#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
KRTAP26-1	388818	broad.mit.edu	37	21	31691743	31691743	+	Missense_Mutation	SNP	C	C	T	rs146155445		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr21:31691743C>T	ENST00000360542.3	-	1	864	c.611G>A	c.(610-612)cGt>cAt	p.R204H		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	204						intermediate filament (GO:0005882)		p.R204H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GCAAGATGGACGACACGTGCT	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		19323	0.001		0.0	False		,,,				2504	0.0					ENST00000360542.3																			1	Substitution - Missense(1)	p.R204H(1)	large_intestine(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(610-612)cGt>cAt		keratin associated protein 26-1							120.0	125.0	123.0					21																	31691743		2203	4300	6503	SO:0001583	missense	388818					intermediate filament		g.chr21:31691743C>T	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.611G>A	21.37:g.31691743C>T	ENSP00000353742:p.Arg204His						p.R204H	NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN			1	864	-			204					B0RZD3	Missense_Mutation	SNP	ENST00000360542.3	37	c.611G>A	CCDS13588.1	.	.	.	.	.	.	.	.	.	.	C	5.013	0.188013	0.09547	.	.	ENSG00000197683	ENST00000360542	T	0.04156	3.69	4.96	-0.0774	0.13719	.	0.275189	0.28521	N	0.015054	T	0.05823	0.0152	L	0.61218	1.895	0.26115	N	0.980634	B	0.25809	0.135	B	0.24394	0.053	T	0.24119	-1.0169	10	0.44086	T	0.13	-8.227	8.4899	0.33093	0.0:0.5785:0.0:0.4215	.	204	Q6PEX3	KR261_HUMAN	H	204	ENSP00000353742:R204H	ENSP00000353742:R204H	R	-	2	0	KRTAP26-1	30613614	0.813000	0.29090	0.104000	0.21259	0.023000	0.10783	-0.293000	0.08320	-0.139000	0.11414	-0.808000	0.03180	CGT		0.488	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		9	109	0	0	0	1	0	9	109				
FUT9	10690	broad.mit.edu	37	6	96652046	96652046	+	Missense_Mutation	SNP	G	G	A	rs201254420		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr6:96652046G>A	ENST00000302103.5	+	3	1341	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	339					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TTTGGCTTGCGATCATGTGAA	0.323													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19468	0.0		0.0	False		,,,				2504	0.0				Melanoma(98;1369 1476 6592 22940 26587)	ENST00000302103.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1015-1017)Gat>Aat		fucosyltransferase 9 (alpha (1,3) fucosyltransferase)							83.0	84.0	83.0					6																	96652046		2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96652046G>A	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.1015G>A	6.37:g.96652046G>A	ENSP00000302599:p.Asp339Asn						p.D339N	NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	1341	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	339					Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.1015G>A	CCDS5033.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.0	4.228784	0.79576	.	.	ENSG00000172461	ENST00000302103	T	0.23754	1.89	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	M	0.66297	2.02	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.04509	-1.0946	10	0.27785	T	0.31	-19.1491	18.3764	0.90437	0.0:0.0:1.0:0.0	.	339	Q9Y231	FUT9_HUMAN	N	339	ENSP00000302599:D339N	ENSP00000302599:D339N	D	+	1	0	FUT9	96758767	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.476000	0.97823	2.586000	0.87340	0.467000	0.42956	GAT		0.323	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		7	71	0	0	0	1	0	7	71				
FAT1	2195	broad.mit.edu	37	4	187518160	187518160	+	Silent	SNP	C	C	G			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr4:187518160C>G	ENST00000441802.2	-	25	12743	c.12534G>C	c.(12532-12534)ggG>ggC	p.G4178G	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4178					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTCCGCCAACCCAATGTTCC	0.522										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(12532-12534)ggG>ggC		FAT atypical cadherin 1							98.0	98.0	98.0					4																	187518160		2016	4184	6200	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187518160C>G	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12534G>C	4.37:g.187518160C>G		HNSCC(5;0.00058)					p.G4178G	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			25	12743	-			4178						Silent	SNP	ENST00000441802.2	37	c.12534G>C	CCDS47177.1																																																																																				0.522	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		13	93	0	0	0	1	0	13	93				
DARS	1615	broad.mit.edu	37	2	136669047	136669047	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr2:136669047T>C	ENST00000264161.4	-	14	1462	c.1247A>G	c.(1246-1248)tAc>tGc	p.Y416C	DARS_ENST00000537273.1_Missense_Mutation_p.Y316C	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	416					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	GAACATATCGTAAGAGTTGGA	0.373																																						ENST00000264161.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15						c.(1246-1248)tAc>tGc		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						164.0	161.0	162.0					2																	136669047		2203	4300	6503	SO:0001583	missense	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136669047T>C	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.1247A>G	2.37:g.136669047T>C	ENSP00000264161:p.Tyr416Cys					DARS_ENST00000537273.1_Missense_Mutation_p.Y316C	p.Y416C	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	14	1462	-			416					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Missense_Mutation	SNP	ENST00000264161.4	37	c.1247A>G	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.148502	0.78001	.	.	ENSG00000115866	ENST00000264161;ENST00000422708;ENST00000537273	D;D;D	0.82081	-1.57;-1.57;-1.57	5.52	5.52	0.82312	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.93307	0.7867	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94954	0.8102	10	0.87932	D	0	-10.9324	15.6368	0.76961	0.0:0.0:0.0:1.0	.	416	P14868	SYDC_HUMAN	C	416;103;316	ENSP00000264161:Y416C;ENSP00000387508:Y103C;ENSP00000444192:Y316C	ENSP00000264161:Y416C	Y	-	2	0	DARS	136385517	1.000000	0.71417	0.991000	0.47740	0.932000	0.56968	8.015000	0.88690	2.094000	0.63399	0.383000	0.25322	TAC		0.373	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		11	101	0	0	0	1	0	11	101				
FRG1B	284802	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr20:29628282G>A	ENST00000278882.3	+	6	664	c.284G>A	c.(283-285)gGg>gAg	p.G95E	FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)gGg>gAg																																						SO:0001583	missense	284802							g.chr20:29628282G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.284G>A	20.37:g.29628282G>A	ENSP00000278882:p.Gly95Glu					FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E	p.G95E							6	664	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.284G>A		.	.	.	.	.	.	.	.	.	.	g	18.02	3.529440	0.64860	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56103	0.48	2.08	2.08	0.27032	Actin cross-linking (1);	0.051750	0.85682	D	0.000000	T	0.52092	0.1713	.	.	.	0.58432	D	0.999996	B;P	0.39940	0.309;0.696	P;P	0.46543	0.492;0.52	T	0.54221	-0.8326	9	0.45353	T	0.12	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	100;95	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	E	95;100;95	ENSP00000408863:G100E	ENSP00000278882:G95E	G	+	2	0	FRG1B	28241943	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GGG		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	99	0	0	0	1	0	5	99				
DSCAM	1826	broad.mit.edu	37	21	41457657	41457657	+	Missense_Mutation	SNP	C	C	T	rs571178062		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr21:41457657C>T	ENST00000400454.1	-	23	4481	c.4004G>A	c.(4003-4005)cGg>cAg	p.R1335Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1335	Ig-like C2-type 10.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GATGCTCCTCCGCCCATCAAT	0.458													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16947	0.0		0.0	False		,,,				2504	0.0				Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(4003-4005)cGg>cAg		Down syndrome cell adhesion molecule							89.0	83.0	85.0					21																	41457657		1883	4128	6011	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41457657C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4004G>A	21.37:g.41457657C>T	ENSP00000383303:p.Arg1335Gln						p.R1335Q	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			23	4481	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1335			Ig-like C2-type 10.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.4004G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914040	0.72983	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.39787	1.06;1.06	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64746	0.2626	M	0.82630	2.6	0.49213	D	0.999763	D	0.89917	1.0	D	0.70935	0.971	T	0.65878	-0.6061	10	0.41790	T	0.15	.	12.7469	0.57285	0.0:0.9254:0.0:0.0746	.	1335	O60469	DSCAM_HUMAN	Q	1335;1087	ENSP00000383303:R1335Q;ENSP00000385342:R1087Q	ENSP00000383303:R1335Q	R	-	2	0	DSCAM	40379527	0.999000	0.42202	0.997000	0.53966	0.964000	0.63967	3.944000	0.56629	2.581000	0.87130	0.655000	0.94253	CGG		0.458	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		8	63	0	0	0	1	0	8	63				
SLIT3	6586	broad.mit.edu	37	5	168189662	168189662	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:168189662C>T	ENST00000519560.1	-	15	1911	c.1492G>A	c.(1492-1494)Gag>Aag	p.E498K	SLIT3_ENST00000332966.8_Missense_Mutation_p.E498K|SLIT3_ENST00000404867.3_Missense_Mutation_p.E498K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	498	LRRNT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGAAGCACTCGCTGCTGAAC	0.632																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1492-1494)Gag>Aag		slit homolog 3 (Drosophila)							134.0	132.0	133.0					5																	168189662		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168189662C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1492G>A	5.37:g.168189662C>T	ENSP00000430333:p.Glu498Lys					SLIT3_ENST00000404867.3_Missense_Mutation_p.E498K|SLIT3_ENST00000332966.8_Missense_Mutation_p.E498K	p.E498K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	1911	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	498			LRRNT 3.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.1492G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374768	0.61735	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.75938	-0.98;-0.98;-0.97	5.5	3.63	0.41609	.	0.332317	0.35436	N	0.003209	T	0.65913	0.2737	L	0.48642	1.525	0.58432	D	0.999993	B	0.18741	0.03	B	0.13407	0.009	T	0.61242	-0.7102	10	0.59425	D	0.04	.	9.6472	0.39875	0.0:0.6546:0.268:0.0773	.	498	O75094	SLIT3_HUMAN	K	498	ENSP00000430333:E498K;ENSP00000332164:E498K;ENSP00000384890:E498K	ENSP00000332164:E498K	E	-	1	0	SLIT3	168122240	0.997000	0.39634	0.889000	0.34880	0.875000	0.50365	3.497000	0.53295	0.614000	0.30107	0.655000	0.94253	GAG		0.632	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		25	144	0	0	0	1	0	25	144				
PRR23B	389151	broad.mit.edu	37	3	138739005	138739005	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr3:138739005G>A	ENST00000329447.5	-	1	763	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	167										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGTCCATCCGGAGCTCCGGG	0.647																																						ENST00000329447.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(499-501)Cgg>Tgg		proline rich 23B							31.0	39.0	36.0					3																	138739005		2202	4299	6501	SO:0001583	missense	389151							g.chr3:138739005G>A	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.499C>T	3.37:g.138739005G>A	ENSP00000328768:p.Arg167Trp					MRPS22_ENST00000495075.1_Intron	p.R167W	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN			1	763	-			167					B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.499C>T	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367589	0.24771	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.14	-5.57	0.02521	.	1.288490	0.05675	N	0.589327	T	0.13970	0.0338	N	0.04994	-0.135	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.15752	-1.0426	9	0.49607	T	0.09	.	1.1259	0.01735	0.3081:0.1859:0.3438:0.1623	.	167	Q6ZRT6	PR23B_HUMAN	W	167	.	ENSP00000328768:R167W	R	-	1	2	PRR23B	140221695	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.838000	0.04372	-0.926000	0.03770	-0.689000	0.03729	CGG		0.647	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		5	44	0	0	0	1	0	5	44				
FUS	2521	broad.mit.edu	37	16	31202080	31202080	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr16:31202080A>G	ENST00000254108.7	+	13	1415	c.1310A>G	c.(1309-1311)aAc>aGc	p.N437S	FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Missense_Mutation_p.N438S|FUS_ENST00000380244.3_Missense_Mutation_p.N436S	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	437	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GAGAATATGAACTTCTCTTGG	0.498			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	ENST00000254108.7				Dom	yes		16	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""			"""M, L"""	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""		"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	0				breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22						c.(1309-1311)aAc>aGc		fused in sarcoma							69.0	68.0	68.0					16																	31202080		2197	4300	6497	SO:0001583	missense	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31202080A>G	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1310A>G	16.37:g.31202080A>G	ENSP00000254108:p.Asn437Ser					FUS_ENST00000380244.3_Missense_Mutation_p.N436S|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Missense_Mutation_p.N438S	p.N437S	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	13	1415	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	437			Arg/Gly-rich.		Q9H4A8	Missense_Mutation	SNP	ENST00000254108.7	37	c.1310A>G	CCDS10707.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.212460	0.79240	.	.	ENSG00000089280	ENST00000254108;ENST00000394533	D	0.99683	-6.39	5.21	5.21	0.72293	Zinc finger, RanBP2-type (4);	0.050182	0.85682	D	0.000000	D	0.99600	0.9855	H	0.97315	3.98	0.54753	D	0.999989	P;D;P;P;D	0.53151	0.928;0.958;0.948;0.928;0.958	P;P;B;P;P	0.45753	0.492;0.492;0.359;0.492;0.492	D	0.97943	1.0327	10	0.87932	D	0	-8.5106	14.0623	0.64808	1.0:0.0:0.0:0.0	.	437;437;436;211;437	Q8TBR3;Q6IBQ5;P35637-2;Q59H57;P35637	.;.;.;.;FUS_HUMAN	S	437;366	ENSP00000254108:N437S	ENSP00000254108:N437S	N	+	2	0	FUS	31109581	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.864000	0.92294	1.961000	0.56991	0.482000	0.46254	AAC		0.498	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		7	48	0	0	0	1	0	7	48				
RAD50	10111	broad.mit.edu	37	5	131923334	131923334	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:131923334G>T	ENST00000265335.6	+	6	1224	c.837G>T	c.(835-837)aaG>aaT	p.K279N	RAD50_ENST00000378823.3_Missense_Mutation_p.K140N|RAD50_ENST00000487596.1_3'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	279					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATAGCCGAAAGAAGCAAATGG	0.299								Homologous recombination																														ENST00000378823.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(418-420)aaG>aaT	Homologous recombination	RAD50 homolog (S. cerevisiae)							68.0	72.0	70.0					5																	131923334		2203	4299	6502	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131923334G>T	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.837G>T	5.37:g.131923334G>T	ENSP00000265335:p.Lys279Asn					RAD50_ENST00000265335.6_Missense_Mutation_p.K279N|RAD50_ENST00000487596.1_3'UTR	p.K140N	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	1238	+		all_cancers(142;0.0368)|Breast(839;0.198)	279					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.420G>T	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631059	0.67015	.	.	ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394	T;T;T	0.07114	3.31;3.22;3.22	5.77	3.99	0.46301	.	0.043059	0.85682	D	0.000000	T	0.16854	0.0405	M	0.76170	2.325	0.47153	D	0.999333	B	0.34061	0.436	P	0.45449	0.481	T	0.01648	-1.1304	10	0.28530	T	0.3	-5.9588	9.4324	0.38617	0.2154:0.0:0.7846:0.0	.	279	Q92878	RAD50_HUMAN	N	140;279;279	ENSP00000368100:K140N;ENSP00000265335:K279N;ENSP00000400049:K279N	ENSP00000265335:K279N	K	+	3	2	RAD50	131951233	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.916000	0.48813	0.777000	0.33496	0.655000	0.94253	AAG		0.299	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		11	64	1	0	0.010729	1	0.0111625	11	64				
ACAP2	23527	broad.mit.edu	37	3	195015477	195015477	+	Missense_Mutation	SNP	G	G	A	rs139056381	byFrequency	TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr3:195015477G>A	ENST00000326793.6	-	18	1966	c.1736C>T	c.(1735-1737)aCg>aTg	p.T579M		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	579					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GGCTGACACCGTGGAGGGTAA	0.363																																						ENST00000326793.6																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1735-1737)aCg>aTg		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2		G	MET/THR	3,4403	6.2+/-15.9	0,3,2200	87.0	86.0	86.0		1736	4.7	0.9	3	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ACAP2	NM_012287.5	81	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	benign	579/779	195015477	4,13002	2203	4300	6503	SO:0001583	missense	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195015477G>A		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1736C>T	3.37:g.195015477G>A	ENSP00000324287:p.Thr579Met						p.T579M	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN			18	1966	-			579					A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	c.1736C>T	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545014	0.27652	6.81E-4	1.16E-4	ENSG00000114331	ENST00000326793	T	0.48201	0.82	5.67	4.72	0.59763	Ankyrin repeat-containing domain (1);	0.837189	0.11115	N	0.598025	T	0.37046	0.0989	L	0.36672	1.1	0.26162	N	0.979995	P	0.40332	0.713	B	0.35899	0.213	T	0.16571	-1.0398	10	0.45353	T	0.12	.	9.5727	0.39438	0.1726:0.0:0.8274:0.0	.	579	Q15057	ACAP2_HUMAN	M	579	ENSP00000324287:T579M	ENSP00000324287:T579M	T	-	2	0	ACAP2	196496766	0.987000	0.35691	0.911000	0.35937	0.991000	0.79684	1.894000	0.39768	1.268000	0.44264	0.655000	0.94253	ACG		0.363	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		23	76	0	0	0	1	0	23	76				
ENPP7	339221	broad.mit.edu	37	17	77705020	77705020	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr17:77705020G>A	ENST00000328313.5	+	1	340	c.119G>A	c.(118-120)gGc>gAc	p.G40D		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCCTTCGACGGCTTCCGCTGG	0.652																																						ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(118-120)gGc>gAc		ectonucleotide pyrophosphatase/phosphodiesterase 7							48.0	43.0	45.0					17																	77705020		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77705020G>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.119G>A	17.37:g.77705020G>A	ENSP00000332656:p.Gly40Asp						p.G40D	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		1	340	+			40						Missense_Mutation	SNP	ENST00000328313.5	37	c.119G>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989831	0.93106	.	.	ENSG00000182156	ENST00000328313	D	0.86366	-2.11	4.59	4.59	0.56863	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.92851	0.7726	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93777	0.7080	10	0.87932	D	0	-42.3835	17.1799	0.86852	0.0:0.0:1.0:0.0	.	40	Q6UWV6	ENPP7_HUMAN	D	40	ENSP00000332656:G40D	ENSP00000332656:G40D	G	+	2	0	ENPP7	75319615	1.000000	0.71417	0.974000	0.42286	0.854000	0.48673	7.590000	0.82653	2.372000	0.80975	0.561000	0.74099	GGC		0.652	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		4	24	0	0	0	1	0	4	24				
