#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
ZBTB16	7704	broad.mit.edu	37	11	114112945	114112945	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr11:114112945G>A	ENST00000335953.4	+	5	1890	c.1510G>A	c.(1510-1512)Gca>Aca	p.A504T	RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Missense_Mutation_p.A504T	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	504					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GGCGCAGAGCGCACTGCAGCA	0.627																																						ENST00000335953.4																			0				central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6						c.(1510-1512)Gca>Aca		zinc finger and BTB domain containing 16							80.0	58.0	66.0					11																	114112945		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:114112945G>A	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1510G>A	11.37:g.114112945G>A	ENSP00000338157:p.Ala504Thr					ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Missense_Mutation_p.A504T|RP11-64D24.2_ENST00000544925.1_RNA	p.A504T	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	5	1890	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	504					Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.1510G>A	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612192	0.87258	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.50548	0.74;0.74	5.33	5.33	0.75918	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.47985	0.1475	N	0.16016	0.355	0.52501	D	0.999952	D	0.71674	0.998	P	0.61201	0.885	T	0.32107	-0.9919	10	0.10902	T	0.67	-14.8673	19.4129	0.94683	0.0:0.0:1.0:0.0	.	504	Q05516	ZBT16_HUMAN	T	504;504;381	ENSP00000338157:A504T;ENSP00000376721:A504T	ENSP00000309507:A381T	A	+	1	0	ZBTB16	113618155	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.766000	0.85320	2.652000	0.90054	0.655000	0.94253	GCA		0.627	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		8	21	0	0	0	1	0	8	21				
NFKBIE	4794	broad.mit.edu	37	6	44229519	44229519	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr6:44229519C>T	ENST00000275015.5	-	3	951	c.952G>A	c.(952-954)Gcc>Acc	p.A318T		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	318					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCCCGGCTGGCCCCCTTCAGC	0.657																																						ENST00000275015.5																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(952-954)Gcc>Acc		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon							33.0	33.0	33.0					6																	44229519		2203	4300	6503	SO:0001583	missense	4794				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:44229519C>T	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"""Ankyrin repeat domain containing"""	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.952G>A	6.37:g.44229519C>T	ENSP00000275015:p.Ala318Thr						p.A318T	NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	951	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		318					Q5T9V9	Missense_Mutation	SNP	ENST00000275015.5	37	c.952G>A	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	C	36	5.702698	0.96812	.	.	ENSG00000146232	ENST00000275015	T	0.48522	0.81	5.28	5.28	0.74379	Ankyrin repeat-containing domain (3);	0.271701	0.35013	N	0.003511	T	0.73063	0.3539	M	0.92412	3.305	0.53005	D	0.999966	D	0.89917	1.0	D	0.79784	0.993	T	0.80450	-0.1377	10	0.72032	D	0.01	-47.4703	18.5303	0.90989	0.0:1.0:0.0:0.0	.	318	O00221	IKBE_HUMAN	T	318	ENSP00000275015:A318T	ENSP00000275015:A318T	A	-	1	0	NFKBIE	44337497	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.818000	0.86416	2.470000	0.83445	0.655000	0.94253	GCC		0.657	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2			9	30	0	0	0	1	0	9	30				
FFAR3	2865	broad.mit.edu	37	19	35849909	35849909	+	Silent	SNP	C	C	T	rs148149328		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:35849909C>T	ENST00000327809.4	+	2	318	c.117C>T	c.(115-117)ttC>ttT	p.F39F	FFAR3_ENST00000594310.1_Silent_p.F39F	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	39					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.F39F(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGGTGGTCTTCGTGGGCAAGC	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		25120	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(185;1742 2042 21963 24215 27871)	ENST00000327809.4																			1	Substitution - coding silent(1)	p.F39F(1)	lung(1)	endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17						c.(115-117)ttC>ttT		free fatty acid receptor 3							148.0	136.0	140.0					19																	35849909		2199	4295	6494	SO:0001819	synonymous_variant	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35849909C>T	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.117C>T	19.37:g.35849909C>T						FFAR3_ENST00000594310.1_Silent_p.F39F	p.F39F	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	318	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		39					B2RWM8|Q14CM7	Silent	SNP	ENST00000327809.4	37	c.117C>T	CCDS12459.1																																																																																				0.637	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		16	108	0	0	0	1	0	16	108				
CHDC2	286464	broad.mit.edu	37	X	36103579	36103579	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:36103579T>C	ENST00000313548.4	+	5	751	c.565T>C	c.(565-567)Tct>Cct	p.S189P		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	189						integral component of membrane (GO:0016021)											TTCAAGTCAATCTTTACCTGT	0.368																																						ENST00000378660.1																			0											c.(565-567)Tct>Cct		calponin homology domain containing 2							84.0	78.0	80.0					X																	36103579		2202	4300	6502	SO:0001583	missense	286464							g.chrX:36103579T>C	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.565T>C	X.37:g.36103579T>C	ENSP00000324767:p.Ser189Pro					CHDC2_ENST00000313548.4_Missense_Mutation_p.S189P	p.S189P							5	753	+									Missense_Mutation	SNP	ENST00000313548.4	37	c.565T>C	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	T	6.445	0.450220	0.12223	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.9	4.62	0.57501	.	0.103386	0.39146	N	0.001444	T	0.23370	0.0565	N	0.12182	0.205	0.22171	N	0.999319	B	0.22276	0.067	B	0.16289	0.015	T	0.11397	-1.0589	9	0.29301	T	0.29	-21.3174	10.3313	0.43825	0.1602:0.0:0.0:0.8398	.	189	Q8N9S7	CX059_HUMAN	P	189	.	ENSP00000324767:S189P	S	+	1	0	CXorf59	36013500	1.000000	0.71417	0.866000	0.34008	0.046000	0.14306	2.635000	0.46537	1.974000	0.57490	0.486000	0.48141	TCT		0.368	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		9	19	0	0	0	1	0	9	19				
ZNF587	84914	broad.mit.edu	37	19	58371137	58371137	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:58371137G>T	ENST00000339656.5	+	3	1539	c.1357G>T	c.(1357-1359)Gtt>Ttt	p.V453F	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.V452F|ZNF587_ENST00000419854.1_Missense_Mutation_p.V410F|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000597342.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		TCATCTTCTGGTTCATGAGAG	0.433																																					Pancreas(59;641 1233 1885 20055 50741)	ENST00000339656.5																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15						c.(1357-1359)Gtt>Ttt		zinc finger protein 587							126.0	154.0	145.0					19																	58371137		2203	4300	6503	SO:0001583	missense	84914				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58371137G>T	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1357G>T	19.37:g.58371137G>T	ENSP00000345479:p.Val453Phe					ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.V452F|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.V410F|ZNF814_ENST00000597832.1_Intron	p.V453F	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)	3	1539	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	453					A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	ENST00000339656.5	37	c.1357G>T	CCDS12964.1	.	.	.	.	.	.	.	.	.	.	.	10.71	1.428076	0.25726	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.07567	3.18;3.18;3.18	1.76	-3.53	0.04667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05686	0.0149	L	0.33093	0.98	0.25920	N	0.983122	P;B	0.34562	0.457;0.356	B;B	0.34991	0.193;0.111	T	0.20273	-1.0280	8	0.54805	T	0.06	.	3.9824	0.09501	0.3567:0.3637:0.2796:0.0	.	452;453	G3V0H5;Q96SQ5	.;ZN587_HUMAN	F	410;452;453;453;410	ENSP00000393865:V452F;ENSP00000345479:V453F;ENSP00000406999:V410F	ENSP00000345479:V453F	V	+	1	0	ZNF587	63062949	0.000000	0.05858	0.000000	0.03702	0.246000	0.25737	-4.861000	0.00177	-1.731000	0.01360	0.195000	0.17529	GTT		0.433	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		11	72	1	0	7.03913e-09	1	7.67905e-09	11	72				
