#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ACOT2	10965	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	74036025	74036025	+	Silent	SNP	C	C	G			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr14:74036025C>G	ENST00000238651.5	+	1	263	c.81C>G	c.(79-81)gtC>gtG	p.V27V	ACOT2_ENST00000538782.1_5'UTR	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	27					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.V27V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CTCCTGCTGTCCTTCGAGCGT	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											171.0	155.0	160.0					14																	74036025		2203	4300	6503	SO:0001819	synonymous_variant	10965			AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.81C>G	14.37:g.74036025C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q3I5F8|Q53EK4|Q9NUX4	Silent	SNP	ENST00000238651.5	37	CCDS9816.1																																																																																				0.557	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1		NM_006821	
ADCY3	109	hgsc.bcm.edu	37	2	25061418	25061419	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr2:25061418_25061419insG	ENST00000260600.5	-	7	2279_2280	c.1428_1429insC	c.(1426-1431)ggcagcfs	p.S477fs	ADCY3_ENST00000405392.1_Frame_Shift_Ins_p.S110fs	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	477					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCACAGCGGCTGCCCCCATCGC	0.559																																																	0																																										SO:0001589	frameshift_variant	109			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1429dupC	2.37:g.25061419_25061419dupG	ENSP00000260600:p.Ser477fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KT86|Q53T54|Q9UDB1	Frame_Shift_Ins	INS	ENST00000260600.5	37	CCDS1715.1																																																																																				0.559	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			
ADCY5	111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	123005537	123005537	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr3:123005537T>C	ENST00000462833.1	-	20	4864	c.3652A>G	c.(3652-3654)Atc>Gtc	p.I1218V	ADCY5_ENST00000309879.5_Missense_Mutation_p.I868V|ADCY5_ENST00000491190.1_Missense_Mutation_p.I876V|RP11-797D24.4_ENST00000608436.1_RNA	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1218					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.I1218V(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTCACCTGGATGCGGTCGGGT	0.632											OREG0015741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											169.0	126.0	140.0					3																	123005537		2203	4300	6503	SO:0001583	missense	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3652A>G	3.37:g.123005537T>C	ENSP00000419361:p.Ile1218Val	Somatic	1523	WXS	Illumina HiSeq	Phase_I	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.854527	0.91355	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.81415	-1.49;-1.49;-1.49	5.15	5.15	0.70609	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.85150	0.5631	L	0.56769	1.78	0.80722	D	1	P;P	0.51933	0.949;0.47	P;P	0.56434	0.798;0.642	D	0.86144	0.1583	10	0.54805	T	0.06	.	15.1539	0.72723	0.0:0.0:0.0:1.0	.	1218;876	O95622;B3KWA8	ADCY5_HUMAN;.	V	1218;876;868	ENSP00000419361:I1218V;ENSP00000418537:I876V;ENSP00000308685:I868V	ENSP00000308685:I868V	I	-	1	0	ADCY5	124488227	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.868000	0.87116	2.163000	0.67991	0.460000	0.39030	ATC		0.632	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4		XM_171048	
AGTPBP1	23287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	88207597	88207597	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr9:88207597C>T	ENST00000357081.3	-	19	2590	c.2446G>A	c.(2446-2448)Gtt>Att	p.V816I	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.V828I|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.V776I			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	816					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.V776I(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CCTGCAGCAACTGAACTTCTT	0.318																																																	1	Substitution - Missense(1)	kidney(1)											155.0	163.0	160.0					9																	88207597		2203	4298	6501	SO:0001583	missense	23287			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2446G>A	9.37:g.88207597C>T	ENSP00000349592:p.Val816Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37		.	.	.	.	.	.	.	.	.	.	C	6.416	0.444919	0.12164	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.17528	2.29;2.28;2.27	5.87	3.93	0.45458	.	0.225496	0.43110	N	0.000604	T	0.04092	0.0114	N	0.00538	-1.39	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.003	T	0.26950	-1.0088	10	0.27785	T	0.31	-10.4597	5.7096	0.17927	0.0:0.6142:0.0:0.3858	.	828;816;776	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	I	816;776;828	ENSP00000349592:V816I;ENSP00000365251:V776I;ENSP00000365277:V828I	ENSP00000349592:V816I	V	-	1	0	AGTPBP1	87397417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.630000	0.46494	1.376000	0.46267	0.591000	0.81541	GTT		0.318	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1		NM_015239	
AGXT	189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	241808356	241808356	+	Missense_Mutation	SNP	T	T	C	rs180177262		TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr2:241808356T>C	ENST00000307503.3	+	1	461	c.74T>C	c.(73-75)cTg>cCg	p.L25P		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	25					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)	p.L25P(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	AACCAGCTCCTGCTGGGGCCT	0.647																																																	1	Substitution - Missense(1)	kidney(1)	GRCh37	CM072846	AGXT	M							34.0	40.0	38.0					2																	241808356		2203	4300	6503	SO:0001583	missense	189			D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.74T>C	2.37:g.241808356T>C	ENSP00000302620:p.Leu25Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	37	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.424865	0.43020	.	.	ENSG00000172482	ENST00000307503	D	0.96913	-4.17	4.42	4.42	0.53409	Pyridoxal phosphate-dependent transferase, major domain (1);	0.198290	0.41938	D	0.000781	D	0.98645	0.9546	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99552	1.0966	10	0.87932	D	0	-17.1239	13.6788	0.62472	0.0:0.0:0.0:1.0	.	25;25	B7Z548;P21549	.;SPYA_HUMAN	P	25	ENSP00000302620:L25P	ENSP00000302620:L25P	L	+	2	0	AGXT	241457029	1.000000	0.71417	0.938000	0.37757	0.015000	0.08874	6.871000	0.75531	1.639000	0.50556	0.397000	0.26171	CTG		0.647	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1		NM_000030	
ANO10	55129	broad.mit.edu	37	3	43474215	43474215	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr3:43474215G>A	ENST00000292246.3	-	12	1972	c.1802C>T	c.(1801-1803)gCa>gTa	p.A601V	ANO10_ENST00000451430.2_Missense_Mutation_p.A490V|ANO10_ENST00000414522.2_Intron|ANO10_ENST00000350459.4_Missense_Mutation_p.A411V|ANO10_ENST00000396091.3_Missense_Mutation_p.A535V	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	601					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.A601V(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						AGCCAGGAGTGCGTGCTGAAA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											85.0	80.0	82.0					3																	43474215		2203	4300	6503	SO:0001583	missense	55129			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1802C>T	3.37:g.43474215G>A	ENSP00000292246:p.Ala601Val	Somatic		WXS	Illumina GAIIx	Phase_I	A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37	CCDS2710.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.108|1.108	-0.659174|-0.659174	0.03454|0.03454	.|.	.|.	ENSG00000160746|ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000396091;ENST00000451430|ENST00000448045	T;T;T;T|.	0.61040|.	0.14;0.14;0.14;0.14|.	5.49|5.49	3.72|3.72	0.42706|0.42706	.|.	0.405226|.	0.22842|.	N|.	0.054975|.	T|T	0.08980|0.08980	0.0222|0.0222	N|N	0.00841|0.00841	-1.15|-1.15	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.17465|.	0.001;0.022;0.0;0.0|.	B;B;B;B|.	0.15484|.	0.001;0.013;0.002;0.001|.	T|T	0.30268|0.30268	-0.9984|-0.9984	10|5	0.02654|.	T|.	1|.	.|.	8.5526|8.5526	0.33460|0.33460	0.2918:0.0:0.7082:0.0|0.2918:0.0:0.7082:0.0	.|.	490;411;535;601|.	Q9NW15-4;Q9NW15-2;Q9NW15-3;Q9NW15|.	.;.;.;ANO10_HUMAN|.	V|Y	601;411;535;490|129	ENSP00000292246:A601V;ENSP00000327767:A411V;ENSP00000379398:A535V;ENSP00000394119:A490V|.	ENSP00000292246:A601V|.	A|H	-|-	2|1	0|0	ANO10|ANO10	43449219|43449219	0.101000|0.101000	0.21875|0.21875	0.140000|0.140000	0.22221|0.22221	0.898000|0.898000	0.52572|0.52572	2.041000|2.041000	0.41213|0.41213	0.704000|0.704000	0.31869|0.31869	-0.225000|-0.225000	0.12378|0.12378	GCA|CAC		0.368	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2		NM_018075	
ARHGAP17	55114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	24942263	24942263	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr16:24942263G>T	ENST00000289968.6	-	19	2426	c.2357C>A	c.(2356-2358)aCt>aAt	p.T786N	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.T708N|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	786	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)	p.T786N(1)|p.T708N(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TGGCTGTGCAGTTTCAGGGTT	0.637																																																	2	Substitution - Missense(2)	kidney(2)											72.0	81.0	78.0					16																	24942263		2197	4300	6497	SO:0001583	missense	55114			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2357C>A	16.37:g.24942263G>T	ENSP00000289968:p.Thr786Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	G	5.740	0.320912	0.10845	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.20738	2.05;2.12	5.52	0.598	0.17512	.	0.526148	0.16016	N	0.233534	T	0.24160	0.0585	L	0.43152	1.355	0.09310	N	1	B;B;D;P;B	0.56035	0.145;0.09;0.974;0.578;0.144	B;B;P;B;B	0.53146	0.054;0.024;0.719;0.088;0.087	T	0.08269	-1.0730	10	0.42905	T	0.14	.	7.4494	0.27229	0.1689:0.2626:0.5685:0.0	.	708;786;319;619;347	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9;B4DVF3	.;RHG17_HUMAN;.;.;.	N	786;708;786	ENSP00000289968:T786N;ENSP00000303130:T708N	ENSP00000289968:T786N	T	-	2	0	ARHGAP17	24849764	0.002000	0.14202	0.008000	0.14137	0.001000	0.01503	0.905000	0.28504	0.248000	0.21435	-0.172000	0.13284	ACT		0.637	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3		NM_018054	
ATP1A2	477	broad.mit.edu;ucsc.edu	37	1	160093040	160093040	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:160093040G>T	ENST00000361216.3	+	4	304	c.215G>T	c.(214-216)cGa>cTa	p.R72L	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R72L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	72					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.R72L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTTCTGGCTCGAGATGGGCCC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											115.0	113.0	113.0					1																	160093040		2203	4300	6503	SO:0001583	missense	477			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.215G>T	1.37:g.160093040G>T	ENSP00000354490:p.Arg72Leu	Somatic		WXS	Illumina GAIIx	Phase_I	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081522	0.36758	.	.	ENSG00000018625	ENST00000361216;ENST00000392233	T;T	0.79653	-1.29;-1.29	5.1	5.1	0.69264	ATPase, P-type cation-transporter, N-terminal (2);	0.164660	0.40554	N	0.001076	T	0.71796	0.3382	M	0.75615	2.305	0.47778	D	0.999517	B	0.06786	0.001	B	0.17433	0.018	T	0.74551	-0.3628	10	0.72032	D	0.01	.	10.9404	0.47270	0.0861:0.0:0.9139:0.0	.	72	P50993	AT1A2_HUMAN	L	72	ENSP00000354490:R72L;ENSP00000376066:R72L	ENSP00000354490:R72L	R	+	2	0	ATP1A2	158359664	0.945000	0.32115	1.000000	0.80357	0.123000	0.20343	2.399000	0.44495	2.644000	0.89710	0.561000	0.74099	CGA		0.642	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2		NM_000702	
HECTD4	283450	broad.mit.edu;hgsc.bcm.edu	37	12	112673071	112673071	+	Splice_Site	SNP	C	C	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr12:112673071C>A	ENST00000430131.2	-	36	5605		c.e36-1		HECTD4_ENST00000550722.1_Splice_Site|HECTD4_ENST00000377560.5_Splice_Site			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4						glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.?(2)									GTCTGACATCCTTTAAGCAAA	0.403																																																	2	Unknown(2)	kidney(2)											58.0	57.0	57.0					12																	112673071		1887	4136	6023	SO:0001630	splice_region_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4460-1G>T	12.37:g.112673071C>A		Somatic		WXS	Illumina HiSeq	Phase_I	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Splice_Site	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	C	28.7	4.945292	0.92593	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C12orf51	111157454	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.400000	0.79949	2.854000	0.98071	0.655000	0.94253	.		0.403	HECTD4-202	KNOWN	basic	protein_coding	protein_coding			NM_173813	Intron
NOXRED1	122945	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	77880341	77880341	+	Silent	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr14:77880341C>T	ENST00000380835.2	-	2	451	c.285G>A	c.(283-285)ctG>ctA	p.L95L	FKSG61_ENST00000595520.1_5'Flank|NOXRED1_ENST00000298358.3_Silent_p.L95L	NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	95					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)	p.L95L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CAAGCTGCAGCAGTGTGCCAG	0.572																																																	2	Substitution - coding silent(2)	kidney(2)											50.0	45.0	47.0					14																	77880341		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 148"""	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.285G>A	14.37:g.77880341C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KQ47|O95435	Silent	SNP	ENST00000380835.2	37	CCDS45142.1																																																																																				0.572	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414103.1		NM_138791	
NOA1	84273	hgsc.bcm.edu	37	4	57842813	57842813	+	Silent	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr4:57842813C>T	ENST00000264230.4	-	1	2176	c.939G>A	c.(937-939)gtG>gtA	p.V313V	POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000314595.5_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	313	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										TGATCAGCCGCACGTCCCTGA	0.652																																																	0													60.0	55.0	57.0					4																	57842813		2203	4300	6503	SO:0001819	synonymous_variant	0			AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.939G>A	4.37:g.57842813C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8N7L6|Q9BSQ9	Silent	SNP	ENST00000264230.4	37	CCDS3510.1																																																																																				0.652	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2		NM_032313	
