#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_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_default_gene_name	i_deletion_substructures	i_domain	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_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABI3BP	25890	genome.wustl.edu	37	3	100541493	100541493	+	Intron	SNP	G	G	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:100541493G>T	ENST00000284322.5	-	19	1707				ABI3BP_ENST00000383691.4_Missense_Mutation_p.R227S|ABI3BP_ENST00000495063.1_Missense_Mutation_p.R863S|ABI3BP_ENST00000471714.1_Missense_Mutation_p.R950S	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CGTGGACGACGTGTCCGTTGT	0.438																																																	0																																										SO:0001627	intron_variant	25890			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1598-14414C>A	3.37:g.100541493G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.R227S	ENST00000284322.5	37	c.679	CCDS46880.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.368|9.368	1.069682|1.069682	0.20147|0.20147	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000495591;ENST00000471901|ENST00000471714;ENST00000383692;ENST00000383691;ENST00000495063	.|T;T;T	.|0.21932	.|1.98;1.98;1.98	4.23|4.23	-2.63|-2.63	0.06133|0.06133	.|.	.|.	.|.	.|.	.|.	T|T	0.06096|0.06096	0.0158|0.0158	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.10296	.|0.001;0.003;0.001;0.001	.|B;B;B;B	.|0.04013	.|0.0;0.001;0.0;0.0	T|T	0.37079|0.37079	-0.9721|-0.9721	4|8	.|0.07030	.|T	.|0.85	.|.	1.0677|1.0677	0.01615|0.01615	0.1797:0.1449:0.314:0.3615|0.1797:0.1449:0.314:0.3615	.|.	.|227;863;950;197	.|B4DSV9;Q5JPC9;D3YTG3;D3YTD6	.|.;.;.;.	Q|S	328;72|950;197;227;863	.|ENSP00000420524:R950S;ENSP00000373189:R227S;ENSP00000433993:R863S	.|ENSP00000373189:R227S	H|R	-|-	3|1	2|0	ABI3BP|ABI3BP	102024183|102024183	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.970000|0.970000	0.65996|0.65996	-1.410000|-1.410000	0.02480|0.02480	-0.542000|-0.542000	0.06249|0.06249	0.591000|0.591000	0.81541|0.81541	CAC|CGT	ABI3BP	-	NULL		0.438	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI3BP	HGNC	protein_coding	OTTHUMT00000353260.1	G			100541493	-1	no_errors	ENST00000383691	ensembl	human	known	70_37	missense	SNP	0.000	T
ACACB	32	genome.wustl.edu	37	12	109577475	109577475	+	Missense_Mutation	SNP	A	A	G			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr12:109577475A>G	ENST00000338432.7	+	2	384	c.265A>G	c.(265-267)Aga>Gga	p.R89G	ACACB_ENST00000377854.5_Missense_Mutation_p.R89G|ACACB_ENST00000377848.3_Missense_Mutation_p.R89G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	89					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CGGTCGGCGGAGAAACTCCCT	0.637																																																	0													59.0	69.0	65.0					12																	109577475		2203	4300	6503	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.265A>G	12.37:g.109577475A>G	ENSP00000341044:p.Arg89Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.R89G	ENST00000338432.7	37	c.265	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	A	16.56	3.158487	0.57368	.	.	ENSG00000076555	ENST00000338432;ENST00000539864;ENST00000377848;ENST00000377854	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.72	2.2	0.27929	.	0.365586	0.24231	N	0.040348	T	0.39306	0.1073	L	0.44542	1.39	0.09310	N	1	B	0.17038	0.02	B	0.17433	0.018	T	0.20338	-1.0278	10	0.33141	T	0.24	.	6.7374	0.23417	0.7514:0.0:0.2486:0.0	.	89	O00763	ACACB_HUMAN	G	89;64;89;89	ENSP00000341044:R89G;ENSP00000443494:R64G;ENSP00000367079:R89G;ENSP00000367085:R89G	ENSP00000341044:R89G	R	+	1	2	ACACB	108061858	0.000000	0.05858	0.011000	0.14972	0.702000	0.40608	0.336000	0.19823	1.007000	0.39238	0.528000	0.53228	AGA	ACACB	-	NULL		0.637	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	A	NM_001093		109577475	+1	no_errors	ENST00000338432	ensembl	human	known	70_37	missense	SNP	0.000	G
AGPAT2	10555	genome.wustl.edu	37	9	139568327	139568327	+	Silent	SNP	C	C	T	rs370950858	byFrequency	TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr9:139568327C>T	ENST00000371696.2	-	6	779	c.714G>A	c.(712-714)gcG>gcA	p.A238A	AGPAT2_ENST00000538402.1_Silent_p.A238A|AGPAT2_ENST00000371694.3_Silent_p.A206A	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	238					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GGACGTCCGCCGCAGTGAGGC	0.677													c|||	4	0.000798722	0.003	0.0	5008	,	,		14754	0.0		0.0	False		,,,				2504	0.0																0								C	,	2,4390		0,2,2194	37.0	37.0	37.0		618,714	-0.9	0.0	9		37	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	AGPAT2	NM_001012727.1,NM_006412.3	,	0,2,6490	TT,TC,CC		0.0,0.0455,0.0154	,	206/247,238/279	139568327	2,12982	2196	4296	6492	SO:0001819	synonymous_variant	10555			AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	325	protein-coding gene	gene with protein product	"""LPAAT-beta"", ""lysophosphatidic acid acyltransferase, beta"""	603100	"""Berardinelli-Seip congenital lipodystrophy"", ""1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"""	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.714G>A	9.37:g.139568327C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans	p.A238	ENST00000371696.2	37	c.714	CCDS7003.1	9																																																																																			AGPAT2	-	NULL		0.677	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT2	HGNC	protein_coding	OTTHUMT00000055090.1	C	NM_006412		139568327	-1	no_errors	ENST00000371696	ensembl	human	known	70_37	silent	SNP	0.001	T
AK9	221264	genome.wustl.edu	37	6	109837248	109837248	+	Missense_Mutation	SNP	T	T	C			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr6:109837248T>C	ENST00000424296.2	-	31	3953	c.3877A>G	c.(3877-3879)Att>Gtt	p.I1293V		NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1293					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TTAATGGAAATTATTGGTATC	0.328																																																	0													193.0	161.0	171.0					6																	109837248		692	1591	2283	SO:0001583	missense	221264			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3877A>G	6.37:g.109837248T>C	ENSP00000410186:p.Ile1293Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.I1293V	ENST00000424296.2	37	c.3877	CCDS55048.1	6	.	.	.	.	.	.	.	.	.	.	T	5.917	0.353305	0.11182	.	.	ENSG00000155085	ENST00000424296	T	0.61627	0.09	5.7	5.7	0.88788	ATPase, AAA+ type, core (1);	.	.	.	.	T	0.23330	0.0564	N	0.22421	0.69	0.80722	D	1	B	0.21821	0.061	B	0.18561	0.022	T	0.13845	-1.0494	8	.	.	.	.	9.1226	0.36797	0.0:0.1407:0.0:0.8593	.	1293	Q5TCS8	AKD1_HUMAN	V	1293	ENSP00000410186:I1293V	.	I	-	1	0	AKD1	109943941	0.661000	0.27430	0.499000	0.27577	0.128000	0.20619	0.906000	0.28517	2.188000	0.69820	0.528000	0.53228	ATT	AKD1	-	smart_AAA+_ATPase		0.328	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		T	NM_001145128		109837248	-1	no_errors	ENST00000424296	ensembl	human	known	70_37	missense	SNP	0.460	C
ALDH3A2	224	genome.wustl.edu	37	17	19555037	19555037	+	Missense_Mutation	SNP	T	T	C			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr17:19555037T>C	ENST00000176643.6	+	2	777	c.331T>C	c.(331-333)Tgg>Cgg	p.W111R	ALDH3A2_ENST00000339618.4_Missense_Mutation_p.W111R|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.W111R|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.W111R|Y_RNA_ENST00000578640.1_RNA|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.W111R			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	111					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					AATCGGAGCTTGGAATTACCC	0.488																																																	0													162.0	147.0	152.0					17																	19555037		2203	4300	6503	SO:0001583	missense	224			L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"""Aldehyde dehydrogenases"""	403	protein-coding gene	gene with protein product	"""fatty aldehyde dehydrogenase"""	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.331T>C	17.37:g.19555037T>C	ENSP00000176643:p.Trp111Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.W111R	ENST00000176643.6	37	c.331	CCDS11210.1	17	.	.	.	.	.	.	.	.	.	.	T	20.8	4.058077	0.76074	.	.	ENSG00000072210	ENST00000446398;ENST00000176643;ENST00000395575;ENST00000339618	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.53	5.53	0.82687	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.053575	0.85682	D	0.000000	D	0.94984	0.8377	H	0.96943	3.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96474	0.9351	10	0.87932	D	0	-11.6524	14.9972	0.71443	0.0:0.0:0.0:1.0	.	111;111	P51648;P51648-2	AL3A2_HUMAN;.	R	111	ENSP00000395845:W111R;ENSP00000176643:W111R;ENSP00000378942:W111R;ENSP00000345774:W111R	ENSP00000176643:W111R	W	+	1	0	ALDH3A2	19495629	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	7.780000	0.85658	2.324000	0.78689	0.533000	0.62120	TGG	ALDH3A2	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)		0.488	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	ALDH3A2	HGNC	protein_coding	OTTHUMT00000132268.1	T			19555037	+1	no_errors	ENST00000339618	ensembl	human	known	70_37	missense	SNP	1.000	C