PMF1	11243	broad.mit.edu	37	1	156203419	156203419	+	Splice_Site	SNP	G	G	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr1:156203419G>T	ENST00000368273.4	+	3	284	c.274G>T	c.(274-276)Gag>Tag	p.E92*	PMF1-BGLAP_ENST00000368276.4_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000490491.1_Splice_Site_p.E90*|PMF1_ENST00000567140.1_Splice_Site_p.E90*|PMF1_ENST00000368279.3_Splice_Site_p.E90*|PMF1_ENST00000565805.1_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000320139.5_Splice_Site_p.E90*|PMF1_ENST00000368277.3_Splice_Site_p.E90*	NM_001199654.1	NP_001186583.1			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					TTCTCTTCAGGAGGAAATCTC	0.443																																					Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)	ENST00000368277.3																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.e3-1		polyamine-modulated factor 1							133.0	142.0	139.0					1																	156203419		2203	4300	6503	SO:0001630	splice_region_variant	11243							g.chr1:156203419G>T	AF141310	CCDS30886.1, CCDS55648.1, CCDS55649.1	1q22	2013-07-03			ENSG00000160783	ENSG00000160783			9112	protein-coding gene	gene with protein product		609176				10419538	Standard	NM_007221		Approved			Q6P1K2	OTTHUMG00000177123	ENST00000368273.4:c.274-1G>T	1.37:g.156203419G>T						PMF1-BGLAP_ENST00000490491.1_Splice_Site_p.E90_splice|PMF1-BGLAP_ENST00000320139.5_Splice_Site_p.E90_splice|PMF1_ENST00000466489.1_3'UTR|PMF1_ENST00000368279.3_Splice_Site_p.E90_splice|PMF1_ENST00000567140.1_Splice_Site_p.E90_splice|PMF1_ENST00000565805.1_Splice_Site_p.E90_splice|PMF1-BGLAP_ENST00000368276.4_Splice_Site_p.E90_splice|PMF1_ENST00000368273.4_Splice_Site_p.E92_splice	p.E90_splice	NM_007221.3	NP_009152.2					3	277	+	Hepatocellular(266;0.158)								Splice_Site	SNP	ENST00000368273.4	37	c.267_splice	CCDS55648.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927608	0.52759	.	.	ENSG00000160783	ENST00000368279;ENST00000368273;ENST00000368277;ENST00000368276;ENST00000320139	.	.	.	5.11	5.11	0.69529	.	0.130010	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.0405	14.0219	0.64560	0.0:0.0:1.0:0.0	.	.	.	.	X	90;92;90;90;90	.	.	E	+	1	0	PMF1	154470043	1.000000	0.71417	0.999000	0.59377	0.843000	0.47879	5.794000	0.69067	2.400000	0.81607	0.484000	0.47621	GAG		0.443	PMF1-005	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040864.2	NM_007221	Nonsense_Mutation	4	110	1	0	0.014758	1	0.014758	4	110				
ACTRT1	139741	broad.mit.edu	37	X	127185975	127185975	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:127185975G>T	ENST00000371124.3	-	1	407	c.211C>A	c.(211-213)Cac>Aac	p.H71N		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	71						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ATGGGGTAGTGCAAATGTAGG	0.473																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(211-213)Cac>Aac		actin-related protein T1							151.0	139.0	143.0					X																	127185975		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185975G>T	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.211C>A	X.37:g.127185975G>T	ENSP00000360165:p.His71Asn						p.H71N	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	407	-			71					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.211C>A	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	4.504	0.093547	0.08632	.	.	ENSG00000123165	ENST00000371124	D	0.94092	-3.35	3.76	3.76	0.43208	.	0.761606	0.12113	N	0.498360	D	0.84960	0.5588	N	0.11064	0.09	0.25398	N	0.98847	B	0.16166	0.016	B	0.14578	0.011	T	0.76699	-0.2863	10	0.87932	D	0	.	7.8247	0.29307	0.0:0.0:0.753:0.247	.	71	Q8TDG2	ACTT1_HUMAN	N	71	ENSP00000360165:H71N	ENSP00000360165:H71N	H	-	1	0	ACTRT1	127013656	0.997000	0.39634	0.034000	0.17996	0.083000	0.17756	2.507000	0.45442	2.133000	0.65898	0.544000	0.68410	CAC		0.473	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		6	60	1	0	3.59834e-05	1	3.83823e-05	6	60				
HYDIN	54768	broad.mit.edu	37	16	70843713	70843713	+	Silent	SNP	T	T	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr16:70843713T>A	ENST00000393567.2	-	85	15006	c.14856A>T	c.(14854-14856)acA>acT	p.T4952T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4952					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCCTCTGCCGTGTGTAATTGA	0.507																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(14854-14856)acA>acT		HYDIN, axonemal central pair apparatus protein							187.0	188.0	188.0					16																	70843713		1956	4147	6103	SO:0001819	synonymous_variant	54768							g.chr16:70843713T>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.14856A>T	16.37:g.70843713T>A							p.T4952T	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			85	15006	-		Ovarian(137;0.0654)	4952					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.14856A>T	CCDS59269.1																																																																																				0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			9	89	0	0	0	1	0	9	89				
ABCA4	24	broad.mit.edu	37	1	94517208	94517208	+	Silent	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr1:94517208C>T	ENST00000370225.3	-	17	2720	c.2634G>A	c.(2632-2634)tcG>tcA	p.S878S	ABCA4_ENST00000535735.1_Silent_p.S804S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	878					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAAGCCAATACGACTCTTGTA	0.418																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(2632-2634)tcG>tcA		ATP-binding cassette, sub-family A (ABC1), member 4							78.0	72.0	74.0					1																	94517208		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94517208C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2634G>A	1.37:g.94517208C>T						ABCA4_ENST00000535735.1_Silent_p.S804S	p.S878S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	17	2720	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	878					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.2634G>A	CCDS747.1																																																																																				0.418	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		7	56	0	0	0	1	0	7	56				
PCDH17	27253	broad.mit.edu	37	13	58207773	58207773	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr13:58207773G>A	ENST00000377918.3	+	1	1119	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	365	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAGCGAGGCCGCCCCTCCCGG	0.682																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1093-1095)Gcc>Acc		protocadherin 17							33.0	35.0	34.0					13																	58207773		2203	4299	6502	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207773G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1093G>A	13.37:g.58207773G>A	ENSP00000367151:p.Ala365Thr						p.A365T	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1119	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	365			Cadherin 4.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1093G>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150125	0.78001	.	.	ENSG00000118946	ENST00000377918	T	0.55413	0.52	5.46	4.61	0.57282	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.65270	0.2675	L	0.53671	1.685	0.58432	D	0.999999	P;D	0.65815	0.948;0.995	P;D	0.64877	0.761;0.93	T	0.64550	-0.6381	9	.	.	.	.	14.5147	0.67811	0.0714:0.0:0.9286:0.0	.	365;365	O14917-2;O14917	.;PCD17_HUMAN	T	365	ENSP00000367151:A365T	.	A	+	1	0	PCDH17	57105774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.644000	0.74338	1.301000	0.44836	0.650000	0.86243	GCC		0.682	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		11	24	0	0	0	1	0	11	24				
IGHV6-1	28385	broad.mit.edu	37	14	106405838	106405838	+	RNA	SNP	C	C	T	rs571474919		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr14:106405838C>T	ENST00000390593.2	-	0	187									immunoglobulin heavy variable 6-1																		ACACTGTCCCCGGAGATGGCA	0.577													.|||	1	0.000199681	0.0	0.0014	5008	,	,		9568	0.0		0.0	False		,,,				2504	0.0					ENST00000390593.2																			0																				82.0	84.0	83.0					14																	106405838		2086	4211	6297			0							g.chr14:106405838C>T	X92224		14q32.33	2012-02-08			ENSG00000211933	ENSG00000211933		"""Immunoglobulins / IGH locus"""	5662	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152324		14.37:g.106405838C>T														0	187	-									RNA	SNP	ENST00000390593.2	37																																																																																						0.577	IGHV6-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325886.1	NG_001019		16	55	0	0	0	1	0	16	55				