MROH6	642475	broad.mit.edu	37	8	144654816	144654816	+	Silent	SNP	T	T	C	rs200279480		TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr8:144654816T>C	ENST00000398882.3	-	1	325	c.69A>G	c.(67-69)gcA>gcG	p.A23A	RP11-661A12.9_ENST00000531730.1_RNA|MROH6_ENST00000533679.1_5'Flank|NAPRT1_ENST00000460623.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	23								p.A23A(2)									CTTCAGTCAGTGCTGTCAGGG	0.711																																																	2	Substitution - coding silent(2)	kidney(2)											8.0	11.0	10.0					8																	144654816		1861	4087	5948	SO:0001819	synonymous_variant	0			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.69A>G	8.37:g.144654816T>C		Somatic		WXS	Illumina GAIIx	Phase_I	A8MWB1	Silent	SNP	ENST00000398882.3	37	CCDS47928.1																																																																																				0.711	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3		NM_001100878	
CAMK1D	57118	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	12595350	12595350	+	Silent	SNP	G	G	T	rs56079552		TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr10:12595350G>T	ENST00000378847.3	+	2	556	c.219G>T	c.(217-219)ctG>ctT	p.L73L	CAMK1D_ENST00000378845.1_Silent_p.L73L|CAMK1D_ENST00000487696.1_Intron	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	73	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.L73L(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TAGCCGTCCTGAGAAAGTAAG	0.577																																																	2	Substitution - coding silent(2)	kidney(2)											105.0	95.0	98.0					10																	12595350		2203	4300	6503	SO:0001819	synonymous_variant	57118			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.219G>T	10.37:g.12595350G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B0YIY0|Q9HD31	Silent	SNP	ENST00000378847.3	37	CCDS7091.1																																																																																				0.577	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1		NM_020397	
CASKIN1	57524	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2233883	2233883	+	Silent	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr16:2233883G>A	ENST00000343516.6	-	15	1568	c.1476C>T	c.(1474-1476)aaC>aaT	p.N492N	CASKIN1_ENST00000564289.1_Intron	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	492	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.N492N(1)|p.N321N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CGCTGATGAAGTTGGGGGCGT	0.672																																																	2	Substitution - coding silent(2)	kidney(2)											41.0	52.0	48.0					16																	2233883		2156	4271	6427	SO:0001819	synonymous_variant	57524			AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.1476C>T	16.37:g.2233883G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9P2P0	Silent	SNP	ENST00000343516.6	37	CCDS42103.1																																																																																				0.672	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1		NM_020764	
CCDC8	83987	hgsc.bcm.edu	37	19	46914620	46914620	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr19:46914620delG	ENST00000307522.3	-	1	2221	c.1448delC	c.(1447-1449)cctfs	p.P483fs		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	483					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		AAAGCGTCCAGGGGTCTGGAA	0.622																																																	0													59.0	63.0	62.0					19																	46914620		2203	4300	6503	SO:0001589	frameshift_variant	83987			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1448delC	19.37:g.46914620delG	ENSP00000303158:p.Pro483fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TB26	Frame_Shift_Del	DEL	ENST00000307522.3	37	CCDS12685.1																																																																																				0.622	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1		NM_032040	
CD4	920	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6923323	6923323	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr12:6923323A>T	ENST00000011653.4	+	4	488	c.230A>T	c.(229-231)aAt>aTt	p.N77I	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Missense_Mutation_p.N22I	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	77	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)	p.N77I(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	TCCAAGCTGAATGATCGCGCT	0.512																																																	1	Substitution - Missense(1)	kidney(1)											125.0	124.0	124.0					12																	6923323		2203	4300	6503	SO:0001583	missense	920			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.230A>T	12.37:g.6923323A>T	ENSP00000011653:p.Asn77Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	a	7.779	0.709078	0.15239	.	.	ENSG00000010610	ENST00000011653;ENST00000541982	T;T	0.65364	-0.15;0.94	5.21	-10.4	0.00318	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	4.516590	0.00397	N	0.000048	T	0.29491	0.0735	N	0.02916	-0.46	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.001	T	0.29518	-1.0009	10	0.39692	T	0.17	-22.0952	3.6812	0.08310	0.3784:0.1766:0.3571:0.0879	.	22;77	F5H480;P01730	.;CD4_HUMAN	I	77;22	ENSP00000011653:N77I;ENSP00000445167:N22I	ENSP00000011653:N77I	N	+	2	0	CD4	6793584	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.325000	0.01115	-2.601000	0.00451	-2.864000	0.00100	AAT		0.512	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1		NM_000616	
CDC14A	8556	broad.mit.edu	37	1	100964716	100964716	+	Silent	SNP	A	A	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:100964716A>T	ENST00000336454.3	+	15	2008	c.1653A>T	c.(1651-1653)ccA>ccT	p.P551P	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Silent_p.P551P|CDC14A_ENST00000542213.1_Silent_p.P493P|CDC14A_ENST00000544534.1_Silent_p.P551P	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	551					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P551P(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		ACAGCCCCCCAGGCCCCCACA	0.562																																																	1	Substitution - coding silent(1)	kidney(1)											86.0	94.0	91.0					1																	100964716		2203	4300	6503	SO:0001819	synonymous_variant	8556			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1653A>T	1.37:g.100964716A>T		Somatic		WXS	Illumina GAIIx	Phase_I	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Silent	SNP	ENST00000336454.3	37	CCDS769.1																																																																																				0.562	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1		NM_033312	
CHD9	80205	broad.mit.edu	37	16	53308192	53308192	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	G	G	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr16:53308192G>A	ENST00000398510.3	+	23	5032	c.4945G>A	c.(4945-4947)Gta>Ata	p.V1649I	CHD9_ENST00000447540.1_Missense_Mutation_p.V1649I|CHD9_ENST00000564845.1_Missense_Mutation_p.V1649I|CHD9_ENST00000566029.1_Missense_Mutation_p.V1649I			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1649					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.V1649I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GTGTCAGAAAGTATTTGATGG	0.353																																																	1	Substitution - Missense(1)	kidney(1)											126.0	108.0	114.0					16																	53308192		1842	4096	5938	SO:0001583	missense	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4945G>A	16.37:g.53308192G>A	ENSP00000381522:p.Val1649Ile	Somatic		WXS	Illumina GAIIx	Phase_I	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	G	10.18	1.278145	0.23307	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.84298	-1.83;-1.83	5.6	5.6	0.85130	.	0.000000	0.51477	D	0.000097	T	0.74839	0.3769	N	0.13198	0.31	0.58432	D	0.999996	B;B;B;B	0.30146	0.096;0.189;0.176;0.27	B;B;B;B	0.32533	0.021;0.111;0.07;0.147	T	0.71324	-0.4627	10	0.07175	T	0.84	-13.9647	19.2099	0.93749	0.0:0.0:1.0:0.0	.	17;1649;1649;1649	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	I	1649;1649;17	ENSP00000396345:V1649I;ENSP00000381522:V1649I	ENSP00000381522:V1649I	V	+	1	0	CHD9	51865693	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.317000	0.65822	2.644000	0.89710	0.563000	0.77884	GTA		0.353	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1		NM_025134	
CIT	11113	broad.mit.edu	37	12	120151395	120151395	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr12:120151395C>A	ENST00000261833.7	-	33	4291	c.4239G>T	c.(4237-4239)ttG>ttT	p.L1413F	MIR1178_ENST00000408396.1_RNA|CIT_ENST00000392521.2_Missense_Mutation_p.L1455F|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1413					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.L1413F(1)|p.L1441F(1)|p.L1455F(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ATTCAGCAGGCAAGCCGCAGG	0.577																																																	3	Substitution - Missense(3)	kidney(3)											88.0	75.0	79.0					12																	120151395		2203	4300	6503	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4239G>T	12.37:g.120151395C>A	ENSP00000261833:p.Leu1413Phe	Somatic		WXS	Illumina GAIIx	Phase_I	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.82|18.82	3.704577|3.704577	0.68615|0.68615	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|D;D	.|0.84873	.|-1.91;-1.91	6.07|6.07	5.17|5.17	0.71159|0.71159	.|.	.|0.079054	.|0.52532	.|D	.|0.000073	D|D	0.89040|0.89040	0.6602|0.6602	M|M	0.72894|0.72894	2.215|2.215	0.53005|0.53005	D|D	0.999967|0.999967	.|D;D;D	.|0.56746	.|0.961;0.961;0.977	.|P;P;P	.|0.56648	.|0.541;0.541;0.803	D|D	0.89813|0.89813	0.3983|0.3983	5|10	.|0.87932	.|D	.|0	.|.	11.2011|11.2011	0.48741|0.48741	0.0:0.8061:0.1269:0.067|0.0:0.8061:0.1269:0.067	.|.	.|1455;1413;931	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	F|F	1026|1455;1413	.|ENSP00000376306:L1455F;ENSP00000261833:L1413F	.|ENSP00000261833:L1413F	C|L	-|-	2|3	0|2	CIT|CIT	118635778|118635778	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	1.939000|1.939000	0.40213|0.40213	1.549000|1.549000	0.49425|0.49425	0.655000|0.655000	0.94253|0.94253	TGC|TTG		0.577	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4		NM_007174	
CLCN3	1182	hgsc.bcm.edu;ucsc.edu	37	4	170618812	170618815	+	Frame_Shift_Del	DEL	ATTC	ATTC	-			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	ATTC	ATTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr4:170618812_170618815delATTC	ENST00000513761.1	+	9	2049_2052	c.1490_1493delATTC	c.(1489-1494)tattcafs	p.YS497fs	CLCN3_ENST00000504131.2_Frame_Shift_Del_p.YS480fs|CLCN3_ENST00000360642.3_Frame_Shift_Del_p.YS470fs|CLCN3_ENST00000347613.4_Frame_Shift_Del_p.YS497fs	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	497					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		ATTGGAGTATATTCAGCTATATGG	0.407																																																	0																																										SO:0001589	frameshift_variant	1182			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1490_1493delATTC	4.37:g.170618812_170618815delATTC	ENSP00000424603:p.Tyr497fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Frame_Shift_Del	DEL	ENST00000513761.1	37	CCDS34101.1																																																																																				0.407	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			
CNGB3	54714	broad.mit.edu	37	8	87588236	87588236	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr8:87588236T>A	ENST00000320005.5	-	18	2273	c.2226A>T	c.(2224-2226)aaA>aaT	p.K742N		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	742					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.K742N(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GCTCTCTTCCTTTATCTTTAt	0.363																																																	1	Substitution - Missense(1)	kidney(1)											226.0	228.0	227.0					8																	87588236		2203	4300	6503	SO:0001583	missense	54714			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2226A>T	8.37:g.87588236T>A	ENSP00000316605:p.Lys742Asn	Somatic		WXS	Illumina GAIIx	Phase_I	C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.206231	0.39003	.	.	ENSG00000170289	ENST00000320005	T	0.61510	0.1	3.67	3.67	0.42095	.	0.088090	0.46442	D	0.000287	T	0.52709	0.1751	L	0.29908	0.895	0.31318	N	0.686389	P;P	0.50528	0.936;0.808	P;B	0.53401	0.725;0.382	T	0.54906	-0.8223	10	0.26408	T	0.33	.	10.105	0.42528	0.0:0.0:0.0:1.0	.	737;742	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	N	742	ENSP00000316605:K742N	ENSP00000316605:K742N	K	-	3	2	CNGB3	87657352	0.426000	0.25506	0.986000	0.45419	0.290000	0.27261	1.371000	0.34250	1.437000	0.47472	0.260000	0.18958	AAA		0.363	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1		NM_019098	
CS	1431	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56668847	56668847	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr12:56668847T>A	ENST00000351328.3	-	8	1047	c.857A>T	c.(856-858)tAc>tTc	p.Y286F	CS_ENST00000542324.2_Missense_Mutation_p.Y273F|CS_ENST00000548567.1_Missense_Mutation_p.Y220F	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	286					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)	p.Y286F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		AAAGGACAGGTAAGGGTCGGA	0.522																																																	1	Substitution - Missense(1)	kidney(1)											94.0	97.0	96.0					12																	56668847		2203	4300	6503	SO:0001583	missense	1431				CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.857A>T	12.37:g.56668847T>A	ENSP00000342056:p.Tyr286Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	ENST00000351328.3	37	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.123425	0.77436	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000542324	.	.	.	5.55	5.55	0.83447	Citrate synthase-like, large alpha subdomain (1);Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	T	0.72120	0.3421	L	0.60067	1.865	0.80722	D	1	B;B;B	0.34264	0.446;0.22;0.446	P;B;P	0.51777	0.453;0.32;0.679	T	0.68236	-0.5462	9	0.27785	T	0.31	-10.1698	14.9892	0.71374	0.0:0.0:0.0:1.0	.	273;241;286	B4DJV2;B3KTN4;O75390	.;.;CISY_HUMAN	F	220;286;273	.	ENSP00000342056:Y286F	Y	-	2	0	CS	54955114	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.088000	0.71371	2.253000	0.74438	0.454000	0.30748	TAC		0.522	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2		NM_004077	
