#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
FLG	2312	broad.mit.edu	37	1	152277449	152277449	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:152277449G>A	ENST00000368799.1	-	3	9948	c.9913C>T	c.(9913-9915)Cgc>Tgc	p.R3305C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3305	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)	p.R3305S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGGTGGCGGGATCCGTGT	0.567									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.R3305S(1)	lung(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(9913-9915)Cgc>Tgc		filaggrin							380.0	373.0	376.0					1																	152277449		2203	4300	6503	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.chr1:152277449G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9913C>T	1.37:g.152277449G>A	ENSP00000357789:p.Arg3305Cys					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R3305C	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9948	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3305			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9913C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634128	0.29068	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.04275	3.66	3.45	-5.23	0.02798	.	.	.	.	.	T	0.04182	0.0116	L	0.43152	1.355	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.16689	-1.0394	9	0.49607	T	0.09	.	6.6758	0.23093	0.0:0.2708:0.2003:0.5289	.	3305	P20930	FILA_HUMAN	C	3305;243	ENSP00000357789:R3305C	ENSP00000357786:R243C	R	-	1	0	FLG	150544073	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-0.305000	0.08188	-0.704000	0.05042	0.298000	0.19748	CGC		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	772	0	0	0	1	0	7	772				
THPO	7066	broad.mit.edu	37	3	184090590	184090590	+	Missense_Mutation	SNP	C	C	T	rs147206404		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr3:184090590C>T	ENST00000204615.7	-	6	987	c.773G>A	c.(772-774)cGt>cAt	p.R258H	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.R254H|THPO_ENST00000477594.1_5'Flank|THPO_ENST00000421442.2_Silent_p.S219S	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	258					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAAGAGTCCACGAGTTCCATT	0.562													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17585	0.0		0.0	False		,,,				2504	0.0					ENST00000204615.7																			0				NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(772-774)cGt>cAt		thrombopoietin		C	HIS/ARG,HIS/ARG,	2,4404	4.2+/-10.8	0,2,2201	149.0	151.0	151.0		773,761,756	-3.0	0.6	3	dbSNP_134	151	0,8600		0,0,4300	yes	missense,missense,coding-synonymous	THPO	NM_000460.2,NM_001177597.1,NM_001177598.1	29,29,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,	258/354,254/350,252/320	184090590	2,13004	2203	4300	6503	SO:0001583	missense	7066				cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity	g.chr3:184090590C>T		CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"""Endogenous ligands"""	11795	protein-coding gene	gene with protein product	"""prepro-thrombopoietin"", ""megakaryocyte stimulating factor"", ""myeloproliferative leukemia virus oncogene ligand"", ""megakaryocyte growth and development factor"", ""MPL ligand"", ""megakaryocyte colony-stimulating factor"", ""c-mpl ligand"", ""thrombopoietin nirs variant 1"""	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.773G>A	3.37:g.184090590C>T	ENSP00000204615:p.Arg258His					THPO_ENST00000421442.2_Silent_p.S219S|THPO_ENST00000445696.2_Missense_Mutation_p.R254H|EIF2B5_ENST00000444495.1_Intron	p.R258H	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	987	-	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		258					A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	ENST00000204615.7	37	c.773G>A	CCDS3265.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.005	-2.136560	0.00335	4.54E-4	0.0	ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000353488	T;T	0.28255	1.62;1.62	4.59	-3.04	0.05412	Four-helical cytokine, core (1);	0.657623	0.13687	N	0.369784	T	0.06234	0.0161	N	0.01048	-1.04	0.45914	D	0.998753	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43426	-0.9392	10	0.02654	T	1	-25.6343	4.5539	0.12128	0.1403:0.2699:0.0:0.5898	.	254;258	P40225-2;P40225	.;TPO_HUMAN	H	258;254;219	ENSP00000204615:R258H;ENSP00000410763:R254H	ENSP00000204615:R258H	R	-	2	0	THPO	185573284	0.103000	0.21917	0.622000	0.29159	0.041000	0.13682	-0.322000	0.08007	-0.646000	0.05452	-1.693000	0.00726	CGT		0.562	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460		61	105	0	0	0	1	0	61	105				
SPATA6	54558	broad.mit.edu	37	1	48764386	48764386	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:48764386C>T	ENST00000371847.3	-	13	1630	c.1466G>A	c.(1465-1467)tGa>tAa	p.*489*	SPATA6_ENST00000371843.3_Silent_p.*473*|SPATA6_ENST00000396199.3_Silent_p.*417*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	0					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TGGATGGTCTCAGAAGCTTTC	0.373																																						ENST00000371847.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1465-1467)tGa>tAa		spermatogenesis associated 6							134.0	131.0	132.0					1																	48764386		2203	4300	6503	SO:0001819	synonymous_variant	54558				cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		g.chr1:48764386C>T	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.1466G>A	1.37:g.48764386C>T						SPATA6_ENST00000396199.3_Silent_p.*417*|SPATA6_ENST00000371843.3_Silent_p.*473*	p.*489*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN			13	1630	-			0					Q5T3N7|Q8WUE6	Silent	SNP	ENST00000371847.3	37	c.1466G>A	CCDS551.1																																																																																				0.373	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073		58	88	0	0	0	1	0	58	88				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	284802							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	86	0	0	0	1	0	7	86				
CDK14	5218	broad.mit.edu	37	7	90419964	90419964	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr7:90419964G>A	ENST00000380050.3	+	5	672	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	CDK14_ENST00000265741.3_Missense_Mutation_p.E163K|CDK14_ENST00000436577.2_Missense_Mutation_p.E52K|CDK14_ENST00000406263.1_Missense_Mutation_p.E135K			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	181	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AGCTATCAGGGAAGGTAGGCA	0.398																																					GBM(83;1228 1256 8311 16577 31299)	ENST00000406263.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						c.(403-405)Gaa>Aaa		cyclin-dependent kinase 14							156.0	154.0	155.0					7																	90419964		2203	4300	6503	SO:0001583	missense	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90419964G>A		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.541G>A	7.37:g.90419964G>A	ENSP00000369390:p.Glu181Lys					CDK14_ENST00000436577.2_Missense_Mutation_p.E52K|CDK14_ENST00000265741.3_Missense_Mutation_p.E163K|CDK14_ENST00000380050.3_Missense_Mutation_p.E181K	p.E135K			O94921	CDK14_HUMAN			4	845	+			181			Protein kinase.		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37	c.403G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.061476	0.93846	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.186204	0.45126	N	0.000394	D	0.96247	0.8776	H	0.99090	4.425	0.80722	D	1	D;D;D	0.76494	0.992;0.999;0.986	D;D;D	0.77004	0.983;0.979;0.989	D	0.97702	1.0185	9	.	.	.	-8.4647	19.9423	0.97170	0.0:0.0:1.0:0.0	.	52;163;181	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	K	181;163;135;52	ENSP00000369390:E181K;ENSP00000265741:E163K;ENSP00000385034:E135K;ENSP00000398936:E52K	.	E	+	1	0	CDK14	90257900	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.278000	0.89899	2.716000	0.92895	0.650000	0.86243	GAA		0.398	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		20	32	0	0	0	1	0	20	32				
HPS3	84343	broad.mit.edu	37	3	148857966	148857966	+	Silent	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr3:148857966G>A	ENST00000296051.2	+	2	533	c.393G>A	c.(391-393)ccG>ccA	p.P131P	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	131					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTGAAATGCCGCTTTCGGAGG	0.453									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(391-393)ccG>ccA		Hermansky-Pudlak syndrome 3							136.0	135.0	135.0					3																	148857966		2203	4300	6503	SO:0001819	synonymous_variant	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148857966G>A	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.393G>A	3.37:g.148857966G>A						HPS3_ENST00000460120.1_Intron	p.P131P	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		2	533	+			131					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	37	c.393G>A	CCDS3140.1																																																																																				0.453	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		5	150	0	0	0	1	0	5	150				
COL4A5	1287	broad.mit.edu	37	X	107920732	107920732	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chrX:107920732C>T	ENST00000361603.2	+	42	4037	c.3793C>T	c.(3793-3795)Cta>Tta	p.L1265L	Y_RNA_ENST00000384417.1_RNA|COL4A5_ENST00000328300.6_Silent_p.L1271L	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1265	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTATTAAGGTCTACCAGGTCC	0.438									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(3811-3813)Cta>Tta		collagen, type IV, alpha 5							105.0	88.0	94.0					X																	107920732		2203	4300	6503	SO:0001819	synonymous_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107920732C>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3793C>T	X.37:g.107920732C>T						COL4A5_ENST00000361603.2_Silent_p.L1265L	p.L1271L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			44	4055	+			1265			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	c.3811C>T	CCDS14543.1																																																																																				0.438	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			35	16	0	0	0	1	0	35	16				
MZT1	440145	broad.mit.edu	37	13	73293187	73293187	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr13:73293187G>A	ENST00000377818.3	-	2	212	c.128C>T	c.(127-129)aCt>aTt	p.T43I		NM_001071775.2	NP_001065243.1	Q08AG7	MZT1_HUMAN	mitotic spindle organizing protein 1	43					gamma-tubulin complex localization (GO:0033566)	centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						AATAGACAGAGTTTCCATATC	0.343																																						ENST00000377818.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(127-129)aCt>aTt		mitotic spindle organizing protein 1							88.0	91.0	90.0					13																	73293187		2203	4300	6503	SO:0001583	missense	440145				gamma-tubulin complex localization	centrosome|gamma-tubulin ring complex|spindle	protein binding	g.chr13:73293187G>A		CCDS31990.1	13q22.1	2013-08-13	2010-07-22	2010-07-22	ENSG00000204899	ENSG00000204899			33830	protein-coding gene	gene with protein product	"""mitotic-spindle organizing protein associated with a ring of gamma-tubulin 1"""	613448	"""chromosome 13 open reading frame 37"""	C13orf37		20360068	Standard	NM_001071775		Approved	LOC440145, FLJ21869, MGC150539, RP11-11C5.2, MOZART1	uc001viu.2	Q08AG7	OTTHUMG00000017069	ENST00000377818.3:c.128C>T	13.37:g.73293187G>A	ENSP00000367049:p.Thr43Ile						p.T43I	NM_001071775.2	NP_001065243.1	Q08AG7	MZT1_HUMAN			2	212	-			43					Q5W0P5	Missense_Mutation	SNP	ENST00000377818.3	37	c.128C>T	CCDS31990.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517456	0.85495	.	.	ENSG00000204899	ENST00000377818	T	0.53640	0.61	5.7	4.86	0.63082	.	0.058426	0.64402	D	0.000001	T	0.42899	0.1223	.	.	.	0.51233	D	0.999915	B	0.12013	0.005	B	0.14578	0.011	T	0.33317	-0.9873	9	0.62326	D	0.03	-19.1126	14.8722	0.70465	0.069:0.0:0.931:0.0	.	43	Q08AG7	MZT1_HUMAN	I	43	ENSP00000367049:T43I	ENSP00000367049:T43I	T	-	2	0	MZT1	72191188	1.000000	0.71417	0.877000	0.34402	0.991000	0.79684	9.229000	0.95273	1.413000	0.46997	0.591000	0.81541	ACT		0.343	MZT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045249.1	NM_001071775		34	46	0	0	0	1	0	34	46				
ITGA11	22801	broad.mit.edu	37	15	68619112	68619112	+	Missense_Mutation	SNP	C	C	T	rs370530712		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr15:68619112C>T	ENST00000315757.7	-	17	2177	c.2091G>A	c.(2089-2091)atG>atA	p.M697I	ITGA11_ENST00000423218.2_Missense_Mutation_p.M697I	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	697					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GCCTCTCATCCATGGTGGCGT	0.622																																						ENST00000423218.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(2089-2091)atG>atA		integrin, alpha 11	Tirofiban(DB00775)	C	ILE/MET	0,4262		0,0,2131	44.0	55.0	51.0		2091	2.9	1.0	15		51	1,8477		0,1,4238	no	missense	ITGA11	NM_001004439.1	10	0,1,6369	TT,TC,CC		0.0118,0.0,0.0078	benign	697/1189	68619112	1,12739	2131	4239	6370	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68619112C>T	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2091G>A	15.37:g.68619112C>T	ENSP00000327290:p.Met697Ile					ITGA11_ENST00000315757.7_Missense_Mutation_p.M697I	p.M697I			Q9UKX5	ITA11_HUMAN			17	2186	-			697					J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.2091G>A	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037796	0.35989	0.0	1.18E-4	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.40756	1.02;1.02	4.89	2.88	0.33553	Integrin alpha-2 (1);	0.127944	0.64402	D	0.000001	T	0.13798	0.0334	N	0.01576	-0.805	0.30347	N	0.785154	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.03840	-1.0999	10	0.54805	T	0.06	.	3.1933	0.06624	0.1505:0.5025:0.2486:0.0984	.	697;697	A8K8T0;Q9UKX5	.;ITA11_HUMAN	I	697;697;332	ENSP00000327290:M697I;ENSP00000403392:M697I	ENSP00000327290:M697I	M	-	3	0	ITGA11	66406166	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.781000	0.26774	2.426000	0.82243	0.561000	0.74099	ATG		0.622	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		3	8	0	0	0	1	0	3	8				
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G	rs559230605	byFrequency	TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000334888.5_Splice_Site_p.G46G|TMEM216_ENST00000398979.3_5'UTR			Q9P0N5	TM216_HUMAN	transmembrane protein 216	46					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													T|||	429	0.0856629	0.1248	0.0965	5008	,	,		21622	0.0665		0.0666	False		,,,				2504	0.0644					ENST00000515837.2																			3	Substitution - coding silent(3)	p.G46G(3)	prostate(2)|endometrium(1)	endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						c.e3-1		transmembrane protein 216							84.0	93.0	90.0					11																	61161357		1966	4155	6121	SO:0001630	splice_region_variant	51259					integral to membrane		g.chr11:61161357T>G		CCDS53640.1	11q13.1	2014-09-17			ENSG00000187049	ENSG00000187049			25018	protein-coding gene	gene with protein product		613277	"""cerebello-oculo-renal syndrome 2"", ""Meckel syndrome, type 2"""	CORS2, MKS2		11042152, 20036350, 20512146	Standard	NM_016499		Approved	MGC13379, HSPC244, JBTS2	uc021qkf.1	Q9P0N5		ENST00000515837.2:c.137-1T>G	11.37:g.61161357T>G						TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice	p.G46_splice			Q9P0N5	TM216_HUMAN			3	1083	+			39					A8MZ23|B7Z8N1	Splice_Site	SNP	ENST00000515837.2	37	c.136_splice	CCDS53640.1																																																																																				0.438	TMEM216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398430.1	NM_016499	Silent	9	23	0	0	0	1	0	9	23				
DEFB135	613209	broad.mit.edu	37	8	11842021	11842021	+	Silent	SNP	A	A	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:11842021A>G	ENST00000382208.2	+	2	156	c.156A>G	c.(154-156)gaA>gaG	p.E52E		NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN	defensin, beta 135	52					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|prostate(1)	4						TAAAAAACGAACAATATCGTA	0.383																																						ENST00000382208.2																			0				endometrium(1)|large_intestine(2)|prostate(1)	4						c.(154-156)gaA>gaG		defensin, beta 135							114.0	111.0	112.0					8																	11842021		1871	4100	5971	SO:0001819	synonymous_variant	613209				defense response to bacterium	extracellular region		g.chr8:11842021A>G	DQ012025	CCDS43710.1	8p23.1	2009-05-27			ENSG00000205883	ENSG00000205883		"""Defensins, beta"""	32400	protein-coding gene	gene with protein product						16033865	Standard	NM_001033017		Approved		uc003wuw.1	Q30KP9	OTTHUMG00000158719	ENST00000382208.2:c.156A>G	8.37:g.11842021A>G							p.E52E	NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN			2	156	+			52					Q4QY37	Silent	SNP	ENST00000382208.2	37	c.156A>G	CCDS43710.1																																																																																				0.383	DEFB135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351888.1	NM_001033017		28	51	0	0	0	1	0	28	51				
HIST1H3J	8356	broad.mit.edu	37	6	27858231	27858231	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:27858231G>C	ENST00000359303.2	-	1	339	c.340C>G	c.(340-342)Cac>Gac	p.H114D	HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	114					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						CGCTTGGCGTGAATAGCACAG	0.542																																						ENST00000359303.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						c.(340-342)Cac>Gac		histone cluster 1, H3j							64.0	64.0	64.0					6																	27858231		2203	4300	6503	SO:0001583	missense	8356				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27858231G>C	Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153		"""Histones / Replication-dependent"""	4774	protein-coding gene	gene with protein product		602817	"""H3 histone family, member J"", ""histone 1, H3j"""	H3FJ		9439656, 12408966	Standard	NM_003535		Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000359303.2:c.340C>G	6.37:g.27858231G>C	ENSP00000352252:p.His114Asp						p.H114D	NM_003535.2	NP_003526.1	P68431	H31_HUMAN			1	339	-			114					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000359303.2	37	c.340C>G	CCDS4638.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292920	0.40594	.	.	ENSG00000197153	ENST00000359303	T	0.56275	0.47	4.06	4.06	0.47325	.	.	.	.	.	T	0.61553	0.2356	.	.	.	0.51767	D	0.999931	.	.	.	.	.	.	T	0.66594	-0.5884	6	0.87932	D	0	.	16.036	0.80628	0.0:0.0:1.0:0.0	.	.	.	.	D	114	ENSP00000352252:H114D	ENSP00000352252:H114D	H	-	1	0	HIST1H3J	27966210	1.000000	0.71417	1.000000	0.80357	0.106000	0.19336	7.386000	0.79775	2.560000	0.86352	0.655000	0.94253	CAC		0.542	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043453.2	NM_003535		31	63	0	0	0	1	0	31	63				
ELAC2	60528	broad.mit.edu	37	17	12916587	12916587	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr17:12916587G>A	ENST00000338034.4	-	6	735	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	ELAC2_ENST00000426905.3_Missense_Mutation_p.R166W|ELAC2_ENST00000578071.1_Silent_p.C146C|ELAC2_ENST00000395962.2_Missense_Mutation_p.R147W|ELAC2_ENST00000609345.1_5'UTR	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	166					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GAGTGGGGCCGCACAGCTACA	0.488																																						ENST00000338034.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						c.(496-498)Cgg>Tgg		elaC ribonuclease Z 2							126.0	93.0	104.0					17																	12916587		2203	4300	6503	SO:0001583	missense	60528				tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12916587G>A	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.496C>T	17.37:g.12916587G>A	ENSP00000337445:p.Arg166Trp					ELAC2_ENST00000578071.1_5'UTR|ELAC2_ENST00000426905.3_Missense_Mutation_p.R166W|ELAC2_ENST00000395962.2_Missense_Mutation_p.R147W	p.R166W	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN			6	735	-			166					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	c.496C>T	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348466	0.41599	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962	T;T;T	0.56444	0.46;0.46;0.46	5.35	4.37	0.52481	.	0.060079	0.64402	D	0.000002	T	0.70868	0.3273	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;P;D;D	0.83275	0.996;0.786;0.986;0.996	T	0.74484	-0.3650	10	0.66056	D	0.02	-33.8047	11.6172	0.51096	0.0:0.0:0.8227:0.1773	.	166;149;147;166	B4DPL9;E9PGJ0;G5E9D5;Q9BQ52	.;.;.;RNZ2_HUMAN	W	166;166;147	ENSP00000405223:R166W;ENSP00000337445:R166W;ENSP00000379291:R147W	ENSP00000337445:R166W	R	-	1	2	ELAC2	12857312	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.712000	0.68407	1.609000	0.50190	0.655000	0.94253	CGG		0.488	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			13	23	0	0	0	1	0	13	23				
ELAVL1	1994	broad.mit.edu	37	19	8046013	8046013	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:8046013G>A	ENST00000407627.2	-	3	359	c.230C>T	c.(229-231)gCg>gTg	p.A77V	ELAVL1_ENST00000596459.1_Missense_Mutation_p.A77V|ELAVL1_ENST00000593807.1_Missense_Mutation_p.A77V|ELAVL1_ENST00000351593.5_Missense_Mutation_p.A104V	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	77	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)	p.A77V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CGTGTTGATCGCTCTCTCTGC	0.527																																						ENST00000407627.2																			1	Substitution - Missense(1)	p.A77V(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(229-231)gCg>gTg		ELAV like RNA binding protein 1							220.0	153.0	176.0					19																	8046013		2203	4300	6503	SO:0001583	missense	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8046013G>A	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.230C>T	19.37:g.8046013G>A	ENSP00000385269:p.Ala77Val					ELAVL1_ENST00000593807.1_Missense_Mutation_p.A77V|ELAVL1_ENST00000351593.5_Missense_Mutation_p.A104V|ELAVL1_ENST00000596459.1_Missense_Mutation_p.A77V	p.A77V	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN			3	359	-			77			RRM 1.		B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	ENST00000407627.2	37	c.230C>T	CCDS12193.1	.	.	.	.	.	.	.	.	.	.	G	36	5.624919	0.96660	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	D;D	0.87412	-2.25;-2.25	5.78	5.78	0.91487	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.90882	0.7135	M	0.85777	2.775	0.80722	D	1	D	0.67145	0.996	P	0.48030	0.564	D	0.92377	0.5910	10	0.87932	D	0	.	17.4906	0.87702	0.0:0.0:1.0:0.0	.	77	Q15717	ELAV1_HUMAN	V	77;104	ENSP00000385269:A77V;ENSP00000264073:A104V	ENSP00000264073:A104V	A	-	2	0	ELAVL1	7952013	1.000000	0.71417	0.965000	0.40720	0.957000	0.61999	9.132000	0.94455	2.719000	0.93026	0.655000	0.94253	GCG		0.527	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		22	51	0	0	0	1	0	22	51				
CSMD2	114784	broad.mit.edu	37	1	34042979	34042979	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:34042979C>T	ENST00000373381.4	-	49	7669	c.7493G>A	c.(7492-7494)cGc>cAc	p.R2498H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2500	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCCACCAGGCGGTAGCCGGC	0.642																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(7492-7494)cGc>cAc		CUB and Sushi multiple domains 2							62.0	64.0	64.0					1																	34042979		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34042979C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7493G>A	1.37:g.34042979C>T	ENSP00000362479:p.Arg2498His						p.R2498H	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			49	7669	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2500			Sushi 14.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.7493G>A		.	.	.	.	.	.	.	.	.	.	C	23.5	4.426812	0.83667	.	.	ENSG00000121904	ENST00000373381	T	0.66099	-0.19	5.45	5.45	0.79879	Complement control module (2);Sushi/SCR/CCP (3);	0.209844	0.41194	D	0.000922	T	0.75258	0.3825	L	0.53617	1.68	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.74023	0.982;0.982	T	0.72290	-0.4337	10	0.34782	T	0.22	.	18.2782	0.90089	0.0:1.0:0.0:0.0	.	2500;2498	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	2498	ENSP00000362479:R2498H	ENSP00000241312:R2500H	R	-	2	0	CSMD2	33815566	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	2.613000	0.46351	2.569000	0.86673	0.563000	0.77884	CGC		0.642	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		42	59	0	0	0	1	0	42	59				
IKBKAP	8518	broad.mit.edu	37	9	111653498	111653498	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr9:111653498C>T	ENST00000374647.5	-	28	3452	c.3145G>A	c.(3145-3147)Ggc>Agc	p.G1049S	IKBKAP_ENST00000537196.1_Missense_Mutation_p.G700S|IKBKAP_ENST00000467959.1_5'Flank	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1049					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGAGTTCTGCCGAGGCCCACC	0.403																																						ENST00000374647.5																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(3145-3147)Ggc>Agc		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							81.0	88.0	86.0					9																	111653498		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111653498C>T	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3145G>A	9.37:g.111653498C>T	ENSP00000363779:p.Gly1049Ser					IKBKAP_ENST00000537196.1_Missense_Mutation_p.G700S	p.G1049S	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN			28	3452	-			1049					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.3145G>A	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	C	5.309	0.242400	0.10077	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.34859	1.34;1.34	5.87	0.464	0.16706	.	0.502866	0.23021	N	0.052850	T	0.29817	0.0745	L	0.57536	1.79	0.22305	N	0.99922	B	0.24483	0.104	B	0.14578	0.011	T	0.17077	-1.0381	10	0.42905	T	0.14	-0.3977	8.8691	0.35305	0.0:0.5645:0.0:0.4355	.	1049	O95163	ELP1_HUMAN	S	1049;700	ENSP00000363779:G1049S;ENSP00000439367:G700S	ENSP00000363779:G1049S	G	-	1	0	IKBKAP	110693319	0.875000	0.30112	0.012000	0.15200	0.126000	0.20510	1.697000	0.37784	-0.180000	0.10637	-0.229000	0.12294	GGC		0.403	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			4	208	0	0	0	1	0	4	208				