PAPD4	167153	broad.mit.edu	37	5	78919085	78919085	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:78919085G>A	ENST00000296783.3	+	5	537	c.238G>A	c.(238-240)Gat>Aat	p.D80N	PAPD4_ENST00000453514.1_Missense_Mutation_p.D80N|PAPD4_ENST00000428308.2_Missense_Mutation_p.D80N|PAPD4_ENST00000504233.1_Missense_Mutation_p.D80N|PAPD4_ENST00000423041.2_Missense_Mutation_p.D80N			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	80					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)	p.D80N(1)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GAGATTAAGCGATGAAAAAAA	0.343																																						ENST00000453514.1																			1	Substitution - Missense(1)	p.D80N(1)	large_intestine(1)	biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(238-240)Gat>Aat		PAP associated domain containing 4							80.0	74.0	76.0					5																	78919085		2203	4300	6503	SO:0001583	missense	167153				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	g.chr5:78919085G>A	AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.238G>A	5.37:g.78919085G>A	ENSP00000296783:p.Asp80Asn					PAPD4_ENST00000423041.2_Missense_Mutation_p.D80N|PAPD4_ENST00000296783.3_Missense_Mutation_p.D80N|PAPD4_ENST00000504233.1_Missense_Mutation_p.D80N|PAPD4_ENST00000428308.2_Missense_Mutation_p.D80N	p.D80N	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)	4	931	+		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)	80					Q86WZ2|Q8N927	Missense_Mutation	SNP	ENST00000296783.3	37	c.238G>A	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.797026	0.50208	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.83	4.85	0.62838	.	0.489617	0.22606	N	0.057886	T	0.32285	0.0824	N	0.12182	0.205	0.32153	N	0.583938	B;B;B	0.10296	0.002;0.003;0.003	B;B;B	0.04013	0.001;0.001;0.001	T	0.27640	-1.0068	10	0.37606	T	0.19	-15.9872	9.4177	0.38532	0.1268:0.0:0.8732:0.0	.	80;80;80	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	N	80	ENSP00000397563:D80N;ENSP00000393412:D80N;ENSP00000396861:D80N;ENSP00000296783:D80N	ENSP00000296783:D80N	D	+	1	0	PAPD4	78954841	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.403000	0.44530	2.753000	0.94483	0.585000	0.79938	GAT		0.343	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797		7	88	0	0	0	1	0	7	88				
FHOD3	80206	broad.mit.edu	37	18	34081902	34081902	+	Silent	SNP	A	A	G			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr18:34081902A>G	ENST00000359247.4	+	4	345	c.345A>G	c.(343-345)ctA>ctG	p.L115L	FHOD3_ENST00000445677.1_Silent_p.L115L|FHOD3_ENST00000257209.4_Silent_p.L115L|FHOD3_ENST00000590592.1_Silent_p.L115L	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	115	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CAGAAAAACTATACAACTCCA	0.323																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(343-345)ctA>ctG		formin homology 2 domain containing 3							24.0	24.0	24.0					18																	34081902		2200	4300	6500	SO:0001819	synonymous_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34081902A>G	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.345A>G	18.37:g.34081902A>G						FHOD3_ENST00000445677.1_Silent_p.L115L|FHOD3_ENST00000590592.1_Silent_p.L115L|FHOD3_ENST00000359247.4_Silent_p.L115L	p.L115L	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			4	467	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	115			GBD/FH3.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Silent	SNP	ENST00000359247.4	37	c.345A>G																																																																																					0.323	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		3	39	0	0	0	1	0	3	39				
SLC34A3	142680	broad.mit.edu	37	9	140126191	140126191	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr9:140126191C>T	ENST00000538474.1	+	2	261	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S	SLC34A3_ENST00000361134.2_Missense_Mutation_p.P13S	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	13					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGTCCCCCACCCCACTCTGGA	0.647																																						ENST00000538474.1																			0				kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(37-39)Ccc>Tcc		solute carrier family 34 (type II sodium/phosphate contransporter), member 3							100.0	110.0	107.0					9																	140126191		2203	4300	6503	SO:0001583	missense	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140126191C>T	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.37C>T	9.37:g.140126191C>T	ENSP00000442397:p.Pro13Ser					SLC34A3_ENST00000361134.2_Missense_Mutation_p.P13S	p.P13S	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	2	261	+	all_cancers(76;0.0926)		13					A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	37	c.37C>T	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	c	9.420	1.082786	0.20309	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	T;T	0.30981	1.51;1.51	3.54	0.512	0.16994	.	.	.	.	.	T	0.18002	0.0432	L	0.40543	1.245	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.34576	-0.9823	9	0.09338	T	0.73	-2.4623	3.6445	0.08180	0.0:0.5467:0.2102:0.2431	.	13	Q8N130	NPT2C_HUMAN	S	13	ENSP00000442397:P13S;ENSP00000355353:P13S	ENSP00000355353:P13S	P	+	1	0	SLC34A3	139246012	0.000000	0.05858	0.001000	0.08648	0.109000	0.19521	-0.294000	0.08309	-0.004000	0.14419	0.306000	0.20318	CCC		0.647	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		8	93	0	0	0	1	0	8	93				
ZNF681	148213	broad.mit.edu	37	19	23928041	23928041	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr19:23928041C>A	ENST00000402377.3	-	4	452	c.311G>T	c.(310-312)gGa>gTa	p.G104V	ZNF681_ENST00000395385.3_Missense_Mutation_p.G35V	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	104					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTCACATTTTCCATATCTTCT	0.338																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(310-312)gGa>gTa		zinc finger protein 681							47.0	44.0	45.0					19																	23928041		2203	4297	6500	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23928041C>A	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.311G>T	19.37:g.23928041C>A	ENSP00000384000:p.Gly104Val					ZNF681_ENST00000395385.3_Missense_Mutation_p.G35V	p.G104V	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	452	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	104					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.311G>T	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	4.369	0.067972	0.08436	.	.	ENSG00000196172	ENST00000402377;ENST00000395385;ENST00000528059;ENST00000531570	T;T;T;T	0.09255	3.22;3.0;6.05;6.35	0.86	-1.72	0.08107	.	.	.	.	.	T	0.17577	0.0422	M	0.83603	2.65	0.21290	N	0.999734	P	0.40302	0.712	P	0.46320	0.512	T	0.12243	-1.0555	9	0.33940	T	0.23	.	4.6749	0.12706	0.0:0.5932:0.4068:0.0	.	104	Q96N22	ZN681_HUMAN	V	104;35;35;35	ENSP00000384000:G104V;ENSP00000378783:G35V;ENSP00000433806:G35V;ENSP00000435824:G35V	ENSP00000378783:G35V	G	-	2	0	ZNF681	23719881	0.001000	0.12720	0.008000	0.14137	0.008000	0.06430	0.203000	0.17315	-0.712000	0.04988	-0.702000	0.03669	GGA		0.338	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		6	36	1	0	2.0095e-06	1	2.2019e-06	6	36				
TRIP12	9320	broad.mit.edu	37	2	230705568	230705568	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr2:230705568T>C	ENST00000283943.5	-	4	1155	c.977A>G	c.(976-978)cAa>cGa	p.Q326R	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000409677.1_Missense_Mutation_p.Q368R|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q368R	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	326					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CGTGGTCTTTTGGCGTGTGCT	0.403																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(976-978)cAa>cGa		thyroid hormone receptor interactor 12							43.0	43.0	43.0					2																	230705568		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230705568T>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.977A>G	2.37:g.230705568T>C	ENSP00000283943:p.Gln326Arg					TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q368R|TRIP12_ENST00000409677.1_Missense_Mutation_p.Q368R	p.Q326R	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	4	1155	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	326					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.977A>G	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.957368	0.53400	.	.	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000409677;ENST00000453485	T;T	0.44881	0.93;0.91	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	N	0.24115	0.695	0.80722	D	1	P;P;P	0.45126	0.851;0.851;0.851	P;P;P	0.58391	0.838;0.838;0.838	T	0.32955	-0.9887	10	0.27082	T	0.32	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	326;368;326	D4HL82;Q14CA3;Q14669	.;.;TRIPC_HUMAN	R	326;368;368;167	ENSP00000283943:Q326R;ENSP00000373696:Q368R	ENSP00000283943:Q326R	Q	-	2	0	TRIP12	230413812	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.371000	0.80710	0.533000	0.62120	CAA		0.403	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		6	39	0	0	0	1	0	6	39				
TXNRD3NB	645840	broad.mit.edu	37	3	126291181	126291181	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr3:126291181A>T	ENST00000404489.2	-	1	298	c.206T>A	c.(205-207)cTg>cAg	p.L69Q	TXNRD3NB_ENST00000383572.2_Missense_Mutation_p.L69Q			Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	69										endometrium(1)|large_intestine(2)|skin(2)	5						ggAGATCTTCAGTAGTCTCTT	0.547																																						ENST00000383572.2																			0				endometrium(1)|large_intestine(2)|skin(2)	5						c.(205-207)cTg>cAg		thioredoxin reductase 3 neighbor							59.0	62.0	61.0					3																	126291181		2203	4300	6503	SO:0001583	missense	645840							g.chr3:126291181A>T	BC130546	CCDS33846.1	3q21.3	2011-04-13	2011-04-13	2011-04-13	ENSG00000206483	ENSG00000206483			33870	protein-coding gene	gene with protein product	"""thioredoxin reductase 3 new transcript 1"""		"""thioredoxin reductase 3 intronic transcript 1"""	TXNRD3IT1		15674732	Standard	NM_001039783		Approved	TR2IT1, TXNRD3NT1	uc003ejc.3	Q6F5E7	OTTHUMG00000162732	ENST00000404489.2:c.206T>A	3.37:g.126291181A>T	ENSP00000384071:p.Leu69Gln					TXNRD3NB_ENST00000404489.2_Missense_Mutation_p.L69Q	p.L69Q	NM_001039783.1	NP_001034872.1	Q6F5E7	TR3N_HUMAN			3	684	-			69						Missense_Mutation	SNP	ENST00000404489.2	37	c.206T>A	CCDS33846.1	.	.	.	.	.	.	.	.	.	.	A	1.651	-0.513963	0.04200	.	.	ENSG00000206483	ENST00000383572;ENST00000404489	.	.	.	0.661	0.661	0.17874	.	.	.	.	.	T	0.18130	0.0435	N	0.08118	0	0.09310	N	1	D	0.55172	0.97	P	0.46629	0.522	T	0.12993	-1.0526	7	0.87932	D	0	.	.	.	.	.	69	Q6F5E7	TR3N_HUMAN	Q	69	.	ENSP00000373066:L69Q	L	-	2	0	TXNRD3NB	127773871	0.001000	0.12720	0.019000	0.16419	0.045000	0.14185	0.892000	0.28322	0.536000	0.28733	0.383000	0.25322	CTG		0.547	TXNRD3NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370233.2	NM_001039783		5	82	0	0	0	1	0	5	82				
ZNHIT6	54680	broad.mit.edu	37	1	86146538	86146538	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:86146538C>A	ENST00000370574.3	-	6	1202	c.1069G>T	c.(1069-1071)Gct>Tct	p.A357S	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.A318S			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	357					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ATGTACTCAGCTTGACTTTGA	0.323																																						ENST00000431532.2																			0				autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						c.(952-954)Gct>Tct		zinc finger, HIT-type containing 6							96.0	95.0	95.0					1																	86146538		2203	4297	6500	SO:0001583	missense	54680				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	g.chr1:86146538C>A	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.1069G>T	1.37:g.86146538C>A	ENSP00000359606:p.Ala357Ser					ZNHIT6_ENST00000370574.3_Missense_Mutation_p.A357S	p.A318S	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN			7	1100	-			357					B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	c.952G>T	CCDS707.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346508	0.61073	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.49720	0.82;0.77	5.49	5.49	0.81192	.	0.119181	0.56097	D	0.000027	T	0.50701	0.1631	L	0.56769	1.78	0.49687	D	0.99981	P;D	0.60575	0.706;0.988	B;P	0.55260	0.267;0.772	T	0.43310	-0.9399	10	0.37606	T	0.19	-4.1759	18.1531	0.89682	0.0:1.0:0.0:0.0	.	318;357	B4DP13;Q9NWK9	.;BCD1_HUMAN	S	318;357	ENSP00000414344:A318S;ENSP00000359606:A357S	ENSP00000359606:A357S	A	-	1	0	ZNHIT6	85919126	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.430000	0.52807	2.577000	0.86979	0.655000	0.94253	GCT		0.323	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		3	32	1	0	0.004672	1	0.00491037	3	32				
MTMR4	9110	broad.mit.edu	37	17	56581672	56581672	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr17:56581672C>T	ENST00000323456.5	-	13	1601	c.1477G>A	c.(1477-1479)Gca>Aca	p.A493T	MTMR4_ENST00000579925.1_Missense_Mutation_p.A493T	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	493	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCAGGAATGCTTCATTAAAT	0.507																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(1477-1479)Gca>Aca		myotubularin related protein 4							88.0	91.0	90.0					17																	56581672		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56581672C>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1477G>A	17.37:g.56581672C>T	ENSP00000325285:p.Ala493Thr					MTMR4_ENST00000579925.1_Missense_Mutation_p.A493T	p.A493T	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			13	1601	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		493			Myotubularin phosphatase.		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.1477G>A	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	31	5.086394	0.94100	.	.	ENSG00000108389	ENST00000323456	D	0.92699	-3.09	5.1	5.1	0.69264	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	L	0.42581	1.335	0.80722	D	1	D	0.56035	0.974	P	0.55615	0.78	D	0.92301	0.5849	10	0.42905	T	0.14	.	17.6896	0.88266	0.0:1.0:0.0:0.0	.	493	Q9NYA4	MTMR4_HUMAN	T	493	ENSP00000325285:A493T	ENSP00000325285:A493T	A	-	1	0	MTMR4	53936671	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.278000	0.78587	2.650000	0.89964	0.467000	0.42956	GCA		0.507	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		17	109	0	0	0	1	0	17	109				
UGT3A1	133688	broad.mit.edu	37	5	35957502	35957502	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:35957502G>C	ENST00000274278.3	-	5	1220	c.863C>G	c.(862-864)gCc>gGc	p.A288G	UGT3A1_ENST00000503189.1_Missense_Mutation_p.A288G|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A254G	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	288						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCCAAAGTTGGCAATGAAGTT	0.468																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(862-864)gCc>gGc		UDP glycosyltransferase 3 family, polypeptide A1							73.0	64.0	67.0					5																	35957502		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35957502G>C		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.863C>G	5.37:g.35957502G>C	ENSP00000274278:p.Ala288Gly					UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A254G|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A288G	p.A288G	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	1220	-	all_lung(31;0.000197)		288					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.863C>G	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	11.47	1.647249	0.29246	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	T;T;T	0.61510	0.1;0.1;0.1	3.28	3.28	0.37604	.	0.356115	0.24973	N	0.034135	T	0.58452	0.2123	L	0.47716	1.5	0.27589	N	0.949325	P;P;P	0.52170	0.951;0.741;0.605	P;B;B	0.51974	0.686;0.309;0.309	T	0.54563	-0.8275	10	0.66056	D	0.02	.	10.3052	0.43676	0.0:0.0:0.802:0.198	.	254;288;288	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	G	288;288;254	ENSP00000274278:A288G;ENSP00000427079:A288G;ENSP00000426100:A254G	ENSP00000274278:A288G	A	-	2	0	UGT3A1	35993259	0.985000	0.35326	0.241000	0.24154	0.334000	0.28698	2.395000	0.44459	1.751000	0.51876	0.467000	0.42956	GCC		0.468	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		4	33	0	0	0	1	0	4	33				
KMT2A	4297	broad.mit.edu	37	11	118371736	118371736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr11:118371736C>T	ENST00000389506.5	+	25	6184	c.6184C>T	c.(6184-6186)Cgc>Tgc	p.R2062C	KMT2A_ENST00000534358.1_Missense_Mutation_p.R2065C|KMT2A_ENST00000354520.4_Missense_Mutation_p.R2024C			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2062	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CACAGATGCTCGCAAGCGCTG	0.458																																						ENST00000534358.1																			0											c.(6193-6195)Cgc>Tgc		lysine (K)-specific methyltransferase 2A							117.0	97.0	103.0					11																	118371736		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118371736C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6184C>T	11.37:g.118371736C>T	ENSP00000374157:p.Arg2062Cys					KMT2A_ENST00000389506.5_Missense_Mutation_p.R2062C|KMT2A_ENST00000354520.4_Missense_Mutation_p.R2024C	p.R2065C	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					25	6216	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.6193C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832192	0.71258	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.78816	-1.21;-1.21;-1.21	5.62	5.62	0.85841	FY-rich, N-terminal (1);FY-rich, N-terminal subgroup (1);	0.000000	0.85682	D	0.000000	D	0.88085	0.6342	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89000	0.3421	10	0.72032	D	0.01	.	16.0037	0.80327	0.1349:0.8651:0.0:0.0	.	2065;2062	E9PQG7;Q03164	.;MLL1_HUMAN	C	2065;2062;2024;972	ENSP00000436786:R2065C;ENSP00000374157:R2062C;ENSP00000346516:R2024C	ENSP00000346516:R2024C	R	+	1	0	MLL	117876946	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.049000	0.57397	2.640000	0.89533	0.591000	0.81541	CGC		0.458	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		12	70	0	0	0	1	0	12	70				
ATG4D	84971	broad.mit.edu	37	19	10663588	10663588	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr19:10663588C>T	ENST00000309469.4	+	10	1443	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W	RNU7-140P_ENST00000459546.1_RNA|MIR1238_ENST00000408483.1_RNA|ATG4D_ENST00000540862.1_Missense_Mutation_p.R91W	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	424					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AGCCACAGAGCGGTACCCCAT	0.622																																						ENST00000309469.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19						c.(1270-1272)Cgg>Tgg		autophagy related 4D, cysteine peptidase							92.0	81.0	85.0					19																	10663588		2203	4300	6503	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10663588C>T	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.1270C>T	19.37:g.10663588C>T	ENSP00000311318:p.Arg424Trp					ATG4D_ENST00000540862.1_Missense_Mutation_p.R91W	p.R424W	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		10	1443	+			424					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.1270C>T	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966901	0.53507	.	.	ENSG00000130734	ENST00000309469;ENST00000540862	T	0.44083	0.93	5.1	2.81	0.32909	.	0.226336	0.41396	D	0.000883	T	0.54447	0.1859	L	0.51422	1.61	0.42581	D	0.993218	D;D	0.89917	0.999;1.0	P;D	0.68765	0.889;0.96	T	0.58814	-0.7570	10	0.72032	D	0.01	-18.6469	11.9413	0.52903	0.3934:0.6065:0.0:0.0	.	361;424	B4DGM8;Q86TL0	.;ATG4D_HUMAN	W	424;91	ENSP00000311318:R424W	ENSP00000311318:R424W	R	+	1	2	ATG4D	10524588	0.995000	0.38212	0.301000	0.25044	0.259000	0.26198	1.163000	0.31798	1.221000	0.43506	0.591000	0.81541	CGG		0.622	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		10	58	0	0	0	1	0	10	58				