CTDNEP1	23399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7147938	7147938	+	Silent	SNP	G	G	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr17:7147938G>T	ENST00000573600.1	-	8	1027	c.606C>A	c.(604-606)atC>atA	p.I202I	CTDNEP1_ENST00000574322.1_Silent_p.I202I|GABARAP_ENST00000302386.5_5'Flank|CTDNEP1_ENST00000572043.1_Silent_p.I69I|CTDNEP1_ENST00000318988.6_Silent_p.I202I|GABARAP_ENST00000571253.1_5'Flank|GABARAP_ENST00000571129.1_5'Flank|CTD-2545G14.7_ENST00000570760.2_Nonsense_Mutation_p.S6*|GABARAP_ENST00000573928.1_5'Flank|GABARAP_ENST00000577035.1_5'Flank			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	202	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				gamete generation (GO:0007276)|mesoderm development (GO:0007498)|nuclear envelope organization (GO:0006998)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein dephosphorylation (GO:0006470)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	protein serine/threonine phosphatase activity (GO:0004722)	p.I202I(1)		central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						ACCAGGATTTGATGGGGATGG	0.498																																																	1	Substitution - coding silent(1)	kidney(1)											56.0	54.0	54.0					17																	7147938		2203	4300	6503	SO:0001819	synonymous_variant	23399			AJ011916	CCDS11093.1	17p13	2012-11-27	2010-10-27	2010-10-27	ENSG00000175826	ENSG00000175826		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	19085	protein-coding gene	gene with protein product	"""C-terminal domain nuclear envelope phosphatase 1"""	610684	"""dullard homolog (Xenopus laevis)"""	DULLARD		12083771, 17141153	Standard	NM_015343		Approved	HSA011916, NET56	uc002gfd.2	O95476	OTTHUMG00000102180	ENST00000573600.1:c.606C>A	17.37:g.7147938G>T		Somatic		WXS	Illumina HiSeq	Phase_I	D3DTN7|Q96GQ9	Silent	SNP	ENST00000573600.1	37	CCDS11093.1																																																																																				0.498	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440215.1		NM_015343	
CYP4Z2P	163720	broad.mit.edu	37	1	47333687	47333687	+	RNA	SNP	G	G	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:47333687G>T	ENST00000505841.1	-	0	1001					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.Y333*(1)									GATGCTCAGGGTACTTTGCCA	0.443																																																	1	Substitution - Nonsense(1)	kidney(1)																																										163720			AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47333687G>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q66ZJ5	RNA	SNP	ENST00000505841.1	37																																																																																					0.443	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1		NR_002788	
DDX5	1655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	62496043	62496043	+	Nonstop_Mutation	SNP	A	A	G			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr17:62496043A>G	ENST00000225792.5	-	13	2244	c.1843T>C	c.(1843-1845)Taa>Caa	p.*615Q	DDX5_ENST00000578804.1_Nonstop_Mutation_p.*615Q|MIR3064_ENST00000581130.1_RNA|POLG2_ENST00000539111.2_5'Flank|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000450599.2_Nonstop_Mutation_p.*536Q|DDX5_ENST00000580026.1_5'Flank	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	0					cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)	p.*615Q(2)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CTAAAGTCTTATTGGGAATAT	0.353			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)			Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	2	Nonstop extension(2)	kidney(2)											82.0	71.0	74.0					17																	62496043		2203	4300	6503	SO:0001578	stop_lost	1655			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1843T>C	17.37:g.62496043A>G	ENSP00000225792:p.*615Gluext*24	Somatic		WXS	Illumina HiSeq	Phase_I	B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.063753	0.76187	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2813	0.82687	1.0:0.0:0.0:0.0	.	.	.	.	Q	615;545;604	.	.	X	-	1	0	DDX5	59926505	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.462000	0.90374	2.244000	0.73946	0.533000	0.62120	TAA		0.353	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1		NM_004396	
DEFB116	245930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	29891069	29891069	+	Silent	SNP	G	G	A	rs552225179		TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr20:29891069G>A	ENST00000400549.1	-	2	254	c.255C>T	c.(253-255)taC>taT	p.Y85Y		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	85					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.Y85Y(1)		kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGTTAGAGTCGTAATCCTCCT	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22292	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											290.0	264.0	272.0					20																	29891069		1860	4104	5964	SO:0001819	synonymous_variant	245930			DQ012020	CCDS42860.1	20q11.21	2008-07-17			ENSG00000215545	ENSG00000215545		"""Defensins, beta"""	18097	protein-coding gene	gene with protein product	"""defensin, beta 16"""					11854508, 16033865	Standard	NM_001037731		Approved	DEFB-16	uc010ztm.2	Q30KQ4	OTTHUMG00000159285	ENST00000400549.1:c.255C>T	20.37:g.29891069G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000400549.1	37	CCDS42860.1																																																																																				0.378	DEFB116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354403.1		NM_001037731	
DUOXA1	90527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45412823	45412824	+	Missense_Mutation	DNP	CG	CG	AA	rs147223934	byFrequency	TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C|G	C|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr15:45412823_45412824CG>AA	ENST00000560572.1	-	4	525_526	c.520_521CG>TT	c.(520-522)CGc>TTc	p.R174F	DUOXA1_ENST00000558422.1_Missense_Mutation_p.R129F|DUOXA1_ENST00000558996.1_Missense_Mutation_p.R129F|DUOXA1_ENST00000430224.2_Missense_Mutation_p.R129F|DUOXA1_ENST00000559014.1_Missense_Mutation_p.R174F|DUOXA1_ENST00000267803.4_Missense_Mutation_p.R174F	NM_001276266.1	NP_001263195.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	174					hydrogen peroxide metabolic process (GO:0042743)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R174C(1)|p.R174L(1)|p.R174S(1)|p.R174>?(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		TCCCGCCAGGCGGTACTGGCGG	0.574																																																	4	Substitution - Missense(3)|Complex(1)	kidney(3)|lung(1)																																								SO:0001583	missense	90527			BC029819	CCDS10119.1, CCDS61619.1, CCDS61620.1, CCDS61621.1	15q21.1	2006-11-29	2006-01-23	2006-07-25	ENSG00000140254	ENSG00000140254			26507	protein-coding gene	gene with protein product		612771				16651268	Standard	NM_144565		Approved	FLJ32334, NUMBIP, NIP, mol	uc010bec.4	Q1HG43	OTTHUMG00000131352	ENST00000560572.1:c.520_521delinsAA	15.37:g.45412823_45412824delinsAA	ENSP00000454084:p.Arg174Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N6K9|Q96MI4	Missense_Mutation	SNP	ENST00000560572.1	37																																																																																					0.574	DUOXA1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000416242.1		NM_144565	
ECE1	1889	broad.mit.edu;hgsc.bcm.edu	37	1	21616586	21616586	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:21616586C>T	ENST00000374893.6	-	2	189	c.115G>A	c.(115-117)Gac>Aac	p.D39N	ECE1_ENST00000415912.2_Missense_Mutation_p.D23N|ECE1_ENST00000436918.2_Missense_Mutation_p.D39N|ECE1_ENST00000264205.6_Missense_Mutation_p.D36N	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	39					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)	p.D39N(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GGGTATGCGTCGCCCTCGGAG	0.731																																																	1	Substitution - Missense(1)	kidney(1)											33.0	30.0	31.0					1																	21616586		2201	4297	6498	SO:0001583	missense	1889			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.115G>A	1.37:g.21616586C>T	ENSP00000364028:p.Asp39Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	CCDS215.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127090	0.37533	.	.	ENSG00000117298	ENST00000415912;ENST00000374893;ENST00000436918;ENST00000264205;ENST00000481130;ENST00000527991	D;D;D;D;D	0.92446	-1.57;-1.56;-1.5;-1.56;-3.04	4.8	4.8	0.61643	.	0.715819	0.13836	N	0.359379	D	0.87485	0.6189	L	0.40543	1.245	0.45676	D	0.998594	P;P;P;P	0.38745	0.645;0.491;0.491;0.625	B;B;B;B	0.35039	0.058;0.095;0.095;0.194	D	0.84565	0.0652	10	0.17369	T	0.5	-7.7932	15.7117	0.77631	0.0:1.0:0.0:0.0	.	39;23;39;36	B4DKB2;Q2Z2K8;P42892;P42892-4	.;.;ECE1_HUMAN;.	N	23;39;39;36;25;22	ENSP00000405088:D23N;ENSP00000364028:D39N;ENSP00000388439:D39N;ENSP00000264205:D36N;ENSP00000436633:D25N	ENSP00000264205:D36N	D	-	1	0	ECE1	21489173	1.000000	0.71417	0.988000	0.46212	0.123000	0.20343	6.185000	0.72013	2.373000	0.80994	0.555000	0.69702	GAC		0.731	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2		NM_001397	
AGO4	192670	hgsc.bcm.edu;ucsc.edu	37	1	36290935	36290935	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:36290935delC	ENST00000373210.3	+	4	573	c.328delC	c.(328-330)ccafs	p.P110fs		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	110					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										GGTGACTCTTCCAGGCGAGGG	0.408																																																	0													207.0	203.0	205.0					1																	36290935		2203	4300	6503	SO:0001589	frameshift_variant	192670			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.328delC	1.37:g.36290935delC	ENSP00000362306:p.Pro110fs	Somatic		WXS	Illumina HiSeq	Phase_I	A7MD27	Frame_Shift_Del	DEL	ENST00000373210.3	37	CCDS397.1																																																																																				0.408	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3		NM_017629	
EPHB4	2050	hgsc.bcm.edu	37	7	100403283	100403284	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr7:100403283_100403284insC	ENST00000358173.3	-	15	2985_2986	c.2517_2518insG	c.(2515-2520)ctgcccfs	p.P840fs	EPHB4_ENST00000360620.3_Frame_Shift_Ins_p.P840fs	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	840	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGGGCGGGGGCAGCCGGTAGT	0.614																																					GBM(200;2113 3072 25865 52728)												0																																										SO:0001589	frameshift_variant	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2518dupG	7.37:g.100403284_100403284dupC	ENSP00000350896:p.Pro840fs	Somatic		WXS	Illumina HiSeq	Phase_I	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Frame_Shift_Ins	INS	ENST00000358173.3	37	CCDS5706.1																																																																																				0.614	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1		NM_004444	
FKTN	2218	hgsc.bcm.edu;ucsc.edu	37	9	108377609	108377609	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr9:108377609delA	ENST00000223528.2	+	7	955	c.831delA	c.(829-831)gcafs	p.A277fs	FKTN_ENST00000448551.2_Frame_Shift_Del_p.A277fs|FKTN_ENST00000357998.5_Frame_Shift_Del_p.A277fs|FKTN_ENST00000602661.1_Frame_Shift_Del_p.A277fs|FKTN_ENST00000540160.1_Intron	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	277					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GGAAGAGTGCAAAGGAATTAC	0.398																																																	0													131.0	122.0	125.0					9																	108377609		2203	4300	6503	SO:0001589	frameshift_variant	2218				CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.831delA	9.37:g.108377609delA	ENSP00000223528:p.Ala277fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Frame_Shift_Del	DEL	ENST00000223528.2	37	CCDS6766.1																																																																																				0.398	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1		NM_006731	
FXR2	9513	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7508978	7508978	+	Silent	SNP	T	T	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr17:7508978T>C	ENST00000250113.7	-	3	547	c.213A>G	c.(211-213)gaA>gaG	p.E71E		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	71						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E71E(1)|p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CTTCATCCCCTTCTGTGATCT	0.448																																																	2	Unknown(1)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)											59.0	57.0	58.0					17																	7508978		1885	4120	6005	SO:0001819	synonymous_variant	9513			U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.213A>G	17.37:g.7508978T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Silent	SNP	ENST00000250113.7	37	CCDS45604.1																																																																																				0.448	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			
GNB1	2782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	1749311	1749311	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:1749311C>A	ENST00000378609.4	-	4	392	c.61G>T	c.(61-63)Gcc>Tcc	p.A21S		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	21					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)	p.A21S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GCTTTCCTGGCGTCCTGGGAA	0.507																																																	1	Substitution - Missense(1)	kidney(1)											87.0	76.0	79.0					1																	1749311		2203	4300	6503	SO:0001583	missense	2782			BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.61G>T	1.37:g.1749311C>A	ENSP00000367872:p.Ala21Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	CCDS34.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.546916	0.27652	.	.	ENSG00000078369	ENST00000378609;ENST00000378606;ENST00000434686;ENST00000437146	T;T;T	0.01323	5.01;5.01;5.01	4.92	4.92	0.64577	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.03827	0.0108	M	0.86953	2.85	0.80722	D	1	B	0.06786	0.001	B	0.14023	0.01	T	0.40001	-0.9586	10	0.15952	T	0.53	-12.7427	16.6803	0.85290	0.0:1.0:0.0:0.0	.	21	P62873	GBB1_HUMAN	S	21	ENSP00000367872:A21S;ENSP00000392765:A21S;ENSP00000416651:A21S	ENSP00000367869:A21S	A	-	1	0	GNB1	1739171	1.000000	0.71417	0.994000	0.49952	0.674000	0.39518	7.189000	0.77747	2.284000	0.76573	0.655000	0.94253	GCC		0.507	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3		NM_002074	
