	45270391		2203	4300	6503	SO:0001819	synonymous_variant	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45270391G>A	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1575G>A	1.37:g.45270391G>A						PLK3_ENST00000465443.1_3'UTR	p.L525L	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN			13	1814	+	Acute lymphoblastic leukemia(166;0.155)		525			POLO box 1.		Q15767|Q5JR99|Q96CV1	Silent	SNP	ENST00000372201.4	37	c.1575G>A	CCDS515.1																																																																																				0.592	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		4	179	0	0	0	1	0	4	179				
ZBTB39	9880	broad.mit.edu	37	12	57397279	57397279	+	Missense_Mutation	SNP	G	G	C	rs548510754		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:57397279G>C	ENST00000300101.2	-	2	1508	c.1423C>G	c.(1423-1425)Cta>Gta	p.L475V		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	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)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TTCAAGTTTAGATGGTCAAGG	0.562																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(1423-1425)Cta>Gta		zinc finger and BTB domain containing 39							56.0	53.0	54.0					12																	57397279		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57397279G>C	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1423C>G	12.37:g.57397279G>C	ENSP00000300101:p.Leu475Val						p.L475V	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	1508	-			475					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.1423C>G	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.336214	0.00224	.	.	ENSG00000166860	ENST00000300101	T	0.15372	2.43	5.7	-0.195	0.13236	.	0.633338	0.14971	N	0.287807	T	0.07324	0.0185	N	0.11698	0.16	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28202	-1.0051	10	0.37606	T	0.19	-1.4289	3.4796	0.07597	0.1605:0.3649:0.3567:0.1179	.	475	O15060	ZBT39_HUMAN	V	475	ENSP00000300101:L475V	ENSP00000300101:L475V	L	-	1	2	ZBTB39	55683546	0.987000	0.35691	0.042000	0.18584	0.688000	0.40055	1.129000	0.31381	0.039000	0.15632	0.655000	0.94253	CTA		0.562	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		13	42	0	0	0	1	0	13	42				
AHNAK	79026	broad.mit.edu	37	11	62285198	62285198	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:62285198G>C	ENST00000378024.4	-	5	16965	c.16691C>G	c.(16690-16692)cCa>cGa	p.P5564R	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5564	Gly-rich.				protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTGATTTTTGGGCCCTTCAA	0.517																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(16690-16692)cCa>cGa		AHNAK nucleoprotein							159.0	167.0	164.0					11																	62285198		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62285198G>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16691C>G	11.37:g.62285198G>C	ENSP00000367263:p.Pro5564Arg					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P5564R	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	16965	-		Melanoma(852;0.155)	5564			Gly-rich.		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.16691C>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460636	0.26248	.	.	ENSG00000124942	ENST00000378024	T	0.03212	4.01	4.91	3.99	0.46301	.	0.000000	0.39834	U	0.001252	T	0.15262	0.0368	M	0.90252	3.1	0.42258	D	0.992	P	0.48640	0.913	P	0.52109	0.69	T	0.02868	-1.1100	10	0.42905	T	0.14	-3.9469	12.9895	0.58610	0.0801:0.0:0.9199:0.0	.	5564	Q09666	AHNK_HUMAN	R	5564	ENSP00000367263:P5564R	ENSP00000367263:P5564R	P	-	2	0	AHNAK	62041774	1.000000	0.71417	0.926000	0.36857	0.230000	0.25150	4.829000	0.62737	1.046000	0.40249	0.551000	0.68910	CCA		0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		43	147	0	0	0	1	0	43	147				
DNAH1	25981	broad.mit.edu	37	3	52384124	52384124	+	Splice_Site	SNP	G	G	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:52384124G>T	ENST00000420323.2	+	15	2907	c.2646G>T	c.(2644-2646)gaG>gaT	p.E882D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	882	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGGCCTGGAGGTGAGGCAGG	0.652																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.e15+1		dynein, axonemal, heavy chain 1							22.0	27.0	25.0					3																	52384124		2100	4221	6321	SO:0001630	splice_region_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52384124G>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.2646+1G>T	3.37:g.52384124G>T							p.E882_splice	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	15	2907	+			882			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Splice_Site	SNP	ENST00000420323.2	37	c.2646_splice	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791451	0.50102	.	.	ENSG00000114841	ENST00000420323	T	0.25085	1.82	5.34	5.34	0.76211	.	0.129559	0.34411	N	0.003982	T	0.26557	0.0649	L	0.47078	1.49	0.80722	D	1	B;B	0.18610	0.001;0.029	B;B	0.22152	0.002;0.038	T	0.06499	-1.0823	10	0.16896	T	0.51	.	19.0383	0.92987	0.0:0.0:1.0:0.0	.	882;882	C9JXH6;Q9P2D7-3	.;.	D	882	ENSP00000401514:E882D	ENSP00000401514:E882D	E	+	3	2	DNAH1	52359164	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	5.402000	0.66332	2.497000	0.84241	0.655000	0.94253	GAG		0.652	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	Missense_Mutation	11	7	1	0	6.40141e-05	1	6.75564e-05	11	7				
ZBTB39	9880	broad.mit.edu	37	12	57397198	57397198	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:57397198G>A	ENST00000300101.2	-	2	1589	c.1504C>T	c.(1504-1506)Cat>Tat	p.H502Y		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						ATGCCGAGATGGGACAGCGTG	0.547																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(1504-1506)Cat>Tat		zinc finger and BTB domain containing 39							62.0	52.0	55.0					12																	57397198		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57397198G>A	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1504C>T	12.37:g.57397198G>A	ENSP00000300101:p.His502Tyr						p.H502Y	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	1589	-			502					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.1504C>T	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934121	0.73442	.	.	ENSG00000166860	ENST00000300101	T	0.28895	1.59	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	M	0.82433	2.59	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.65088	-0.6253	10	0.87932	D	0	-12.1213	17.3416	0.87298	0.0:0.0:1.0:0.0	.	502	O15060	ZBT39_HUMAN	Y	502	ENSP00000300101:H502Y	ENSP00000300101:H502Y	H	-	1	0	ZBTB39	55683465	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.567000	0.98161	2.698000	0.92095	0.655000	0.94253	CAT		0.547	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		13	31	0	0	0	1	0	13	31				
TRAPPC12	51112	broad.mit.edu	37	2	3392051	3392051	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:3392051G>T	ENST00000324266.5	+	2	852	c.657G>T	c.(655-657)ttG>ttT	p.L219F	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L219F	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	219					vesicle-mediated transport (GO:0016192)												GCCACTCCTTGGCCTCGGACT	0.706																																						ENST00000324266.5																			0											c.(655-657)ttG>ttT		trafficking protein particle complex 12							38.0	46.0	44.0					2																	3392051		2203	4300	6503	SO:0001583	missense	51112						binding	g.chr2:3392051G>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.657G>T	2.37:g.3392051G>T	ENSP00000324318:p.Leu219Phe					TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L219F	p.L219F	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN			2	852	+			219					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	c.657G>T	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270596	0.40194	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	T;T	0.57907	0.37;0.37	5.23	3.44	0.39384	.	0.331632	0.29653	N	0.011550	T	0.62258	0.2413	L	0.57536	1.79	0.39969	D	0.974768	D;D;D	0.76494	0.981;0.981;0.999	P;P;D	0.68192	0.708;0.708;0.956	T	0.61739	-0.7001	10	0.45353	T	0.12	.	6.9607	0.24595	0.2827:0.0:0.7173:0.0	.	202;219;219	E7ENL7;Q8WVT3;Q53S18	.;TPC12_HUMAN;.	F	219;202;219	ENSP00000371544:L219F;ENSP00000324318:L219F	ENSP00000303612:L202F	L	+	3	2	TTC15	3371058	0.982000	0.34865	0.944000	0.38274	0.131000	0.20780	0.856000	0.27818	0.892000	0.36259	-0.140000	0.14226	TTG		0.706	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		23	28	1	0	9.39395e-14	1	1.05831e-13	23	28				
DHX34	9704	broad.mit.edu	37	19	47861358	47861358	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:47861358C>T	ENST00000328771.4	+	4	1602	c.1253C>T	c.(1252-1254)tCt>tTt	p.S418F	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	418	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGCGCCCTGTCTGTGGCCGAC	0.657																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1252-1254)tCt>tTt		DEAH (Asp-Glu-Ala-His) box polypeptide 34							26.0	25.0	25.0					19																	47861358		2203	4298	6501	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47861358C>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1253C>T	19.37:g.47861358C>T	ENSP00000331907:p.Ser418Phe					DHX34_ENST00000471451.1_3'UTR	p.S418F	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	4	1602	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	418			Helicase C-terminal.		B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.1253C>T	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834409	0.71373	.	.	ENSG00000134815	ENST00000328771	T	0.77229	-1.08	5.15	5.15	0.70609	Helicase, C-terminal (3);	0.000000	0.53938	D	0.000044	D	0.91905	0.7437	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.94278	0.7517	10	0.66056	D	0.02	-18.9011	17.3613	0.87351	0.0:1.0:0.0:0.0	.	418	Q14147	DHX34_HUMAN	F	418	ENSP00000331907:S418F	ENSP00000331907:S418F	S	+	2	0	DHX34	52553196	1.000000	0.71417	0.989000	0.46669	0.524000	0.34500	7.398000	0.79919	2.381000	0.81170	0.455000	0.32223	TCT		0.657	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		4	32	0	0	0	1	0	4	32				
CDH11	1009	broad.mit.edu	37	16	65026924	65026924	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr16:65026924G>C	ENST00000268603.4	-	5	1152	c.537C>G	c.(535-537)atC>atG	p.I179M	CDH11_ENST00000566827.1_Missense_Mutation_p.I53M|CDH11_ENST00000394156.3_Missense_Mutation_p.I179M	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGTCACCTGGATTACTGACG	0.368			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(535-537)atC>atG		cadherin 11, type 2, OB-cadherin (osteoblast)							151.0	131.0	138.0					16																	65026924		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65026924G>C	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.537C>G	16.37:g.65026924G>C	ENSP00000268603:p.Ile179Met	TSP Lung(24;0.17)				CDH11_ENST00000268603.4_Missense_Mutation_p.I179M|CDH11_ENST00000566827.1_Missense_Mutation_p.I53M	p.I179M			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	5	990	-		Ovarian(137;0.0973)	179			Cadherin 2.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.537C>G	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809441	0.50421	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.51817	0.69;0.69	5.92	-0.511	0.11970	Cadherin (4);Cadherin-like (1);	0.162312	0.51477	D	0.000089	T	0.37544	0.1007	N	0.10629	0.01	0.45378	D	0.998367	P;P	0.47484	0.896;0.866	P;P	0.58780	0.563;0.845	T	0.12041	-1.0563	10	0.33141	T	0.24	.	9.6506	0.39895	0.6118:0.0:0.3882:0.0	.	179;179	P55287-2;P55287	.;CAD11_HUMAN	M	179;179;162	ENSP00000268603:I179M;ENSP00000377711:I179M	ENSP00000268603:I179M	I	-	3	3	CDH11	63584425	0.962000	0.33011	0.842000	0.33263	0.963000	0.63663	0.149000	0.16243	-0.068000	0.12953	-0.259000	0.10710	ATC		0.368	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		8	31	0	0	0	1	0	8	31				
LRRC7	57554	broad.mit.edu	37	1	70541831	70541831	+	Silent	SNP	T	T	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:70541831T>C	ENST00000035383.5	+	22	4218	c.4188T>C	c.(4186-4188)taT>taC	p.Y1396Y	LRRC7_ENST00000310961.5_Silent_p.Y1354Y|LRRC7_ENST00000415775.2_Silent_p.Y680Y	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1396						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGCAGCCGTATGAAGGAAATA	0.542																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(4060-4062)taT>taC		leucine rich repeat containing 7							78.0	73.0	75.0					1																	70541831		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70541831T>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4188T>C	1.37:g.70541831T>C						LRRC7_ENST00000415775.2_Silent_p.Y680Y|LRRC7_ENST00000035383.5_Silent_p.Y1396Y	p.Y1354Y			Q96NW7	LRRC7_HUMAN			24	4480	+			1396					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.4062T>C	CCDS645.1																																																																																				0.542	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		36	9	0	0	0	1	0	36	9				
BROX	148362	broad.mit.edu	37	1	222892303	222892303	+	Silent	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:222892303G>A	ENST00000340934.5	+	3	544	c.138G>A	c.(136-138)ctG>ctA	p.L46L	BROX_ENST00000539697.1_Silent_p.L46L|BROX_ENST00000537020.1_Silent_p.L46L	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	46						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						TCCTTGAACTGTTCACTGATT	0.358																																						ENST00000340934.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(136-138)ctG>ctA		BRO1 domain and CAAX motif containing							156.0	147.0	150.0					1																	222892303		2203	4300	6503	SO:0001819	synonymous_variant	148362					membrane		g.chr1:222892303G>A		CCDS1534.1, CCDS73036.1, CCDS73037.1	1q41	2010-11-30	2010-11-30	2010-11-30	ENSG00000162819	ENSG00000162819			26512	protein-coding gene	gene with protein product	"""BRO1 domain containing protein"""		"""chromosome 1 open reading frame 58"""	C1orf58		18190528	Standard	XM_005273065		Approved	FLJ32421	uc001hnq.1	Q5VW32	OTTHUMG00000037650	ENST00000340934.5:c.138G>A	1.37:g.222892303G>A						BROX_ENST00000539697.1_Silent_p.L46L|BROX_ENST00000537020.1_Silent_p.L46L	p.L46L	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN			3	544	+			46					B7Z9G5|Q96MG1	Silent	SNP	ENST00000340934.5	37	c.138G>A	CCDS1534.1																																																																																				0.358	BROX-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091815.2	NM_144695		27	58	0	0	0	1	0	27	58				
RAB5A	5868	broad.mit.edu	37	3	20017551	20017551	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:20017551A>T	ENST00000273047.4	+	4	864	c.328A>T	c.(328-330)Aga>Tga	p.R110*	RAB5A_ENST00000422242.1_Nonsense_Mutation_p.R96*	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	110					blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|nervous system development (GO:0007399)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of endosome size (GO:0051036)|regulation of filopodium assembly (GO:0051489)|regulation of synaptic vesicle exocytosis (GO:2000300)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoplasmic side of early endosome membrane (GO:0098559)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|somatodendritic compartment (GO:0036477)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)|urinary_tract(1)	2						GTCCTTTGCAAGAGCAAAAAA	0.403																																						ENST00000273047.4																			0				lung(1)|urinary_tract(1)	2						c.(328-330)Aga>Tga		RAB5A, member RAS oncogene family							59.0	57.0	58.0					3																	20017551		2203	4300	6503	SO:0001587	stop_gained	5868				blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr3:20017551A>T		CCDS2633.1	3p24-p22	2008-07-18			ENSG00000144566	ENSG00000144566		"""RAB, member RAS oncogene"""	9783	protein-coding gene	gene with protein product	"""RAS-associated protein RAB5A"""	179512		RAB5		1999336	Standard	NM_004162		Approved		uc003cbn.3	P20339	OTTHUMG00000129889	ENST00000273047.4:c.328A>T	3.37:g.20017551A>T	ENSP00000273047:p.Arg110*					RAB5A_ENST00000422242.1_Nonsense_Mutation_p.R96*	p.R110*	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN			4	864	+			110					B4DJA5|Q6FI44	Nonsense_Mutation	SNP	ENST00000273047.4	37	c.328A>T	CCDS2633.1	.	.	.	.	.	.	.	.	.	.	A	37	6.206817	0.97376	.	.	ENSG00000144566	ENST00000273047;ENST00000422242	.	.	.	5.02	3.82	0.43975	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.7677	11.9626	0.53017	0.8547:0.1453:0.0:0.0	.	.	.	.	X	110;96	.	.	R	+	1	2	RAB5A	19992555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.250000	0.58772	0.819000	0.34492	0.460000	0.39030	AGA		0.403	RAB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252137.2	NM_004162		12	45	0	0	0	1	0	12	45				