DNAH5	1767	broad.mit.edu	37	5	13714705	13714705	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:13714705C>G	ENST00000265104.4	-	75	13038	c.12934G>C	c.(12934-12936)Gag>Cag	p.E4312Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4312					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCAAACACCTCAGGGCTGTCA	0.512									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(12934-12936)Gag>Cag		dynein, axonemal, heavy chain 5							75.0	63.0	67.0					5																	13714705		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13714705C>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12934G>C	5.37:g.13714705C>G	ENSP00000265104:p.Glu4312Gln						p.E4312Q	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			75	13038	-	Lung NSC(4;0.00476)		4312					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.12934G>C	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125268	0.77436	.	.	ENSG00000039139	ENST00000265104	T	0.09630	2.96	5.22	5.22	0.72569	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.30978	0.0782	M	0.85859	2.78	0.80722	D	1	P	0.47302	0.893	P	0.52957	0.714	T	0.06427	-1.0827	10	0.30854	T	0.27	.	18.7863	0.91955	0.0:1.0:0.0:0.0	.	4312	Q8TE73	DYH5_HUMAN	Q	4312	ENSP00000265104:E4312Q	ENSP00000265104:E4312Q	E	-	1	0	DNAH5	13767705	1.000000	0.71417	0.949000	0.38748	0.797000	0.45037	4.849000	0.62882	2.446000	0.82766	0.655000	0.94253	GAG		0.512	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		8	50	0	0	0	1	0	8	50				
PSD2	84249	broad.mit.edu	37	5	139193838	139193838	+	Missense_Mutation	SNP	C	C	T	rs377562857		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:139193838C>T	ENST00000274710.3	+	4	1110	c.905C>T	c.(904-906)cCt>cTt	p.P302L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	302	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGCAGACCCTCTGGCCAAC	0.642																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(904-906)cCt>cTt		pleckstrin and Sec7 domain containing 2		C	LEU/PRO	0,4406		0,0,2203	73.0	66.0	68.0		905	5.0	0.4	5		68	1,8599		0,1,4299	no	missense	PSD2	NM_032289.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	302/772	139193838	1,13005	2203	4300	6503	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139193838C>T	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.905C>T	5.37:g.139193838C>T	ENSP00000274710:p.Pro302Leu						p.P302L	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1110	+			302			SEC7.		D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.905C>T	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.811865	0.70797	0.0	1.16E-4	ENSG00000146005	ENST00000274710	T	0.11930	2.73	4.98	4.98	0.66077	SEC7-like (3);	0.178220	0.48286	D	0.000184	T	0.12433	0.0302	N	0.17474	0.49	0.53688	D	0.999976	B	0.22080	0.064	B	0.30943	0.122	T	0.15435	-1.0437	10	0.38643	T	0.18	.	18.2511	0.90004	0.0:1.0:0.0:0.0	.	302	Q9BQI7	PSD2_HUMAN	L	302	ENSP00000274710:P302L	ENSP00000274710:P302L	P	+	2	0	PSD2	139174022	0.999000	0.42202	0.431000	0.26735	0.943000	0.58893	5.686000	0.68211	2.296000	0.77279	0.563000	0.77884	CCT		0.642	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		17	86	0	0	0	1	0	17	86				
ZNF483	158399	broad.mit.edu	37	9	114304560	114304560	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr9:114304560G>A	ENST00000309235.5	+	6	1503	c.1345G>A	c.(1345-1347)Ggc>Agc	p.G449S	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AAAAGCCTTTGGCTATAGCGC	0.388																																						ENST00000309235.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						c.(1345-1347)Ggc>Agc		zinc finger protein 483							56.0	60.0	58.0					9																	114304560		2203	4300	6503	SO:0001583	missense	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114304560G>A	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1345G>A	9.37:g.114304560G>A	ENSP00000311679:p.Gly449Ser					ZNF483_ENST00000358151.4_Intron	p.G449S	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN			6	1503	+			449					Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	c.1345G>A	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	4.481	0.089258	0.08632	.	.	ENSG00000173258	ENST00000309235	T	0.07114	3.22	4.54	-1.06	0.10002	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.452270	0.04266	N	0.341220	T	0.02455	0.0075	N	0.01640	-0.785	0.09310	N	0.999999	B	0.14438	0.01	B	0.10450	0.005	T	0.38265	-0.9669	10	0.02654	T	1	0.2633	4.5179	0.11945	0.5153:0.0:0.3224:0.1623	.	449	Q8TF39	ZN483_HUMAN	S	449	ENSP00000311679:G449S	ENSP00000311679:G449S	G	+	1	0	ZNF483	113344381	0.000000	0.05858	0.000000	0.03702	0.555000	0.35460	-0.606000	0.05654	-0.183000	0.10585	-0.145000	0.13849	GGC		0.388	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		8	65	0	0	0	1	0	8	65				
TACC2	10579	broad.mit.edu	37	10	124001517	124001517	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr10:124001517G>A	ENST00000369005.1	+	19	8732		c.e19+1		TACC2_ENST00000369001.1_Splice_Site|TACC2_ENST00000358010.1_Splice_Site|TACC2_ENST00000334433.3_Splice_Site|TACC2_ENST00000360561.3_Splice_Site|TACC2_ENST00000515273.1_Splice_Site|TACC2_ENST00000369004.3_Splice_Site|TACC2_ENST00000368999.1_Splice_Site|TACC2_ENST00000369000.1_Splice_Site|TACC2_ENST00000453444.2_Splice_Site|TACC2_ENST00000260733.3_Splice_Site|TACC2_ENST00000515603.1_Splice_Site|TACC2_ENST00000513429.1_Splice_Site	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2						astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGATGATAGGTAGGTGTCCT	0.507																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.e19+1		transforming, acidic coiled-coil containing protein 2							129.0	124.0	126.0					10																	124001517		2203	4300	6503	SO:0001630	splice_region_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:124001517G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8392+1G>A	10.37:g.124001517G>A						TACC2_ENST00000369000.1_Splice_Site|TACC2_ENST00000515273.1_Splice_Site|TACC2_ENST00000513429.1_Splice_Site|TACC2_ENST00000368999.1_Splice_Site|TACC2_ENST00000334433.3_Splice_Site|TACC2_ENST00000369004.3_Splice_Site|TACC2_ENST00000260733.3_Splice_Site|TACC2_ENST00000358010.1_Splice_Site|TACC2_ENST00000453444.2_Splice_Site|TACC2_ENST00000369001.1_Splice_Site|TACC2_ENST00000360561.3_Splice_Site|TACC2_ENST00000515603.1_Splice_Site		NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			19	8732	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)						Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Splice_Site	SNP	ENST00000369005.1	37		CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216895	0.79352	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000490979	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8173	0.92081	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TACC2	123991507	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.037000	0.93765	2.746000	0.94184	0.655000	0.94253	.		0.507	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		Intron	12	110	0	0	0	1	0	12	110				
TRAFD1	10906	broad.mit.edu	37	12	112586051	112586051	+	Silent	SNP	T	T	C			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr12:112586051T>C	ENST00000257604.5	+	8	1718	c.1101T>C	c.(1099-1101)atT>atC	p.I367I	TRAFD1_ENST00000412615.2_Silent_p.I367I|Y_RNA_ENST00000363265.1_RNA	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	367					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						AGAGCATCATTATCCCATGTG	0.517																																						ENST00000257604.5																			0				kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(1099-1101)atT>atC		TRAF-type zinc finger domain containing 1							157.0	142.0	147.0					12																	112586051		2203	4300	6503	SO:0001819	synonymous_variant	10906				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	g.chr12:112586051T>C	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.1101T>C	12.37:g.112586051T>C						TRAFD1_ENST00000412615.2_Silent_p.I367I	p.I367I	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN			8	1718	+			367					A8K5L6|B4DI89	Silent	SNP	ENST00000257604.5	37	c.1101T>C	CCDS9160.1																																																																																				0.517	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		4	62	0	0	0	1	0	4	62				
DCBLD2	131566	broad.mit.edu	37	3	98530369	98530369	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr3:98530369G>T	ENST00000326840.6	-	11	1755	c.1393C>A	c.(1393-1395)Cct>Act	p.P465T	DCBLD2_ENST00000326857.9_Missense_Mutation_p.P465T	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	465	Poly-Pro.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TTCCGAGGAGGTGGAGGTTGA	0.328																																						ENST00000326840.6																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						c.(1393-1395)Cct>Act		discoidin, CUB and LCCL domain containing 2							172.0	154.0	159.0					3																	98530369		1829	4088	5917	SO:0001583	missense	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98530369G>T		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1393C>A	3.37:g.98530369G>T	ENSP00000321573:p.Pro465Thr					DCBLD2_ENST00000326857.9_Missense_Mutation_p.P465T	p.P465T	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN			11	1755	-			465			Poly-Pro.		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	c.1393C>A	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	G	9.051	0.991996	0.18966	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	D;D	0.89681	-2.55;-2.55	5.4	3.27	0.37495	.	0.928458	0.09179	N	0.837743	D	0.85208	0.5644	L	0.43152	1.355	0.33597	D	0.601825	B;B	0.26845	0.161;0.041	B;B	0.30495	0.116;0.023	D	0.83537	0.0094	10	0.51188	T	0.08	-9.6815	8.4076	0.32625	0.2078:0.0:0.7922:0.0	.	465;465	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	T	465	ENSP00000321573:P465T;ENSP00000321646:P465T	ENSP00000321573:P465T	P	-	1	0	DCBLD2	100013059	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	1.551000	0.36233	1.271000	0.44313	0.655000	0.94253	CCT		0.328	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		12	73	1	0	0.0167234	1	0.0170545	12	73				
FLG	2312	broad.mit.edu	37	1	152278802	152278802	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:152278802A>C	ENST00000368799.1	-	3	8595	c.8560T>G	c.(8560-8562)Tca>Gca	p.S2854A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2854	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCGACCCTGAGTGCCTGGAG	0.572									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(8560-8562)Tca>Gca		filaggrin							386.0	593.0	524.0					1																	152278802		2150	4299	6449	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278802A>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8560T>G	1.37:g.152278802A>C	ENSP00000357789:p.Ser2854Ala					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S2854A	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8595	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2854			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8560T>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	A	9.717	1.158626	0.21454	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.08720	3.06	2.63	-2.65	0.06095	.	.	.	.	.	T	0.03263	0.0095	M	0.76838	2.35	0.09310	N	1	P	0.44946	0.846	B	0.38655	0.278	T	0.30563	-0.9974	9	0.31617	T	0.26	0.115	6.6719	0.23074	0.4451:0.0:0.5549:0.0	.	2854	P20930	FILA_HUMAN	A	2854;116	ENSP00000357789:S2854A	ENSP00000357786:S116A	S	-	1	0	FLG	150545426	0.001000	0.12720	0.000000	0.03702	0.030000	0.12068	-0.204000	0.09425	-0.572000	0.06006	0.254000	0.18369	TCA		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		55	986	0	0	0	1	0	55	986				
LMNA	4000	broad.mit.edu	37	1	156108383	156108383	+	Silent	SNP	C	C	T	rs267607604		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:156108383C>T	ENST00000368300.4	+	11	2015	c.1803C>T	c.(1801-1803)agC>agT	p.S601S	LMNA_ENST00000448611.2_Silent_p.S489S|LMNA_ENST00000347559.2_Silent_p.S571S|LMNA_ENST00000473598.2_Silent_p.S502S|LMNA_ENST00000368299.3_Silent_p.S601S|LMNA_ENST00000496738.1_3'UTR	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	601	Tail.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CATCTGCCAGCGGCTCAGGAG	0.697									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																													ENST00000368300.4																			0				NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10						c.(1801-1803)agC>agT		lamin A/C							18.0	18.0	18.0					1																	156108383		2198	4298	6496	SO:0001819	synonymous_variant	4000	Werner syndrome;Hutchinson-Gilford Progeria Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr1:156108383C>T	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.1803C>T	1.37:g.156108383C>T						LMNA_ENST00000347559.2_Silent_p.S571S|LMNA_ENST00000473598.2_Silent_p.S502S|LMNA_ENST00000448611.2_Silent_p.S489S|LMNA_ENST00000368299.3_Silent_p.S601S|LMNA_ENST00000496738.1_3'UTR	p.S601S	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN			11	2015	+	Hepatocellular(266;0.158)		601			Tail.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Silent	SNP	ENST00000368300.4	37	c.1803C>T	CCDS1129.1																																																																																				0.697	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		5	26	0	0	0	1	0	5	26				
EPHB3	2049	broad.mit.edu	37	3	184297479	184297479	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr3:184297479A>C	ENST00000330394.2	+	11	2381	c.1929A>C	c.(1927-1929)gaA>gaC	p.E643D	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	643	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CTGCAGGGGAATTTGGGGAAG	0.617																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1927-1929)gaA>gaC		EPH receptor B3							59.0	60.0	59.0					3																	184297479		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184297479A>C	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1929A>C	3.37:g.184297479A>C	ENSP00000332118:p.Glu643Asp					EIF2B5_ENST00000444495.1_Intron	p.E643D	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		11	2381	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		643			Protein kinase.		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.1929A>C	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.715803	0.68844	.	.	ENSG00000182580	ENST00000330394	T	0.61980	0.06	4.8	1.93	0.25924	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.057936	0.64402	D	0.000002	T	0.74030	0.3663	M	0.77616	2.38	0.80722	D	1	P	0.52463	0.953	D	0.65233	0.933	T	0.72404	-0.4304	10	0.72032	D	0.01	.	8.3683	0.32399	0.4266:0.0:0.5734:0.0	.	643	P54753	EPHB3_HUMAN	D	643	ENSP00000332118:E643D	ENSP00000332118:E643D	E	+	3	2	EPHB3	185780173	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	3.577000	0.53885	0.160000	0.19432	-0.239000	0.12128	GAA		0.617	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		5	47	0	0	0	1	0	5	47				
USP35	57558	broad.mit.edu	37	11	77916981	77916981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr11:77916981C>T	ENST00000529308.1	+	7	1552	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	USP35_ENST00000441408.2_Silent_p.P15P|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.R162W|USP35_ENST00000530267.1_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	431					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TTTCTATCCCCGGCTCATGGC	0.562																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(1291-1293)Cgg>Tgg		ubiquitin specific peptidase 35							220.0	227.0	225.0					11																	77916981		1992	4150	6142	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77916981C>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1291C>T	11.37:g.77916981C>T	ENSP00000431876:p.Arg431Trp					USP35_ENST00000526425.1_Missense_Mutation_p.R162W|USP35_ENST00000441408.2_Silent_p.P15P|USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_5'UTR	p.R431W	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		7	1552	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		431						Missense_Mutation	SNP	ENST00000529308.1	37	c.1291C>T	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209879	0.58343	.	.	ENSG00000118369	ENST00000528910;ENST00000529308;ENST00000526425	T;T;T	0.16073	2.37;3.27;3.18	4.7	4.7	0.59300	.	0.277746	0.25526	N	0.030062	T	0.34687	0.0906	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.03433	-1.1037	10	0.72032	D	0.01	-36.6649	12.8812	0.58017	0.1626:0.8374:0.0:0.0	.	431	Q9P2H5	UBP35_HUMAN	W	187;431;162	ENSP00000436001:R187W;ENSP00000431876:R431W;ENSP00000434942:R162W	ENSP00000434942:R162W	R	+	1	2	USP35	77594629	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.878000	0.56130	2.432000	0.82394	0.591000	0.81541	CGG		0.562	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		27	261	0	0	0	1	0	27	261				
BANP	54971	broad.mit.edu	37	16	88052251	88052251	+	Silent	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr16:88052251G>A	ENST00000393207.1	+	7	1070	c.849G>A	c.(847-849)ccG>ccA	p.P283P	BANP_ENST00000538234.1_Silent_p.P291P|BANP_ENST00000479780.2_Silent_p.P252P|BANP_ENST00000393208.2_Silent_p.P252P|BANP_ENST00000355163.5_Silent_p.P258P|BANP_ENST00000355022.4_Silent_p.P252P|BANP_ENST00000286122.7_Silent_p.P283P	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	283	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.|Interaction with CUX1 and HDAC1. {ECO:0000250}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		AGCTGGACCCGCTCACCATCT	0.647																																						ENST00000393207.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12						c.(847-849)ccG>ccA		BTG3 associated nuclear protein							26.0	17.0	20.0					16																	88052251		2177	4282	6459	SO:0001819	synonymous_variant	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88052251G>A	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.849G>A	16.37:g.88052251G>A						BANP_ENST00000355022.4_Silent_p.P252P|BANP_ENST00000355163.5_Silent_p.P258P|BANP_ENST00000538234.1_Silent_p.P291P|BANP_ENST00000479780.2_Silent_p.P252P|BANP_ENST00000393208.2_Silent_p.P252P|BANP_ENST00000286122.7_Silent_p.P283P	p.P283P	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	7	1070	+			283			BEN.|Interaction with CUX1 and HDAC1 (By similarity).		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Silent	SNP	ENST00000393207.1	37	c.849G>A	CCDS54054.1																																																																																				0.647	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		3	5	0	0	0	1	0	3	5				
CPSF2	53981	broad.mit.edu	37	14	92625620	92625620	+	Silent	SNP	T	T	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr14:92625620T>A	ENST00000298875.4	+	14	2400	c.2115T>A	c.(2113-2115)ccT>ccA	p.P705P		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	705					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|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)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		CCTTGCCACCTCATGAGGTAA	0.368																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24						c.(2113-2115)ccT>ccA		cleavage and polyadenylation specific factor 2, 100kDa							66.0	68.0	67.0					14																	92625620		2203	4300	6503	SO:0001819	synonymous_variant	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92625620T>A	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.2115T>A	14.37:g.92625620T>A							p.P705P	NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	14	2400	+		all_cancers(154;0.0766)	705					B3KME1|Q6NSJ1|Q9H3W7	Silent	SNP	ENST00000298875.4	37	c.2115T>A	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	T	4.082	0.013171	0.07912	.	.	ENSG00000165934	ENST00000555244	.	.	.	5.08	-6.04	0.02178	.	.	.	.	.	T	0.34571	0.0902	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40232	-0.9574	4	.	.	.	.	0.7099	0.00922	0.2197:0.3004:0.2237:0.2562	.	.	.	.	H	222	.	.	L	+	2	0	CPSF2	91695373	0.000000	0.05858	0.248000	0.24265	0.641000	0.38312	-1.632000	0.02024	-0.952000	0.03649	-0.468000	0.05107	CTC		0.368	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			4	66	0	0	0	1	0	4	66				
PYGM	5837	broad.mit.edu	37	11	64521397	64521397	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr11:64521397G>T	ENST00000164139.3	-	10	1591	c.1193C>A	c.(1192-1194)cCg>cAg	p.P398Q	PYGM_ENST00000462303.1_5'Flank|PYGM_ENST00000377432.3_Missense_Mutation_p.P310Q	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	398					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGGTGCCGCGGCAGCAGCGT	0.652																																						ENST00000164139.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1192-1194)cCg>cAg		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						42.0	39.0	40.0					11																	64521397		2199	4293	6492	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64521397G>T		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1193C>A	11.37:g.64521397G>T	ENSP00000164139:p.Pro398Gln					PYGM_ENST00000377432.3_Missense_Mutation_p.P310Q	p.P398Q	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			10	1591	-			398					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.1193C>A	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833299	0.91036	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.96967	-4.19;-4.19	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000008	D	0.98966	0.9648	H	0.98965	4.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99047	1.0826	10	0.87932	D	0	-30.302	15.7119	0.77635	0.0:0.0:1.0:0.0	.	310;398	A6NDY6;P11217	.;PYGM_HUMAN	Q	310;398;379	ENSP00000366650:P310Q;ENSP00000164139:P398Q	ENSP00000164139:P398Q	P	-	2	0	PYGM	64277973	1.000000	0.71417	0.952000	0.39060	0.842000	0.47809	9.657000	0.98554	2.564000	0.86499	0.561000	0.74099	CCG		0.652	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		3	18	1	0	1	1	1	3	18				