ANHX	647589	genome.wustl.edu	37	12	133795514	133795514	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr12:133795514C>T	ENST00000545940.1	-	8	2835	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	ANHX_ENST00000419717.1_Missense_Mutation_p.G366E			E9PGG2	ANHX_HUMAN	anomalous homeobox	366					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)										CATCCTGGCTCCCCAGAAGGC	0.592																																																	0																																										SO:0001583	missense	647589				CCDS53855.1	12q24.33	2012-05-18			ENSG00000227059	ENSG00000227059			40024	protein-coding gene	gene with protein product							Standard	NM_001191054		Approved		uc010tci.2	E9PGG2	OTTHUMG00000167949	ENST00000545940.1:c.1097G>A	12.37:g.133795514C>T	ENSP00000439513:p.Gly366Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96MC1	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.G366E	ENST00000545940.1	37	c.1097	CCDS53855.1	12	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307434	0.60305	.	.	ENSG00000227059	ENST00000545940;ENST00000419717	T;T	0.38560	1.13;1.13	3.73	2.82	0.32997	.	.	.	.	.	T	0.47507	0.1449	L	0.29908	0.895	0.25332	N	0.989024	D	0.89917	1.0	D	0.73380	0.98	T	0.22556	-1.0213	8	.	.	.	.	8.6049	0.33767	0.2289:0.7711:0.0:0.0	.	366	E9PGG2	.	E	366	ENSP00000439513:G366E;ENSP00000409950:G366E	.	G	-	2	0	AC226150.2	.	0.988000	0.35896	0.829000	0.32907	0.961000	0.63080	0.589000	0.23939	1.118000	0.41863	0.655000	0.94253	GGA	ANHX	-	NULL		0.592	ANHX-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ANHX	HGNC	protein_coding	OTTHUMT00000397203.1	C			133795514	-1	no_errors	ENST00000419717	ensembl	human	known	70_37	missense	SNP	0.829	T
ATP2A3	489	genome.wustl.edu	37	17	3833611	3833611	+	Missense_Mutation	SNP	A	A	G			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr17:3833611A>G	ENST00000352011.3	-	18	2782	c.2728T>C	c.(2728-2730)Tgc>Cgc	p.C910R	ATP2A3_ENST00000397039.1_Missense_Mutation_p.C94R|ATP2A3_ENST00000359983.3_Missense_Mutation_p.C910R|ATP2A3_ENST00000397035.3_Missense_Mutation_p.C910R|ATP2A3_ENST00000397041.3_Missense_Mutation_p.C910R|ATP2A3_ENST00000309890.7_Missense_Mutation_p.C910R|ATP2A3_ENST00000397043.3_Missense_Mutation_p.C910R			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	910					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGGGCATTGCACATTTCAATG	0.622																																					GBM(32;29 774 15719 37967)												0													73.0	58.0	63.0					17																	3833611		2201	4297	6498	SO:0001583	missense	489				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2728T>C	17.37:g.3833611A>G	ENSP00000301387:p.Cys910Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.C910R	ENST00000352011.3	37	c.2728	CCDS11041.1	17	.	.	.	.	.	.	.	.	.	.	A	18.20	3.571715	0.65765	.	.	ENSG00000074370	ENST00000397043;ENST00000397039;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	3.92	3.92	0.45320	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.053528	0.85682	D	0.000000	D	0.97539	0.9194	M	0.85710	2.77	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.995;0.996;0.995;0.998;0.995	D;D;P;D;P;P;P	0.83275	0.996;0.909;0.839;0.93;0.885;0.885;0.885	D	0.97983	1.0350	10	0.72032	D	0.01	.	12.9617	0.58462	1.0:0.0:0.0:0.0	.	19;910;910;910;910;910;910	Q6JHX1;Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;.;AT2A3_HUMAN;.;.;.	R	910;94;910;910;910;910;910;910	ENSP00000380236:C910R;ENSP00000380232:C94R;ENSP00000301387:C910R;ENSP00000353072:C910R;ENSP00000380234:C910R;ENSP00000312577:C910R;ENSP00000380229:C910R	ENSP00000312577:C910R	C	-	1	0	ATP2A3	3780360	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	9.135000	0.94478	2.013000	0.59113	0.533000	0.62120	TGC	ATP2A3	-	pfam_ATPase_P-typ_cation-transptr_C		0.622	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	ATP2A3	HGNC	protein_coding	OTTHUMT00000438401.1	A	NM_174953		3833611	-1	no_errors	ENST00000359983	ensembl	human	known	70_37	missense	SNP	1.000	G
ATP2B1	490	genome.wustl.edu	37	12	90003733	90003733	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr12:90003733G>T	ENST00000428670.3	-	15	2879	c.2423C>A	c.(2422-2424)gCa>gAa	p.A808E	ATP2B1_ENST00000393164.2_Missense_Mutation_p.A551E|ATP2B1_ENST00000261173.2_Missense_Mutation_p.A808E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A808E|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A808E			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	808					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TCCAACATCTGCTTTCTTTAG	0.368																																																	0													129.0	115.0	120.0					12																	90003733		2203	4300	6503	SO:0001583	missense	490			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2423C>A	12.37:g.90003733G>T	ENSP00000392043:p.Ala808Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.A808E	ENST00000428670.3	37	c.2423	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.180002	0.94846	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.99214	-5.57;-5.57;-5.57;-5.57;-5.57	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	H	0.99842	4.835	0.80722	D	1	P;D;D	0.89917	0.947;0.999;1.0	P;D;D	0.79784	0.559;0.993;0.993	D	0.96726	0.9536	10	0.87932	D	0	-20.0594	20.3431	0.98773	0.0:0.0:1.0:0.0	.	808;808;808	P20020-3;P20020-2;P20020-6	.;.;.	E	808;808;808;808;551	ENSP00000261173:A808E;ENSP00000343599:A808E;ENSP00000352054:A808E;ENSP00000392043:A808E;ENSP00000376869:A551E	ENSP00000261173:A808E	A	-	2	0	ATP2B1	88527864	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	GCA	ATP2B1	-	pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr		0.368	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	G	NM_001682		90003733	-1	no_errors	ENST00000261173	ensembl	human	known	70_37	missense	SNP	1.000	T
ATP9A	10079	genome.wustl.edu	37	20	50225060	50225060	+	Silent	SNP	G	G	C			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr20:50225060G>C	ENST00000338821.5	-	25	3006	c.2742C>G	c.(2740-2742)ctC>ctG	p.L914L	ATP9A_ENST00000402822.1_Silent_p.L793L|ATP9A_ENST00000311637.5_Silent_p.L778L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	914					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACAGAACCTTGAGAAGATCCT	0.438																																																	0													164.0	149.0	154.0					20																	50225060		2203	4300	6503	SO:0001819	synonymous_variant	10079			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2742C>G	20.37:g.50225060G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.L914	ENST00000338821.5	37	c.2742	CCDS33489.1	20																																																																																			ATP9A	-	tigrfam_ATPase_P-typ_Plipid-transl		0.438	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	G	NM_006045		50225060	-1	no_errors	ENST00000338821	ensembl	human	known	70_37	silent	SNP	0.993	C
BCL9	607	genome.wustl.edu	37	1	147096378	147096378	+	Missense_Mutation	SNP	C	C	T	rs141699147		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:147096378C>T	ENST00000234739.3	+	10	4639	c.3899C>T	c.(3898-3900)cCg>cTg	p.P1300L		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1300	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GTGGGAACTCCGGACATCCCT	0.582			T	"""IGH@, IGL@"""	B-ALL								C|||	1	0.000199681	0.0008	0.0	5008	,	,		17133	0.0		0.0	False		,,,				2504	0.0							Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0								C	LEU/PRO	7,4399	12.9+/-30.5	0,7,2196	86.0	69.0	75.0		3899	5.3	1.0	1	dbSNP_134	75	0,8600		0,0,4300	yes	missense	BCL9	NM_004326.2	98	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	benign	1300/1427	147096378	7,12999	2203	4300	6503	SO:0001583	missense	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.3899C>T	1.37:g.147096378C>T	ENSP00000234739:p.Pro1300Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T489	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.P1300L	ENST00000234739.3	37	c.3899	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612579	0.28712	0.001589	0.0	ENSG00000116128	ENST00000234739	T	0.48201	0.82	5.26	5.26	0.73747	.	0.054056	0.85682	D	0.000000	T	0.21962	0.0529	L	0.29908	0.895	0.46222	D	0.998937	P;P	0.43352	0.804;0.804	B;B	0.30251	0.113;0.113	T	0.08973	-1.0696	10	0.44086	T	0.13	-9.7449	18.8573	0.92257	0.0:1.0:0.0:0.0	.	1300;1300	Q1JQ81;O00512	.;BCL9_HUMAN	L	1300	ENSP00000234739:P1300L	ENSP00000234739:P1300L	P	+	2	0	BCL9	145563002	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	4.651000	0.61447	2.456000	0.83038	0.650000	0.86243	CCG	BCL9	-	NULL		0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	C	NM_004326		147096378	+1	no_errors	ENST00000234739	ensembl	human	known	70_37	missense	SNP	1.000	T
BPTF	2186	genome.wustl.edu	37	17	65908943	65908943	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr17:65908943C>G	ENST00000321892.4	+	13	5382	c.5321C>G	c.(5320-5322)tCt>tGt	p.S1774C	BPTF_ENST00000335221.5_Missense_Mutation_p.S1774C|BPTF_ENST00000424123.3_Missense_Mutation_p.S1635C|BPTF_ENST00000306378.6_Missense_Mutation_p.S1648C			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1774	Thr-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GACATCATCTCTGTAAAGGAG	0.512																																																	0													84.0	69.0	74.0					17																	65908943		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5321C>G	17.37:g.65908943C>G	ENSP00000315454:p.Ser1774Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S1774C	ENST00000321892.4	37	c.5321		17	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923684	0.34002	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.65916	-0.17;-0.18;-0.17	5.47	5.47	0.80525	.	.	.	.	.	T	0.72358	0.3450	L	0.32530	0.975	0.42835	D	0.994036	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.72357	-0.4318	9	0.48119	T	0.1	-10.6731	19.6865	0.95981	0.0:1.0:0.0:0.0	.	1648;1774	Q12830-2;Q12830-4	.;.	C	1648;1774;1774	ENSP00000307208:S1648C;ENSP00000334351:S1774C;ENSP00000315454:S1774C	ENSP00000307208:S1648C	S	+	2	0	BPTF	63339405	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.279000	0.58953	2.728000	0.93425	0.650000	0.86243	TCT	BPTF	-	NULL		0.512	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		C	NM_182641, NM_004459		65908943	+1	no_errors	ENST00000321892	ensembl	human	known	70_37	missense	SNP	1.000	G