MIR17HG	407975	broad.mit.edu	37	13	92003611	92003611	+	RNA	SNP	A	A	G	rs374040259		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:92003611A>G	ENST00000362310.2	+	0	184				MIR17HG_ENST00000384878.1_RNA|MIR17HG_ENST00000385233.2_RNA|MIR17HG_ENST00000384829.1_RNA|MIR17HG_ENST00000385012.1_RNA|MIR17HG_ENST00000362279.1_RNA	NR_029488.1		Q75NE6	MIRH1_HUMAN	miR-17-92 cluster host gene (non-protein coding)							integral component of membrane (GO:0016021)											GTGTTTCTGTATGGTATTGCA	0.408																																						ENST00000385233.2																			0															A		0,3136		0,0,1568	217.0	175.0	188.0			-0.3	1.0	13		188	3,7161		0,3,3579	no	intergenic				0,3,5147	GG,GA,AA		0.0419,0.0,0.0291			92003611	3,10297	1568	3582	5150			407975							g.chr13:92003611A>G	AB176707		13q31.3	2014-07-18	2011-02-14	2009-07-24	ENSG00000215417	ENSG00000215417		"""-"""	23564	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 48"", ""long intergenic non-protein coding RNA 48"""	609415	"""chromosome 13 open reading frame 25"", ""microRNA host gene 1 (non-protein coding)"", ""MIR17 host gene (non-protein coding)"""	C13orf25, MIRHG1		15126345, 15944707, 16266980, 17210683, 23551855	Standard	NR_027349		Approved	FLJ14178, MIRH1, MIHG1, NCRNA00048, miR-17-92, LINC00048	uc010tie.1	Q75NE6	OTTHUMG00000017195		13.37:g.92003611A>G								NR_029508.1						0	44	+								A4QMU7|Q75NE7	RNA	SNP	ENST00000362310.2	37																																																																																						0.408	MIR17HG-202	KNOWN	basic	miRNA	processed_transcript		NR_027349		90	17	0	0	0	1	0	90	17				
ZNF415	55786	broad.mit.edu	37	19	53612343	53612343	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:53612343G>C	ENST00000500065.4	-	4	1288	c.955C>G	c.(955-957)Cag>Gag	p.Q319E	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.Q319E|ZNF415_ENST00000440291.1_Missense_Mutation_p.Q306E|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000455735.2_Missense_Mutation_p.Q367E|ZNF415_ENST00000421033.1_Missense_Mutation_p.Q331E|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.Q89E|ZNF415_ENST00000448501.1_Missense_Mutation_p.Q367E	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGAGTTTTCTGATGTAGTGCA	0.418																																						ENST00000455735.2																			0				breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1099-1101)Cag>Gag		zinc finger protein 415							88.0	82.0	84.0					19																	53612343		2203	4300	6503	SO:0001583	missense	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612343G>C	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.955C>G	19.37:g.53612343G>C	ENSP00000439435:p.Gln319Glu					ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000500065.4_Missense_Mutation_p.Q319E|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.Q331E|ZNF415_ENST00000243643.4_Missense_Mutation_p.Q319E|ZNF415_ENST00000440291.1_Missense_Mutation_p.Q306E|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.Q89E|ZNF415_ENST00000448501.1_Missense_Mutation_p.Q367E	p.Q367E			Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1419	-			367					F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	c.1099C>G	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	G	6.835	0.523352	0.13066	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	2.78	1.72	0.24424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12732	0.0309	N	0.10733	0.035	0.09310	N	1	B;P;B;P;B;B	0.46912	0.012;0.71;0.005;0.886;0.002;0.3	B;B;B;P;B;B	0.54270	0.001;0.288;0.002;0.747;0.001;0.026	T	0.11518	-1.0584	9	0.59425	D	0.04	.	1.7403	0.02951	0.128:0.2015:0.4648:0.2056	.	319;367;367;319;306;331	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	E	319;319;367;331;367;306	ENSP00000243643:Q319E;ENSP00000439435:Q319E;ENSP00000396492:Q367E;ENSP00000395055:Q331E;ENSP00000388787:Q367E;ENSP00000414601:Q306E	ENSP00000243643:Q319E	Q	-	1	0	ZNF415	58304155	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-2.047000	0.01408	0.513000	0.28278	0.491000	0.48974	CAG		0.418	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		17	46	0	0	0	1	0	17	46				
POTEA	340441	broad.mit.edu	37	8	43147662	43147662	+	RNA	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:43147662C>T	ENST00000522175.2	+	0	37							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGGCTGCCTCCCCTATGAAG	0.562																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A							42.0	44.0	43.0					8																	43147662		2187	4290	6477			340441							g.chr8:43147662C>T	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43147662C>T										Q6S8J7	POTEA_HUMAN			0	37	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.562	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		13	38	0	0	0	1	0	13	38				
ZIC5	85416	broad.mit.edu	37	13	100617831	100617831	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:100617831G>A	ENST00000267294.4	-	2	2025	c.1792C>T	c.(1792-1794)Ccc>Tcc	p.P598S		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	598					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGGACAAGGGGGCGCCCACT	0.612																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1792-1794)Ccc>Tcc		Zic family member 5							81.0	86.0	84.0					13																	100617831		2203	4300	6503	SO:0001583	missense	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100617831G>A	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1792C>T	13.37:g.100617831G>A	ENSP00000267294:p.Pro598Ser						p.P598S	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			2	2025	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		598					Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	c.1792C>T	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007879	0.35415	.	.	ENSG00000139800	ENST00000267294	T	0.12569	2.67	6.06	5.21	0.72293	.	.	.	.	.	T	0.10165	0.0249	L	0.49126	1.545	0.40762	D	0.983011	P	0.34864	0.473	B	0.28553	0.091	T	0.06267	-1.0836	9	0.07325	T	0.83	.	9.1668	0.37056	0.0732:0.0:0.7797:0.147	.	598	Q96T25	ZIC5_HUMAN	S	598	ENSP00000267294:P598S	ENSP00000267294:P598S	P	-	1	0	ZIC5	99415832	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.275000	0.43399	1.540000	0.49301	0.655000	0.94253	CCC		0.612	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		17	53	0	0	0	1	0	17	53				
BIRC8	112401	broad.mit.edu	37	19	53793208	53793208	+	Silent	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:53793208C>T	ENST00000426466.1	-	1	1667	c.420G>A	c.(418-420)ggG>ggA	p.G140G		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	140					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TATAGTTGCTCCCAGATGTTT	0.378																																						ENST00000426466.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19						c.(418-420)ggG>ggA		baculoviral IAP repeat containing 8							131.0	134.0	133.0					19																	53793208		2203	4300	6503	SO:0001819	synonymous_variant	112401				apoptosis		zinc ion binding	g.chr19:53793208C>T	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.420G>A	19.37:g.53793208C>T							p.G140G	NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	1	1667	-			140					Q6IPY1|Q96RW5	Silent	SNP	ENST00000426466.1	37	c.420G>A	CCDS12863.1																																																																																				0.378	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		15	86	0	0	0	1	0	15	86				
BSCL2	26580	broad.mit.edu	37	11	62459902	62459902	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:62459902C>T	ENST00000403550.1	-	6	1040	c.617G>A	c.(616-618)cGc>cAc	p.R206H	LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000421906.1_Missense_Mutation_p.R206H|BSCL2_ENST00000407022.3_Missense_Mutation_p.R206H|BSCL2_ENST00000278893.7_Missense_Mutation_p.R206H|BSCL2_ENST00000537604.1_5'Flank|BSCL2_ENST00000405837.1_Missense_Mutation_p.R270H|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.R270H|BSCL2_ENST00000433053.1_Missense_Mutation_p.R270H			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	206					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CAGCTGGATGCGCTTGCTGTG	0.627																																						ENST00000433053.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						c.(808-810)cGc>cAc		Berardinelli-Seip congenital lipodystrophy 2 (seipin)							107.0	85.0	92.0					11																	62459902		2202	4299	6501	SO:0001583	missense	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62459902C>T		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.617G>A	11.37:g.62459902C>T	ENSP00000385561:p.Arg206His					BSCL2_ENST00000360796.5_Missense_Mutation_p.R270H|BSCL2_ENST00000278893.7_Missense_Mutation_p.R206H|BSCL2_ENST00000421906.1_Missense_Mutation_p.R206H|BSCL2_ENST00000407022.3_Missense_Mutation_p.R206H|BSCL2_ENST00000403550.1_Missense_Mutation_p.R206H|BSCL2_ENST00000405837.1_Missense_Mutation_p.R270H|RP11-831H9.16_ENST00000403734.2_3'UTR	p.R270H			Q96G97	BSCL2_HUMAN			7	1365	-			206					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	37	c.809G>A	CCDS8031.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128750	0.77549	.	.	ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000278893;ENST00000360796;ENST00000403098;ENST00000403550;ENST00000407022;ENST00000421906;ENST00000448568	D;D;D;D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	5.53	4.62	0.57501	.	0.076453	0.48286	U	0.000186	D	0.89097	0.6618	L	0.46614	1.455	0.42268	D	0.992046	P;D;D;D	0.60160	0.843;0.977;0.971;0.987	B;P;P;P	0.53593	0.148;0.64;0.507;0.73	D	0.88542	0.3110	10	0.45353	T	0.12	-1.5361	12.0655	0.53586	0.0:0.9165:0.0:0.0835	.	206;206;270;206	Q96G97-3;Q53EN3;G3XAE4;Q96G97	.;.;.;BSCL2_HUMAN	H	270;270;206;270;44;206;206;206;206	ENSP00000385332:R270H;ENSP00000414002:R270H;ENSP00000278893:R206H;ENSP00000354032:R270H;ENSP00000384258:R44H;ENSP00000385561:R206H;ENSP00000384080:R206H;ENSP00000413209:R206H;ENSP00000413340:R206H	ENSP00000278893:R206H	R	-	2	0	BSCL2	62216478	0.569000	0.26643	0.944000	0.38274	0.976000	0.68499	2.197000	0.42696	1.340000	0.45581	0.561000	0.74099	CGC		0.627	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		3	41	0	0	0	1	0	3	41				
REXO2	25996	broad.mit.edu	37	11	114311377	114311377	+	Splice_Site	SNP	G	G	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:114311377G>C	ENST00000265881.5	+	2	290		c.e2-1		RP11-212D19.4_ENST00000544347.1_Splice_Site|REXO2_ENST00000539754.1_Splice_Site|REXO2_ENST00000539275.1_Splice_Site|REXO2_ENST00000544196.1_Splice_Site	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2						nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		TTTAATTGCAGATGACAGGAT	0.383																																						ENST00000265881.5																			0				cervix(1)|endometrium(1)|kidney(1)|lung(1)	4						c.e2-1		RNA exonuclease 2							130.0	120.0	123.0					11																	114311377		2201	4296	6497	SO:0001630	splice_region_variant	25996				nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding	g.chr11:114311377G>C	AF151872	CCDS8371.1	11q23.2	2013-06-10	2013-06-10		ENSG00000076043	ENSG00000076043			17851	protein-coding gene	gene with protein product		607149	"""REX2, RNA exonuclease 2 homolog (S. cerevisiae)"""			10851236, 10810093, 23741365	Standard	NM_015523		Approved	DKFZP566E144, SFN, CGI-114	uc001poy.3	Q9Y3B8	OTTHUMG00000168271	ENST00000265881.5:c.148-1G>C	11.37:g.114311377G>C						RP11-212D19.4_ENST00000544347.1_Splice_Site|REXO2_ENST00000539754.1_Splice_Site|REXO2_ENST00000539275.1_Splice_Site|REXO2_ENST00000544196.1_Splice_Site		NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)	2	290	+		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)						B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Splice_Site	SNP	ENST00000265881.5	37		CCDS8371.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860921	0.71834	.	.	ENSG00000076043	ENST00000265881;ENST00000544196;ENST00000539754;ENST00000539275;ENST00000544827	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0254	0.89268	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	REXO2	113816587	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.969000	0.93411	2.491000	0.84063	0.305000	0.20034	.		0.383	REXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399087.1	NM_015523	Intron	18	43	0	0	0	1	0	18	43				
LDOC1	23641	broad.mit.edu	37	X	140271069	140271069	+	Silent	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:140271069C>T	ENST00000370526.2	-	1	241	c.138G>A	c.(136-138)ccG>ccA	p.P46P	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	46					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					GGCAGCTCGGCGGACGTACCT	0.642																																						ENST00000370526.2																			0				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14						c.(136-138)ccG>ccA		leucine zipper, down-regulated in cancer 1							31.0	28.0	29.0					X																	140271069		2203	4300	6503	SO:0001819	synonymous_variant	23641				negative regulation of cell proliferation	nucleus	protein binding	g.chrX:140271069C>T	AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.138G>A	X.37:g.140271069C>T						LDOC1_ENST00000460721.1_Intron	p.P46P	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN			1	241	-	Acute lymphoblastic leukemia(192;7.65e-05)		46					Q6IAR6	Silent	SNP	ENST00000370526.2	37	c.138G>A	CCDS14672.1																																																																																				0.642	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058592.1	NM_012317		23	5	0	0	0	1	0	23	5				
LRRC4C	57689	broad.mit.edu	37	11	40137329	40137329	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:40137329G>C	ENST00000278198.2	-	2	2477	c.514C>G	c.(514-516)Cct>Gct	p.P172A	LRRC4C_ENST00000527150.1_Missense_Mutation_p.P172A|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P172A|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P172A			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	172					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CGCAAAGAAGGAATTCTGTTA	0.428																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(514-516)Cct>Gct		leucine rich repeat containing 4C							92.0	92.0	92.0					11																	40137329		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137329G>C	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.514C>G	11.37:g.40137329G>C	ENSP00000278198:p.Pro172Ala					LRRC4C_ENST00000527150.1_Missense_Mutation_p.P172A|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P172A|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P172A	p.P172A			Q9HCJ2	LRC4C_HUMAN			2	2477	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	172					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.514C>G	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048414	0.36181	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76	5.82	5.82	0.92795	.	0.052648	0.85682	D	0.000000	D	0.89132	0.6628	L	0.58510	1.815	0.58432	D	0.999996	B	0.33044	0.395	B	0.33960	0.173	D	0.86037	0.1517	10	0.20046	T	0.44	.	19.0894	0.93221	0.0:0.0:1.0:0.0	.	172	Q9HCJ2	LRC4C_HUMAN	A	172	ENSP00000278198:P172A;ENSP00000436976:P172A;ENSP00000437132:P172A;ENSP00000434761:P172A	ENSP00000278198:P172A	P	-	1	0	LRRC4C	40093905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.867000	0.87062	2.754000	0.94517	0.650000	0.86243	CCT		0.428	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		19	49	0	0	0	1	0	19	49				
HS1BP3	64342	broad.mit.edu	37	2	20840568	20840568	+	Intron	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:20840568C>T	ENST00000304031.3	-	3	432				HS1BP3_ENST00000406618.3_Missense_Mutation_p.A191T|HS1BP3_ENST00000402541.1_Intron	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3								phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCCTTCTGCCCACCATCCA	0.627																																						ENST00000406618.3																			0				endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15						c.(571-573)Gca>Aca		HCLS1 binding protein 3																																				SO:0001627	intron_variant	64342				cell communication		phosphatidylinositol binding	g.chr2:20840568C>T		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.406+164G>A	2.37:g.20840568C>T						HS1BP3_ENST00000304031.3_Intron|HS1BP3_ENST00000402541.1_Intron	p.A191T			Q53T59	H1BP3_HUMAN			3	591	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		0					B2RAW2|D6W529|Q86VC2|Q8N367	Missense_Mutation	SNP	ENST00000304031.3	37	c.571G>A	CCDS1700.1	.	.	.	.	.	.	.	.	.	.	C	9.939	1.216836	0.22373	.	.	ENSG00000118960	ENST00000406618	.	.	.	3.48	1.46	0.22682	.	.	.	.	.	T	0.22437	0.0541	.	.	.	0.09310	N	1	B	0.30482	0.281	B	0.19946	0.027	T	0.21042	-1.0257	7	0.87932	D	0	.	4.3338	0.11076	0.0:0.6302:0.2361:0.1338	.	191	B5MC96	.	T	191	.	ENSP00000385788:A191T	A	-	1	0	HS1BP3	20704049	0.005000	0.15991	0.001000	0.08648	0.098000	0.18820	0.868000	0.27982	0.781000	0.33589	0.561000	0.74099	GCA		0.627	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		9	12	0	0	0	1	0	9	12				