UBR1	197131	broad.mit.edu	37	15	43350570	43350570	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr15:43350570T>C	ENST00000290650.4	-	10	1229	c.1151A>G	c.(1150-1152)tAc>tGc	p.Y384C	UBR1_ENST00000382177.2_Missense_Mutation_p.Y384C	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	384					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GAGTTTTTTGTATTCCATCTC	0.313																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(1150-1152)tAc>tGc		ubiquitin protein ligase E3 component n-recognin 1							31.0	35.0	33.0					15																	43350570		2196	4292	6488	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43350570T>C		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1151A>G	15.37:g.43350570T>C	ENSP00000290650:p.Tyr384Cys					UBR1_ENST00000382177.2_Missense_Mutation_p.Y384C	p.Y384C	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	10	1229	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	384					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.1151A>G	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.271518	0.59649	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.72725	0.14;-0.68	4.73	4.73	0.59995	.	0.061575	0.64402	D	0.000002	T	0.78272	0.4257	L	0.52759	1.655	0.50632	D	0.999883	P;D	0.76494	0.61;0.999	B;D	0.64042	0.165;0.921	T	0.79605	-0.1734	10	0.52906	T	0.07	-2.8949	14.3886	0.66963	0.0:0.0:0.0:1.0	.	384;384	B4DYL2;Q8IWV7	.;UBR1_HUMAN	C	384	ENSP00000290650:Y384C;ENSP00000371612:Y384C	ENSP00000290650:Y384C	Y	-	2	0	UBR1	41137862	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.984000	0.49353	1.976000	0.57569	0.455000	0.32223	TAC		0.313	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		16	106	0	0	0	1	0	16	106				
RNF185	91445	broad.mit.edu	37	22	31597555	31597555	+	Silent	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr22:31597555G>A	ENST00000326132.6	+	6	594	c.435G>A	c.(433-435)ggG>ggA	p.G145G	RNF185_ENST00000426256.2_Silent_p.G83G|RNF185_ENST00000266252.7_Silent_p.G89G	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	145					autophagy (GO:0006914)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						TTCCCTTTGGGATATTTGCCA	0.418																																						ENST00000326132.5																			0				NS(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(433-435)ggG>ggA		ring finger protein 185							117.0	113.0	114.0					22																	31597555		2203	4298	6501	SO:0001819	synonymous_variant	91445					integral to membrane	zinc ion binding	g.chr22:31597555G>A		CCDS13890.1, CCDS46689.1	22q12.2	2013-01-09			ENSG00000138942	ENSG00000138942		"""RING-type (C3HC4) zinc fingers"""	26783	protein-coding gene	gene with protein product	"""hypothetical protein FLJ38628"""					12477932	Standard	NM_152267		Approved	FLJ38628	uc003akb.3	Q96GF1	OTTHUMG00000151253	ENST00000326132.6:c.435G>A	22.37:g.31597555G>A						RNF185_ENST00000426256.2_Silent_p.G83G|RNF185_ENST00000266252.7_Silent_p.G89G	p.G145G	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN			6	594	+			145					A8K5C1|A9X3T8|Q8N900	Silent	SNP	ENST00000326132.6	37	c.435G>A	CCDS13890.1																																																																																				0.418	RNF185-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321927.2	NM_152267		4	161	0	0	0	1	0	4	161				
DDX46	9879	broad.mit.edu	37	5	134120127	134120127	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:134120127T>A	ENST00000354283.4	+	10	1373	c.1238T>A	c.(1237-1239)aTt>aAt	p.I413N	DDX46_ENST00000452510.2_Missense_Mutation_p.I413N|DDX46_ENST00000509178.1_3'UTR			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	413	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGAGATTTGATTGGCATTGCC	0.448																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1237-1239)aTt>aAt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							117.0	117.0	117.0					5																	134120127		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134120127T>A		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.1238T>A	5.37:g.134120127T>A	ENSP00000346236:p.Ile413Asn					DDX46_ENST00000354283.4_Missense_Mutation_p.I413N|DDX46_ENST00000509178.1_3'UTR	p.I413N	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	1396	+			413			Helicase ATP-binding.		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.1238T>A	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.445247	0.83993	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.21361	2.01;2.01	5.93	5.93	0.95920	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59702	0.2213	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72137	-0.4381	10	0.87932	D	0	-18.3537	16.3839	0.83495	0.0:0.0:0.0:1.0	.	413	Q7L014	DDX46_HUMAN	N	413	ENSP00000416534:I413N;ENSP00000346236:I413N	ENSP00000346236:I413N	I	+	2	0	DDX46	134148026	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.027000	0.88791	2.258000	0.74832	0.533000	0.62120	ATT		0.448	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		4	139	0	0	0	1	0	4	139				
COL22A1	169044	broad.mit.edu	37	8	139674288	139674288	+	Silent	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr8:139674288G>A	ENST00000303045.6	-	43	3671	c.3225C>T	c.(3223-3225)ggC>ggT	p.G1075G	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.G1055G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1075	Collagen-like 9.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGCCGGCTGGGCCCTGGGGGC	0.547										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(3223-3225)ggC>ggT		collagen, type XXII, alpha 1							102.0	92.0	95.0					8																	139674288		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139674288G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3225C>T	8.37:g.139674288G>A		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Silent_p.G1055G|COL22A1_ENST00000341807.4_5'UTR	p.G1075G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		43	3671	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1075			Collagen-like 9.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.3225C>T	CCDS6376.1																																																																																				0.547	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		4	86	0	0	0	1	0	4	86				
AMBP	259	broad.mit.edu	37	9	116838907	116838907	+	Silent	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr9:116838907C>T	ENST00000265132.3	-	2	493	c.231G>A	c.(229-231)gcG>gcA	p.A77A		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	77					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGCTGATCTCCGCCTCTGTAG	0.612																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(229-231)gcG>gcA		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						115.0	92.0	100.0					9																	116838907		2203	4300	6503	SO:0001819	synonymous_variant	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116838907C>T	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.231G>A	9.37:g.116838907C>T							p.A77A	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			2	493	-			77					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Silent	SNP	ENST00000265132.3	37	c.231G>A	CCDS6800.1																																																																																				0.612	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		5	50	0	0	0	1	0	5	50				
DSP	1832	broad.mit.edu	37	6	7586031	7586031	+	Missense_Mutation	SNP	C	C	T	rs397516972		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr6:7586031C>T	ENST00000379802.3	+	24	8877	c.8536C>T	c.(8536-8538)Cgg>Tgg	p.R2846W	DSP_ENST00000418664.2_Missense_Mutation_p.R2247W	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2846	6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		cAGTGGGTCCCGGAGAGGAAG	0.577																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(8536-8538)Cgg>Tgg		desmoplakin							65.0	77.0	73.0					6																	7586031		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7586031C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8536C>T	6.37:g.7586031C>T	ENSP00000369129:p.Arg2846Trp					DSP_ENST00000418664.2_Missense_Mutation_p.R2247W	p.R2846W	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8877	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2846			6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.8536C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497841	0.85069	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.78707	-0.94;-1.2	5.05	2.9	0.33743	.	0.000000	0.56097	D	0.000028	T	0.77987	0.4213	L	0.49778	1.585	0.31712	N	0.639378	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.981	T	0.76984	-0.2756	10	0.87932	D	0	.	12.5934	0.56454	0.4174:0.5826:0.0:0.0	.	2294;2846	Q4LE79;P15924	.;DESP_HUMAN	W	2846;2247	ENSP00000369129:R2846W;ENSP00000396591:R2247W	ENSP00000369129:R2846W	R	+	1	2	DSP	7531030	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.632000	0.46511	1.223000	0.43536	0.655000	0.94253	CGG		0.577	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		14	86	0	0	0	1	0	14	86				
SUPT3H	8464	broad.mit.edu	37	6	44971521	44971521	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr6:44971521T>C	ENST00000371459.1	-	6	538	c.373A>G	c.(373-375)Agt>Ggt	p.S125G	SUPT3H_ENST00000371461.2_Missense_Mutation_p.S136G|SUPT3H_ENST00000371460.1_Missense_Mutation_p.S136G|SUPT3H_ENST00000306867.5_Missense_Mutation_p.S125G	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	207				RPLHE -> SLFMR (in Ref. 1; AAC70014). {ECO:0000305}.	chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						TTGCTGCCACTCAATTTGTCT	0.338																																						ENST00000371460.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						c.(406-408)Agt>Ggt		suppressor of Ty 3 homolog (S. cerevisiae)							116.0	103.0	108.0					6																	44971521		2202	4300	6502	SO:0001583	missense	8464				histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	g.chr6:44971521T>C	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.373A>G	6.37:g.44971521T>C	ENSP00000360514:p.Ser125Gly					SUPT3H_ENST00000371459.1_Missense_Mutation_p.S125G|SUPT3H_ENST00000306867.5_Missense_Mutation_p.S125G|SUPT3H_ENST00000371461.2_Missense_Mutation_p.S136G	p.S136G	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN			8	723	-			207					A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371459.1	37	c.406A>G	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210485	0.39102	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000306867;ENST00000371461	T;T;T;T	0.45668	0.89;0.91;0.91;0.89	5.33	4.16	0.48862	.	0.320403	0.40554	N	0.001061	T	0.13415	0.0325	L	0.27053	0.805	0.38648	D	0.951775	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.0	T	0.05733	-1.0867	10	0.21540	T	0.41	.	11.3087	0.49351	0.0:0.0712:0.0:0.9288	.	136;207	O75486-3;O75486	.;SUPT3_HUMAN	G	136;125;125;136	ENSP00000360515:S136G;ENSP00000360514:S125G;ENSP00000306718:S125G;ENSP00000360516:S136G	ENSP00000306718:S125G	S	-	1	0	SUPT3H	45079499	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.164000	0.50770	1.033000	0.39918	0.528000	0.53228	AGT		0.338	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356		8	66	0	0	0	1	0	8	66				
SMDT1	91689	broad.mit.edu	37	22	42477982	42477982	+	Silent	SNP	C	C	T	rs143702734	byFrequency	TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr22:42477982C>T	ENST00000331479.3	+	2	314	c.240C>T	c.(238-240)gtC>gtT	p.V80V		NM_033318.4	NP_201575.3	Q9H4I9	EMRE_HUMAN	single-pass membrane protein with aspartate-rich tail 1	80					calcium ion transmembrane import into mitochondrion (GO:0036444)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	integral component of mitochondrial inner membrane (GO:0031305)|uniplex complex (GO:1990246)											TTCTCTATGTCGGGACACTCA	0.488													C|||	3	0.000599042	0.0023	0.0	5008	,	,		21190	0.0		0.0	False		,,,				2504	0.0					ENST00000331479.3																			0											c.(238-240)gtC>gtT		single-pass membrane protein with aspartate-rich tail 1		C		12,4394	19.1+/-41.9	0,12,2191	199.0	182.0	188.0		240	-11.6	0.1	22	dbSNP_134	188	0,8600		0,0,4300	no	coding-synonymous	C22orf32	NM_033318.4		0,12,6491	TT,TC,CC		0.0,0.2724,0.0923		80/108	42477982	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	91689							g.chr22:42477982C>T	BC024237	CCDS14031.1	22q13.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000183172	ENSG00000183172			25055	protein-coding gene	gene with protein product		615588	"""chromosome 22 open reading frame 32"""	C22orf32		12477932	Standard	NM_033318		Approved	dJ186O1.1, DDDD	uc003bca.3	Q9H4I9	OTTHUMG00000151286	ENST00000331479.3:c.240C>T	22.37:g.42477982C>T						SMDT1_ENST00000547929.1_Intron	p.V80V	NM_033318.4	NP_201575.3					2	314	+								B2R5D1|Q8TAB9	Silent	SNP	ENST00000331479.3	37	c.240C>T	CCDS14031.1																																																																																				0.488	SMDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322086.1	NM_033318		12	97	0	0	0	1	0	12	97				
NOL4	8715	broad.mit.edu	37	18	31537316	31537316	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr18:31537316G>A	ENST00000261592.5	-	8	1699	c.1402C>T	c.(1402-1404)Cgg>Tgg	p.R468W	NOL4_ENST00000538587.1_Missense_Mutation_p.R394W|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535384.1_Missense_Mutation_p.R183W|NOL4_ENST00000535475.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	468						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTTTTCATCCGCCTGCAGGAC	0.418																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1402-1404)Cgg>Tgg		nucleolar protein 4							186.0	158.0	167.0					18																	31537316		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31537316G>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1402C>T	18.37:g.31537316G>A	ENSP00000261592:p.Arg468Trp					NOL4_ENST00000538587.1_Missense_Mutation_p.R394W|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535475.1_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535384.1_Missense_Mutation_p.R183W	p.R468W	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			8	1699	-			468					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1402C>T	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532633	0.85812	.	.	ENSG00000101746	ENST00000261592;ENST00000535384;ENST00000538587	.	.	.	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000001	D	0.82632	0.5079	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.82804	-0.0276	9	0.87932	D	0	-11.28	20.5073	0.99209	0.0:0.0:1.0:0.0	.	394;468	B4DSQ0;O94818	.;NOL4_HUMAN	W	468;183;394	.	ENSP00000261592:R468W	R	-	1	2	NOL4	29791314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.509000	0.81698	2.855000	0.98099	0.585000	0.79938	CGG		0.418	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		6	68	0	0	0	1	0	6	68				
SYDE2	84144	broad.mit.edu	37	1	85624650	85624650	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:85624650C>A	ENST00000341460.5	-	7	3417	c.3368G>T	c.(3367-3369)gGa>gTa	p.G1123V		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	1123					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATAATTTTCTCCGATTTTTCT	0.363																																						ENST00000341460.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(3367-3369)gGa>gTa		synapse defective 1, Rho GTPase, homolog 2 (C. elegans)							103.0	94.0	97.0					1																	85624650		1837	4093	5930	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85624650C>A	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.3368G>T	1.37:g.85624650C>A	ENSP00000340594:p.Gly1123Val						p.G1123V	NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	7	3417	-			1123					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.3368G>T	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462369	0.43736	.	.	ENSG00000097096	ENST00000341460	T	0.42513	0.97	5.95	5.03	0.67393	.	0.260103	0.38272	N	0.001758	T	0.29945	0.0749	L	0.57536	1.79	0.50039	D	0.999849	P	0.37423	0.594	B	0.35971	0.215	T	0.30416	-0.9979	10	0.87932	D	0	.	16.7635	0.85517	0.0:0.8607:0.1393:0.0	.	1123	Q5VT97	SYDE2_HUMAN	V	1123	ENSP00000340594:G1123V	ENSP00000340594:G1123V	G	-	2	0	SYDE2	85397238	0.640000	0.27243	0.995000	0.50966	0.824000	0.46624	1.360000	0.34125	1.494000	0.48533	0.655000	0.94253	GGA		0.363	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			5	52	1	0	0.014758	1	0.0152007	5	52				
ACP5	54	broad.mit.edu	37	19	11687262	11687262	+	Silent	SNP	G	G	A	rs369197756		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr19:11687262G>A	ENST00000592828.1	-	6	933	c.531C>T	c.(529-531)gaC>gaT	p.D177D	ACP5_ENST00000433365.2_Silent_p.D177D|ACP5_ENST00000218758.5_Silent_p.D177D|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000412435.2_Silent_p.D177D	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	177				DVKL -> LT (in Ref. 1; AAA76849). {ECO:0000305}.	bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CCAGCTTCACGTCTCGGGGCC	0.597																																						ENST00000592828.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						c.(529-531)gaC>gaT		acid phosphatase 5, tartrate resistant		G	,,,	1,4405	2.1+/-5.4	0,1,2202	48.0	47.0	48.0		531,531,531,531	2.8	0.0	19		48	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ACP5	NM_001111034.1,NM_001111035.1,NM_001111036.1,NM_001611.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	177/326,177/326,177/326,177/326	11687262	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54				water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	g.chr19:11687262G>A	X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"""tartrate-resistant acid phosphatase"""	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.531C>T	19.37:g.11687262G>A						ACP5_ENST00000590420.1_Intron|ACP5_ENST00000218758.5_Silent_p.D177D|ACP5_ENST00000412435.2_Silent_p.D177D|ACP5_ENST00000433365.2_Silent_p.D177D	p.D177D	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN			6	933	-			177	DVKL -> LT (in Ref. 1; AAA76849).				A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Silent	SNP	ENST00000592828.1	37	c.531C>T	CCDS12265.1																																																																																				0.597	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458881.1			9	41	0	0	0	1	0	9	41				