BRWD1	54014	genome.wustl.edu	37	21	40619736	40619736	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr21:40619736G>A	ENST00000333229.2	-	21	2699	c.2372C>T	c.(2371-2373)tCa>tTa	p.S791L	BRWD1_ENST00000380800.3_Missense_Mutation_p.S791L|BRWD1_ENST00000342449.3_Missense_Mutation_p.S791L	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	791					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCTAGACTGTGATACCAAAAC	0.388																																					Melanoma(170;988 1986 4794 16843 39731)												0													101.0	90.0	94.0					21																	40619736		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2372C>T	21.37:g.40619736G>A	ENSP00000330753:p.Ser791Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.S791L	ENST00000333229.2	37	c.2372	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527930	0.64860	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.56776	0.44;0.46;0.54	5.23	5.23	0.72850	.	0.437846	0.21286	N	0.077080	T	0.47192	0.1432	L	0.61387	1.9	0.45995	D	0.998803	B;B	0.25667	0.029;0.131	B;B	0.19946	0.027;0.023	T	0.47935	-0.9078	10	0.46703	T	0.11	-6.4779	8.3998	0.32579	0.1353:0.0:0.8647:0.0	.	791;791	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	L	791	ENSP00000330753:S791L;ENSP00000344333:S791L;ENSP00000370178:S791L	ENSP00000330753:S791L	S	-	2	0	BRWD1	39541606	0.976000	0.34144	0.942000	0.38095	0.798000	0.45092	3.798000	0.55522	2.601000	0.87937	0.591000	0.81541	TCA	BRWD1	-	NULL		0.388	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	G	NM_033656		40619736	-1	no_errors	ENST00000333229	ensembl	human	known	70_37	missense	SNP	0.387	A
C14orf183	196913	genome.wustl.edu	37	14	50558407	50558407	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr14:50558407C>A	ENST00000305273.1	-	2	160	c.161G>T	c.(160-162)gGg>gTg	p.G54V	RP11-58E21.5_ENST00000603228.1_lincRNA|RP11-58E21.7_ENST00000556019.2_lincRNA	NM_001014830.1	NP_001014830.1	Q8WXQ3	CN183_HUMAN	chromosome 14 open reading frame 183	54										endometrium(2)|large_intestine(2)|lung(3)	7						GCAGCACTTCCCTCTCTGAGC	0.612																																																	0													49.0	49.0	49.0					14																	50558407		2067	4220	6287	SO:0001583	missense	196913			AF390030	CCDS45101.1	14q21.3	2012-09-26			ENSG00000168260	ENSG00000168260			27285	protein-coding gene	gene with protein product							Standard	NM_001014830		Approved		uc010tqk.2	Q8WXQ3	OTTHUMG00000170858	ENST00000305273.1:c.161G>T	14.37:g.50558407C>A	ENSP00000303234:p.Gly54Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.G54V	ENST00000305273.1	37	c.161	CCDS45101.1	14	.	.	.	.	.	.	.	.	.	.	C	9.061	0.994459	0.19043	.	.	ENSG00000168260	ENST00000305273	.	.	.	3.24	0.876	0.19138	.	.	.	.	.	T	0.11324	0.0276	N	0.08118	0	0.09310	N	1	P	0.52316	0.952	B	0.40534	0.332	T	0.14531	-1.0469	8	0.87932	D	0	.	4.6718	0.12692	0.0:0.2981:0.0:0.7019	.	54	Q8WXQ3	CN183_HUMAN	V	54	.	ENSP00000303234:G54V	G	-	2	0	C14orf183	49628157	0.000000	0.05858	0.004000	0.12327	0.019000	0.09904	0.051000	0.14141	0.177000	0.19895	0.609000	0.83330	GGG	C14orf183	-	NULL		0.612	C14orf183-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C14orf183	HGNC	protein_coding	OTTHUMT00000410705.1	C	NM_001014830		50558407	-1	no_errors	ENST00000305273	ensembl	human	novel	70_37	missense	SNP	0.005	A
C3orf70	285382	genome.wustl.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:184870595G>C	ENST00000335012.2	-	1	207	c.17C>G	c.(16-18)tCg>tGg	p.S6W		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716																																																	2	Substitution - Missense(2)	urinary_tract(1)|lung(1)											16.0	17.0	17.0					3																	184870595		2196	4292	6488	SO:0001583	missense	285382				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.17C>G	3.37:g.184870595G>C	ENSP00000334974:p.Ser6Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNY2|B9EH83	Missense_Mutation	SNP	NULL	p.S6W	ENST00000335012.2	37	c.17	CCDS33900.1	3	.	.	.	.	.	.	.	.	.	.	G	6.464	0.453691	0.12283	.	.	ENSG00000187068	ENST00000335012	.	.	.	2.01	2.01	0.26516	.	0.281820	0.29692	N	0.011445	T	0.22936	0.0554	N	0.08118	0	0.38949	D	0.958313	P	0.37688	0.605	B	0.28849	0.095	T	0.18023	-1.0350	9	0.48119	T	0.1	.	11.538	0.50651	0.0:0.0:1.0:0.0	.	6	A6NLC5	CC070_HUMAN	W	6	.	ENSP00000334974:S6W	S	-	2	0	C3orf70	186353289	0.741000	0.28217	0.135000	0.22099	0.031000	0.12232	2.664000	0.46783	0.951000	0.37770	0.195000	0.17529	TCG	C3orf70	-	NULL		0.716	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf70	HGNC	protein_coding	OTTHUMT00000345323.1	G	NM_001025266		184870595	-1	no_errors	ENST00000335012	ensembl	human	known	70_37	missense	SNP	0.804	C
CACNA1E	777	genome.wustl.edu	37	1	181453098	181453098	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:181453098G>C	ENST00000367573.2	+	1	218	c.218G>C	c.(217-219)gGa>gCa	p.G73A	CACNA1E_ENST00000360108.3_Missense_Mutation_p.G73A|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G24A|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G24A|CACNA1E_ENST00000526775.1_Missense_Mutation_p.G73A|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G73A	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	73					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTCATCTTCGGAGAAGATAAC	0.502																																																	0													173.0	177.0	176.0					1																	181453098		1916	4135	6051	SO:0001583	missense	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.218G>C	1.37:g.181453098G>C	ENSP00000356545:p.Gly73Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.G73A	ENST00000367573.2	37	c.218	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908816	0.72868	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000002	T	0.36413	0.0966	L	0.28400	0.85	0.80722	D	1	P	0.36683	0.565	B	0.26416	0.069	T	0.29212	-1.0019	10	0.54805	T	0.06	.	18.5497	0.91058	0.0:0.0:1.0:0.0	.	73	Q15878-3	.	A	73;73;73;24;24;73;73	ENSP00000432038:G73A;ENSP00000356542:G73A;ENSP00000434814:G73A;ENSP00000350183:G24A;ENSP00000351101:G24A;ENSP00000353222:G73A;ENSP00000356545:G73A	ENSP00000350183:G24A	G	+	2	0	CACNA1E	179719721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.956000	0.56722	2.667000	0.90743	0.561000	0.74099	GGA	CACNA1E	-	NULL		0.502	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	G	NM_000721		181453098	+1	no_errors	ENST00000367573	ensembl	human	known	70_37	missense	SNP	1.000	C
CCDC168	643677	genome.wustl.edu	37	13	103385999	103385999	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr13:103385999delT	ENST00000322527.2	-	1	3160	c.3161delA	c.(3160-3162)aagfs	p.K1054fs		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	1054																	aggctgagcctttttccctgt	0.408																																																	0													95.0	79.0	84.0					13																	103385999		692	1590	2282	SO:0001589	frameshift_variant	643677				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.3161delA	13.37:g.103385999delT	ENSP00000320232:p.Lys1054fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N800	Frame_Shift_Del	DEL	NULL	p.K1054fs	ENST00000322527.2	37	c.3161		13																																																																																			CCDC168	-	NULL		0.408	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	CCDC168	HGNC	protein_coding		T	NM_001146197		103385999	-1	no_errors	ENST00000322527	ensembl	human	known	70_37	frame_shift_del	DEL	0.033	-
KDM5A	5927	genome.wustl.edu	37	12	498527	498527	+	5'UTR	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr12:498527G>A	ENST00000399788.2	-	0	93				CCDC77_ENST00000422000.1_De_novo_Start_InFrame|KDM5A_ENST00000382815.4_5'UTR|CCDC77_ENST00000540180.1_De_novo_Start_InFrame	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A						chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCCTTCCGCAGCTGCACGACG	0.562			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0																																										SO:0001623	5_prime_UTR_variant	84318				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.-270C>T	12.37:g.498527G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MV76|Q4LE72|Q86XZ1	RNA	SNP	-	NULL	ENST00000399788.2	37	NULL	CCDS41736.1	12																																																																																			CCDC77	-	-		0.562	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC77	HGNC	protein_coding	OTTHUMT00000397812.1	G	NM_005056		498527	+1	no_errors	ENST00000537453	ensembl	human	putative	70_37	rna	SNP	0.001	A
CDO1	1036	genome.wustl.edu	37	5	115152070	115152070	+	Missense_Mutation	SNP	G	G	T	rs140922998		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr5:115152070G>T	ENST00000250535.4	-	1	581	c.25C>A	c.(25-27)Cca>Aca	p.P9T	CDO1_ENST00000502631.1_Intron	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	9					cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|inflammatory response (GO:0006954)|L-cysteine catabolic process (GO:0019448)|lactation (GO:0007595)|oxidation-reduction process (GO:0055114)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid biosynthetic process (GO:0000097)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)	cytosol (GO:0005829)	cysteine dioxygenase activity (GO:0017172)|ferrous iron binding (GO:0008198)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)	AGGGTCCGTGGCTTCAGCACT	0.632																																																	0													147.0	144.0	145.0					5																	115152070		2202	4300	6502	SO:0001583	missense	1036				CCDS4121.1	5q23.2	2013-06-11	2013-06-11		ENSG00000129596	ENSG00000129596	1.13.11.20		1795	protein-coding gene	gene with protein product		603943	"""cysteine dioxygenase, type I"""			7524679	Standard	NM_001801		Approved		uc003krg.3	Q16878	OTTHUMG00000128891	ENST00000250535.4:c.25C>A	5.37:g.115152070G>T	ENSP00000250535:p.Pro9Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAK4|P78513|Q6FHZ8|Q8TB64	Missense_Mutation	SNP	pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin	p.P9T	ENST00000250535.4	37	c.25	CCDS4121.1	5	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174021	0.78452	.	.	ENSG00000129596	ENST00000250535	T	0.41065	1.01	5.3	5.3	0.74995	Cupin, RmlC-type (1);	0.056264	0.64402	D	0.000001	T	0.41465	0.1160	L	0.45352	1.415	0.48901	D	0.999724	P	0.52170	0.951	P	0.46362	0.514	T	0.14420	-1.0473	10	0.33940	T	0.23	-11.4463	14.9449	0.71023	0.0:0.1849:0.8151:0.0	.	9	Q16878	CDO1_HUMAN	T	9	ENSP00000250535:P9T	ENSP00000250535:P9T	P	-	1	0	CDO1	115179969	1.000000	0.71417	0.997000	0.53966	0.668000	0.39293	5.616000	0.67709	2.639000	0.89480	0.650000	0.86243	CCA	CDO1	-	pfam_Cys_dOase_I,superfamily_RmlC_Cupin		0.632	CDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDO1	HGNC	protein_coding	OTTHUMT00000250853.2	G	NM_001801		115152070	-1	no_errors	ENST00000250535	ensembl	human	known	70_37	missense	SNP	1.000	T