EHMT1	79813	broad.mit.edu	37	9	140637884	140637884	+	Silent	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:140637884C>T	ENST00000460843.1	+	5	912	c.885C>T	c.(883-885)acC>acT	p.T295T	EHMT1_ENST00000462484.1_Silent_p.T295T|EHMT1_ENST00000334856.6_Silent_p.T264T|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	295					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GAATGGGAACCTATAGCCTGG	0.383																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(883-885)acC>acT		euchromatic histone-lysine N-methyltransferase 1							77.0	74.0	75.0					9																	140637884		2203	4300	6503	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140637884C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.885C>T	9.37:g.140637884C>T						EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.T264T|EHMT1_ENST00000462484.1_Silent_p.T295T	p.T295T	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	5	912	+	all_cancers(76;0.164)		295					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.885C>T	CCDS7050.2																																																																																				0.383	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		18	41	0	0	0	1	0	18	41				
SPTLC2	9517	broad.mit.edu	37	14	78028801	78028801	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:78028801T>C	ENST00000216484.2	-	6	981	c.788A>G	c.(787-789)cAt>cGt	p.H263R		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	263					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	CAGTGATGCATGATTCAGTTC	0.443																																						ENST00000216484.2																			0				kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19						c.(787-789)cAt>cGt		serine palmitoyltransferase, long chain base subunit 2	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						113.0	96.0	102.0					14																	78028801		2203	4300	6503	SO:0001583	missense	9517					integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr14:78028801T>C	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.788A>G	14.37:g.78028801T>C	ENSP00000216484:p.His263Arg						p.H263R	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	6	981	-			263					Q16685	Missense_Mutation	SNP	ENST00000216484.2	37	c.788A>G	CCDS9865.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.242737	0.79912	.	.	ENSG00000100596	ENST00000216484	D	0.98120	-4.73	5.73	5.73	0.89815	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99489	0.9818	H	0.99951	5.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97598	1.0121	10	0.87932	D	0	-20.4272	16.3265	0.82983	0.0:0.0:0.0:1.0	.	263	O15270	SPTC2_HUMAN	R	263	ENSP00000216484:H263R	ENSP00000216484:H263R	H	-	2	0	SPTLC2	77098554	1.000000	0.71417	0.988000	0.46212	0.673000	0.39480	7.767000	0.85331	2.313000	0.78055	0.455000	0.32223	CAT		0.443	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		19	43	0	0	0	1	0	19	43				
ATG9B	285973	broad.mit.edu	37	7	150713811	150713811	+	Silent	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:150713811G>A	ENST00000377974.2	-	11	2460	c.2385C>T	c.(2383-2385)ctC>ctT	p.L795L	ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000444312.1_Silent_p.L281L|ATG9B_ENST00000494791.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	796					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGAGGCAAGGAGGCTGGCTG	0.652																																						ENST00000377974.2																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14						c.(2383-2385)ctC>ctT		autophagy related 9B							23.0	27.0	26.0					7																	150713811		1982	4159	6141	SO:0001819	synonymous_variant	285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150713811G>A	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.2385C>T	7.37:g.150713811G>A						ATG9B_ENST00000444312.1_Silent_p.L281L|ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR	p.L795L			Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	11	2460	-	all_neural(206;0.219)		796					A1A5D3|Q6JRW5|Q8N8I8	Silent	SNP	ENST00000377974.2	37	c.2385C>T																																																																																					0.652	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		7	25	0	0	0	1	0	7	25				
MADD	8567	broad.mit.edu	37	11	47346191	47346191	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:47346191A>C	ENST00000405573.2	+	13	1428	c.1215A>C	c.(1213-1215)caA>caC	p.Q405H	MADD_ENST00000395336.3_Intron|MADD_ENST00000395344.3_Intron|MADD_ENST00000402799.1_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000407859.3_Intron|MADD_ENST00000349238.3_Intron|MADD_ENST00000311027.5_Intron|MADD_ENST00000406482.1_Intron					MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCAATGTCCAAGCCCCCAGTA	0.582																																						ENST00000405573.2																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(1213-1215)caA>caC		MAP-kinase activating death domain																																				SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47346191A>C	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000405573.2:c.1215A>C	11.37:g.47346191A>C	ENSP00000384483:p.Gln405His					MADD_ENST00000406482.1_Intron|MADD_ENST00000407859.3_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000311027.5_Intron|MADD_ENST00000402799.1_Intron|MADD_ENST00000349238.3_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000395344.3_Intron|MADD_ENST00000395336.3_Intron	p.Q405H			Q8WXG6	MADD_HUMAN		Lung(87;0.182)	13	1428	+			0						Missense_Mutation	SNP	ENST00000405573.2	37	c.1215A>C		.	.	.	.	.	.	.	.	.	.	G	12.45	1.942422	0.34283	.	.	ENSG00000110514	ENST00000405573	T	0.47869	0.83	4.9	3.99	0.46301	.	.	.	.	.	T	0.35128	0.0921	.	.	.	0.09310	N	1	B	0.31351	0.32	B	0.34138	0.176	T	0.21348	-1.0248	7	.	.	.	.	7.9557	0.30040	0.1912:0.0:0.8088:0.0	.	405	F8W8U2	.	H	405	ENSP00000384483:Q405H	.	Q	+	3	2	MADD	47302767	0.037000	0.19845	0.273000	0.24645	0.025000	0.11179	1.195000	0.32186	0.616000	0.30141	-0.338000	0.08134	CAA		0.582	MADD-018	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000391722.1			5	4	0	0	0	1	0	5	4				
CASD1	64921	broad.mit.edu	37	7	94176486	94176486	+	Splice_Site	SNP	A	A	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:94176486A>T	ENST00000297273.4	+	13	1999	c.1712A>T	c.(1711-1713)cAg>cTg	p.Q571L		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	571						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GCATATTCTCAGGTTTGTACA	0.279																																						ENST00000297273.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31						c.e13+1		CAS1 domain containing 1							100.0	98.0	98.0					7																	94176486		2202	4298	6500	SO:0001630	splice_region_variant	64921					integral to membrane		g.chr7:94176486A>T	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1713+1A>T	7.37:g.94176486A>T							p.Q571_splice	NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		13	1999	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		571					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Splice_Site	SNP	ENST00000297273.4	37	c.1713_splice	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.074801	0.76415	.	.	ENSG00000127995	ENST00000297273	T	0.47177	0.85	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.65080	0.2657	L	0.56769	1.78	0.58432	D	0.999999	D;D	0.59357	0.985;0.985	D;D	0.74023	0.982;0.982	T	0.68515	-0.5388	10	0.87932	D	0	.	15.2858	0.73828	1.0:0.0:0.0:0.0	.	571;571	Q8WZ77;Q96PB1	.;CASD1_HUMAN	L	571	ENSP00000297273:Q571L	ENSP00000297273:Q571L	Q	+	2	0	CASD1	94014422	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.309000	0.65774	2.083000	0.62718	0.454000	0.30748	CAG		0.279	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900	Missense_Mutation	16	20	0	0	0	1	0	16	20				
GPR151	134391	broad.mit.edu	37	5	145895575	145895575	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:145895575G>T	ENST00000311104.2	-	1	178	c.102C>A	c.(100-102)gaC>gaA	p.D34E		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTTCTCCAGTCCTGGGAAT	0.557																																					Pancreas(78;420 1386 18535 37114 49710)	ENST00000311104.2																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14						c.(100-102)gaC>gaA		G protein-coupled receptor 151							107.0	112.0	110.0					5																	145895575		2203	4300	6503	SO:0001583	missense	134391					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:145895575G>T	AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.102C>A	5.37:g.145895575G>T	ENSP00000308733:p.Asp34Glu						p.D34E	NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	178	-			34					Q86SN8|Q8NGV2	Missense_Mutation	SNP	ENST00000311104.2	37	c.102C>A	CCDS34266.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582147	0.28180	.	.	ENSG00000173250	ENST00000311104	T	0.34859	1.34	5.9	4.98	0.66077	.	0.120654	0.56097	D	0.000037	T	0.23846	0.0577	L	0.33485	1.01	0.40161	D	0.977067	B	0.15141	0.012	B	0.08055	0.003	T	0.05649	-1.0872	10	0.02654	T	1	.	13.3097	0.60374	0.0:0.3068:0.6932:0.0	.	34	Q8TDV0	GP151_HUMAN	E	34	ENSP00000308733:D34E	ENSP00000308733:D34E	D	-	3	2	GPR151	145875768	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.734000	0.47368	2.793000	0.96121	0.591000	0.81541	GAC		0.557	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	NM_194251		43	48	1	0	1.00776e-21	1	1.16987e-21	43	48				
GPC5	2262	broad.mit.edu	37	13	93518618	93518618	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:93518618G>A	ENST00000377067.3	+	8	2017	c.1645G>A	c.(1645-1647)Gga>Aga	p.G549R		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	549					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AACAGGAGCAGGATGTGCAGT	0.438																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1645-1647)Gga>Aga		glypican 5							341.0	257.0	286.0					13																	93518618		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:93518618G>A	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1645G>A	13.37:g.93518618G>A	ENSP00000366267:p.Gly549Arg						p.G549R	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			8	2017	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	549					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1645G>A	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416549	0.42918	.	.	ENSG00000179399	ENST00000377067	T	0.50277	0.75	5.81	4.97	0.65823	.	0.177642	0.26598	N	0.023492	T	0.56848	0.2013	L	0.47716	1.5	0.29791	N	0.833202	D	0.56968	0.978	P	0.59825	0.864	T	0.59418	-0.7458	10	0.72032	D	0.01	-6.5237	12.079	0.53659	0.0788:0.0:0.9212:0.0	.	549	P78333	GPC5_HUMAN	R	549	ENSP00000366267:G549R	ENSP00000366267:G549R	G	+	1	0	GPC5	92316619	1.000000	0.71417	0.030000	0.17652	0.087000	0.18053	3.491000	0.53252	1.453000	0.47775	0.650000	0.86243	GGA		0.438	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		59	15	0	0	0	1	0	59	15				
ALX4	60529	broad.mit.edu	37	11	44286580	44286580	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:44286580C>A	ENST00000329255.3	-	4	1163	c.1060G>T	c.(1060-1062)Ggg>Tgg	p.G354W		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	354					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CTGCCAGCCCCAGACACACTC	0.682																																						ENST00000329255.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1060-1062)Ggg>Tgg		ALX homeobox 4							42.0	40.0	41.0					11																	44286580		2203	4298	6501	SO:0001583	missense	60529				hair follicle development			g.chr11:44286580C>A	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.1060G>T	11.37:g.44286580C>A	ENSP00000332744:p.Gly354Trp						p.G354W	NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN			4	1163	-			354					Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	c.1060G>T	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416987	0.62511	.	.	ENSG00000052850	ENST00000329255	D	0.92199	-2.99	5.19	5.19	0.71726	.	0.069508	0.64402	D	0.000006	D	0.91901	0.7436	L	0.38175	1.15	0.35161	D	0.77064	D	0.63880	0.993	P	0.58970	0.849	D	0.94058	0.7324	10	0.72032	D	0.01	.	10.7316	0.46100	0.0:0.8517:0.0:0.1483	.	354	Q9H161	ALX4_HUMAN	W	354	ENSP00000332744:G354W	ENSP00000332744:G354W	G	-	1	0	ALX4	44243156	0.993000	0.37304	0.990000	0.47175	0.995000	0.86356	2.819000	0.48049	2.575000	0.86900	0.561000	0.74099	GGG		0.682	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			14	36	1	0	2.32078e-09	1	2.57116e-09	14	36				
RBPMS	11030	broad.mit.edu	37	8	30332300	30332300	+	Silent	SNP	G	G	C	rs368733156		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:30332300G>C	ENST00000320203.4	+	2	654	c.72G>C	c.(70-72)cgG>cgC	p.R24R	RBPMS_ENST00000339877.4_Silent_p.R24R|RBPMS_ENST00000520191.1_5'UTR|RBPMS_ENST00000520161.1_5'UTR|RBPMS_ENST00000287771.5_Silent_p.R24R|RBPMS_ENST00000519647.1_5'UTR|RBPMS_ENST00000397323.4_Silent_p.R24R|RBPMS_ENST00000538486.1_Silent_p.R24R|RBPMS_ENST00000517860.1_Silent_p.R24R	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	24	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.R24R(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		TCCAGGTCCGGACCCTATTTG	0.388																																						ENST00000320203.4																			1	Substitution - coding silent(1)	p.R24R(1)	ovary(1)	autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(70-72)cgG>cgC		RNA binding protein with multiple splicing							169.0	177.0	174.0					8																	30332300		2203	4300	6503	SO:0001819	synonymous_variant	11030				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	g.chr8:30332300G>C	D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"""RNA binding motif (RRM) containing"""	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.72G>C	8.37:g.30332300G>C						RBPMS_ENST00000397323.4_Silent_p.R24R|RBPMS_ENST00000519647.1_5'UTR|RBPMS_ENST00000517860.1_Silent_p.R24R|RBPMS_ENST00000339877.4_Silent_p.R24R|RBPMS_ENST00000287771.5_Silent_p.R24R|RBPMS_ENST00000520191.1_5'UTR|RBPMS_ENST00000538486.1_Silent_p.R24R|RBPMS_ENST00000520161.1_5'UTR	p.R24R	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)	2	654	+			24			RRM.		D3DSU9|Q92516|Q92517|Q92518|Q96J26	Silent	SNP	ENST00000320203.4	37	c.72G>C	CCDS6077.1																																																																																				0.388	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376357.2			58	34	0	0	0	1	0	58	34				
SRM	6723	broad.mit.edu	37	1	11119351	11119351	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:11119351C>A	ENST00000376957.2	-	2	299	c.219G>T	c.(217-219)gaG>gaT	p.E73D		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	73	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	ACTCGTCTCTCTCCGTGCACT	0.612																																						ENST00000376957.2																			0				large_intestine(1)|lung(1)|urinary_tract(1)	3						c.(217-219)gaG>gaT		spermidine synthase	S-Adenosylmethionine(DB00118)|Spermine(DB00127)						131.0	114.0	120.0					1																	11119351		2203	4300	6503	SO:0001583	missense	6723				spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity	g.chr1:11119351C>A	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.219G>T	1.37:g.11119351C>A	ENSP00000366156:p.Glu73Asp						p.E73D	NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	2	299	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	73					B1AKP9|Q15511	Missense_Mutation	SNP	ENST00000376957.2	37	c.219G>T	CCDS125.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514369	0.64522	.	.	ENSG00000116649	ENST00000376957	D	0.82619	-1.63	4.3	2.4	0.29515	.	0.000000	0.85682	D	0.000000	T	0.79470	0.4451	M	0.73753	2.245	0.49483	D	0.99979	P	0.44006	0.824	B	0.40165	0.321	T	0.75806	-0.3188	10	0.54805	T	0.06	.	6.815	0.23824	0.1745:0.7293:0.0:0.0963	.	73	P19623	SPEE_HUMAN	D	73	ENSP00000366156:E73D	ENSP00000366156:E73D	E	-	3	2	SRM	11041938	1.000000	0.71417	0.597000	0.28824	0.943000	0.58893	2.271000	0.43364	0.426000	0.26116	0.448000	0.29417	GAG		0.612	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132		16	73	1	0	2.23348e-06	1	2.38536e-06	16	73				