EEF1A1	1915	broad.mit.edu	37	6	74227627	74227627	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:74227627G>A	ENST00000316292.9	-	7	2286	c.1295C>T	c.(1294-1296)aCa>aTa	p.T432I	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.T432I|EEF1A1_ENST00000309268.6_Missense_Mutation_p.T432I	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	432					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						CACCGCAACTGTCTGTCTCAT	0.403											OREG0003893	type=REGULATORY REGION|Gene=BC038897|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.(1294-1296)aCa>aTa		eukaryotic translation elongation factor 1 alpha 1							41.0	44.0	43.0					6																	74227627		2203	4300	6503	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74227627G>A	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.1295C>T	6.37:g.74227627G>A	ENSP00000339063:p.Thr432Ile		OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_ENST00000309268.6_Missense_Mutation_p.T432I|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.T432I	p.T432I	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			7	2286	-			432					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.1295C>T	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257171	0.80246	.	.	ENSG00000156508	ENST00000316292;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.56275	0.47;0.47;0.47	4.81	4.81	0.61882	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (2);Translation elongation factor EFTu/EF1A, C-terminal (2);	0.000000	0.85682	U	0.000000	T	0.80401	0.4616	H	0.98936	4.375	0.80722	D	1	D;D;D	0.52996	0.957;0.957;0.957	P;P;P	0.59948	0.866;0.866;0.866	D	0.88863	0.3327	10	0.87932	D	0	.	18.3119	0.90203	0.0:0.0:1.0:0.0	.	432;432;432	P68104;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;EF1A3_HUMAN	I	432;432;432;411	ENSP00000339063:T432I;ENSP00000339053:T432I;ENSP00000330054:T432I	ENSP00000339053:T432I	T	-	2	0	EEF1A1	74284348	1.000000	0.71417	0.976000	0.42696	0.877000	0.50540	9.332000	0.96446	2.381000	0.81170	0.556000	0.70494	ACA		0.403	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		19	25	0	0	0	1	0	19	25				
IGHA2	3494	broad.mit.edu	37	14	106054663	106054663	+	RNA	SNP	C	C	T	rs573891576	byFrequency	TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr14:106054663C>T	ENST00000390539.2	-	0	69				AL928742.1_ENST00000581377.1_RNA|AL928742.2_ENST00000578042.1_RNA			P01877	IGHA2_HUMAN	immunoglobulin heavy constant alpha 2 (A2m marker)						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										AGGCATGCGACGACCACGTTC	0.632													.|||	2	0.000399361	0.0	0.0014	5008	,	,		19233	0.0		0.0	False		,,,				2504	0.001					ENST00000390539.2																			0																				67.0	75.0	72.0					14																	106054663		2085	4203	6288			3494							g.chr14:106054663C>T	J00221		14q32.33	2012-10-02			ENSG00000211890	ENSG00000211890		"""Immunoglobulins / IGH locus"""	5479	other	immunoglobulin gene		147000					Standard	NG_001019		Approved			P01877	OTTHUMG00000152472		14.37:g.106054663C>T														0	69	-									RNA	SNP	ENST00000390539.2	37																																																																																						0.632	IGHA2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326338.1	NG_001019		7	80	0	0	0	1	0	7	80				
CASP8	841	broad.mit.edu	37	2	202131411	202131411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr2:202131411C>T	ENST00000432109.2	+	3	391	c.202C>T	c.(202-204)Cga>Tga	p.R68*	CASP8_ENST00000392258.3_Nonsense_Mutation_p.R68*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R68*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.R68*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.R68*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R68*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R68*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.R127*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	68	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)	p.R127*(1)|p.R68*(1)		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						GCTGCTCTTCCGAATTAATAG	0.453										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			2	Substitution - Nonsense(2)	p.R127*(1)|p.R68*(1)	ovary(2)	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.(379-381)Cga>Tga		caspase 8, apoptosis-related cysteine peptidase							67.0	68.0	68.0					2																	202131411		2203	4300	6503	SO:0001587	stop_gained	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.chr2:202131411C>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.202C>T	2.37:g.202131411C>T	ENSP00000412523:p.Arg68*	HNSCC(4;0.00038)				CASP8_ENST00000432109.2_Nonsense_Mutation_p.R68*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.R68*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.R68*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.R68*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R68*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R68*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R68*	p.R127*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			2	575	+			68			DED 2.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	c.379C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606738	0.87157	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	.	.	.	5.58	4.69	0.59074	.	0.756955	0.12477	N	0.465525	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	12.7476	0.57289	0.2986:0.7014:0.0:0.0	.	.	.	.	X	68;68;68;68;68;68;68;68;68;127;68;68;68;68	.	ENSP00000264274:R68X	R	+	1	2	CASP8	201839656	0.483000	0.25956	0.726000	0.30738	0.117000	0.20001	1.715000	0.37971	1.324000	0.45282	-0.314000	0.08810	CGA		0.453	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		19	30	0	0	0	1	0	19	30				
SLC9B1	150159	broad.mit.edu	37	4	103853300	103853300	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr4:103853300C>G	ENST00000296422.7	-	7	951	c.810G>C	c.(808-810)ttG>ttC	p.L270F	SLC9B1_ENST00000394789.3_Missense_Mutation_p.L270F|SLC9B1_ENST00000512651.2_5'UTR	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	270					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AGACTATGCTCAAGCATGTAT	0.373																																						ENST00000296422.7																			0											c.(808-810)ttG>ttC		solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1							113.0	106.0	108.0					4																	103853300		2203	4300	6503	SO:0001583	missense	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103853300C>G	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.810G>C	4.37:g.103853300C>G	ENSP00000296422:p.Leu270Phe					SLC9B1_ENST00000394789.3_Missense_Mutation_p.L270F|SLC9B1_ENST00000512651.2_5'UTR	p.L270F	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN			7	951	-			270					A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	c.810G>C	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	C	9.111	1.006653	0.19199	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000514340	T;T;T	0.17054	2.3;2.3;2.3	4.08	-1.1	0.09872	.	0.252887	0.31335	N	0.007826	T	0.16727	0.0402	L	0.55743	1.74	0.33921	D	0.640913	P;P;B	0.45594	0.862;0.732;0.343	P;P;B	0.47603	0.551;0.548;0.25	T	0.18178	-1.0345	10	0.51188	T	0.08	-0.0149	3.7161	0.08438	0.1204:0.4259:0.3012:0.1525	.	38;270;270	Q4ZJI4-2;Q4ZJI4;Q4ZJI4-3	.;SL9B1_HUMAN;.	F	270;270;213	ENSP00000378269:L270F;ENSP00000296422:L270F;ENSP00000426056:L213F	ENSP00000296422:L270F	L	-	3	2	SLC9B1	104072749	0.976000	0.34144	0.004000	0.12327	0.289000	0.27227	0.182000	0.16900	-0.140000	0.11394	0.585000	0.79938	TTG		0.373	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		39	69	0	0	0	1	0	39	69				
RPN2	6185	broad.mit.edu	37	20	35827605	35827605	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr20:35827605C>T	ENST00000237530.6	+	4	767	c.456C>T	c.(454-456)ctC>ctT	p.L152L	RPN2_ENST00000373622.5_Silent_p.L120L	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	152					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTGCTCGTCTCAGCAAGGAGG	0.517																																						ENST00000237530.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24						c.(454-456)ctC>ctT		ribophorin II							146.0	110.0	122.0					20																	35827605		2203	4300	6503	SO:0001819	synonymous_variant	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35827605C>T	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.456C>T	20.37:g.35827605C>T						RPN2_ENST00000373622.5_Silent_p.L120L	p.L152L	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN			4	767	+		Myeloproliferative disorder(115;0.00878)	152					Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Silent	SNP	ENST00000237530.6	37	c.456C>T	CCDS13291.1																																																																																				0.517	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		26	46	0	0	0	1	0	26	46				
GPR61	83873	broad.mit.edu	37	1	110085927	110085927	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:110085927C>T	ENST00000527748.1	+	2	966	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GACCCTCATGCCCCTGGCCAT	0.612																																						ENST00000527748.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23						c.(283-285)Ccc>Tcc		G protein-coupled receptor 61							127.0	118.0	121.0					1																	110085927		2203	4300	6503	SO:0001583	missense	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110085927C>T	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.283C>T	1.37:g.110085927C>T	ENSP00000432456:p.Pro95Ser					RP5-1160K1.8_ENST00000526411.1_RNA	p.P95S	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	966	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	95					A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	c.283C>T	CCDS801.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198292	0.79015	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.51817	0.69	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71603	-0.4543	10	0.72032	D	0.01	-36.6152	18.9139	0.92496	0.0:1.0:0.0:0.0	.	95	Q9BZJ8	GPR61_HUMAN	S	95;223	ENSP00000432456:P95S	ENSP00000286603:P223S	P	+	1	0	GPR61	109887450	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.814000	0.86154	2.548000	0.85928	0.655000	0.94253	CCC		0.612	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			5	199	0	0	0	1	0	5	199				
TCEA1	6917	broad.mit.edu	37	8	54897066	54897066	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:54897066C>G	ENST00000521604.2	-	7	938	c.535G>C	c.(535-537)Gaa>Caa	p.E179Q	TCEA1_ENST00000522635.1_Intron|TCEA1_ENST00000396401.3_Missense_Mutation_p.E158Q|TCEA1_ENST00000521086.2_5'UTR	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	179	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				DNA repair (GO:0006281)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of DNA-templated transcription, elongation (GO:0032784)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			TTCCTTATTTCTTGATATATA	0.318			T	PLAG1	salivary adenoma																																	ENST00000521604.2				Dom	yes		8	8q11.2	6917	T	"""transcription elongation factor A (SII), 1"""			E	PLAG1		salivary adenoma		0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(535-537)Gaa>Caa		transcription elongation factor A (SII), 1							58.0	49.0	52.0					8																	54897066		1815	4067	5882	SO:0001583	missense	6917				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding	g.chr8:54897066C>G	X62585	CCDS47857.1, CCDS47858.1	8q11.2	2011-01-25			ENSG00000187735	ENSG00000187735		"""General transcription factors"""	11612	protein-coding gene	gene with protein product		601425		TCEA, GTF2S		8812434, 8112616	Standard	NM_006756		Approved	SII, TF2S, TFIIS	uc003xru.3	P23193	OTTHUMG00000164262	ENST00000521604.2:c.535G>C	8.37:g.54897066C>G	ENSP00000428426:p.Glu179Gln					TCEA1_ENST00000522635.1_Intron|TCEA1_ENST00000521086.2_5'UTR|TCEA1_ENST00000396401.3_Missense_Mutation_p.E158Q	p.E179Q	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)		7	938	-		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	179			TFIIS central.		A6NF25|A8K339|Q15563|Q6FG87	Missense_Mutation	SNP	ENST00000521604.2	37	c.535G>C	CCDS47858.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349937	0.82132	.	.	ENSG00000187735	ENST00000396401;ENST00000521604	T;T	0.44083	0.93;0.93	5.15	5.15	0.70609	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.110622	0.64402	D	0.000014	T	0.67154	0.2863	M	0.80616	2.505	0.80722	D	1	D;D	0.60160	0.987;0.979	P;D	0.67725	0.886;0.953	T	0.71101	-0.4690	10	0.62326	D	0.03	-25.4072	18.9917	0.92794	0.0:1.0:0.0:0.0	.	158;179	P23193-2;P23193	.;TCEA1_HUMAN	Q	158;179	ENSP00000395483:E158Q;ENSP00000428426:E179Q	ENSP00000395483:E158Q	E	-	1	0	TCEA1	55059619	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.776000	0.85560	2.572000	0.86782	0.491000	0.48974	GAA		0.318	TCEA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377975.2	NM_006756		5	22	0	0	0	1	0	5	22				
SF1	7536	broad.mit.edu	37	11	64533419	64533419	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr11:64533419A>C	ENST00000377390.3	-	13	2128	c.1791T>G	c.(1789-1791)taT>taG	p.Y597*	SF1_ENST00000489544.1_5'Flank|SF1_ENST00000377394.3_Intron|SF1_ENST00000334944.5_Intron|SF1_ENST00000422298.2_Intron|SF1_ENST00000433274.2_Nonsense_Mutation_p.Y571*|SF1_ENST00000227503.9_Intron|SF1_ENST00000377387.1_Intron	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	597	Pro-rich.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGGGCGGGGCATACATCATGC	0.716																																						ENST00000377390.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.(1789-1791)taT>taG		splicing factor 1							9.0	9.0	9.0					11																	64533419		2141	4182	6323	SO:0001587	stop_gained	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64533419A>C	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.1791T>G	11.37:g.64533419A>C	ENSP00000366607:p.Tyr597*					SF1_ENST00000334944.5_Intron|SF1_ENST00000227503.9_Intron|SF1_ENST00000433274.2_Nonsense_Mutation_p.Y571*|SF1_ENST00000422298.2_Intron|SF1_ENST00000377387.1_Intron|SF1_ENST00000377394.3_Intron	p.Y597*	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN			13	2128	-			597			Pro-rich.		B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Nonsense_Mutation	SNP	ENST00000377390.3	37	c.1791T>G	CCDS31599.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	37|37	6.436548|6.436548	0.97564|0.97564	.|.	.|.	ENSG00000168066|ENSG00000168066	ENST00000413725|ENST00000377390;ENST00000433274	.|.	.|.	.|.	4.73|4.73	3.36|3.36	0.38483|0.38483	.|.	.|.	.|.	.|.	.|.	T|.	0.28863|.	0.0716|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.13980|.	-1.0489|.	4|.	.|0.02654	.|T	.|1	.|.	8.6186|8.6186	0.33847|0.33847	0.8902:0.0:0.1098:0.0|0.8902:0.0:0.1098:0.0	.|.	.|.	.|.	.|.	R|X	167|597;571	.|.	.|ENSP00000366607:Y597X	M|Y	-|-	2|3	0|2	SF1|SF1	64289995|64289995	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.298000|1.298000	0.33412|0.33412	1.781000|1.781000	0.52344|0.52344	0.454000|0.454000	0.30748|0.30748	ATG|TAT		0.716	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		5	8	0	0	0	1	0	5	8				
ARHGAP22	58504	broad.mit.edu	37	10	49791162	49791162	+	Missense_Mutation	SNP	G	G	A	rs200771176		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr10:49791162G>A	ENST00000249601.4	-	2	366	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R24W|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R30W	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	24					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGGGCTCCGGCTCTGCTCC	0.632																																						ENST00000249601.4																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(70-72)Cgg>Tgg		Rho GTPase activating protein 22		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	106.0	112.0	110.0		70	4.3	1.0	10		110	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ARHGAP22	NM_021226.2	101	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	24/699	49791162	3,13003	2203	4300	6503	SO:0001583	missense	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49791162G>A	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.70C>T	10.37:g.49791162G>A	ENSP00000249601:p.Arg24Trp					ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R24W|ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R30W	p.R24W	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN			2	366	-			24					A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	c.70C>T	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325650	0.81580	2.27E-4	2.33E-4	ENSG00000128805	ENST00000249601;ENST00000435790;ENST00000417912	T;T;T	0.11930	2.78;2.73;2.78	5.28	4.35	0.52113	.	0.508110	0.18857	N	0.129235	T	0.25158	0.0611	L	0.39898	1.24	0.26532	N	0.974232	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;P;P;P	0.64776	0.929;0.798;0.897;0.798	T	0.01670	-1.1299	10	0.72032	D	0.01	.	11.6655	0.51370	0.0:0.373:0.627:0.0	.	30;24;24;24	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3	.;.;.;RHG22_HUMAN	W	24;30;24	ENSP00000249601:R24W;ENSP00000416701:R30W;ENSP00000412461:R24W	ENSP00000249601:R24W	R	-	1	2	ARHGAP22	49461168	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	4.316000	0.59178	2.486000	0.83907	0.655000	0.94253	CGG		0.632	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		5	259	0	0	0	1	0	5	259				
PLXNA2	5362	broad.mit.edu	37	1	208252709	208252709	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:208252709C>T	ENST00000367033.3	-	12	3239	c.2482G>A	c.(2482-2484)Ggc>Agc	p.G828S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	828					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGCGCTCGCCGCTGCACCAG	0.617																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(2482-2484)Ggc>Agc		plexin A2							34.0	34.0	34.0					1																	208252709		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208252709C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2482G>A	1.37:g.208252709C>T	ENSP00000356000:p.Gly828Ser						p.G828S	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	12	3239	-			828					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.2482G>A	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.305689	0.23736	.	.	ENSG00000076356	ENST00000367033	T	0.60920	0.15	5.6	5.6	0.85130	.	0.267763	0.42821	D	0.000643	T	0.43545	0.1252	N	0.25426	0.745	0.50313	D	0.999864	B	0.26845	0.161	B	0.24006	0.05	T	0.42050	-0.9474	10	0.02654	T	1	.	19.6224	0.95663	0.0:1.0:0.0:0.0	.	828	O75051	PLXA2_HUMAN	S	828	ENSP00000356000:G828S	ENSP00000356000:G828S	G	-	1	0	PLXNA2	206319332	0.002000	0.14202	0.977000	0.42913	0.961000	0.63080	1.790000	0.38734	2.630000	0.89119	0.655000	0.94253	GGC		0.617	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		15	11	0	0	0	1	0	15	11				
EPPK1	83481	broad.mit.edu	37	8	144944662	144944662	+	Silent	SNP	G	G	A	rs558832291		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:144944662G>A	ENST00000525985.1	-	2	2831	c.2760C>T	c.(2758-2760)gaC>gaT	p.D920D				P58107	EPIPL_HUMAN	epiplakin 1	920						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCGGACGCCGTCCATGAGTA	0.667																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2758-2760)gaC>gaT		epiplakin 1							19.0	22.0	21.0					8																	144944662		2070	4176	6246	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144944662G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2760C>T	8.37:g.144944662G>A							p.D920D			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	2831	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		920					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.2760C>T																																																																																					0.667	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		51	30	0	0	0	1	0	51	30				
PDGFRA	5156	broad.mit.edu	37	4	55146617	55146617	+	Missense_Mutation	SNP	G	G	A	rs141047712		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr4:55146617G>A	ENST00000257290.5	+	16	2622	c.2291G>A	c.(2290-2292)cGt>cAt	p.R764H	FIP1L1_ENST00000507166.1_Missense_Mutation_p.R524H	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	764	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in dbSNP:rs34392012). {ECO:0000269|PubMed:17344846}.		adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CTCTATGATCGTCCAGCCTCA	0.388			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			G|||	1	0.000199681	0.0	0.0	5008	,	,		17679	0.0		0.0	False		,,,				2504	0.001				Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(2290-2292)cGt>cAt		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	G	HIS/ARG	0,4406		0,0,2203	67.0	63.0	64.0		2291	5.8	1.0	4	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PDGFRA	NM_006206.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	764/1090	55146617	2,13004	2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55146617G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2291G>A	4.37:g.55146617G>A	ENSP00000257290:p.Arg764His	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Missense_Mutation_p.R524H	p.R764H	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		16	2622	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		764		R -> C (in dbSNP:rs34392012).	Protein kinase.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.2291G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117054	0.56505	0.0	2.33E-4	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.80393	-1.37;-1.37	5.79	5.79	0.91817	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.31554	U	0.007455	T	0.75317	0.3833	L	0.34521	1.04	0.80722	D	1	B	0.16396	0.017	B	0.10450	0.005	T	0.68364	-0.5428	10	0.45353	T	0.12	.	20.0212	0.97504	0.0:0.0:1.0:0.0	.	764	P16234	PGFRA_HUMAN	H	524;764	ENSP00000423325:R524H;ENSP00000257290:R764H	ENSP00000423325:R524H	R	+	2	0	FIP1L1;PDGFRA	54841374	1.000000	0.71417	0.974000	0.42286	0.930000	0.56654	4.639000	0.61361	2.735000	0.93741	0.561000	0.74099	CGT		0.388	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		15	19	0	0	0	1	0	15	19				
SLC7A13	157724	broad.mit.edu	37	8	87242274	87242274	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:87242274C>A	ENST00000297524.3	-	1	336	c.233G>T	c.(232-234)gGa>gTa	p.G78V	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.G78V	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	78						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GTATTGAGCTCCACTGCATGG	0.488																																						ENST00000297524.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.(232-234)gGa>gTa		solute carrier family 7 (anionic amino acid transporter), member 13							64.0	62.0	63.0					8																	87242274		2203	4300	6503	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87242274C>A	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.233G>T	8.37:g.87242274C>A	ENSP00000297524:p.Gly78Val					SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.G78V	p.G78V	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN			1	336	-			78					Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.233G>T	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.203962	0.38905	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.94457	-3.43;-3.43	3.8	1.89	0.25635	Amino acid permease domain (1);	0.117452	0.37906	N	0.001888	D	0.96448	0.8841	M	0.85041	2.73	0.25026	N	0.991306	D;D	0.71674	0.998;0.979	D;P	0.69654	0.965;0.707	D	0.90733	0.4644	10	0.72032	D	0.01	.	8.5	0.33152	0.1716:0.6621:0.1663:0.0	.	78;78	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	V	78	ENSP00000297524:G78V;ENSP00000410982:G78V	ENSP00000297524:G78V	G	-	2	0	SLC7A13	87311390	0.951000	0.32395	0.002000	0.10522	0.141000	0.21300	1.095000	0.30964	0.512000	0.28257	0.514000	0.50259	GGA		0.488	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		23	84	1	0	5.26018e-13	1	5.46406e-13	23	84				
MOV10L1	54456	broad.mit.edu	37	22	50528923	50528923	+	Intron	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr22:50528923C>T	ENST00000262794.5	+	1	180				MOV10L1_ENST00000475190.1_Intron|MOV10L1_ENST00000395858.3_Intron|MOV10L1_ENST00000395843.1_Intron|MOV10L1_ENST00000545383.1_Intron|MOV10L1_ENST00000540615.1_Missense_Mutation_p.R7C	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1						ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CCTCCCTGTCCGCAGCGTCAT	0.612																																						ENST00000540615.1																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(19-21)Cgc>Tgc		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							46.0	47.0	46.0					22																	50528923		1568	3582	5150	SO:0001627	intron_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50528923C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.97+309C>T	22.37:g.50528923C>T						MOV10L1_ENST00000395843.1_Intron|MOV10L1_ENST00000395858.3_Intron|MOV10L1_ENST00000545383.1_Intron|MOV10L1_ENST00000262794.5_Intron|MOV10L1_ENST00000475190.1_Intron	p.R7C	NM_001164105.1	NP_001157577.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	1	239	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	0					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.19C>T	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	c	1.616	-0.522660	0.04141	.	.	ENSG00000073146	ENST00000540615;ENST00000428564	D	0.86097	-2.07	1.02	-2.03	0.07365	.	.	.	.	.	T	0.61311	0.2337	N	0.08118	0	0.09310	N	1	P;P	0.38048	0.616;0.616	B;B	0.23018	0.043;0.026	T	0.50039	-0.8874	9	0.59425	D	0.04	.	4.7896	0.13241	0.2148:0.5674:0.2178:0.0	.	7;7	F5H403;E7EPK8	.;.	C	7	ENSP00000438542:R7C	ENSP00000414305:R7C	R	+	1	0	MOV10L1	48871050	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.481000	0.06552	-2.457000	0.00539	-1.137000	0.01932	CGC		0.612	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		11	11	0	0	0	1	0	11	11				
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C	rs528924232		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:53856761T>C	ENST00000595091.1	+	5	3052	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000458035.1_Missense_Mutation_p.C945R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348																																						ENST00000458035.1																			1	Substitution - Missense(1)	p.C945R(1)	kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2833-2835)Tgt>Cgt		zinc finger protein 845							25.0	23.0	24.0					19																	53856761		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856761T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2833T>C	19.37:g.53856761T>C	ENSP00000470005:p.Cys945Arg					ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2950	+			945						Missense_Mutation	SNP	ENST00000595091.1	37	c.2833T>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	7.922	0.738844	0.15642	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	D	0.85258	-1.96	2.04	0.921	0.19403	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94417	0.8204	H	0.99336	4.52	0.38301	D	0.942985	D	0.89917	1.0	D	0.91635	0.999	D	0.91222	0.5007	9	0.66056	D	0.02	.	6.1858	0.20495	0.2258:0.0:0.0:0.7742	.	945	Q96IR2	ZN845_HUMAN	R	945;861	ENSP00000388311:C945R	ENSP00000412086:C861R	C	+	1	0	ZNF845	58548573	1.000000	0.71417	0.080000	0.20451	0.053000	0.15095	4.520000	0.60524	0.031000	0.15407	-0.871000	0.02989	TGT		0.348	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	32	0	0	0	1	0	3	32				