GMIP	51291	broad.mit.edu	37	19	19745500	19745500	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:19745500C>T	ENST00000203556.4	-	18	2037	c.1900G>A	c.(1900-1902)Gtg>Atg	p.V634M	GMIP_ENST00000445806.2_Missense_Mutation_p.V605M|GMIP_ENST00000587238.1_Missense_Mutation_p.V608M|GMIP_ENST00000586269.1_Intron	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	634	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AAGGGGATCACGGGCTCGGTG	0.667																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1900-1902)Gtg>Atg		GEM interacting protein							121.0	123.0	123.0					19																	19745500		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19745500C>T	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1900G>A	19.37:g.19745500C>T	ENSP00000203556:p.Val634Met					GMIP_ENST00000587238.1_Missense_Mutation_p.V608M|GMIP_ENST00000586269.1_Intron|GMIP_ENST00000445806.2_Missense_Mutation_p.V605M	p.V634M	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			18	2037	-			634			Rho-GAP.		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.1900G>A	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735493	0.49045	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.48201	0.82;0.82	4.85	2.24	0.28232	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.236110	0.22606	N	0.057883	T	0.65933	0.2739	M	0.87180	2.865	0.37434	D	0.914141	D;D;D	0.62365	0.991;0.986;0.991	P;D;P	0.63283	0.837;0.913;0.837	T	0.72903	-0.4151	10	0.87932	D	0	-13.0058	8.6041	0.33762	0.0:0.7357:0.1618:0.1025	.	605;608;634	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	M	634;605	ENSP00000203556:V634M;ENSP00000397075:V605M	ENSP00000203556:V634M	V	-	1	0	GMIP	19606500	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-0.408000	0.07169	1.003000	0.39130	0.561000	0.74099	GTG		0.667	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		21	119	0	0	0	1	0	21	119				
KDM3B	51780	broad.mit.edu	37	5	137763721	137763721	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr5:137763721G>A	ENST00000314358.5	+	20	4899	c.4699G>A	c.(4699-4701)Gtt>Att	p.V1567I	KDM3B_ENST00000394866.1_Missense_Mutation_p.V1223I|KDM3B_ENST00000542866.1_Missense_Mutation_p.V599I	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1567	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTCTGATGCTGTTAATGTGAT	0.433																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(4699-4701)Gtt>Att		lysine (K)-specific demethylase 3B							350.0	326.0	334.0					5																	137763721		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137763721G>A	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4699G>A	5.37:g.137763721G>A	ENSP00000326563:p.Val1567Ile					KDM3B_ENST00000394866.1_Missense_Mutation_p.V1223I|KDM3B_ENST00000542866.1_Missense_Mutation_p.V599I	p.V1567I	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			20	4899	+			1567			JmjC.		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.4699G>A	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256245	0.95336	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.69561	-0.41;-0.41;-0.41	5.81	5.81	0.92471	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	T	0.72930	0.3522	M	0.67953	2.075	0.80722	D	1	P;P	0.37997	0.518;0.614	B;B	0.43360	0.303;0.417	T	0.71882	-0.4458	10	0.45353	T	0.12	-15.5711	20.0838	0.97793	0.0:0.0:1.0:0.0	.	1223;1567	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	I	1567;1357;1223;599	ENSP00000326563:V1567I;ENSP00000378335:V1223I;ENSP00000439462:V599I	ENSP00000326563:V1567I	V	+	1	0	KDM3B	137791620	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	9.615000	0.98356	2.741000	0.93983	0.655000	0.94253	GTT		0.433	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		26	117	0	0	0	1	0	26	117				
PCBP3	54039	broad.mit.edu	37	21	47349908	47349908	+	Splice_Site	SNP	C	C	T	rs371552951		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr21:47349908C>T	ENST00000400314.1	+	12	1133	c.795C>T	c.(793-795)ccC>ccT	p.P265P	PCBP3_ENST00000400309.1_Splice_Site_p.P264P|PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400304.1_Splice_Site_p.P255P|PCBP3_ENST00000400310.1_Splice_Site_p.P265P|PCBP3_ENST00000400308.1_Splice_Site_p.P239P|PCBP3_ENST00000449640.1_Splice_Site_p.P265P			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	265					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCGCTTTCCCCGGTACGTACC	0.567																																						ENST00000400314.1																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.e12+1		poly(rC) binding protein 3		C	,	0,4024		0,0,2012	123.0	136.0	132.0		717,795	3.3	1.0	21		132	1,8339		0,1,4169	no	coding-synonymous-near-splice,coding-synonymous-near-splice	PCBP3	NM_001130141.1,NM_020528.2	,	0,1,6181	TT,TC,CC		0.012,0.0,0.0081	,	239/346,265/372	47349908	1,12363	2012	4170	6182	SO:0001630	splice_region_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47349908C>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.796+1C>T	21.37:g.47349908C>T						PCBP3_ENST00000449640.1_Splice_Site_p.P265_splice|PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400304.1_Splice_Site_p.P255_splice|PCBP3_ENST00000400308.1_Splice_Site_p.P239_splice|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400309.1_Splice_Site_p.P264_splice|PCBP3_ENST00000400310.1_Splice_Site_p.P265_splice	p.P265_splice			P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	12	1133	+	all_hematologic(128;0.24)		265					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Splice_Site	SNP	ENST00000400314.1	37	c.796_splice	CCDS42974.2																																																																																				0.567	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2		Silent	5	48	0	0	0	1	0	5	48				
MEGF6	1953	broad.mit.edu	37	1	3428622	3428622	+	Silent	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr1:3428622C>T	ENST00000356575.4	-	8	1150	c.924G>A	c.(922-924)aaG>aaA	p.K308K	MEGF6_ENST00000294599.4_Silent_p.K203K	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	308	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GACACACGCACTTGAAGGACC	0.667																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(922-924)aaG>aaA		multiple EGF-like-domains 6							56.0	67.0	64.0					1																	3428622		2129	4211	6340	SO:0001819	synonymous_variant	1953					extracellular region	calcium ion binding	g.chr1:3428622C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.924G>A	1.37:g.3428622C>T						MEGF6_ENST00000294599.4_Silent_p.K203K	p.K308K	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	8	1150	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	308			EGF-like 5; calcium-binding (Potential).		Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	c.924G>A	CCDS41237.1																																																																																				0.667	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		12	63	0	0	0	1	0	12	63				
PRKACA	5566	broad.mit.edu	37	19	14213651	14213651	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:14213651C>T	ENST00000308677.4	-	4	509	c.313G>A	c.(313-315)Gtc>Atc	p.V105I	PRKACA_ENST00000589994.1_Missense_Mutation_p.V97I|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						TCGAGTTTGACGAGGAACGGA	0.597																																						ENST00000308677.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						c.(313-315)Gtc>Atc		protein kinase, cAMP-dependent, catalytic, alpha							200.0	162.0	175.0					19																	14213651		2203	4300	6503	SO:0001583	missense	5566				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:14213651C>T		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.313G>A	19.37:g.14213651C>T	ENSP00000309591:p.Val105Ile					PRKACA_ENST00000589994.1_Missense_Mutation_p.V97I|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron	p.V105I	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN			4	509	-			105			Protein kinase.		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	ENST00000308677.4	37	c.313G>A	CCDS12304.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063125	0.55432	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695;ENST00000536649	T	0.12569	2.67	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42548	D	0.000691	T	0.20292	0.0488	L	0.41632	1.29	0.47698	D	0.99949	P;P;P;P	0.46512	0.604;0.784;0.577;0.879	P;P;P;P	0.51453	0.499;0.63;0.67;0.518	T	0.01786	-1.1274	10	0.15952	T	0.53	.	17.2007	0.86906	0.0:1.0:0.0:0.0	.	47;88;105;97	B7Z708;Q15136;P17612;P17612-2	.;.;KAPCA_HUMAN;.	I	105;97;105;47	ENSP00000309591:V105I	ENSP00000309591:V105I	V	-	1	0	PRKACA	14074651	1.000000	0.71417	0.996000	0.52242	0.018000	0.09664	7.763000	0.85283	2.654000	0.90174	0.563000	0.77884	GTC		0.597	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		11	68	0	0	0	1	0	11	68				