CEACAM16	388551	genome.wustl.edu	37	19	45213775	45213775	+	Silent	SNP	G	G	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr19:45213775G>T	ENST00000405314.2	+	6	1372	c.1275G>T	c.(1273-1275)ggG>ggT	p.G425G	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000587331.1_Silent_p.G425G			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	425					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CAGCCCTGGGGTAACAGCGTG	0.652																																																	0													97.0	106.0	103.0					19																	45213775		2010	4161	6171	SO:0001819	synonymous_variant	388551				CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.1275G>T	19.37:g.45213775G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7LI12	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G425	ENST00000405314.2	37	c.1275	CCDS54278.1	19																																																																																			CEACAM16	-	NULL		0.652	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CEACAM16	HGNC	protein_coding		G	XM_371177		45213775	+1	no_errors	ENST00000405314	ensembl	human	known	70_37	silent	SNP	0.919	T
CEP72	55722	genome.wustl.edu	37	5	624663	624663	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr5:624663G>C	ENST00000264935.5	+	4	571	c.481G>C	c.(481-483)Gag>Cag	p.E161Q	CEP72_ENST00000444221.1_Missense_Mutation_p.E161Q	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	161					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CGACTCCAAAGAGAGCGTCCC	0.537																																																	0													68.0	63.0	65.0					5																	624663		2203	4300	6503	SO:0001583	missense	55722			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.481G>C	5.37:g.624663G>C	ENSP00000264935:p.Glu161Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C	p.E161Q	ENST00000264935.5	37	c.481	CCDS34126.1	5	.	.	.	.	.	.	.	.	.	.	G	8.621	0.891453	0.17613	.	.	ENSG00000112877	ENST00000264935;ENST00000444221	T;T	0.18657	3.09;2.2	5.54	2.79	0.32731	.	0.485342	0.21011	N	0.081699	T	0.06325	0.0163	N	0.02247	-0.625	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.25641	-1.0126	10	0.25751	T	0.34	-4.1691	1.6444	0.02758	0.1202:0.3361:0.3091:0.2346	.	161	Q9P209	CEP72_HUMAN	Q	161	ENSP00000264935:E161Q;ENSP00000392052:E161Q	ENSP00000264935:E161Q	E	+	1	0	CEP72	677663	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	0.077000	0.14738	0.822000	0.34565	0.655000	0.94253	GAG	CEP72	-	NULL		0.537	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP72	HGNC	protein_coding	OTTHUMT00000365967.3	G	NM_018140		624663	+1	no_errors	ENST00000264935	ensembl	human	known	70_37	missense	SNP	0.000	C
CLSPN	63967	genome.wustl.edu	37	1	36204766	36204766	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:36204766C>T	ENST00000318121.3	-	20	3458	c.3401G>A	c.(3400-3402)cGa>cAa	p.R1134Q	CLSPN_ENST00000373220.3_Missense_Mutation_p.R1070Q|CLSPN_ENST00000466308.1_5'Flank|CLSPN_ENST00000520551.1_Missense_Mutation_p.R1081Q|CLSPN_ENST00000251195.5_Missense_Mutation_p.R1134Q|RP11-435D7.3_ENST00000373226.2_RNA	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1134					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTCCTCATTCGCCCAGGACC	0.463																																																	0													103.0	94.0	97.0					1																	36204766		2203	4300	6503	SO:0001583	missense	63967			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3401G>A	1.37:g.36204766C>T	ENSP00000312995:p.Arg1134Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	NULL	p.R1134Q	ENST00000318121.3	37	c.3401	CCDS396.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.877908	0.97055	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	T;T;T;T	0.56444	0.47;0.46;0.53;0.55	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.76407	0.3983	M	0.81802	2.56	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77816	-0.2447	10	0.87932	D	0	-6.5042	20.3827	0.98937	0.0:1.0:0.0:0.0	.	1070;1134	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	Q	1134;1134;1070;1081	ENSP00000251195:R1134Q;ENSP00000312995:R1134Q;ENSP00000362317:R1070Q;ENSP00000428848:R1081Q	ENSP00000251195:R1134Q	R	-	2	0	CLSPN	35977353	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.823000	0.97156	0.644000	0.83932	CGA	CLSPN	-	NULL		0.463	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSPN	HGNC	protein_coding	OTTHUMT00000377857.1	C	NM_022111		36204766	-1	no_errors	ENST00000318121	ensembl	human	known	70_37	missense	SNP	1.000	T
CNTN2	6900	genome.wustl.edu	37	1	205042274	205042274	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:205042274G>A	ENST00000331830.4	+	22	3207	c.2923G>A	c.(2923-2925)Gaa>Aaa	p.E975K		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	975	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCCAGTGCCTGAAGACATTGG	0.567																																					Melanoma(183;2548 2817 37099 41192)												0													84.0	76.0	79.0					1																	205042274		2203	4300	6503	SO:0001583	missense	6900			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2923G>A	1.37:g.205042274G>A	ENSP00000330633:p.Glu975Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	P78432|Q5T054	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E975K	ENST00000331830.4	37	c.2923	CCDS1449.1	1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533584	0.27387	.	.	ENSG00000184144	ENST00000331830	T	0.16073	2.37	5.29	5.29	0.74685	Fibronectin, type III (2);	0.000000	0.51477	D	0.000090	T	0.14056	0.0340	L	0.32530	0.975	0.46823	D	0.99921	B	0.20780	0.048	B	0.18871	0.023	T	0.06807	-1.0806	10	0.06757	T	0.87	.	18.888	0.92387	0.0:0.0:1.0:0.0	.	975	Q02246	CNTN2_HUMAN	K	975	ENSP00000330633:E975K	ENSP00000330633:E975K	E	+	1	0	CNTN2	203308897	1.000000	0.71417	0.918000	0.36340	0.793000	0.44817	5.583000	0.67484	2.635000	0.89317	0.655000	0.94253	GAA	CNTN2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.567	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN2	HGNC	protein_coding	OTTHUMT00000090080.3	G	NM_005076		205042274	+1	no_errors	ENST00000331830	ensembl	human	known	70_37	missense	SNP	0.987	A
COBLL1	22837	genome.wustl.edu	37	2	165561498	165561498	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:165561498G>A	ENST00000392717.2	-	8	1232	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S	COBLL1_ENST00000194871.6_Missense_Mutation_p.P438S|COBLL1_ENST00000342193.4_Missense_Mutation_p.P372S|COBLL1_ENST00000375458.2_Missense_Mutation_p.P372S|COBLL1_ENST00000409184.3_Missense_Mutation_p.P410S|COBLL1_ENST00000491126.2_5'UTR			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	410						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGATGCGGGGGTATTTTGGAG	0.428																																																	0													176.0	170.0	172.0					2																	165561498		2203	4300	6503	SO:0001583	missense	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1228C>T	2.37:g.165561498G>A	ENSP00000376478:p.Pro410Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	pfam_Cordon-bleu_domain,pfscan_WH2_dom	p.P438S	ENST00000392717.2	37	c.1312		2	.	.	.	.	.	.	.	.	.	.	G	8.409	0.843777	0.16963	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.74	-1.69	0.08186	.	0.614668	0.16113	N	0.228976	T	0.14743	0.0356	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.14023	0.006;0.006;0.01	T	0.22243	-1.0222	9	0.22706	T	0.39	-0.0618	7.0491	0.25063	0.4147:0.2068:0.3786:0.0	.	410;438;410	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	S	372;372;410;410;438	.	ENSP00000194871:P438S	P	-	1	0	COBLL1	165269744	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.291000	0.08343	-0.371000	0.08004	-1.084000	0.02203	CCC	COBLL1	-	NULL		0.428	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		G	NM_014900		165561498	-1	no_errors	ENST00000194871	ensembl	human	known	70_37	missense	SNP	0.000	A
COL11A1	1301	genome.wustl.edu	37	1	103379961	103379961	+	Splice_Site	SNP	C	C	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:103379961C>A	ENST00000370096.3	-	52	4237	c.3925G>T	c.(3925-3927)Ggt>Tgt	p.G1309C	COL11A1_ENST00000353414.4_Splice_Site_p.G1270C|COL11A1_ENST00000358392.2_Splice_Site_p.G1321C|COL11A1_ENST00000512756.1_Splice_Site_p.G1193C	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1309	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAACAGGACCCTAGAATGAC	0.363																																																	0													35.0	35.0	35.0					1																	103379961		2201	4299	6500	SO:0001630	splice_region_variant	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3925-1G>T	1.37:g.103379961C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.G1321C	ENST00000370096.3	37	c.3961	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099791	0.56183	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99186	-4.24;-4.24;-5.53;-5.53	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.99648	0.9870	H	0.97365	3.99	0.80722	D	1	B;B;D;B;B	0.89917	0.125;0.197;1.0;0.125;0.049	B;B;D;B;B	0.97110	0.041;0.09;1.0;0.041;0.043	D	0.97698	1.0183	10	0.87932	D	0	.	19.5192	0.95179	0.0:1.0:0.0:0.0	.	1193;1270;1321;1309;529	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	C	1309;1321;1270;529;1193	ENSP00000359114:G1309C;ENSP00000351163:G1321C;ENSP00000302551:G1270C;ENSP00000426533:G1193C	ENSP00000302551:G1270C	G	-	1	0	COL11A1	103152549	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.562000	0.67346	2.611000	0.88343	0.655000	0.94253	GGT	COL11A1	-	NULL		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	C	NM_080630	Missense_Mutation	103379961	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	missense	SNP	1.000	A