HDAC11	79885	broad.mit.edu	37	3	13546139	13546139	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr3:13546139G>A	ENST00000295757.3	+	10	1183	c.1000G>A	c.(1000-1002)Gca>Aca	p.A334T	HDAC11_ENST00000402271.1_Missense_Mutation_p.A255T|HDAC11_ENST00000522202.1_Missense_Mutation_p.A283T|HDAC11_ENST00000437379.2_Missense_Mutation_p.A306T|HDAC11_ENST00000433119.1_3'UTR|HDAC11_ENST00000404040.1_Missense_Mutation_p.A234T|HDAC11_ENST00000402259.1_Missense_Mutation_p.A168T|HDAC11_ENST00000446613.2_Missense_Mutation_p.A142T	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	334					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						CAGCGTCTCCGCACAGAACTC	0.607																																						ENST00000295757.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						c.(1000-1002)Gca>Aca		histone deacetylase 11							75.0	70.0	71.0					3																	13546139		2203	4300	6503	SO:0001583	missense	79885				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chr3:13546139G>A	AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.1000G>A	3.37:g.13546139G>A	ENSP00000295757:p.Ala334Thr					HDAC11_ENST00000446613.2_Missense_Mutation_p.A142T|HDAC11_ENST00000522202.1_Missense_Mutation_p.A283T|HDAC11_ENST00000404040.1_Missense_Mutation_p.A234T|HDAC11_ENST00000402259.1_Missense_Mutation_p.A168T|HDAC11_ENST00000402271.1_Missense_Mutation_p.A255T|HDAC11_ENST00000433119.1_3'UTR|HDAC11_ENST00000437379.2_Missense_Mutation_p.A306T	p.A334T	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN			10	1183	+			334					B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Missense_Mutation	SNP	ENST00000295757.3	37	c.1000G>A	CCDS2615.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508495	0.44660	.	.	ENSG00000163517	ENST00000295757;ENST00000402259;ENST00000402271;ENST00000446613;ENST00000404040;ENST00000522202;ENST00000437379	T;T;T;T;T;T;T	0.73575	-0.74;0.69;-0.76;0.71;-0.24;-0.74;-0.73	4.18	2.31	0.28768	.	0.284170	0.32868	N	0.005543	T	0.58807	0.2148	L	0.38531	1.155	0.09310	N	1	B;B	0.25312	0.123;0.059	B;B	0.10450	0.005;0.003	T	0.54186	-0.8331	10	0.87932	D	0	-0.2927	5.3741	0.16156	0.1103:0.2077:0.682:0.0	.	283;334	B4DDK1;Q96DB2	.;HDA11_HUMAN	T	334;168;255;142;234;283;306	ENSP00000295757:A334T;ENSP00000384706:A168T;ENSP00000384123:A255T;ENSP00000401487:A142T;ENSP00000385475:A234T;ENSP00000429794:A283T;ENSP00000395188:A306T	ENSP00000295757:A334T	A	+	1	0	HDAC11	13521139	0.020000	0.18652	0.035000	0.18076	0.388000	0.30384	1.274000	0.33132	0.665000	0.31066	0.561000	0.74099	GCA		0.607	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5	NM_024827		19	47	0	0	0	1	0	19	47				
PTPRT	11122	broad.mit.edu	37	20	41385106	41385106	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr20:41385106C>T	ENST00000373187.1	-	6	854	c.855G>A	c.(853-855)gtG>gtA	p.V285V	PTPRT_ENST00000356100.2_Silent_p.V285V|PTPRT_ENST00000373201.1_Silent_p.V285V|PTPRT_ENST00000373193.3_Silent_p.V285V|PTPRT_ENST00000373190.1_Silent_p.V285V|PTPRT_ENST00000373198.4_Silent_p.V285V|PTPRT_ENST00000373184.1_Silent_p.V285V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	285					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACTCACCTTTCACGATCAGCT	0.572																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(853-855)gtG>gtA		protein tyrosine phosphatase, receptor type, T							50.0	50.0	50.0					20																	41385106		2139	4241	6380	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41385106C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.855G>A	20.37:g.41385106C>T						PTPRT_ENST00000373201.1_Silent_p.V285V|PTPRT_ENST00000356100.2_Silent_p.V285V|PTPRT_ENST00000373184.1_Silent_p.V285V|PTPRT_ENST00000373190.1_Silent_p.V285V|PTPRT_ENST00000373187.1_Silent_p.V285V|PTPRT_ENST00000373193.3_Silent_p.V285V	p.V285V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			6	1090	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	285					A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.855G>A	CCDS42874.1																																																																																				0.572	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			11	24	0	0	0	1	0	11	24				
PXDNL	137902	broad.mit.edu	37	8	52412318	52412318	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:52412318G>C	ENST00000356297.4	-	5	493	c.393C>G	c.(391-393)ttC>ttG	p.F131L	PXDNL_ENST00000543296.1_Missense_Mutation_p.F131L	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	131					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTAGTTGGTTGAAATGAATAT	0.388																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(391-393)ttC>ttG		peroxidasin homolog (Drosophila)-like							149.0	144.0	145.0					8																	52412318		1840	4089	5929	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52412318G>C		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.393C>G	8.37:g.52412318G>C	ENSP00000348645:p.Phe131Leu					PXDNL_ENST00000543296.1_Missense_Mutation_p.F131L	p.F131L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			5	493	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	131					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.393C>G	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	1.891	-0.455383	0.04540	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.58060	0.36;0.36	4.88	3.03	0.35002	.	.	.	.	.	T	0.38825	0.1055	L	0.33137	0.985	0.25842	N	0.984041	P	0.42248	0.774	B	0.41135	0.348	T	0.12656	-1.0539	9	0.27785	T	0.31	.	5.7037	0.17897	0.1015:0.0:0.7048:0.1937	.	131	A1KZ92	PXDNL_HUMAN	L	131	ENSP00000348645:F131L;ENSP00000444865:F131L	ENSP00000348645:F131L	F	-	3	2	PXDNL	52574871	1.000000	0.71417	0.455000	0.27031	0.263000	0.26337	2.011000	0.40922	0.441000	0.26529	0.650000	0.86243	TTC		0.388	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		68	212	0	0	0	1	0	68	212				
SETDB1	9869	broad.mit.edu	37	1	150919402	150919402	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:150919402G>A	ENST00000271640.5	+	10	1371	c.1181G>A	c.(1180-1182)cGg>cAg	p.R394Q	SETDB1_ENST00000368969.4_Missense_Mutation_p.R394Q|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	394	Tudor 2.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGCTCTACACGGCTGGAGCCC	0.468																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1180-1182)cGg>cAg		SET domain, bifurcated 1							114.0	97.0	103.0					1																	150919402		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150919402G>A	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1181G>A	1.37:g.150919402G>A	ENSP00000271640:p.Arg394Gln					SETDB1_ENST00000368969.4_Missense_Mutation_p.R394Q|SETDB1_ENST00000459773.1_Intron	p.R394Q	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		10	1371	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		394			Tudor 2.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.1181G>A	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	37	6.028103	0.97216	.	.	ENSG00000143379	ENST00000271640;ENST00000534805;ENST00000368969;ENST00000498193	D;T;D;T	0.95554	-3.73;0.13;-3.74;-0.2	5.59	5.59	0.84812	Tudor domain (1);	0.000000	0.85682	D	0.000000	D	0.97281	0.9111	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.993;0.997;0.997;0.993	D	0.97536	1.0083	10	0.72032	D	0.01	.	19.6119	0.95610	0.0:0.0:1.0:0.0	.	394;394;394;394	E9PRF4;E9PQM8;Q15047-3;Q15047	.;.;.;SETB1_HUMAN	Q	394	ENSP00000271640:R394Q;ENSP00000436148:R394Q;ENSP00000357965:R394Q;ENSP00000432348:R394Q	ENSP00000271640:R394Q	R	+	2	0	SETDB1	149186026	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.575000	0.98187	2.648000	0.89879	0.563000	0.77884	CGG		0.468	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			4	53	0	0	0	1	0	4	53				
HUWE1	10075	broad.mit.edu	37	X	53563110	53563110	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chrX:53563110C>T	ENST00000342160.3	-	79	12986	c.12529G>A	c.(12529-12531)Gag>Aag	p.E4177K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E4177K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4177	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.E4067K(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGACCTACCTCAGTGCTGAAG	0.458																																						ENST00000342160.3																			1	Substitution - Missense(1)	p.E4067K(1)	upper_aerodigestive_tract(1)	NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(12529-12531)Gag>Aag		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							173.0	116.0	136.0					X																	53563110		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53563110C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12529G>A	X.37:g.53563110C>T	ENSP00000340648:p.Glu4177Lys					HUWE1_ENST00000262854.6_Missense_Mutation_p.E4177K	p.E4177K			Q7Z6Z7	HUWE1_HUMAN			79	12986	-			4177			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.12529G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439071	0.63067	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.57752	0.38;0.38	4.84	4.84	0.62591	HECT (4);	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	M	0.85542	2.76	0.80722	D	1	P;P	0.49961	0.93;0.913	D;P	0.65233	0.933;0.89	T	0.79443	-0.1801	10	0.72032	D	0.01	.	16.4218	0.83760	0.0:1.0:0.0:0.0	.	4177;4161	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	K	4177	ENSP00000340648:E4177K;ENSP00000262854:E4177K	ENSP00000262854:E4177K	E	-	1	0	HUWE1	53579835	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.231000	0.78106	2.333000	0.79357	0.594000	0.82650	GAG		0.458	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		14	7	0	0	0	1	0	14	7				
USP46	64854	broad.mit.edu	37	4	53464859	53464859	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr4:53464859C>G	ENST00000441222.3	-	8	1118	c.934G>C	c.(934-936)Ggg>Cgg	p.G312R	USP46_ENST00000451218.2_Missense_Mutation_p.G285R|USP46_ENST00000508499.1_Missense_Mutation_p.G305R	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	312	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			ATATAATGCCCACGATTAGGA	0.358																																						ENST00000441222.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12						c.(934-936)Ggg>Cgg		ubiquitin specific peptidase 46							74.0	66.0	69.0					4																	53464859		1840	4094	5934	SO:0001583	missense	64854				behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr4:53464859C>G	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.934G>C	4.37:g.53464859C>G	ENSP00000407818:p.Gly312Arg					USP46_ENST00000451218.2_Missense_Mutation_p.G285R|USP46_ENST00000508499.1_Missense_Mutation_p.G305R	p.G312R	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)		8	1118	-			312					B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	c.934G>C	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958503	0.74016	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.61158	0.13;0.13;0.13	5.06	4.22	0.49857	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000020	D	0.84866	0.5567	H	0.98754	4.32	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.996;0.995	D;D;D;D	0.83275	0.996;0.988;0.993;0.988	D	0.90043	0.4143	10	0.87932	D	0	-13.1039	13.0588	0.58996	0.0:0.9216:0.0:0.0784	.	196;300;312;305	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	R	312;285;305	ENSP00000407818:G312R;ENSP00000390102:G285R;ENSP00000423244:G305R	ENSP00000407818:G312R	G	-	1	0	USP46	53159616	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.776000	0.85560	1.273000	0.44346	-0.150000	0.13652	GGG		0.358	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		7	15	0	0	0	1	0	7	15				
NLRC5	84166	broad.mit.edu	37	16	57057739	57057739	+	Missense_Mutation	SNP	G	G	A	rs372272703		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr16:57057739G>A	ENST00000262510.6	+	5	623	c.398G>A	c.(397-399)cGg>cAg	p.R133Q	NLRC5_ENST00000539144.1_Missense_Mutation_p.R133Q|NLRC5_ENST00000308149.7_Missense_Mutation_p.R133Q|NLRC5_ENST00000436936.1_Missense_Mutation_p.R133Q	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	133					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.R133Q(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCACCCCGCCGGAAGCAGTGC	0.617																																						ENST00000436936.1																			1	Substitution - Missense(1)	p.R133Q(1)	central_nervous_system(1)	NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(397-399)cGg>cAg		NLR family, CARD domain containing 5		G	GLN/ARG	0,4396		0,0,2198	34.0	30.0	32.0		398	-5.1	0.0	16		32	2,8596	1.2+/-3.3	0,2,4297	no	missense	NLRC5	NM_032206.3	43	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	benign	133/1867	57057739	2,12992	2198	4299	6497	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57057739G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.398G>A	16.37:g.57057739G>A	ENSP00000262510:p.Arg133Gln					NLRC5_ENST00000308149.7_Missense_Mutation_p.R133Q|NLRC5_ENST00000262510.6_Missense_Mutation_p.R133Q|NLRC5_ENST00000539144.1_Missense_Mutation_p.R133Q	p.R133Q			Q86WI3	NLRC5_HUMAN			5	623	+		all_neural(199;0.225)	133					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.398G>A	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.541483	0.27563	0.0	2.33E-4	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	T;T;T;T	0.73469	-0.54;-0.57;-0.75;-0.57	4.62	-5.11	0.02901	.	1.854100	0.03598	N	0.232929	T	0.56978	0.2022	L	0.39898	1.24	0.09310	N	1	B	0.21688	0.059	B	0.11329	0.006	T	0.31392	-0.9945	10	0.14656	T	0.56	.	2.6191	0.04911	0.2497:0.2491:0.3991:0.1021	.	133	Q86WI3	NLRC5_HUMAN	Q	133	ENSP00000262510:R133Q;ENSP00000308886:R133Q;ENSP00000389739:R133Q;ENSP00000441727:R133Q	ENSP00000262510:R133Q	R	+	2	0	NLRC5	55615240	0.000000	0.05858	0.008000	0.14137	0.696000	0.40369	-1.769000	0.01792	-0.678000	0.05224	0.557000	0.71058	CGG		0.617	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		3	9	0	0	0	1	0	3	9				
ZNF324B	388569	broad.mit.edu	37	19	58967400	58967400	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:58967400C>T	ENST00000336614.4	+	4	1196	c.1089C>T	c.(1087-1089)caC>caT	p.H363H	ZNF324B_ENST00000545523.1_Silent_p.H363H|ZNF324B_ENST00000391696.1_Silent_p.H353H	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCAAGATCCACGCGGGTGGGC	0.662																																						ENST00000391696.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1057-1059)caC>caT		zinc finger protein 324B							12.0	13.0	12.0					19																	58967400		2184	4243	6427	SO:0001819	synonymous_variant	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58967400C>T	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.1089C>T	19.37:g.58967400C>T						ZNF324B_ENST00000545523.1_Silent_p.H363H|ZNF324B_ENST00000336614.4_Silent_p.H363H	p.H353H			Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	1991	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	363					B2RTZ6|Q6ZMX8|Q6ZS42	Silent	SNP	ENST00000336614.4	37	c.1059C>T	CCDS33138.1																																																																																				0.662	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		14	22	0	0	0	1	0	14	22				
TCTN3	26123	broad.mit.edu	37	10	97440280	97440280	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr10:97440280C>T	ENST00000371217.5	-	13	1562	c.1539G>A	c.(1537-1539)ccG>ccA	p.P513P	TCTN3_ENST00000430368.2_Silent_p.P365P|TCTN3_ENST00000265993.9_Silent_p.P531P			Q6NUS6	TECT3_HUMAN	tectonic family member 3	513					apoptotic process (GO:0006915)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P513P(2)|p.P335P(1)		breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		CATGAGCTTGCGGGTTGGACA	0.463																																						ENST00000265993.8																			3	Substitution - coding silent(3)	p.P513P(2)|p.P335P(1)	lung(3)	breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15						c.(1537-1539)ccG>ccA		tectonic family member 3							217.0	205.0	209.0					10																	97440280		2203	4300	6503	SO:0001819	synonymous_variant	26123				apoptosis	integral to membrane		g.chr10:97440280C>T	AK098295	CCDS31258.2, CCDS44461.1	10q24.1	2014-01-28	2007-08-20	2007-08-20	ENSG00000119977	ENSG00000119977		"""Tectonic proteins"""	24519	protein-coding gene	gene with protein product		613847	"""chromosome 10 open reading frame 61"""	C10orf61		12975309	Standard	NM_015631		Approved	DKFZP564D116, TECT3, JBTS18	uc001klb.4	Q6NUS6	OTTHUMG00000018814	ENST00000371217.5:c.1539G>A	10.37:g.97440280C>T						TCTN3_ENST00000371217.4_Silent_p.P526P|TCTN3_ENST00000430368.1_Silent_p.P365P	p.P513P	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)	13	1782	-		Colorectal(252;0.0815)	513					A6NIC8|B0QZ90|B4DR81|Q6P7P3|Q6UW27|Q6ZQQ0|Q8N7K1|Q8NBQ0|Q96GF7|Q9Y3U1	Silent	SNP	ENST00000371217.5	37	c.1539G>A	CCDS31258.2																																																																																				0.463	TCTN3-009	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000471858.1	NM_015631		4	208	0	0	0	1	0	4	208				
PRG4	10216	broad.mit.edu	37	1	186276532	186276532	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:186276532G>T	ENST00000445192.2	+	7	1726	c.1681G>T	c.(1681-1683)Gca>Tca	p.A561S	PRG4_ENST00000367486.3_Missense_Mutation_p.A518S|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.A468S|PRG4_ENST00000367483.4_Missense_Mutation_p.A520S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	561	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTGCACCCACCAC	0.637																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1681-1683)Gca>Tca		proteoglycan 4																																				SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276532G>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1681G>T	1.37:g.186276532G>T	ENSP00000399679:p.Ala561Ser					PRG4_ENST00000367485.4_Missense_Mutation_p.A468S|PRG4_ENST00000367486.3_Missense_Mutation_p.A518S|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.A520S	p.A561S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1726	+			561			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1681G>T	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	7.498	0.652108	0.14580	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.06849	3.25;3.38;3.25;3.38	3.73	-0.129	0.13502	.	.	.	.	.	T	0.06325	0.0163	L	0.52573	1.65	0.09310	N	1	B;B;B;B	0.25312	0.123;0.047;0.028;0.047	B;B;B;B	0.19391	0.025;0.025;0.011;0.025	T	0.41466	-0.9507	8	.	.	.	.	0.2335	0.00183	0.3277:0.2014:0.2672:0.2038	.	427;468;561;520	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	S	518;427;520;468;561	ENSP00000356456:A518S;ENSP00000356453:A520S;ENSP00000356455:A468S;ENSP00000399679:A561S	.	A	+	1	0	PRG4	184543155	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.091000	0.11146	0.194000	0.20326	0.442000	0.29010	GCA		0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		4	116	1	0	1	1	1	4	116				
FAM86B2	653333	broad.mit.edu	37	8	12286307	12286307	+	Missense_Mutation	SNP	T	T	C	rs2719492	byFrequency	TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:12286307T>C	ENST00000262365.4	-	6	576	c.577A>G	c.(577-579)Atc>Gtc	p.I193V	FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000393715.3_Intron|FAM86B2_ENST00000351291.4_Missense_Mutation_p.I159V	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	193										endometrium(1)|kidney(2)	3						TGCTCGAGGATCCGGCTGTGA	0.602													N|||	2149	0.429113	0.5151	0.4524	5008	,	,		12361	0.3998		0.3738	False		,,,				2504	0.3834					ENST00000262365.4																			0				endometrium(1)|kidney(2)	3						c.(577-579)Atc>Gtc		family with sequence similarity 86, member B2							25.0	25.0	25.0					8																	12286307		229	838	1067	SO:0001583	missense	653333							g.chr8:12286307T>C		CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.577A>G	8.37:g.12286307T>C	ENSP00000262365:p.Ile193Val					FAM86B2_ENST00000393715.3_Intron|FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000351291.4_Missense_Mutation_p.I159V	p.I193V	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN			6	576	-			193						Missense_Mutation	SNP	ENST00000262365.4	37	c.577A>G	CCDS59092.1	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.920349	0.00498	.	.	ENSG00000145002	ENST00000262365;ENST00000351291;ENST00000527331	T;T;T	0.16073	2.37;2.37;2.37	1.16	0.202	0.15190	.	.	.	.	.	T	0.02418	0.0074	N	0.00219	-1.825	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43814	-0.9368	9	0.02654	T	1	.	4.1295	0.10143	0.0:0.5837:0.2408:0.1755	.	193	P0C5J1	F86B2_HUMAN	V	193;159;159	ENSP00000262365:I193V;ENSP00000283479:I159V;ENSP00000432491:I159V	ENSP00000262365:I193V	I	-	1	0	FAM86B2	12330678	0.997000	0.39634	0.178000	0.23040	0.042000	0.13812	3.640000	0.54350	-0.331000	0.08501	-3.466000	0.00035	ATC		0.602	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_928336		3	32	0	0	0	1	0	3	32				
ZNF224	7767	broad.mit.edu	37	19	44611165	44611165	+	Silent	SNP	G	G	A	rs149917035		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:44611165G>A	ENST00000336976.6	+	6	1106	c.852G>A	c.(850-852)ggG>ggA	p.G284G	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	284					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TCCATACGGGGGAGAAGCCAT	0.428																																						ENST00000336976.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						c.(850-852)ggG>ggA		zinc finger protein 224							133.0	136.0	135.0					19																	44611165		2203	4300	6503	SO:0001819	synonymous_variant	7767				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:44611165G>A	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.852G>A	19.37:g.44611165G>A						AC084219.4_ENST00000592946.1_RNA	p.G284G	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN			6	1106	+		Prostate(69;0.0435)	284					A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Silent	SNP	ENST00000336976.6	37	c.852G>A	CCDS33046.1																																																																																				0.428	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		73	145	0	0	0	1	0	73	145				
STRN	6801	broad.mit.edu	37	2	37152277	37152277	+	Silent	SNP	T	T	C			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr2:37152277T>C	ENST00000263918.4	-	2	317	c.309A>G	c.(307-309)aaA>aaG	p.K103K	STRN_ENST00000379213.2_Silent_p.K91K	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	103					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				ACTCCAACATTTTGATCCTCC	0.393																																						ENST00000263918.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(307-309)aaA>aaG		striatin, calmodulin binding protein							87.0	89.0	88.0					2																	37152277		2203	4297	6500	SO:0001819	synonymous_variant	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37152277T>C	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.309A>G	2.37:g.37152277T>C						STRN_ENST00000379213.2_Silent_p.K91K	p.K103K	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN			2	317	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	103					Q3KP65|Q53TQ8|Q9NP38	Silent	SNP	ENST00000263918.4	37	c.309A>G	CCDS1784.1																																																																																				0.393	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			5	108	0	0	0	1	0	5	108				
YEATS2	55689	broad.mit.edu	37	3	183491577	183491577	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr3:183491577A>G	ENST00000305135.5	+	17	2558	c.2363A>G	c.(2362-2364)aAt>aGt	p.N788S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	788					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCTACGAACAATGCTAGTTAG	0.453																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(2362-2364)aAt>aGt		YEATS domain containing 2							95.0	92.0	93.0					3																	183491577		1941	4150	6091	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183491577A>G	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2363A>G	3.37:g.183491577A>G	ENSP00000306983:p.Asn788Ser						p.N788S	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		17	2558	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		788					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.2363A>G	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	A	3.033	-0.199185	0.06219	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.47177	0.85	5.72	-5.65	0.02459	.	0.820603	0.11434	N	0.564490	T	0.26593	0.0650	N	0.24115	0.695	0.26865	N	0.967877	B	0.02656	0.0	B	0.04013	0.001	T	0.29941	-0.9995	10	0.13853	T	0.58	-6.6774	11.5477	0.50702	0.4424:0.0932:0.4643:0.0	.	788	Q9ULM3	YETS2_HUMAN	S	788	ENSP00000306983:N788S	ENSP00000306983:N788S	N	+	2	0	YEATS2	184974271	0.979000	0.34478	0.227000	0.23927	0.274000	0.26718	0.263000	0.18478	-1.571000	0.01663	-1.139000	0.01908	AAT		0.453	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		26	37	0	0	0	1	0	26	37				
CCDC18	343099	broad.mit.edu	37	1	93680488	93680488	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:93680488G>C	ENST00000343253.7	+	12	2183	c.1681G>C	c.(1681-1683)Gag>Cag	p.E561Q	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.E680Q|CCDC18_ENST00000338949.4_Missense_Mutation_p.E361Q|CCDC18_ENST00000401026.3_Missense_Mutation_p.E562Q			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	561										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GGAGCTGCTAGAGAAAGCTTC	0.353																																						ENST00000343253.7																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(1681-1683)Gag>Cag		coiled-coil domain containing 18							31.0	30.0	30.0					1																	93680488		1836	4095	5931	SO:0001583	missense	343099							g.chr1:93680488G>C			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1681G>C	1.37:g.93680488G>C	ENSP00000343377:p.Glu561Gln					CCDC18_ENST00000401026.3_Missense_Mutation_p.E562Q|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_Missense_Mutation_p.E361Q|CCDC18_ENST00000557479.1_Missense_Mutation_p.E680Q	p.E561Q			Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	12	2183	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	561					Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.1681G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.31|19.31	3.802382|3.802382	0.70682|0.70682	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267|ENST00000370276	T;T;T;T;T|.	0.15372|.	2.43;2.43;2.43;2.43;2.43|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	0.185853|.	0.46145|.	D|.	0.000302|.	T|.	0.62134|.	0.2403|.	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D|.	0.65815|.	0.98;0.995|.	P;D|.	0.63877|.	0.726;0.919|.	T|.	0.62487|.	-0.6844|.	10|.	0.59425|.	D|.	0.04|.	.|.	13.7051|13.7051	0.62633|0.62633	0.0773:0.0:0.9227:0.0|0.0773:0.0:0.9227:0.0	.|.	561;680|.	Q5T9S5;G3V388|.	CCD18_HUMAN;.|.	Q|Y	561;562;680;361;281|614	ENSP00000343377:E561Q;ENSP00000383808:E562Q;ENSP00000451099:E680Q;ENSP00000344380:E361Q;ENSP00000391151:E281Q|.	ENSP00000344380:E361Q|.	E|X	+|+	1|3	0|2	CCDC18|CCDC18	93453076|93453076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	4.809000|4.809000	0.62591|0.62591	2.373000|2.373000	0.80994|0.80994	0.655000|0.655000	0.94253|0.94253	GAG|TAG		0.353	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		8	5	0	0	0	1	0	8	5				