GPR19	2842	broad.mit.edu;ucsc.edu	37	12	12815272	12815272	+	Silent	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr12:12815272G>A	ENST00000540510.1	-	2	303	c.111C>T	c.(109-111)agC>agT	p.S37S	GPR19_ENST00000332427.2_Silent_p.S37S			P46093	GPR4_HUMAN	G protein-coupled receptor 19	0					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S37S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		TCAGGTATTGGCTTGGCAGAG	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											137.0	124.0	128.0					12																	12815272		2203	4300	6503	SO:0001819	synonymous_variant	2842				CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.111C>T	12.37:g.12815272G>A		Somatic		WXS	Illumina GAIIx	Phase_I	A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000540510.1	37	CCDS8652.1																																																																																				0.502	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1		NM_006143	
HEPHL1	341208	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	93797666	93797666	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr11:93797666C>A	ENST00000315765.9	+	4	806	c.798C>A	c.(796-798)aaC>aaA	p.N266K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	266	Plastocyanin-like 2.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.N267K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGAGGAGTAACAAAATGCATG	0.383																																																	1	Substitution - Missense(1)	kidney(1)											107.0	94.0	99.0					11																	93797666		1866	4090	5956	SO:0001583	missense	341208			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.798C>A	11.37:g.93797666C>A	ENSP00000313699:p.Asn266Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387033	0.61956	.	.	ENSG00000181333	ENST00000315765	D	0.99388	-5.81	4.98	2.1	0.27182	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99266	0.9744	M	0.87758	2.905	0.42825	D	0.994007	D	0.89917	1.0	D	0.91635	0.999	D	0.99260	1.0890	10	0.49607	T	0.09	.	8.9189	0.35599	0.0:0.6993:0.0:0.3007	.	266	Q6MZM0	HPHL1_HUMAN	K	266	ENSP00000313699:N266K	ENSP00000313699:N266K	N	+	3	2	HEPHL1	93437314	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.116000	0.31221	0.165000	0.19558	0.655000	0.94253	AAC		0.383	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2		XM_291947	
HRC	3270	hgsc.bcm.edu	37	19	49657177	49657178	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr19:49657177_49657178insG	ENST00000252825.4	-	1	1503_1504	c.1317_1318insC	c.(1315-1320)cccagcfs	p.S440fs	HRC_ENST00000595625.1_Frame_Shift_Ins_p.S440fs	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	440					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TGCCTGTGGCTGGGGGCCTGGT	0.55																																					Melanoma(37;75 1097 24567 25669 30645)												0										16,4248		0,16,2116						2.0	0.1			97	24,8228		0,24,4102	no	frameshift	HRC	NM_002152.2		0,40,6218	A1A1,A1R,RR		0.2908,0.3752,0.3196				40,12476				SO:0001589	frameshift_variant	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1318dupC	19.37:g.49657182_49657182dupG	ENSP00000252825:p.Ser440fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q504Y6	Frame_Shift_Ins	INS	ENST00000252825.4	37	CCDS12759.1																																																																																				0.550	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1		NM_002152	
ITGA3	3675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48148238	48148238	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr17:48148238G>T	ENST00000320031.8	+	5	1025	c.695G>T	c.(694-696)tGg>tTg	p.W232L	ITGA3_ENST00000544892.1_Missense_Mutation_p.W7L|ITGA3_ENST00000007722.7_Missense_Mutation_p.W232L	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	232					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)	p.W232L(2)		endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CGCAAGGAGTGGGACTTATCT	0.493																																																	2	Substitution - Missense(2)	kidney(2)											203.0	209.0	207.0					17																	48148238		2203	4300	6503	SO:0001583	missense	3675			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.695G>T	17.37:g.48148238G>T	ENSP00000315190:p.Trp232Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556816	0.86231	.	.	ENSG00000005884	ENST00000544892;ENST00000007722;ENST00000538917;ENST00000320031	T;T;T	0.61274	0.12;0.12;0.12	5.69	5.69	0.88448	.	0.397394	0.30134	N	0.010332	T	0.58595	0.2133	L	0.43598	1.365	0.40621	D	0.981763	P;P	0.51653	0.947;0.847	P;B	0.52386	0.697;0.367	T	0.51718	-0.8670	10	0.11485	T	0.65	.	15.3058	0.73990	0.0:0.0:1.0:0.0	.	232;232	P26006-1;P26006	.;ITA3_HUMAN	L	7;232;218;232	ENSP00000446133:W7L;ENSP00000007722:W232L;ENSP00000315190:W232L	ENSP00000007722:W232L	W	+	2	0	ITGA3	45503237	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.342000	0.65970	2.682000	0.91365	0.655000	0.94253	TGG		0.493	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1		NM_005501	
KCNB1	3745	broad.mit.edu	37	20	47989844	47989844	+	Silent	SNP	A	A	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr20:47989844A>C	ENST00000371741.4	-	2	2419	c.2253T>G	c.(2251-2253)ggT>ggG	p.G751G		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	751					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.G751G(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	ACTGGTGGACACCCGCCTCAA	0.572																																																	2	Substitution - coding silent(2)	prostate(1)|kidney(1)											109.0	119.0	116.0					20																	47989844		2203	4300	6503	SO:0001819	synonymous_variant	3745			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2253T>G	20.37:g.47989844A>C		Somatic		WXS	Illumina GAIIx	Phase_I	Q14193	Silent	SNP	ENST00000371741.4	37	CCDS13418.1																																																																																				0.572	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3		NM_004975	
KLRC2	3822	hgsc.bcm.edu	37	12	10586422	10586422	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr12:10586422delT	ENST00000381902.2	-	4	457	c.451delA	c.(451-453)agtfs	p.S151fs	NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000536833.2_Frame_Shift_Del_p.S92fs|KLRC2_ENST00000381901.1_Frame_Shift_Del_p.S151fs	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	151	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						GAAAGCAGACTGGAGTTCTTC	0.348																																																	0													90.0	102.0	98.0					12																	10586422		2065	4146	6211	SO:0001589	frameshift_variant	3822			X54869	CCDS31745.1	12p13	2009-12-03				ENSG00000205809		"""Killer cell lectin-like receptors"", ""CD molecules"""	6375	protein-coding gene	gene with protein product		602891				9598306	Standard	NM_002260		Approved	NKG2-C, CD159c		P26717		ENST00000381902.2:c.451delA	12.37:g.10586422delT	ENSP00000371327:p.Ser151fs	Somatic		WXS	Illumina HiSeq	Phase_I	O43802|Q52M74|Q9NR42	Frame_Shift_Del	DEL	ENST00000381902.2	37	CCDS31745.1																																																																																				0.348	KLRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400111.1		NM_002260	
LHX1	3975	broad.mit.edu	37	17	35299577	35299577	+	Silent	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr17:35299577C>T	ENST00000254457.5	+	4	2167	c.756C>T	c.(754-756)ttC>ttT	p.F252F	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	252					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.F252F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				ACGCCTTCTTCCGCAGTCCGC	0.711																																																	1	Substitution - coding silent(1)	kidney(1)											10.0	13.0	12.0					17																	35299577		2163	4231	6394	SO:0001819	synonymous_variant	3975			U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.756C>T	17.37:g.35299577C>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q3MIW0	Silent	SNP	ENST00000254457.5	37	CCDS11316.1																																																																																				0.711	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3		NM_005568	
RP11-38M15.11	0	broad.mit.edu	37	13	19435836	19435836	+	lincRNA	SNP	A	A	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr13:19435836A>C	ENST00000418741.1	+	0	978																											aagtttgagaacagcttggga	0.413																																																	0																																												0																															13.37:g.19435836A>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000418741.1	37																																																																																					0.413	RP11-38M15.11-001	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000043983.1			
LRFN3	79414	broad.mit.edu	37	19	36435683	36435683	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr19:36435683C>A	ENST00000588831.1	+	4	2703	c.1649C>A	c.(1648-1650)tCg>tAg	p.S550*	AF038458.3_ENST00000592518.1_lincRNA|LRFN3_ENST00000246529.3_Nonsense_Mutation_p.S550*			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	550					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.S550*(1)|p.S550L(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATCGTAGCCTCGGTACTGGTC	0.667																																																	2	Substitution - Missense(1)|Substitution - Nonsense(1)	upper_aerodigestive_tract(1)|kidney(1)											41.0	29.0	33.0					19																	36435683		2203	4300	6503	SO:0001587	stop_gained	79414			BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.1649C>A	19.37:g.36435683C>A	ENSP00000466989:p.Ser550*	Somatic		WXS	Illumina GAIIx	Phase_I	Q6UY10	Nonsense_Mutation	SNP	ENST00000588831.1	37	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	C	41	8.617035	0.98886	.	.	ENSG00000126243	ENST00000246529	.	.	.	5.08	5.08	0.68730	.	0.000000	0.32655	N	0.005801	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9413	0.79756	0.0:1.0:0.0:0.0	.	.	.	.	X	550	.	ENSP00000246529:S550X	S	+	2	0	LRFN3	41127523	1.000000	0.71417	0.848000	0.33437	0.456000	0.32438	7.745000	0.85046	2.359000	0.80004	0.591000	0.81541	TCG		0.667	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2		NM_024509	
LUZP1	7798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	23418890	23418890	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:23418890G>A	ENST00000302291.4	-	4	2666	c.1865C>T	c.(1864-1866)tCa>tTa	p.S622L	LUZP1_ENST00000418342.1_Missense_Mutation_p.S622L|LUZP1_ENST00000374623.3_Missense_Mutation_p.S622L|LUZP1_ENST00000314174.5_Missense_Mutation_p.S622L			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	622					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)		p.S622L(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTCTTTATGTGAGGTTGAAAA	0.473																																																	1	Substitution - Missense(1)	kidney(1)											167.0	168.0	168.0					1																	23418890		2203	4300	6503	SO:0001583	missense	7798			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1865C>T	1.37:g.23418890G>A	ENSP00000303758:p.Ser622Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	G	1.381	-0.583511	0.03827	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.12879	2.87;2.87;2.87;2.64	5.88	3.69	0.42338	.	0.630291	0.14125	N	0.339767	T	0.04815	0.0130	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37979	-0.9682	10	0.22706	T	0.39	.	7.3549	0.26713	0.3065:0.0:0.6935:0.0	.	622;622	Q86V48-2;Q86V48	.;LUZP1_HUMAN	L	622	ENSP00000393460:S622L;ENSP00000363752:S622L;ENSP00000303758:S622L;ENSP00000313705:S622L	ENSP00000303758:S622L	S	-	2	0	LUZP1	23291477	0.015000	0.18098	0.008000	0.14137	0.151000	0.21798	0.693000	0.25497	1.509000	0.48786	0.650000	0.86243	TCA		0.473	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3		NM_033631	
LYPD2	137797	broad.mit.edu;hgsc.bcm.edu	37	8	143832568	143832568	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr8:143832568C>G	ENST00000359228.3	-	2	161	c.79G>C	c.(79-81)Gtc>Ctc	p.V27L		NM_205545.1	NP_991108.1	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2	27	UPAR/Ly6.					anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.V27L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCCGGACAGACGTAGCAGCGC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											170.0	135.0	147.0					8																	143832568		2203	4300	6503	SO:0001583	missense	137797			AY358432	CCDS6388.1	8q24.3	2005-08-30		2005-08-30	ENSG00000197353	ENSG00000197353			25215	protein-coding gene	gene with protein product				LYPDC2		12975309	Standard	NM_205545		Approved	RGTR430, UNQ430	uc003ywz.3	Q6UXB3	OTTHUMG00000164686	ENST00000359228.3:c.79G>C	8.37:g.143832568C>G	ENSP00000352163:p.Val27Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2R6|Q0VD64|Q0VF31	Missense_Mutation	SNP	ENST00000359228.3	37	CCDS6388.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419225	0.42918	.	.	ENSG00000197353	ENST00000359228	T	0.69806	-0.43	5.0	-5.46	0.02608	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);	0.705702	0.13399	N	0.390781	T	0.48114	0.1482	L	0.39245	1.2	0.09310	N	1	B	0.19817	0.039	B	0.23716	0.048	T	0.42783	-0.9431	10	0.72032	D	0.01	.	3.8716	0.09039	0.287:0.3628:0.0:0.3502	.	27	Q6UXB3	LYPD2_HUMAN	L	27	ENSP00000352163:V27L	ENSP00000352163:V27L	V	-	1	0	LYPD2	143829570	0.000000	0.05858	0.070000	0.20053	0.036000	0.12997	-1.463000	0.02361	-0.704000	0.05042	-0.459000	0.05422	GTC		0.642	LYPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379742.1		NM_205545	
MAGEC1	9947	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	140993825	140993825	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chrX:140993825G>C	ENST00000285879.4	+	4	921	c.635G>C	c.(634-636)aGt>aCt	p.S212T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	212								p.S212T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTTATTGAGTATTTTCCAG	0.502										HNSCC(15;0.026)																																							1	Substitution - Missense(1)	kidney(1)											128.0	135.0	133.0					X																	140993825		2203	4298	6501	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.635G>C	X.37:g.140993825G>C	ENSP00000285879:p.Ser212Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	1.008	-0.688882	0.03328	.	.	ENSG00000155495	ENST00000285879	T	0.02197	4.4	.	.	.	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.33961	D	0.645686	P	0.38110	0.618	B	0.25884	0.064	T	0.55566	-0.8121	8	0.87932	D	0	.	5.8503	0.18689	9.0E-4:0.0:0.9991:0.0	.	212	O60732	MAGC1_HUMAN	T	212	ENSP00000285879:S212T	ENSP00000285879:S212T	S	+	2	0	MAGEC1	140821491	0.997000	0.39634	0.193000	0.23327	0.193000	0.23685	0.039000	0.13884	0.054000	0.16065	0.054000	0.15206	AGT		0.502	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1		NM_005462	