COL4A2	1284	genome.wustl.edu	37	13	111098209	111098209	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr13:111098209G>C	ENST00000360467.5	+	17	1297	c.991G>C	c.(991-993)Gat>Cat	p.D331H		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	331	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCAAGGGCCTGATGGACCCCG	0.522																																																	0													106.0	109.0	108.0					13																	111098209		1928	4124	6052	SO:0001583	missense	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.991G>C	13.37:g.111098209G>C	ENSP00000353654:p.Asp331His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.D331H	ENST00000360467.5	37	c.991	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	G	8.127	0.782273	0.16189	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93604	-3.25	3.74	-0.26	0.12967	.	1.024090	0.07811	N	0.958102	D	0.86485	0.5944	L	0.37561	1.115	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.71358	-0.4617	10	0.36615	T	0.2	.	0.7532	0.00994	0.2297:0.1865:0.393:0.1908	.	331	P08572	CO4A2_HUMAN	H	331	ENSP00000353654:D331H	ENSP00000257309:D331H	D	+	1	0	COL4A2	109896210	0.000000	0.05858	0.000000	0.03702	0.564000	0.35744	0.124000	0.15728	-0.090000	0.12462	0.643000	0.83706	GAT	COL4A2	-	pfam_Collagen		0.522	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	G	NM_001846		111098209	+1	no_errors	ENST00000360467	ensembl	human	known	70_37	missense	SNP	0.000	C
CPE	1363	genome.wustl.edu	37	4	166403452	166403452	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr4:166403452C>A	ENST00000402744.4	+	4	1011	c.731C>A	c.(730-732)tCt>tAt	p.S244Y		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	244					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTTGTGCTTTCTGCCAATCTC	0.388																																																	0													166.0	147.0	153.0					4																	166403452		2203	4300	6503	SO:0001583	missense	1363			X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.731C>A	4.37:g.166403452C>A	ENSP00000386104:p.Ser244Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.S244Y	ENST00000402744.4	37	c.731	CCDS3810.1	4	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094249	0.76870	.	.	ENSG00000109472	ENST00000513982;ENST00000402744;ENST00000261510;ENST00000431967;ENST00000511992	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	5.43	5.43	0.79202	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.49575	0.1565	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66945	-0.5795	10	0.87932	D	0	-5.5733	19.2266	0.93820	0.0:1.0:0.0:0.0	.	244	P16870	CBPE_HUMAN	Y	132;244;208;132;132	ENSP00000424830:S132Y;ENSP00000386104:S244Y;ENSP00000416601:S132Y;ENSP00000423699:S132Y	ENSP00000261510:S208Y	S	+	2	0	CPE	166622902	1.000000	0.71417	0.999000	0.59377	0.493000	0.33554	5.738000	0.68613	2.531000	0.85337	0.650000	0.86243	TCT	CPE	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.388	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPE	HGNC	protein_coding	OTTHUMT00000317094.2	C	NM_001873		166403452	+1	no_errors	ENST00000402744	ensembl	human	known	70_37	missense	SNP	1.000	A
CRLF2	64109	genome.wustl.edu	37	X	1315003	1315003	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:1315003C>G	ENST00000381567.3	-	6	657	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	220					immunoglobulin secretion involved in immune response (GO:0002380)|inflammatory response (GO:0006954)|T-helper 2 cell cytokine production (GO:0035745)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTTGGTGTCTCTGCACAGGCA	0.453			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""																																			Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	64109	cytokine receptor-like factor 2		L	0													153.0	156.0	155.0					X																	1315003		1857	4102	5959	SO:0001583	missense	64109			AF142570	CCDS75944.1, CCDS75945.1	Xp22.3 and Yp11.3	2011-10-07			ENSG00000205755	ENSG00000205755		"""Pseudoautosomal regions / PAR1"""	14281	protein-coding gene	gene with protein product		300357, 400023				11237741, 11474172	Standard	NM_022148		Approved	CRL2, TSLPR	uc004cpk.2	Q9HC73	OTTHUMG00000067432	ENST00000381567.3:c.658G>C	X.37:g.1315003C>G	ENSP00000370979:p.Glu220Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H5R3	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.E220Q	ENST00000381567.3	37	c.658		X	.	.	.	.	.	.	.	.	.	.	c	0.604	-0.827973	0.02734	.	.	ENSG00000205755	ENST00000381567;ENST00000400841	D;D	0.98493	-4.96;-4.96	1.46	0.421	0.16451	.	10.698500	0.00659	U	0.000593	D	0.95027	0.8390	.	.	.	0.09310	N	1	B	0.24823	0.112	B	0.22880	0.042	D	0.89576	0.3817	9	0.26408	T	0.33	0.1933	5.8702	0.18799	0.0:0.6704:0.3296:0.0	.	220	Q9HC73	CRLF2_HUMAN	Q	220	ENSP00000370979:E220Q;ENSP00000383641:E220Q	ENSP00000370979:E220Q	E	-	1	0	CRLF2	1275003	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.084000	0.11268	-0.126000	0.11682	-0.916000	0.02749	GAG	CRLF2	-	NULL		0.453	CRLF2-202	KNOWN	basic|appris_principal	protein_coding	CRLF2	HGNC	protein_coding		C	NM_022148		1315003	-1	no_errors	ENST00000381567	ensembl	human	known	70_37	missense	SNP	0.003	G
CRTAM	56253	genome.wustl.edu	37	11	122722543	122722543	+	Silent	SNP	G	G	C			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr11:122722543G>C	ENST00000227348.4	+	3	383	c.336G>C	c.(334-336)gtG>gtC	p.V112V		NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AAGTGAAAGTGATTGTGCTGG	0.433																																																	0													103.0	87.0	93.0					11																	122722543		2202	4299	6501	SO:0001819	synonymous_variant	56253			AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.336G>C	11.37:g.122722543G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.V112	ENST00000227348.4	37	c.336	CCDS8437.1	11																																																																																			CRTAM	-	pfam_Ig_V-set,smart_Ig_sub		0.433	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRTAM	HGNC	protein_coding	OTTHUMT00000387507.1	G	NM_019604		122722543	+1	no_errors	ENST00000227348	ensembl	human	known	70_37	silent	SNP	0.156	C
CSF1	1435	genome.wustl.edu	37	1	110466722	110466722	+	Silent	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:110466722C>T	ENST00000329608.6	+	6	1870	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L	CSF1_ENST00000344188.5_Silent_p.L377L|CSF1_ENST00000369801.1_Silent_p.L377L|CSF1_ENST00000369802.3_Silent_p.L493L|CSF1_ENST00000420111.2_Silent_p.L195L	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	493					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCCGCAGCTCCAGGAGTCTG	0.612																																																	0													50.0	52.0	51.0					1																	110466722		2203	4300	6503	SO:0001819	synonymous_variant	1435			BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.1479C>T	1.37:g.110466722C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Silent	SNP	pfam_MCSF-1,superfamily_4_helix_cytokine-like_core,pirsf_MCSF-1	p.L493	ENST00000329608.6	37	c.1479	CCDS816.1	1																																																																																			CSF1	-	pfam_MCSF-1,pirsf_MCSF-1		0.612	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1	HGNC	protein_coding	OTTHUMT00000032208.1	C	NM_000757		110466722	+1	no_errors	ENST00000329608	ensembl	human	known	70_37	silent	SNP	0.004	T
CSMD1	64478	genome.wustl.edu	37	8	3351195	3351195	+	Silent	SNP	C	C	T	rs56109797	byFrequency	TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr8:3351195C>T	ENST00000520002.1	-	12	1956	c.1401G>A	c.(1399-1401)ctG>ctA	p.L467L	CSMD1_ENST00000537824.1_Silent_p.L466L|CSMD1_ENST00000602723.1_Silent_p.L467L|CSMD1_ENST00000400186.3_Silent_p.L467L|CSMD1_ENST00000539096.1_Silent_p.L466L|CSMD1_ENST00000542608.1_Silent_p.L466L|CSMD1_ENST00000602557.1_Silent_p.L467L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	467	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACCAACCGTCAGGGTGTCAT	0.498																																																	0													81.0	86.0	84.0					8																	3351195		2182	4298	6480	SO:0001819	synonymous_variant	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1401G>A	8.37:g.3351195C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.L467	ENST00000520002.1	37	c.1401		8																																																																																			CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.498	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		3351195	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	silent	SNP	0.156	T
CT47B1	643311	genome.wustl.edu	37	X	120008797	120008797	+	Missense_Mutation	SNP	T	T	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:120008797T>A	ENST00000371311.3	-	1	982	c.728A>T	c.(727-729)gAa>gTa	p.E243V		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	243								p.K235_E243delKLTEEATEE(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TGCGGCCGGTtcctctgtggc	0.692																																																	1	Deletion - In frame(1)	ovary(1)											53.0	47.0	49.0					X																	120008797		692	1589	2281	SO:0001583	missense	643311				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.728A>T	X.37:g.120008797T>A	ENSP00000360360:p.Glu243Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NM97	Missense_Mutation	SNP	NULL	p.E243V	ENST00000371311.3	37	c.728	CCDS48161.1	X	.	.	.	.	.	.	.	.	.	.	T	9.770	1.172377	0.21704	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.72	0.396	0.16309	.	.	.	.	.	T	0.20820	0.0501	L	0.29908	0.895	0.09310	N	1	P	0.48694	0.914	B	0.43274	0.414	T	0.12811	-1.0533	8	0.72032	D	0.01	.	4.2359	0.10625	0.0:0.0:0.3608:0.6392	.	243	P0C2W7	CT47B_HUMAN	V	243	.	ENSP00000360360:E243V	E	-	2	0	CT47B1	119892825	0.002000	0.14202	0.000000	0.03702	0.096000	0.18686	0.711000	0.25764	0.048000	0.15891	0.125000	0.15800	GAA	CT47B1	-	NULL		0.692	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CT47B1	HGNC	protein_coding	OTTHUMT00000058121.1	T	NM_001145718		120008797	-1	no_errors	ENST00000371311	ensembl	human	known	70_37	missense	SNP	0.000	A