DNMBP	23268	broad.mit.edu	37	10	101731859	101731859	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr10:101731859C>T	ENST00000324109.4	-	2	114	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	DNMBP_ENST00000342239.3_Missense_Mutation_p.R8Q	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	8	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AAAAATGGCTCGAACCACTGA	0.403																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(22-24)cGa>cAa		dynamin binding protein							86.0	88.0	87.0					10																	101731859		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101731859C>T	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.23G>A	10.37:g.101731859C>T	ENSP00000315659:p.Arg8Gln					DNMBP_ENST00000324109.4_Missense_Mutation_p.R8Q	p.R8Q			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	2	114	-		Colorectal(252;0.234)	8			SH3 1.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.23G>A	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	35	5.568909	0.96540	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.51325	0.71;0.71	4.93	4.93	0.64822	Src homology-3 domain (4);	0.000000	0.40554	N	0.001077	T	0.59473	0.2196	L	0.41079	1.255	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50800	-0.8785	10	0.18276	T	0.48	-8.9436	18.3335	0.90279	0.0:1.0:0.0:0.0	.	8	Q6XZF7	DNMBP_HUMAN	Q	8	ENSP00000344914:R8Q;ENSP00000315659:R8Q	ENSP00000315659:R8Q	R	-	2	0	DNMBP	101721849	1.000000	0.71417	0.945000	0.38365	0.984000	0.73092	7.523000	0.81856	2.571000	0.86741	0.555000	0.69702	CGA		0.403	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		39	69	0	0	0	1	0	39	69				
BMS1P20	96610	broad.mit.edu	37	22	22664240	22664240	+	RNA	SNP	T	T	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr22:22664240T>G	ENST00000426066.1	+	0	763					NR_027293.1				BMS1 pseudogene 20																		GATAAGCTGCTGATGAGCGGT	0.532																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664240T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664240T>G								NR_027293.1						0	763	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.532	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	70	0	0	0	1	0	4	70				
NHLH1	4807	broad.mit.edu	37	1	160340795	160340795	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:160340795A>T	ENST00000302101.5	+	2	720	c.274A>T	c.(274-276)Aac>Tac	p.N92Y		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	92	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAAGCCTTCAACCTGGCCTT	0.667																																						ENST00000302101.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7						c.(274-276)Aac>Tac		nescient helix loop helix 1							44.0	46.0	45.0					1																	160340795		2203	4300	6503	SO:0001583	missense	4807				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:160340795A>T	BC013789	CCDS1204.1	1q22	2013-05-21			ENSG00000171786	ENSG00000171786		"""Basic helix-loop-helix proteins"""	7817	protein-coding gene	gene with protein product		162360		HEN1			Standard	NM_005598		Approved	NSCL, NSCL1, bHLHa35	uc001fwa.2	Q02575	OTTHUMG00000033121	ENST00000302101.5:c.274A>T	1.37:g.160340795A>T	ENSP00000302189:p.Asn92Tyr						p.N92Y	NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	720	+	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		92			Helix-loop-helix motif.			Missense_Mutation	SNP	ENST00000302101.5	37	c.274A>T	CCDS1204.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.556076	0.86231	.	.	ENSG00000171786	ENST00000302101	D	0.99409	-5.85	4.19	4.19	0.49359	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	D	0.000011	D	0.99597	0.9854	H	0.94886	3.595	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.97960	1.0337	10	0.87932	D	0	-32.4716	12.5186	0.56046	1.0:0.0:0.0:0.0	.	92	Q02575	HEN1_HUMAN	Y	92	ENSP00000302189:N92Y	ENSP00000302189:N92Y	N	+	1	0	NHLH1	158607419	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.005000	0.93587	1.886000	0.54624	0.533000	0.62120	AAC		0.667	NHLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080676.1	NM_005598		24	44	0	0	0	1	0	24	44				
CPVL	54504	broad.mit.edu	37	7	29105701	29105701	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr7:29105701C>A	ENST00000409850.1	-	14	1547	c.901G>T	c.(901-903)Gat>Tat	p.D301Y	CPVL_ENST00000396276.3_Missense_Mutation_p.D301Y|CPVL_ENST00000265394.5_Missense_Mutation_p.D301Y			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	301						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TAAGAAGGATCACTTGTTAAG	0.343																																						ENST00000409850.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(901-903)Gat>Tat		carboxypeptidase, vitellogenic-like							119.0	118.0	118.0					7																	29105701		2203	4300	6503	SO:0001583	missense	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29105701C>A	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.901G>T	7.37:g.29105701C>A	ENSP00000387164:p.Asp301Tyr					CPVL_ENST00000396276.3_Missense_Mutation_p.D301Y|CPVL_ENST00000265394.5_Missense_Mutation_p.D301Y	p.D301Y			Q9H3G5	CPVL_HUMAN			14	1547	-			301					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.901G>T	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442378	0.43326	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000542995;ENST00000448959	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.42	2.49	0.30216	.	0.885454	0.10131	N	0.712089	T	0.11410	0.0278	N	0.01779	-0.725	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.22208	-1.0223	10	0.39692	T	0.17	-19.9985	4.2971	0.10906	0.2493:0.508:0.0:0.2426	.	301	Q9H3G5	CPVL_HUMAN	Y	301;301;301;185;231	ENSP00000265394:D301Y;ENSP00000379572:D301Y;ENSP00000387164:D301Y;ENSP00000409036:D231Y	ENSP00000265394:D301Y	D	-	1	0	CPVL	29072226	0.000000	0.05858	0.003000	0.11579	0.970000	0.65996	0.335000	0.19806	0.775000	0.33450	0.591000	0.81541	GAT		0.343	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		23	70	1	0	2.41591e-17	1	2.52916e-17	23	70				
SCN7A	6332	broad.mit.edu	37	2	167284441	167284441	+	Missense_Mutation	SNP	C	C	T	rs34324751	byFrequency	TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr2:167284441C>T	ENST00000409855.1	-	17	2836	c.2710G>A	c.(2710-2712)Gga>Aga	p.G904R		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	904					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AGTGAAGATCCGCGTCTGCAA	0.383													C|||	15	0.00299521	0.0098	0.0029	5008	,	,		17257	0.0		0.0	False		,,,				2504	0.0					ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(2710-2712)Gga>Aga		sodium channel, voltage-gated, type VII, alpha subunit		C	ARG/GLY	44,3674		0,44,1815	100.0	92.0	95.0		2710	-1.3	0.0	2	dbSNP_126	95	1,8193		0,1,4096	yes	missense	SCN7A	NM_002976.3	125	0,45,5911	TT,TC,CC		0.0122,1.1834,0.3778	benign	904/1683	167284441	45,11867	1859	4097	5956	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167284441C>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2710G>A	2.37:g.167284441C>T	ENSP00000386796:p.Gly904Arg						p.G904R	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			17	2836	-			904						Missense_Mutation	SNP	ENST00000409855.1	37	c.2710G>A	CCDS46442.1	6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	C	0.147	-1.095791	0.01858	0.011834	1.22E-4	ENSG00000136546	ENST00000409855;ENST00000259060	T	0.79141	-1.24	5.42	-1.33	0.09172	Sodium ion transport-associated (1);	0.568740	0.17065	N	0.188419	T	0.19485	0.0468	N	0.00165	-1.945	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48246	-0.9052	10	0.02654	T	1	.	0.1599	0.00102	0.2612:0.1724:0.2482:0.3183	rs34324751	904	Q01118	SCN7A_HUMAN	R	904	ENSP00000386796:G904R	ENSP00000259060:G904R	G	-	1	0	SCN7A	166992687	0.000000	0.05858	0.031000	0.17742	0.000000	0.00434	-0.313000	0.08103	0.113000	0.18004	-1.347000	0.01240	GGA		0.383	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			14	22	0	0	0	1	0	14	22				
PCDHB3	56132	broad.mit.edu	37	5	140481656	140481656	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr5:140481656G>A	ENST00000231130.2	+	1	1423	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	475	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTGTCAGCGCCACAGACAG	0.637																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1423-1425)Gcc>Acc									83.0	86.0	85.0					5																	140481656		2203	4298	6501	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481656G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1423G>A	5.37:g.140481656G>A	ENSP00000231130:p.Ala475Thr					AC005754.7_ENST00000607216.1_RNA	p.A475T	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1423	+			475			Cadherin 5.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1423G>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510592	0.85389	.	.	ENSG00000113205	ENST00000231130	T	0.61392	0.11	4.22	4.22	0.49857	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.82421	0.5033	H	0.94306	3.52	0.49389	D	0.999784	D	0.89917	1.0	D	0.97110	1.0	D	0.88448	0.3047	9	0.87932	D	0	.	16.6333	0.85039	0.0:0.0:1.0:0.0	.	475	Q9Y5E6	PCDB3_HUMAN	T	475	ENSP00000231130:A475T	ENSP00000231130:A475T	A	+	1	0	PCDHB3	140461840	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	4.731000	0.62022	2.080000	0.62538	0.558000	0.71614	GCC		0.637	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		166	80	0	0	0	1	0	166	80				
ADD2	119	broad.mit.edu	37	2	70933502	70933502	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr2:70933502C>T	ENST00000264436.4	-	3	483	c.39G>A	c.(37-39)ccG>ccA	p.P13P	ADD2_ENST00000430656.1_Silent_p.P29P|ADD2_ENST00000355733.3_Silent_p.P13P|ADD2_ENST00000473232.1_5'Flank|ADD2_ENST00000407644.2_Silent_p.P13P|ADD2_ENST00000413157.2_Silent_p.P13P	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	13					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCTGCGGGGGCGGCGGCGAGG	0.642																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(37-39)ccG>ccA		adducin 2 (beta)							43.0	48.0	46.0					2																	70933502		2202	4300	6502	SO:0001819	synonymous_variant	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70933502C>T	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.39G>A	2.37:g.70933502C>T						ADD2_ENST00000430656.1_Silent_p.P29P|ADD2_ENST00000355733.3_Silent_p.P13P|ADD2_ENST00000407644.2_Silent_p.P13P|ADD2_ENST00000413157.2_Silent_p.P13P	p.P13P	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			3	483	-			13					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	ENST00000264436.4	37	c.39G>A	CCDS1906.1																																																																																				0.642	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		35	59	0	0	0	1	0	35	59				
TMEM169	92691	broad.mit.edu	37	2	216964799	216964799	+	Missense_Mutation	SNP	C	C	T	rs201548005		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr2:216964799C>T	ENST00000295658.4	+	3	635	c.428C>T	c.(427-429)aCg>aTg	p.T143M	TMEM169_ENST00000437356.2_Missense_Mutation_p.T143M|TMEM169_ENST00000454545.1_Missense_Mutation_p.T143M|TMEM169_ENST00000406027.2_Missense_Mutation_p.T143M	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	143						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGAAACGACGCCTGAAGGA	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21322	0.0		0.0	False		,,,				2504	0.0					ENST00000454545.1																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13						c.(427-429)aCg>aTg		transmembrane protein 169							126.0	113.0	118.0					2																	216964799		2203	4300	6503	SO:0001583	missense	92691					integral to membrane		g.chr2:216964799C>T	AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.428C>T	2.37:g.216964799C>T	ENSP00000295658:p.Thr143Met					TMEM169_ENST00000406027.2_Missense_Mutation_p.T143M|TMEM169_ENST00000295658.4_Missense_Mutation_p.T143M|TMEM169_ENST00000437356.2_Missense_Mutation_p.T143M	p.T143M	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	754	+		Renal(323;0.0651)	143					B2R8W6	Missense_Mutation	SNP	ENST00000295658.4	37	c.428C>T	CCDS2401.1	.	.	.	.	.	.	.	.	.	.	C	3.054	-0.194714	0.06259	.	.	ENSG00000163449	ENST00000454545;ENST00000437356;ENST00000295658;ENST00000406027	.	.	.	4.93	2.11	0.27256	.	0.805550	0.12205	N	0.489853	T	0.25344	0.0616	L	0.29908	0.895	0.09310	N	1	B	0.17268	0.021	B	0.11329	0.006	T	0.22034	-1.0228	8	.	.	.	0.0043	3.0385	0.06130	0.1455:0.5473:0.1413:0.166	.	143	Q96HH4	TM169_HUMAN	M	143	.	.	T	+	2	0	TMEM169	216673044	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.597000	0.24059	0.253000	0.21552	-0.140000	0.14226	ACG		0.522	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256666.2	NM_138390		24	49	0	0	0	1	0	24	49				
HCK	3055	broad.mit.edu	37	20	30659561	30659561	+	Silent	SNP	G	G	A	rs202049705		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr20:30659561G>A	ENST00000520553.1	+	2	342	c.96G>A	c.(94-96)ccG>ccA	p.P32P	HCK_ENST00000518730.1_Silent_p.P32P|HCK_ENST00000375862.2_Silent_p.P53P|HCK_ENST00000534862.1_Silent_p.P33P|HCK_ENST00000375852.2_Silent_p.P53P|HCK_ENST00000538448.1_Silent_p.P32P	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	53					cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	TGTACGTGCCGGATCCCACAT	0.577																																						ENST00000534862.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(97-99)ccG>ccA		hemopoietic cell kinase							83.0	67.0	72.0					20																	30659561		2203	4300	6503	SO:0001819	synonymous_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30659561G>A	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.96G>A	20.37:g.30659561G>A						HCK_ENST00000518730.1_Silent_p.P32P|HCK_ENST00000375862.2_Silent_p.P53P|HCK_ENST00000375852.2_Silent_p.P53P|HCK_ENST00000520553.1_Silent_p.P32P|HCK_ENST00000538448.1_Silent_p.P32P	p.P33P	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	462	+			53					A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.99G>A	CCDS54455.1																																																																																				0.577	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			21	32	0	0	0	1	0	21	32				
SLX4	84464	broad.mit.edu	37	16	3639181	3639181	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr16:3639181C>T	ENST00000294008.3	-	12	5098	c.4458G>A	c.(4456-4458)agG>agA	p.R1486R		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1486	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTTGCAATTTCCTCTGGGTAG	0.642								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(4456-4458)agG>agA	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							96.0	112.0	107.0					16																	3639181		2197	4300	6497	SO:0001819	synonymous_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3639181C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4458G>A	16.37:g.3639181C>T							p.R1486R	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	5098	-			1486			Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.4458G>A	CCDS10506.2																																																																																				0.642	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		120	208	0	0	0	1	0	120	208				
PTPRU	10076	broad.mit.edu	37	1	29651716	29651716	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:29651716C>T	ENST00000345512.3	+	30	4285	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C	PTPRU_ENST00000428026.2_Missense_Mutation_p.R1373C|PTPRU_ENST00000356870.3_Missense_Mutation_p.R1382C|PTPRU_ENST00000460170.2_Missense_Mutation_p.R1380C|PTPRU_ENST00000323874.8_Missense_Mutation_p.R1382C|PTPRU_ENST00000373779.3_Missense_Mutation_p.R1376C	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1386	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CGGGGGAGGACGCAGCGGCAC	0.592																																						ENST00000356870.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(4144-4146)Cgc>Tgc		protein tyrosine phosphatase, receptor type, U							79.0	75.0	76.0					1																	29651716		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29651716C>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.4156C>T	1.37:g.29651716C>T	ENSP00000334941:p.Arg1386Cys					PTPRU_ENST00000460170.2_Missense_Mutation_p.R1380C|PTPRU_ENST00000345512.3_Missense_Mutation_p.R1386C|PTPRU_ENST00000428026.2_Missense_Mutation_p.R1373C|PTPRU_ENST00000323874.8_Missense_Mutation_p.R1382C|PTPRU_ENST00000373779.3_Missense_Mutation_p.R1376C	p.R1382C	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	30	4254	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	1386			Tyrosine-protein phosphatase 2.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.4144C>T	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068112	0.55539	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53	4.1	3.15	0.36227	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000002	T	0.81108	0.4754	H	0.98629	4.285	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;1.0	D	0.86578	0.1852	9	.	.	.	.	11.2513	0.49028	0.0:0.9081:0.0:0.0919	.	1373;1380;1376;1382;1386	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	C	1386;1376;1382;1382;1373;1380	ENSP00000334941:R1386C;ENSP00000362884:R1376C;ENSP00000349333:R1382C;ENSP00000314987:R1382C;ENSP00000392332:R1373C;ENSP00000432906:R1380C	.	R	+	1	0	PTPRU	29524303	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	4.737000	0.62066	2.097000	0.63578	0.561000	0.74099	CGC		0.592	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			27	68	0	0	0	1	0	27	68				
FAM83C	128876	broad.mit.edu	37	20	33875503	33875503	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr20:33875503G>A	ENST00000374408.3	-	4	1175	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374443.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	360										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GAGGTAGGAGGAGCGACCCAT	0.652																																						ENST00000374408.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1078-1080)tCc>tTc		family with sequence similarity 83, member C							136.0	109.0	118.0					20																	33875503		2203	4300	6503	SO:0001583	missense	128876							g.chr20:33875503G>A	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1079C>T	20.37:g.33875503G>A	ENSP00000363529:p.Ser360Phe						p.S360F	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1175	-			360					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.1079C>T	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495669	0.44352	.	.	ENSG00000125998	ENST00000374408	T	0.09255	3.0	4.53	4.53	0.55603	.	0.171925	0.28290	N	0.015898	T	0.25754	0.0627	M	0.70595	2.14	0.48571	D	0.99967	D	0.62365	0.991	P	0.55112	0.769	T	0.01280	-1.1397	10	0.72032	D	0.01	-13.2361	14.9173	0.70807	0.0:0.0:1.0:0.0	.	360	Q9BQN1	FA83C_HUMAN	F	360	ENSP00000363529:S360F	ENSP00000363529:S360F	S	-	2	0	FAM83C	33338917	1.000000	0.71417	0.021000	0.16686	0.293000	0.27360	4.295000	0.59049	2.519000	0.84933	0.561000	0.74099	TCC		0.652	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			19	23	0	0	0	1	0	19	23				
NELL2	4753	broad.mit.edu	37	12	45269630	45269630	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr12:45269630C>T	ENST00000429094.2	-	1	527	c.23G>A	c.(22-24)aGa>aAa	p.R8K	NELL2_ENST00000551601.1_5'UTR|NELL2_ENST00000549027.1_5'UTR|NELL2_ENST00000437801.2_Missense_Mutation_p.R58K|NELL2_ENST00000395487.2_5'Flank|NELL2_ENST00000548826.1_Missense_Mutation_p.R8K|NELL2_ENST00000452445.2_Missense_Mutation_p.R8K|NELL2_ENST00000333837.4_Missense_Mutation_p.R31K	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	8						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACAGAATGTTCTCAGTAAGAC	0.542																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(22-24)aGa>aAa		NEL-like 2 (chicken)							91.0	99.0	96.0					12																	45269630		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45269630C>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.23G>A	12.37:g.45269630C>T	ENSP00000390680:p.Arg8Lys					NELL2_ENST00000549027.1_5'UTR|NELL2_ENST00000548826.1_Missense_Mutation_p.R8K|NELL2_ENST00000452445.2_Missense_Mutation_p.R8K|NELL2_ENST00000333837.4_Missense_Mutation_p.R31K|NELL2_ENST00000437801.2_Missense_Mutation_p.R58K|NELL2_ENST00000551601.1_5'UTR	p.R8K	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	1	527	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	8					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.23G>A	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	6.881	0.532051	0.13127	.	.	ENSG00000184613	ENST00000429094;ENST00000452445;ENST00000333837;ENST00000437801;ENST00000552993;ENST00000548826;ENST00000551949	T;T;T;D;T;T;T	0.81659	-1.45;-1.45;-1.4;-1.52;2.79;1.58;-1.22	4.95	1.92	0.25849	.	0.555536	0.18063	N	0.152883	T	0.55146	0.1902	N	0.08118	0	0.80722	D	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.45629	-0.9248	10	0.05959	T	0.93	-8.1736	7.8159	0.29258	0.0:0.7062:0.1339:0.1599	.	31;58;8;8	B7Z2U7;B7Z9U3;B3KTI3;Q99435	.;.;.;NELL2_HUMAN	K	8;8;31;58;8;8;8	ENSP00000390680:R8K;ENSP00000394612:R8K;ENSP00000327988:R31K;ENSP00000416341:R58K;ENSP00000447085:R8K;ENSP00000448635:R8K;ENSP00000446961:R8K	ENSP00000327988:R31K	R	-	2	0	NELL2	43555897	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.542000	0.23222	0.596000	0.29794	0.650000	0.86243	AGA		0.542	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		53	77	0	0	0	1	0	53	77				
ITGB2	3689	broad.mit.edu	37	21	46320369	46320369	+	Missense_Mutation	SNP	C	C	T	rs200206541		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr21:46320369C>T	ENST00000397850.2	-	8	1215	c.763G>A	c.(763-765)Gtc>Atc	p.V255I	ITGB2_ENST00000397852.1_Missense_Mutation_p.V255I|ITGB2_ENST00000302347.5_Missense_Mutation_p.V255I|ITGB2_ENST00000397857.1_Missense_Mutation_p.V255I|ITGB2_ENST00000397854.3_Missense_Mutation_p.V198I|ITGB2_ENST00000355153.4_Missense_Mutation_p.V255I			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	255	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGCCGCGTGACGTTGCGCCAG	0.647																																						ENST00000397850.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(763-765)Gtc>Atc		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)						54.0	53.0	53.0					21																	46320369		2203	4300	6503	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320369C>T	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.763G>A	21.37:g.46320369C>T	ENSP00000380948:p.Val255Ile					ITGB2_ENST00000302347.5_Missense_Mutation_p.V255I|ITGB2_ENST00000397854.3_Missense_Mutation_p.V198I|ITGB2_ENST00000397852.1_Missense_Mutation_p.V255I|ITGB2_ENST00000397857.1_Missense_Mutation_p.V255I|ITGB2_ENST00000355153.4_Missense_Mutation_p.V255I	p.V255I			P05107	ITB2_HUMAN		Colorectal(79;0.0669)	8	1215	-			255			VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.763G>A	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491853	0.84962	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000545414;ENST00000320216	D;D;D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13	4.98	4.98	0.66077	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	.	.	.	.	D	0.94506	0.8231	M	0.83953	2.67	0.51233	D	0.99991	D;P	0.56746	0.977;0.576	P;B	0.51974	0.686;0.163	D	0.95062	0.8196	9	0.66056	D	0.02	.	15.7916	0.78369	0.0:1.0:0.0:0.0	.	198;255	A8MYE6;P05107	.;ITB2_HUMAN	I	255;255;198;255;255;255;198;246	ENSP00000380950:V255I;ENSP00000380955:V255I;ENSP00000380952:V198I;ENSP00000347279:V255I;ENSP00000380948:V255I;ENSP00000303242:V255I;ENSP00000317697:V246I	ENSP00000303242:V255I	V	-	1	0	ITGB2	45144797	0.995000	0.38212	0.984000	0.44739	0.894000	0.52154	3.375000	0.52410	2.593000	0.87608	0.655000	0.94253	GTC		0.647	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		16	53	0	0	0	1	0	16	53				
TNFRSF10A	8797	broad.mit.edu	37	8	23069663	23069663	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:23069663C>T	ENST00000221132.3	-	2	433	c.369G>A	c.(367-369)tgG>tgA	p.W123*		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	123					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GGCTATGTTCCCATTGCTGTG	0.458																																						ENST00000221132.3																			0				NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16						c.(367-369)tgG>tgA		tumor necrosis factor receptor superfamily, member 10a							247.0	197.0	214.0					8																	23069663		2203	4300	6503	SO:0001587	stop_gained	8797				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding	g.chr8:23069663C>T	U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.369G>A	8.37:g.23069663C>T	ENSP00000221132:p.Trp123*						p.W123*	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)	2	433	-		Prostate(55;0.0421)|Breast(100;0.14)	123					A8K5I4|Q53Y72|Q96E62	Nonsense_Mutation	SNP	ENST00000221132.3	37	c.369G>A	CCDS6039.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856413	0.32791	.	.	ENSG00000104689	ENST00000221132	.	.	.	1.92	-1.07	0.09968	.	2.841700	0.04736	U	0.421945	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	5.0735	0.14618	0.0:0.4846:0.0:0.5154	.	.	.	.	X	123	.	ENSP00000221132:W123X	W	-	3	0	TNFRSF10A	23125608	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.184000	0.16939	-0.325000	0.08577	-0.373000	0.07131	TGG		0.458	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2	NM_003844		25	74	0	0	0	1	0	25	74				
KRT16P6	353194	broad.mit.edu	37	17	16723975	16723975	+	RNA	SNP	T	T	C			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr17:16723975T>C	ENST00000417510.1	-	0	691																											GCAAACTCGCTTGGTGCGGAA	0.537																																						ENST00000417510.1																			0																																																			353194							g.chr17:16723975T>C																													17.37:g.16723975T>C														0	691	-									RNA	SNP	ENST00000417510.1	37																																																																																						0.537	AC022596.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131123.1			7	45	0	0	0	1	0	7	45				