ZNF471	57573	broad.mit.edu	37	19	57036677	57036677	+	Missense_Mutation	SNP	C	C	T	rs372818781		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:57036677C>T	ENST00000308031.5	+	5	1374	c.1241C>T	c.(1240-1242)tCg>tTg	p.S414L	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ACCTTCAGCTCGGGTTCATCC	0.413																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	ENST00000308031.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1240-1242)tCg>tTg		zinc finger protein 471		C	LEU/SER	0,4406		0,0,2203	82.0	81.0	82.0		1241	0.5	0.0	19		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF471	NM_020813.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	414/627	57036677	1,13005	2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57036677C>T	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1241C>T	19.37:g.57036677C>T	ENSP00000309161:p.Ser414Leu					ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	p.S414L	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	1374	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	414					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.1241C>T	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	C	1.528	-0.545072	0.04024	0.0	1.16E-4	ENSG00000196263	ENST00000308031	T	0.06294	3.32	3.2	0.457	0.16661	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03263	0.0095	N	0.25957	0.775	0.09310	N	1	B	0.31026	0.304	B	0.23275	0.045	T	0.46133	-0.9213	9	0.11794	T	0.64	.	3.7585	0.08595	0.56:0.2583:0.1816:0.0	.	414	Q9BX82	ZN471_HUMAN	L	414	ENSP00000309161:S414L	ENSP00000309161:S414L	S	+	2	0	ZNF471	61728489	0.000000	0.05858	0.001000	0.08648	0.947000	0.59692	-3.040000	0.00633	-0.145000	0.11294	0.462000	0.41574	TCG		0.413	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		22	32	0	0	0	1	0	22	32				
HNF1A	6927	broad.mit.edu	37	12	121435468	121435468	+	Missense_Mutation	SNP	G	G	A	rs371807951		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:121435468G>A	ENST00000400024.2	+	7	1702	c.1501G>A	c.(1501-1503)Ggt>Agt	p.G501S	HNF1A_ENST00000538626.1_Missense_Mutation_p.G83S|HNF1A_ENST00000544413.1_Splice_Site_p.A501T|RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000402929.1_3'UTR|HNF1A_ENST00000257555.6_Splice_Site_p.A501T|HNF1A_ENST00000541395.1_Splice_Site_p.A501T			P20823	HNF1A_HUMAN	HNF1 homeobox A	501					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A501T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAGCCCCCACGGTGAGCGCCC	0.627									Hepatic Adenoma, Familial Clustering of																													ENST00000400024.2																			1	Substitution - Missense(1)	p.A501T(1)	endometrium(1)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	GRCh37	CM035682	HNF1A	M		c.(1501-1503)Ggt>Agt		HNF1 homeobox A		G	THR/ALA	0,4404		0,0,2202	20.0	19.0	19.0		1501	4.5	1.0	12		19	1,8597		0,1,4298	no	missense-near-splice	HNF1A	NM_000545.5	58	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	501/632	121435468	1,13001	2202	4299	6501	SO:0001583	missense	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121435468G>A	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000400024.2:c.1501G>A	12.37:g.121435468G>A	ENSP00000476181:p.Gly501Ser					HNF1A_ENST00000538626.1_Missense_Mutation_p.G83S|HNF1A_ENST00000544413.1_Splice_Site_p.A501_splice|HNF1A_ENST00000402929.1_3'UTR|HNF1A_ENST00000541395.1_Splice_Site_p.A501_splice|HNF1A_ENST00000257555.6_Splice_Site_p.A501_splice	p.G501S			P20823	HNF1A_HUMAN			7	1702	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		0					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000400024.2	37	c.1501G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.51|13.51	2.258325|2.258325	0.39896|0.39896	0.0|0.0	1.16E-4|1.16E-4	ENSG00000135100|ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000537424;ENST00000543027;ENST00000541395;ENST00000544413|ENST00000340577	D;D;D|.	0.99194|.	-5.54;-5.52;-5.54|.	4.49|4.49	4.49|4.49	0.54785|0.54785	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);|.	0.000000|.	0.64402|.	D|.	0.000012|.	T|T	0.48314|0.48314	0.1493|0.1493	L|L	0.43152|0.43152	1.355|1.355	0.58432|0.58432	D|D	0.999996|0.999996	P;D|D	0.76494|0.56968	0.772;0.999|0.978	B;P|B	0.59288|0.44133	0.109;0.855|0.442	T|T	0.48581|0.48581	-0.9023|-0.9023	10|8	0.37606|0.33940	T|T	0.19|0.23	-26.4272|-26.4272	16.3418|16.3418	0.83084|0.83084	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	501;501|501	F5H0K0;P20823|E7EUQ4	.;HNF1A_HUMAN|.	T|S	501;393;501;322;501;501|501	ENSP00000257555:A501T;ENSP00000443112:A501T;ENSP00000438804:A501T|.	ENSP00000257555:A501T|ENSP00000339938:G501S	A|G	+|+	1|1	0|0	HNF1A|HNF1A	119919851|119919851	0.998000|0.998000	0.40836|0.40836	0.994000|0.994000	0.49952|0.49952	0.477000|0.477000	0.33069|0.33069	2.622000|2.622000	0.46427|0.46427	2.327000|2.327000	0.79052|0.79052	0.655000|0.655000	0.94253|0.94253	GCC|GGT		0.627	HNF1A-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000320958.3	NM_000545		7	9	0	0	0	1	0	7	9				
DUOXA2	405753	broad.mit.edu	37	15	45406917	45406917	+	Silent	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:45406917C>T	ENST00000323030.5	+	1	399	c.114C>T	c.(112-114)ttC>ttT	p.F38F	DUOX2_ENST00000389039.6_5'Flank|DUOX2_ENST00000603300.1_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	38					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							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;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CAGCAAGCTTCCTGCTCATCT	0.577																																						ENST00000323030.5																			0											c.(112-114)ttC>ttT		dual oxidase maturation factor 2							147.0	131.0	137.0					15																	45406917		2198	4298	6496	SO:0001819	synonymous_variant	405753				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45406917C>T	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.114C>T	15.37:g.45406917C>T							p.F38F	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)	1	399	+		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)	38					B2RPI9|H0YNQ6	Silent	SNP	ENST00000323030.5	37	c.114C>T	CCDS10118.2																																																																																				0.577	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		22	46	0	0	0	1	0	22	46				
SYTL2	54843	broad.mit.edu	37	11	85428535	85428535	+	Intron	SNP	C	C	T	rs376203930		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:85428535C>T	ENST00000528231.1	-	9	1893				SYTL2_ENST00000354566.3_Missense_Mutation_p.V874I|SYTL2_ENST00000525423.1_Intron|SYTL2_ENST00000389960.4_Missense_Mutation_p.V552I|SYTL2_ENST00000524452.1_Missense_Mutation_p.V552I|SYTL2_ENST00000529581.1_5'UTR|SYTL2_ENST00000528566.1_Intron|SYTL2_ENST00000533892.1_5'UTR|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525702.1_5'Flank|SYTL2_ENST00000389958.3_Intron|SYTL2_ENST00000527523.1_Missense_Mutation_p.V504I|SYTL2_ENST00000359152.5_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTTCTTGGTACGCATTCATTT	0.343																																						ENST00000354566.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2620-2622)Gta>Ata		synaptotagmin-like 2		T	,,,ILE/VAL,ILE/VAL,,,	0,4406		0,0,2203	245.0	228.0	233.0		,,,1654,2620,,,	-1.7	0.9	11		233	1,8597	819.1+/-406.8	0,1,4298	no	intron,utr-5,intron,missense,missense,intron,utr-5,intron	SYTL2	NM_001162951.1,NM_001162952.1,NM_001162953.1,NM_032943.3,NM_206927.2,NM_206928.2,NM_206929.2,NM_206930.2	,,,29,29,,,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,,,benign,benign,,,	,,,552/911,874/1273,,,	85428535	1,13003	2203	4299	6502	SO:0001627	intron_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85428535C>T	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1615+1297G>A	11.37:g.85428535C>T						SYTL2_ENST00000389958.3_Intron|SYTL2_ENST00000533892.1_5'UTR|SYTL2_ENST00000527523.1_Missense_Mutation_p.V504I|SYTL2_ENST00000524452.1_Missense_Mutation_p.V552I|SYTL2_ENST00000528566.1_Intron|SYTL2_ENST00000359152.5_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000389960.4_Missense_Mutation_p.V552I|SYTL2_ENST00000525423.1_Intron|SYTL2_ENST00000529581.1_5'UTR|SYTL2_ENST00000316356.4_Intron	p.V874I	NM_206927.2	NP_996810.1	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	4	2631	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	538			C2 2.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.2620G>A	CCDS53688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.79|12.79	2.043446|2.043446	0.36085|0.36085	0.0|0.0	1.16E-4|1.16E-4	ENSG00000137501|ENSG00000137501	ENST00000533057|ENST00000389960;ENST00000354566;ENST00000530351;ENST00000527523;ENST00000524452	T|T;T;T;T;T	0.60299|0.36520	0.2|1.83;1.75;1.25;1.72;1.83	5.65|5.65	-1.67|-1.67	0.08238|0.08238	.|.	.|.	.|.	.|.	.|.	T|T	0.12987|0.12987	0.0315|0.0315	N|N	0.03608|0.03608	-0.345|-0.345	0.53688|0.53688	D|D	0.999972|0.999972	.|B;B;B;B	.|0.06786	.|0.0;0.001;0.0;0.0	.|B;B;B;B	.|0.01281	.|0.0;0.0;0.0;0.0	T|T	0.27054|0.27054	-1.0085|-1.0085	6|8	.|.	.|.	.|.	.|.	7.9469|7.9469	0.29991|0.29991	0.0:0.4363:0.1208:0.4429|0.0:0.4363:0.1208:0.4429	.|.	.|504;552;874;874	.|Q9HCH5-14;Q9HCH5-6;Q9HCH5-11;Q9HCH5-8	.|.;.;.;.	H|I	2|552;874;293;504;552	ENSP00000436164:R2H|ENSP00000374610:V552I;ENSP00000346576:V874I;ENSP00000435009:V293I;ENSP00000434010:V504I;ENSP00000435238:V552I	.|.	R|V	-|-	2|1	0|0	SYTL2|SYTL2	85106183|85106183	0.743000|0.743000	0.28239|0.28239	0.907000|0.907000	0.35723|0.35723	0.791000|0.791000	0.44710|0.44710	-0.121000|-0.121000	0.10643|0.10643	-0.913000|-0.913000	0.03832|0.03832	-2.676000|-2.676000	0.00143|0.00143	CGT|GTA		0.343	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		36	38	0	0	0	1	0	36	38				
PTGS1	5742	broad.mit.edu	37	9	125149013	125149013	+	Splice_Site	SNP	T	T	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:125149013T>C	ENST00000362012.2	+	9	1301		c.e9+2		PTGS1_ENST00000223423.4_Intron|PTGS1_ENST00000373698.5_Splice_Site|AL162424.1_ENST00000600713.1_5'Flank|PTGS1_ENST00000540753.1_Intron	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)						arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GCTGGCCGGGTAAGCCCcaga	0.562																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.e9+2		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						57.0	49.0	52.0					9																	125149013		2203	4300	6503	SO:0001630	splice_region_variant	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125149013T>C	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1296+2T>C	9.37:g.125149013T>C						PTGS1_ENST00000223423.4_Intron|PTGS1_ENST00000373698.5_Splice_Site|PTGS1_ENST00000540753.1_Intron		NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			9	1301	+								A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Splice_Site	SNP	ENST00000362012.2	37		CCDS6842.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336752	0.60963	.	.	ENSG00000095303	ENST00000362012;ENST00000373698	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9418	0.64059	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTGS1	124188834	1.000000	0.71417	0.986000	0.45419	0.513000	0.34164	8.040000	0.89188	1.887000	0.54652	0.533000	0.62120	.		0.562	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1		Intron	3	38	0	0	0	1	0	3	38				
ANO2	57101	broad.mit.edu	37	12	6030359	6030359	+	Silent	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:6030359G>A	ENST00000356134.5	-	3	440	c.369C>T	c.(367-369)tcC>tcT	p.S123S	ANO2_ENST00000327087.8_Silent_p.S123S|ANO2_ENST00000546188.1_Silent_p.S123S	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	127					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCTCCCCATTGGAGACGATAG	0.627																																						ENST00000546188.1																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(367-369)tcC>tcT		anoctamin 2							46.0	47.0	47.0					12																	6030359		2021	4163	6184	SO:0001819	synonymous_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:6030359G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.369C>T	12.37:g.6030359G>A						ANO2_ENST00000327087.8_Silent_p.S123S|ANO2_ENST00000356134.5_Silent_p.S123S	p.S123S			Q9NQ90	ANO2_HUMAN			3	440	-			127					C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37	c.369C>T																																																																																					0.627	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		19	34	0	0	0	1	0	19	34				
RYR3	6263	broad.mit.edu	37	15	33603218	33603218	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:33603218G>A	ENST00000389232.4	+	0	42				RP11-489D6.2_ENST00000561458.1_RNA|RYR3_ENST00000415757.3_De_novo_Start_OutOfFrame|RP11-489D6.2_ENST00000559457.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						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)		GGCGCCGGAGGCTGGGGCACC	0.692																																						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								ryanodine receptor 3							10.0	16.0	14.0					15																	33603218		1984	4155	6139			6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33603218G>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.-29G>A	15.37:g.33603218G>A						RYR3_ENST00000415757.3_De_novo_Start_OutOfFrame		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)	0	42	+		all_lung(180;7.18e-09)						O15175|Q15412	Translation_Start_Site	SNP	ENST00000389232.4	37		CCDS45210.1																																																																																				0.692	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			12	8	0	0	0	1	0	12	8				
HOXD3	3232	broad.mit.edu	37	2	177036642	177036642	+	Silent	SNP	C	C	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:177036642C>A	ENST00000468418.3	+	4	3029	c.939C>A	c.(937-939)gcC>gcA	p.A313A	HOXD3_ENST00000410016.1_Silent_p.A313A|HOXD3_ENST00000249440.3_Silent_p.A313A|HOXD-AS1_ENST00000416928.2_RNA			P31249	HXD3_HUMAN	homeobox D3	313					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ACGGCCTGGCCGCCTACACGG	0.692																																						ENST00000468418.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(937-939)gcC>gcA		homeobox D3							12.0	12.0	12.0					2																	177036642		2166	4242	6408	SO:0001819	synonymous_variant	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036642C>A		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.939C>A	2.37:g.177036642C>A						HOXD3_ENST00000249440.3_Silent_p.A313A|HOXD3_ENST00000410016.1_Silent_p.A313A	p.A313A			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	4	3029	+			313					Q99955|Q9BSC5	Silent	SNP	ENST00000468418.3	37	c.939C>A	CCDS2270.1																																																																																				0.692	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			4	21	1	0	0.00909568	1	0.00919904	4	21				
ZNF415	55786	broad.mit.edu	37	19	53611915	53611915	+	Silent	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:53611915G>A	ENST00000500065.4	-	4	1716	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000243643.4_Silent_p.I461I|ZNF415_ENST00000440291.1_Silent_p.I448I|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000455735.2_Silent_p.I509I|ZNF415_ENST00000421033.1_Silent_p.I473I|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000601493.1_Silent_p.I231I|ZNF415_ENST00000448501.1_Silent_p.I509I	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CTCCAGTATGGATGACCTGAT	0.438																																						ENST00000455735.2																			0				breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1525-1527)atC>atT		zinc finger protein 415							205.0	180.0	188.0					19																	53611915		2203	4300	6503	SO:0001819	synonymous_variant	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53611915G>A	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1383C>T	19.37:g.53611915G>A						ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000500065.4_Silent_p.I461I|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Silent_p.I473I|ZNF415_ENST00000243643.4_Silent_p.I461I|ZNF415_ENST00000440291.1_Silent_p.I448I|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_Silent_p.I231I|ZNF415_ENST00000448501.1_Silent_p.I509I	p.I509I			Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1847	-			509					F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Silent	SNP	ENST00000500065.4	37	c.1527C>T	CCDS54313.1																																																																																				0.438	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		29	112	0	0	0	1	0	29	112				
NAA25	80018	broad.mit.edu	37	12	112481476	112481476	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:112481476C>A	ENST00000261745.4	-	18	2451	c.2203G>T	c.(2203-2205)Gag>Tag	p.E735*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	735						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AGGGTTGCCTCCAGCTGTTGA	0.433																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(2203-2205)Gag>Tag		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							79.0	79.0	79.0					12																	112481476		2203	4300	6503	SO:0001587	stop_gained	80018					cytoplasm	protein binding	g.chr12:112481476C>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2203G>T	12.37:g.112481476C>A	ENSP00000261745:p.Glu735*						p.E735*	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			18	2451	-			735					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Nonsense_Mutation	SNP	ENST00000261745.4	37	c.2203G>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	40	8.061792	0.98635	.	.	ENSG00000111300	ENST00000261745	.	.	.	5.79	5.79	0.91817	.	0.171765	0.52532	D	0.000080	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-16.0736	20.0474	0.97616	0.0:1.0:0.0:0.0	.	.	.	.	X	735	.	ENSP00000261745:E735X	E	-	1	0	NAA25	110965859	1.000000	0.71417	0.946000	0.38457	0.950000	0.60333	4.507000	0.60434	2.722000	0.93159	0.655000	0.94253	GAG		0.433	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		30	56	1	0	4.3181e-19	1	4.94821e-19	30	56				