CYP46A1	10858	genome.wustl.edu	37	14	100192553	100192553	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr14:100192553C>G	ENST00000261835.3	+	14	1396	c.1292C>G	c.(1291-1293)tCc>tGc	p.S431C	CYP46A1_ENST00000554176.1_Missense_Mutation_p.S268C|CYP46A1_ENST00000423126.2_Missense_Mutation_p.S334C	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	431					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TTCCCCTTCTCCCTGGGCCAC	0.622																																																	0													73.0	69.0	71.0					14																	100192553		2203	4300	6503	SO:0001583	missense	10858			AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.1292C>G	14.37:g.100192553C>G	ENSP00000261835:p.Ser431Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.S431C	ENST00000261835.3	37	c.1292	CCDS9954.1	14	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376687	0.61735	.	.	ENSG00000036530	ENST00000261835;ENST00000423126;ENST00000554176	T;T;T	0.75367	-0.93;-0.93;-0.93	3.68	3.68	0.42216	Cytochrome P450, conserved site (1);	0.196730	0.44097	D	0.000486	D	0.83161	0.5194	M	0.80616	2.505	0.49798	D	0.999823	D;D	0.59767	0.986;0.976	P;P	0.60345	0.873;0.724	D	0.85688	0.1305	10	0.87932	D	0	.	11.6245	0.51136	0.0:1.0:0.0:0.0	.	268;431	Q8N2B0;Q9Y6A2	.;CP46A_HUMAN	C	431;334;268	ENSP00000261835:S431C;ENSP00000405779:S334C;ENSP00000450553:S268C	ENSP00000261835:S431C	S	+	2	0	CYP46A1	99262306	0.997000	0.39634	0.997000	0.53966	0.911000	0.54048	4.824000	0.62701	1.994000	0.58287	0.561000	0.74099	TCC	CYP46A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV		0.622	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP46A1	HGNC	protein_coding	OTTHUMT00000413814.1	C			100192553	+1	no_errors	ENST00000261835	ensembl	human	known	70_37	missense	SNP	1.000	G
CYTH1	9267	genome.wustl.edu	37	17	76672235	76672235	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr17:76672235C>A	ENST00000446868.3	-	14	1205	c.1135G>T	c.(1135-1137)Gac>Tac	p.D379Y	CYTH1_ENST00000589297.1_Missense_Mutation_p.D320Y|CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000361101.4_Missense_Mutation_p.D379Y|CYTH1_ENST00000591455.1_Missense_Mutation_p.D378Y|CYTH1_ENST00000585509.1_Missense_Mutation_p.D320Y|CYTH1_ENST00000589296.1_Intron			Q15438	CYH1_HUMAN	cytohesin 1	379					establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						TAGAAAGGGTCCCTGCTGATG	0.577																																																	0													75.0	57.0	63.0					17																	76672235		2203	4300	6503	SO:0001583	missense	9267			M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.1135G>T	17.37:g.76672235C>A	ENSP00000389095:p.Asp379Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.D379Y	ENST00000446868.3	37	c.1135		17	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034784	0.93575	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763	T;T	0.15487	2.42;2.42	5.08	5.08	0.68730	.	0.258930	0.42548	D	0.000681	T	0.44912	0.1316	M	0.78223	2.4	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.46219	-0.9207	10	0.72032	D	0.01	.	18.4292	0.90619	0.0:1.0:0.0:0.0	.	378	Q15438-2	.	Y	379;379;320;320;378	ENSP00000389095:D379Y;ENSP00000354398:D379Y	ENSP00000262763:D378Y	D	-	1	0	CYTH1	74183830	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.659000	0.83766	2.521000	0.84997	0.591000	0.81541	GAC	CYTH1	-	smart_Pleckstrin_homology		0.577	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CYTH1	HGNC	protein_coding	OTTHUMT00000317099.1	C	NM_004762		76672235	-1	no_errors	ENST00000361101	ensembl	human	known	70_37	missense	SNP	1.000	A
DCLRE1B	64858	genome.wustl.edu	37	1	114454370	114454370	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:114454370G>C	ENST00000369563.3	+	4	1602	c.1156G>C	c.(1156-1158)Gaa>Caa	p.E386Q	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	386					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCGGACCTTGAAAAGCAGCC	0.478								Other identified genes with known or suspected DNA repair function																																									0													84.0	88.0	87.0					1																	114454370		2203	4300	6503	SO:0001583	missense	64858			BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.1156G>C	1.37:g.114454370G>C	ENSP00000358576:p.Glu386Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9E5	Missense_Mutation	SNP	pfam_DRMBL	p.E386Q	ENST00000369563.3	37	c.1156	CCDS866.1	1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526548	0.27299	.	.	ENSG00000118655	ENST00000369563	T	0.75821	-0.97	5.73	-0.0392	0.13877	.	0.657186	0.14078	N	0.342935	T	0.32704	0.0838	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.15870	0.014	T	0.15321	-1.0441	10	0.31617	T	0.26	-11.5121	2.0204	0.03508	0.1926:0.3505:0.3234:0.1335	.	386	Q9H816	DCR1B_HUMAN	Q	386	ENSP00000358576:E386Q	ENSP00000358576:E386Q	E	+	1	0	DCLRE1B	114255893	0.018000	0.18449	0.100000	0.21137	0.099000	0.18886	0.401000	0.20948	0.028000	0.15324	-1.058000	0.02302	GAA	DCLRE1B	-	NULL		0.478	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1B	HGNC	protein_coding	OTTHUMT00000033020.2	G	NM_022836		114454370	+1	no_errors	ENST00000369563	ensembl	human	known	70_37	missense	SNP	0.017	C
DDX3X	1654	genome.wustl.edu	37	X	41205855	41205855	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:41205855C>T	ENST00000399959.2	+	14	2450	c.1595C>T	c.(1594-1596)aCg>aTg	p.T532M	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.T516M|RN7SL15P_ENST00000582825.1_RNA	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	532	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						ATTGGTCGTACGGGACGTGTA	0.378										HNSCC(61;0.18)																																							0													169.0	160.0	163.0					X																	41205855		2196	4299	6495	SO:0001583	missense	1654			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1595C>T	X.37:g.41205855C>T	ENSP00000382840:p.Thr532Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K538|B4E3E8|O15536	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.T532M	ENST00000399959.2	37	c.1595	CCDS43931.1	X	.	.	.	.	.	.	.	.	.	.	C	25.1	4.597947	0.87055	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.79247	-1.25;-1.25	5.22	5.22	0.72569	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.92146	0.7510	H	0.96333	3.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94750	0.7926	10	0.87932	D	0	-1.6425	17.9413	0.89027	0.0:1.0:0.0:0.0	.	516;544;532	B4E3E8;Q59GX6;O00571	.;.;DDX3X_HUMAN	M	532;516	ENSP00000382840:T532M;ENSP00000392494:T516M	ENSP00000382840:T532M	T	+	2	0	DDX3X	41090799	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.773000	0.85462	2.170000	0.68504	0.600000	0.82982	ACG	DDX3X	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.378	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	C	NM_024005		41205855	+1	no_errors	ENST00000399959	ensembl	human	known	70_37	missense	SNP	1.000	T
DIRC2	84925	genome.wustl.edu	37	3	122514354	122514354	+	Silent	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:122514354C>T	ENST00000261038.5	+	1	713	c.315C>T	c.(313-315)ttC>ttT	p.F105F	HSPBAP1_ENST00000465044.1_5'Flank|HSPBAP1_ENST00000383659.1_5'Flank|HSPBAP1_ENST00000306103.2_5'Flank	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	105					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TGCCCTGCTTCGCGTTCATGT	0.706																																																	0													18.0	20.0	19.0					3																	122514354		2202	4299	6501	SO:0001819	synonymous_variant	84925			AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.315C>T	3.37:g.122514354C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K561|Q8NBX9	Silent	SNP	superfamily_MFS_dom_general_subst_transpt	p.F105	ENST00000261038.5	37	c.315	CCDS3018.1	3																																																																																			DIRC2	-	superfamily_MFS_dom_general_subst_transpt		0.706	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRC2	HGNC	protein_coding	OTTHUMT00000356180.2	C	NM_032839		122514354	+1	no_errors	ENST00000261038	ensembl	human	known	70_37	silent	SNP	1.000	T
DLC1	10395	genome.wustl.edu	37	8	12990539	12990539	+	Intron	SNP	G	G	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr8:12990539G>T	ENST00000276297.4	-	6	1758				DLC1_ENST00000512044.2_Intron|DLC1_ENST00000358919.2_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein						actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGAGGCAGGCGGAGGCGGCTC	0.682																																																	0													22.0	18.0	19.0					8																	12990539		2189	4269	6458	SO:0001627	intron_variant	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1349-17373C>A	8.37:g.12990539G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	RNA	SNP	-	NULL	ENST00000276297.4	37	NULL	CCDS5989.1	8																																																																																			DLC1	-	-		0.682	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	G	NM_182643, NM_006094		12990539	-1	no_errors	ENST00000515225	ensembl	human	known	70_37	rna	SNP	0.027	T
DOCK6	57572	genome.wustl.edu	37	19	11323983	11323983	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr19:11323983C>T	ENST00000294618.7	-	35	4371	c.4360G>A	c.(4360-4362)Gag>Aag	p.E1454K	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.E793K	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1454					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TCCGTGTCCTCCTCGAACAGC	0.647																																																	0													29.0	37.0	34.0					19																	11323983		2181	4282	6463	SO:0001583	missense	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4360G>A	19.37:g.11323983C>T	ENSP00000294618:p.Glu1454Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N	p.E1454K	ENST00000294618.7	37	c.4360	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	C	33	5.215385	0.95104	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.62941	-0.01;-0.01	5.35	4.3	0.51218	.	0.052004	0.85682	D	0.000000	T	0.78886	0.4354	M	0.82823	2.61	0.58432	D	0.999998	D;P	0.69078	0.997;0.882	D;P	0.68765	0.96;0.521	T	0.82125	-0.0612	10	0.72032	D	0.01	-26.3223	13.3276	0.60469	0.0:0.9211:0.0:0.0789	.	793;1454	C9IZV6;Q96HP0	.;DOCK6_HUMAN	K	1454;793	ENSP00000294618:E1454K;ENSP00000321556:E793K	ENSP00000294618:E1454K	E	-	1	0	DOCK6	11184983	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.968000	0.70413	1.244000	0.43870	0.650000	0.86243	GAG	DOCK6	-	NULL		0.647	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	C	NM_020812		11323983	-1	no_errors	ENST00000294618	ensembl	human	known	70_37	missense	SNP	1.000	T