MAML3	55534	hgsc.bcm.edu;ucsc.edu	37	4	140641167	140641167	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr4:140641167delA	ENST00000509479.2	-	5	3583	c.2727delT	c.(2725-2727)gttfs	p.V909fs	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TCACCATTCCAACCCCCTGCC	0.562																																																	0													180.0	183.0	182.0					4																	140641167		1999	4182	6181	SO:0001589	frameshift_variant	55534			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.2727delT	4.37:g.140641167delA	ENSP00000421180:p.Val909fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000509479.2	37	CCDS54805.1																																																																																				0.562	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			
MAP7D3	79649	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	135314179	135314179	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chrX:135314179C>T	ENST00000316077.9	-	8	1157	c.937G>A	c.(937-939)Gta>Ata	p.V313I	MAP7D3_ENST00000370661.1_Missense_Mutation_p.V278I|MAP7D3_ENST00000370663.5_Missense_Mutation_p.V295I	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	313					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.V610I(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TTGCAGAATACTTCCACATTC	0.547																																																	1	Substitution - Missense(1)	kidney(1)											172.0	173.0	173.0					X																	135314179		2114	4201	6315	SO:0001583	missense	79649			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.937G>A	X.37:g.135314179C>T	ENSP00000318086:p.Val313Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	0.554	-0.848003	0.02651	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	4.0	0.131	0.14755	.	.	.	.	.	T	0.03564	0.0102	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.14012	0.005;0.009;0.005;0.003	B;B;B;B	0.12837	0.004;0.008;0.002;0.004	T	0.46898	-0.9158	9	0.11794	T	0.64	0.5114	4.3233	0.11027	0.1784:0.5634:0.0:0.2582	.	295;272;313;278	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	I	278;313;295;272	ENSP00000359695:V278I;ENSP00000318086:V313I;ENSP00000359697:V295I;ENSP00000359694:V272I	ENSP00000318086:V313I	V	-	1	0	MAP7D3	135141845	0.011000	0.17503	0.000000	0.03702	0.048000	0.14542	1.943000	0.40253	-0.079000	0.12707	0.499000	0.49734	GTA		0.547	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			
MARCH10	162333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	60802312	60802312	+	Silent	SNP	C	C	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr17:60802312C>A	ENST00000311269.5	-	7	2365	c.2091G>T	c.(2089-2091)gtG>gtT	p.V697V	MARCH10_ENST00000544856.2_Silent_p.V696V|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000583600.1_Silent_p.V735V|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Silent_p.V697V	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	697					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.V697V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ATGTTATTTTCACTTTCAGCC	0.547																																																	1	Substitution - coding silent(1)	kidney(1)											141.0	143.0	142.0					17																	60802312		2203	4300	6503	SO:0001819	synonymous_variant	162333			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.2091G>T	17.37:g.60802312C>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	ENST00000311269.5	37	CCDS11635.1																																																																																				0.547	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1		NM_152598	
MCCC2	64087	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	70930789	70930789	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr5:70930789C>G	ENST00000340941.6	+	9	952	c.823C>G	c.(823-825)Cac>Gac	p.H275D	MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000509358.2_Missense_Mutation_p.H275D|MCCC2_ENST00000323375.8_Missense_Mutation_p.H237D	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	275	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.H275D(1)		endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AGTAAGTGACCACTGGGCTTT	0.373																																																	1	Substitution - Missense(1)	kidney(1)											110.0	106.0	108.0					5																	70930789		2203	4300	6503	SO:0001583	missense	64087			AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.823C>G	5.37:g.70930789C>G	ENSP00000343657:p.His275Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	ENST00000340941.6	37	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292313	0.40594	.	.	ENSG00000131844	ENST00000340941;ENST00000509358;ENST00000323375;ENST00000509539	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.65	1.7	0.24286	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.144593	0.64402	D	0.000007	D	0.98789	0.9592	H	0.97390	3.995	0.58432	D	0.999999	D;D;D	0.67145	0.995;0.996;0.973	D;D;D	0.83275	0.967;0.996;0.991	D	0.98061	1.0393	10	0.87932	D	0	-7.3144	9.9718	0.41759	0.0:0.7185:0.0:0.2815	.	275;144;275	D6RDF7;B3KR24;Q9HCC0	.;.;MCCB_HUMAN	D	275;275;237;50	ENSP00000343657:H275D;ENSP00000420994:H275D;ENSP00000327308:H237D;ENSP00000425474:H50D	ENSP00000327308:H237D	H	+	1	0	MCCC2	70966545	1.000000	0.71417	0.997000	0.53966	0.182000	0.23217	1.966000	0.40481	0.014000	0.14944	-0.214000	0.12660	CAC		0.373	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			
MCM3AP	8888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	47692476	47692476	+	Splice_Site	SNP	T	T	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr21:47692476T>A	ENST00000397708.1	-	9	2718	c.2464A>T	c.(2464-2466)Aga>Tga	p.R822*	MCM3AP_ENST00000291688.1_Splice_Site_p.R822*			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	822	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.R822*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AAAATTCACCTTAGGATGTCT	0.488																																																	1	Substitution - Nonsense(1)	kidney(1)											122.0	110.0	114.0					21																	47692476		2203	4300	6503	SO:0001630	splice_region_variant	8888			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2465+1A>T	21.37:g.47692476T>A		Somatic		WXS	Illumina HiSeq	Phase_I	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Nonsense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	T	39	7.494183	0.98319	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	.	.	.	5.59	5.59	0.84812	.	0.086330	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9855	15.7868	0.78310	0.0:0.0:0.0:1.0	.	.	.	.	X	822	.	ENSP00000291688:R822X	R	-	1	2	MCM3AP	46516904	1.000000	0.71417	0.988000	0.46212	0.268000	0.26511	6.240000	0.72363	2.140000	0.66376	0.460000	0.39030	AGA		0.488	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1		NM_003906	Nonsense_Mutation
MMP7	4316	hgsc.bcm.edu	37	11	102401379	102401380	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr11:102401379_102401380insG	ENST00000260227.4	-	1	104_105	c.52_53insC	c.(52-54)ctgfs	p.L18fs		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	18					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	AGGCAGCGGCAGGGCCAGGCTG	0.564																																																	0																																										SO:0001589	frameshift_variant	4316			Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"""matrix metalloproteinase 7 (matrilysin, uterine)"""	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.53dupC	11.37:g.102401382_102401382dupG	ENSP00000260227:p.Leu18fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BTK9	Frame_Shift_Ins	INS	ENST00000260227.4	37	CCDS8317.1																																																																																				0.564	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2			
MN1	4330	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	28192794	28192794	+	Silent	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr22:28192794C>T	ENST00000302326.4	-	1	4692	c.3738G>A	c.(3736-3738)gcG>gcA	p.A1246A		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1246					intramembranous ossification (GO:0001957)			p.A1246A(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TCTCCCAGGGCGCCAACGTCT	0.622			T	ETV6	"""AML, meningioma"""																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	1	Substitution - coding silent(1)	kidney(1)											95.0	101.0	99.0					22																	28192794		2123	4221	6344	SO:0001819	synonymous_variant	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3738G>A	22.37:g.28192794C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A9Z1V9	Silent	SNP	ENST00000302326.4	37	CCDS42998.1																																																																																				0.622	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1		NM_002430	
DPM1	8813	hgsc.bcm.edu	37	20	49575507	49575508	+	5'Flank	INS	-	-	G			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr20:49575507_49575508insG	ENST00000371588.5	-	0	0				MOCS3_ENST00000244051.1_Frame_Shift_Ins_p.V44fs|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000466152.1_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CCAGAACGGCTGGTTCCGGTGT	0.614																																																	0																																										SO:0001631	upstream_gene_variant	27304			AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49575509_49575509dupG	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	O15157|Q6IB78|Q96HK0	Frame_Shift_Ins	INS	ENST00000371588.5	37	CCDS13434.1																																																																																				0.614	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1		NM_003859	
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9076252	9076252	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr19:9076252A>T	ENST00000397910.4	-	3	11397	c.11194T>A	c.(11194-11196)Tct>Act	p.S3732T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3733	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S3732T(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGACAGAGAATCAAACAGA	0.493																																																	2	Substitution - Missense(2)	kidney(2)											128.0	127.0	127.0					19																	9076252		1985	4174	6159	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11194T>A	19.37:g.9076252A>T	ENSP00000381008:p.Ser3732Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	4.217	0.039063	0.08148	.	.	ENSG00000181143	ENST00000397910	T	0.02552	4.25	1.76	-0.461	0.12172	.	.	.	.	.	T	0.02649	0.0080	N	0.08118	0	.	.	.	D	0.55172	0.97	P	0.53146	0.719	T	0.45731	-0.9241	8	0.87932	D	0	.	4.3051	0.10942	0.663:0.0:0.337:0.0	.	3732	B5ME49	.	T	3732	ENSP00000381008:S3732T	ENSP00000381008:S3732T	S	-	1	0	MUC16	8937252	0.000000	0.05858	0.002000	0.10522	0.044000	0.14063	-0.391000	0.07323	-0.204000	0.10235	0.260000	0.18958	TCT		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
NEGR1	257194	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	72748110	72748110	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:72748110C>T	ENST00000357731.5	-	1	307	c.68G>A	c.(67-69)aGc>aAc	p.S23N	NEGR1_ENST00000434200.1_Missense_Mutation_p.S21N	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	23					feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.S23N(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GCAGCACAGGCTGAGGAGCAC	0.627																																																	1	Substitution - Missense(1)	kidney(1)											83.0	69.0	74.0					1																	72748110		2203	4300	6503	SO:0001583	missense	257194			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.68G>A	1.37:g.72748110C>T	ENSP00000350364:p.Ser23Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	CCDS661.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260309	0.59431	.	.	ENSG00000172260	ENST00000357731;ENST00000434200	T;T	0.72725	0.59;-0.68	5.25	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	N	0.19112	0.55	0.38063	D	0.936135	B;B	0.30482	0.221;0.281	B;B	0.27076	0.027;0.076	T	0.28170	-1.0052	10	0.25751	T	0.34	-6.3905	13.6553	0.62336	0.0:0.8436:0.1564:0.0	.	21;23	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	N	23;21	ENSP00000350364:S23N;ENSP00000413294:S21N	ENSP00000350364:S23N	S	-	2	0	NEGR1	72520698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.916000	0.56416	1.192000	0.43071	0.561000	0.74099	AGC		0.627	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4		NM_173808	
NLRP7	199713	broad.mit.edu;hgsc.bcm.edu	37	19	55450880	55450880	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr19:55450880T>C	ENST00000590030.1	-	3	1347	c.1307A>G	c.(1306-1308)gAa>gGa	p.E436G	NLRP7_ENST00000340844.2_Missense_Mutation_p.E436G|NLRP7_ENST00000448121.2_Missense_Mutation_p.E436G|NLRP7_ENST00000588756.1_Missense_Mutation_p.E436G|NLRP7_ENST00000592784.1_Missense_Mutation_p.E436G|NLRP7_ENST00000446217.1_Missense_Mutation_p.E464G|NLRP7_ENST00000328092.5_Missense_Mutation_p.E436G			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	436	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.E436G(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CCCGAGCCTTTCCAGGTCCTC	0.677																																																	2	Substitution - Missense(2)	kidney(2)											40.0	35.0	37.0					19																	55450880		2203	4299	6502	SO:0001583	missense	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1307A>G	19.37:g.55450880T>C	ENSP00000465520:p.Glu436Gly	Somatic		WXS	Illumina HiSeq	Phase_I	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	T	4.042	0.005414	0.07866	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.75050	-0.83;-0.83;-0.9;-0.87	2.06	-4.13	0.03904	.	3.343310	0.01252	N	0.008903	T	0.61489	0.2351	L	0.35593	1.075	0.09310	N	1	B;B;B;B	0.19583	0.022;0.022;0.022;0.037	B;B;B;B	0.22880	0.019;0.019;0.019;0.042	T	0.41627	-0.9498	10	0.40728	T	0.16	.	4.1695	0.10322	0.1661:0.2449:0.0:0.589	.	464;436;436;436	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	G	436;436;436;464;203	ENSP00000329568:E436G;ENSP00000409137:E436G;ENSP00000339491:E436G;ENSP00000414273:E464G	ENSP00000329568:E436G	E	-	2	0	NLRP7	60142692	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.772000	0.01787	-1.625000	0.01554	-0.464000	0.05259	GAA		0.677	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1		NM_139176	