SYNE1	23345	broad.mit.edu	37	6	152757155	152757155	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:152757155G>C	ENST00000367255.5	-	33	4832	c.4231C>G	c.(4231-4233)Caa>Gaa	p.Q1411E	SYNE1_ENST00000413186.2_Missense_Mutation_p.Q1411E|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q1477E|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q1401E|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1418E|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q1411E|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1418E|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1411E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1411					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCTTATTTTGGGGCCCAAGC	0.403										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4231-4233)Caa>Gaa		spectrin repeat containing, nuclear envelope 1							147.0	132.0	137.0					6																	152757155		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152757155G>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4231C>G	6.37:g.152757155G>C	ENSP00000356224:p.Gln1411Glu	HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Missense_Mutation_p.Q1411E|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1411E|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q1477E|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q1401E|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1418E|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1418E|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q1411E	p.Q1411E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	33	4832	-		Ovarian(120;0.0955)	1411					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4231C>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586071	0.46110	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;T;D;D	0.87179	1.53;1.53;1.53;1.53;0.88;1.53;-2.21;-2.22	6.07	2.33	0.28932	.	0.194461	0.35466	N	0.003199	T	0.58192	0.2105	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B;B	0.17667	0.011;0.014;0.023;0.011;0.014;0.023	B;B;B;B;B;B	0.20955	0.01;0.009;0.019;0.012;0.009;0.032	T	0.56263	-0.8008	10	0.02654	T	1	.	14.0388	0.64663	0.0:0.0:0.3311:0.6689	.	1394;1411;1401;1411;1411;1418	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	E	1411;1418;1411;1418;1477;1411;1401;1411	ENSP00000356224:Q1411E;ENSP00000396024:Q1418E;ENSP00000265368:Q1411E;ENSP00000390975:Q1418E;ENSP00000341887:Q1477E;ENSP00000356222:Q1411E;ENSP00000356217:Q1401E;ENSP00000414510:Q1411E	ENSP00000265368:Q1411E	Q	-	1	0	SYNE1	152798848	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	3.607000	0.54102	0.161000	0.19458	-0.291000	0.09656	CAA		0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		18	32	0	0	0	1	0	18	32				
FILIP1L	11259	broad.mit.edu	37	3	99567930	99567930	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:99567930G>A	ENST00000354552.3	-	5	3060	c.2590C>T	c.(2590-2592)Ccc>Tcc	p.P864S	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.P864S|FILIP1L_ENST00000487087.1_Missense_Mutation_p.P440S|FILIP1L_ENST00000383694.2_Missense_Mutation_p.P624S|FILIP1L_ENST00000471562.1_Missense_Mutation_p.P624S|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	864						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTCATCCAGGGAATCCATAGC	0.463																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(2590-2592)Ccc>Tcc		filamin A interacting protein 1-like							147.0	137.0	140.0					3																	99567930		1920	4141	6061	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99567930G>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2590C>T	3.37:g.99567930G>A	ENSP00000346560:p.Pro864Ser					FILIP1L_ENST00000354552.3_Missense_Mutation_p.P864S|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.P624S|FILIP1L_ENST00000487087.1_Missense_Mutation_p.P440S|FILIP1L_ENST00000383694.2_Missense_Mutation_p.P624S	p.P864S	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	3060	-			864					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.2590C>T	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682373	0.68157	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.60040	0.52;0.25;0.22;0.53;0.23;0.35	5.99	5.99	0.97316	.	0.000000	0.52532	D	0.000079	T	0.75369	0.3840	L	0.59436	1.845	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.75303	-0.3365	10	0.87932	D	0	-11.3541	20.4777	0.99188	0.0:0.0:1.0:0.0	.	864;864	Q4L180-2;Q4L180	.;FIL1L_HUMAN	S	864;440;624;864;624;610;624	ENSP00000346560:P864S;ENSP00000417774:P440S;ENSP00000419642:P624S;ENSP00000327880:P864S;ENSP00000373192:P624S;ENSP00000419874:P624S	ENSP00000327880:P864S	P	-	1	0	FILIP1L	101050620	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	6.673000	0.74482	2.840000	0.97914	0.655000	0.94253	CCC		0.463	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		24	141	0	0	0	1	0	24	141				
SOX9	6662	broad.mit.edu	37	17	70119806	70119806	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:70119806T>A	ENST00000245479.2	+	3	1180	c.808T>A	c.(808-810)Ttc>Atc	p.F270I		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	270					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCCTATCGACTTCCGCGACGT	0.647																																					Pancreas(42;83 1041 2320 35205 39456)	ENST00000245479.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26						c.(808-810)Ttc>Atc		SRY (sex determining region Y)-box 9							62.0	70.0	67.0					17																	70119806		2203	4300	6503	SO:0001583	missense	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70119806T>A	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.808T>A	17.37:g.70119806T>A	ENSP00000245479:p.Phe270Ile						p.F270I	NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		3	1180	+		Colorectal(1115;0.245)	270					Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	c.808T>A	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.616893	0.66672	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.82893	-1.66	4.53	4.53	0.55603	.	0.058031	0.64402	D	0.000001	D	0.88800	0.6535	H	0.96080	3.765	0.80722	D	1	P	0.40250	0.709	B	0.40410	0.328	D	0.91445	0.5177	10	0.87932	D	0	.	13.5225	0.61576	0.0:0.0:0.0:1.0	.	270	P48436	SOX9_HUMAN	I	270	ENSP00000245479:F270I	ENSP00000245479:F270I	F	+	1	0	SOX9	67631401	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	7.714000	0.84703	1.676000	0.50930	0.379000	0.24179	TTC		0.647	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		56	41	0	0	0	1	0	56	41				
SRRM3	222183	broad.mit.edu	37	7	75894094	75894094	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:75894094C>A	ENST00000326382.8	+	9	893	c.686C>A	c.(685-687)tCc>tAc	p.S229Y	SRRM3_ENST00000388802.4_Missense_Mutation_p.S229Y	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3	229	Arg-rich.|Lys-rich.|Ser-rich.									NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						TCTCGAAGCTCCAAGTGCAAA	0.572																																						ENST00000388802.4																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						c.(685-687)tCc>tAc		serine/arginine repetitive matrix 3							103.0	103.0	103.0					7																	75894094		1568	3582	5150	SO:0001583	missense	222183							g.chr7:75894094C>A	AK092590		7q11.23	2014-02-12			ENSG00000177679	ENSG00000177679			26729	protein-coding gene	gene with protein product							Standard	NM_001291831		Approved	FLJ37078	uc010ldi.2	A6NNA2	OTTHUMG00000130489	ENST00000326382.8:c.686C>A	7.37:g.75894094C>A	ENSP00000325298:p.Ser229Tyr					SRRM3_ENST00000326382.8_Missense_Mutation_p.S229Y	p.S229Y							9	895	+								A6ND75	Missense_Mutation	SNP	ENST00000326382.8	37	c.686C>A		.	.	.	.	.	.	.	.	.	.	C	12.26	1.885947	0.33348	.	.	ENSG00000177679	ENST00000388802;ENST00000326382	T	0.02525	4.26	4.23	3.33	0.38152	.	0.276012	0.25645	N	0.029246	T	0.02047	0.0064	N	0.14661	0.345	0.20563	N	0.999882	B	0.28512	0.214	B	0.25405	0.06	T	0.44892	-0.9298	10	0.66056	D	0.02	-7.1629	8.5875	0.33666	0.0:0.8886:0.0:0.1114	.	229	A6NNA2	SRRM3_HUMAN	Y	229	ENSP00000373454:S229Y	ENSP00000325298:S229Y	S	+	2	0	SRRM3	75732030	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	2.356000	0.44116	1.108000	0.41662	0.555000	0.69702	TCC		0.572	SRRM3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000252889.2	NM_001110199		4	63	1	0	0.000602214	1	0.000618428	4	63				
GPC5	2262	broad.mit.edu	37	13	92560193	92560193	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:92560193A>G	ENST00000377067.3	+	6	1655	c.1283A>G	c.(1282-1284)tAt>tGt	p.Y428C		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	428					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTTGCTAGTTATACTCAGCGT	0.378																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1282-1284)tAt>tGt		glypican 5							70.0	74.0	72.0					13																	92560193		1357	2306	3663	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92560193A>G	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1283A>G	13.37:g.92560193A>G	ENSP00000366267:p.Tyr428Cys						p.Y428C	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			6	1655	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	428					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1283A>G	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.211294	0.39102	.	.	ENSG00000179399	ENST00000377067	T	0.63744	-0.06	4.73	4.73	0.59995	.	0.148362	0.47093	D	0.000248	T	0.79305	0.4423	M	0.84326	2.69	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.82524	-0.0414	10	0.87932	D	0	-4.8679	12.2238	0.54449	1.0:0.0:0.0:0.0	.	428	P78333	GPC5_HUMAN	C	428	ENSP00000366267:Y428C	ENSP00000366267:Y428C	Y	+	2	0	GPC5	91358194	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	8.244000	0.89823	1.888000	0.54679	0.477000	0.44152	TAT		0.378	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		3	31	0	0	0	1	0	3	31				
OR10J1	26476	broad.mit.edu	37	1	159410019	159410019	+	Silent	SNP	G	G	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:159410019G>T	ENST00000423932.3	+	1	508	c.471G>T	c.(469-471)ctG>ctT	p.L157L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	157					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AACTTGTCCTGGGGGCCTGCA	0.498																																						ENST00000423932.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25						c.(469-471)ctG>ctT		olfactory receptor, family 10, subfamily J, member 1							139.0	132.0	134.0					1																	159410019		2203	4300	6503	SO:0001819	synonymous_variant	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410019G>T	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.471G>T	1.37:g.159410019G>T						RP11-550P17.5_ENST00000431862.1_RNA	p.L157L	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN			1	508	+	all_hematologic(112;0.0429)		157					Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Silent	SNP	ENST00000423932.3	37	c.471G>T	CCDS1185.1																																																																																				0.498	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		63	39	1	0	2.3441e-25	1	2.73308e-25	63	39				
SIAH2	6478	broad.mit.edu	37	3	150460311	150460311	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:150460311G>T	ENST00000312960.3	-	2	1119	c.592C>A	c.(592-594)Ctt>Att	p.L198I		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	198	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCTCCCTGAAGGGTGGTAATG	0.537																																						ENST00000312960.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16						c.(592-594)Ctt>Att		siah E3 ubiquitin protein ligase 2							127.0	115.0	119.0					3																	150460311		2203	4300	6503	SO:0001583	missense	6478				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:150460311G>T	U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.592C>A	3.37:g.150460311G>T	ENSP00000322457:p.Leu198Ile						p.L198I	NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	1119	-			198			SBD.		O43270	Missense_Mutation	SNP	ENST00000312960.3	37	c.592C>A	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506402	0.85282	.	.	ENSG00000181788	ENST00000312960;ENST00000482706	T;T	0.26067	1.76;1.76	5.67	5.67	0.87782	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	L	0.55990	1.75	0.80722	D	1	B	0.31790	0.34	P	0.53450	0.726	T	0.21348	-1.0248	10	0.30854	T	0.27	.	19.7784	0.96405	0.0:0.0:1.0:0.0	.	198	O43255	SIAH2_HUMAN	I	198;72	ENSP00000322457:L198I;ENSP00000417619:L72I	ENSP00000322457:L198I	L	-	1	0	SIAH2	151943001	1.000000	0.71417	0.995000	0.50966	0.458000	0.32498	9.848000	0.99507	2.658000	0.90341	0.591000	0.81541	CTT		0.537	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067		77	45	1	0	1.15773e-35	1	1.36173e-35	77	45				
LAMC1	3915	broad.mit.edu	37	1	183095268	183095268	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:183095268G>A	ENST00000258341.4	+	16	3072	c.2815G>A	c.(2815-2817)Gcc>Acc	p.A939T	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	939	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TGACTGCCATGCCTTGGGCTC	0.488																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(2815-2817)Gcc>Acc		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						59.0	52.0	55.0					1																	183095268		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183095268G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2815G>A	1.37:g.183095268G>A	ENSP00000258341:p.Ala939Thr					LAMC1_ENST00000466964.1_3'UTR	p.A939T	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			16	3072	+			939			Laminin EGF-like 10.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.2815G>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867339	0.51588	.	.	ENSG00000135862	ENST00000258341	T	0.61510	0.1	5.64	3.77	0.43336	EGF-like, laminin (3);	0.097504	0.64402	D	0.000001	T	0.37679	0.1012	N	0.20685	0.6	0.43628	D	0.996015	B	0.20550	0.046	B	0.18263	0.021	T	0.14587	-1.0467	10	0.42905	T	0.14	.	5.9022	0.18972	0.0688:0.2537:0.5464:0.1311	.	939	P11047	LAMC1_HUMAN	T	939	ENSP00000258341:A939T	ENSP00000258341:A939T	A	+	1	0	LAMC1	181361891	0.909000	0.30893	0.999000	0.59377	0.965000	0.64279	1.776000	0.38594	0.744000	0.32741	-0.150000	0.13652	GCC		0.488	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		14	42	0	0	0	1	0	14	42				
SSC4D	136853	broad.mit.edu	37	7	76021343	76021343	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:76021343C>T	ENST00000275560.3	-	10	1696	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GACTTGCAGTCCCAGCTCCTC	0.607																																						ENST00000275560.3																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1348-1350)gGa>gAa		scavenger receptor cysteine rich domain containing, group B (4 domains)							45.0	33.0	37.0					7																	76021343		2200	4298	6498	SO:0001583	missense	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76021343C>T																												ENST00000275560.3:c.1349G>A	7.37:g.76021343C>T	ENSP00000275560:p.Gly450Glu					SRCRB4D_ENST00000492979.2_5'UTR	p.G450E	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN			10	1696	-			450						Missense_Mutation	SNP	ENST00000275560.3	37	c.1349G>A	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407318	0.25378	.	.	ENSG00000146700	ENST00000275560	T	0.39997	1.05	3.92	3.92	0.45320	Speract/scavenger receptor-related (1);	0.793648	0.11163	N	0.592839	T	0.20088	0.0483	N	0.14661	0.345	0.36114	D	0.845011	P	0.36599	0.56	B	0.28638	0.092	T	0.10941	-1.0608	10	0.02654	T	1	.	11.63	0.51168	0.0:1.0:0.0:0.0	.	450	Q8WTU2	SRB4D_HUMAN	E	450	ENSP00000275560:G450E	ENSP00000275560:G450E	G	-	2	0	SRCRB4D	75859279	0.954000	0.32549	1.000000	0.80357	0.984000	0.73092	1.941000	0.40233	2.220000	0.72140	0.491000	0.48974	GGA		0.607	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			5	14	0	0	0	1	0	5	14				