GZMH	2999	broad.mit.edu	37	14	25075816	25075816	+	Missense_Mutation	SNP	C	C	T	rs140139906		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr14:25075816C>T	ENST00000216338.4	-	5	778	c.734G>A	c.(733-735)cGc>cAc	p.R245H	GZMH_ENST00000557220.2_Missense_Mutation_p.R114H|GZMH_ENST00000382548.4_Missense_Mutation_p.R159H|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA	NM_033423.4	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	245					apoptotic process (GO:0006915)|cytolysis (GO:0019835)	membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		CTGTTAGAGGCGCTTCATTGT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		18525	0.001		0.0	False		,,,				2504	0.0					ENST00000216338.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12						c.(733-735)cGc>cAc		granzyme H (cathepsin G-like 2, protein h-CCPX)		C	HIS/ARG	0,4406		0,0,2203	146.0	129.0	135.0		734	-4.1	0.0	14	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	missense	GZMH	NM_033423.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	245/247	25075816	1,13005	2203	4300	6503	SO:0001583	missense	2999				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	g.chr14:25075816C>T	M72150	CCDS9632.1, CCDS59243.1	14q11.2	2003-10-20			ENSG00000100450	ENSG00000100450			4710	protein-coding gene	gene with protein product		116831		CTSGL2		2049336	Standard	NM_033423		Approved	CGL-2, CCP-X, CTLA1, CSP-C	uc001wpr.2	P20718	OTTHUMG00000140185	ENST00000216338.4:c.734G>A	14.37:g.25075816C>T	ENSP00000216338:p.Arg245His					RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000382548.4_Missense_Mutation_p.R159H|GZMH_ENST00000557220.2_Missense_Mutation_p.R114H|RP11-104E19.1_ENST00000557736.1_RNA	p.R245H	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN		GBM - Glioblastoma multiforme(265;0.0267)	5	778	-			245					G3V2C5|Q6XGZ0|Q6XGZ1	Missense_Mutation	SNP	ENST00000216338.4	37	c.734G>A	CCDS9632.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	9.300	1.052925	0.19907	0.0	1.16E-4	ENSG00000100450	ENST00000216338;ENST00000382547;ENST00000382548	D;D	0.90069	-2.56;-2.61	4.24	-4.05	0.03998	.	.	.	.	.	T	0.78729	0.4329	L	0.35288	1.05	0.09310	N	1	B;B	0.18013	0.0;0.025	B;B	0.08055	0.0;0.003	T	0.61530	-0.7044	9	0.34782	T	0.22	.	6.1456	0.20283	0.1553:0.2097:0.0:0.635	.	159;245	Q6XGZ1;P20718	.;GRAH_HUMAN	H	245;114;159	ENSP00000216338:R245H;ENSP00000371988:R159H	ENSP00000216338:R245H	R	-	2	0	GZMH	24145656	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.621000	0.00412	-0.787000	0.04510	0.561000	0.74099	CGC		0.532	GZMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276538.2	NM_033423		16	78	0	0	0	1	0	16	78				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs189343211		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	57	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667																																						ENST00000391417.4																			4	Substitution - Missense(4)	p.S57P(4)	urinary_tract(2)|kidney(2)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(169-171)Tct>Cct		keratin associated protein 4-7							18.0	28.0	25.0					17																	39240627		691	1590	2281	SO:0001583	missense	100132476							g.chr17:39240627T>C	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.169T>C	17.37:g.39240627T>C	ENSP00000375236:p.Ser57Pro						p.S57P	NM_033061.3	NP_149050.3					1	169	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.169T>C	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.387	-0.925721	0.02377	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.01272	5.07	3.6	-0.386	0.12466	.	1.254490	0.05892	N	0.628448	T	0.00695	0.0023	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.43572	-0.9383	9	0.02654	T	1	.	4.4551	0.11639	0.0:0.4346:0.1731:0.3923	.	57	Q9BYR0	KRA47_HUMAN	P	57	ENSP00000375236:S57P	ENSP00000375236:S57P	S	+	1	0	KRTAP4-9;KRTAP4-7	36494153	0.000000	0.05858	0.033000	0.17914	0.157000	0.22087	-0.806000	0.04525	0.004000	0.14682	0.374000	0.22700	TCT		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			4	28	0	0	0	1	0	4	28				
OR4C6	219432	broad.mit.edu	37	11	55432865	55432865	+	Missense_Mutation	SNP	G	G	A	rs201388016	byFrequency	TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr11:55432865G>A	ENST00000314259.3	+	1	252	c.223G>A	c.(223-225)Gtt>Att	p.V75I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCATCTGTCGTTGCCCCCAA	0.448													g|||	9	0.00179712	0.0008	0.0	5008	,	,		19397	0.002		0.001	False		,,,				2504	0.0051					ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(223-225)Gtt>Att		olfactory receptor, family 4, subfamily C, member 6		G	ILE/VAL	1,4399	2.1+/-5.4	0,1,2199	248.0	215.0	226.0		223	-2.1	0.0	11		226	3,8589	3.0+/-9.4	0,3,4293	yes	missense	OR4C6	NM_001004704.1	29	0,4,6492	AA,AG,GG		0.0349,0.0227,0.0308	benign	75/310	55432865	4,12988	2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432865G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.223G>A	11.37:g.55432865G>A	ENSP00000324769:p.Val75Ile						p.V75I	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	252	+			75					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.223G>A	CCDS31506.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	0.018	-1.476546	0.01035	2.27E-4	3.49E-4	ENSG00000181903	ENST00000314259	T	0.01406	4.93	3.83	-2.14	0.07123	GPCR, rhodopsin-like superfamily (1);	0.395490	0.18367	N	0.143383	T	0.00608	0.0020	N	0.05177	-0.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47774	-0.9091	10	0.02654	T	1	.	5.3444	0.16000	0.5373:0.149:0.3137:0.0	.	75	Q8NH72	OR4C6_HUMAN	I	75	ENSP00000324769:V75I	ENSP00000324769:V75I	V	+	1	0	OR4C6	55189441	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.095000	0.15127	-0.002000	0.14469	-1.261000	0.01458	GTT		0.448	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		13	52	0	0	0	1	0	13	52				
SLC12A5	57468	broad.mit.edu	37	20	44682327	44682327	+	Silent	SNP	G	G	A	rs546939045		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr20:44682327G>A	ENST00000454036.2	+	20	2776	c.2727G>A	c.(2725-2727)gcG>gcA	p.A909A	SLC12A5_ENST00000243964.3_Silent_p.A886A	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	909					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCATCACTGCGGAGGTCGAGG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		21767	0.0		0.0	False		,,,				2504	0.001					ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(2725-2727)gcG>gcA		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						205.0	175.0	185.0					20																	44682327		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44682327G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2727G>A	20.37:g.44682327G>A						SLC12A5_ENST00000243964.3_Silent_p.A886A	p.A909A	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			20	2803	+		Myeloproliferative disorder(115;0.0122)	909					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.2727G>A	CCDS46610.1																																																																																				0.537	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			12	51	0	0	0	1	0	12	51				
AC005013.5	0	broad.mit.edu	37	7	28997483	28997483	+	lincRNA	SNP	G	G	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr7:28997483G>A	ENST00000436594.1	+	0	192				TRIL_ENST00000322982.3_RNA																							AGGTGAGCACGTCGTGGGGGC	0.652																																						ENST00000322982.3																			0													TLR4 interactor with leucine-rich repeats							77.0	82.0	81.0					7																	28997483		2070	4187	6257			9865				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding	g.chr7:28997483G>A																													7.37:g.28997483G>A						AC005013.5_ENST00000436594.1_lincRNA				Q7L0X0	TRIL_HUMAN			0	451	-									RNA	SNP	ENST00000436594.1	37																																																																																						0.652	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000327953.3			7	56	0	0	0	1	0	7	56				
TATDN1	83940	broad.mit.edu	37	8	125499608	125499608	+	IGR	SNP	G	G	A	rs189596016		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr8:125499608G>A	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Missense_Mutation_p.R573Q|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTTGCCTTCGGAAATGGCTG	0.348																																						ENST00000303545.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20						c.(1717-1719)cGg>cAg		ring finger protein 139							80.0	73.0	76.0					8																	125499608		2203	4300	6503	SO:0001628	intergenic_variant	11236				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125499608G>A	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125499608G>A							p.R573Q	NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	2090	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		573					B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	c.1718G>A	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338533	0.81911	.	.	ENSG00000170881	ENST00000303545	T	0.42131	0.98	5.64	5.64	0.86602	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.49184	0.1542	N	0.11201	0.11	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57734	-0.7760	10	0.59425	D	0.04	-9.5011	20.0625	0.97681	0.0:0.0:1.0:0.0	.	573	Q8WU17	RN139_HUMAN	Q	573	ENSP00000304051:R573Q	ENSP00000304051:R573Q	R	+	2	0	RNF139	125568789	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.341000	0.79300	2.816000	0.96949	0.561000	0.74099	CGG		0.348	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		3	33	0	0	0	1	0	3	33				