DPP8	54878	genome.wustl.edu	37	15	65759487	65759487	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr15:65759487G>C	ENST00000341861.5	-	13	3239	c.1659C>G	c.(1657-1659)taC>taG	p.Y553*	DPP8_ENST00000321147.6_Nonsense_Mutation_p.Y553*|DPP8_ENST00000300141.6_Nonsense_Mutation_p.Y537*|DPP8_ENST00000321118.7_Nonsense_Mutation_p.Y553*|DPP8_ENST00000339244.5_Nonsense_Mutation_p.Y380*|DPP8_ENST00000358939.4_Nonsense_Mutation_p.Y537*|DPP8_ENST00000559233.1_Nonsense_Mutation_p.Y553*	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	553					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AACTGACTACGTACAGGTGAT	0.418																																																	0													122.0	112.0	115.0					15																	65759487		2201	4299	6500	SO:0001587	stop_gained	54878			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1659C>G	15.37:g.65759487G>C	ENSP00000339208:p.Tyr553*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Nonsense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.Y553*	ENST00000341861.5	37	c.1659	CCDS10207.1	15	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992466	0.74703	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	.	.	.	5.56	-7.23	0.01480	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8115	18.3586	0.90367	0.7123:0.0:0.2877:0.0	.	.	.	.	X	553;537;537;553;553;380;553	.	ENSP00000300141:Y537X	Y	-	3	2	DPP8	63546540	0.005000	0.15991	0.563000	0.28383	0.751000	0.42716	-1.069000	0.03444	-1.542000	0.01725	-0.444000	0.05651	TAC	DPP8	-	pfam_Peptidase_S9B		0.418	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPP8	HGNC	protein_coding	OTTHUMT00000256847.1	G	NM_017743		65759487	-1	no_errors	ENST00000341861	ensembl	human	known	70_37	nonsense	SNP	0.289	C
TDRD15	100129278	genome.wustl.edu	37	2	21365697	21365697	+	Silent	SNP	T	T	C			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:21365697T>C	ENST00000405799.1	+	4	5688	c.5358T>C	c.(5356-5358)agT>agC	p.S1786S				B5MCY1	TDR15_HUMAN	tudor domain containing 15	1786	Tudor 8. {ECO:0000255|PROSITE- ProRule:PRU00211}.						hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)										CCGGTTCTAGTTGTTTGTTCA	0.348																																																	0																																										SO:0001819	synonymous_variant	0					2p24.1	2013-01-23	2013-01-23	2013-01-23	ENSG00000218819	ENSG00000218819		"""Tudor domain containing"""	45037	protein-coding gene	gene with protein product							Standard	XR_425376		Approved			B5MCY1	OTTHUMG00000151795	ENST00000405799.1:c.5358T>C	2.37:g.21365697T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor	p.S1786	ENST00000405799.1	37	c.5358		2																																																																																			AC010872.2	-	pfam_Tudor,smart_Tudor		0.348	TDRD15-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	ENSG00000218819	Clone_based_vega_gene	protein_coding	OTTHUMT00000323948.1	T			21365697	+1	no_errors	ENST00000405799	ensembl	human	novel	70_37	silent	SNP	0.984	C
SNORA11	677799	genome.wustl.edu	37	14	70270921	70270922	+	RNA	INS	-	-	T	rs566317626|rs200703304		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr14:70270921_70270922insT	ENST00000408133.1	-	0	126_127									small nucleolar RNA, H/ACA box 11																		CATGGATTCTCTTTTTTTTTTT	0.351																																																	0																																												0			AM055729		Xp11.21	2013-09-05			ENSG00000221716	ENSG00000221716		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	32599	non-coding RNA	RNA, small nucleolar	"""small nucleolar RNA, H/ACA box 11A"""	300662				16361266, 16381836	Standard	NR_002953		Approved	U107, SNORA11A	uc021ptl.1				14.37:g.70270932_70270932dupT		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000408133.1	37	NULL		14																																																																																			SNORA11	-	-		0.351	SNORA11.1-201	NOVEL	basic	snoRNA	ENSG00000221060	RFAM	snoRNA		-	NR_002953		70270922	-1	no_errors	ENST00000408133	ensembl	human	novel	70_37	rna	INS	0.001:0.003	T
KCNE1	3753	genome.wustl.edu	37	21	35828429	35828429	+	Intron	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr21:35828429G>A	ENST00000337385.3	-	2	326				KCNE1_ENST00000399286.2_Intron|SNORA11_ENST00000408471.1_RNA|KCNE1_ENST00000399289.3_Intron|KCNE1_ENST00000416357.2_5'Flank|KCNE1_ENST00000399284.1_Intron|KCNE1_ENST00000432085.1_Intron	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1						cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	ATTTGTTCACGGGGAGGCCAC	0.542																																																	0																																										SO:0001627	intron_variant	0			L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"""Potassium channels"""	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.49+2522C>T	21.37:g.35828429G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5H1P2|Q8N709|Q91Z94	RNA	SNP	-	NULL	ENST00000337385.3	37	NULL	CCDS13636.1	21																																																																																			SNORA11	-	-		0.542	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221398	RFAM	protein_coding	OTTHUMT00000194155.1	G			35828429	-1	no_errors	ENST00000408471	ensembl	human	novel	70_37	rna	SNP	0.017	A
RP11-764K9.1	0	genome.wustl.edu	37	9	68400475	68400475	+	lincRNA	SNP	T	T	G	rs75317582	byFrequency	TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr9:68400475T>G	ENST00000417843.2	-	0	1344																											CAGGCCACAGTGTGGACtgtt	0.488																																																	0																																												0																															9.37:g.68400475T>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000417843.2	37	NULL		9																																																																																			RP11-764K9.1	-	-		0.488	RP11-764K9.1-001	KNOWN	basic	lincRNA	ENSG00000225411	Clone_based_vega_gene	lincRNA	OTTHUMT00000129817.2	T			68400475	-1	no_errors	ENST00000417843	ensembl	human	known	70_37	rna	SNP	0.010	G
NAV1	89796	genome.wustl.edu	37	1	201693999	201693999	+	Intron	SNP	G	G	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:201693999G>T	ENST00000367296.4	+	3	1646				RP11-90L20.2_ENST00000429443.1_RNA|NAV1_ENST00000367302.1_Intron|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Intron|NAV1_ENST00000367297.4_Intron|NAV1_ENST00000295624.6_Intron	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1						microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GTGCTTGGGGGCTCAGAACAG	0.517																																																	0																																										SO:0001627	intron_variant	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1226+6116G>T	1.37:g.201693999G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	RNA	SNP	-	NULL	ENST00000367296.4	37	NULL	CCDS1414.2	1																																																																																			RP11-90L20.2	-	-		0.517	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000235121	Clone_based_vega_gene	protein_coding	OTTHUMT00000087013.1	G	NM_020443		201693999	-1	no_errors	ENST00000429443	ensembl	human	known	70_37	rna	SNP	0.972	T
KMT2E	55904	genome.wustl.edu	37	7	104654142	104654142	+	5'Flank	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr7:104654142C>T	ENST00000311117.3	+	0	0				KMT2E-AS1_ENST00000453677.1_RNA|KMT2E_ENST00000334914.7_5'Flank|KMT2E_ENST00000334877.4_5'Flank|LINC01004_ENST00000450686.1_RNA|KMT2E-AS1_ENST00000585013.1_RNA|KMT2E_ENST00000257745.4_5'Flank|LINC01004_ENST00000445184.1_RNA|KMT2E_ENST00000476671.1_5'Flank	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E						cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ACACCCCAACCGGGTTCACCC	0.662											OREG0018246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001631	upstream_gene_variant	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403		7.37:g.104654142C>T	Exception_encountered	Somatic	1383	WXS	Illumina HiSeq	Phase_IV	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	RNA	SNP	-	NULL	ENST00000311117.3	37	NULL	CCDS34723.1	7																																																																																			RP11-325F22.4	-	-		0.662	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000239569	Clone_based_vega_gene	protein_coding	OTTHUMT00000348697.1	C			104654142	-1	no_errors	ENST00000453677	ensembl	human	known	70_37	rna	SNP	0.993	T
SPDYC	387778	genome.wustl.edu	37	11	64943049	64943050	+	IGR	INS	-	-	T	rs529153118|rs185303412		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr11:64943049_64943050insT	ENST00000377185.2	+	0	991				AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						cgcccggctaattttttttttg	0.525																																																	0																																										SO:0001628	intergenic_variant	0			AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611		11.37:g.64943059_64943059dupT		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000377185.2	37	NULL	CCDS31606.1	11																																																																																			AP003068.18	-	-		0.525	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000255200	Clone_based_vega_gene	protein_coding	OTTHUMT00000385299.1	-	NM_001008778		64943050	-1	no_errors	ENST00000534819	ensembl	human	known	70_37	rna	INS	0.991:0.969	T