GTF2A1L	11036	broad.mit.edu	37	2	48848402	48848402	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:48848402T>G	ENST00000403751.3	+	3	257	c.220T>G	c.(220-222)Ttg>Gtg	p.L74V	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.L778V|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.L778V|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.L778V|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.L778V|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.L40V|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.L778V|GTF2A1L_ENST00000468326.1_3'UTR	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	74					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCGCACAGCTTGCACCAAAC	0.403																																						ENST00000394754.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91						c.(2332-2334)Ttg>Gtg									81.0	81.0	81.0					2																	48848402		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48848402T>G	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.220T>G	2.37:g.48848402T>G	ENSP00000384597:p.Leu74Val					STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.L778V|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.L74V|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.L778V|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.L778V|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.L778V|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.L40V	p.L778V	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	2446	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	778					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.2332T>G	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.515363	0.64634	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000448460;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;1.06;0.93;0.93	4.69	4.69	0.59074	.	0.189007	0.36972	N	0.002311	T	0.62575	0.2439	M	0.71581	2.175	0.21290	N	0.999737	D;P;D;D;P	0.89917	0.998;0.495;0.961;1.0;0.77	D;B;P;D;B	0.87578	0.969;0.119;0.704;0.998;0.34	T	0.56836	-0.7913	10	0.59425	D	0.04	.	13.7717	0.63029	0.0:0.0:0.0:1.0	.	40;778;778;74;778	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	V	778;778;778;778;778;73;40;74;40;74	ENSP00000385499:L778V;ENSP00000385701:L778V;ENSP00000378236:L778V;ENSP00000311493:L778V;ENSP00000378234:L778V;ENSP00000412645:L40V;ENSP00000396702:L74V;ENSP00000387896:L40V;ENSP00000384597:L74V	ENSP00000384597:L74V	L	+	1	2	STON1-GTF2A1L;GTF2A1L	48701906	0.996000	0.38824	0.995000	0.50966	0.822000	0.46500	2.673000	0.46858	2.098000	0.63641	0.460000	0.39030	TTG		0.403	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		9	57	0	0	0	1	0	9	57				
GCC2	9648	broad.mit.edu	37	2	109088522	109088522	+	Silent	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:109088522C>T	ENST00000309863.6	+	6	3451	c.2737C>T	c.(2737-2739)Cta>Tta	p.L913L		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	913					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAAGCCACTACTAGAACAAAA	0.289																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2737-2739)Cta>Tta		GRIP and coiled-coil domain containing 2							40.0	45.0	43.0					2																	109088522		2163	4261	6424	SO:0001819	synonymous_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109088522C>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2737C>T	2.37:g.109088522C>T							p.L913L	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			6	3451	+			913					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	ENST00000309863.6	37	c.2737C>T	CCDS33268.1																																																																																				0.289	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		25	101	0	0	0	1	0	25	101				
KIAA0922	23240	broad.mit.edu	37	4	154557505	154557505	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:154557505C>T	ENST00000409663.3	+	35	4659	c.4607C>T	c.(4606-4608)tCc>tTc	p.S1536F	KIAA0922_ENST00000409959.3_Missense_Mutation_p.S1537F|KIAA0922_ENST00000440693.1_Missense_Mutation_p.S1453F	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1536						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTTTTTGGTTCCATCTGGGCC	0.463																																						ENST00000409959.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4609-4611)tCc>tTc		KIAA0922							93.0	100.0	98.0					4																	154557505		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154557505C>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4607C>T	4.37:g.154557505C>T	ENSP00000386574:p.Ser1536Phe					KIAA0922_ENST00000440693.1_Missense_Mutation_p.S1453F|KIAA0922_ENST00000409663.3_Missense_Mutation_p.S1536F	p.S1537F	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN			35	4659	+	all_hematologic(180;0.093)	Renal(120;0.118)	1536					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.4610C>T	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953659	0.92660	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.41758	1.28;0.99;1.27;1.01	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.64538	0.2607	L	0.59436	1.845	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	0.64097	-0.6487	10	0.87932	D	0	-20.1742	20.3312	0.98718	0.0:1.0:0.0:0.0	.	1453;1537;1536	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	F	1536;1453;1537;1314	ENSP00000386574:S1536F;ENSP00000409663:S1453F;ENSP00000386787:S1537F;ENSP00000240487:S1314F	ENSP00000240487:S1314F	S	+	2	0	KIAA0922	154776955	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.205000	0.77881	2.797000	0.96272	0.655000	0.94253	TCC		0.463	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		14	65	0	0	0	1	0	14	65				
TFEB	7942	broad.mit.edu	37	6	41653976	41653976	+	Splice_Site	SNP	C	C	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:41653976C>G	ENST00000230323.4	-	9	1105		c.e9-1		TFEB_ENST00000358871.2_Splice_Site|TFEB_ENST00000403298.4_Splice_Site|TFEB_ENST00000373033.1_Splice_Site|AL035588.1_ENST00000597468.1_Missense_Mutation_p.L5V|TFEB_ENST00000420312.1_Splice_Site	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB						autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GCGCACGTCCCTGCAGCAGCA	0.562			T	ALPHA	renal (childhood epithelioid)																																	ENST00000597468.1				Dom	yes		6	6p21	7942		transcription factor EB			"""E,M"""					0											c.(13-15)Ctg>Gtg									84.0	78.0	80.0					6																	41653976		2203	4300	6503	SO:0001630	splice_region_variant	7942							g.chr6:41653976C>G	M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.804-1G>C	6.37:g.41653976C>G						TFEB_ENST00000358871.2_Splice_Site|TFEB_ENST00000403298.4_Splice_Site|TFEB_ENST00000230323.4_Splice_Site|TFEB_ENST00000373033.1_Splice_Site|TFEB_ENST00000420312.1_Splice_Site	p.L5V							1	13	+								Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Missense_Mutation	SNP	ENST00000230323.4	37	c.13C>G	CCDS4858.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500458	0.64298	.	.	ENSG00000112561	ENST00000406563;ENST00000343317;ENST00000230323;ENST00000358871;ENST00000403298;ENST00000420312;ENST00000373033	.	.	.	5.06	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4009	0.60883	0.0:0.9218:0.0:0.0782	.	.	.	.	.	-1	.	.	.	-	.	.	TFEB	41761954	1.000000	0.71417	0.997000	0.53966	0.863000	0.49368	6.082000	0.71318	2.355000	0.79922	0.655000	0.94253	.		0.562	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3		Intron	21	20	0	0	0	1	0	21	20				
TMEM200A	114801	broad.mit.edu	37	6	130762696	130762696	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:130762696G>C	ENST00000296978.3	+	3	2000	c.1129G>C	c.(1129-1131)Gct>Cct	p.A377P	TMEM200A_ENST00000392429.1_Missense_Mutation_p.A377P|TMEM200A_ENST00000545622.1_Missense_Mutation_p.A377P	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	377						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTCTCCTGGGGCTGCCAGAAG	0.517																																						ENST00000392429.1																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1129-1131)Gct>Cct		transmembrane protein 200A							74.0	75.0	75.0					6																	130762696		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130762696G>C	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1129G>C	6.37:g.130762696G>C	ENSP00000296978:p.Ala377Pro					TMEM200A_ENST00000545622.1_Missense_Mutation_p.A377P|TMEM200A_ENST00000296978.3_Missense_Mutation_p.A377P	p.A377P	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	2	3507	+			377					Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.1129G>C	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602265	0.66445	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	6.07	5.2	0.72013	.	0.161598	0.53938	D	0.000046	T	0.29850	0.0746	N	0.14661	0.345	0.80722	D	1	P	0.38223	0.623	P	0.44477	0.451	T	0.08932	-1.0698	9	0.27785	T	0.31	-12.882	14.8195	0.70062	0.0683:0.0:0.9317:0.0	.	377	Q86VY9	T200A_HUMAN	P	377	.	ENSP00000296978:A377P	A	+	1	0	TMEM200A	130804389	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.739000	0.74827	2.885000	0.99019	0.655000	0.94253	GCT		0.517	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		13	51	0	0	0	1	0	13	51				
ZCRB1	85437	broad.mit.edu	37	12	42707675	42707675	+	Splice_Site	SNP	C	C	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:42707675C>G	ENST00000266529.3	-	6	630		c.e6+1		ZCRB1_ENST00000552673.1_Splice_Site|PPHLN1_ENST00000549190.1_Intron	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		AATATACATACATTTCTTCTT	0.323																																						ENST00000266529.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8						c.e6+1		zinc finger CCHC-type and RNA binding motif 1							67.0	65.0	66.0					12																	42707675		2203	4300	6503	SO:0001630	splice_region_variant	85437				mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding	g.chr12:42707675C>G	BC022543	CCDS8740.1	12q12	2013-02-12				ENSG00000139168		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	29620	protein-coding gene	gene with protein product	"""U11/U12 snRNP 31K"""	610750				15146077, 16959469	Standard	NM_033114		Approved	MADP-1, MADP1, RBM36, ZCCHC19, SNRNP31	uc001rmz.3	Q8TBF4	OTTHUMG00000169382	ENST00000266529.3:c.446+1G>C	12.37:g.42707675C>G						ZCRB1_ENST00000552673.1_Splice_Site|PPHLN1_ENST00000549190.1_Intron		NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN		GBM - Glioblastoma multiforme(48;0.0689)	6	630	-	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)						Q6PJX0|Q96TA6	Splice_Site	SNP	ENST00000266529.3	37		CCDS8740.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663627	0.88251	.	.	ENSG00000139168	ENST00000266529;ENST00000552673;ENST00000552235	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1634	0.98142	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZCRB1	40993942	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.381000	0.66208	2.773000	0.95371	0.655000	0.94253	.		0.323	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403813.1	NM_033114	Intron	24	32	0	0	0	1	0	24	32				
USP29	57663	broad.mit.edu	37	19	57641825	57641825	+	Silent	SNP	C	C	A	rs35663514		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:57641825C>A	ENST00000254181.4	+	4	2236	c.1782C>A	c.(1780-1782)ccC>ccA	p.P594P	USP29_ENST00000598197.1_Silent_p.P594P	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	594	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGTTCTACCCGTTGAACCAG	0.488																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1780-1782)ccC>ccA		ubiquitin specific peptidase 29							68.0	68.0	68.0					19																	57641825		2203	4300	6503	SO:0001819	synonymous_variant	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641825C>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1782C>A	19.37:g.57641825C>A						USP29_ENST00000598197.1_Silent_p.P594P	p.P594P	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2236	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	594						Silent	SNP	ENST00000254181.4	37	c.1782C>A	CCDS33124.1																																																																																				0.488	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			7	26	1	0	0.000157383	1	0.00016479	7	26				
NLRC3	197358	broad.mit.edu	37	16	3613383	3613383	+	RNA	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr16:3613383C>T	ENST00000301749.7	-	0	1960				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACAAGAGGCCGGAGAGGAAG	0.692																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							8.0	10.0	9.0					16																	3613383		2098	4204	6302			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3613383C>T	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613383C>T						NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	1960	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			.	.	.	.	.	.	.	.	.	.	C	21.2	4.108271	0.77096	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67	5.09	4.14	0.48551	.	0.057579	0.64402	N	0.000001	D	0.93693	0.7985	.	.	.	0.33546	D	0.595519	P	0.41420	0.749	P	0.57620	0.824	D	0.96120	0.9084	9	0.87932	D	0	.	11.0941	0.48134	0.0:0.9095:0.0:0.0905	.	566	C9JLH9	.	S	519;519;519;566;501	ENSP00000301749:G519S;ENSP00000352039:G519S;ENSP00000414415:G566S;ENSP00000323897:G501S	ENSP00000301749:G519S	G	-	1	0	NLRC3	3553384	1.000000	0.71417	0.725000	0.30721	0.938000	0.57974	5.968000	0.70413	1.135000	0.42183	0.655000	0.94253	GGC		0.692	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		11	2	0	0	0	1	0	11	2				
DPRX	503834	broad.mit.edu	37	19	54135361	54135361	+	Start_Codon_SNP	SNP	A	A	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:54135361A>C	ENST00000376650.1	+	1	52	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	RN7SL317P_ENST00000497408.2_RNA	NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	1					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		GGATTAGAAGATGCCAGGCTC	0.502																																						ENST00000376650.1																			0				endometrium(4)|large_intestine(1)|lung(7)	12						c.(1-3)Atg>Ctg		divergent-paired related homeobox							131.0	129.0	130.0					19																	54135361		2203	4300	6503	SO:0001582	initiator_codon_variant	503834					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:54135361A>C		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.1A>C	19.37:g.54135361A>C	ENSP00000365838:p.Met1Leu						p.M1L	NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN		GBM - Glioblastoma multiforme(134;0.013)	1	52	+	Ovarian(34;0.19)		1						Translation_Start_Site	SNP	ENST00000376650.1	37	c.1A>C	CCDS33103.1	.	.	.	.	.	.	.	.	.	.	A	8.497	0.863456	0.17250	.	.	ENSG00000204595	ENST00000376650	D	0.93859	-3.3	2.02	0.922	0.19408	.	.	.	.	.	D	0.86091	0.5850	.	.	.	0.21697	N	0.999589	B	0.02656	0.0	B	0.01281	0.0	T	0.73285	-0.4031	8	0.34782	T	0.22	.	4.8668	0.13613	0.6757:0.3243:0.0:0.0	.	1	A6NFQ7	DPRX_HUMAN	L	1	ENSP00000365838:M1L	ENSP00000365838:M1L	M	+	1	0	DPRX	58827173	0.022000	0.18835	0.002000	0.10522	0.011000	0.07611	1.652000	0.37313	0.213000	0.20722	0.477000	0.44152	ATG		0.502	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728	Missense_Mutation	27	74	0	0	0	1	0	27	74				
TRIM42	287015	broad.mit.edu	37	3	140401413	140401413	+	Silent	SNP	C	C	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:140401413C>A	ENST00000286349.3	+	2	642	c.451C>A	c.(451-453)Cgg>Agg	p.R151R		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	151						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R151R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATGTGCAGCCGGCTGCGCCT	0.592																																						ENST00000286349.3																			1	Substitution - coding silent(1)	p.R151R(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(451-453)Cgg>Agg		tripartite motif containing 42							108.0	103.0	105.0					3																	140401413		2203	4300	6503	SO:0001819	synonymous_variant	287015					intracellular	zinc ion binding	g.chr3:140401413C>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.451C>A	3.37:g.140401413C>A							p.R151R	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			2	642	+			151					A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	c.451C>A	CCDS3113.1																																																																																				0.592	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		22	106	1	0	0.00188189	1	0.00192515	22	106				
ZNF606	80095	broad.mit.edu	37	19	58490276	58490276	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:58490276G>A	ENST00000341164.4	-	7	2392	c.1772C>T	c.(1771-1773)aCg>aTg	p.T591M	ZNF606_ENST00000536132.1_Missense_Mutation_p.T501M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	591					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)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTCTCTCCCGTGTGAGTTCT	0.418																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1771-1773)aCg>aTg		zinc finger protein 606							90.0	88.0	89.0					19																	58490276		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490276G>A	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1772C>T	19.37:g.58490276G>A	ENSP00000343617:p.Thr591Met					ZNF606_ENST00000536132.1_Missense_Mutation_p.T501M	p.T591M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2392	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	591					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1772C>T	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647444	0.47258	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.26373	1.74;1.74	4.91	4.91	0.64330	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.134588	0.34676	N	0.003775	T	0.53530	0.1802	M	0.79926	2.475	0.46416	D	0.999034	D	0.89917	1.0	D	0.68765	0.96	T	0.58973	-0.7541	10	0.87932	D	0	.	17.3812	0.87405	0.0:0.0:1.0:0.0	.	591	Q8WXB4	ZN606_HUMAN	M	591;501	ENSP00000343617:T591M;ENSP00000445624:T501M	ENSP00000343617:T591M	T	-	2	0	ZNF606	63182088	0.994000	0.37717	0.995000	0.50966	0.976000	0.68499	2.147000	0.42226	2.706000	0.92434	0.561000	0.74099	ACG		0.418	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		34	29	0	0	0	1	0	34	29				