SUPT6H	6830	broad.mit.edu	37	17	27011735	27011735	+	Silent	SNP	C	C	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr17:27011735C>A	ENST00000314616.6	+	18	2644	c.2361C>A	c.(2359-2361)tcC>tcA	p.S787S	SUPT6H_ENST00000347486.4_Silent_p.S787S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	787	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TTGCTTTCTCCTCTGCCAGGT	0.468																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2359-2361)tcC>tcA		suppressor of Ty 6 homolog (S. cerevisiae)							147.0	134.0	138.0					17																	27011735		2203	4300	6503	SO:0001819	synonymous_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27011735C>A	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2361C>A	17.37:g.27011735C>A						SUPT6H_ENST00000347486.4_Silent_p.S787S	p.S787S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			18	2644	+	Lung NSC(42;0.00431)		787					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.2361C>A	CCDS32596.1																																																																																				0.468	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		3	36	1	0	0.004672	1	0.00487513	3	36				
DDX41	51428	broad.mit.edu	37	5	176942200	176942200	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr5:176942200C>T	ENST00000507955.1	-	7	1154	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	211					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GTGGGGATGCCCTGGATCTGA	0.527																																						ENST00000507955.1																			0											c.(631-633)Ggc>Agc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							265.0	224.0	238.0					5																	176942200		2203	4300	6503	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176942200C>T	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.631G>A	5.37:g.176942200C>T	ENSP00000422753:p.Gly211Ser					DDX41_ENST00000506965.1_5'UTR	p.G211S	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		7	1154	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	211					B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.631G>A	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090732	0.94149	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.39787	1.06;1.06	5.53	4.67	0.58626	DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.056843	0.64402	N	0.000001	T	0.45478	0.1344	N	0.10945	0.07	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.56038	-0.8045	10	0.87932	D	0	-36.9553	14.3169	0.66457	0.0:0.9287:0.0:0.0713	.	211	Q9UJV9	DDX41_HUMAN	S	229;211	ENSP00000330349:G229S;ENSP00000422753:G211S	ENSP00000330349:G229S	G	-	1	0	DDX41	176874806	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.528000	0.81941	1.340000	0.45581	0.563000	0.77884	GGC		0.527	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		7	72	0	0	0	1	0	7	72				
USH2A	7399	broad.mit.edu	37	1	216144041	216144041	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr1:216144041C>T	ENST00000307340.3	-	36	7269	c.6883G>A	c.(6883-6885)Gga>Aga	p.G2295R	USH2A_ENST00000366943.2_Missense_Mutation_p.G2295R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2295	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGAGCAAATCCGTAAGCACGA	0.418										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(6883-6885)Gga>Aga		Usher syndrome 2A (autosomal recessive, mild)							110.0	105.0	107.0					1																	216144041		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216144041C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6883G>A	1.37:g.216144041C>T	ENSP00000305941:p.Gly2295Arg	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.G2295R	p.G2295R			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	36	7269	-			2295			Fibronectin type-III 9.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6883G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604941	0.87157	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58797	0.31;0.31	5.81	5.81	0.92471	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.42964	D	0.000627	T	0.79100	0.4389	M	0.83603	2.65	0.51482	D	0.999928	D	0.89917	1.0	D	0.77004	0.989	T	0.77645	-0.2510	10	0.40728	T	0.16	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	2295	O75445	USH2A_HUMAN	R	2295	ENSP00000305941:G2295R;ENSP00000355910:G2295R	ENSP00000305941:G2295R	G	-	1	0	USH2A	214210664	0.999000	0.42202	0.932000	0.37286	0.919000	0.55068	4.478000	0.60230	2.746000	0.94184	0.591000	0.81541	GGA		0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	108	0	0	0	1	0	5	108				
UTRN	7402	broad.mit.edu	37	6	145157448	145157448	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr6:145157448T>C	ENST00000367545.3	+	70	9836	c.9836T>C	c.(9835-9837)gTg>gCg	p.V3279A	UTRN_ENST00000367526.4_Missense_Mutation_p.V834A	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3279					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AATCTACAGGTGGAGTATGAG	0.488																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(9835-9837)gTg>gCg		utrophin							125.0	135.0	132.0					6																	145157448		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145157448T>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9836T>C	6.37:g.145157448T>C	ENSP00000356515:p.Val3279Ala					UTRN_ENST00000367526.4_Missense_Mutation_p.V834A	p.V3279A	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	70	9836	+		Ovarian(120;0.218)	3279					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.9836T>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	3.303	-0.142412	0.06669	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.81078	-1.45;-1.45	5.91	2.03	0.26663	.	0.300780	0.24530	N	0.037726	T	0.15349	0.0370	N	0.00260	-1.75	0.25646	N	0.986146	B	0.02656	0.0	B	0.08055	0.003	T	0.48570	-0.9024	10	0.02654	T	1	.	6.4913	0.22117	0.1161:0.1289:0.0:0.755	.	3279	P46939	UTRO_HUMAN	A	3279;834	ENSP00000356515:V3279A;ENSP00000356496:V834A	ENSP00000356496:V834A	V	+	2	0	UTRN	145199141	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.233000	0.43027	0.490000	0.27771	0.533000	0.62120	GTG		0.488	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			26	117	0	0	0	1	0	26	117				
CD96	10225	broad.mit.edu	37	3	111263902	111263902	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr3:111263902A>G	ENST00000283285.5	+	2	202	c.71A>G	c.(70-72)gAa>gGa	p.E24G	CD96_ENST00000352690.4_Missense_Mutation_p.E24G|CD96_ENST00000438817.2_Missense_Mutation_p.E24G	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	24					cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GGAGTTTGGGAAAAAACAGTC	0.403									Opitz Trigonocephaly syndrome																													ENST00000352690.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						c.(70-72)gAa>gGa		CD96 molecule							107.0	106.0	106.0					3																	111263902		2203	4300	6503	SO:0001583	missense	0	Opitz Trigonocephaly syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111263902A>G	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.71A>G	3.37:g.111263902A>G	ENSP00000283285:p.Glu24Gly					CD96_ENST00000283285.5_Missense_Mutation_p.E24G|CD96_ENST00000438817.2_Missense_Mutation_p.E24G	p.E24G	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN			2	311	+			24					Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.71A>G	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	A	7.007	0.555991	0.13436	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.65549	-0.15;-0.16;-0.16	5.21	-1.35	0.09114	.	0.521728	0.19082	N	0.123220	T	0.39572	0.1083	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.16630	-1.0396	10	0.39692	T	0.17	-2.5289	10.1409	0.42734	0.5706:0.0:0.4294:0.0	.	24;24;24;24	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	G	24	ENSP00000342040:E24G;ENSP00000283285:E24G;ENSP00000389801:E24G	ENSP00000283285:E24G	E	+	2	0	CD96	112746592	0.882000	0.30256	0.037000	0.18230	0.000000	0.00434	0.327000	0.19663	-0.554000	0.06150	-1.937000	0.00501	GAA		0.403	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			6	51	0	0	0	1	0	6	51				