LILRB3	11025	broad.mit.edu	37	19	54723043	54723043	+	Missense_Mutation	SNP	A	A	G	rs548285509|rs534509003	byFrequency	TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:54723043A>G	ENST00000391750.1	-	9	1517	c.1381T>C	c.(1381-1383)Ttc>Ctc	p.F461L	LILRA6_ENST00000270464.5_Missense_Mutation_p.F461L|LILRB3_ENST00000245620.9_Missense_Mutation_p.F461L|LILRB3_ENST00000346401.6_Missense_Mutation_p.F473L|LILRB3_ENST00000407860.2_Missense_Mutation_p.F478L|LILRA6_ENST00000419410.2_Missense_Mutation_p.F461L|LILRB3_ENST00000424807.1_Missense_Mutation_p.F461L|LILRA6_ENST00000440558.2_Missense_Mutation_p.F461L|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000469273.1_5'UTR			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	461					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		aggaggaggaagaggaggagg	0.597													.|||	2	0.000399361	0.0	0.0	5008	,	,		16625	0.0		0.001	False		,,,				2504	0.001					ENST00000391750.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.(1381-1383)Ttc>Ctc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3							200.0	139.0	159.0					19																	54723043		2203	4300	6503	SO:0001583	missense	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54723043A>G	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1381T>C	19.37:g.54723043A>G	ENSP00000375630:p.Phe461Leu					LILRA6_ENST00000440558.2_Missense_Mutation_p.F461L|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.F461L|LILRB3_ENST00000245620.9_Missense_Mutation_p.F461L|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000424807.1_Missense_Mutation_p.F461L|LILRB3_ENST00000407860.2_Missense_Mutation_p.F478L|LILRA6_ENST00000270464.5_Missense_Mutation_p.F461L|LILRB3_ENST00000346401.6_Missense_Mutation_p.F473L	p.F461L			O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	9	1517	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		461					C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	c.1381T>C	CCDS33105.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663095	0.29515	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410	T;T;T;T;T;T;T;T	0.00509	7.01;7.01;6.91;7.0;7.02;6.95;6.98;6.96	2.56	-5.12	0.02893	.	1.856750	0.03801	N	0.264442	T	0.00384	0.0012	L	0.41906	1.305	0.09310	N	0.999999	B;B;B;B;B;B;B	0.32573	0.376;0.011;0.005;0.001;0.217;0.012;0.021	B;B;B;B;B;B;B	0.31946	0.114;0.021;0.004;0.001;0.138;0.008;0.01	T	0.40534	-0.9558	10	0.19147	T	0.46	.	5.5334	0.16997	0.245:0.3182:0.4368:0.0	.	478;461;461;473;478;461;461	B5MCX0;F8WCY4;D3YTC4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;.;LIRB3_HUMAN;.	L	461;461;473;461;478;461;461;461	ENSP00000375630:F461L;ENSP00000412771:F461L;ENSP00000345184:F473L;ENSP00000245620:F461L;ENSP00000384274:F478L;ENSP00000390120:F461L;ENSP00000270464:F461L;ENSP00000411227:F461L	ENSP00000270464:F461L	F	-	1	0	LILRB3;LILRA6	59414855	0.000000	0.05858	0.001000	0.08648	0.190000	0.23558	-1.754000	0.01816	-1.598000	0.01607	0.367000	0.22151	TTC		0.597	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		3	31	0	0	0	1	0	3	31				
DAAM2	23500	broad.mit.edu	37	6	39866669	39866669	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:39866669A>G	ENST00000398904.2	+	22	2817	c.2635A>G	c.(2635-2637)Aag>Gag	p.K879E	RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000437947.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.K879E|DAAM2_ENST00000538976.1_Missense_Mutation_p.K879E			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	879	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGAACTGGAGAAGGAGGTGGG	0.587																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(2635-2637)Aag>Gag		dishevelled associated activator of morphogenesis 2							76.0	92.0	87.0					6																	39866669		2050	4184	6234	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39866669A>G	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2635A>G	6.37:g.39866669A>G	ENSP00000381876:p.Lys879Glu					DAAM2_ENST00000274867.4_Missense_Mutation_p.K879E|DAAM2_ENST00000398904.2_Missense_Mutation_p.K879E|RP11-61I13.3_ENST00000437947.1_RNA	p.K879E	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			22	2817	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		879			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.2635A>G	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.906027	0.72868	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.17054	2.3;2.3;2.3	5.35	5.35	0.76521	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.118235	0.53938	D	0.000046	T	0.15435	0.0372	M	0.84683	2.71	0.80722	D	1	B;B	0.30146	0.116;0.27	B;B	0.27380	0.053;0.079	T	0.03202	-1.1061	10	0.87932	D	0	.	12.9441	0.58364	1.0:0.0:0.0:0.0	.	879;879	G5EA45;Q86T65	.;DAAM2_HUMAN	E	879	ENSP00000274867:K879E;ENSP00000381876:K879E;ENSP00000437808:K879E	ENSP00000274867:K879E	K	+	1	0	DAAM2	39974647	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.735000	0.91549	2.247000	0.74100	0.533000	0.62120	AAG		0.587	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			9	14	0	0	0	1	0	9	14				
TSHZ3	57616	broad.mit.edu	37	19	31770258	31770258	+	Silent	SNP	G	G	A	rs530960780	byFrequency	TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:31770258G>A	ENST00000240587.4	-	2	768	c.441C>T	c.(439-441)aaC>aaT	p.N147N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	147	Ser-rich.				in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgctgctgccgttgTTCTTCT	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		18207	0.002		0.0	False		,,,				2504	0.0					ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(439-441)aaC>aaT		teashirt zinc finger homeobox 3							62.0	66.0	65.0					19																	31770258		2196	4289	6485	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770258G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.441C>T	19.37:g.31770258G>A							p.N147N	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	768	-	Esophageal squamous(110;0.226)		147			Ser-rich.		Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.441C>T	CCDS12421.2																																																																																				0.602	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		3	36	0	0	0	1	0	3	36				
TRIM15	89870	broad.mit.edu	37	6	30131821	30131821	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:30131821C>T	ENST00000376694.4	+	1	829	c.360C>T	c.(358-360)gaC>gaT	p.D120D	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	120					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GGTTCCTGGACGAGGCCATTC	0.582																																						ENST00000376694.4																			0				large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						c.(358-360)gaC>gaT		tripartite motif containing 15							68.0	56.0	60.0					6																	30131821		1510	2709	4219	SO:0001819	synonymous_variant	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30131821C>T	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.360C>T	6.37:g.30131821C>T						TRIM15_ENST00000376688.1_Intron	p.D120D	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN			1	829	+			120					A2BEC9|O95604|Q8IUX9|Q9C018	Silent	SNP	ENST00000376694.4	37	c.360C>T	CCDS4677.1																																																																																				0.582	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		29	33	0	0	0	1	0	29	33				
COL11A2	1302	broad.mit.edu	37	6	33144527	33144527	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:33144527C>T	ENST00000374708.4	-	24	2086	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K	COL11A2_ENST00000374714.1_Missense_Mutation_p.E670K|COL11A2_ENST00000357486.1_Missense_Mutation_p.E675K|COL11A2_ENST00000374713.1_Missense_Mutation_p.E649K|COL11A2_ENST00000361917.1_Missense_Mutation_p.E589K|COL11A2_ENST00000374712.1_Missense_Mutation_p.E615K|COL11A2_ENST00000341947.2_Missense_Mutation_p.E696K|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.E636K	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	696	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGGGACCTTCCTTCCCTGGG	0.537																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(2086-2088)Gaa>Aaa		collagen, type XI, alpha 2							91.0	95.0	94.0					6																	33144527		2203	4300	6503	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33144527C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1828G>A	6.37:g.33144527C>T	ENSP00000363840:p.Glu610Lys					COL11A2_ENST00000395197.1_Missense_Mutation_p.E636K|COL11A2_ENST00000374708.4_Missense_Mutation_p.E610K|COL11A2_ENST00000374714.1_Missense_Mutation_p.E670K|COL11A2_ENST00000374712.1_Missense_Mutation_p.E615K|COL11A2_ENST00000361917.1_Missense_Mutation_p.E589K|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.E675K|COL11A2_ENST00000374713.1_Missense_Mutation_p.E649K	p.E696K	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			26	2313	-			696			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.2086G>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617186	0.87359	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.86936	0.6053	N	0.01729	-0.75	0.58432	D	0.999999	D;P;D	0.71674	0.984;0.862;0.998	D;P;D	0.71870	0.973;0.802;0.975	D	0.90586	0.4533	10	0.48119	T	0.1	.	12.5655	0.56308	0.0:1.0:0.0:0.0	.	589;610;696	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	K	610;696;675;670;649;636;615;589	ENSP00000363840:E610K;ENSP00000339915:E696K;ENSP00000350079:E675K;ENSP00000363846:E670K;ENSP00000363845:E649K;ENSP00000378623:E636K;ENSP00000363844:E615K;ENSP00000355123:E589K	ENSP00000339915:E696K	E	-	1	0	COL11A2	33252505	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	5.229000	0.65316	2.352000	0.79861	0.549000	0.68633	GAA		0.537	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			13	18	0	0	0	1	0	13	18				
HAUS6	54801	broad.mit.edu	37	9	19087116	19087116	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr9:19087116C>G	ENST00000380502.3	-	6	1090	c.623G>C	c.(622-624)tGt>tCt	p.C208S	HAUS6_ENST00000380496.1_Missense_Mutation_p.C72S|Y_RNA_ENST00000364248.1_RNA	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	208					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAATCCTATACATTCAGATCT	0.338																																						ENST00000380502.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(622-624)tGt>tCt		HAUS augmin-like complex, subunit 6							151.0	142.0	145.0					9																	19087116		2203	4300	6503	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19087116C>G	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.623G>C	9.37:g.19087116C>G	ENSP00000369871:p.Cys208Ser					HAUS6_ENST00000380496.1_Missense_Mutation_p.C72S	p.C208S	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN			6	1090	-			208					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.623G>C	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	0.263	-0.998018	0.02145	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	T;T	0.21932	1.98;1.98	5.18	-0.024	0.13941	.	0.607987	0.19753	N	0.106857	T	0.18718	0.0449	M	0.73598	2.24	0.21627	N	0.999615	B;P	0.45827	0.037;0.867	B;B	0.39027	0.018;0.288	T	0.12863	-1.0531	10	0.45353	T	0.12	1.0106	4.3684	0.11235	0.1519:0.495:0.0:0.3531	.	72;208	Q5VY60;Q7Z4H7	.;HAUS6_HUMAN	S	208;72	ENSP00000369871:C208S;ENSP00000369865:C72S	ENSP00000369865:C72S	C	-	2	0	HAUS6	19077116	0.127000	0.22367	0.177000	0.23020	0.148000	0.21650	-0.289000	0.08365	0.023000	0.15187	0.591000	0.81541	TGT		0.338	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		15	65	0	0	0	1	0	15	65				
TONSL	4796	broad.mit.edu	37	8	145661384	145661384	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:145661384G>A	ENST00000409379.3	-	17	2461	c.2432C>T	c.(2431-2433)cCg>cTg	p.P811L	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	811					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GTGGCCCCGCGGTGGGCCAGG	0.721																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(2431-2433)cCg>cTg		tonsoku-like, DNA repair protein							6.0	9.0	8.0					8																	145661384		2151	4210	6361	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145661384G>A		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.2432C>T	8.37:g.145661384G>A	ENSP00000386239:p.Pro811Leu					AC084125.4_ENST00000544423.1_RNA	p.P811L	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			17	2461	-			811					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.2432C>T	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	G	8.559	0.877378	0.17395	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.46063	0.88	4.34	-2.66	0.06077	.	0.549143	0.17879	N	0.158903	T	0.19248	0.0462	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14504	-1.0470	10	0.30854	T	0.27	-0.2932	11.024	0.47734	0.6865:0.0:0.3135:0.0	.	811	Q96HA7	TONSL_HUMAN	L	811;810	ENSP00000386239:P811L	ENSP00000386239:P811L	P	-	2	0	TONSL	145632192	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.139000	0.16036	-0.526000	0.06383	-0.657000	0.03884	CCG		0.721	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		22	9	0	0	0	1	0	22	9				
TMEM175	84286	broad.mit.edu	37	4	952220	952220	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr4:952220A>C	ENST00000264771.4	+	11	1636	c.1451A>C	c.(1450-1452)cAc>cCc	p.H484P	TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P|TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	484						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.H484P(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGCCCGAACACCCCCCGCCA	0.736																																						ENST00000264771.4																			1	Substitution - Missense(1)	p.H484P(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(1450-1452)cAc>cCc		transmembrane protein 175							7.0	10.0	9.0					4																	952220		2108	4121	6229	SO:0001583	missense	84286					integral to membrane		g.chr4:952220A>C	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.1451A>C	4.37:g.952220A>C	ENSP00000264771:p.His484Pro					TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P|TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P	p.H484P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		11	1636	+			484					D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.1451A>C	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	A	6.831	0.522566	0.13066	.	.	ENSG00000127419	ENST00000264771;ENST00000515740;ENST00000508204	T;T;T	0.44083	1.52;1.51;0.93	3.52	-7.04	0.01578	.	3.825800	0.01085	U	0.005077	T	0.17109	0.0411	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24048	-1.0171	10	0.34782	T	0.22	-15.717	8.4105	0.32640	0.4546:0.1236:0.4219:0.0	.	402;484	D3DVN5;Q9BSA9	.;TM175_HUMAN	P	484;368;402	ENSP00000264771:H484P;ENSP00000427039:H368P;ENSP00000423669:H402P	ENSP00000264771:H484P	H	+	2	0	TMEM175	942220	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.007000	0.03667	-2.236000	0.00713	-0.589000	0.04120	CAC		0.736	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		6	11	0	0	0	1	0	6	11				
ZC3H13	23091	broad.mit.edu	37	13	46559722	46559722	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr13:46559722C>T	ENST00000242848.4	-	10	1778	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R477Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	477	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CCTTGAGTCCCGCATGTCTCT	0.527																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(1429-1431)cGg>cAg		zinc finger CCCH-type containing 13							189.0	187.0	188.0					13																	46559722		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46559722C>T	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1430G>A	13.37:g.46559722C>T	ENSP00000242848:p.Arg477Gln					ZC3H13_ENST00000282007.3_Missense_Mutation_p.R477Q	p.R477Q			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	10	1778	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	477			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1430G>A		.	.	.	.	.	.	.	.	.	.	C	18.23	3.578166	0.65878	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.46451	1.8;0.87	5.82	5.82	0.92795	.	0.000000	0.56097	D	0.000040	T	0.56761	0.2007	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.52238	-0.8602	10	0.42905	T	0.14	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	477;477	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Q	477;477;293	ENSP00000242848:R477Q;ENSP00000282007:R477Q	ENSP00000242848:R477Q	R	-	2	0	ZC3H13	45457723	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.114000	0.71560	2.752000	0.94435	0.655000	0.94253	CGG		0.527	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		5	239	0	0	0	1	0	5	239				
TET2	54790	broad.mit.edu	37	4	106156608	106156608	+	Silent	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr4:106156608G>A	ENST00000540549.1	+	3	2369	c.1509G>A	c.(1507-1509)gaG>gaA	p.E503E	TET2_ENST00000380013.4_Silent_p.E503E|TET2_ENST00000305737.2_Silent_p.E503E|TET2_ENST00000513237.1_Silent_p.E524E|TET2_ENST00000545826.1_Silent_p.E503E|TET2_ENST00000413648.2_Silent_p.E503E|TET2_ENST00000394764.1_Silent_p.E503E			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	503					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TGTGTTCTGAGAAAACAAGAC	0.453			"""Mis N, F"""		MDS																																	ENST00000540549.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(1507-1509)gaG>gaA		tet methylcytosine dioxygenase 2							83.0	79.0	81.0					4																	106156608		2203	4300	6503	SO:0001819	synonymous_variant	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106156608G>A	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1509G>A	4.37:g.106156608G>A						TET2_ENST00000380013.4_Silent_p.E503E|TET2_ENST00000394764.1_Silent_p.E503E|TET2_ENST00000305737.2_Silent_p.E503E|TET2_ENST00000413648.2_Silent_p.E503E|TET2_ENST00000545826.1_Silent_p.E503E|TET2_ENST00000513237.1_Silent_p.E524E	p.E503E			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	2369	+		Myeloproliferative disorder(5;0.0393)	503					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	ENST00000540549.1	37	c.1509G>A	CCDS47120.1																																																																																				0.453	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		22	59	0	0	0	1	0	22	59				
NQO1	1728	broad.mit.edu	37	16	69746949	69746949	+	Silent	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr16:69746949G>A	ENST00000320623.5	-	5	1012	c.501C>T	c.(499-501)gtC>gtT	p.V167V	NQO1_ENST00000561500.1_Silent_p.V129V|NQO1_ENST00000439109.2_Intron|NQO1_ENST00000564043.1_Silent_p.V146V|NQO1_ENST00000379046.2_Silent_p.V129V|CTD-2033A16.1_ENST00000562696.1_RNA|NQO1_ENST00000379047.3_Intron	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	167					aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	GCCAGAGAATGACATTCATGT	0.463																																						ENST00000320623.5																			0				autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10						c.(499-501)gtC>gtT		NAD(P)H dehydrogenase, quinone 1	Dicumarol(DB00266)|Menadione(DB00170)						156.0	153.0	154.0					16																	69746949		2198	4300	6498	SO:0001819	synonymous_variant	1728				nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity	g.chr16:69746949G>A	M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"""diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"""	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.501C>T	16.37:g.69746949G>A						NQO1_ENST00000379047.3_Intron|NQO1_ENST00000379046.2_Silent_p.V129V|NQO1_ENST00000564043.1_Silent_p.V146V|NQO1_ENST00000561500.1_Silent_p.V129V|NQO1_ENST00000439109.2_Intron	p.V167V	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN			5	1012	-			167					B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Silent	SNP	ENST00000320623.5	37	c.501C>T	CCDS10883.1																																																																																				0.463	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268956.2			92	175	0	0	0	1	0	92	175				
PLCB4	5332	broad.mit.edu	37	20	9449252	9449252	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr20:9449252A>G	ENST00000378493.1	+	32	3262	c.3247A>G	c.(3247-3249)Att>Gtt	p.I1083V	PLCB4_ENST00000334005.3_Missense_Mutation_p.I1083V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.I1095V|PLCB4_ENST00000378473.3_Missense_Mutation_p.I1095V|PLCB4_ENST00000278655.4_Missense_Mutation_p.I1083V|PLCB4_ENST00000378501.2_Missense_Mutation_p.I1083V			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1083					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCAGGCTAAGATTTCTATGGA	0.413																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(3247-3249)Att>Gtt		phospholipase C, beta 4							156.0	152.0	153.0					20																	9449252		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9449252A>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3247A>G	20.37:g.9449252A>G	ENSP00000367754:p.Ile1083Val					PLCB4_ENST00000278655.4_Missense_Mutation_p.I1083V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.I1095V|PLCB4_ENST00000414679.2_Missense_Mutation_p.I1095V|PLCB4_ENST00000334005.3_Missense_Mutation_p.I1083V|PLCB4_ENST00000378493.1_Missense_Mutation_p.I1083V	p.I1083V	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			32	3262	+			1083					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.3247A>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	10.96	1.497381	0.26861	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.42131	0.98;0.98;2.03;2.03;0.98;0.98	5.75	5.75	0.90469	.	0.174525	0.49916	N	0.000131	T	0.23492	0.0568	N	0.11560	0.145	0.43025	D	0.994588	B;B;B;B	0.14805	0.001;0.011;0.001;0.002	B;B;B;B	0.12156	0.002;0.005;0.0;0.007	T	0.13442	-1.0509	10	0.19590	T	0.45	.	11.1791	0.48616	0.8628:0.0:0.0:0.1372	.	1095;930;1083;1083	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	V	1083;1095;1083;1083;1083;931	ENSP00000334105:I1083V;ENSP00000367734:I1095V;ENSP00000278655:I1083V;ENSP00000367754:I1083V;ENSP00000367762:I1083V;ENSP00000390616:I931V	ENSP00000278655:I1083V	I	+	1	0	PLCB4	9397252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.437000	0.59955	2.193000	0.70182	0.533000	0.62120	ATT		0.413	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			4	163	0	0	0	1	0	4	163				
CASP9	842	broad.mit.edu	37	1	15844869	15844869	+	Missense_Mutation	SNP	G	G	A	rs201284755		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:15844869G>A	ENST00000333868.5	-	2	248	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	CASP9_ENST00000469637.1_5'UTR|CASP9_ENST00000348549.5_Missense_Mutation_p.R52W|CASP9_ENST00000546424.1_Missense_Mutation_p.R52W|CASP9_ENST00000375890.4_5'UTR	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	52	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		GCCTGATCCCGCCGAGATCCA	0.522																																						ENST00000546424.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18						c.(154-156)Cgg>Tgg		caspase 9, apoptosis-related cysteine peptidase							50.0	54.0	52.0					1																	15844869		2203	4300	6503	SO:0001583	missense	842				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	g.chr1:15844869G>A	U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 56"""	602234	"""caspase 9, apoptosis-related cysteine protease"""			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.154C>T	1.37:g.15844869G>A	ENSP00000330237:p.Arg52Trp					CASP9_ENST00000333868.5_Missense_Mutation_p.R52W|CASP9_ENST00000375890.4_5'UTR|CASP9_ENST00000348549.5_Missense_Mutation_p.R52W|CASP9_ENST00000469637.1_5'UTR	p.R52W			P55211	CASP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)	2	398	-		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	52			CARD.		B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Missense_Mutation	SNP	ENST00000333868.5	37	c.154C>T	CCDS158.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130516	0.56828	.	.	ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000348549;ENST00000440484	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.59	2.33	0.28932	DEATH-like (2);Caspase Recruitment (3);	0.222920	0.44688	N	0.000437	T	0.49558	0.1564	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.984;0.997;0.994	T	0.52968	-0.8504	10	0.72032	D	0.01	.	10.9858	0.47520	0.0:0.0:0.4112:0.5888	.	52;52;52	P55211-2;P55211;F8VVS7	.;CASP9_HUMAN;.	W	52	ENSP00000449584:R52W;ENSP00000330237:R52W;ENSP00000255256:R52W;ENSP00000411304:R52W	ENSP00000330237:R52W	R	-	1	2	CASP9	15717456	0.654000	0.27367	0.998000	0.56505	0.918000	0.54935	0.494000	0.22467	0.675000	0.31264	0.563000	0.77884	CGG		0.522	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	NM_032996		4	50	0	0	0	1	0	4	50				
SFMBT2	57713	broad.mit.edu	37	10	7214470	7214470	+	Missense_Mutation	SNP	G	G	A	rs370792160		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr10:7214470G>A	ENST00000361972.4	-	18	2228	c.2138C>T	c.(2137-2139)gCg>gTg	p.A713V	SFMBT2_ENST00000397167.1_Missense_Mutation_p.A713V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	713					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.A713V(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCCCGAGCCCGCGGTGAAGTC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		15746	0.0		0.0	False		,,,				2504	0.001					ENST00000361972.4																			1	Substitution - Missense(1)	p.A713V(1)	large_intestine(1)	NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(2137-2139)gCg>gTg		Scm-like with four mbt domains 2		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	41.0	40.0	40.0		2138,2138	4.4	0.0	10		40	1,8599		0,1,4299	no	missense,missense	SFMBT2	NM_001018039.1,NM_001029880.2	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	713/895,713/895	7214470	1,13005	2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7214470G>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2138C>T	10.37:g.7214470G>A	ENSP00000355109:p.Ala713Val					SFMBT2_ENST00000397167.1_Missense_Mutation_p.A713V	p.A713V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			18	2228	-			713					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.2138C>T	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476187	0.26511	0.0	1.16E-4	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.15017	2.46;2.46	5.37	4.44	0.53790	.	1.258710	0.05613	N	0.578467	T	0.13756	0.0333	N	0.22421	0.69	0.53688	D	0.999979	B	0.16166	0.016	B	0.04013	0.001	T	0.05402	-1.0887	10	0.29301	T	0.29	.	9.0495	0.36367	0.078:0.1496:0.7724:0.0	.	713	Q5VUG0	SMBT2_HUMAN	V	713	ENSP00000355109:A713V;ENSP00000380353:A713V	ENSP00000355109:A713V	A	-	2	0	SFMBT2	7254476	0.488000	0.25996	0.001000	0.08648	0.013000	0.08279	3.761000	0.55242	1.206000	0.43276	0.484000	0.47621	GCG		0.637	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		20	27	0	0	0	1	0	20	27				