CHTOP	26097	broad.mit.edu	37	1	153610803	153610803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:153610803C>T	ENST00000368694.3	+	3	410	c.98C>T	c.(97-99)aCg>aTg	p.T33M	CHTOP_ENST00000403433.1_Missense_Mutation_p.T33M|CHTOP_ENST00000368690.3_Missense_Mutation_p.T33M|CHTOP_ENST00000495554.1_3'UTR|CHTOP_ENST00000368686.1_5'Flank|CHTOP_ENST00000368687.1_Missense_Mutation_p.T8M	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	33					mRNA export from nucleus (GO:0006406)|positive regulation of ATPase activity (GO:0032781)|positive regulation of helicase activity (GO:0051096)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|transcription export complex (GO:0000346)	poly(A) RNA binding (GO:0044822)	p.T33M(1)		endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						AAACAGCCGACGCCAGTGAAT	0.428																																						ENST00000368694.3																			1	Substitution - Missense(1)	p.T33M(1)	lung(1)	endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						c.(97-99)aCg>aTg		chromatin target of PRMT1							74.0	76.0	75.0					1																	153610803		2203	4300	6503	SO:0001583	missense	26097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding	g.chr1:153610803C>T		CCDS1048.1, CCDS72917.1, CCDS72918.1	1q21.3	2011-03-24	2011-03-24	2011-03-24	ENSG00000160679	ENSG00000160679			24511	protein-coding gene	gene with protein product	"""small protein rich in arginine and glycine"", ""Friend of Prmt1"""	614206	"""chromosome 1 open reading frame 77"""	C1orf77		19254951	Standard	NM_015607		Approved	DKFZP547E1010, SRAG, FOP	uc001fcn.2	Q9Y3Y2	OTTHUMG00000037052	ENST00000368694.3:c.98C>T	1.37:g.153610803C>T	ENSP00000357683:p.Thr33Met					CHTOP_ENST00000368687.1_Missense_Mutation_p.T8M|CHTOP_ENST00000368690.3_Missense_Mutation_p.T33M|CHTOP_ENST00000495554.1_3'UTR|CHTOP_ENST00000403433.1_Missense_Mutation_p.T33M	p.T33M	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN			3	410	+			33					D3DV55|Q0VAQ8|Q2VPI9|Q5T7Y8|Q5T7Y9|Q5T7Z0|Q6NSM4|Q6PB28|Q8WYT9|Q9BUC5|Q9H034|Q9H2L0	Missense_Mutation	SNP	ENST00000368694.3	37	c.98C>T	CCDS1048.1	.	.	.	.	.	.	.	.	.	.	C	7.042	0.562824	0.13498	.	.	ENSG00000160679	ENST00000368694;ENST00000403433;ENST00000368690;ENST00000368687	D;D	0.91740	-2.9;-2.9	5.5	3.22	0.36961	.	0.163924	0.64402	N	0.000003	T	0.58206	0.2106	N	0.04508	-0.205	0.32637	N	0.521224	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.09377	0.004;0.004;0.002	T	0.40040	-0.9584	10	0.02654	T	1	.	7.8294	0.29334	0.0:0.1737:0.0:0.8263	.	33;33;33	Q9Y3Y2-4;Q9Y3Y2-3;Q9Y3Y2	.;.;CHTOP_HUMAN	M	33;33;33;8	ENSP00000385228:T33M;ENSP00000357679:T33M	ENSP00000357676:T8M	T	+	2	0	CHTOP	151877427	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.521000	0.60532	0.537000	0.28751	-0.302000	0.09304	ACG		0.428	CHTOP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089967.1	NM_015607		6	130	0	0	0	1	0	6	130				
RHOBTB1	9886	broad.mit.edu	37	10	62648704	62648704	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr10:62648704G>A	ENST00000337910.5	-	6	1059	c.722C>T	c.(721-723)cCg>cTg	p.P241L	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.P241L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	241					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.P241L(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TTTGATGACCGGTGGAGGGGC	0.493																																						ENST00000337910.5																			1	Substitution - Missense(1)	p.P241L(1)	endometrium(1)	endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(721-723)cCg>cTg		Rho-related BTB domain containing 1							140.0	150.0	147.0					10																	62648704		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62648704G>A	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.722C>T	10.37:g.62648704G>A	ENSP00000338671:p.Pro241Leu					RHOBTB1_ENST00000357917.4_Missense_Mutation_p.P241L	p.P241L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN			6	1059	-	Prostate(12;0.0112)		241						Missense_Mutation	SNP	ENST00000337910.5	37	c.722C>T	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555953	0.86231	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.19938	2.11;2.11	5.78	5.78	0.91487	BTB/POZ fold (2);	0.000000	0.64402	D	0.000001	T	0.50701	0.1631	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.51513	-0.8696	10	0.87932	D	0	.	20.0024	0.97423	0.0:0.0:1.0:0.0	.	241	O94844	RHBT1_HUMAN	L	241	ENSP00000350595:P241L;ENSP00000338671:P241L	ENSP00000338671:P241L	P	-	2	0	RHOBTB1	62318710	1.000000	0.71417	0.957000	0.39632	0.907000	0.53573	9.761000	0.98940	2.722000	0.93159	0.467000	0.42956	CCG		0.493	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			23	146	0	0	0	1	0	23	146				
TAS1R1	80835	broad.mit.edu	37	1	6635003	6635003	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:6635003G>A	ENST00000333172.6	+	3	1004	c.811G>A	c.(811-813)Gtg>Atg	p.V271M	TAS1R1_ENST00000328191.4_Missense_Mutation_p.V271M|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	271					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GGCCACCGTCGTGGTTGTTTT	0.617																																						ENST00000333172.6																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(811-813)Gtg>Atg		taste receptor, type 1, member 1							44.0	46.0	45.0					1																	6635003		2203	4299	6502	SO:0001583	missense	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6635003G>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.811G>A	1.37:g.6635003G>A	ENSP00000331867:p.Val271Met					TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.V271M	p.V271M	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	3	1004	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	271					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.811G>A	CCDS81.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232352	0.39498	.	.	ENSG00000173662	ENST00000333172;ENST00000328191	D;D	0.87412	-2.25;-2.25	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.314820	0.32204	N	0.006427	D	0.93933	0.8058	M	0.89534	3.04	0.35217	D	0.775686	D;D	0.89917	1.0;1.0	D;D	0.81914	0.968;0.995	D	0.96891	0.9653	10	0.87932	D	0	.	11.5447	0.50685	0.0908:0.0:0.9092:0.0	.	271;271	Q7RTX1-3;Q7RTX1	.;TS1R1_HUMAN	M	271	ENSP00000331867:V271M;ENSP00000327705:V271M	ENSP00000327705:V271M	V	+	1	0	TAS1R1	6557590	1.000000	0.71417	0.326000	0.25389	0.010000	0.07245	4.252000	0.58785	2.497000	0.84241	0.655000	0.94253	GTG		0.617	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			13	41	0	0	0	1	0	13	41				
SHROOM4	57477	broad.mit.edu	37	X	50377685	50377685	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chrX:50377685G>A	ENST00000289292.7	-	4	1671	c.1388C>T	c.(1387-1389)cCt>cTt	p.P463L	SHROOM4_ENST00000376020.2_Missense_Mutation_p.P463L|SHROOM4_ENST00000460112.3_Missense_Mutation_p.P347L			Q9ULL8	SHRM4_HUMAN	shroom family member 4	463					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCCTCCTGTAGGGGGGCATGG	0.552																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1387-1389)cCt>cTt		shroom family member 4							103.0	91.0	95.0					X																	50377685		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377685G>A	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1388C>T	X.37:g.50377685G>A	ENSP00000289292:p.Pro463Leu					SHROOM4_ENST00000460112.3_Missense_Mutation_p.P347L|SHROOM4_ENST00000289292.7_Missense_Mutation_p.P463L	p.P463L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	1413	-	Ovarian(276;0.236)		463					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.1388C>T	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.323113	0.01320	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.18502	2.57;2.57;2.21	5.33	4.47	0.54385	.	0.549745	0.17961	N	0.156198	T	0.17662	0.0424	L	0.60455	1.87	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.13899	-1.0492	10	0.45353	T	0.12	.	8.4654	0.32953	0.1055:0.0:0.8945:0.0	.	463	Q9ULL8	SHRM4_HUMAN	L	463;463;347	ENSP00000289292:P463L;ENSP00000365188:P463L;ENSP00000421450:P347L	ENSP00000289292:P463L	P	-	2	0	SHROOM4	50394425	0.005000	0.15991	0.004000	0.12327	0.128000	0.20619	1.023000	0.30065	1.226000	0.43582	0.600000	0.82982	CCT		0.552	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		21	50	0	0	0	1	0	21	50				
FHDC1	85462	broad.mit.edu	37	4	153881733	153881733	+	Missense_Mutation	SNP	C	C	T	rs149221149		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr4:153881733C>T	ENST00000511601.1	+	5	868	c.680C>T	c.(679-681)gCg>gTg	p.A227V	FHDC1_ENST00000260008.3_Missense_Mutation_p.A227V			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	227	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AAGTTAAAAGCGTTTAGTGGC	0.363																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(679-681)gCg>gTg		FH2 domain containing 1		C	VAL/ALA	0,4406		0,0,2203	112.0	108.0	109.0		680	4.7	0.0	4	dbSNP_134	109	2,8598	2.2+/-6.3	0,2,4298	no	missense	FHDC1	NM_033393.2	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	227/1144	153881733	2,13004	2203	4300	6503	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153881733C>T	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.680C>T	4.37:g.153881733C>T	ENSP00000427567:p.Ala227Val					FHDC1_ENST00000260008.3_Missense_Mutation_p.A227V	p.A227V			Q9C0D6	FHDC1_HUMAN			5	868	+	all_hematologic(180;0.093)		227			FH2.			Missense_Mutation	SNP	ENST00000511601.1	37	c.680C>T	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514589	0.44763	0.0	2.33E-4	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.18174	2.23;2.23	5.6	4.74	0.60224	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.878418	0.10250	N	0.697271	T	0.30355	0.0762	M	0.79693	2.465	0.09310	N	1	D	0.54964	0.969	P	0.44561	0.453	T	0.25467	-1.0131	10	0.54805	T	0.06	.	14.4559	0.67416	0.2676:0.7324:0.0:0.0	.	227	Q9C0D6	FHDC1_HUMAN	V	227	ENSP00000427567:A227V;ENSP00000260008:A227V	ENSP00000260008:A227V	A	+	2	0	FHDC1	154101183	0.432000	0.25554	0.005000	0.12908	0.824000	0.46624	2.167000	0.42415	1.452000	0.47756	0.655000	0.94253	GCG		0.363	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		10	94	0	0	0	1	0	10	94				
USP32	84669	broad.mit.edu	37	17	58292126	58292126	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr17:58292126G>T	ENST00000300896.4	-	17	2071	c.1877C>A	c.(1876-1878)cCt>cAt	p.P626H	USP32_ENST00000592339.1_Missense_Mutation_p.P296H	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	626					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATTCGGAGAAGGTACATTTCC	0.403																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(1876-1878)cCt>cAt		ubiquitin specific peptidase 32							53.0	56.0	55.0					17																	58292126		2201	4299	6500	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58292126G>T	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.1877C>A	17.37:g.58292126G>T	ENSP00000300896:p.Pro626His					USP32_ENST00000592339.1_Missense_Mutation_p.P296H	p.P626H	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		17	2071	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		626					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.1877C>A	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305324	0.81247	.	.	ENSG00000170832	ENST00000300896	T	0.46451	0.87	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	L	0.29908	0.895	0.80722	D	1	D	0.61697	0.99	P	0.53593	0.73	T	0.13202	-1.0518	10	0.15066	T	0.55	.	19.155	0.93506	0.0:0.0:1.0:0.0	.	626	Q8NFA0	UBP32_HUMAN	H	626	ENSP00000300896:P626H	ENSP00000300896:P626H	P	-	2	0	USP32	55646908	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.761000	0.98940	2.539000	0.85634	0.650000	0.86243	CCT		0.403	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		8	41	1	0	4.68919e-08	1	5.24985e-08	8	41				
TYMSOS	494514	broad.mit.edu	37	18	658147	658147	+	Missense_Mutation	SNP	C	C	A	rs182344736	byFrequency	TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr18:658147C>A	ENST00000323813.3	-	1	193	c.101G>T	c.(100-102)tGt>tTt	p.C34F	TYMS_ENST00000323224.7_Intron|TYMS_ENST00000323250.5_Intron|TYMS_ENST00000323274.10_Intron|C18orf56_ENST00000585033.1_Missense_Mutation_p.C34F|RP11-806L2.5_ENST00000584679.1_RNA	NM_001012716.2	NP_001012734.2	Q8TAI1	TYMOS_HUMAN		34																	GCGGGCAACACACACAGCAGC	0.692													C|||	20	0.00399361	0.0008	0.0058	5008	,	,		13100	0.0		0.0119	False		,,,				2504	0.0031					ENST00000323813.3																			0											c.(100-102)tGt>tTt		chromosome 18 open reading frame 56		C	PHE/CYS,	12,4346		0,12,2167	8.0	8.0	8.0		101,	1.5	0.0	18		8	83,8445		0,83,4181	yes	missense,intron	TYMS,C18orf56	NM_001012716.2,NM_001071.2	205,	0,95,6348	AA,AC,CC		0.9733,0.2754,0.7372	possibly-damaging,	34/124,	658147	95,12791	2179	4264	6443	SO:0001583	missense	494514						protein binding	g.chr18:658147C>A																												ENST00000323813.3:c.101G>T	18.37:g.658147C>A	ENSP00000316465:p.Cys34Phe					TYMS_ENST00000323224.7_Intron|TYMS_ENST00000323250.5_Intron|TYMS_ENST00000323274.10_Intron|C18orf56_ENST00000585033.1_Missense_Mutation_p.C34F	p.C34F	NM_001012716.2	NP_001012734.2	Q8TAI1	CR056_HUMAN			1	193	-			34					A8K1S1	Missense_Mutation	SNP	ENST00000323813.3	37	c.101G>T		7	0.003205128205128205	0	0.0	1	0.0027624309392265192	0	0.0	6	0.0079155672823219	C	6.405	0.442877	0.12164	0.002754	0.009733	ENSG00000176912	ENST00000323813	T	0.55930	0.49	2.4	1.48	0.22813	.	.	.	.	.	T	0.17746	0.0426	N	0.08118	0	0.09310	N	0.999994	P	0.39003	0.654	B	0.30179	0.112	T	0.11372	-1.0590	9	0.87932	D	0	.	3.5599	0.07878	0.0:0.5734:0.2726:0.154	.	34	Q8TAI1	CR056_HUMAN	F	34	ENSP00000316465:C34F	ENSP00000316465:C34F	C	-	2	0	C18orf56	648147	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.476000	0.06591	0.559000	0.29153	0.555000	0.69702	TGT		0.692	C18orf56-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000441199.2			10	3	1	0	0.0692343	1	0.0699131	10	3				
PIK3CA	5290	broad.mit.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N345K(44)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCTACGTGAATGTAAATATTC	0.308		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		44	Substitution - Missense(44)	p.N345K(44)	breast(27)|endometrium(6)|large_intestine(6)|central_nervous_system(5)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1033-1035)aaT>aaA		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							67.0	66.0	66.0					3																	178921553		1807	4074	5881	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178921553T>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1035T>A	3.37:g.178921553T>A	ENSP00000263967:p.Asn345Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.N345K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		5	1192	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		345					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1035T>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002090	0.54254	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75465	-0.3308	10	0.49607	T	0.09	-21.0442	9.7159	0.40274	0.0:0.1415:0.0:0.8585	.	345	P42336	PK3CA_HUMAN	K	345	ENSP00000263967:N345K	ENSP00000263967:N345K	N	+	3	2	PIK3CA	180404247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.030000	0.41108	0.441000	0.26529	0.402000	0.26972	AAT		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			22	97	0	0	0	1	0	22	97				
CCT6P1	643253	broad.mit.edu	37	7	65223278	65223278	+	RNA	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr7:65223278C>T	ENST00000442266.1	+	0	772				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		TCGCTCTTCACAGAGCTAAAA	0.323																																						ENST00000442266.1																			0																																																			643253							g.chr7:65223278C>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65223278C>T														0	772	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.323	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		3	19	0	0	0	1	0	3	19				
MAPKBP1	23005	broad.mit.edu	37	15	42114547	42114547	+	Silent	SNP	C	C	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr15:42114547C>A	ENST00000456763.2	+	27	3370	c.3174C>A	c.(3172-3174)ggC>ggA	p.G1058G	RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000514566.1_Silent_p.G1052G|MAPKBP1_ENST00000260357.7_Silent_p.G891G|MAPKBP1_ENST00000457542.2_Silent_p.G1052G|MAPKBP1_ENST00000221214.6_Silent_p.G935G	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1058										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TACAGGAGGGCAGCCCCCAGA	0.572																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(3154-3156)ggC>ggA		mitogen-activated protein kinase binding protein 1							41.0	43.0	42.0					15																	42114547		2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42114547C>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.3174C>A	15.37:g.42114547C>A						MAPKBP1_ENST00000221214.6_Silent_p.G935G|MAPKBP1_ENST00000260357.7_Silent_p.G891G|MAPKBP1_ENST00000514566.1_Silent_p.G1052G|MAPKBP1_ENST00000456763.2_Silent_p.G1058G	p.G1052G	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	26	3442	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	1058					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.3156C>A	CCDS45239.1																																																																																				0.572	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		3	26	1	0	0.004672	1	0.00491037	3	26				
CASP8	841	broad.mit.edu	37	2	202131273	202131273	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr2:202131273C>T	ENST00000432109.2	+	3	253	c.64C>T	c.(64-66)Ctc>Ttc	p.L22F	CASP8_ENST00000264274.9_Missense_Mutation_p.L22F|CASP8_ENST00000323492.7_Missense_Mutation_p.L22F|CASP8_ENST00000392259.2_Missense_Mutation_p.L22F|CASP8_ENST00000392266.3_Missense_Mutation_p.L22F|CASP8_ENST00000392258.3_Missense_Mutation_p.L22F|CASP8_ENST00000264275.5_Missense_Mutation_p.L22F|CASP8_ENST00000358485.4_Missense_Mutation_p.L81F	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	22	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCTGGCCTCCCTCAAGTTCCT	0.423										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(241-243)Ctc>Ttc		caspase 8, apoptosis-related cysteine peptidase							76.0	78.0	77.0					2																	202131273		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202131273C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.64C>T	2.37:g.202131273C>T	ENSP00000412523:p.Leu22Phe	HNSCC(4;0.00038)				CASP8_ENST00000392266.3_Missense_Mutation_p.L22F|CASP8_ENST00000432109.2_Missense_Mutation_p.L22F|CASP8_ENST00000392259.2_Missense_Mutation_p.L22F|CASP8_ENST00000323492.7_Missense_Mutation_p.L22F|CASP8_ENST00000392258.3_Missense_Mutation_p.L22F|CASP8_ENST00000264274.9_Missense_Mutation_p.L22F|CASP8_ENST00000264275.5_Missense_Mutation_p.L22F	p.L81F	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			2	437	+			22					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.241C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969049	0.53614	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.33	5.33	0.75918	DEATH-like (2);Death effector (3);	0.284783	0.35235	N	0.003345	D	0.94637	0.8271	M	0.93720	3.45	0.40288	D	0.97847	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;0.998;0.998;0.999;1.0;0.998;0.999;1.0;0.999	D	0.93668	0.6987	10	0.09590	T	0.72	.	11.4708	0.50268	0.0:0.9178:0.0:0.0822	.	22;22;22;22;81;22;22;22;22	Q14790-3;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;CASP8_HUMAN;.;.;.	F	22;22;22;22;22;22;22;22;22;81;22;22;22;22	ENSP00000376091:L22F;ENSP00000264274:L22F;ENSP00000376088:L22F;ENSP00000376094:L22F;ENSP00000412523:L22F;ENSP00000264275:L22F;ENSP00000396869:L22F;ENSP00000376087:L22F;ENSP00000388306:L22F;ENSP00000351273:L81F;ENSP00000397528:L22F;ENSP00000325722:L22F;ENSP00000390641:L22F	ENSP00000264274:L22F	L	+	1	0	CASP8	201839518	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	2.141000	0.42168	2.462000	0.83206	0.561000	0.74099	CTC		0.423	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		7	55	0	0	0	1	0	7	55				
COL19A1	1310	broad.mit.edu	37	6	70642746	70642746	+	Silent	SNP	A	A	G			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr6:70642746A>G	ENST00000322773.4	+	7	840	c.738A>G	c.(736-738)tcA>tcG	p.S246S		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	246					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTGAAATATCAGATACTAAGG	0.328																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(736-738)tcA>tcG		collagen, type XIX, alpha 1							61.0	61.0	61.0					6																	70642746		2203	4297	6500	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70642746A>G		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.738A>G	6.37:g.70642746A>G							p.S246S	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			7	840	+			246					Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.738A>G	CCDS4970.1																																																																																				0.328	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			5	24	0	0	0	1	0	5	24				