RYR1	6261	broad.mit.edu	37	19	38989877	38989877	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:38989877G>A	ENST00000359596.3	+	43	7021	c.7021G>A	c.(7021-7023)Gtc>Atc	p.V2341I	RYR1_ENST00000360985.3_Missense_Mutation_p.V2341I|RYR1_ENST00000355481.4_Missense_Mutation_p.V2341I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2341	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGCTGTCTTCGTCAACGGTGA	0.607																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(7021-7023)Gtc>Atc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						88.0	67.0	74.0					19																	38989877		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38989877G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7021G>A	19.37:g.38989877G>A	ENSP00000352608:p.Val2341Ile					RYR1_ENST00000360985.3_Missense_Mutation_p.V2341I|RYR1_ENST00000359596.3_Missense_Mutation_p.V2341I	p.V2341I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		43	7152	+	all_cancers(60;7.91e-06)		2341			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7021G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463784	0.26335	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.95447	-3.71;-3.71;-3.71	3.69	3.69	0.42338	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000014	D	0.95971	0.8688	L	0.39397	1.21	0.46011	D	0.998814	D;P	0.71674	0.998;0.955	D;B	0.73708	0.981;0.398	D	0.95852	0.8875	10	0.48119	T	0.1	.	15.1881	0.73020	0.0:0.0:1.0:0.0	.	2341;2341	P21817-2;P21817	.;RYR1_HUMAN	I	2341	ENSP00000352608:V2341I;ENSP00000347667:V2341I;ENSP00000354254:V2341I	ENSP00000347667:V2341I	V	+	1	0	RYR1	43681717	0.896000	0.30565	0.854000	0.33618	0.163000	0.22366	2.190000	0.42630	1.890000	0.54733	0.313000	0.20887	GTC		0.607	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			6	41	0	0	0	1	0	6	41				
MAGEA6	4105	broad.mit.edu	37	X	151870216	151870216	+	Silent	SNP	A	A	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:151870216A>T	ENST00000329342.5	+	3	1131	c.906A>T	c.(904-906)ccA>ccT	p.P302P		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	302	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTACCCACTCCTGCATG	0.567																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(904-906)ccA>ccT		melanoma antigen family A, 6							123.0	120.0	121.0					X																	151870216		2202	4298	6500	SO:0001819	synonymous_variant	4105						protein binding	g.chrX:151870216A>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.906A>T	X.37:g.151870216A>T							p.P302P	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	1131	+	Acute lymphoblastic leukemia(192;6.56e-05)		302			MAGE.		A8IF93|Q6NW44	Silent	SNP	ENST00000329342.5	37	c.906A>T	CCDS14708.1																																																																																				0.567	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		22	50	0	0	0	1	0	22	50				
RP11-640M9.2	0	broad.mit.edu	37	1	144598726	144598726	+	RNA	SNP	A	A	C			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr1:144598726A>C	ENST00000419820.1	+	0	654																											CATTCGGTGCACCAAGAGCAA	0.572																																						ENST00000419820.1																			0																																																			0							g.chr1:144598726A>C																													1.37:g.144598726A>C														0	654	+									RNA	SNP	ENST00000419820.1	37																																																																																						0.572	RP11-640M9.2-011	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000038365.1			3	9	0	0	0	1	0	3	9				
DZIP1	22873	broad.mit.edu	37	13	96239899	96239899	+	Silent	SNP	C	C	T	rs111764824		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr13:96239899C>T	ENST00000376829.2	-	20	2963	c.2112G>A	c.(2110-2112)ccG>ccA	p.P704P	DZIP1_ENST00000361396.2_Silent_p.P685P|DZIP1_ENST00000361156.3_Silent_p.P685P|DZIP1_ENST00000347108.3_Silent_p.P704P	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	704					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.P685P(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTTGTGGTGGCGGCACAGGAA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		17885	0.001		0.0	False		,,,				2504	0.0					ENST00000347108.3																			1	Substitution - coding silent(1)	p.P685P(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.(2110-2112)ccG>ccA		DAZ interacting zinc finger protein 1							126.0	105.0	112.0					13																	96239899		2203	4300	6503	SO:0001819	synonymous_variant	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96239899C>T	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2112G>A	13.37:g.96239899C>T						DZIP1_ENST00000361156.3_Silent_p.P685P|DZIP1_ENST00000376829.2_Silent_p.P704P|DZIP1_ENST00000361396.2_Silent_p.P685P	p.P704P			Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		18	2544	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		704					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Silent	SNP	ENST00000376829.2	37	c.2112G>A	CCDS9478.1																																																																																				0.567	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		4	57	0	0	0	1	0	4	57				
LCTL	197021	broad.mit.edu	37	15	66850145	66850145	+	Silent	SNP	G	G	A	rs202013638		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr15:66850145G>A	ENST00000341509.5	-	8	968	c.837C>T	c.(835-837)gcC>gcT	p.A279A	LCTL_ENST00000537670.1_Silent_p.A106A	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	279					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTATCTCTCGGCAGCCTCTA	0.498																																						ENST00000341509.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(835-837)gcC>gcT		lactase-like							98.0	105.0	103.0					15																	66850145		2201	4299	6500	SO:0001819	synonymous_variant	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66850145G>A	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.837C>T	15.37:g.66850145G>A						LCTL_ENST00000537670.1_Silent_p.A106A	p.A279A	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN			8	968	-			279					B3KQY0	Silent	SNP	ENST00000341509.5	37	c.837C>T	CCDS10220.1																																																																																				0.498	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		8	102	0	0	0	1	0	8	102				
AHNAK2	113146	broad.mit.edu	37	14	105419126	105419126	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr14:105419126C>T	ENST00000333244.5	-	7	2781	c.2662G>A	c.(2662-2664)Gct>Act	p.A888T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	888						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGGTCAGCGGAAGGGGGC	0.647																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2662-2664)Gct>Act		AHNAK nucleoprotein 2							116.0	134.0	128.0					14																	105419126		1886	4105	5991	SO:0001583	missense	113146					nucleus		g.chr14:105419126C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2662G>A	14.37:g.105419126C>T	ENSP00000353114:p.Ala888Thr					AHNAK2_ENST00000557457.1_Intron	p.A888T	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2781	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	888					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2662G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	9.311	1.055575	0.19907	.	.	ENSG00000185567	ENST00000333244	T	0.00892	5.57	4.16	0.138	0.14793	.	.	.	.	.	T	0.01124	0.0037	M	0.69248	2.105	0.09310	N	1	P	0.50272	0.933	B	0.39152	0.292	T	0.46020	-0.9221	9	0.10111	T	0.7	-5.9297	8.0052	0.30321	0.0:0.6507:0.0:0.3493	.	888	Q8IVF2	AHNK2_HUMAN	T	888	ENSP00000353114:A888T	ENSP00000353114:A888T	A	-	1	0	AHNAK2	104490171	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.106000	0.15354	-0.332000	0.08489	-1.386000	0.01163	GCT		0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		11	165	0	0	0	1	0	11	165				
QSOX1	5768	broad.mit.edu	37	1	180159574	180159574	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr1:180159574G>A	ENST00000367602.3	+	10	1221	c.1147G>A	c.(1147-1149)Gtt>Att	p.V383I	QSOX1_ENST00000367600.5_Missense_Mutation_p.V383I			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	383					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCAGGGTGCCGTTCTTGCCAA	0.542																																						ENST00000367602.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1147-1149)Gtt>Att		quiescin Q6 sulfhydryl oxidase 1							202.0	190.0	194.0					1																	180159574		2203	4300	6503	SO:0001583	missense	5768				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	g.chr1:180159574G>A	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.1147G>A	1.37:g.180159574G>A	ENSP00000356574:p.Val383Ile					QSOX1_ENST00000367600.5_Missense_Mutation_p.V383I	p.V383I			O00391	QSOX1_HUMAN			10	1221	+			383					Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	ENST00000367602.3	37	c.1147G>A	CCDS1337.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962602	0.53400	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.17213	3.48;2.29	4.7	0.59	0.17458	.	0.258293	0.38164	N	0.001781	T	0.14700	0.0355	M	0.74881	2.28	0.09310	N	1	P;P;P	0.43094	0.698;0.525;0.799	B;B;B	0.37601	0.129;0.085;0.254	T	0.24693	-1.0153	10	0.16896	T	0.51	-9.7051	6.521	0.22275	0.2831:0.1203:0.5966:0.0	.	383;383;383	A8K477;O00391;O00391-2	.;QSOX1_HUMAN;.	I	383	ENSP00000356574:V383I;ENSP00000356572:V383I	ENSP00000356572:V383I	V	+	1	0	QSOX1	178426197	0.074000	0.21230	0.001000	0.08648	0.535000	0.34838	0.668000	0.25127	0.092000	0.17331	0.563000	0.77884	GTT		0.542	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		31	176	0	0	0	1	0	31	176				