KRT33B	3884	broad.mit.edu	37	17	39521784	39521784	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr17:39521784G>A	ENST00000251646.3	-	4	659	c.610C>T	c.(610-612)Cag>Tag	p.Q204*		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	204	Linker 12.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCTCCAAGCTGGCAGCGCAAG	0.507																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(610-612)Cag>Tag		keratin 33B							51.0	52.0	52.0					17																	39521784		2191	4300	6491	SO:0001587	stop_gained	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521784G>A	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.610C>T	17.37:g.39521784G>A	ENSP00000251646:p.Gln204*						p.Q204*	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			4	659	-		Breast(137;0.000496)	204			Linker 12.|Rod.		O76010	Nonsense_Mutation	SNP	ENST00000251646.3	37	c.610C>T	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	g	25.4	4.639006	0.87760	.	.	ENSG00000131738	ENST00000251646	.	.	.	4.51	4.51	0.55191	.	0.102646	0.44097	D	0.000500	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.7327	0.85439	0.0:0.0:1.0:0.0	.	.	.	.	X	204	.	ENSP00000251646:Q204X	Q	-	1	0	KRT33B	36775310	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	7.447000	0.80620	2.474000	0.83562	0.650000	0.86243	CAG		0.507	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		22	34	0	0	0	1	0	22	34				
EEF1A1	1915	broad.mit.edu	37	6	74227628	74227628	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:74227628T>A	ENST00000316292.9	-	7	2285	c.1294A>T	c.(1294-1296)Aca>Tca	p.T432S	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.T432S|EEF1A1_ENST00000309268.6_Missense_Mutation_p.T432S	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	432					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						ACCGCAACTGTCTGTCTCATA	0.403											OREG0003893	type=REGULATORY REGION|Gene=BC038897|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.(1294-1296)Aca>Tca		eukaryotic translation elongation factor 1 alpha 1							42.0	44.0	43.0					6																	74227628		2203	4300	6503	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74227628T>A	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.1294A>T	6.37:g.74227628T>A	ENSP00000339063:p.Thr432Ser		OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_ENST00000309268.6_Missense_Mutation_p.T432S|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.T432S	p.T432S	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			7	2285	-			432					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.1294A>T	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.534829	0.45073	.	.	ENSG00000156508	ENST00000316292;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.56275	0.47;0.47;0.47	4.81	4.81	0.61882	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (2);Translation elongation factor EFTu/EF1A, C-terminal (2);	0.000000	0.85682	U	0.000000	T	0.54663	0.1872	H	0.95079	3.62	0.80722	D	1	B;B;B	0.18166	0.026;0.026;0.026	B;B;B	0.24541	0.054;0.054;0.054	T	0.66929	-0.5799	10	0.87932	D	0	.	11.932	0.52851	0.0:0.0:0.1449:0.8551	.	432;432;432	P68104;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;EF1A3_HUMAN	S	432;432;432;411	ENSP00000339063:T432S;ENSP00000339053:T432S;ENSP00000330054:T432S	ENSP00000339053:T432S	T	-	1	0	EEF1A1	74284349	1.000000	0.71417	0.997000	0.53966	0.894000	0.52154	7.617000	0.83032	1.929000	0.55896	0.454000	0.30748	ACA		0.403	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		19	25	0	0	0	1	0	19	25				
MTSS1	9788	broad.mit.edu	37	8	125565869	125565869	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:125565869C>G	ENST00000518547.1	-	14	2105	c.1632G>C	c.(1630-1632)aaG>aaC	p.K544N	MTSS1_ENST00000524090.1_Missense_Mutation_p.K434N|MTSS1_ENST00000378017.3_Missense_Mutation_p.K519N|MTSS1_ENST00000325064.5_Missense_Mutation_p.K548N|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000354184.4_Missense_Mutation_p.K262N|MTSS1_ENST00000431961.2_Missense_Mutation_p.K262N|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000395508.2_Missense_Mutation_p.K318N	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	544					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TGGTGGAGGACTTGTCGAACT	0.493																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(1630-1632)aaG>aaC		metastasis suppressor 1							75.0	56.0	63.0					8																	125565869		2203	4300	6503	SO:0001583	missense	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125565869C>G	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.1632G>C	8.37:g.125565869C>G	ENSP00000429064:p.Lys544Asn					MTSS1_ENST00000524090.1_Missense_Mutation_p.K434N|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000431961.2_Missense_Mutation_p.K262N|MTSS1_ENST00000395508.2_Missense_Mutation_p.K318N|MTSS1_ENST00000378017.3_Missense_Mutation_p.K519N|MTSS1_ENST00000354184.4_Missense_Mutation_p.K262N|MTSS1_ENST00000325064.5_Missense_Mutation_p.K548N|NDUFB9_ENST00000522532.1_Intron	p.K544N	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		14	2105	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		544					J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	c.1632G>C	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.33|13.33	2.205956|2.205956	0.39003|0.39003	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000354184;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090|ENST00000519168	T;T;T;T;T;T;T|.	0.53857|.	0.68;0.6;0.78;0.75;0.6;0.78;0.66|.	5.63|5.63	-7.24|-7.24	0.01475|0.01475	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73621|0.73621	0.3610|0.3610	M|M	0.67397|0.67397	2.05|2.05	0.41287|0.41287	D|D	0.986959|0.986959	D;D;D;D;D;D;D|.	0.89917|.	0.999;1.0;1.0;0.999;1.0;1.0;0.999|.	D;D;D;D;D;D;D|.	0.91635|.	0.941;0.999;0.997;0.994;0.998;0.996;0.995|.	T|T	0.75473|0.75473	-0.3305|-0.3305	10|5	0.39692|.	T|.	0.17|.	-19.1855|-19.1855	21.5158|21.5158	0.99955|0.99955	0.0:0.7484:0.0:0.2516|0.0:0.7484:0.0:0.2516	.|.	434;318;519;544;519;262;193|.	E7EWW5;B7Z3B6;A5YM41;O43312;O43312-4;O43312-2;Q6ZTG0|.	.;.;.;MTSS1_HUMAN;.;.;.|.	N|L	519;544;262;318;548;262;434|332	ENSP00000367256:K519N;ENSP00000429064:K544N;ENSP00000346119:K262N;ENSP00000378884:K318N;ENSP00000322804:K548N;ENSP00000393606:K262N;ENSP00000428319:K434N|.	ENSP00000322804:K548N|.	K|V	-|-	3|1	2|0	MTSS1|MTSS1	125635050|125635050	0.462000|0.462000	0.25791|0.25791	0.722000|0.722000	0.30670|0.30670	0.016000|0.016000	0.09150|0.09150	-0.209000|-0.209000	0.09358|0.09358	-1.546000|-1.546000	0.01717|0.01717	0.313000|0.313000	0.20887|0.20887	AAG|GTC		0.493	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		55	33	0	0	0	1	0	55	33				
COL6A2	1292	broad.mit.edu	37	21	47546022	47546022	+	Missense_Mutation	SNP	G	G	A	rs369344885		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr21:47546022G>A	ENST00000300527.4	+	26	2397	c.2293G>A	c.(2293-2295)Gag>Aag	p.E765K	COL6A2_ENST00000357838.4_Missense_Mutation_p.E765K|COL6A2_ENST00000409416.1_Missense_Mutation_p.E765K|COL6A2_ENST00000397763.1_Missense_Mutation_p.E765K|COL6A2_ENST00000310645.5_Missense_Mutation_p.E765K	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	765	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CATGTTCCACGAGAAGCACGA	0.617																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2293-2295)Gag>Aag		collagen, type VI, alpha 2		G	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	186.0	178.0	181.0		2293,2293,2293	1.9	1.0	21		181	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	56,56,56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	765/1020,765/919,765/829	47546022	2,13004	2203	4300	6503	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47546022G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2293G>A	21.37:g.47546022G>A	ENSP00000300527:p.Glu765Lys					COL6A2_ENST00000357838.4_Missense_Mutation_p.E765K|COL6A2_ENST00000409416.1_Missense_Mutation_p.E765K|COL6A2_ENST00000310645.5_Missense_Mutation_p.E765K|COL6A2_ENST00000397763.1_Missense_Mutation_p.E765K	p.E765K	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	26	2397	+	Breast(49;0.245)		765			Nonhelical region.|VWFA 2.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2293G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650480	0.29336	0.0	2.33E-4	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	3.84	1.93	0.25924	von Willebrand factor, type A (3);	0.382752	0.29783	N	0.011203	T	0.53690	0.1812	N	0.02721	-0.515	0.32967	D	0.521819	B;B;B	0.19445	0.036;0.004;0.022	B;B;B	0.12156	0.007;0.003;0.003	T	0.51903	-0.8646	10	0.06625	T	0.88	-25.0127	5.4881	0.16761	0.186:0.3569:0.4571:0.0	.	765;765;765	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	K	765	ENSP00000300527:E765K;ENSP00000350497:E765K;ENSP00000312529:E765K;ENSP00000387115:E765K;ENSP00000380870:E765K	ENSP00000300527:E765K	E	+	1	0	COL6A2	46370450	0.997000	0.39634	0.962000	0.40283	0.949000	0.60115	2.345000	0.44018	0.566000	0.29273	0.491000	0.48974	GAG		0.617	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			139	239	0	0	0	1	0	139	239				
MEF2B	100271849	broad.mit.edu	37	19	19261525	19261525	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:19261525T>C	ENST00000602424.2	-	4	746	c.20A>G	c.(19-21)cAg>cGg	p.Q7R	MEF2B_ENST00000409224.1_Missense_Mutation_p.Q7R|MEF2B_ENST00000410050.1_Missense_Mutation_p.Q7R|MEF2B_ENST00000424583.2_Missense_Mutation_p.Q7R|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.Q24R|MEF2B_ENST00000409447.2_Missense_Mutation_p.Q7R|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.Q7R|MEF2B_ENST00000162023.5_Missense_Mutation_p.Q7R|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	7	Lys-rich (basic).|MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GCGGGAGATCTGGATTTTTTT	0.562																																						ENST00000602424.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(19-21)cAg>cGg		myocyte enhancer factor 2B							198.0	150.0	166.0					19																	19261525		2203	4300	6503	SO:0001583	missense	100271849							g.chr19:19261525T>C	X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"""Myocyte enhancer factors"""	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.20A>G	19.37:g.19261525T>C	ENSP00000473308:p.Gln7Arg					MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.Q24R|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.Q7R|MEF2B_ENST00000409224.1_Missense_Mutation_p.Q7R|MEF2B_ENST00000424583.2_Missense_Mutation_p.Q7R|MEF2B_ENST00000410050.1_Missense_Mutation_p.Q7R|MEF2B_ENST00000409447.2_Missense_Mutation_p.Q7R|MEF2B_ENST00000162023.5_Missense_Mutation_p.Q7R	p.Q7R	NM_005919.3	NP_005910.1			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)		4	746	-								A0AV80|B4DVH7|B7ZVY1|G5E9M1	Missense_Mutation	SNP	ENST00000602424.2	37	c.20A>G	CCDS12394.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.091656	0.55968	.	.	ENSG00000213999	ENST00000409224;ENST00000424583;ENST00000410050;ENST00000444486;ENST00000409447;ENST00000162023	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	4.27	4.27	0.50696	Transcription factor, MADS-box (5);	0.000000	0.64402	D	0.000004	D	0.86772	0.6013	L	0.49699	1.58	0.45946	D	0.998772	B;B;D;P;B	0.57899	0.227;0.227;0.981;0.584;0.167	B;B;D;B;B	0.65140	0.118;0.076;0.932;0.234;0.076	D	0.87757	0.2596	10	0.87932	D	0	-21.5906	11.6256	0.51142	0.0:0.0:0.0:1.0	.	7;54;7;7;7	Q02080;B8ZZJ5;C9J4J4;G5E9M1;B3KQ23	MEF2B_HUMAN;.;.;.;.	R	7;7;7;7;54;7	ENSP00000386480:Q7R;ENSP00000402154:Q7R;ENSP00000386374:Q7R;ENSP00000390762:Q7R;ENSP00000162023:Q7R	ENSP00000162023:Q7R	Q	-	2	0	MEF2B	19122525	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.943000	0.75934	1.692000	0.51112	0.402000	0.26972	CAG		0.562	MEF2B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_005919		19	37	0	0	0	1	0	19	37				
RIPK4	54101	broad.mit.edu	37	21	43161651	43161651	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr21:43161651T>A	ENST00000352483.2	-	9	1910	c.1846A>T	c.(1846-1848)Aag>Tag	p.K616*	RIPK4_ENST00000544709.1_Nonsense_Mutation_p.K505*|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.K505*|RIPK4_ENST00000332512.3_Nonsense_Mutation_p.K568*			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	616					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAGGCATCCTTGCCCTGCAGG	0.677																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1846-1848)Aag>Tag		receptor-interacting serine-threonine kinase 4							42.0	39.0	40.0					21																	43161651		2203	4299	6502	SO:0001587	stop_gained	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161651T>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1846A>T	21.37:g.43161651T>A	ENSP00000330161:p.Lys616*					RIPK4_ENST00000542057.1_Nonsense_Mutation_p.K505*|RIPK4_ENST00000332512.3_Nonsense_Mutation_p.K568*|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.K505*	p.K616*			Q96T11	Q96T11_HUMAN			9	1910	-			568					Q96KH0	Nonsense_Mutation	SNP	ENST00000352483.2	37	c.1846A>T		.	.	.	.	.	.	.	.	.	.	T	37	6.353948	0.97498	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	.	.	.	4.99	3.81	0.43845	.	0.087525	0.48286	D	0.000186	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-46.043	10.2329	0.43266	0.0:0.0:0.3211:0.6789	.	.	.	.	X	568;616;505;505;307	.	ENSP00000330975:K307X	K	-	1	0	RIPK4	42034720	1.000000	0.71417	0.755000	0.31263	0.817000	0.46193	3.281000	0.51685	0.714000	0.32081	0.533000	0.62120	AAG		0.677	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		29	48	0	0	0	1	0	29	48				
CAPN15	6650	broad.mit.edu	37	16	599054	599054	+	Missense_Mutation	SNP	C	C	T	rs553495909		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr16:599054C>T	ENST00000219611.2	+	5	1874	c.1511C>T	c.(1510-1512)gCg>gTg	p.A504V	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	504	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGCTTCCCCGCGGGTGACAGC	0.642													c|||	1	0.000199681	0.0	0.0	5008	,	,		12771	0.0		0.001	False		,,,				2504	0.0					ENST00000219611.2																			0											c.(1510-1512)gCg>gTg		calpain 15							98.0	93.0	95.0					16																	599054		2197	4297	6494	SO:0001583	missense	6650							g.chr16:599054C>T	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.1511C>T	16.37:g.599054C>T	ENSP00000219611:p.Ala504Val					LA16c-366D1.3_ENST00000565879.1_RNA	p.A504V	NM_005632.2	NP_005623.1					5	1874	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.1511C>T	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	c	7.685	0.689889	0.15039	.	.	ENSG00000103326	ENST00000219611	D	0.87729	-2.29	5.04	-3.43	0.04810	Peptidase C2, calpain, catalytic domain (3);	0.436708	0.27176	N	0.020575	T	0.71693	0.3370	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.56780	-0.7922	10	0.44086	T	0.13	.	6.4207	0.21742	0.2824:0.1498:0.0:0.5678	.	504	O75808	CAN15_HUMAN	V	504	ENSP00000219611:A504V	ENSP00000219611:A504V	A	+	2	0	SOLH	539055	0.958000	0.32768	0.002000	0.10522	0.039000	0.13416	1.303000	0.33470	-0.897000	0.03910	-1.010000	0.02471	GCG		0.642	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		53	137	0	0	0	1	0	53	137				
HRAS	3265	broad.mit.edu	37	11	534286	534286	+	Missense_Mutation	SNP	C	C	A	rs104894228		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr11:534286C>A	ENST00000451590.1	-	2	224	c.37G>T	c.(37-39)Ggt>Tgt	p.G13C	HRAS_ENST00000397594.1_Missense_Mutation_p.G13C|HRAS_ENST00000311189.7_Missense_Mutation_p.G13C|HRAS_ENST00000417302.1_Missense_Mutation_p.G13C|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G13C	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		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.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(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		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)		TTGCCCACACCGCCGGCGCCC	0.642		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"""		88	Substitution - Missense(87)|Insertion - In frame(1)	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)	skin(26)|thyroid(17)|urinary_tract(13)|upper_aerodigestive_tract(11)|soft_tissue(8)|lung(5)|salivary_gland(3)|prostate(3)|adrenal_gland(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	CM060018	HRAS	M	rs104894228	c.(37-39)Ggt>Tgt		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						85.0	80.0	82.0					11																	534286		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.chr11:534286C>A	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.37G>T	11.37:g.534286C>A	ENSP00000407586:p.Gly13Cys	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.G13C|HRAS_ENST00000397596.2_Missense_Mutation_p.G13C|HRAS_ENST00000451590.1_Missense_Mutation_p.G13C|HRAS_ENST00000311189.7_Missense_Mutation_p.G13C|HRAS_ENST00000468682.2_5'UTR	p.G13C	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	224	-		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)	13		G -> C (in FCSS).|G -> D (in FCSS).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.37G>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232247	0.58777	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.81503	0.4836	M	0.91920	3.255	0.80722	A	1	P;P	0.42649	0.786;0.504	B;P	0.44394	0.32;0.448	D	0.90314	0.4339	9	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	C	13	ENSP00000380722:G13C;ENSP00000380723:G13C;ENSP00000407586:G13C;ENSP00000388246:G13C;ENSP00000309845:G13C	ENSP00000309845:G13C	G	-	1	0	HRAS	524286	1.000000	0.71417	0.446000	0.26920	0.236000	0.25371	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT		0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		36	13	1	0	6.90743e-12	1	7.11996e-12	36	13				
ERAP1	51752	broad.mit.edu	37	5	96124350	96124350	+	Missense_Mutation	SNP	C	C	T	rs567477737		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr5:96124350C>T	ENST00000443439.2	-	11	1629	c.1563G>A	c.(1561-1563)atG>atA	p.M521I	ERAP1_ENST00000296754.3_Missense_Mutation_p.M521I|ERAP1_ENST00000514604.1_5'Flank|CTD-2260A17.1_ENST00000602972.1_RNA|CTD-2260A17.1_ENST00000512856.1_RNA	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	521					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		TCCAAGTGTTCATCATGGTTT	0.468																																						ENST00000296754.3																			0				endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19						c.(1561-1563)atG>atA		endoplasmic reticulum aminopeptidase 1							157.0	120.0	133.0					5																	96124350		2203	4300	6503	SO:0001583	missense	51752				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding	g.chr5:96124350C>T	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.1563G>A	5.37:g.96124350C>T	ENSP00000406304:p.Met521Ile					ERAP1_ENST00000443439.2_Missense_Mutation_p.M521I	p.M521I	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)	11	1820	-		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)	521					O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	37	c.1563G>A	CCDS47250.1	.	.	.	.	.	.	.	.	.	.	C	34	5.311999	0.95655	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.05199	3.48;3.48	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.37489	0.1005	M	0.92970	3.365	0.80722	D	1	D;D;D	0.89917	0.974;1.0;1.0	P;D;D	0.80764	0.78;0.99;0.994	T	0.36672	-0.9738	10	0.87932	D	0	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	521;521;521	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	I	521	ENSP00000296754:M521I;ENSP00000406304:M521I	ENSP00000296754:M521I	M	-	3	0	ERAP1	96150106	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.161000	0.77505	2.941000	0.99782	0.655000	0.94253	ATG		0.468	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		34	14	0	0	0	1	0	34	14				
DSEL	92126	broad.mit.edu	37	18	65179895	65179895	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr18:65179895C>A	ENST00000310045.7	-	2	3454	c.1981G>T	c.(1981-1983)Gca>Tca	p.A661S	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	651					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GCTTGCTCTGCTTCCTGTATA	0.383																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1981-1983)Gca>Tca		dermatan sulfate epimerase-like							71.0	72.0	72.0					18																	65179895		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179895C>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1981G>T	18.37:g.65179895C>A	ENSP00000310565:p.Ala661Ser					CTD-2541J13.2_ENST00000583493.1_RNA	p.A661S	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	3454	-		Esophageal squamous(42;0.129)	651					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.1981G>T	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606493	0.66445	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.18960	2.18	5.64	5.64	0.86602	.	0.000000	0.85682	U	0.000000	T	0.47173	0.1431	M	0.76838	2.35	0.48762	D	0.999705	D	0.67145	0.996	P	0.62813	0.907	T	0.29274	-1.0017	10	0.34782	T	0.22	.	19.2924	0.94105	0.0:1.0:0.0:0.0	.	651	Q8IZU8	DSEL_HUMAN	S	661;651	ENSP00000310565:A661S	ENSP00000310565:A661S	A	-	1	0	DSEL	63330875	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.914000	0.69964	2.669000	0.90835	0.462000	0.41574	GCA		0.383	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		29	42	1	0	1.13719e-10	1	1.16323e-10	29	42				
ERCC6L	54821	broad.mit.edu	37	X	71427611	71427611	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chrX:71427611T>C	ENST00000334463.3	-	2	1141	c.1006A>G	c.(1006-1008)Aaa>Gaa	p.K336E	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Missense_Mutation_p.K213E	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	336					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CTTGACTTTTTCTTCTGTACG	0.368																																						ENST00000373657.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(637-639)Aaa>Gaa		excision repair cross-complementing rodent repair deficiency, complementation group 6-like							148.0	145.0	146.0					X																	71427611		2201	4299	6500	SO:0001583	missense	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71427611T>C	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.1006A>G	X.37:g.71427611T>C	ENSP00000334675:p.Lys336Glu					PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.K336E	p.K213E			Q2NKX8	ERC6L_HUMAN			3	1239	-	Renal(35;0.156)		336			Helicase ATP-binding.		Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.637A>G	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	T	9.932	1.215024	0.22373	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.92911	-3.13;-3.13	5.87	4.7	0.59300	SNF2-related (1);	.	.	.	.	T	0.82079	0.4959	N	0.04275	-0.24	0.42845	D	0.994066	P	0.44344	0.833	B	0.43445	0.42	T	0.79135	-0.1928	9	0.28530	T	0.3	-11.692	8.9749	0.35930	0.0:0.088:0.0:0.912	.	336	Q2NKX8	ERC6L_HUMAN	E	213;336	ENSP00000362761:K213E;ENSP00000334675:K336E	ENSP00000334675:K336E	K	-	1	0	ERCC6L	71344336	0.950000	0.32346	0.991000	0.47740	0.820000	0.46376	2.800000	0.47900	0.836000	0.34901	0.486000	0.48141	AAA		0.368	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		82	32	0	0	0	1	0	82	32				
MSC	9242	broad.mit.edu	37	8	72754954	72754954	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:72754954G>A	ENST00000325509.4	-	2	852	c.563C>T	c.(562-564)cCg>cTg	p.P188L	RP11-383H13.1_ENST00000537896.1_5'Flank|RP11-383H13.1_ENST00000524152.1_5'Flank|RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'UTR	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	188					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P188L(1)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GTCAGAGTCCGGTCTTCCCGA	0.463																																						ENST00000325509.4																			1	Substitution - Missense(1)	p.P188L(1)	large_intestine(1)	endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26						c.(562-564)cCg>cTg		musculin							298.0	297.0	297.0					8																	72754954		1937	4134	6071	SO:0001583	missense	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72754954G>A		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.563C>T	8.37:g.72754954G>A	ENSP00000321445:p.Pro188Leu					MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron	p.P188L	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		2	852	-	Breast(64;0.176)		188					O75946|Q53XZ2|Q9BRE7	Missense_Mutation	SNP	ENST00000325509.4	37	c.563C>T	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878521	0.91740	.	.	ENSG00000178860	ENST00000325509	D	0.97924	-4.61	4.88	4.88	0.63580	Helix-loop-helix DNA-binding (1);	0.061993	0.64402	D	0.000003	D	0.98124	0.9381	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	D	0.99364	1.0918	10	0.87932	D	0	.	18.2206	0.89901	0.0:0.0:1.0:0.0	.	188	O60682	MUSC_HUMAN	L	188	ENSP00000321445:P188L	ENSP00000321445:P188L	P	-	2	0	MSC	72917508	1.000000	0.71417	0.977000	0.42913	0.966000	0.64601	7.039000	0.76544	2.559000	0.86315	0.462000	0.41574	CCG		0.463	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		8	853	0	0	0	1	0	8	853				
EP300	2033	broad.mit.edu	37	22	41556727	41556727	+	Splice_Site	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr22:41556727G>A	ENST00000263253.7	+	20	4890		c.e20+1			NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.Y1198_L1243del(1)|p.?(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGCCTCAAACGTAAGTAACTG	0.408			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		2	Unknown(1)|Deletion - In frame(1)	p.Y1198_L1243del(1)|p.?(1)	breast(1)|pancreas(1)	NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.e20+1		E1A binding protein p300							99.0	82.0	88.0					22																	41556727		2203	4300	6503	SO:0001630	splice_region_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41556727G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3671+1G>A	22.37:g.41556727G>A								NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			20	4890	+								B1AKC2	Splice_Site	SNP	ENST00000263253.7	37		CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729661	0.89390	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4278	0.94751	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EP300	39886673	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.595000	0.87683	0.557000	0.71058	.		0.408	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	Intron	33	9	0	0	0	1	0	33	9				
SLC22A20	440044	broad.mit.edu	37	11	64990058	64990058	+	RNA	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr11:64990058G>A	ENST00000525437.1	+	0	956							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GGGAAAGGCTGACCAAGGAGG	0.547																																						ENST00000525437.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8															65.0	61.0	62.0					11																	64990058		2082	4211	6293			440044				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:64990058G>A	DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.64990058G>A										A6NK97	S22AK_HUMAN			0	956	+								B9EJB2|Q6ZN88	RNA	SNP	ENST00000525437.1	37																																																																																						0.547	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000385336.1	NM_001004326		18	45	0	0	0	1	0	18	45				