TUBA3C	7278	broad.mit.edu	37	13	19752452	19752452	+	Silent	SNP	G	G	A	rs114178008		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr13:19752452G>A	ENST00000400113.3	-	3	413	c.309C>T	c.(307-309)taC>taT	p.Y103Y		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	103					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.Y103*(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGCCTCTGGCGTAATTATTGG	0.527													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21439	0.0		0.0	False		,,,				2504	0.0					ENST00000400113.3																			1	Substitution - Nonsense(1)	p.Y103*(1)	lung(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(307-309)taC>taT		tubulin, alpha 3c		G		4,4402	9.9+/-24.2	0,4,2199	210.0	177.0	188.0		309	-3.0	0.9	13	dbSNP_133	188	0,8600		0,0,4300	no	coding-synonymous	TUBA3C	NM_006001.2		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		103/451	19752452	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19752452G>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.309C>T	13.37:g.19752452G>A							p.Y103Y	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	3	413	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	103					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	c.309C>T	CCDS9284.1																																																																																				0.527	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		17	124	0	0	0	1	0	17	124				
BCRP7	100133163	broad.mit.edu	37	22	18844883	18844883	+	3'UTR	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr22:18844883C>T	ENST00000412938.1	+	0	3133																											GGGCAGCTCACGGAAATACAG	0.582																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18844883C>T																												ENST00000412938.1:c.*3130C>T	22.37:g.18844883C>T														0	3133	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.582	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	82	0	0	0	1	0	5	82				
NKAPL	222698	broad.mit.edu	37	6	28227135	28227135	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr6:28227135G>A	ENST00000343684.3	+	0	38				ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like											breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						ACCGCCCAGCGTTGAGGCGCG	0.662																																						ENST00000343684.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31								NFKB activating protein-like							19.0	18.0	18.0					6																	28227135		2131	4162	6293			222698							g.chr6:28227135G>A	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.-15G>A	6.37:g.28227135G>A								NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN			0	38	+								Q3MIV1|Q9H4Q7	Translation_Start_Site	SNP	ENST00000343684.3	37		CCDS34353.1																																																																																				0.662	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			6	26	0	0	0	1	0	6	26				
CHD5	26038	broad.mit.edu	37	1	6190292	6190292	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:6190292G>A	ENST00000262450.3	-	22	3458	c.3359C>T	c.(3358-3360)tCg>tTg	p.S1120L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTTCCAGTCCGAGTCGTAGAT	0.652																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(3358-3360)tCg>tTg		chromodomain helicase DNA binding protein 5							112.0	98.0	103.0					1																	6190292		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6190292G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3359C>T	1.37:g.6190292G>A	ENSP00000262450:p.Ser1120Leu					CHD5_ENST00000378021.1_5'UTR	p.S1120L	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	22	3458	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1120			Helicase C-terminal.		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.3359C>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	34	5.309743	0.95629	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.96427	-4.01	4.81	4.81	0.61882	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000004	D	0.97343	0.9131	L	0.52266	1.64	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.98331	1.0533	10	0.87932	D	0	-11.1654	18.2593	0.90030	0.0:0.0:1.0:0.0	.	1120	Q8TDI0	CHD5_HUMAN	L	1120;636;528;528	ENSP00000262450:S1120L	ENSP00000262450:S1120L	S	-	2	0	CHD5	6112879	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.710000	0.98732	2.380000	0.81148	0.561000	0.74099	TCG		0.652	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		8	45	0	0	0	1	0	8	45				
PEX6	5190	broad.mit.edu	37	6	42946178	42946178	+	Silent	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr6:42946178C>T	ENST00000304611.8	-	1	780	c.711G>A	c.(709-711)ccG>ccA	p.P237P	PEX6_ENST00000244546.4_Silent_p.P237P	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	237					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TAGCCAAGTGCGGCTGTGAAG	0.647																																						ENST00000304611.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15						c.(709-711)ccG>ccA		peroxisomal biogenesis factor 6							70.0	71.0	71.0					6																	42946178		2203	4300	6503	SO:0001819	synonymous_variant	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42946178C>T	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.711G>A	6.37:g.42946178C>T						PEX6_ENST00000244546.4_Silent_p.P237P	p.P237P	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		1	780	-			237					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	c.711G>A	CCDS4877.1																																																																																				0.647	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		4	76	0	0	0	1	0	4	76				
MED24	9862	broad.mit.edu	37	17	38189381	38189381	+	Silent	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr17:38189381G>A	ENST00000394128.2	-	8	831	c.750C>T	c.(748-750)ctC>ctT	p.L250L	MED24_ENST00000394127.2_Silent_p.L237L|MED24_ENST00000356271.3_Silent_p.L237L|MED24_ENST00000394126.1_Silent_p.L275L|MED24_ENST00000501516.3_Silent_p.L269L|MED24_ENST00000479829.1_5'Flank	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	250					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGGTGCCCTCGAGCAGGATCA	0.632																																						ENST00000394126.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(823-825)ctC>ctT		mediator complex subunit 24							62.0	53.0	56.0					17																	38189381		2203	4300	6503	SO:0001819	synonymous_variant	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38189381G>A	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.750C>T	17.37:g.38189381G>A						MED24_ENST00000356271.3_Silent_p.L237L|MED24_ENST00000501516.3_Silent_p.L269L|MED24_ENST00000394127.2_Silent_p.L237L|MED24_ENST00000394128.2_Silent_p.L250L	p.L275L			O75448	MED24_HUMAN			7	1243	-	Colorectal(19;0.000442)		250					A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	ENST00000394128.2	37	c.825C>T	CCDS11359.1																																																																																				0.632	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		8	58	0	0	0	1	0	8	58				
ORC2	4999	broad.mit.edu	37	2	201791505	201791505	+	Missense_Mutation	SNP	T	T	C	rs565666359		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr2:201791505T>C	ENST00000234296.2	-	12	1285	c.1036A>G	c.(1036-1038)Atc>Gtc	p.I346V	RN7SL694P_ENST00000584245.1_RNA	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	346					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						TTCACACTGATTCCAGGAAAG	0.373													T|||	1	0.000199681	0.0	0.0	5008	,	,		19095	0.001		0.0	False		,,,				2504	0.0					ENST00000234296.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						c.(1036-1038)Atc>Gtc		origin recognition complex, subunit 2							110.0	106.0	107.0					2																	201791505		2203	4300	6503	SO:0001583	missense	4999				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr2:201791505T>C		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.1036A>G	2.37:g.201791505T>C	ENSP00000234296:p.Ile346Val						p.I346V	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN			12	1285	-			346					Q13204|Q53TX5	Missense_Mutation	SNP	ENST00000234296.2	37	c.1036A>G	CCDS2334.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.436131	0.43224	.	.	ENSG00000115942	ENST00000234296	T	0.41065	1.01	5.61	3.16	0.36331	.	0.048442	0.85682	N	0.000000	T	0.30634	0.0771	L	0.38733	1.17	0.49389	D	0.99978	B;B	0.19817	0.012;0.039	B;B	0.25140	0.042;0.058	T	0.05370	-1.0889	10	0.19590	T	0.45	-5.6533	9.4887	0.38946	0.0:0.2019:0.0:0.7981	.	346;346	B4DYU9;Q13416	.;ORC2_HUMAN	V	346	ENSP00000234296:I346V	ENSP00000234296:I346V	I	-	1	0	ORC2	201499750	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.822000	0.62686	0.465000	0.27167	0.377000	0.23210	ATC		0.373	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		4	94	0	0	0	1	0	4	94				
GCHFR	2644	broad.mit.edu	37	15	41059435	41059435	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr15:41059435A>C	ENST00000260447.4	+	3	304	c.143A>C	c.(142-144)tAc>tCc	p.Y48S	GCHFR_ENST00000558467.1_Missense_Mutation_p.Y31S|DNAJC17_ENST00000558727.1_5'Flank|GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000559932.1_Missense_Mutation_p.Y31S|GCHFR_ENST00000559445.1_Missense_Mutation_p.Y37S|C15orf62_ENST00000344320.6_5'Flank	NM_005258.2	NP_005249.1	P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulator	48					negative regulation of biosynthetic process (GO:0009890)|negative regulation of GTP cyclohydrolase I activity (GO:0043105)|neurotransmitter metabolic process (GO:0042133)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|protein heterooligomerization (GO:0051291)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome (GO:0042470)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	amino acid binding (GO:0016597)|enzyme inhibitor activity (GO:0004857)			endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TATGAATACTACGTCGATGAC	0.607																																						ENST00000558467.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6						c.(91-93)tAc>tCc		GTP cyclohydrolase I feedback regulator							97.0	92.0	94.0					15																	41059435		2203	4300	6503	SO:0001583	missense	2644				negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane		g.chr15:41059435A>C	U78190	CCDS10064.1	15q15	2004-01-19	2004-05-20		ENSG00000137880	ENSG00000137880			4194	protein-coding gene	gene with protein product		602437	"""GTP cyclohydrolase I feedback regulatory protein"""			8702680, 1286669	Standard	NM_005258		Approved	GFRP, HsT16933	uc001zmr.1	P30047	OTTHUMG00000130069	ENST00000260447.4:c.143A>C	15.37:g.41059435A>C	ENSP00000260447:p.Tyr48Ser					GCHFR_ENST00000559932.1_Missense_Mutation_p.Y31S|GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000559445.1_Missense_Mutation_p.Y37S|GCHFR_ENST00000260447.4_Missense_Mutation_p.Y48S	p.Y31S			P30047	GFRP_HUMAN		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)	2	314	+		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	48					B2R4L6|B7ZLM8|Q2M1Q2|Q99749	Missense_Mutation	SNP	ENST00000260447.4	37	c.92A>C	CCDS10064.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.405269	0.42613	.	.	ENSG00000137880	ENST00000260447	.	.	.	5.63	3.26	0.37387	.	0.317192	0.39210	N	0.001439	T	0.24431	0.0592	.	.	.	0.30425	N	0.777759	B;B	0.32653	0.192;0.379	B;B	0.31390	0.091;0.129	T	0.12400	-1.0549	8	0.27082	T	0.32	-14.0155	5.4731	0.16680	0.7207:0.0:0.1386:0.1408	.	37;48	B7ZLM8;P30047	.;GFRP_HUMAN	S	48	.	ENSP00000260447:Y48S	Y	+	2	0	GCHFR	38846727	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	4.856000	0.62932	1.041000	0.40125	0.459000	0.35465	TAC		0.607	GCHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252360.2	NM_005258		11	83	0	0	0	1	0	11	83				
LIPC	3990	broad.mit.edu	37	15	58837961	58837961	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr15:58837961T>A	ENST00000356113.6	+	7	1210	c.595T>A	c.(595-597)Ttg>Atg	p.L199M	LIPC_ENST00000414170.3_Missense_Mutation_p.L199M|LIPC_ENST00000299022.5_Missense_Mutation_p.L199M|LIPC_ENST00000433326.2_Missense_Mutation_p.L138M			P11150	LIPC_HUMAN	lipase, hepatic	199					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CGCGGGACCTTTGTTTGAGGG	0.517																																						ENST00000414170.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(595-597)Ttg>Atg		lipase, hepatic							75.0	71.0	72.0					15																	58837961		2192	4292	6484	SO:0001583	missense	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58837961T>A		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.595T>A	15.37:g.58837961T>A	ENSP00000348425:p.Leu199Met					LIPC_ENST00000433326.2_Missense_Mutation_p.L138M|LIPC_ENST00000356113.6_Missense_Mutation_p.L199M|LIPC_ENST00000299022.5_Missense_Mutation_p.L199M	p.L199M			P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	6	882	+		Colorectal(260;0.215)	199					A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	c.595T>A	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.971747	0.34754	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97	5.44	-7.8	0.01214	Lipase, N-terminal (1);	0.240270	0.36101	N	0.002789	D	0.87116	0.6097	L	0.61218	1.895	0.25488	N	0.987675	P;P	0.45396	0.784;0.857	B;P	0.47206	0.285;0.541	T	0.80498	-0.1356	10	0.21540	T	0.41	.	6.2703	0.20951	0.3132:0.4056:0.0:0.2813	.	138;199	E7EUK6;P11150	.;LIPC_HUMAN	M	199;199;199;138	ENSP00000348425:L199M;ENSP00000395569:L199M;ENSP00000299022:L199M;ENSP00000395002:L138M	ENSP00000299022:L199M	L	+	1	2	LIPC	56625253	0.000000	0.05858	0.029000	0.17559	0.051000	0.14879	-0.200000	0.09478	-1.419000	0.02012	-0.376000	0.06991	TTG		0.517	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			5	56	0	0	0	1	0	5	56				
ZNF33A	7581	broad.mit.edu	37	10	38344196	38344196	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr10:38344196G>T	ENST00000458705.2	+	5	1299	c.1141G>T	c.(1141-1143)Gag>Tag	p.E381*	ZNF33A_ENST00000374618.3_Nonsense_Mutation_p.E382*|ZNF33A_ENST00000307441.9_Nonsense_Mutation_p.E381*|ZNF33A_ENST00000432900.2_Nonsense_Mutation_p.E388*|ZNF33A_ENST00000469037.2_Intron			Q06730	ZN33A_HUMAN	zinc finger protein 33A	381					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)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ACACACAGGGGAGAAACCTTT	0.428																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(1144-1146)Gag>Tag		zinc finger protein 33A							84.0	84.0	84.0					10																	38344196		2203	4300	6503	SO:0001587	stop_gained	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38344196G>T	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1141G>T	10.37:g.38344196G>T	ENSP00000387713:p.Glu381*					ZNF33A_ENST00000458705.2_Nonsense_Mutation_p.E381*|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Nonsense_Mutation_p.E388*|ZNF33A_ENST00000307441.9_Nonsense_Mutation_p.E381*	p.E382*	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			5	1322	+			381					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Nonsense_Mutation	SNP	ENST00000458705.2	37	c.1144G>T	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461584	0.84317	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	.	.	.	2.34	1.39	0.22231	.	0.000000	0.36591	N	0.002514	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.6379	0.22893	0.1689:0.0:0.8311:0.0	.	.	.	.	X	382;388;381;381	.	ENSP00000304268:E381X	E	+	1	0	ZNF33A	38384202	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	6.406000	0.73276	1.281000	0.44480	0.460000	0.39030	GAG		0.428	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		22	100	1	0	2.37509e-13	1	2.68829e-13	22	100				
ST6GALNAC6	30815	broad.mit.edu	37	9	130656799	130656799	+	Missense_Mutation	SNP	C	C	T	rs368807164		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr9:130656799C>T	ENST00000373146.1	-	4	468	c.289G>A	c.(289-291)Ggc>Agc	p.G97S	ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.G63S|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.G97S|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.G63S|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000542456.1_Silent_p.S32S|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.G97S			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	97					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ACCTTGTTGCCGAGAATGGGG	0.582																																						ENST00000373146.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(289-291)Ggc>Agc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6		C	SER/GLY	0,4406		0,0,2203	87.0	83.0	84.0		289	4.9	0.9	9		84	1,8599	1.2+/-3.3	0,1,4299	no	missense	ST6GALNAC6	NM_013443.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	97/334	130656799	1,13005	2203	4300	6503	SO:0001583	missense	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130656799C>T	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.289G>A	9.37:g.130656799C>T	ENSP00000362239:p.Gly97Ser					ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.G97S|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.G63S|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.G97S|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.G63S|ST6GALNAC6_ENST00000542456.1_Silent_p.S32S	p.G97S			Q969X2	SIA7F_HUMAN			4	468	-			97					B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Missense_Mutation	SNP	ENST00000373146.1	37	c.289G>A	CCDS6882.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840173	0.91117	0.0	1.16E-4	ENSG00000160408	ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	4.88	4.88	0.63580	.	0.051116	0.85682	D	0.000000	T	0.54565	0.1866	M	0.78637	2.42	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.66979	0.914;0.948	T	0.55309	-0.8161	10	0.37606	T	0.19	-13.6651	15.5067	0.75745	0.0:1.0:0.0:0.0	.	63;97	Q969X2-2;Q969X2	.;SIA7F_HUMAN	S	97;63;97;63;97;63	ENSP00000362239:G97S;ENSP00000362234:G63S;ENSP00000362235:G97S;ENSP00000362237:G63S;ENSP00000291839:G97S;ENSP00000405326:G63S	ENSP00000291839:G97S	G	-	1	0	ST6GALNAC6	129696620	1.000000	0.71417	0.935000	0.37517	0.634000	0.38068	4.937000	0.63513	2.260000	0.74910	0.555000	0.69702	GGC		0.582	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		9	91	0	0	0	1	0	9	91				
PPWD1	23398	broad.mit.edu	37	5	64859174	64859174	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:64859174C>T	ENST00000261308.5	+	1	109	c.37C>T	c.(37-39)Cgt>Tgt	p.R13C	CENPK_ENST00000510693.1_5'Flank|CENPK_ENST00000510354.1_5'Flank|CENPK_ENST00000506282.2_5'Flank|CENPK_ENST00000396679.1_5'Flank|CENPK_ENST00000514814.1_5'Flank|PPWD1_ENST00000535264.1_5'UTR|PPWD1_ENST00000538977.1_5'UTR|CENPK_ENST00000508421.1_5'Flank	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	13	Poly-Arg.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TCAGCAGAGACGTAGAAGGCG	0.562																																						ENST00000261308.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19						c.(37-39)Cgt>Tgt		peptidylprolyl isomerase domain and WD repeat containing 1							62.0	68.0	66.0					5																	64859174		2203	4300	6503	SO:0001583	missense	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64859174C>T	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.37C>T	5.37:g.64859174C>T	ENSP00000261308:p.Arg13Cys					PPWD1_ENST00000538977.1_5'UTR|PPWD1_ENST00000535264.1_5'UTR	p.R13C	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	1	109	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	13			Poly-Arg.		B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	c.37C>T	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141630	0.57044	.	.	ENSG00000113593	ENST00000261308	T	0.61859	0.07	4.62	-2.77	0.05877	.	0.286677	0.31427	N	0.007667	T	0.26810	0.0656	N	0.08118	0	0.31954	N	0.609304	P	0.48834	0.916	B	0.33521	0.165	T	0.44528	-0.9322	10	0.56958	D	0.05	.	11.3022	0.49314	0.3308:0.5996:0.0696:0.0	.	13	Q96BP3	PPWD1_HUMAN	C	13	ENSP00000261308:R13C	ENSP00000261308:R13C	R	+	1	0	PPWD1	64894930	0.004000	0.15560	0.000000	0.03702	0.074000	0.17049	0.458000	0.21892	-0.557000	0.06126	-0.467000	0.05162	CGT		0.562	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		13	71	0	0	0	1	0	13	71				