BRWD3	254065	broad.mit.edu	37	X	79984395	79984395	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:79984395C>A	ENST00000373275.4	-	14	1458	c.1242G>T	c.(1240-1242)ttG>ttT	p.L414F		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	414					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTCCAGATGGCAAATTATTGC	0.338																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(1240-1242)ttG>ttT		bromodomain and WD repeat domain containing 3							92.0	78.0	83.0					X																	79984395		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79984395C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1242G>T	X.37:g.79984395C>A	ENSP00000362372:p.Leu414Phe						p.L414F	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			14	1458	-			414					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1242G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	9.511	1.105837	0.20632	.	.	ENSG00000165288	ENST00000373275	T	0.55760	0.5	4.4	2.61	0.31194	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	1.055530	0.07388	N	0.888554	T	0.43144	0.1234	L	0.46157	1.445	0.20074	N	0.999932	B	0.19935	0.04	B	0.15870	0.014	T	0.29671	-1.0004	9	.	.	.	-2.3199	5.3834	0.16204	0.1513:0.5981:0.0:0.2506	.	414	Q6RI45	BRWD3_HUMAN	F	414	ENSP00000362372:L414F	.	L	-	3	2	BRWD3	79871051	0.908000	0.30866	1.000000	0.80357	0.788000	0.44548	0.178000	0.16820	0.984000	0.38629	0.422000	0.28245	TTG		0.338	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		11	42	1	0	7.03913e-09	1	7.67905e-09	11	42				
SMPD2	6610	broad.mit.edu	37	6	109763184	109763184	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr6:109763184A>T	ENST00000258052.3	+	4	591	c.232A>T	c.(232-234)Att>Ttt	p.I78F	PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	78					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CAGCGGAATCATTGGCAGTGG	0.502																																						ENST00000258052.3																			0				endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(232-234)Att>Ttt		sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)							241.0	244.0	243.0					6																	109763184		2203	4300	6503	SO:0001583	missense	6610				induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr6:109763184A>T	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.232A>T	6.37:g.109763184A>T	ENSP00000258052:p.Ile78Phe						p.I78F	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)	4	591	+		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	78					Q5TED1|Q9BWR3	Missense_Mutation	SNP	ENST00000258052.3	37	c.232A>T	CCDS5075.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407380	0.42715	.	.	ENSG00000135587	ENST00000258052	T	0.29917	1.55	5.22	4.01	0.46588	Endonuclease/exonuclease/phosphatase (2);	0.097154	0.64402	N	0.000002	T	0.06280	0.0162	N	0.20685	0.6	0.50171	D	0.999853	B	0.17667	0.023	B	0.23419	0.046	T	0.17107	-1.0380	10	0.07644	T	0.81	-0.5466	8.2718	0.31849	0.8088:0.0:0.0:0.1912	.	78	O60906	NSMA_HUMAN	F	78	ENSP00000258052:I78F	ENSP00000258052:I78F	I	+	1	0	SMPD2	109869877	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	2.827000	0.48112	0.933000	0.37291	0.533000	0.62120	ATT		0.502	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			28	156	0	0	0	1	0	28	156				
CPAMD8	27151	broad.mit.edu	37	19	17057993	17057993	+	Silent	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:17057993C>T	ENST00000443236.1	-	21	2725	c.2694G>A	c.(2692-2694)ggG>ggA	p.G898G		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	851						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGCCAGGATGCCCAACAAACT	0.602																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(2692-2694)ggG>ggA		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							166.0	166.0	166.0					19																	17057993		2062	4215	6277	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17057993C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2694G>A	19.37:g.17057993C>T							p.G898G	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			21	2725	-			851					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.2694G>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	9.252	1.041049	0.19669	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.46	-2.37	0.06643	.	0.143097	0.47093	D	0.000256	T	0.52075	0.1712	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46162	-0.9211	6	0.44086	T	0.13	.	4.9666	0.14094	0.0:0.4046:0.2933:0.3021	.	.	.	.	D	909	.	ENSP00000402505:G909D	G	-	2	0	CPAMD8	16918993	0.920000	0.31207	0.023000	0.16930	0.979000	0.70002	-0.159000	0.10056	0.015000	0.14971	0.491000	0.48974	GGC		0.602	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		4	176	0	0	0	1	0	4	176				
CD200R1L	344807	broad.mit.edu	37	3	112546090	112546090	+	Splice_Site	SNP	T	T	C			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr3:112546090T>C	ENST00000398214.1	-	4	656		c.e4-2		CD200R1L_ENST00000448932.1_Splice_Site|CD200R1L_ENST00000488794.1_Splice_Site	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like							integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CGGGTGTAACTGCAGAGAGGA	0.428																																						ENST00000488794.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.e6-2		CD200 receptor 1-like							47.0	47.0	47.0					3																	112546090		2196	4298	6494	SO:0001630	splice_region_variant	344807					integral to membrane	receptor activity	g.chr3:112546090T>C	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.431-2A>G	3.37:g.112546090T>C						CD200R1L_ENST00000448932.1_Splice_Site|CD200R1L_ENST00000398214.1_Splice_Site				Q6Q8B3	MO2R2_HUMAN			6	957	-								Q6WHB7	Splice_Site	SNP	ENST00000398214.1	37		CCDS43131.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.589508	0.28357	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1697	0.42902	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CD200R1L	114028780	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	4.093000	0.57714	1.955000	0.56771	0.533000	0.62120	.		0.428	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784	Intron	10	53	0	0	0	1	0	10	53				
TSHZ3	57616	broad.mit.edu	37	19	31767790	31767790	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:31767790T>C	ENST00000240587.4	-	2	3236	c.2909A>G	c.(2908-2910)gAc>gGc	p.D970G		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	970					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)					GTGGCCAGTGTCCAAGTTTTT	0.522																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2908-2910)gAc>gGc		teashirt zinc finger homeobox 3							66.0	62.0	64.0					19																	31767790		2203	4300	6503	SO:0001583	missense	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.chr19:31767790T>C	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.2909A>G	19.37:g.31767790T>C	ENSP00000240587:p.Asp970Gly						p.D970G	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	3236	-	Esophageal squamous(110;0.226)		970					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2909A>G	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.163653	0.78226	.	.	ENSG00000121297	ENST00000240587	T	0.19250	2.16	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.44117	0.1278	L	0.60455	1.87	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.32561	-0.9902	10	0.72032	D	0.01	-38.0373	16.216	0.82217	0.0:0.0:0.0:1.0	.	970	Q63HK5	TSH3_HUMAN	G	970	ENSP00000240587:D970G	ENSP00000240587:D970G	D	-	2	0	TSHZ3	36459630	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.671000	0.83941	2.228000	0.72767	0.482000	0.46254	GAC		0.522	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		5	43	0	0	0	1	0	5	43				
MYH2	4620	broad.mit.edu	37	17	10440625	10440625	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr17:10440625C>T	ENST00000245503.5	-	16	2206	c.1822G>A	c.(1822-1824)Gtg>Atg	p.V608M	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.V608M|MYH2_ENST00000397183.2_Missense_Mutation_p.V608M|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	608	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGTCCAACCACGGTCTCATTC	0.488																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(1822-1824)Gtg>Atg		myosin, heavy chain 2, skeletal muscle, adult							142.0	144.0	144.0					17																	10440625		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10440625C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1822G>A	17.37:g.10440625C>T	ENSP00000245503:p.Val608Met					CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.V608M|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.V608M	p.V608M	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			16	2206	-			608			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.1822G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371851	0.61624	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.88124	-2.34;-2.34;-2.34	5.53	5.53	0.82687	Myosin head, motor domain (2);	0.000000	0.35466	U	0.003193	D	0.95755	0.8619	H	0.95745	3.715	0.58432	D	0.999999	D;P	0.89917	1.0;0.949	D;P	0.87578	0.998;0.901	D	0.96788	0.9580	10	0.87932	D	0	.	18.4518	0.90707	0.0:1.0:0.0:0.0	.	608;608	Q567P6;Q9UKX2	.;MYH2_HUMAN	M	608	ENSP00000433944:V608M;ENSP00000245503:V608M;ENSP00000380367:V608M	ENSP00000245503:V608M	V	-	1	0	MYH2	10381350	1.000000	0.71417	0.979000	0.43373	0.064000	0.16182	7.809000	0.86057	2.611000	0.88343	0.650000	0.86243	GTG		0.488	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		17	66	0	0	0	1	0	17	66				