SPATA6L	55064	broad.mit.edu	37	9	4604233	4604233	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr9:4604233T>A	ENST00000454239.2	-	12	1371	c.1126A>T	c.(1126-1128)Aga>Tga	p.R376*	SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000381895.5_Nonsense_Mutation_p.R253*|SPATA6L_ENST00000475086.1_Nonsense_Mutation_p.R318*			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	376																	TAGCTTGGTCTTTCAATGATA	0.343																																						ENST00000454239.2																			0											c.(1126-1128)Aga>Tga		spermatogenesis associated 6-like							132.0	124.0	127.0					9																	4604233		1813	4083	5896	SO:0001587	stop_gained	55064							g.chr9:4604233T>A	AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 68"""	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.1126A>T	9.37:g.4604233T>A	ENSP00000404277:p.Arg376*					SPATA6L_ENST00000381895.5_Nonsense_Mutation_p.R253*|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000475086.1_Nonsense_Mutation_p.R318*	p.R376*			B4DIY4	B4DIY4_HUMAN			12	1371	-			318					B4DIY4|Q5JVJ5|Q8IY90	Nonsense_Mutation	SNP	ENST00000454239.2	37	c.1126A>T		.	.	.	.	.	.	.	.	.	.	T	39	7.714269	0.98450	.	.	ENSG00000106686	ENST00000454239;ENST00000475086;ENST00000381895	.	.	.	4.99	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.46113	D	0.998879	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2752	8.9984	0.36066	0.0:0.0:0.1866:0.8134	.	.	.	.	X	376;318;253	.	ENSP00000371319:R253X	R	-	1	2	C9orf68	4594233	0.752000	0.28338	0.004000	0.12327	0.004000	0.04260	2.021000	0.41020	1.017000	0.39495	0.528000	0.53228	AGA		0.343	SPATA6L-202	KNOWN	basic	protein_coding	protein_coding		NM_017985		26	61	0	0	0	1	0	26	61				
ARHGEF12	23365	broad.mit.edu	37	11	120329912	120329912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr11:120329912C>T	ENST00000397843.2	+	26	2576	c.2410C>T	c.(2410-2412)Cga>Tga	p.R804*	ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.R701*|ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.R785*|AP000758.1_ENST00000595283.1_Missense_Mutation_p.E46K	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	804	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AGCTCATGTTCGAACACTGAA	0.388			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(2410-2412)Cga>Tga		Rho guanine nucleotide exchange factor (GEF) 12							111.0	107.0	108.0					11																	120329912		1853	4112	5965	SO:0001587	stop_gained	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120329912C>T	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.2410C>T	11.37:g.120329912C>T	ENSP00000380942:p.Arg804*					ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.R785*|AP000758.1_ENST00000595283.1_Missense_Mutation_p.E46K|ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.R701*	p.R804*	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	26	2576	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	804			DH.		O15086|Q6P526	Nonsense_Mutation	SNP	ENST00000397843.2	37	c.2410C>T	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	C	43	9.964357	0.99305	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	.	.	.	5.62	5.62	0.85841	.	0.000000	0.41001	D	0.000974	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2051	19.6768	0.95939	0.0:1.0:0.0:0.0	.	.	.	.	X	804;785;701	.	ENSP00000349056:R785X	R	+	1	2	ARHGEF12	119835122	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	2.882000	0.48546	2.634000	0.89283	0.655000	0.94253	CGA		0.388	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		4	87	0	0	0	1	0	4	87				
JUP	3728	broad.mit.edu	37	17	39919477	39919477	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr17:39919477T>G	ENST00000393931.3	-	8	1373	c.1255A>C	c.(1255-1257)Aca>Cca	p.T419P	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.T419P|JUP_ENST00000310706.5_Missense_Mutation_p.T419P	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	419					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TTGTTGCATGTCAGGTTGGAG	0.562																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1255-1257)Aca>Cca		junction plakoglobin							188.0	145.0	159.0					17																	39919477		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39919477T>G	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1255A>C	17.37:g.39919477T>G	ENSP00000377508:p.Thr419Pro					JUP_ENST00000310706.5_Missense_Mutation_p.T419P|JUP_ENST00000393930.1_Missense_Mutation_p.T419P|JUP_ENST00000540235.1_Intron	p.T419P	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	8	1373	-		Breast(137;0.000162)	419					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.1255A>C	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.128002	0.56721	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.66099	-0.19;-0.19;-0.19	4.9	4.9	0.64082	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80529	0.4640	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84093	0.0391	10	0.87932	D	0	-37.53	13.8482	0.63481	0.0:0.0:0.0:1.0	.	419	P14923	PLAK_HUMAN	P	419	ENSP00000377507:T419P;ENSP00000311113:T419P;ENSP00000377508:T419P	ENSP00000311113:T419P	T	-	1	0	JUP	37173003	1.000000	0.71417	0.998000	0.56505	0.127000	0.20565	7.760000	0.85248	2.059000	0.61396	0.397000	0.26171	ACA		0.562	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			32	42	0	0	0	1	0	32	42				
RCN2	5955	broad.mit.edu	37	15	77241521	77241521	+	Silent	SNP	C	C	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr15:77241521C>A	ENST00000394885.3	+	7	1135	c.912C>A	c.(910-912)ggC>ggA	p.G304G	RCN2_ENST00000394883.3_Silent_p.G203G|RCN2_ENST00000320963.5_Silent_p.G322G	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	304						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						CAGATTATGGCAGACAGCTCC	0.398																																						ENST00000394885.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						c.(910-912)ggC>ggA		reticulocalbin 2, EF-hand calcium binding domain							120.0	123.0	122.0					15																	77241521		2196	4294	6490	SO:0001819	synonymous_variant	5955					endoplasmic reticulum lumen	calcium ion binding	g.chr15:77241521C>A	X78669	CCDS10291.1, CCDS61719.1	15q22.33-q24.1	2013-01-10			ENSG00000117906	ENSG00000117906		"""EF-hand domain containing"""	9935	protein-coding gene	gene with protein product	"""Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)"""	602584				9533013, 7624774	Standard	NM_002902		Approved	ERC-55, E6BP, ERC55, TCBP49	uc002bcd.3	Q14257	OTTHUMG00000143730	ENST00000394885.3:c.912C>A	15.37:g.77241521C>A						RCN2_ENST00000320963.5_Silent_p.G322G|RCN2_ENST00000394883.3_Silent_p.G203G	p.G304G	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN			7	1135	+			304					A8MTG6|F8WCY5|Q53XN8	Silent	SNP	ENST00000394885.3	37	c.912C>A	CCDS10291.1																																																																																				0.398	RCN2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289795.1	NM_002902		41	93	1	0	1.8453e-21	1	1.94701e-21	41	93				
HLA-B	3106	broad.mit.edu	37	6	31323247	31323247	+	Nonsense_Mutation	SNP	G	G	A	rs72558120		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:31323247G>A	ENST00000412585.2	-	4	770	c.742C>T	c.(742-744)Caa>Taa	p.Q248*		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	248	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCCTGAGTTTGGTCCTCGCCA	0.592									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						c.(742-744)Caa>Taa		major histocompatibility complex, class I, B							110.0	97.0	101.0					6																	31323247		2203	4300	6503	SO:0001587	stop_gained	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31323247G>A	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.742C>T	6.37:g.31323247G>A	ENSP00000399168:p.Gln248*						p.Q248*	NM_005514.6	NP_005505.2					4	770	-								Q29764	Nonsense_Mutation	SNP	ENST00000412585.2	37	c.742C>T	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	13.34	2.208456	0.39003	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596	.	.	.	3.16	3.16	0.36331	.	0.890881	0.09224	U	0.831557	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.5215	0.33279	0.0:0.2395:0.7604:0.0	.	.	.	.	X	248;127;127	.	ENSP00000399168:Q248X	Q	-	1	0	HLA-B	31431226	0.002000	0.14202	0.946000	0.38457	0.207000	0.24258	1.032000	0.30178	1.804000	0.52760	0.442000	0.29010	CAA		0.592	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		50	125	0	0	0	1	0	50	125				
MLLT6	4302	broad.mit.edu	37	17	36865454	36865454	+	Missense_Mutation	SNP	G	G	A	rs376314145		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr17:36865454G>A	ENST00000325718.7	+	5	474	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	CTB-58E17.3_ENST00000583409.1_RNA|MLLT6_ENST00000378137.5_Missense_Mutation_p.R128Q	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	128					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GAGCAGGGCCGGGAGAGCAAG	0.637			T	MLL	AL								G|||	1	0.000199681	0.0008	0.0	5008	,	,		17243	0.0		0.0	False		,,,				2504	0.0					ENST00000325718.7				Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(382-384)cGg>cAg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6		G	GLN/ARG	0,4406		0,0,2203	133.0	139.0	137.0		383	4.2	1.0	17		137	1,8599	1.2+/-3.3	0,1,4299	no	missense	MLLT6	NM_005937.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	128/1094	36865454	1,13005	2203	4300	6503	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36865454G>A		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.383G>A	17.37:g.36865454G>A	ENSP00000316426:p.Arg128Gln					MLLT6_ENST00000378137.5_Missense_Mutation_p.R128Q	p.R128Q	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			5	474	+	Breast(7;4.43e-21)		128					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.383G>A	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555008	0.86231	0.0	1.16E-4	ENSG00000108292	ENST00000325718;ENST00000378137	T;T	0.16597	2.33;2.46	4.21	4.21	0.49690	Zinc finger, PHD-finger (1);Zinc finger, PHD-type (1);	0.000000	0.64402	D	0.000001	T	0.38558	0.1045	M	0.64997	1.995	0.58432	D	0.999991	P;P;D	0.89917	0.882;0.882;1.0	P;P;D	0.74023	0.523;0.523;0.982	T	0.27739	-1.0065	10	0.72032	D	0.01	.	15.2912	0.73868	0.0:0.0:1.0:0.0	.	128;128;128	E9PEP1;Q6P2C6;P55198	.;.;AF17_HUMAN	Q	128	ENSP00000316426:R128Q;ENSP00000367377:R128Q	ENSP00000316426:R128Q	R	+	2	0	MLLT6	34118980	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.200000	0.95010	2.165000	0.68154	0.484000	0.47621	CGG		0.637	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		73	197	0	0	0	1	0	73	197				
BRD1	23774	broad.mit.edu	37	22	50217877	50217877	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr22:50217877G>A	ENST00000216267.8	-	1	575	c.89C>T	c.(88-90)aCg>aTg	p.T30M	BRD1_ENST00000404034.1_Missense_Mutation_p.T30M|BRD1_ENST00000457780.2_Missense_Mutation_p.T30M|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000404760.1_Missense_Mutation_p.T30M|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000342989.5_5'Flank	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	30					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTAGGTCAGCGTTTCTCGCGT	0.478																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(88-90)aCg>aTg		bromodomain containing 1							133.0	124.0	127.0					22																	50217877		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50217877G>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.89C>T	22.37:g.50217877G>A	ENSP00000216267:p.Thr30Met					BRD1_ENST00000457780.2_Missense_Mutation_p.T30M|BRD1_ENST00000404760.1_Missense_Mutation_p.T30M|BRD1_ENST00000404034.1_Missense_Mutation_p.T30M	p.T30M	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	575	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	30					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.89C>T	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.836647	0.32421	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	T;T;T;T	0.18016	2.46;2.46;2.42;2.24	5.12	4.08	0.47627	.	0.100149	0.64402	D	0.000002	T	0.40196	0.1107	M	0.76170	2.325	0.49915	D	0.99983	D;D;D	0.89917	0.998;1.0;0.999	P;P;D	0.66084	0.875;0.875;0.941	T	0.32025	-0.9922	9	.	.	.	.	15.3397	0.74287	0.0:0.1406:0.8594:0.0	.	30;30;30	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	M	30	ENSP00000216267:T30M;ENSP00000384076:T30M;ENSP00000385858:T30M;ENSP00000410042:T30M	.	T	-	2	0	BRD1	48603881	1.000000	0.71417	0.531000	0.27976	0.153000	0.21895	7.203000	0.77864	1.113000	0.41760	0.448000	0.29417	ACG		0.478	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		113	39	0	0	0	1	0	113	39				
DOCK4	9732	broad.mit.edu	37	7	111462470	111462470	+	Missense_Mutation	SNP	G	G	A	rs186031092	byFrequency	TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr7:111462470G>A	ENST00000437633.1	-	27	3134	c.2878C>T	c.(2878-2880)Cgc>Tgc	p.R960C	DOCK4-AS1_ENST00000452714.1_RNA|DOCK4_ENST00000428084.1_Missense_Mutation_p.R960C	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	960					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.R948C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ATCTCCGGGCGTATCAATATT	0.368																																						ENST00000428084.1																			1	Substitution - Missense(1)	p.R948C(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(2878-2880)Cgc>Tgc		dedicator of cytokinesis 4							84.0	76.0	79.0					7																	111462470		1853	4091	5944	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111462470G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2878C>T	7.37:g.111462470G>A	ENSP00000404179:p.Arg960Cys					DOCK4_ENST00000437633.1_Missense_Mutation_p.R960C	p.R960C			Q8N1I0	DOCK4_HUMAN			27	3150	-		Acute lymphoblastic leukemia(1;0.0441)	960					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.2878C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440123	0.83993	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.65916	-0.18;-0.18	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.73666	0.3616	M	0.69823	2.125	0.80722	D	1	D;D;D	0.71674	0.997;0.997;0.998	P;P;P	0.58520	0.776;0.696;0.84	T	0.76113	-0.3078	10	0.62326	D	0.03	.	13.3017	0.60328	0.0:0.0:0.8415:0.1585	.	996;960;960	Q149N5;Q8N1I0;Q8N1I0-2	.;DOCK4_HUMAN;.	C	948;960;960;948;959	ENSP00000410746:R960C;ENSP00000404179:R960C	ENSP00000345432:R948C	R	-	1	0	DOCK4	111249706	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.351000	0.59398	2.614000	0.88457	0.650000	0.86243	CGC		0.368	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		6	13	0	0	0	1	0	6	13				
BARD1	580	broad.mit.edu	37	2	215645897	215645897	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr2:215645897T>A	ENST00000260947.4	-	4	835	c.701A>T	c.(700-702)gAa>gTa	p.E234V	BARD1_ENST00000449967.2_Missense_Mutation_p.E90V|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	234					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTGCTTAGATTCCTCTTTGGA	0.373									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(700-702)gAa>gTa		BRCA1 associated RING domain 1							63.0	66.0	65.0					2																	215645897		2203	4299	6502	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215645897T>A		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.701A>T	2.37:g.215645897T>A	ENSP00000260947:p.Glu234Val					BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.E90V	p.E234V	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	835	-		Renal(323;0.0243)	234					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.701A>T	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.213666	0.39102	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.74737	-0.87;-0.22	5.75	5.75	0.90469	.	0.796478	0.11951	N	0.513656	T	0.72374	0.3452	M	0.65975	2.015	0.09310	N	1	P;P	0.44195	0.828;0.704	B;B	0.37650	0.255;0.152	T	0.69401	-0.5155	10	0.72032	D	0.01	-18.0804	12.0784	0.53657	0.0:0.0:0.1532:0.8467	.	90;234	E7EUI3;Q99728	.;BARD1_HUMAN	V	234;90	ENSP00000260947:E234V;ENSP00000406752:E90V	ENSP00000260947:E234V	E	-	2	0	BARD1	215354142	0.093000	0.21703	0.016000	0.15963	0.164000	0.22412	1.649000	0.37281	2.320000	0.78422	0.528000	0.53228	GAA		0.373	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		24	49	0	0	0	1	0	24	49				
BMS1P20	96610	broad.mit.edu	37	22	22664239	22664239	+	RNA	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr22:22664239C>T	ENST00000426066.1	+	0	762					NR_027293.1				BMS1 pseudogene 20																		GGATAAGCTGCTGATGAGCGG	0.532																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664239C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664239C>T								NR_027293.1						0	762	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.532	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	70	0	0	0	1	0	4	70				
POLK	51426	broad.mit.edu	37	5	74892176	74892176	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr5:74892176A>G	ENST00000241436.4	+	13	1830	c.1658A>G	c.(1657-1659)gAt>gGt	p.D553G	POLK_ENST00000504026.1_Intron|POLK_ENST00000352007.5_Missense_Mutation_p.D355G|POLK_ENST00000508526.1_Missense_Mutation_p.D355G|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Missense_Mutation_p.D463G	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	553					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		ACTGACAAAGATAAGTTTGTA	0.373								DNA polymerases (catalytic subunits)																														ENST00000241436.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(1657-1659)gAt>gGt	DNA polymerases (catalytic subunits)	polymerase (DNA directed) kappa							42.0	44.0	43.0					5																	74892176		2198	4299	6497	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74892176A>G	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1658A>G	5.37:g.74892176A>G	ENSP00000241436:p.Asp553Gly					POLK_ENST00000380481.3_Missense_Mutation_p.D463G|POLK_ENST00000508526.1_Missense_Mutation_p.D355G|POLK_ENST00000352007.5_Missense_Mutation_p.D355G|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Intron	p.D553G	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	13	1830	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	553					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.1658A>G	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.669725	0.29693	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.56103	1.18;0.48;0.48;1.19	5.66	1.84	0.25277	.	0.691600	0.15462	N	0.261081	T	0.43166	0.1235	L	0.54323	1.7	0.09310	N	1	B;B	0.14438	0.01;0.003	B;B	0.11329	0.006;0.004	T	0.30707	-0.9969	10	0.32370	T	0.25	-2.7076	6.8952	0.24253	0.7328:0.1311:0.1361:0.0	.	355;553	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	G	553;355;355;463	ENSP00000241436:D553G;ENSP00000342256:D355G;ENSP00000426853:D355G;ENSP00000369848:D463G	ENSP00000241436:D553G	D	+	2	0	POLK	74927932	0.962000	0.33011	0.057000	0.19452	0.149000	0.21700	2.945000	0.49043	0.073000	0.16731	-0.250000	0.11733	GAT		0.373	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		20	30	0	0	0	1	0	20	30				
CHD8	57680	broad.mit.edu	37	14	21875158	21875158	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr14:21875158C>T	ENST00000557364.1	-	14	3027	c.2764G>A	c.(2764-2766)Gct>Act	p.A922T	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.A643T|CHD8_ENST00000399982.2_Missense_Mutation_p.A922T			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	922	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTGATCAGAGCGTCAAACTTG	0.413																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(2764-2766)Gct>Act		chromodomain helicase DNA binding protein 8							55.0	50.0	52.0					14																	21875158		1971	4146	6117	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21875158C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2764G>A	14.37:g.21875158C>T	ENSP00000451601:p.Ala922Thr					CHD8_ENST00000430710.3_Missense_Mutation_p.A643T|CHD8_ENST00000557364.1_Missense_Mutation_p.A922T|CHD8_ENST00000555962.1_Intron	p.A922T	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	13	2828	-	all_cancers(95;0.00121)		922			Helicase ATP-binding.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.2764G>A	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.412900|5.412900	0.96072|0.96072	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	D;D;D|.	0.93366|.	-3.21;-3.21;-3.21|.	5.41|5.41	5.41|5.41	0.78517|0.78517	DEAD-like helicase (2);SNF2-related (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68742|0.68742	0.3034|0.3034	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	D;D|.	0.61697|.	0.99;0.988|.	P;P|.	0.60415|.	0.874;0.8|.	T|T	0.63906|0.63906	-0.6531|-0.6531	10|5	0.56958|.	D|.	0.05|.	-14.5604|-14.5604	18.1343|18.1343	0.89612|0.89612	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	922;643|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	T|H	643;922;642;922|147	ENSP00000406288:A643T;ENSP00000382863:A922T;ENSP00000451601:A922T|.	ENSP00000262707:A642T|.	A|R	-|-	1|2	0|0	CHD8|CHD8	20944998|20944998	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.651000|7.651000	0.83577|0.83577	2.816000|2.816000	0.96949|0.96949	0.561000|0.561000	0.74099|0.74099	GCT|CGC		0.413	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		5	4	0	0	0	1	0	5	4				
CDCA7L	55536	broad.mit.edu	37	7	21940720	21940720	+	3'UTR	SNP	G	G	A	rs200609513	byFrequency	TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr7:21940720G>A	ENST00000406877.3	-	0	2864				DNAH11_ENST00000409508.3_Missense_Mutation_p.V4467M|CDCA7L_ENST00000356195.5_3'UTR|DNAH11_ENST00000328843.6_Missense_Mutation_p.V4474M	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like						positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						AGCCACCCCCGTGGACAGACA	0.557													G|||	3	0.000599042	0.0	0.0	5008	,	,		17385	0.0		0.001	False		,,,				2504	0.002					ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(13420-13422)Gtg>Atg		dynein, axonemal, heavy chain 11		G	,,MET/VAL,	0,3804		0,0,1902	85.0	89.0	88.0		,,13421,	-4.5	0.0	7		88	6,8230		0,6,4112	yes	utr-3,utr-3,missense,utr-3	DNAH11,CDCA7L	NM_001127370.2,NM_001127371.2,NM_003777.3,NM_018719.4	,,21,	0,6,6014	AA,AG,GG		0.0729,0.0,0.0498	,,benign,	,,4474/4524,	21940720	6,12034	1902	4118	6020	SO:0001624	3_prime_UTR_variant	8701	Kartagener syndrome			microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21940720G>A		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.*1220C>T	7.37:g.21940720G>A						DNAH11_ENST00000409508.3_Missense_Mutation_p.V4467M|CDCA7L_ENST00000406877.3_3'UTR|CDCA7L_ENST00000356195.5_3'UTR	p.V4474M			Q96DT5	DYH11_HUMAN			83	13451	+			4474					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.13420G>A	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264730	0.23136	0.0	7.29E-4	ENSG00000105877	ENST00000328843	T	0.08984	3.03	5.67	-4.48	0.03515	Dynein heavy chain (1);	1.714030	0.02313	N	0.072253	T	0.08492	0.0211	.	.	.	0.09310	N	1	B	0.29037	0.231	B	0.27796	0.083	T	0.30149	-0.9988	9	0.46703	T	0.11	.	14.3884	0.66961	0.5053:0.0:0.4947:0.0	.	4474	Q96DT5	DYH11_HUMAN	M	4474	ENSP00000330671:V4474M	ENSP00000330671:V4474M	V	+	1	0	DNAH11	21907245	0.000000	0.05858	0.000000	0.03702	0.239000	0.25481	-1.076000	0.03420	-1.267000	0.02443	0.655000	0.94253	GTG		0.557	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		38	87	0	0	0	1	0	38	87				
SMARCD3	6604	broad.mit.edu	37	7	150938616	150938616	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr7:150938616C>A	ENST00000262188.8	-	8	1311	c.901G>T	c.(901-903)Gac>Tac	p.D301Y	SMARCD3_ENST00000392811.2_Missense_Mutation_p.D288Y|RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000356800.2_Missense_Mutation_p.D288Y|SMARCD3_ENST00000477169.1_5'Flank|MIR671_ENST00000390183.1_RNA	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	301	SWIB.				cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TATTCCTTGTCATGGGAGTCC	0.587																																						ENST00000392811.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15						c.(862-864)Gac>Tac		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3							48.0	41.0	44.0					7																	150938616		2203	4300	6503	SO:0001583	missense	6604				cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	g.chr7:150938616C>A	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.901G>T	7.37:g.150938616C>A	ENSP00000262188:p.Asp301Tyr					SMARCD3_ENST00000356800.2_Missense_Mutation_p.D288Y|SMARCD3_ENST00000262188.8_Missense_Mutation_p.D301Y	p.D288Y	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	9	1336	-			301			SWIB.		D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	ENST00000262188.8	37	c.862G>T	CCDS34780.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207558	0.79240	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	T;T;T	0.54479	0.57;0.58;0.58	5.48	5.48	0.80851	SWIB domain (1);SWIB/MDM2 domain (2);	0.045175	0.85682	D	0.000000	T	0.77315	0.4112	M	0.89478	3.035	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.977	D;D;P	0.76071	0.987;0.912;0.905	T	0.81822	-0.0756	10	0.87932	D	0	-21.5809	16.8808	0.86062	0.0:1.0:0.0:0.0	.	301;288;301	B7Z4U8;Q6STE5-2;Q6STE5	.;.;SMRD3_HUMAN	Y	301;288;288;253	ENSP00000262188:D301Y;ENSP00000376558:D288Y;ENSP00000349254:D288Y	ENSP00000262188:D301Y	D	-	1	0	SMARCD3	150569549	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	7.818000	0.86416	2.572000	0.86782	0.655000	0.94253	GAC		0.587	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801		9	10	1	0	4.68919e-08	1	4.76024e-08	9	10				