ELOVL2	54898	broad.mit.edu	37	6	10984106	10984106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:10984106G>A	ENST00000354666.3	-	8	882	c.799C>T	c.(799-801)Caa>Taa	p.Q267*		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	267					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GGTGGCTCTTGCATATCTTTC	0.353																																						ENST00000354666.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14						c.(799-801)Caa>Taa		ELOVL fatty acid elongase 2							176.0	158.0	164.0					6																	10984106		2202	4300	6502	SO:0001587	stop_gained	54898				fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:10984106G>A	AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"""			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.799C>T	6.37:g.10984106G>A	ENSP00000346693:p.Gln267*						p.Q267*	NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	Epithelial(50;0.176)		8	882	-	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	267					Q6P9E1|Q86W94	Nonsense_Mutation	SNP	ENST00000354666.3	37	c.799C>T	CCDS4518.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918958	0.92249	.	.	ENSG00000197977	ENST00000354666	.	.	.	5.2	1.85	0.25348	.	5.285310	0.00357	N	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	5.3105	4.6611	0.12643	0.0:0.2196:0.3602:0.4202	.	.	.	.	X	267	.	ENSP00000346693:Q267X	Q	-	1	0	ELOVL2	11092092	0.023000	0.18921	0.001000	0.08648	0.696000	0.40369	1.113000	0.31184	0.658000	0.30925	0.650000	0.86243	CAA		0.353	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039849.1			14	20	0	0	0	1	0	14	20				
CDC42BPG	55561	broad.mit.edu	37	11	64602043	64602043	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:64602043G>C	ENST00000342711.5	-	19	2181	c.2182C>G	c.(2182-2184)Cag>Gag	p.Q728E	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GCCTTCCACTGGTGGTCCTGG	0.662																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(2182-2184)Cag>Gag		CDC42 binding protein kinase gamma (DMPK-like)							9.0	10.0	10.0					11																	64602043		2172	4258	6430	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64602043G>C	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.2182C>G	11.37:g.64602043G>C	ENSP00000345133:p.Gln728Glu						p.Q728E	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			19	2181	-			728						Missense_Mutation	SNP	ENST00000342711.5	37	c.2182C>G	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	g	16.31	3.086099	0.55861	.	.	ENSG00000171219	ENST00000342711	T	0.39406	1.08	5.2	5.2	0.72013	.	0.000000	0.52532	D	0.000065	T	0.30510	0.0767	N	0.22421	0.69	0.38202	D	0.940221	P	0.37864	0.61	B	0.37989	0.262	T	0.11591	-1.0581	10	0.13470	T	0.59	.	16.6167	0.84918	0.0:0.0:1.0:0.0	.	728	Q6DT37	MRCKG_HUMAN	E	728	ENSP00000345133:Q728E	ENSP00000345133:Q728E	Q	-	1	0	CDC42BPG	64358619	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.434000	0.73408	2.613000	0.88420	0.550000	0.68814	CAG		0.662	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		4	5	0	0	0	1	0	4	5				
ZNF804B	219578	broad.mit.edu	37	7	88963958	88963958	+	Silent	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:88963958G>A	ENST00000333190.4	+	4	2271	c.1662G>A	c.(1660-1662)ttG>ttA	p.L554L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	554							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AATATAATTTGGACTACAGTG	0.348										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(1660-1662)ttG>ttA		zinc finger protein 804B							42.0	44.0	43.0					7																	88963958		2199	4295	6494	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88963958G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1662G>A	7.37:g.88963958G>A		HNSCC(36;0.09)					p.L554L	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2271	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		554					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.1662G>A	CCDS5613.1																																																																																				0.348	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		29	30	0	0	0	1	0	29	30				
UBE3B	89910	broad.mit.edu	37	12	109921470	109921470	+	Silent	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:109921470C>T	ENST00000342494.3	+	3	709	c.114C>T	c.(112-114)gcC>gcT	p.A38A	UBE3B_ENST00000434735.2_Silent_p.A38A|UBE3B_ENST00000536398.1_Silent_p.A38A|UBE3B_ENST00000340074.5_Silent_p.A38A|UBE3B_ENST00000280774.5_Silent_p.A38A|UBE3B_ENST00000537063.1_Silent_p.A38A|UBE3B_ENST00000540230.1_Silent_p.A38A	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	38	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGATCCAGGCCCATGTCCGGA	0.537																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(112-114)gcC>gcT		ubiquitin protein ligase E3B							158.0	150.0	153.0					12																	109921470		2203	4300	6503	SO:0001819	synonymous_variant	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109921470C>T	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.114C>T	12.37:g.109921470C>T						UBE3B_ENST00000537063.1_Silent_p.A38A|UBE3B_ENST00000540230.1_Silent_p.A38A|UBE3B_ENST00000536398.1_Silent_p.A38A|UBE3B_ENST00000340074.5_Silent_p.A38A|UBE3B_ENST00000280774.5_Silent_p.A38A|UBE3B_ENST00000434735.2_Silent_p.A38A	p.A38A	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN			3	709	+			38			IQ.		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	ENST00000342494.3	37	c.114C>T	CCDS9129.1																																																																																				0.537	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		48	64	0	0	0	1	0	48	64				
LIFR	3977	broad.mit.edu	37	5	38506107	38506107	+	Silent	SNP	A	A	G			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:38506107A>G	ENST00000263409.4	-	9	1353	c.1191T>C	c.(1189-1191)ttT>ttC	p.F397F	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.F397F	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	397	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GAAGCATTTGAAATAATAATT	0.274			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(1189-1191)ttT>ttC		leukemia inhibitory factor receptor alpha							62.0	68.0	66.0					5																	38506107		2203	4289	6492	SO:0001819	synonymous_variant	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38506107A>G	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1191T>C	5.37:g.38506107A>G						LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.F397F	p.F397F	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			9	1353	-	all_lung(31;0.00021)		397			Fibronectin type-III 2.		Q6LCD9	Silent	SNP	ENST00000263409.4	37	c.1191T>C	CCDS3927.1																																																																																				0.274	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		19	150	0	0	0	1	0	19	150				
PSMF1	9491	broad.mit.edu	37	20	1145041	1145041	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr20:1145041C>T	ENST00000335877.6	+	6	861	c.685C>T	c.(685-687)Ccg>Tcg	p.P229S	PSMF1_ENST00000333082.3_Missense_Mutation_p.P229S|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.P141S|PSMF1_ENST00000246015.4_Missense_Mutation_p.P229S|PSMF1_ENST00000438768.2_Missense_Mutation_p.P167S	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	229	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CTCAGGCCTCCCGAACCGACT	0.582																																						ENST00000335877.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						c.(685-687)Ccg>Tcg		proteasome (prosome, macropain) inhibitor subunit 1 (PI31)							164.0	175.0	171.0					20																	1145041		2203	4300	6503	SO:0001583	missense	9491				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding	g.chr20:1145041C>T	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.685C>T	20.37:g.1145041C>T	ENSP00000338039:p.Pro229Ser					PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.P141S|PSMF1_ENST00000333082.3_Missense_Mutation_p.P229S|PSMF1_ENST00000438768.2_Missense_Mutation_p.P167S|PSMF1_ENST00000246015.4_Missense_Mutation_p.P229S	p.P229S	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN			6	861	+			229			Pro-rich.		A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	ENST00000335877.6	37	c.685C>T	CCDS13010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.964066|4.964066	0.92791|0.92791	.|.	.|.	ENSG00000125818|ENSG00000125818	ENST00000435720|ENST00000333082;ENST00000381898;ENST00000454500;ENST00000246015;ENST00000335877;ENST00000438768	.|T;T;T;T;T	.|0.67698	.|1.02;-0.28;1.0;1.02;-0.28	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.79598|0.79598	0.4473|0.4473	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.999;0.999;0.999;1.0;1.0	T|T	0.74902|0.74902	-0.3506|-0.3506	6|10	.|0.32370	.|T	.|0.25	-9.3315|-9.3315	18.4322|18.4322	0.90630|0.90630	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|167;141;141;229;229	.|E7ER20;F5H4Z3;B4DUJ0;Q5QPM7;Q92530	.|.;.;.;.;PSMF1_HUMAN	L|S	70|229;141;123;229;229;167	.|ENSP00000327704:P229S;ENSP00000371323:P141S;ENSP00000246015:P229S;ENSP00000338039:P229S;ENSP00000401404:P167S	.|ENSP00000246015:P229S	P|P	+|+	2|1	0|0	PSMF1|PSMF1	1093041|1093041	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.671000|0.671000	0.39405|0.39405	6.667000|6.667000	0.74451|0.74451	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	CCC|CCG		0.582	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		40	351	0	0	0	1	0	40	351				
RCVRN	5957	broad.mit.edu	37	17	9808174	9808174	+	Silent	SNP	G	G	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:9808174G>C	ENST00000226193.5	-	1	764	c.324C>G	c.(322-324)ctC>ctG	p.L108L		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	108	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						CCACGTCGTAGAGGGAGAAGG	0.617																																						ENST00000226193.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						c.(322-324)ctC>ctG		recoverin							175.0	137.0	150.0					17																	9808174		2203	4300	6503	SO:0001819	synonymous_variant	5957				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr17:9808174G>C	BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"""EF-hand domain containing"""	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.324C>G	17.37:g.9808174G>C							p.L108L	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN			1	764	-			108			EF-hand 3.		Q53XL0	Silent	SNP	ENST00000226193.5	37	c.324C>G	CCDS11151.1																																																																																				0.617	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903		20	58	0	0	0	1	0	20	58				
KRTAP4-1	85285	broad.mit.edu	37	17	39340909	39340909	+	Silent	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:39340909G>A	ENST00000398472.1	-	1	685	c.198C>T	c.(196-198)caC>caT	p.H66H				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	66	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		H -> R (in dbSNP:rs2320231). {ECO:0000269|PubMed:11279113, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AACAGACTGGGTGGCAGCAGC	0.637																																						ENST00000398472.1																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(196-198)caC>caT		keratin associated protein 4-1							30.0	34.0	33.0					17																	39340909		2140	4267	6407	SO:0001819	synonymous_variant	85285					keratin filament		g.chr17:39340909G>A	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.198C>T	17.37:g.39340909G>A							p.H66H			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	685	-		Breast(137;0.000496)	66		H -> R (in dbSNP:rs2320231).	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		A8MWS7|Q3SYF2	Silent	SNP	ENST00000398472.1	37	c.198C>T																																																																																					0.637	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		51	27	0	0	0	1	0	51	27				
DNAH6	1768	broad.mit.edu	37	2	84785008	84785008	+	Silent	SNP	A	A	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:84785008A>C	ENST00000237449.6	+	10	1760	c.1752A>C	c.(1750-1752)gcA>gcC	p.A584A	DNAH6_ENST00000398278.2_Silent_p.A584A|DNAH6_ENST00000389394.3_Silent_p.A584A			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	584	Stem. {ECO:0000250}.				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(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CAAGTTTAGCAGCAGTATTTG	0.328																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(1750-1752)gcA>gcC		dynein, axonemal, heavy chain 6							83.0	82.0	83.0					2																	84785008		2203	4300	6503	SO:0001819	synonymous_variant	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84785008A>C	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1752A>C	2.37:g.84785008A>C						DNAH6_ENST00000237449.6_Silent_p.A584A|DNAH6_ENST00000398278.2_Silent_p.A584A	p.A584A	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			11	1889	+			584			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	ENST00000237449.6	37	c.1752A>C	CCDS46348.1																																																																																				0.328	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		11	69	0	0	0	1	0	11	69				
DENND1B	163486	broad.mit.edu	37	1	197643257	197643257	+	Missense_Mutation	SNP	C	C	T	rs201455013		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:197643257C>T	ENST00000367396.3	-	4	338	c.169G>A	c.(169-171)Gtt>Att	p.V57I	DENND1B_ENST00000235453.4_Missense_Mutation_p.V47I|DENND1B_ENST00000400967.2_Missense_Mutation_p.V47I	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	57	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TACCTTTCAACGTCAAAGGGA	0.264													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16334	0.0		0.0	False		,,,				2504	0.0					ENST00000235453.4																			0				NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						c.(139-141)Gtt>Att		DENN/MADD domain containing 1B							36.0	35.0	35.0					1																	197643257		1790	4047	5837	SO:0001583	missense	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197643257C>T	BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.169G>A	1.37:g.197643257C>T	ENSP00000356366:p.Val57Ile					DENND1B_ENST00000367396.3_Missense_Mutation_p.V57I|DENND1B_ENST00000400967.2_Missense_Mutation_p.V47I	p.V47I			Q6P3S1	DEN1B_HUMAN			5	416	-			57			UDENN.		B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Missense_Mutation	SNP	ENST00000367396.3	37	c.139G>A	CCDS41452.2	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	2	0.0034965034965034965	0	0.0	C	11.11	1.543571	0.27563	.	.	ENSG00000213047	ENST00000542760;ENST00000450419;ENST00000235453;ENST00000367396;ENST00000400967;ENST00000422998	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	6.03	-0.386	0.12466	uDENN (3);	0.282354	0.27060	N	0.021122	T	0.23014	0.0556	N	0.20766	0.605	0.32862	D	0.50806	B;B;B	0.13145	0.002;0.007;0.001	B;B;B	0.15484	0.005;0.013;0.001	T	0.28713	-1.0035	10	0.16420	T	0.52	-8.7504	10.7756	0.46348	0.0:0.3304:0.0:0.6696	.	57;57;47	Q6P3S1-5;Q6P3S1;Q6P3S1-4	.;DEN1B_HUMAN;.	I	57;57;47;57;47;21	ENSP00000235453:V47I;ENSP00000356366:V57I;ENSP00000383751:V47I;ENSP00000410025:V21I	ENSP00000235453:V47I	V	-	1	0	DENND1B	195909880	0.701000	0.27806	0.998000	0.56505	0.996000	0.88848	-0.144000	0.10280	0.022000	0.15160	0.655000	0.94253	GTT		0.264	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086539.1	NM_144977		10	10	0	0	0	1	0	10	10				