CSMD3	114788	broad.mit.edu	37	8	114326822	114326822	+	Missense_Mutation	SNP	G	G	A	rs370667704		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr8:114326822G>A	ENST00000297405.5	-	2	623	c.379C>T	c.(379-381)Cat>Tat	p.H127Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.H87Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.H127Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H127Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	127	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H87N(1)|p.H127N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTGTAGGATGAGGATGTCCA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			2	Substitution - Missense(2)	p.H87N(1)|p.H127N(1)	lung(2)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(379-381)Cat>Tat		CUB and Sushi multiple domains 3		G	TYR/HIS,TYR/HIS,TYR/HIS	1,4405	2.1+/-5.4	0,1,2202	125.0	117.0	120.0		379,379,259	5.7	1.0	8		120	0,8600		0,0,4300	no	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	83,83,83	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	127/3539,127/3708,87/3668	114326822	1,13005	2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114326822G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.379C>T	8.37:g.114326822G>A	ENSP00000297405:p.His127Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.H127Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H127Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.H87Y	p.H127Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			2	623	-			127			CUB 1.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.379C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908210	0.52333	2.27E-4	0.0	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.72	5.72	0.89469	CUB (5);	0.000000	0.64402	D	0.000005	T	0.30230	0.0758	N	0.25201	0.72	0.32972	D	0.522517	B;P;D;D;B	0.76494	0.255;0.886;0.999;0.969;0.035	B;B;D;D;B	0.70227	0.145;0.359;0.943;0.968;0.039	T	0.18618	-1.0331	10	0.56958	D	0.05	.	18.8756	0.92334	0.0:0.0:1.0:0.0	.	127;127;127;127;87	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407;Q7Z407-2	.;.;.;CSMD3_HUMAN;.	Y	87;127;127;127	ENSP00000345799:H87Y;ENSP00000297405:H127Y;ENSP00000412263:H127Y;ENSP00000343124:H127Y	ENSP00000297405:H127Y	H	-	1	0	CSMD3	114395998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.588000	0.74076	2.697000	0.92050	0.557000	0.71058	CAT		0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		9	45	0	0	0	1	0	9	45				
NR4A3	8013	broad.mit.edu	37	9	102590779	102590779	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr9:102590779C>T	ENST00000395097.2	+	3	1184	c.455C>T	c.(454-456)gCg>gTg	p.A152V	NR4A3_ENST00000338488.4_Missense_Mutation_p.A152V|NR4A3_ENST00000330847.1_Missense_Mutation_p.A163V	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	152					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CCCCCGCAGGCGGGGGCGTTA	0.741			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(487-489)gCg>gTg		nuclear receptor subfamily 4, group A, member 3							18.0	23.0	21.0					9																	102590779		2146	4211	6357	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590779C>T	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.455C>T	9.37:g.102590779C>T	ENSP00000378531:p.Ala152Val					NR4A3_ENST00000395097.2_Missense_Mutation_p.A152V|NR4A3_ENST00000338488.4_Missense_Mutation_p.A152V	p.A163V			Q92570	NR4A3_HUMAN			2	532	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	152					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	c.488C>T	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491934	0.44352	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	D;D;D	0.91068	-2.77;-2.34;-2.78	5.21	2.99	0.34606	.	1.667310	0.02875	N	0.132179	T	0.82199	0.4985	N	0.08118	0	0.22001	N	0.999428	B;B;B	0.26975	0.021;0.102;0.165	B;B;B	0.18871	0.016;0.017;0.023	T	0.66956	-0.5792	10	0.16896	T	0.51	.	13.7261	0.62759	0.4096:0.5904:0.0:0.0	.	163;152;152	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	V	152;152;163	ENSP00000378531:A152V;ENSP00000340301:A152V;ENSP00000333122:A163V	ENSP00000333122:A163V	A	+	2	0	NR4A3	101630600	0.954000	0.32549	0.955000	0.39395	0.959000	0.62525	1.909000	0.39917	1.267000	0.44247	0.557000	0.71058	GCG		0.741	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			4	28	0	0	0	1	0	4	28				
XPOT	11260	broad.mit.edu	37	12	64825398	64825398	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr12:64825398C>A	ENST00000332707.5	+	18	2586	c.2057C>A	c.(2056-2058)aCa>aAa	p.T686K		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	686	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TGTTTACAGACATTCTTGCCA	0.413																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2056-2058)aCa>aAa		exportin, tRNA							101.0	91.0	95.0					12																	64825398		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64825398C>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2057C>A	12.37:g.64825398C>A	ENSP00000327821:p.Thr686Lys						p.T686K	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	18	2586	+			686			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.2057C>A	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891179	0.52014	.	.	ENSG00000184575	ENST00000332707;ENST00000538086	T;T	0.67698	1.02;-0.28	5.01	5.01	0.66863	Armadillo-like helical (1);Armadillo-type fold (1);	0.207799	0.49305	D	0.000147	T	0.53142	0.1778	L	0.29908	0.895	0.58432	D	0.999995	B	0.31519	0.327	B	0.18871	0.023	T	0.50980	-0.8763	9	.	.	.	.	18.7765	0.91913	0.0:1.0:0.0:0.0	.	686	O43592	XPOT_HUMAN	K	686;208	ENSP00000327821:T686K;ENSP00000444345:T208K	.	T	+	2	0	XPOT	63111665	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.644000	0.61397	2.539000	0.85634	0.549000	0.68633	ACA		0.413	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		4	51	1	0	0.00909568	1	0.00928921	4	51				
CPA3	1359	broad.mit.edu	37	3	148582959	148582960	+	5'Flank	INS	-	-	A	rs143382113		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr3:148582959_148582960insA	ENST00000296046.3	+	0	0				RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)						angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCTCCAGCTGGAAAAAAAAAAC	0.436																																						ENST00000488190.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr3:148582959_148582960insA		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526		3.37:g.148582969_148582969dupA	Exception_encountered													0	304	-								Q96E94	RNA	INS	ENST00000296046.3	37		CCDS3138.1																																																																																				0.436	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		2	4						2	4	---	---	---	---
MTA1	9112	broad.mit.edu	37	14	105927271	105927271	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr14:105927271delC	ENST00000331320.7	+	10	1137	c.923delC	c.(922-924)acgfs	p.T308fs	MTA1_ENST00000405646.1_Frame_Shift_Del_p.T291fs|MTA1_ENST00000435036.2_5'Flank|MTA1_ENST00000406191.1_Frame_Shift_Del_p.T308fs	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	308	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		AAGGATTTCACGGACATTCAG	0.597																																						ENST00000331320.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14						c.(922-924)agfs		metastasis associated 1							109.0	108.0	109.0					14																	105927271		2203	4300	6503	SO:0001589	frameshift_variant	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105927271delC	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.923delC	14.37:g.105927271delC	ENSP00000333633:p.Thr308fs					MTA1_ENST00000406191.1_Frame_Shift_Del_p.T308fs|MTA1_ENST00000405646.1_Frame_Shift_Del_p.T291fs	p.T308fs	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	10	1137	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	308			SANT.		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Frame_Shift_Del	DEL	ENST00000331320.7	37	c.923delC	CCDS32169.1																																																																																				0.597	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			2	4						2	4	---	---	---	---