NOX4	50507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	89075257	89075257	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr11:89075257A>C	ENST00000263317.4	-	14	1560	c.1322T>G	c.(1321-1323)aTa>aGa	p.I441R	NOX4_ENST00000424319.1_Missense_Mutation_p.I417R|NOX4_ENST00000527626.1_Missense_Mutation_p.I275R|NOX4_ENST00000528341.1_Missense_Mutation_p.I416R|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000375979.3_Missense_Mutation_p.I134R|NOX4_ENST00000542487.1_Missense_Mutation_p.I417R|NOX4_ENST00000535633.1_Missense_Mutation_p.I417R|NOX4_ENST00000527956.1_Missense_Mutation_p.I417R|NOX4_ENST00000532825.1_Intron|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000343727.5_Missense_Mutation_p.I417R|NOX4_ENST00000413594.2_Missense_Mutation_p.I462R|NOX4_ENST00000534731.1_Intron			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	441	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.I441R(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GGTGTTGAGTATTGATGCAAA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											90.0	82.0	85.0					11																	89075257		2201	4299	6500	SO:0001583	missense	50507			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1322T>G	11.37:g.89075257A>C	ENSP00000263317:p.Ile441Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.305008	0.81247	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000263317;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000375979	D;D;D;D;D;D;D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69	5.18	5.18	0.71444	Ferric reductase, NAD binding (1);	0.109105	0.64402	D	0.000010	D	0.97676	0.9238	M	0.86740	2.835	0.58432	D	0.999999	D;D;D;D	0.62365	0.978;0.988;0.991;0.981	P;P;P;D	0.66979	0.83;0.878;0.807;0.948	D	0.98185	1.0459	9	.	.	.	-16.0825	14.6857	0.69047	1.0:0.0:0.0:0.0	.	275;416;134;441	E9PR43;E9PPP2;Q9NPH5-4;Q9NPH5	.;.;.;NOX4_HUMAN	R	417;417;417;441;417;417;275;416;462;134	ENSP00000412446:I417R;ENSP00000440172:I417R;ENSP00000344747:I417R;ENSP00000263317:I441R;ENSP00000433797:I417R;ENSP00000439373:I417R;ENSP00000436093:I275R;ENSP00000436970:I416R;ENSP00000405705:I462R;ENSP00000365146:I134R	.	I	-	2	0	NOX4	88714905	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.578000	0.90777	1.945000	0.56424	0.379000	0.24179	ATA		0.368	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1		NM_016931	
NPPB	4879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11918438	11918438	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:11918438G>A	ENST00000376468.3	-	2	318	c.221C>T	c.(220-222)aCa>aTa	p.T74I		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	74					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|protein complex (GO:0043234)	diuretic hormone activity (GO:0008613)|hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.T74I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)	CCAGACACCTGTGGGACGGGG	0.632																																																	1	Substitution - Missense(1)	kidney(1)											31.0	34.0	33.0					1																	11918438		2203	4300	6503	SO:0001583	missense	4879			BC025785	CCDS140.1	1p36.2	2014-01-30	2010-11-09		ENSG00000120937	ENSG00000120937		"""Endogenous ligands"""	7940	protein-coding gene	gene with protein product		600295	"""natriuretic peptide precursor B"""			2597152	Standard	NM_002521		Approved		uc001atj.3	P16860	OTTHUMG00000002389	ENST00000376468.3:c.221C>T	1.37:g.11918438G>A	ENSP00000365651:p.Thr74Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B0ZBE9|Q6FGY0|Q9P2Q7	Missense_Mutation	SNP	ENST00000376468.3	37	CCDS140.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472840	0.26423	.	.	ENSG00000120937	ENST00000376468	T	0.23552	1.9	4.31	-0.575	0.11734	.	.	.	.	.	T	0.14485	0.0350	L	0.40543	1.245	0.09310	N	1	P	0.35077	0.483	B	0.27608	0.081	T	0.18053	-1.0349	9	0.41790	T	0.15	.	2.3771	0.04345	0.1063:0.1562:0.4195:0.3179	.	74	P16860	ANFB_HUMAN	I	74	ENSP00000365651:T74I	ENSP00000365651:T74I	T	-	2	0	NPPB	11841025	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.052000	0.14163	0.033000	0.15463	0.561000	0.74099	ACA		0.632	NPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006854.1		NM_002521	
OPRD1	4985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	29189406	29189406	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:29189406C>T	ENST00000234961.2	+	3	972	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	244					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)	p.R244C(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GCGCAGTGTGCGCCTGCTGTC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											88.0	69.0	76.0					1																	29189406		2203	4300	6503	SO:0001583	missense	4985			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.730C>T	1.37:g.29189406C>T	ENSP00000234961:p.Arg244Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993130	0.74703	.	.	ENSG00000116329	ENST00000234961	T	0.40225	1.04	4.54	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.058991	0.64402	D	0.000001	T	0.64103	0.2568	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.63932	-0.6525	10	0.72032	D	0.01	.	6.7912	0.23701	0.1755:0.7297:0.0:0.0949	.	244	P41143	OPRD_HUMAN	C	244	ENSP00000234961:R244C	ENSP00000234961:R244C	R	+	1	0	OPRD1	29061993	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.601000	0.82783	0.497000	0.27926	0.462000	0.41574	CGC		0.642	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1		NM_000911	
OPRM1	4988	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	154412549	154412549	+	Missense_Mutation	SNP	G	G	A	rs199984546		TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr6:154412549G>A	ENST00000330432.7	+	3	1343	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H	OPRM1_ENST00000524163.1_Missense_Mutation_p.R369H|OPRM1_ENST00000414028.2_Missense_Mutation_p.R369H|OPRM1_ENST00000337049.4_Missense_Mutation_p.R369H|OPRM1_ENST00000452687.2_Missense_Mutation_p.R369H|OPRM1_ENST00000518759.1_Missense_Mutation_p.R288H|OPRM1_ENST00000419506.2_Missense_Mutation_p.R369H|OPRM1_ENST00000434900.2_Missense_Mutation_p.R462H|OPRM1_ENST00000435918.2_Missense_Mutation_p.R369H|OPRM1_ENST00000520708.1_Missense_Mutation_p.R269H|OPRM1_ENST00000522555.1_Missense_Mutation_p.R269H|OPRM1_ENST00000360422.4_Missense_Mutation_p.R369H|OPRM1_ENST00000229768.5_Missense_Mutation_p.R369H|OPRM1_ENST00000522236.1_Missense_Mutation_p.R269H|OPRM1_ENST00000428397.2_Missense_Mutation_p.R369H	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	369					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.R369H(2)|p.R462H(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ACTCGAATTCGTCAGAACACT	0.438																																																	3	Substitution - Missense(3)	kidney(3)											54.0	53.0	54.0					6																	154412549		1915	4123	6038	SO:0001583	missense	4988			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1106G>A	6.37:g.154412549G>A	ENSP00000328264:p.Arg369His	Somatic		WXS	Illumina HiSeq	Phase_I	B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237880	0.79800	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14	6.16	6.16	0.99307	.	0.048138	0.85682	D	0.000000	T	0.57140	0.2033	M	0.76170	2.325	0.80722	D	1	D;B;B;D;P;B;B;P;B;P;P;B	0.76494	0.998;0.187;0.187;0.999;0.713;0.025;0.014;0.738;0.364;0.815;0.738;0.187	D;B;B;D;B;B;B;B;B;B;B;B	0.66716	0.909;0.118;0.118;0.946;0.211;0.013;0.009;0.19;0.055;0.22;0.19;0.118	T	0.57429	-0.7813	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	369;369;369;369;462;288;269;369;369;369;369;369	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	H	462;269;288;369;369;369;369;369;369;369;369;369;369;269;269	ENSP00000394624:R462H;ENSP00000430876:R269H;ENSP00000430260:R288H;ENSP00000328264:R369H;ENSP00000353598:R369H;ENSP00000411903:R369H;ENSP00000410497:R369H;ENSP00000229768:R369H;ENSP00000403549:R369H;ENSP00000430097:R369H;ENSP00000399359:R369H;ENSP00000413752:R369H;ENSP00000338381:R369H;ENSP00000429719:R269H;ENSP00000429373:R269H	ENSP00000229768:R369H	R	+	2	0	OPRM1	154454242	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	CGT		0.438	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2		NM_000914	
PANK2	80025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	3899360	3899360	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr20:3899360A>C	ENST00000316562.4	+	6	1585	c.1579A>C	c.(1579-1581)Aat>Cat	p.N527H	PANK2_ENST00000497424.1_Missense_Mutation_p.N236H|MIR103A2_ENST00000362154.1_RNA|PANK2_ENST00000610179.1_Missense_Mutation_p.N404H	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	527					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.N527H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTGAGAATTAATACGATCGC	0.378																																																	1	Substitution - Missense(1)	kidney(1)											172.0	174.0	173.0					20																	3899360		2203	4300	6503	SO:0001583	missense	80025			AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1579A>C	20.37:g.3899360A>C	ENSP00000313377:p.Asn527His	Somatic		WXS	Illumina HiSeq	Phase_I	B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	ENST00000316562.4	37	CCDS13071.2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.062927	0.76187	.	.	ENSG00000125779	ENST00000497424;ENST00000316562;ENST00000399552	D;D	0.99494	-6.01;-6.01	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.98102	0.9374	N	0.25825	0.765	0.54753	D	0.999984	P	0.41475	0.751	P	0.48677	0.586	D	0.98818	1.0746	10	0.13108	T	0.6	.	12.9199	0.58226	1.0:0.0:0.0:0.0	.	527	Q9BZ23	PANK2_HUMAN	H	236;527;343	ENSP00000417609:N236H;ENSP00000313377:N527H	ENSP00000313377:N527H	N	+	1	0	PANK2	3847360	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.107000	0.94261	2.148000	0.66965	0.533000	0.62120	AAT		0.378	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2		NM_024960	
PAK7	57144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	9520140	9520140	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr20:9520140A>T	ENST00000378429.3	-	11	2675	c.2129T>A	c.(2128-2130)gTc>gAc	p.V710D	PAK7_ENST00000378423.1_Missense_Mutation_p.V710D|PAK7_ENST00000353224.5_Missense_Mutation_p.V710D	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	710					apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V710D(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CATGAGGGGGACGATGCAAGA	0.493																																																	1	Substitution - Missense(1)	kidney(1)											237.0	218.0	224.0					20																	9520140		2203	4300	6503	SO:0001583	missense	57144			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.2129T>A	20.37:g.9520140A>T	ENSP00000367686:p.Val710Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.885211	0.91814	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.75260	-0.92;-0.92;-0.92	5.48	5.48	0.80851	.	0.054780	0.64402	D	0.000001	T	0.75997	0.3926	L	0.57536	1.79	0.80722	D	1	D;D	0.58970	0.984;0.984	P;P	0.48166	0.569;0.569	T	0.76605	-0.2898	9	.	.	.	.	15.5739	0.76359	1.0:0.0:0.0:0.0	.	710;710	B0AZM9;Q9P286	.;PAK7_HUMAN	D	710;710;710;571	ENSP00000367686:V710D;ENSP00000322957:V710D;ENSP00000367679:V710D	.	V	-	2	0	PAK7	9468140	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.339000	0.96797	2.099000	0.63709	0.533000	0.62120	GTC		0.493	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52643348	52643348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr3:52643348G>A	ENST00000296302.7	-	16	2549	c.2548C>T	c.(2548-2550)Cga>Tga	p.R850*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R850*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R850*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R818*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R865*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R850*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R850*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R865*			Q86U86	PB1_HUMAN	polybromo 1	850	Bromo 6. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R850*(4)|p.R818*(2)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTTCTTGCTCGTTCCAATACT	0.333			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	6	Substitution - Nonsense(6)	kidney(6)											65.0	65.0	65.0					3																	52643348		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2548C>T	3.37:g.52643348G>A	ENSP00000296302:p.Arg850*	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	39	7.754433	0.98471	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	6.08	3.64	0.41730	.	0.042238	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.3202	14.3827	0.66921	0.0:0.0:0.495:0.5049	.	.	.	.	X	818;850;850;850;850;850;865;865;850;809	.	ENSP00000296302:R850X	R	-	1	2	PBRM1	52618388	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.755000	0.47540	0.509000	0.28195	-0.266000	0.10368	CGA		0.333	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PDHA2	5161	hgsc.bcm.edu	37	4	96761930	96761949	+	Frame_Shift_Del	DEL	CTTTATGGAAATTACCTTGT	CTTTATGGAAATTACCTTGT	-	rs74554473		TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	CTTTATGGAAATTACCTTGT	CTTTATGGAAATTACCTTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr4:96761930_96761949delCTTTATGGAAATTACCTTGT	ENST00000295266.4	+	1	692_711	c.629_648delCTTTATGGAAATTACCTTGT	c.(628-648)gctttatggaaattaccttgtfs	p.ALWKLPC210fs		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	210					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AATATGGCAGCTTTATGGAAATTACCTTGTGTTTTCATCT	0.445																																																	0																																										SO:0001589	frameshift_variant	5161				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.629_648delCTTTATGGAAATTACCTTGT	4.37:g.96761930_96761949delCTTTATGGAAATTACCTTGT	ENSP00000295266:p.Ala210fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Frame_Shift_Del	DEL	ENST00000295266.4	37	CCDS3644.1																																																																																				0.445	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			
PCDH10	57575	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	134071517	134071517	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr4:134071517C>A	ENST00000264360.5	+	1	1048	c.222C>A	c.(220-222)taC>taA	p.Y74*	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	74	Cadherin 1. {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)	p.Y74*(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGGTGCTGTACGTGAACGAGA	0.547																																																	1	Substitution - Nonsense(1)	kidney(1)											81.0	87.0	85.0					4																	134071517		2203	4300	6503	SO:0001587	stop_gained	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.222C>A	4.37:g.134071517C>A	ENSP00000264360:p.Tyr74*	Somatic		WXS	Illumina HiSeq	Phase_I	Q4W5F6|Q96SF0	Nonsense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	43	10.048889	0.99325	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	.	.	.	4.66	1.81	0.25067	.	0.000000	0.41001	D	0.000974	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	9.8178	0.40862	0.0:0.7763:0.0:0.2237	.	.	.	.	X	74	.	ENSP00000264360:Y74X	Y	+	3	2	PCDH10	134290967	0.946000	0.32159	1.000000	0.80357	0.978000	0.69477	0.109000	0.15417	0.517000	0.28361	0.555000	0.69702	TAC		0.547	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2		NM_032961	