HRAS	3265	broad.mit.edu	37	11	534289	534289	+	Missense_Mutation	SNP	C	C	T	rs104894229		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr11:534289C>T	ENST00000451590.1	-	2	221	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000417302.1_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000311189.7_Missense_Mutation_p.G12S	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in CSTLO). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854}.|G -> C (in CSTLO). {ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:18039947}.|G -> D (in CSTLO; severe mutation). {ECO:0000269|PubMed:18039947}.|G -> E (in CSTLO). {ECO:0000269|PubMed:16443854}.|G -> S (in CSTLO, OSCC and CMEMS). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:17054105, ECO:0000269|PubMed:17412879}.|G -> V (in CSTLO, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:17412879}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCACACCGCCGGCGCCCACC	0.647		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		95	Substitution - Missense(95)	p.G12S(58)|p.G12C(25)|p.G12R(12)	upper_aerodigestive_tract(33)|urinary_tract(15)|skin(11)|thyroid(10)|cervix(7)|soft_tissue(5)|salivary_gland(5)|pituitary(3)|large_intestine(2)|lung(1)|penis(1)|prostate(1)|bone(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901	GRCh37	CM053283|CM061797	HRAS	M	rs104894229	c.(34-36)Ggc>Agc		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						78.0	74.0	76.0					11																	534289		2202	4300	6502	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534289C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.34G>A	11.37:g.534289C>T	ENSP00000407586:p.Gly12Ser	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000451590.1_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR	p.G12S	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	221	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	12		G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.34G>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492705	0.64074	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74329	0.3702	L	0.48935	1.535	0.80722	D	1	P;P	0.44281	0.797;0.831	B;P	0.44359	0.319;0.447	T	0.79598	-0.1737	10	0.72032	D	0.01	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	12;12	P01112-2;P01112	.;RASH_HUMAN	S	12	ENSP00000380722:G12S;ENSP00000380723:G12S;ENSP00000407586:G12S;ENSP00000388246:G12S;ENSP00000309845:G12S	ENSP00000309845:G12S	G	-	1	0	HRAS	524289	1.000000	0.71417	0.332000	0.25469	0.311000	0.27955	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGC		0.647	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		14	34	0	0	0	1	0	14	34				
KCNG1	3755	broad.mit.edu	37	20	49626747	49626747	+	Silent	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr20:49626747C>T	ENST00000371571.4	-	2	414	c.129G>A	c.(127-129)gcG>gcA	p.A43A	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'Flank|KCNG1_ENST00000396017.3_Silent_p.A43A	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	43					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCAGCCGCTGCGCCCGGCGGT	0.697																																						ENST00000371571.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(127-129)gcG>gcA		potassium voltage-gated channel, subfamily G, member 1							17.0	20.0	19.0					20																	49626747		2185	4250	6435	SO:0001819	synonymous_variant	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49626747C>T	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.129G>A	20.37:g.49626747C>T						KCNG1_ENST00000396017.3_Silent_p.A43A	p.A43A	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN			2	414	-			43					A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	ENST00000371571.4	37	c.129G>A	CCDS13436.1																																																																																				0.697	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		5	27	0	0	0	1	0	5	27				
NEK4	6787	broad.mit.edu	37	3	52780141	52780141	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr3:52780141T>G	ENST00000233027.5	-	10	1965	c.1763A>C	c.(1762-1764)aAc>aCc	p.N588T	NEK4_ENST00000535191.1_Missense_Mutation_p.N499T|NEK4_ENST00000383721.4_Missense_Mutation_p.N542T	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	588					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TCTACGTTGGTTTTCAGCCTC	0.413																																						ENST00000233027.5																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26						c.(1762-1764)aAc>aCc		NIMA-related kinase 4							228.0	216.0	220.0					3																	52780141		2203	4300	6503	SO:0001583	missense	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52780141T>G	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.1763A>C	3.37:g.52780141T>G	ENSP00000233027:p.Asn588Thr					NEK4_ENST00000535191.1_Missense_Mutation_p.N499T|NEK4_ENST00000383721.4_Missense_Mutation_p.N542T	p.N588T	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	10	1965	-			588					A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	c.1763A>C	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	T	4.289	0.052772	0.08291	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.71341	2.31;2.31;-0.56;2.31	5.41	1.56	0.23342	.	0.730747	0.13527	N	0.381248	T	0.54935	0.1889	L	0.45137	1.4	0.09310	N	1	B;B;B	0.21071	0.03;0.051;0.03	B;B;B	0.19946	0.012;0.027;0.012	T	0.34725	-0.9817	10	0.14656	T	0.56	.	4.718	0.12904	0.0:0.1722:0.162:0.6658	.	499;542;588	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	T	588;499;542;499	ENSP00000233027:N588T;ENSP00000437703:N499T;ENSP00000373227:N542T;ENSP00000419666:N499T	ENSP00000233027:N588T	N	-	2	0	NEK4	52755181	0.943000	0.32029	0.135000	0.22099	0.020000	0.10135	0.517000	0.22832	0.381000	0.24851	0.459000	0.35465	AAC		0.413	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157		30	183	0	0	0	1	0	30	183				
ADAM20	8748	broad.mit.edu	37	14	70991263	70991263	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr14:70991263C>A	ENST00000256389.3	-	2	606	c.362G>T	c.(361-363)aGa>aTa	p.R121I	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	71					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GACAATGTATCTCTGTCCCCC	0.532																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(361-363)aGa>aTa		ADAM metallopeptidase domain 20							138.0	96.0	110.0					14																	70991263		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991263C>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.362G>T	14.37:g.70991263C>A	ENSP00000256389:p.Arg121Ile					RP11-486O13.4_ENST00000556646.1_lincRNA	p.R121I	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	606	-			71					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.362G>T	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539569	0.27563	.	.	ENSG00000134007	ENST00000256389	T	0.06608	3.28	4.14	2.29	0.28610	Peptidase M12B, propeptide (1);	0.161221	0.28583	U	0.014833	T	0.16214	0.0390	M	0.88512	2.96	0.09310	N	1	P	0.37636	0.603	P	0.46419	0.516	T	0.03773	-1.1005	10	0.66056	D	0.02	.	6.0836	0.19954	0.0:0.6366:0.1741:0.1893	.	71	O43506	ADA20_HUMAN	I	121	ENSP00000256389:R121I	ENSP00000256389:R121I	R	-	2	0	ADAM20	70061016	0.000000	0.05858	0.175000	0.22980	0.006000	0.05464	-0.743000	0.04845	1.077000	0.40990	0.650000	0.86243	AGA		0.532	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			14	67	1	0	0.000151284	1	0.000164024	14	67				
NUP210L	91181	broad.mit.edu	37	1	154031152	154031152	+	Silent	SNP	A	A	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:154031152A>T	ENST00000368559.3	-	21	2939	c.2868T>A	c.(2866-2868)ccT>ccA	p.P956P	NUP210L_ENST00000271854.3_Silent_p.P956P|NUP210L_ENST00000368553.1_5'Flank	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	956					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TAAAAAATCCAGGATGTAATG	0.433																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(2866-2868)ccT>ccA		nucleoporin 210kDa-like							81.0	74.0	76.0					1																	154031152		1839	4093	5932	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154031152A>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2868T>A	1.37:g.154031152A>T						NUP210L_ENST00000271854.3_Silent_p.P956P	p.P956P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		21	2939	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		956					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.2868T>A	CCDS41399.1																																																																																				0.433	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		15	67	0	0	0	1	0	15	67				
XAB2	56949	broad.mit.edu	37	19	7688059	7688059	+	Silent	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr19:7688059G>A	ENST00000358368.4	-	9	1273	c.1236C>T	c.(1234-1236)gaC>gaT	p.D412D	XAB2_ENST00000534844.1_Silent_p.D409D	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	412					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TGCTCACATCGTCCAGCTGTC	0.527								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1234-1236)gaC>gaT	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							174.0	139.0	151.0					19																	7688059		2203	4300	6503	SO:0001819	synonymous_variant	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7688059G>A	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1236C>T	19.37:g.7688059G>A						XAB2_ENST00000534844.1_Silent_p.D409D	p.D412D	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			9	1273	-			412					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	ENST00000358368.4	37	c.1236C>T	CCDS32892.1																																																																																				0.527	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		4	71	0	0	0	1	0	4	71				
LYST	1130	broad.mit.edu	37	1	235993708	235993708	+	Missense_Mutation	SNP	C	C	T	rs141312203	byFrequency	TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:235993708C>T	ENST00000389794.3	-	3	184	c.10G>A	c.(10-12)Gac>Aac	p.D4N	LYST_ENST00000389793.2_Missense_Mutation_p.D4N|LYST_ENST00000536965.1_Missense_Mutation_p.D4N			Q99698	LYST_HUMAN	lysosomal trafficking regulator	4					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GAGTTACTGTCGGTGCTCATG	0.403																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(10-12)Gac>Aac		lysosomal trafficking regulator		C	ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	51.0	50.0	50.0		10	5.0	1.0	1	dbSNP_134	50	0,8600		0,0,4300	no	missense	LYST	NM_000081.2	23	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	4/3802	235993708	2,13004	2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235993708C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10G>A	1.37:g.235993708C>T	ENSP00000374444:p.Asp4Asn					LYST_ENST00000389793.2_Missense_Mutation_p.D4N|LYST_ENST00000536965.1_Missense_Mutation_p.D4N	p.D4N			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		3	184	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	4					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.10G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326879	0.41197	4.54E-4	0.0	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.62639	0.01;0.01;1.15	5.97	5.04	0.67666	.	.	.	.	.	T	0.53367	0.1792	L	0.51422	1.61	0.30103	N	0.807265	B;B;B	0.25667	0.097;0.131;0.011	B;B;B	0.20384	0.022;0.029;0.003	T	0.52480	-0.8570	9	0.32370	T	0.25	.	8.9285	0.35655	0.0:0.7704:0.1479:0.0817	.	4;4;4	B7ZMN7;Q99698-3;Q99698	.;.;LYST_HUMAN	N	4	ENSP00000374444:D4N;ENSP00000374443:D4N;ENSP00000438315:D4N	ENSP00000374443:D4N	D	-	1	0	LYST	234060331	0.994000	0.37717	0.976000	0.42696	0.994000	0.84299	2.721000	0.47260	1.445000	0.47624	0.585000	0.79938	GAC		0.403	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			9	36	0	0	0	1	0	9	36				
CARS2	79587	broad.mit.edu	37	13	111299479	111299479	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr13:111299479C>T	ENST00000257347.4	-	11	1225	c.1162G>A	c.(1162-1164)Ggc>Agc	p.G388S	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	388					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CTGACGGAGCCGCAGGCCAGC	0.667																																						ENST00000257347.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13						c.(1162-1164)Ggc>Agc		cysteinyl-tRNA synthetase 2, mitochondrial (putative)	L-Cysteine(DB00151)						40.0	33.0	35.0					13																	111299479		2203	4300	6503	SO:0001583	missense	79587				cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	g.chr13:111299479C>T	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.1162G>A	13.37:g.111299479C>T	ENSP00000257347:p.Gly388Ser					CARS2_ENST00000535398.1_5'UTR	p.G388S	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)		11	1225	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		388					Q8NI84|Q96IV4	Missense_Mutation	SNP	ENST00000257347.4	37	c.1162G>A	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	C	5.307	0.241957	0.10077	.	.	ENSG00000134905	ENST00000542993;ENST00000257347	T	0.41065	1.01	5.09	2.41	0.29592	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	1.075520	0.07015	N	0.825739	T	0.37919	0.1021	M	0.65975	2.015	0.09310	N	1	B	0.30021	0.265	B	0.18561	0.022	T	0.24693	-1.0153	10	0.23302	T	0.38	-9.5768	7.7018	0.28627	0.0:0.7288:0.0:0.2712	.	388	Q9HA77	SYCM_HUMAN	S	126;388	ENSP00000257347:G388S	ENSP00000257347:G388S	G	-	1	0	CARS2	110097480	0.008000	0.16893	0.000000	0.03702	0.006000	0.05464	0.714000	0.25808	0.547000	0.28938	-0.258000	0.10820	GGC		0.667	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		3	7	0	0	0	1	0	3	7				
HHIP	64399	broad.mit.edu	37	4	145636573	145636573	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr4:145636573G>C	ENST00000296575.3	+	10	2324	c.1669G>C	c.(1669-1671)Gat>Cat	p.D557H		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	557					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		ATTTGGAGAAGATGAACTAGG	0.423																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(1669-1671)Gat>Cat		hedgehog interacting protein							127.0	114.0	118.0					4																	145636573		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145636573G>C	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1669G>C	4.37:g.145636573G>C	ENSP00000296575:p.Asp557His						p.D557H	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	10	2324	+	all_hematologic(180;0.151)		557					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.1669G>C	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189185	0.94923	.	.	ENSG00000164161	ENST00000296575	T	0.19806	2.12	6.07	6.07	0.98685	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.58235	0.2108	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63954	-0.6520	10	0.87932	D	0	-24.8057	20.6439	0.99570	0.0:0.0:1.0:0.0	.	557	Q96QV1	HHIP_HUMAN	H	557	ENSP00000296575:D557H	ENSP00000296575:D557H	D	+	1	0	HHIP	145856023	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.229000	0.95273	2.884000	0.98904	0.655000	0.94253	GAT		0.423	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			19	117	0	0	0	1	0	19	117				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			5	190	0	0	0	1	0	5	190				
YTHDC2	64848	broad.mit.edu	37	5	112929033	112929033	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:112929033C>A	ENST00000161863.4	+	29	4459	c.4246C>A	c.(4246-4248)Cag>Aag	p.Q1416K		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1416	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ACAGTTGCTCCAGTTATGGGA	0.363																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(4246-4248)Cag>Aag		YTH domain containing 2							102.0	97.0	99.0					5																	112929033		2202	4300	6502	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112929033C>A	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.4246C>A	5.37:g.112929033C>A	ENSP00000161863:p.Gln1416Lys						p.Q1416K	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	29	4459	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	1416			YTH.		B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.4246C>A	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	C	8.946	0.967027	0.18659	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.28069	1.63	5.98	4.08	0.47627	YTH domain (2);	0.385745	0.28203	N	0.016218	T	0.09642	0.0237	N	0.00569	-1.365	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14172	-1.0482	10	0.13108	T	0.6	.	15.0022	0.71483	0.3604:0.6395:0.0:0.0	.	1416	Q9H6S0	YTDC2_HUMAN	K	1416;1326	ENSP00000161863:Q1416K	ENSP00000161863:Q1416K	Q	+	1	0	YTHDC2	112956932	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.003000	0.49505	1.513000	0.48852	0.650000	0.86243	CAG		0.363	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		8	49	1	0	3.09899e-07	1	3.43221e-07	8	49				
OR4N4	283694	broad.mit.edu	37	15	22383025	22383025	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr15:22383025A>G	ENST00000328795.4	+	1	644	c.553A>G	c.(553-555)Atc>Gtc	p.I185V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	185						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(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCGACAGGTCATCAAGCTGGC	0.522																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(553-555)Atc>Gtc		olfactory receptor, family 4, subfamily N, member 4							98.0	80.0	86.0					15																	22383025		2189	4259	6448	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383025A>G	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.553A>G	15.37:g.22383025A>G	ENSP00000332500:p.Ile185Val					RP11-69H14.6_ENST00000558896.1_RNA	p.I185V	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	644	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	185					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.553A>G	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	3.937	-0.015039	0.07681	.	.	ENSG00000183706	ENST00000328795	T	0.00091	8.74	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000124	T	0.00144	0.0004	L	0.45698	1.435	0.22280	N	0.999235	B	0.17667	0.023	B	0.22880	0.042	T	0.29640	-1.0005	10	0.56958	D	0.05	-15.2684	6.7688	0.23583	0.759:0.2409:0.0:0.0	.	185	Q8N0Y3	OR4N4_HUMAN	V	185	ENSP00000332500:I185V	ENSP00000332500:I185V	I	+	1	0	OR4N4	19884389	0.000000	0.05858	1.000000	0.80357	0.385000	0.30292	-0.615000	0.05597	1.522000	0.49001	0.332000	0.21555	ATC		0.522	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			18	145	0	0	0	1	0	18	145				
ZNF629	23361	broad.mit.edu	37	16	30794848	30794848	+	Silent	SNP	G	G	A	rs538423099		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr16:30794848G>A	ENST00000262525.4	-	3	1008	c.801C>T	c.(799-801)tgC>tgT	p.C267C		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AAGCCCGGCGGCACTCGCCGC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17446	0.001		0.0	False		,,,				2504	0.0					ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(799-801)tgC>tgT		zinc finger protein 629							66.0	72.0	70.0					16																	30794848		2193	4298	6491	SO:0001819	synonymous_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794848G>A	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.801C>T	16.37:g.30794848G>A							p.C267C	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	1008	-			267					Q15938	Silent	SNP	ENST00000262525.4	37	c.801C>T	CCDS45463.1																																																																																				0.637	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		4	91	0	0	0	1	0	4	91				
MOS	4342	broad.mit.edu	37	8	57025799	57025799	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr8:57025799G>A	ENST00000311923.1	-	1	742	c.743C>T	c.(742-744)cCg>cTg	p.P248L		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CAGGAGCTCCGGGGCGCGGTG	0.537																																					Esophageal Squamous(124;373 2870 4778)	ENST00000311923.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22						c.(742-744)cCg>cTg		v-mos Moloney murine sarcoma viral oncogene homolog							54.0	62.0	59.0					8																	57025799		2203	4300	6503	SO:0001583	missense	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57025799G>A		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.743C>T	8.37:g.57025799G>A	ENSP00000310722:p.Pro248Leu						p.P248L	NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	742	-			248			Protein kinase.		Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	c.743C>T	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747534	0.69533	.	.	ENSG00000172680	ENST00000311923	D	0.99474	-5.97	5.8	4.93	0.64822	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99594	0.9853	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97868	1.0284	10	0.87932	D	0	.	14.8663	0.70419	0.0686:0.0:0.9314:0.0	.	248	P00540	MOS_HUMAN	L	248	ENSP00000310722:P248L	ENSP00000310722:P248L	P	-	2	0	MOS	57188353	1.000000	0.71417	0.886000	0.34754	0.519000	0.34347	9.281000	0.95811	1.470000	0.48102	0.561000	0.74099	CCG		0.537	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		5	66	0	0	0	1	0	5	66				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	50	0	0	0	1	0	4	50				