ZNF385A	25946	broad.mit.edu	37	12	54767763	54767763	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr12:54767763G>A	ENST00000338010.5	-	4	468	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C	RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000551109.1_Missense_Mutation_p.R119C|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000546970.1_Missense_Mutation_p.R119C|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000352268.6_Missense_Mutation_p.R139C|ZNF385A_ENST00000551771.1_Missense_Mutation_p.R119C|ZNF385A_ENST00000394313.2_Missense_Mutation_p.R119C	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	139					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						ACACCTGGACGGGGTGCTACA	0.567																																						ENST00000546970.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						c.(355-357)Cgt>Tgt		zinc finger protein 385A							75.0	72.0	73.0					12																	54767763		2203	4300	6503	SO:0001583	missense	25946				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr12:54767763G>A	AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"""zinc finger protein 385"""	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.415C>T	12.37:g.54767763G>A	ENSP00000338927:p.Arg139Cys					ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551771.1_Missense_Mutation_p.R119C|ZNF385A_ENST00000551109.1_Missense_Mutation_p.R119C|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000352268.6_Missense_Mutation_p.R139C|ZNF385A_ENST00000338010.5_Missense_Mutation_p.R139C|ZNF385A_ENST00000394313.2_Missense_Mutation_p.R119C	p.R119C			Q96PM9	Z385A_HUMAN			5	644	-			119					B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Missense_Mutation	SNP	ENST00000338010.5	37	c.355C>T	CCDS44911.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.512800	0.64522	.	.	ENSG00000161642	ENST00000551109;ENST00000352268;ENST00000394313;ENST00000338010;ENST00000546970;ENST00000551771;ENST00000546919;ENST00000549937;ENST00000549962;ENST00000547210;ENST00000550774;ENST00000550120	T;T;T;T;T;T;T;T;T;T;T	0.47869	1.43;0.87;1.43;1.44;1.43;0.88;1.44;1.43;0.83;0.83;0.86	4.55	3.58	0.41010	.	1.123250	0.06539	N	0.742820	T	0.41143	0.1146	N	0.14661	0.345	0.21416	N	0.999698	D;P;P;D;D	0.76494	0.986;0.956;0.927;0.999;0.999	B;P;B;P;P	0.51657	0.36;0.502;0.292;0.676;0.676	T	0.30208	-0.9986	10	0.48119	T	0.1	-2.3182	7.3235	0.26542	0.0:0.1833:0.6278:0.1889	.	119;119;119;119;119	Q96PM9-2;F8VSJ1;F8VRY0;Q96PM9;F1T0F1	.;.;.;Z385A_HUMAN;.	C	119;139;119;139;119;119;119;101;102;119;119;82	ENSP00000449161:R119C;ENSP00000293385:R139C;ENSP00000377849:R119C;ENSP00000338927:R139C;ENSP00000446913:R119C;ENSP00000447162:R119C;ENSP00000448466:R119C;ENSP00000448567:R101C;ENSP00000450149:R102C;ENSP00000448264:R119C;ENSP00000449462:R119C	ENSP00000338927:R139C	R	-	1	0	ZNF385A	53054030	0.097000	0.21791	1.000000	0.80357	0.973000	0.67179	0.609000	0.24238	2.251000	0.74343	0.561000	0.74099	CGT		0.567	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406162.1	NM_015481		25	53	0	0	0	1	0	25	53				
RPL13AP3	645683	broad.mit.edu	37	14	56233280	56233280	+	lincRNA	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr14:56233280C>T	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							CAAGGTCGTGCGTCTGAAGCC	0.572																																						ENST00000554458.1																			0																																																			645683							g.chr14:56233280C>T																													14.37:g.56233280C>T						RPL13AP3_ENST00000494676.1_RNA								0	75	+									RNA	SNP	ENST00000554458.1	37																																																																																						0.572	RP11-813I20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000411474.1			6	16	0	0	0	1	0	6	16				
TGFBI	7045	broad.mit.edu	37	5	135392430	135392430	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr5:135392430C>T	ENST00000442011.2	+	12	1785	c.1624C>T	c.(1624-1626)Ccc>Tcc	p.P542S	TGFBI_ENST00000305126.8_Missense_Mutation_p.P542S|TGFBI_ENST00000508076.1_5'Flank	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	542	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGTCTTTGCTCCCACAAATGA	0.498																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1624-1626)Ccc>Tcc		transforming growth factor, beta-induced, 68kDa							75.0	79.0	78.0					5																	135392430		1968	4158	6126	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135392430C>T	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1624C>T	5.37:g.135392430C>T	ENSP00000416330:p.Pro542Ser					TGFBI_ENST00000305126.8_Missense_Mutation_p.P542S	p.P542S	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		12	1785	+			542			FAS1 4.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1624C>T	CCDS47266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.261901|5.261901	0.95368|0.95368	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126|ENST00000514554	D;D|.	0.99880|.	-7.45;-7.45|.	5.82|5.82	5.82|5.82	0.92795|0.92795	FAS1 domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90940|0.90940	0.7152|0.7152	H|H	0.98178|0.98178	4.165|4.165	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.93623|0.93623	0.6949|0.6949	10|5	0.87932|.	D|.	0|.	-18.5107|-18.5107	20.0893|20.0893	0.97812|0.97812	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	275;542|.	B9ZVW9;Q15582|.	.;BGH3_HUMAN|.	S|F	542;275;542|259	ENSP00000416330:P542S;ENSP00000306306:P542S|.	ENSP00000306306:P542S|.	P|S	+|+	1|2	0|0	TGFBI|TGFBI	135420329|135420329	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	7.456000|7.456000	0.80751|0.80751	2.761000|2.761000	0.94854|0.94854	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.498	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			44	20	0	0	0	1	0	44	20				
NUDT21	11051	broad.mit.edu	37	16	56481804	56481804	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr16:56481804C>G	ENST00000300291.5	-	2	386	c.214G>C	c.(214-216)Gat>Cat	p.D72H		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	72	Necessary for RNA-binding.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	AU-rich element binding (GO:0017091)|histone deacetylase binding (GO:0042826)|hydrolase activity (GO:0016787)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						CCAATTTTATCAAATTCTTCC	0.463																																						ENST00000300291.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						c.(214-216)Gat>Cat		nudix (nucleoside diphosphate linked moiety X)-type motif 21							109.0	97.0	101.0					16																	56481804		2198	4300	6498	SO:0001583	missense	11051				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity	g.chr16:56481804C>G	AJ001810	CCDS10760.1	16q12.2	2013-06-18	2005-07-11	2005-07-11	ENSG00000167005	ENSG00000167005		"""Nudix motif containing"""	13870	protein-coding gene	gene with protein product	"""cleavage factor Im complex 25 kDa subunit"""	604978	"""cleavage and polyadenylation specific factor 5, 25 kDa"", ""cleavage and polyadenylation specific factor 5, 25 kD subunit"""	CPSF5		9659921	Standard	NM_007006		Approved	CFIM25	uc002eja.3	O43809	OTTHUMG00000133240	ENST00000300291.5:c.214G>C	16.37:g.56481804C>G	ENSP00000300291:p.Asp72His						p.D72H	NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN			2	386	-			72			Necessary for RNA-binding.		Q6IB85|Q6NE84	Missense_Mutation	SNP	ENST00000300291.5	37	c.214G>C	CCDS10760.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965701	0.74131	.	.	ENSG00000167005	ENST00000300291;ENST00000535563	.	.	.	5.91	5.91	0.95273	.	0.042699	0.85682	D	0.000000	T	0.65207	0.2669	L	0.42245	1.32	0.80722	D	1	B	0.15141	0.012	B	0.23574	0.047	T	0.60146	-0.7320	9	0.66056	D	0.02	-4.058	20.2963	0.98556	0.0:1.0:0.0:0.0	.	72	O43809	CPSF5_HUMAN	H	72	.	ENSP00000300291:D72H	D	-	1	0	NUDT21	55039305	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.813000	0.96785	0.655000	0.94253	GAT		0.463	NUDT21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256980.3	NM_007006		27	46	0	0	0	1	0	27	46				
MFSD10	10227	broad.mit.edu	37	4	2934445	2934445	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr4:2934445C>T	ENST00000329687.4	-	4	947	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	NOP14-AS1_ENST00000512712.2_RNA|MFSD10_ENST00000514800.1_Missense_Mutation_p.R138Q|MFSD10_ENST00000508221.1_Missense_Mutation_p.R138Q|NOP14-AS1_ENST00000505731.1_RNA|MFSD10_ENST00000355443.4_Missense_Mutation_p.R138Q|NOP14-AS1_ENST00000507999.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|MFSD10_ENST00000507555.1_Missense_Mutation_p.R138Q	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	138					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGCAAAGCTCCGAGAGGTGGC	0.652																																						ENST00000329687.4																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						c.(412-414)cGg>cAg		major facilitator superfamily domain containing 10							50.0	56.0	54.0					4																	2934445		2203	4300	6503	SO:0001583	missense	10227				apoptosis	integral to membrane	tetracycline transporter activity	g.chr4:2934445C>T	L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"""tetracycline transporter like protein"""	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.413G>A	4.37:g.2934445C>T	ENSP00000332646:p.Arg138Gln					MFSD10_ENST00000507555.1_Missense_Mutation_p.R138Q|MFSD10_ENST00000355443.4_Missense_Mutation_p.R138Q|MFSD10_ENST00000514800.1_Missense_Mutation_p.R138Q|MFSD10_ENST00000508221.1_Missense_Mutation_p.R138Q	p.R138Q	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	4	947	-			138					Q07706	Missense_Mutation	SNP	ENST00000329687.4	37	c.413G>A	CCDS3365.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879085	0.33162	.	.	ENSG00000109736	ENST00000514800;ENST00000355443;ENST00000329687;ENST00000508221;ENST00000507555	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	4.73	1.6	0.23607	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.298636	0.33980	N	0.004361	T	0.41026	0.1141	L	0.39397	1.21	0.30847	N	0.735005	P;P;P;B	0.44429	0.731;0.835;0.835;0.433	B;B;B;B	0.42462	0.233;0.309;0.388;0.233	T	0.43877	-0.9364	10	0.13853	T	0.58	.	11.7548	0.51870	0.0:0.8124:0.0:0.1876	.	138;138;138;138	D6RIZ4;D6RE79;D6RA47;Q14728	.;.;.;MFS10_HUMAN	Q	138	ENSP00000426907:R138Q;ENSP00000347619:R138Q;ENSP00000332646:R138Q;ENSP00000425757:R138Q;ENSP00000423402:R138Q	ENSP00000332646:R138Q	R	-	2	0	MFSD10	2904243	0.042000	0.20092	0.406000	0.26421	0.803000	0.45373	0.577000	0.23758	0.255000	0.21593	0.563000	0.77884	CGG		0.652	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358072.2	NM_001120		30	56	0	0	0	1	0	30	56				
TRHDE	29953	broad.mit.edu	37	12	72667102	72667102	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr12:72667102C>T	ENST00000261180.4	+	1	640	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000550334.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	182					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTACGTAGTGCTGCACGCTTC	0.617																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(544-546)Ctg>Ttg		thyrotropin-releasing hormone degrading enzyme							58.0	59.0	59.0					12																	72667102		2203	4300	6503	SO:0001819	synonymous_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72667102C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.544C>T	12.37:g.72667102C>T						TRHDE-AS1_ENST00000426250.3_RNA	p.L182L	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			1	640	+			182					A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	c.544C>T	CCDS9004.1																																																																																				0.617	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		29	39	0	0	0	1	0	29	39				
ANO4	121601	broad.mit.edu	37	12	101365182	101365182	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr12:101365182C>T	ENST00000392977.3	+	6	765	c.555C>T	c.(553-555)ttC>ttT	p.F185F	ANO4_ENST00000392979.3_Silent_p.F150F|ANO4_ENST00000538618.1_Silent_p.F351F|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	185					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAATGCCTTTCAGGTAGGTGG	0.378										HNSCC(74;0.22)																												ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(448-450)ttC>ttT		anoctamin 4							135.0	133.0	134.0					12																	101365182		2203	4300	6503	SO:0001819	synonymous_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101365182C>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.555C>T	12.37:g.101365182C>T		HNSCC(74;0.22)				ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Silent_p.F185F|ANO4_ENST00000538618.1_Silent_p.F351F	p.F150F	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			5	811	+			185					Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	ENST00000392977.3	37	c.450C>T																																																																																					0.378	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		21	42	0	0	0	1	0	21	42				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		5	134	0	0	0	1	0	5	134				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	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	63	0	0	0	1	0	4	63				
RRAS	6237	broad.mit.edu	37	19	50138866	50138866	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:50138866C>G	ENST00000246792.3	-	6	726	c.624G>C	c.(622-624)aaG>aaC	p.K208N		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	208					axon guidance (GO:0007411)|negative regulation of cell migration (GO:0030336)|positive regulation of angiogenesis (GO:0045766)|Ras protein signal transduction (GO:0007265)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		CCCCGCCCTTCTTCCTGGGGG	0.612																																						ENST00000246792.3																			0				endometrium(1)|kidney(1)|lung(2)|ovary(2)	6						c.(622-624)aaG>aaC		related RAS viral (r-ras) oncogene homolog							68.0	75.0	72.0					19																	50138866		2203	4300	6503	SO:0001583	missense	6237				axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chr19:50138866C>G		CCDS12774.1	19q13.33	2014-05-09				ENSG00000126458			10447	protein-coding gene	gene with protein product	"""Oncogene RRAS"""	165090				3098437	Standard	NM_006270		Approved		uc002pop.1	P10301		ENST00000246792.3:c.624G>C	19.37:g.50138866C>G	ENSP00000246792:p.Lys208Asn						p.K208N	NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)	6	726	-			208					Q6FH12	Missense_Mutation	SNP	ENST00000246792.3	37	c.624G>C	CCDS12774.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065711	0.55539	.	.	ENSG00000126458	ENST00000246792	T	0.70749	-0.51	5.08	5.08	0.68730	.	0.171101	0.35739	N	0.003017	T	0.76962	0.4061	L	0.45470	1.425	0.49798	D	0.999827	D	0.71674	0.998	D	0.75484	0.986	T	0.76828	-0.2815	10	0.54805	T	0.06	.	9.3874	0.38352	0.0:0.9052:0.0:0.0948	.	208	P10301	RRAS_HUMAN	N	208	ENSP00000246792:K208N	ENSP00000246792:K208N	K	-	3	2	RRAS	54830678	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.841000	0.48223	2.644000	0.89710	0.561000	0.74099	AAG		0.612	RRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465791.1	NM_006270		49	61	0	0	0	1	0	49	61				
SYCP1	6847	broad.mit.edu	37	1	115419433	115419433	+	Splice_Site	DEL	T	T	-			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:115419433delT	ENST00000369522.3	+	11	1041		c.e11+2		SYCP1_ENST00000369518.1_Splice_Site	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1						chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAAGCAGGTTTTTTAAAAA	0.229																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.e11+2		synaptonemal complex protein 1							21.0	23.0	22.0					1																	115419433		2089	4098	6187	SO:0001630	splice_region_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115419433delT	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.801+2T>-	1.37:g.115419433delT						SYCP1_ENST00000369518.1_Splice_Site		NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	1041	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)						O14963|Q5VXJ6	Splice_Site	DEL	ENST00000369522.3	37		CCDS879.1																																																																																				0.229	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	Intron	2	4						2	4	---	---	---	---
LOC101929147	101929147	broad.mit.edu	37	1	119801692	119801692	+	RNA	DEL	T	T	-			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:119801692delT	ENST00000418015.1	+	0	430				RP11-418J17.3_ENST00000457719.1_lincRNA|snoU13_ENST00000459311.1_RNA																							agtgtgatgattggctgttca	0.428																																						ENST00000418015.1																			0																																																			101929147							g.chr1:119801692delT																													1.37:g.119801692delT						snoU13_ENST00000459311.1_RNA								0	430	+									RNA	DEL	ENST00000418015.1	37																																																																																						0.428	RP11-418J17.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000034375.1			2	4						2	4	---	---	---	---
GRM2	2912	broad.mit.edu	37	3	51749371	51749372	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr3:51749371_51749372delTA	ENST00000395052.3	+	4	1816_1817	c.1582_1583delTA	c.(1582-1584)tatfs	p.Y528fs	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	528					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTGCCAGCCCTATGAGTACCGA	0.609																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1582-1584)tfs		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)																																			SO:0001589	frameshift_variant	2912				synaptic transmission	integral to plasma membrane		g.chr3:51749371_51749372delTA	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1582_1583delTA	3.37:g.51749371_51749372delTA	ENSP00000378492:p.Tyr528fs					GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	p.Y528fs	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	1816_1817	+			528					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Frame_Shift_Del	DEL	ENST00000395052.3	37	c.1582_1583delTA	CCDS2834.1																																																																																				0.609	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			20	53						20	53	---	---	---	---
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacacfs	p.H529fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	759					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1582-1587)aaacfs		PAP associated domain containing 7																																				SO:0001589	frameshift_variant	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6755013_6755014delAC	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1584_1585delAC	5.37:g.6755023_6755024delAC	ENSP00000230859:p.His529fs						p.KH528fs	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			13	1713_1714	+			528					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Frame_Shift_Del	DEL	ENST00000230859.6	37	c.1584_1585delAC	CCDS3871.1																																																																																				0.653	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		9	81						9	81	---	---	---	---
PCDHGB4	8641	broad.mit.edu	37	5	140767492	140767497	+	In_Frame_Del	DEL	TGCCAG	TGCCAG	-	rs145222727|rs370380135	byFrequency	TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr5:140767492_140767497delTGCCAG	ENST00000519479.1	+	1	41_46	c.41_46delTGCCAG	c.(40-48)ctgccagtg>ctg	p.PV15del	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	15					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P15_V16delPV(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGAGAGGCTGCCAGTGCTCTTTCT	0.617											OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		166	0.033147	0.0045	0.0476	5008	,	,		16199	0.0		0.0944	False		,,,				2504	0.0327					ENST00000519479.1																			1	Deletion - In frame(1)	p.P15_V16delPV(1)	prostate(1)	endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(40-48)ctg>c					,,,,,,,,,,,	50,3074		6,38,1518					,,,,,,,,,,,	3.7	0.9		dbSNP_134	6	518,6570		64,390,3090	no	coding,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding	PCDHGB4,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_032098.1,NM_018924.2,NM_018923.2,NM_018922.2,NM_018920.2,NM_018919.2,NM_018918.2,NM_018917.2,NM_018916.3,NM_018915.2,NM_018912.2,NM_003736.2	,,,,,,,,,,,	70,428,4608	A1A1,A1R,RR		7.3081,1.6005,5.5621	,,,,,,,,,,,	,,,,,,,,,,,		568,9644				SO:0001651	inframe_deletion	8641							g.chr5:140767492_140767497delTGCCAG	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.41_46delTGCCAG	5.37:g.140767492_140767497delTGCCAG	ENSP00000428288:p.Pro15_Val16del		OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.LPV14del	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	41_46	+								O15099|Q2M267|Q9UN64	In_Frame_Del	DEL	ENST00000519479.1	37	c.41_46delTGCCAG	CCDS54928.1																																																																																				0.617	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		7	3						7	3	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000375349.3_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(52-54)ggcfs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR	p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	218_219	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			8	245						8	245	---	---	---	---
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-	rs552049497|rs141816879		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)caccat>cat	p.207_208HH>H	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion (GO:0030073)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)																												ENST00000333480.2																			3	Deletion - In frame(3)	p.H208delH(3)	upper_aerodigestive_tract(2)|breast(1)	breast(1)|lung(1)|upper_aerodigestive_tract(2)	4						c.(619-624)cat>ca		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A																																				SO:0001651	inframe_deletion	389692				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:144511954_144511956delTGG	AY083269	CCDS34955.1	8q24.3	2013-07-09	2013-07-09			ENSG00000182759			23145	protein-coding gene	gene with protein product		610303					Standard	NM_201589		Approved	RIPE3b1, hMafA	uc003yyc.2	Q8NHW3		ENST00000333480.2:c.621_623delCCA	8.37:g.144511963_144511965delTGG	ENSP00000328364:p.His208del	HNSCC(29;0.082)				MAFA_ENST00000528185.1_5'UTR	p.HH207del	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)		1	620_622	-	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		207			His-rich.			In_Frame_Del	DEL	ENST00000333480.2	37	c.621_623delCCA	CCDS34955.1																																																																																				0.744	MAFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381511.2	NM_201589		5	4						5	4	---	---	---	---
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs371516340|rs565664344|rs71369530	byFrequency	TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767																																						ENST00000375123.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(505-510)del		forkhead box E1 (thyroid transcription factor 2)																																				SO:0001651	inframe_deletion	2304				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:100616701_100616706delGCCGCC	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.505_510delGCCGCC	9.37:g.100616707_100616712delGCCGCC	ENSP00000364265:p.Ala177_Ala178del						p.AA177del	NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN			1	1166_1171	+		Acute lymphoblastic leukemia(62;0.158)	177			Ala-rich.|Poly-Ala.		O75765|Q5T109|Q99526	In_Frame_Del	DEL	ENST00000375123.3	37	c.505_510delGCCGCC	CCDS35078.1																																																																																				0.767	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1			9	30						9	30	---	---	---	---
NLRC5	84166	broad.mit.edu	37	16	57095443	57095443	+	Splice_Site	DEL	C	C	-			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr16:57095443delC	ENST00000262510.6	+	31	4295	c.4070delC	c.(4069-4071)acg>ag	p.T1357fs	NLRC5_ENST00000539144.1_Splice_Site_p.T1328fs|NLRC5_ENST00000308149.7_Splice_Site_p.T1328fs|NLRC5_ENST00000436936.1_Splice_Site_p.T1357fs	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1357					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ACGGAGCTCACGTGAGTGACC	0.647																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.e31+1		NLR family, CARD domain containing 5							44.0	41.0	42.0					16																	57095443		2198	4300	6498	SO:0001630	splice_region_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57095443delC	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4070+1C>-	16.37:g.57095443delC						NLRC5_ENST00000539144.1_Splice_Site_p.T1328_splice|NLRC5_ENST00000262510.6_Splice_Site_p.T1357_splice|NLRC5_ENST00000308149.7_Splice_Site_p.T1328_splice	p.T1357_splice			Q86WI3	NLRC5_HUMAN			31	4295	+		all_neural(199;0.225)	1357					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Splice_Site	DEL	ENST00000262510.6	37	c.4070_splice	CCDS10773.1																																																																																				0.647	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	Frame_Shift_Del	30	43						30	43	---	---	---	---
NLRC5	84166	broad.mit.edu	37	16	57111290	57111293	+	Splice_Site	DEL	GAGT	GAGT	-			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr16:57111290_57111293delGAGT	ENST00000262510.6	+	41	5143_5144	c.4918_4919delGAGT	c.(4918-4920)gag>g	p.E1640fs	NLRC5_ENST00000539144.1_Splice_Site_p.E1611fs|NLRC5_ENST00000308149.7_Splice_Site_p.E1611fs|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1640					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAGGAAGATAGAGTGAGTAGCCAG	0.583																																						ENST00000262510.6																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.e41+1		NLR family, CARD domain containing 5																																				SO:0001630	splice_region_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57111290_57111293delGAGT	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4919+1GAGT>-	16.37:g.57111294_57111297delGAGT						NLRC5_ENST00000539144.1_Splice_Site_p.1611_splice|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Splice_Site_p.1611_splice	p.1640_splice	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN			41	5143_5144	+		all_neural(199;0.225)	1640					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Splice_Site	DEL	ENST00000262510.6	37	c.4919_splice	CCDS10773.1																																																																																				0.583	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	Frame_Shift_Del	19	20						19	20	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	-	AT	rs201509828		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr20:29625899_29625900insAT	ENST00000278882.3	+	5	523_524	c.143_144insAT	c.(142-147)aaatatfs	p.KY48fs	FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.KY48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.KY53fs			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	48										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(142-144)atafs																																						SO:0001589	frameshift_variant	284802							g.chr20:29625899_29625900insAT			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.146_147dupAT	20.37:g.29625902_29625903dupAT	ENSP00000278882:p.Lys48fs					FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs	p.I48fs							5	523_524	+								C4AME5	Frame_Shift_Ins	INS	ENST00000278882.3	37	c.143_144insAT																																																																																					0.342	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	122						7	122	---	---	---	---