ZNF331	55422	broad.mit.edu	37	19	54081126	54081126	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:54081126T>A	ENST00000253144.9	+	7	2645	c.1312T>A	c.(1312-1314)Tcc>Acc	p.S438T	ZNF331_ENST00000411977.2_Missense_Mutation_p.S438T|ZNF331_ENST00000513999.1_Missense_Mutation_p.S438T|ZNF331_ENST00000449416.1_Missense_Mutation_p.S438T|ZNF331_ENST00000511593.2_Missense_Mutation_p.S438T|ZNF331_ENST00000511154.1_Missense_Mutation_p.S438T|ZNF331_ENST00000512387.1_Missense_Mutation_p.S438T	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGGGGCGAAATCCTACGAATG	0.488			T	?	follicular thyroid adenoma																																	ENST00000253144.9				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(1312-1314)Tcc>Acc		zinc finger protein 331							80.0	67.0	71.0					19																	54081126		2203	4300	6503	SO:0001583	missense	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54081126T>A	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.1312T>A	19.37:g.54081126T>A	ENSP00000253144:p.Ser438Thr					ZNF331_ENST00000511593.2_Missense_Mutation_p.S438T|ZNF331_ENST00000511154.1_Missense_Mutation_p.S438T|ZNF331_ENST00000411977.2_Missense_Mutation_p.S438T|ZNF331_ENST00000513999.1_Missense_Mutation_p.S438T|ZNF331_ENST00000512387.1_Missense_Mutation_p.S438T|ZNF331_ENST00000449416.1_Missense_Mutation_p.S438T	p.S438T	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	2645	+			438					Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.1312T>A	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.854930	0.32791	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23;2.23	3.58	-0.18	0.13295	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.859914	0.09463	N	0.798741	T	0.10252	0.0251	N	0.17922	0.545	0.09310	N	1	B	0.17465	0.022	B	0.20767	0.031	T	0.35649	-0.9780	10	0.87932	D	0	.	4.1913	0.10422	0.0:0.5414:0.1916:0.267	.	438	Q9NQX6	ZN331_HUMAN	T	438	ENSP00000253144:S438T;ENSP00000427439:S438T;ENSP00000393817:S438T;ENSP00000393336:S438T;ENSP00000421014:S438T;ENSP00000423156:S438T;ENSP00000421728:S438T	ENSP00000253144:S438T	S	+	1	0	ZNF331	58772938	0.005000	0.15991	0.000000	0.03702	0.031000	0.12232	1.120000	0.31271	-0.068000	0.12953	0.533000	0.62120	TCC		0.488	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		19	17	0	0	0	1	0	19	17				
PLXNA4	91584	broad.mit.edu	37	7	131830041	131830041	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:131830041G>T	ENST00000359827.3	-	29	6024	c.5062C>A	c.(5062-5064)Ctg>Atg	p.L1688M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1688M			Q9HCM2	PLXA4_HUMAN	plexin A4	1688					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)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AACTTCTGCAGTGTGCCCTGG	0.547																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(5062-5064)Ctg>Atg		plexin A4							83.0	80.0	81.0					7																	131830041		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131830041G>T	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.5062C>A	7.37:g.131830041G>T	ENSP00000352882:p.Leu1688Met					PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1688M	p.L1688M			Q9HCM2	PLXA4_HUMAN			29	6024	-			1688					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.5062C>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408370	0.62399	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.49139	0.79;0.79	5.05	4.17	0.49024	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000002	T	0.71169	0.3308	M	0.91561	3.22	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.74375	-0.3686	10	0.87932	D	0	.	7.9052	0.29757	0.2526:0.0:0.7474:0.0	.	1688	Q9HCM2	PLXA4_HUMAN	M	1688	ENSP00000323194:L1688M;ENSP00000352882:L1688M	ENSP00000323194:L1688M	L	-	1	2	PLXNA4	131480581	0.988000	0.35896	0.999000	0.59377	0.986000	0.74619	2.088000	0.41663	1.117000	0.41842	0.561000	0.74099	CTG		0.547	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		16	34	1	0	9.16793e-09	1	1.00321e-08	16	34				
HOOK1	51361	broad.mit.edu	37	1	60287595	60287595	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:60287595G>A	ENST00000371208.3	+	2	386	c.129G>A	c.(127-129)atG>atA	p.M43I	HOOK1_ENST00000395561.2_Start_Codon_SNP_p.M1I|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	43	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GAGTTGCCATGGCACAAGTTC	0.403																																						ENST00000371208.3																			0				biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29						c.(127-129)atG>atA		hook microtubule-tethering protein 1							130.0	113.0	119.0					1																	60287595		2203	4300	6503	SO:0001583	missense	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60287595G>A	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.129G>A	1.37:g.60287595G>A	ENSP00000360252:p.Met43Ile					HOOK1_ENST00000395561.2_Start_Codon_SNP_p.M1I|HOOK1_ENST00000465876.1_3'UTR	p.M43I	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN			2	386	+	all_cancers(7;0.000129)		43			Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	c.129G>A	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354523	0.41700	.	.	ENSG00000134709	ENST00000455990;ENST00000371208;ENST00000395561	T;T;T	0.38887	1.11;1.11;1.11	5.77	5.77	0.91146	.	0.071241	0.85682	D	0.000000	T	0.35068	0.0919	L	0.29908	0.895	0.80722	D	1	B	0.10296	0.003	B	0.20184	0.028	T	0.05818	-1.0862	10	0.32370	T	0.25	.	16.9051	0.86124	0.0:0.0:1.0:0.0	.	43	Q9UJC3	HOOK1_HUMAN	I	43;43;1	ENSP00000398860:M43I;ENSP00000360252:M43I;ENSP00000378928:M1I	ENSP00000360252:M43I	M	+	3	0	HOOK1	60060183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.370000	0.66144	2.717000	0.92951	0.650000	0.86243	ATG		0.403	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		18	29	0	0	0	1	0	18	29				
CENPJ	55835	broad.mit.edu	37	13	25480447	25480447	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:25480447C>T	ENST00000381884.4	-	7	1914	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	CENPJ_ENST00000545981.1_Missense_Mutation_p.E577K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	577					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AACAAAAATTCATCTAATTCC	0.343																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1729-1731)Gaa>Aaa		centromere protein J							47.0	53.0	51.0					13																	25480447		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25480447C>T	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1729G>A	13.37:g.25480447C>T	ENSP00000371308:p.Glu577Lys					CENPJ_ENST00000545981.1_Missense_Mutation_p.E577K	p.E577K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	7	1914	-		Lung SC(185;0.0225)|Breast(139;0.0602)	577					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.1729G>A	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897115	0.91962	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.71341	-0.56;-0.04	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.85150	0.5631	M	0.78637	2.42	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	D	0.84442	0.0583	10	0.51188	T	0.08	.	19.3381	0.94329	0.0:1.0:0.0:0.0	.	577	Q9HC77	CENPJ_HUMAN	K	577	ENSP00000371308:E577K;ENSP00000441090:E577K	ENSP00000371308:E577K	E	-	1	0	CENPJ	24378447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.101000	0.76997	2.854000	0.98071	0.655000	0.94253	GAA		0.343	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		10	32	0	0	0	1	0	10	32				
RUNDC3B	154661	broad.mit.edu	37	7	87399965	87399965	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:87399965C>T	ENST00000338056.3	+	8	1160	c.749C>T	c.(748-750)aCt>aTt	p.T250I	RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.T233I|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.T233I	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	250										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					GAAAGCAGTACTCCAGAGAAT	0.413																																						ENST00000338056.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26						c.(748-750)aCt>aTt		RUN domain containing 3B							78.0	64.0	69.0					7																	87399965		2203	4300	6503	SO:0001583	missense	154661							g.chr7:87399965C>T		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.749C>T	7.37:g.87399965C>T	ENSP00000337732:p.Thr250Ile					RUNDC3B_ENST00000493037.1_Missense_Mutation_p.T233I|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.T233I|RUNDC3B_ENST00000496000.1_3'UTR	p.T250I	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN			8	1160	+	Esophageal squamous(14;0.00164)		250					B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	c.749C>T	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528730	0.64860	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.41065	1.01;1.01;1.01	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.57858	0.2082	L	0.40543	1.245	0.80722	D	1	D;D;D;D;B	0.76494	0.999;0.999;0.986;0.998;0.093	D;D;P;D;B	0.78314	0.991;0.991;0.886;0.943;0.05	T	0.51356	-0.8716	10	0.36615	T	0.2	-17.231	19.8077	0.96536	0.0:1.0:0.0:0.0	.	233;233;155;233;250	E9PBR4;B4DFD0;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;.;RUN3B_HUMAN	I	250;233;233	ENSP00000337732:T250I;ENSP00000420394:T233I;ENSP00000378149:T233I	ENSP00000337732:T250I	T	+	2	0	RUNDC3B	87237901	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.322000	0.79097	2.661000	0.90470	0.650000	0.86243	ACT		0.413	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		15	33	0	0	0	1	0	15	33				
NDST4	64579	broad.mit.edu	37	4	115749064	115749064	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:115749064delG	ENST00000264363.2	-	14	3205	c.2527delC	c.(2527-2529)cgafs	p.R843fs		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	843	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTATGATCTCGGTAGTAATTA	0.408																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2527-2529)gafs		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							97.0	94.0	95.0					4																	115749064		2203	4300	6503	SO:0001589	frameshift_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115749064delG	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2527delC	4.37:g.115749064delG	ENSP00000264363:p.Arg843fs						p.R843fs	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	14	3205	-		Ovarian(17;0.156)	843			Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Frame_Shift_Del	DEL	ENST00000264363.2	37	c.2527delC	CCDS3706.1																																																																																				0.408	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		30	17						30	17	---	---	---	---
CARD6	84674	broad.mit.edu	37	5	40843385	40843406	+	Frame_Shift_Del	DEL	CACTTGGATTTGGAAACCTCTG	CACTTGGATTTGGAAACCTCTG	-	rs373278813		TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:40843385_40843406delCACTTGGATTTGGAAACCTCTG	ENST00000254691.5	+	2	614_635	c.415_436delCACTTGGATTTGGAAACCTCTG	c.(415-438)cacttggatttggaaacctctgagfs	p.HLDLETSE139fs	CARD6_ENST00000381677.3_Frame_Shift_Del_p.HLDLETSE139fs	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	139					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGAGAAGGAACACTTGGATTTGGAAACCTCTGAGTTTTTCAG	0.414																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(415-438)agfs		caspase recruitment domain family, member 6																																				SO:0001589	frameshift_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40843385_40843406delCACTTGGATTTGGAAACCTCTG	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.415_436delCACTTGGATTTGGAAACCTCTG	5.37:g.40843385_40843406delCACTTGGATTTGGAAACCTCTG	ENSP00000254691:p.His139fs					CARD6_ENST00000381677.3_Frame_Shift_Del_p.HLDLETSE139fs	p.HLDLETSE139fs	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			2	614_635	+			139					Q52LR2	Frame_Shift_Del	DEL	ENST00000254691.5	37	c.415_436delCACTTGGATTTGGAAACCTCTG	CCDS3935.1																																																																																				0.414	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			20	51						20	51	---	---	---	---
LINC01239	441389	broad.mit.edu	37	9	22823432	22823432	+	lincRNA	DEL	C	C	-			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:22823432delC	ENST00000436786.1	+	0	1567					NR_038977.1																						acctactacgccccaattcag	0.552																																						ENST00000436786.1																			0																																																			441389							g.chr9:22823432delC																													9.37:g.22823432delC								NR_038977.1						0	1567	+									RNA	DEL	ENST00000436786.1	37																																																																																						0.552	RP11-399D6.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000051938.1			2	4						2	4	---	---	---	---
FADS3	3995	broad.mit.edu	37	11	61658680	61658681	+	Frame_Shift_Ins	INS	-	-	C			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:61658680_61658681insC	ENST00000278829.2	-	1	325_326	c.173_174insG	c.(172-174)ggcfs	p.G58fs	FADS3_ENST00000540820.1_Frame_Shift_Ins_p.G58fs|FADS3_ENST00000527697.1_Intron|FADS3_ENST00000525588.1_Frame_Shift_Ins_p.G58fs|FADS3_ENST00000529525.1_5'UTR	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	58	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGAGGCGGCTGCCCCCTGGGTG	0.708																																						ENST00000540820.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(172-174)gagfs		fatty acid desaturase 3																																				SO:0001589	frameshift_variant	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61658680_61658681insC		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.174dupG	11.37:g.61658685_61658685dupC	ENSP00000278829:p.Gly58fs					FADS3_ENST00000278829.2_Frame_Shift_Ins_p.E58fs|FADS3_ENST00000529525.1_5'UTR|FADS3_ENST00000525588.1_Frame_Shift_Ins_p.E58fs|FADS3_ENST00000527697.1_Intron	p.E58fs			Q9Y5Q0	FADS3_HUMAN			1	245_246	-			58			Cytochrome b5 heme-binding.		O60426	Frame_Shift_Ins	INS	ENST00000278829.2	37	c.173_174insG	CCDS8013.1																																																																																				0.708	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			2	4						2	4	---	---	---	---
SIDT2	51092	broad.mit.edu	37	11	117049982	117049982	+	Start_Codon_Del	DEL	G	G	-			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:117049982delG	ENST00000324225.4	+	0	534				SIDT2_ENST00000431081.2_Start_Codon_Del	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2						cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CCGGGGCCATGTTCGCTCTGG	0.697																																						ENST00000324225.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36								SID1 transmembrane family, member 2							54.0	49.0	50.0					11																	117049982		2201	4296	6497	SO:0001582	initiator_codon_variant	51092					integral to membrane|lysosomal membrane		g.chr11:117049982delG	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065		11.37:g.117049982delG						SIDT2_ENST00000431081.2_Start_Codon_Del		NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	0	534	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)						Q8NBY7|Q9Y357	Translation_Start_Site	DEL	ENST00000324225.4	37		CCDS31682.1																																																																																				0.697	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		16	31						16	31	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900938	123900938	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:123900938delA	ENST00000431524.1	+	1	642	c.609delA	c.(607-609)ggafs	p.G203fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGACTGTTGGAATAGTGGCCT	0.537																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(607-609)ggfs		olfactory receptor, family 10, subfamily G, member 8							204.0	179.0	188.0					11																	123900938		2201	4299	6500	SO:0001589	frameshift_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900938delA	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.609delA	11.37:g.123900938delA	ENSP00000389072:p.Gly203fs						p.G203fs	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	642	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	203					B2RNJ3|Q6IEV2	Frame_Shift_Del	DEL	ENST00000431524.1	37	c.609delA	CCDS31704.1																																																																																				0.537	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		25	103						25	103	---	---	---	---
LOC100131347	100131347	broad.mit.edu	37	17	37213529	37213530	+	RNA	INS	-	-	G	rs71141752|rs78181049	byFrequency	TCGA-UF-A71A-06A-11D-A391-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dee232f6-dbeb-468e-b9c2-0cd077a565e6	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:37213529_37213530insG	ENST00000583447.1	+	0	141					NR_036551.1																						AGGACTCttttttttttttttt	0.545													|||unknown(HR)	8	0.00159744	0.0023	0.0014	5008	,	,		15663	0.002		0.002	False		,,,				2504	0.0					ENST00000583447.1																			0																																																			100131347							g.chr17:37213529_37213530insG																													17.37:g.37213529_37213530insG								NR_036551.1						0	141	+									RNA	INS	ENST00000583447.1	37																																																																																						0.545	CTD-2206N4.4-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444106.1			4	3						4	3	---	---	---	---