JPH2	57158	broad.mit.edu	37	20	42788430	42788430	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr20:42788430C>T	ENST00000372980.3	-	2	1869	c.997G>A	c.(997-999)Gac>Aac	p.D333N		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	333					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGTGGCCGTCGGGCAGCGTG	0.662																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(997-999)Gac>Aac		junctophilin 2							43.0	37.0	39.0					20																	42788430		2203	4299	6502	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788430C>T	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.997G>A	20.37:g.42788430C>T	ENSP00000362071:p.Asp333Asn						p.D333N	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	1869	-		Myeloproliferative disorder(115;0.0122)	333					E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.997G>A	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.632685	0.87660	.	.	ENSG00000149596	ENST00000372980	T	0.58797	0.31	3.12	2.16	0.27623	.	0.115168	0.56097	N	0.000022	T	0.49440	0.1557	L	0.46614	1.455	0.80722	D	1	D	0.55172	0.97	B	0.44315	0.446	T	0.44651	-0.9314	10	0.42905	T	0.14	.	9.776	0.40618	0.0:0.8956:0.0:0.1044	.	333	Q9BR39	JPH2_HUMAN	N	333	ENSP00000362071:D333N	ENSP00000362071:D333N	D	-	1	0	JPH2	42221844	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.811000	0.47986	0.492000	0.27815	0.306000	0.20318	GAC		0.662	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			10	28	0	0	0	1	0	10	28				
LRP5	4041	broad.mit.edu	37	11	68181289	68181289	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr11:68181289G>A	ENST00000294304.7	+	12	2742	c.2636G>A	c.(2635-2637)cGc>cAc	p.R879H		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	879	Beta-propeller 3.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCCGGAACCGCACCCTCATC	0.587																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2635-2637)cGc>cAc		low density lipoprotein receptor-related protein 5							90.0	78.0	82.0					11																	68181289		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68181289G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2636G>A	11.37:g.68181289G>A	ENSP00000294304:p.Arg879His						p.R879H	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			12	2742	+			879			Beta-propeller 3.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.2636G>A	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	35	5.443128	0.96187	.	.	ENSG00000162337	ENST00000294304	D	0.96685	-4.09	5.02	5.02	0.67125	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.45126	U	0.000391	D	0.98239	0.9417	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.99044	1.0825	10	0.72032	D	0.01	.	18.5313	0.90993	0.0:0.0:1.0:0.0	.	879;879	Q9UES7;O75197	.;LRP5_HUMAN	H	879	ENSP00000294304:R879H	ENSP00000294304:R879H	R	+	2	0	LRP5	67937865	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.394000	0.97261	2.601000	0.87937	0.561000	0.74099	CGC		0.587	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		4	59	0	0	0	1	0	4	59				
SHROOM4	57477	broad.mit.edu	37	X	50377686	50377686	+	Missense_Mutation	SNP	G	G	T	rs147607307	byFrequency	TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chrX:50377686G>T	ENST00000289292.7	-	4	1670	c.1387C>A	c.(1387-1389)Cct>Act	p.P463T	SHROOM4_ENST00000376020.2_Missense_Mutation_p.P463T|SHROOM4_ENST00000460112.3_Missense_Mutation_p.P347T			Q9ULL8	SHRM4_HUMAN	shroom family member 4	463					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCTCCTGTAGGGGGGCATGGA	0.557													G|||	4	0.0010596	0.003	0.0	3775	,	,		14286	0.0		0.0	False		,,,				2504	0.0					ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1387-1389)Cct>Act		shroom family member 4		G	THR/PRO	18,3817		0,18,1614,571	102.0	90.0	94.0		1387	1.6	0.0	X	dbSNP_134	94	0,6728		0,0,2428,1872	yes	missense	SHROOM4	NM_020717.3	38	0,18,4042,2443	TT,TG,GG,G		0.0,0.4694,0.1704	benign	463/1494	50377686	18,10545	2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377686G>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1387C>A	X.37:g.50377686G>T	ENSP00000289292:p.Pro463Thr					SHROOM4_ENST00000460112.3_Missense_Mutation_p.P347T|SHROOM4_ENST00000289292.7_Missense_Mutation_p.P463T	p.P463T	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	1412	-	Ovarian(276;0.236)		463					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.1387C>A	CCDS35277.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.009	-1.822094	0.00589	0.004694	0.0	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.18657	2.56;2.56;2.2	5.33	1.58	0.23477	.	0.549745	0.17961	N	0.156198	T	0.18257	0.0438	L	0.60455	1.87	0.09310	N	1	B	0.23377	0.084	B	0.24155	0.051	T	0.22556	-1.0213	10	0.49607	T	0.09	.	4.1522	0.10244	0.2906:0.1682:0.5411:0.0	.	463	Q9ULL8	SHRM4_HUMAN	T	463;463;347	ENSP00000289292:P463T;ENSP00000365188:P463T;ENSP00000421450:P347T	ENSP00000289292:P463T	P	-	1	0	SHROOM4	50394426	0.005000	0.15991	0.001000	0.08648	0.121000	0.20230	0.478000	0.22212	-0.007000	0.14345	0.600000	0.82982	CCT		0.557	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		19	50	1	0	8.81451e-21	1	1.00877e-20	19	50				
NFATC1	4772	broad.mit.edu	37	18	77246756	77246756	+	Silent	SNP	G	G	A	rs368703221	byFrequency	TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr18:77246756G>A	ENST00000427363.2	+	9	2601	c.2601G>A	c.(2599-2601)gcG>gcA	p.A867A	NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000329101.4_Silent_p.A854A|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000545796.1_Silent_p.A395A|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000318065.5_Intron			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	867	Trans-activation domain B (TAD-B).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GCAGCCCAGCGTGCCCGCCCG	0.741													G|||	2	0.000399361	0.0015	0.0	5008	,	,		10295	0.0		0.0	False		,,,				2504	0.0				GBM(151;1210 2593 28719 45011)	ENST00000329101.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(2560-2562)gcG>gcA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1		G	,,,	2,4322		0,2,2160	15.0	17.0	16.0		,2562,,	-2.1	0.0	18		16	0,8406		0,0,4203	no	intron,coding-synonymous,intron,intron	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1	,,,	0,2,6363	AA,AG,GG		0.0,0.0463,0.0157	,,,	,854/931,,	77246756	2,12728	2162	4203	6365	SO:0001819	synonymous_variant	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77246756G>A	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.2601G>A	18.37:g.77246756G>A						NFATC1_ENST00000427363.2_Silent_p.A867A|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000545796.1_Silent_p.A395A|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000253506.5_Intron	p.A854A	NM_001278669.1|NM_001278673.1|NM_172387.1	NP_001265598.1|NP_001265602.1|NP_765975.1	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	9	2618	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	867			Trans-activation domain B (TAD-B).		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.2562G>A																																																																																					0.741	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		6	37	0	0	0	1	0	6	37				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			201283							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		6	111	0	0	0	1	0	6	111				
NAV3	89795	broad.mit.edu	37	12	78362441	78362441	+	Silent	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr12:78362441G>A	ENST00000397909.2	+	5	803	c.630G>A	c.(628-630)tcG>tcA	p.S210S	NAV3_ENST00000266692.7_Silent_p.S210S|NAV3_ENST00000536525.2_Silent_p.S210S|NAV3_ENST00000228327.6_Silent_p.S210S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	210			S -> W (in dbSNP:rs34195711).			membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCCTCCATCGGAAGCCAGCC	0.458										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(628-630)tcG>tcA		neuron navigator 3							56.0	58.0	57.0					12																	78362441		1968	4168	6136	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78362441G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.630G>A	12.37:g.78362441G>A		HNSCC(70;0.22)				NAV3_ENST00000266692.7_Silent_p.S210S|NAV3_ENST00000228327.6_Silent_p.S210S|NAV3_ENST00000536525.2_Silent_p.S210S	p.S210S			Q8IVL0	NAV3_HUMAN			5	803	+			210		S -> W (in dbSNP:rs34195711).			Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.630G>A		.	.	.	.	.	.	.	.	.	.	G	0.977	-0.698360	0.03279	.	.	ENSG00000067798	ENST00000550503	.	.	.	5.85	-3.92	0.04155	.	.	.	.	.	T	0.38639	0.1048	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37454	-0.9705	4	.	.	.	1.0831	2.1892	0.03894	0.4335:0.0811:0.2979:0.1875	.	.	.	.	R	57	.	.	G	+	1	0	NAV3	76886572	0.481000	0.25941	0.072000	0.20136	0.008000	0.06430	0.479000	0.22228	-0.454000	0.07066	0.637000	0.83480	GGA		0.458	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		8	69	0	0	0	1	0	8	69				
MIER1	57708	broad.mit.edu	37	1	67423735	67423744	+	Splice_Site	DEL	TATTTAGGAA	TATTTAGGAA	-			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:67423735_67423744delTATTTAGGAA	ENST00000355356.3	+	4	329_332	c.180_183delTATTTAGGAA	c.(178-183)agtatt>ag	p.SI60fs	MIER1_ENST00000371014.1_Splice_Site_p.SI113fs|MIER1_ENST00000355977.6_5'UTR|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000357692.2_Splice_Site_p.SI77fs|MIER1_ENST00000401042.3_Splice_Site_p.SI60fs|MIER1_ENST00000401041.1_Splice_Site_p.SI113fs|MIER1_ENST00000371016.1_Splice_Site_p.SI77fs|MIER1_ENST00000371018.3_Splice_Site_p.SI77fs	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	60	Glu-rich.				positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TATTTTGATTTATTTAGGAAGGCGACATGC	0.367																																						ENST00000357692.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						c.e6-1		mesoderm induction early response 1, transcriptional regulator																																				SO:0001630	splice_region_variant	57708				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr1:67423735_67423744delTATTTAGGAA		CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.181-1TATTTAGGAA>-	1.37:g.67423735_67423744delTATTTAGGAA						MIER1_ENST00000371014.1_Splice_Site_p.113_splice|MIER1_ENST00000371016.1_Splice_Site_p.77_splice|MIER1_ENST00000355977.6_5'UTR|MIER1_ENST00000371018.3_Splice_Site_p.77_splice|MIER1_ENST00000401042.3_Splice_Site_p.60_splice|MIER1_ENST00000401041.1_Splice_Site_p.113_splice|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000355356.3_Splice_Site_p.60_splice	p.77_splice	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN			6	488_491	+			84			Glu-rich.		C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Splice_Site	DEL	ENST00000355356.3	37	c.231_splice	CCDS41348.1																																																																																				0.367	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948	Frame_Shift_Del	8	69						8	69	---	---	---	---
HDGF	3068	broad.mit.edu	37	1	156713619	156713619	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:156713619delC	ENST00000357325.5	-	5	855	c.541delG	c.(541-543)gagfs	p.E181fs	HDGF_ENST00000537739.1_Frame_Shift_Del_p.E181fs|MRPL24_ENST00000361531.2_5'Flank|HDGF_ENST00000416666.2_Frame_Shift_Del_p.E149fs|HDGF_ENST00000368206.5_Frame_Shift_Del_p.E197fs|MRPL24_ENST00000368211.4_5'Flank|HDGF_ENST00000368209.5_Frame_Shift_Del_p.E174fs|HDGF_ENST00000465180.1_5'UTR	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	181	Glu-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		GTGGCTGCCTCCTTCTCCTCT	0.607																																						ENST00000357325.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(541-543)agfs		hepatoma-derived growth factor							49.0	48.0	48.0					1																	156713619		2203	4300	6503	SO:0001589	frameshift_variant	3068				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	g.chr1:156713619delC	D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.541delG	1.37:g.156713619delC	ENSP00000349878:p.Glu181fs					HDGF_ENST00000416666.2_Frame_Shift_Del_p.E149fs|HDGF_ENST00000368209.5_Frame_Shift_Del_p.E174fs|HDGF_ENST00000537739.1_Frame_Shift_Del_p.E181fs|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368206.5_Frame_Shift_Del_p.E197fs	p.E181fs	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN		Colorectal(1306;0.018)	5	855	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)	181			Glu-rich.		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Frame_Shift_Del	DEL	ENST00000357325.5	37	c.541delG	CCDS1156.1																																																																																				0.607	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		8	42						8	42	---	---	---	---
EEF1A1	1915	broad.mit.edu	37	6	74228912	74228914	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr6:74228912_74228914delCAC	ENST00000316292.9	-	3	1353_1355	c.362_364delGTG	c.(361-366)ggtgaa>gaa	p.G121del	EEF1A1_ENST00000309268.6_In_Frame_Del_p.G121del|EEF1A1_ENST00000331523.2_In_Frame_Del_p.G121del|EEF1A1_ENST00000491404.1_5'UTR	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	121	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GCTTCAAATTCACCAACACCAGC	0.448											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(361-366)gaa>g		eukaryotic translation elongation factor 1 alpha 1																																				SO:0001651	inframe_deletion	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228912_74228914delCAC	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.362_364delGTG	6.37:g.74228912_74228914delCAC	ENSP00000339063:p.Gly121del		OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_ENST00000309268.6_In_Frame_Del_p.GE121del|EEF1A1_ENST00000331523.2_In_Frame_Del_p.GE121del|EEF1A1_ENST00000491404.1_5'UTR	p.GE121del	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			3	1353_1355	-			121					P04719|P04720|Q6IQ15	In_Frame_Del	DEL	ENST00000316292.9	37	c.362_364delGTG	CCDS4980.1																																																																																				0.448	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		7	39						7	39	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64966991	64966992	+	Frame_Shift_Ins	INS	-	-	A	rs531944687|rs369575747		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr10:64966991_64966992insA	ENST00000399262.2	-	10	4655_4656	c.4437_4438insT	c.(4435-4440)tttatcfs	p.I1480fs	JMJD1C_ENST00000399251.1_Frame_Shift_Ins_p.I1261fs|JMJD1C_ENST00000542921.1_Frame_Shift_Ins_p.I1298fs|JMJD1C_ENST00000402544.1_Frame_Shift_Ins_p.I1261fs	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1480					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTAAATGGATAAAATCAGTTG	0.416																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(4435-4440)tttccafs		jumonji domain containing 1C																																				SO:0001589	frameshift_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64966991_64966992insA	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.4438dupT	10.37:g.64966995_64966995dupA	ENSP00000382204:p.Ile1480fs					JMJD1C_ENST00000399251.1_Frame_Shift_Ins_p.P1261fs|JMJD1C_ENST00000542921.1_Frame_Shift_Ins_p.P1298fs|JMJD1C_ENST00000402544.1_Frame_Shift_Ins_p.P1261fs	p.P1480fs	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	4655_4656	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1480					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Frame_Shift_Ins	INS	ENST00000399262.2	37	c.4437_4438insT	CCDS41532.1																																																																																				0.416	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		12	84						12	84	---	---	---	---
TNP2	7142	broad.mit.edu	37	16	11363090	11363090	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr16:11363090delG	ENST00000312693.3	-	1	99	c.30delC	c.(28-30)atcfs	p.I10fs	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	10					acrosome reaction (GO:0007340)|binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						GAGTGTGGGTGATAGGAAGGC	0.602																																						ENST00000312693.3																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						c.(28-30)atfs		transition protein 2 (during histone to protamine replacement)							80.0	88.0	85.0					16																	11363090		2087	4212	6299	SO:0001589	frameshift_variant	7142				cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr16:11363090delG		CCDS45410.1	16p13.13	2008-08-01				ENSG00000178279			11952	protein-coding gene	gene with protein product		190232				1395729, 2250010	Standard	NM_005425		Approved	TP2	uc002das.3	Q05952		ENST00000312693.3:c.30delC	16.37:g.11363090delG	ENSP00000325738:p.Ile10fs					RMI2_ENST00000572173.1_Intron	p.I10fs	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN			1	99	-			10					Q9NZB0	Frame_Shift_Del	DEL	ENST00000312693.3	37	c.30delC	CCDS45410.1																																																																																				0.602	TNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417806.1	NM_005425		9	84						9	84	---	---	---	---
ONECUT3	390874	broad.mit.edu	37	19	1775407	1775408	+	Frame_Shift_Ins	INS	-	-	C	rs140318443		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr19:1775407_1775408insC	ENST00000382349.4	+	2	2738_2739	c.1448_1449insC	c.(1447-1452)ggccccfs	p.GP483fs		NM_001080488.1	NP_001073957.1	O60422	ONEC3_HUMAN	one cut homeobox 3	483					endocrine pancreas development (GO:0031018)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)						Acute lymphoblastic leukemia(61;4.66e-11)|all_hematologic(61;4.59e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		gcccccgggggccccgccggcg	0.738																																						ENST00000382349.4																			0											c.(1447-1449)gccfs		one cut homeobox 3				133,1277		41,51,613						1.5	0.9		dbSNP_134	3	296,3544		96,104,1720	no	frameshift	ONECUT3	NM_001080488.1		137,155,2333	A1A1,A1R,RR		7.7083,9.4326,8.1714				429,4821				SO:0001589	frameshift_variant	390874				endocrine pancreas development		sequence-specific DNA binding	g.chr19:1775407_1775408insC	AC004755	CCDS45900.1	19p13.3	2012-03-09	2007-07-16			ENSG00000205922		"""Homeoboxes / CUT class"""	13399	protein-coding gene	gene with protein product		611294	"""one cut domain, family member 3"""			9915796	Standard	NM_001080488		Approved		uc010xgr.2	O60422		ENST00000382349.4:c.1452dupC	19.37:g.1775411_1775411dupC	ENSP00000371786:p.Gly483fs						p.A483fs	NM_001080488.1	NP_001073957.1	O60422	ONEC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	2738_2739	+		Acute lymphoblastic leukemia(61;4.66e-11)|all_hematologic(61;4.59e-07)	483					A8MZM7	Frame_Shift_Ins	INS	ENST00000382349.4	37	c.1448_1449insC	CCDS45900.1																																																																																				0.738	ONECUT3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418499.1			2	4						2	4	---	---	---	---
ITCH	83737	broad.mit.edu	37	20	33033102	33033103	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr20:33033102_33033103insG	ENST00000262650.6	+	12	1235_1236	c.1099_1100insG	c.(1099-1101)cggfs	p.R367fs	ITCH_ENST00000374864.4_Frame_Shift_Ins_p.R326fs|ITCH_ENST00000535650.1_Frame_Shift_Ins_p.R216fs			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	367	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CTGGGAACGGCGGGTTGACAAC	0.371																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(976-978)ggtfs		itchy E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33033102_33033103insG	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1102dupG	20.37:g.33033105_33033105dupG	ENSP00000262650:p.Arg367fs					ITCH_ENST00000535650.1_Frame_Shift_Ins_p.G216fs|ITCH_ENST00000262650.6_Frame_Shift_Ins_p.G367fs	p.G326fs	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			11	1189_1190	+			367			WW 1.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Frame_Shift_Ins	INS	ENST00000262650.6	37	c.976_977insG	CCDS58768.1																																																																																				0.371	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			10	83						10	83	---	---	---	---