PRPF3	9129	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	150310685	150310685	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:150310685C>G	ENST00000324862.6	+	8	1250	c.1085C>G	c.(1084-1086)aCa>aGa	p.T362R	PRPF3_ENST00000414970.2_Missense_Mutation_p.T313R|PRPF3_ENST00000543398.1_Missense_Mutation_p.T227R|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	362					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.T362R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GCTCGAAAAACAGGCATCCAT	0.418																																					Ovarian(168;1070 2670 5178 20729)												1	Substitution - Missense(1)	kidney(1)											126.0	115.0	119.0					1																	150310685		2203	4300	6503	SO:0001583	missense	9129			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1085C>G	1.37:g.150310685C>G	ENSP00000315379:p.Thr362Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	CCDS951.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928547	0.92389	.	.	ENSG00000117360	ENST00000324862;ENST00000414970;ENST00000543398	D;D;D	0.85861	-2.04;-2.04;-2.04	6.07	6.07	0.98685	Pre-mRNA-splicing factor 3 (1);	0.043260	0.85682	D	0.000000	D	0.92309	0.7560	M	0.80508	2.5	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.75020	0.985;0.979	D	0.91319	0.5080	10	0.56958	D	0.05	-11.6329	20.6439	0.99570	0.0:1.0:0.0:0.0	.	313;362	E7EVD1;O43395	.;PRPF3_HUMAN	R	362;313;227	ENSP00000315379:T362R;ENSP00000387844:T313R;ENSP00000445421:T227R	ENSP00000315379:T362R	T	+	2	0	PRPF3	148577309	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	7.521000	0.81832	2.890000	0.99128	0.650000	0.86243	ACA		0.418	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1		NM_004698	
PRUNE2	158471	hgsc.bcm.edu	37	9	79324135	79324136	+	In_Frame_Ins	INS	-	-	TGACTGTTGCAG	rs2307907|rs11267622	byFrequency	TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr9:79324135_79324136insTGACTGTTGCAG	ENST00000376718.3	-	8	3177_3178	c.3054_3055insCTGCAACAGTCA	c.(3052-3057)tcatct>tcaCTGCAACAGTCAtct	p.1017_1018insSLQQ	PRUNE2_ENST00000428286.1_In_Frame_Ins_p.658_659insSLQQ	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1017					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGATTTCGAGATGACTGTTGCA	0.45														2520	0.503195	0.3427	0.6441	5008	,	,		23395	0.4504		0.5984	False		,,,				2504	0.5767																0										1304,2110		277,750,680						1.3	0.0		dbSNP_120	98	4176,2922		1294,1588,667	no	coding	PRUNE2	NM_015225.2		1571,2338,1347	A1A1,A1R,RR		41.1665,38.1957,47.8691				5480,5032				SO:0001652	inframe_insertion	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3043_3054dupCTGCAACAGTCA	9.37:g.79324135_79324136insTGACTGTTGCAG	ENSP00000365908:p.Ser1014_Gln1017dup	Somatic		WXS	Illumina HiSeq	Phase_I	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	In_Frame_Ins	INS	ENST00000376718.3	37	CCDS47982.1																																																																																				0.450	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2		NM_138818	
RANBP2	5903	broad.mit.edu;hgsc.bcm.edu	37	2	109365421	109365421	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr2:109365421A>C	ENST00000283195.6	+	9	1235	c.1109A>C	c.(1108-1110)aAa>aCa	p.K370T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	370					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.K370T(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GATTTTTTAAAAGAGATTGTT	0.343																																																	2	Substitution - Missense(2)	kidney(2)											213.0	224.0	220.0					2																	109365421		2203	4300	6503	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1109A>C	2.37:g.109365421A>C	ENSP00000283195:p.Lys370Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	a	6.732	0.503840	0.12822	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.29142	1.58	5.53	3.14	0.36123	.	.	.	.	.	T	0.27489	0.0675	L	0.57536	1.79	0.19775	N	0.999951	P	0.43094	0.799	B	0.35859	0.212	T	0.10520	-1.0626	9	0.66056	D	0.02	-16.8491	9.1092	0.36716	0.7265:0.0:0.2735:0.0	.	370	P49792	RBP2_HUMAN	T	370	ENSP00000283195:K370T	ENSP00000283195:K370T	K	+	2	0	RANBP2	108731853	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	1.742000	0.38248	0.468000	0.27243	-1.011000	0.02470	AAA		0.343	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1		NM_006267	
RBMXL2	27288	hgsc.bcm.edu	37	11	7110548	7110548	+	Missense_Mutation	SNP	C	C	T	rs11041170	byFrequency	TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr11:7110548C>T	ENST00000306904.5	+	1	384	c.197C>T	c.(196-198)gCc>gTc	p.A66V		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	66	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.		A -> V (in dbSNP:rs11041170). {ECO:0000269|PubMed:10958650}.			nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGGCCGCCGCCAGAGACATG	0.647													C|||	759	0.151558	0.2337	0.1628	5008	,	,		9247	0.0139		0.2316	False		,,,				2504	0.092																0								C	VAL/ALA	998,3396		105,788,1304	22.0	21.0	21.0		197	-0.5	1.0	11	dbSNP_120	21	1993,6599		240,1513,2543	no	missense	RBMXL2	NM_014469.4	64	345,2301,3847	TT,TC,CC		23.196,22.7128,23.0325	benign	66/393	7110548	2991,9995	2197	4296	6493	SO:0001583	missense	27288			AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.197C>T	11.37:g.7110548C>T	ENSP00000304139:p.Ala66Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	CCDS7777.1	364	0.16666666666666666	119	0.241869918699187	62	0.1712707182320442	11	0.019230769230769232	172	0.22691292875989447	C	10.62	1.401357	0.25291	0.227128	0.23196	ENSG00000170748	ENST00000306904	T	0.13778	2.56	2.51	-0.49	0.12049	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.068562	0.64402	N	0.000014	T	0.00012	0.0000	N	0.00707	-1.245	0.29091	P	0.882081	B	0.06786	0.001	B	0.13407	0.009	T	0.46076	-0.9217	9	0.36615	T	0.2	.	6.1131	0.20112	0.0:0.4557:0.0:0.5443	rs11041170	66	O75526	HNRGT_HUMAN	V	66	ENSP00000304139:A66V	ENSP00000304139:A66V	A	+	2	0	RBMXL2	7067124	0.996000	0.38824	0.978000	0.43139	0.984000	0.73092	1.429000	0.34903	-0.131000	0.11578	-0.463000	0.05309	GCC		0.647	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1		NM_014469	
RIOK3	8780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	21059323	21059323	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr18:21059323G>A	ENST00000339486.3	+	12	2004	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	RIOK3_ENST00000581585.1_Missense_Mutation_p.E447K|RIOK3_ENST00000577501.1_Missense_Mutation_p.E460K	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	463	Protein kinase.				chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E463K(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TAGTGAACGAGAACTCTTCAA	0.373																																																	1	Substitution - Missense(1)	kidney(1)											119.0	107.0	111.0					18																	21059323		2203	4300	6503	SO:0001583	missense	8780			AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.1387G>A	18.37:g.21059323G>A	ENSP00000341874:p.Glu463Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IXN9	Missense_Mutation	SNP	ENST00000339486.3	37	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158355	0.57368	.	.	ENSG00000101782	ENST00000339486	T	0.08008	3.14	5.75	4.88	0.63580	RIO kinase (1);Protein kinase-like domain (1);	0.151580	0.64402	D	0.000020	T	0.16428	0.0395	M	0.77486	2.375	0.80722	D	1	P;B;B;B	0.37548	0.599;0.003;0.01;0.006	B;B;B;B	0.37833	0.259;0.02;0.021;0.029	T	0.01869	-1.1257	10	0.87932	D	0	-14.5628	16.9176	0.86155	0.0:0.128:0.872:0.0	.	207;447;460;463	E7ESK5;B4E1Q4;O14730-2;O14730	.;.;.;RIOK3_HUMAN	K	463	ENSP00000341874:E463K	ENSP00000341874:E463K	E	+	1	0	RIOK3	19313321	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.787000	0.85759	1.428000	0.47296	0.551000	0.68910	GAA		0.373	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1		NM_003831	
RYR3	6263	broad.mit.edu	37	15	34113725	34113725	+	Splice_Site	SNP	T	T	G			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr15:34113725T>G	ENST00000389232.4	+	80	10987	c.10917T>G	c.(10915-10917)ggT>ggG	p.G3639G	RYR3_ENST00000415757.3_Splice_Site_p.G3634G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3639					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.G3638G(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATGGCAGGTGAGATGAGCC	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											74.0	77.0	76.0					15																	34113725		2082	4218	6300	SO:0001630	splice_region_variant	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10916-1T>G	15.37:g.34113725T>G		Somatic		WXS	Illumina GAIIx	Phase_I	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																				0.517	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			Silent
RPAP1	26015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	41813028	41813028	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr15:41813028C>T	ENST00000304330.4	-	22	3472	c.3356G>A	c.(3355-3357)gGa>gAa	p.G1119E	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1119	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.G1119E(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGGAGAGAGTCCCGAGGGGGT	0.662																																																	1	Substitution - Missense(1)	kidney(1)											36.0	36.0	36.0					15																	41813028		2203	4300	6503	SO:0001583	missense	26015			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.3356G>A	15.37:g.41813028C>T	ENSP00000306123:p.Gly1119Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.965352	0.00461	.	.	ENSG00000103932	ENST00000304330	T	0.68181	-0.31	5.31	3.27	0.37495	.	0.402146	0.29884	N	0.010956	T	0.43299	0.1241	N	0.14661	0.345	0.25210	N	0.989986	B	0.02656	0.0	B	0.04013	0.001	T	0.32188	-0.9916	10	0.87932	D	0	-10.3781	3.3013	0.06984	0.0:0.482:0.2097:0.3083	.	1119	Q9BWH6	RPAP1_HUMAN	E	1119	ENSP00000306123:G1119E	ENSP00000306123:G1119E	G	-	2	0	RPAP1	39600320	0.493000	0.26035	0.017000	0.16124	0.047000	0.14425	2.889000	0.48601	1.446000	0.47643	0.563000	0.77884	GGA		0.662	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2		NM_015540	
SAMD9	54809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	92731889	92731889	+	Silent	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr7:92731889C>T	ENST00000379958.2	-	3	3791	c.3522G>A	c.(3520-3522)gaG>gaA	p.E1174E		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1174						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.E1174E(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCACTTCATACTCTCTATCTT	0.378																																																	1	Substitution - coding silent(1)	kidney(1)											222.0	223.0	222.0					7																	92731889		2203	4300	6503	SO:0001819	synonymous_variant	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3522G>A	7.37:g.92731889C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	CCDS34680.1																																																																																				0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1		NM_017654	
SFXN1	94081	hgsc.bcm.edu;ucsc.edu	37	5	174940584	174940584	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr5:174940584C>T	ENST00000321442.5	+	7	969	c.715C>T	c.(715-717)Cct>Tct	p.P239S		NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	239					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CATGGCAGCCCCTGGCATGGG	0.512																																																	0													87.0	80.0	83.0					5																	174940584		2203	4300	6503	SO:0001583	missense	94081			AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"""Sideroflexins"""	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.715C>T	5.37:g.174940584C>T	ENSP00000316905:p.Pro239Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B3KPW3|D3DQN2|Q9HA53	Missense_Mutation	SNP	ENST00000321442.5	37	CCDS4394.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003003	0.93287	.	.	ENSG00000164466	ENST00000321442	T	0.63096	-0.02	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.86360	0.5914	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91202	0.4992	10	0.87932	D	0	-18.9499	17.5333	0.87820	0.0:1.0:0.0:0.0	.	239	Q9H9B4	SFXN1_HUMAN	S	239	ENSP00000316905:P239S	ENSP00000316905:P239S	P	+	1	0	SFXN1	174873190	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.572000	0.82409	2.434000	0.82447	0.462000	0.41574	CCT		0.512	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2		NM_022754	
SLFN5	162394	broad.mit.edu;hgsc.bcm.edu	37	17	33585670	33585670	+	5'UTR	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr17:33585670G>A	ENST00000299977.4	+	0	109				SLFN5_ENST00000592325.1_5'UTR|SLFN5_ENST00000542451.1_5'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5						cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TGTTTTTCAGGAGAACATTTC	0.418																																																	0													41.0	42.0	41.0					17																	33585670		2203	4299	6502	SO:0001623	5_prime_UTR_variant	162394			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.-40G>A	17.37:g.33585670G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q08AF2|Q8WU54|Q96A82	Splice_Site	SNP	ENST00000299977.4	37	CCDS32619.1																																																																																				0.418	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2		NM_144975	
SMC2	10592	broad.mit.edu;hgsc.bcm.edu	37	9	106877025	106877025	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr9:106877025T>C	ENST00000286398.7	+	13	1874	c.1586T>C	c.(1585-1587)cTg>cCg	p.L529P	SMC2_ENST00000374787.3_Missense_Mutation_p.L529P|SMC2_ENST00000303219.8_Missense_Mutation_p.L529P|SMC2_ENST00000374793.3_Missense_Mutation_p.L529P	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	529	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.L529P(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GTGGCTTCTCTGATTAGTGTG	0.353																																																	2	Substitution - Missense(2)	kidney(2)											97.0	97.0	97.0					9																	106877025		2203	4300	6503	SO:0001583	missense	10592			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1586T>C	9.37:g.106877025T>C	ENSP00000286398:p.Leu529Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.409195	0.83340	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.45	5.45	0.79879	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.069788	0.64402	D	0.000020	D	0.97037	0.9032	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98266	1.0501	10	0.87932	D	0	-7.1109	14.4917	0.67654	0.0:0.0:0.0:1.0	.	529;529	O95347;Q2KQ72	SMC2_HUMAN;.	P	529	ENSP00000286398:L529P;ENSP00000363925:L529P;ENSP00000306152:L529P;ENSP00000363919:L529P	ENSP00000286398:L529P	L	+	2	0	SMC2	105916846	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.771000	0.68881	2.288000	0.76882	0.533000	0.62120	CTG		0.353	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			
SMOX	54498	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	4164251	4164251	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr20:4164251G>A	ENST00000305958.4	+	6	1705	c.1480G>A	c.(1480-1482)Gtg>Atg	p.V494M	SMOX_ENST00000379460.2_Missense_Mutation_p.V494M|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Missense_Mutation_p.V441M|SMOX_ENST00000339123.6_Missense_Mutation_p.V441M	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	494					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.V441M(1)|p.V494M(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	CGGGGCGGATGTGGAGAAGCT	0.597																																																	2	Substitution - Missense(2)	kidney(2)											38.0	42.0	41.0					20																	4164251		2203	4300	6503	SO:0001583	missense	54498			AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1480G>A	20.37:g.4164251G>A	ENSP00000307252:p.Val494Met	Somatic		WXS	Illumina HiSeq	Phase_I	A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061077	0.36373	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000379460;ENST00000457205	D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08	5.22	5.22	0.72569	Amine oxidase (1);	0.213068	0.38111	N	0.001816	D	0.90556	0.7040	N	0.21142	0.635	0.48135	D	0.999593	B;D;B;P;P	0.53151	0.295;0.958;0.093;0.941;0.771	B;P;B;P;P	0.53809	0.22;0.724;0.235;0.735;0.632	D	0.90473	0.4454	10	0.39692	T	0.17	-16.5482	16.284	0.82710	0.0:0.0:1.0:0.0	.	418;494;494;441;441	B4DE63;Q9NWM0-6;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;SMOX_HUMAN;.;.	M	441;494;441;494;351	ENSP00000344595:V441M;ENSP00000307252:V494M;ENSP00000278795:V441M;ENSP00000368773:V494M;ENSP00000407269:V351M	ENSP00000278795:V441M	V	+	1	0	SMOX	4112251	1.000000	0.71417	0.949000	0.38748	0.727000	0.41649	5.359000	0.66074	2.435000	0.82474	0.655000	0.94253	GTG		0.597	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1		NM_175842	
SYK	6850	broad.mit.edu;ucsc.edu	37	9	93624627	93624627	+	Splice_Site	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr9:93624627G>A	ENST00000375754.4	+	4	865		c.e4+1		SYK_ENST00000375746.1_Splice_Site|SYK_ENST00000375751.4_Splice_Site|SYK_ENST00000375747.1_Splice_Site	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase						activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.?(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GCTCTGGCAGGTACCCAGCCT	0.582			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																			Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	2	Unknown(2)	kidney(2)											81.0	71.0	74.0					9																	93624627		2203	4300	6503	SO:0001630	splice_region_variant	6850			L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.717+1G>A	9.37:g.93624627G>A		Somatic		WXS	Illumina GAIIx	Phase_I		Splice_Site	SNP	ENST00000375754.4	37	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017381	0.75161	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9994	0.86378	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYK	92664448	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	8.643000	0.91040	2.555000	0.86185	0.643000	0.83706	.		0.582	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			Intron
SYNCRIP	10492	broad.mit.edu;hgsc.bcm.edu	37	6	86324828	86324828	+	Silent	SNP	A	A	G			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr6:86324828A>G	ENST00000369622.3	-	11	2018	c.1518T>C	c.(1516-1518)gcT>gcC	p.A506A	RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.L42P|SYNCRIP_ENST00000355238.6_Silent_p.A506A	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	506	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A506A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TGGATGGAGCAGCACCCCTTG	0.532																																																	1	Substitution - coding silent(1)	kidney(1)											70.0	67.0	68.0					6																	86324828		2203	4300	6503	SO:0001819	synonymous_variant	10492			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1518T>C	6.37:g.86324828A>G		Somatic		WXS	Illumina HiSeq	Phase_I	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Silent	SNP	ENST00000369622.3	37	CCDS5005.1																																																																																				0.532	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1		NM_006372	
TET3	200424	hgsc.bcm.edu;ucsc.edu	37	2	74328262	74328263	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr2:74328262_74328263insA	ENST00000409262.3	+	9	3942_3943	c.3942_3943insA	c.(3943-3945)aacfs	p.N1315fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1315					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAAGAGGACTAACGGTGTGGG	0.604																																																	0																																										SO:0001589	frameshift_variant	200424				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.3944dupA	2.37:g.74328264_74328264dupA	ENSP00000386869:p.Asn1315fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NEI3|Q86Z24|Q8TBM9	Frame_Shift_Ins	INS	ENST00000409262.3	37	CCDS46339.1																																																																																				0.604	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			
TOX3	27324	hgsc.bcm.edu	37	16	52478206	52478206	+	Silent	SNP	C	C	T	rs3743796	byFrequency	TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr16:52478206C>T	ENST00000219746.9	-	6	1253	c.969G>A	c.(967-969)agG>agA	p.R323R	TOX3_ENST00000407228.3_Silent_p.R318R	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	323					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)	p.R323R(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CGAGGCTGGCCCTGTATGCCG	0.468													C|||	506	0.101038	0.0522	0.0749	5008	,	,		15347	0.1488		0.0984	False		,,,				2504	0.1391																1	Substitution - coding silent(1)	stomach(1)						C	,	206,3442		5,196,1623	46.0	45.0	45.0		969,954	3.0	1.0	16	dbSNP_107	45	614,7562		26,562,3500	no	coding-synonymous,coding-synonymous	TOX3	NM_001080430.2,NM_001146188.1	,	31,758,5123	TT,TC,CC		7.5098,5.6469,6.935	,	323/577,318/572	52478206	820,11004	1824	4088	5912	SO:0001819	synonymous_variant	27324			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.969G>A	16.37:g.52478206C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DRD0|B5MCW4	Silent	SNP	ENST00000219746.9	37	CCDS54009.1																																																																																				0.468	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1		XM_049037	
TOX3	27324	hgsc.bcm.edu	37	16	52478215	52478215	+	Silent	SNP	C	C	T	rs3743797	byFrequency	TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr16:52478215C>T	ENST00000219746.9	-	6	1244	c.960G>A	c.(958-960)gcG>gcA	p.A320A	TOX3_ENST00000407228.3_Silent_p.A315A	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	320					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)	p.A320A(2)|p.A315A(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CCCTGTATGCCGCCAGGGCCT	0.463													C|||	506	0.101038	0.0522	0.0749	5008	,	,		15360	0.1488		0.0984	False		,,,				2504	0.1391																3	Substitution - coding silent(3)	prostate(2)|stomach(1)						C	,	208,3428		4,200,1614	49.0	47.0	48.0		960,945	-5.3	0.6	16	dbSNP_107	48	623,7555		26,571,3492	yes	coding-synonymous,coding-synonymous	TOX3	NM_001080430.2,NM_001146188.1	,	30,771,5106	TT,TC,CC		7.618,5.7206,7.034	,	320/577,315/572	52478215	831,10983	1818	4089	5907	SO:0001819	synonymous_variant	27324			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.960G>A	16.37:g.52478215C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DRD0|B5MCW4	Silent	SNP	ENST00000219746.9	37	CCDS54009.1																																																																																				0.463	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1		XM_049037	
THAP11	57215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67877045	67877045	+	Silent	SNP	T	T	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr16:67877045T>C	ENST00000303596.1	+	1	833	c.588T>C	c.(586-588)ttT>ttC	p.F196F	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.F196F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		AAGTGGAGTTTGCAGCCGCAG	0.662																																																	1	Substitution - coding silent(1)	kidney(1)											53.0	65.0	61.0					16																	67877045		2197	4300	6497	SO:0001819	synonymous_variant	57215			AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.588T>C	16.37:g.67877045T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	CCDS10847.1																																																																																				0.662	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1		NM_020457	
WDR63	126820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	85546974	85546974	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:85546974G>A	ENST00000294664.6	+	4	341	c.161G>A	c.(160-162)tGc>tAc	p.C54Y	WDR63_ENST00000326813.8_Missense_Mutation_p.C54Y|WDR63_ENST00000370596.1_Missense_Mutation_p.C54Y	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	54								p.C54Y(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATATTTAACTGCCGAATAGAT	0.363																																																	1	Substitution - Missense(1)	kidney(1)											108.0	107.0	107.0					1																	85546974		2203	4300	6503	SO:0001583	missense	126820				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.161G>A	1.37:g.85546974G>A	ENSP00000294664:p.Cys54Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919629	0.73098	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000528899	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.84	4.91	0.64330	.	0.088427	0.85682	D	0.000000	T	0.64193	0.2576	M	0.83012	2.62	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.72567	-0.4254	10	0.87932	D	0	-5.2247	15.0757	0.72074	0.0:0.0:0.7425:0.2575	.	54;54	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	Y	54;54;54;41	ENSP00000359628:C54Y;ENSP00000317463:C54Y;ENSP00000294664:C54Y;ENSP00000435102:C41Y	ENSP00000294664:C54Y	C	+	2	0	WDR63	85319562	1.000000	0.71417	0.992000	0.48379	0.928000	0.56348	6.096000	0.71446	1.415000	0.47037	0.650000	0.86243	TGC		0.363	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2		NM_145172	
ZNF112	7771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44833609	44833609	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr19:44833609A>G	ENST00000337401.4	-	5	807	c.719T>C	c.(718-720)aTc>aCc	p.I240T	ZNF112_ENST00000354340.4_Missense_Mutation_p.I234T|ZNF112_ENST00000536500.1_Missense_Mutation_p.I257T	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I234T(1)|p.I240T(1)									TACCTTCATGATATCTTCTCC	0.408																																																	2	Substitution - Missense(2)	kidney(2)											117.0	115.0	116.0					19																	44833609		2203	4300	6503	SO:0001583	missense	7771			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.719T>C	19.37:g.44833609A>G	ENSP00000337081:p.Ile240Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	A	4.564	0.104780	0.08731	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.05786	3.39;3.4;3.4	4.85	-3.02	0.05446	.	0.481213	0.15374	N	0.265715	T	0.04998	0.0134	L	0.29908	0.895	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.27262	-1.0079	10	0.59425	D	0.04	2.7364	11.7994	0.52118	0.4905:0.0:0.5095:0.0	.	239;257;240	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	T	240;240;234;257;239	ENSP00000337081:I240T;ENSP00000346305:I234T;ENSP00000441990:I257T	ENSP00000253426:I239T	I	-	2	0	ZNF285	49525449	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.515000	0.06290	-0.795000	0.04462	-0.379000	0.06801	ATC		0.408	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1		NM_013380	
ZNF532	55205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	56587466	56587466	+	Silent	SNP	T	T	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr18:56587466T>C	ENST00000336078.4	+	4	2723	c.1947T>C	c.(1945-1947)tgT>tgC	p.C649C	ZNF532_ENST00000591230.1_Silent_p.C649C|ZNF532_ENST00000591808.1_Silent_p.C649C|ZNF532_ENST00000591083.1_Silent_p.C649C|ZNF532_ENST00000589288.1_Silent_p.C649C	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	649					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C649C(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GCAACCATTGTACAAAGAACC	0.483																																																	1	Substitution - coding silent(1)	kidney(1)											80.0	66.0	71.0					18																	56587466		2203	4300	6503	SO:0001819	synonymous_variant	55205			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1947T>C	18.37:g.56587466T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	CCDS11969.1																																																																																				0.483	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1		NM_018181	
ZNF672	79894	broad.mit.edu;hgsc.bcm.edu	37	1	249142695	249142695	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:249142695C>A	ENST00000306562.3	+	4	1968	c.1222C>A	c.(1222-1224)Cgc>Agc	p.R408S		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R408S(1)		endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CAGCCACAGCCGCTCGCTGTC	0.697																																																	1	Substitution - Missense(1)	kidney(1)											12.0	12.0	12.0					1																	249142695		2169	4244	6413	SO:0001583	missense	79894			AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.1222C>A	1.37:g.249142695C>A	ENSP00000421915:p.Arg408Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	ENST00000306562.3	37	CCDS1638.1	.	.	.	.	.	.	.	.	.	.	C	8.027	0.760949	0.15914	.	.	ENSG00000171161	ENST00000306562	T	0.07114	3.22	3.83	0.806	0.18708	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31392	U	0.007731	T	0.04137	0.0115	N	0.24115	0.695	0.22989	N	0.998465	B	0.23377	0.084	B	0.18263	0.021	T	0.39418	-0.9615	9	.	.	.	.	2.9954	0.05996	0.194:0.4817:0.0:0.3243	.	408	Q499Z4	ZN672_HUMAN	S	408	ENSP00000421915:R408S	.	R	+	1	0	ZNF672	247109318	0.000000	0.05858	0.767000	0.31495	0.931000	0.56810	-2.315000	0.01124	0.070000	0.16634	0.561000	0.74099	CGC		0.697	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2		NM_024836	