PRPH	5630	genome.wustl.edu	37	12	49690068	49690068	+	Intron	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr12:49690068C>T	ENST00000257860.4	+	2	2105				RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin						cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						CCGCTACCCCCGATCTCAGTA	0.652																																																	0													22.0	24.0	23.0					12																	49690068		2203	4299	6502	SO:0001627	intron_variant	0				CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.606+47C>T	12.37:g.49690068C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TFH5|Q6DK65	RNA	SNP	-	NULL	ENST00000257860.4	37	NULL	CCDS8783.1	12																																																																																			RP11-161H23.9	-	-		0.652	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258334	Clone_based_vega_gene	protein_coding	OTTHUMT00000393381.1	C	NM_006262		49690068	-1	no_errors	ENST00000553259	ensembl	human	known	70_37	rna	SNP	0.000	T
DNM1P47	100216544	genome.wustl.edu	37	15	102313076	102313076	+	RNA	SNP	C	C	G			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr15:102313076C>G	ENST00000561463.1	+	0	14444				RN7SL209P_ENST00000488309.2_RNA					DNM1 pseudogene 47																		CTTGGGGTCTCAGAGAGTGCA	0.527																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102313076C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			CTD-2611K5.6	-	-		0.527	DNM1P47-001	KNOWN	basic	processed_transcript	ENSG00000259660	Clone_based_vega_gene	pseudogene	OTTHUMT00000417589.1	C	NG_009149		102313076	+1	no_errors	ENST00000560757	ensembl	human	known	70_37	rna	SNP	0.001	G
SARDH	1757	genome.wustl.edu	37	9	136568062	136568062	+	Silent	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr9:136568062G>A	ENST00000371872.4	-	13	1901	c.1644C>T	c.(1642-1644)ttC>ttT	p.F548F	SARDH_ENST00000439388.1_Silent_p.F548F|SARDH_ENST00000371868.1_5'UTR|SARDH_ENST00000422262.2_Silent_p.F380F	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	548					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCGGGAAGGCGAAGGTGTACT	0.662																																																	0													65.0	59.0	61.0					9																	136568062		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1644C>T	9.37:g.136568062G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	NULL	p.R153Q	ENST00000371872.4	37	c.458	CCDS6978.1	9																																																																																			AL590710.2	-	NULL		0.662	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000269369	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000054931.1	G			136568062	+1	no_errors	ENST00000601113	ensembl	human	known	70_37	missense	SNP	0.998	A
EPS15	2060	genome.wustl.edu	37	1	51910614	51910614	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:51910614G>C	ENST00000371733.3	-	11	997	c.901C>G	c.(901-903)Cac>Gac	p.H301D	EPS15_ENST00000371730.2_Missense_Mutation_p.H301D	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	301	EH 3. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GTAAGAACGTGAGGAGGATCA	0.398			T	MLL	ALL																																			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	1	Whole gene deletion(1)	central_nervous_system(1)											186.0	171.0	176.0					1																	51910614		2203	4300	6503	SO:0001583	missense	2060			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.901C>G	1.37:g.51910614G>C	ENSP00000360798:p.His301Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.H301D	ENST00000371733.3	37	c.901	CCDS557.1	1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143851	0.57044	.	.	ENSG00000085832	ENST00000371730;ENST00000371733	T;T	0.27402	1.67;1.67	5.39	5.39	0.77823	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.249770	0.20884	N	0.083959	T	0.16981	0.0408	N	0.04043	-0.29	0.80722	D	1	P;B	0.39576	0.679;0.05	B;B	0.37387	0.248;0.031	T	0.12630	-1.0540	10	0.13108	T	0.6	.	19.5302	0.95226	0.0:0.0:1.0:0.0	.	301;301	B1AUU8;P42566	.;EPS15_HUMAN	D	301	ENSP00000360795:H301D;ENSP00000360798:H301D	ENSP00000360795:H301D	H	-	1	0	EPS15	51683202	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.517000	0.67061	2.689000	0.91719	0.655000	0.94253	CAC	EPS15	-	smart_EPS15_homology,pfscan_EPS15_homology		0.398	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	HGNC	protein_coding	OTTHUMT00000022422.1	G	NM_001981		51910614	-1	no_errors	ENST00000371733	ensembl	human	known	70_37	missense	SNP	1.000	C
FAM171A1	221061	genome.wustl.edu	37	10	15255565	15255565	+	Silent	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr10:15255565G>A	ENST00000378116.4	-	8	2028	c.2022C>T	c.(2020-2022)aaC>aaT	p.N674N	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	674						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AAGCCGCGTCGTTCAGGGAAG	0.632																																																	0													58.0	62.0	60.0					10																	15255565		2203	4300	6503	SO:0001819	synonymous_variant	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2022C>T	10.37:g.15255565G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRT9|Q32M49|Q8N4I0	Silent	SNP	pfam_Uncharacterised_FAM171	p.N674	ENST00000378116.4	37	c.2022	CCDS31154.1	10																																																																																			FAM171A1	-	pfam_Uncharacterised_FAM171		0.632	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	G	XM_167709		15255565	-1	no_errors	ENST00000378116	ensembl	human	known	70_37	silent	SNP	0.932	A
FAM208A	23272	genome.wustl.edu	37	3	56667374	56667374	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:56667374C>A	ENST00000493960.2	-	18	3455	c.3445G>T	c.(3445-3447)Gag>Tag	p.E1149*	FAM208A_ENST00000431842.2_Nonsense_Mutation_p.E712*|FAM208A_ENST00000355628.5_Nonsense_Mutation_p.E1088*	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1149							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GAATGCTGCTCATCAGAGTTG	0.418																																																	0													166.0	156.0	159.0					3																	56667374		2203	4300	6503	SO:0001587	stop_gained	23272			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3445G>T	3.37:g.56667374C>A	ENSP00000417509:p.Glu1149*	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Nonsense_Mutation	SNP	pfam_DUF3715	p.E1088*	ENST00000493960.2	37	c.3262	CCDS46853.1	3	.	.	.	.	.	.	.	.	.	.	C	43	10.377506	0.99394	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	.	.	.	5.71	5.71	0.89125	.	0.177336	0.40144	N	0.001172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-5.9043	20.2245	0.98337	0.0:1.0:0.0:0.0	.	.	.	.	X	712;1149;1088	.	ENSP00000347845:E1088X	E	-	1	0	C3orf63	56642414	0.987000	0.35691	0.984000	0.44739	0.980000	0.70556	2.776000	0.47709	2.861000	0.98227	0.650000	0.86243	GAG	FAM208A	-	NULL		0.418	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	C	NM_015224		56667374	-1	no_errors	ENST00000355628	ensembl	human	known	70_37	nonsense	SNP	0.996	A
FGF22	27006	genome.wustl.edu	37	19	643436	643436	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr19:643436C>G	ENST00000215530.5	+	3	376	c.345C>G	c.(343-345)ttC>ttG	p.F115L	FGF22_ENST00000166133.3_Missense_Mutation_p.F74L|FGF22_ENST00000586042.2_Missense_Mutation_p.P108A	NM_020637.1	NP_065688.1	Q9HCT0	FGF22_HUMAN	fibroblast growth factor 22	115					cell differentiation (GO:0030154)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)				endometrium(1)|lung(1)|prostate(1)	3		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGCAGGTTCCGGGAGCGCA	0.741																																																	0													24.0	24.0	24.0					19																	643436		2198	4292	6490	SO:0001583	missense	27006				CCDS12037.1, CCDS74241.1	19p13.3	2008-07-04				ENSG00000070388			3679	protein-coding gene	gene with protein product		605831				15260994, 16597617	Standard	NM_020637		Approved		uc010xfq.2	Q9HCT0		ENST00000215530.5:c.345C>G	19.37:g.643436C>G	ENSP00000215530:p.Phe115Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPH4	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.F115L	ENST00000215530.5	37	c.345	CCDS12037.1	19	.	.	.	.	.	.	.	.	.	.	c	22.0	4.233672	0.79688	.	.	ENSG00000070388	ENST00000215530;ENST00000166133	D;D	0.94330	-3.4;-3.4	4.45	3.39	0.38822	.	0.000000	0.85682	D	0.000000	D	0.92551	0.7634	M	0.82193	2.58	0.50039	D	0.999847	B	0.27910	0.193	B	0.32022	0.139	D	0.90741	0.4650	10	0.36615	T	0.2	.	10.2056	0.43112	0.0:0.9032:0.0:0.0968	.	115	Q9HCT0	FGF22_HUMAN	L	115;74	ENSP00000215530:F115L;ENSP00000166133:F74L	ENSP00000166133:F74L	F	+	3	2	FGF22	594436	0.998000	0.40836	1.000000	0.80357	0.955000	0.61496	1.259000	0.32956	2.022000	0.59522	0.549000	0.68633	TTC	FGF22	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF		0.741	FGF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF22	HGNC	protein_coding	OTTHUMT00000452103.1	C			643436	+1	no_errors	ENST00000215530	ensembl	human	known	70_37	missense	SNP	1.000	G
FHOD1	29109	genome.wustl.edu	37	16	67268278	67268278	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr16:67268278C>T	ENST00000258201.4	-	12	1664	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	473					positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCACCCGCCTCATTGGGCATG	0.642																																																	0													24.0	26.0	25.0					16																	67268278		2198	4300	6498	SO:0001583	missense	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.1417G>A	16.37:g.67268278C>T	ENSP00000258201:p.Glu473Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.E473K	ENST00000258201.4	37	c.1417	CCDS10834.1	16	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532459	0.27387	.	.	ENSG00000135723	ENST00000258201	T	0.25579	1.79	5.18	5.18	0.71444	.	0.550992	0.18150	N	0.150138	T	0.20129	0.0484	N	0.19112	0.55	0.26337	N	0.977425	P;P	0.46784	0.884;0.455	P;B	0.46419	0.516;0.091	T	0.06127	-1.0844	10	0.08381	T	0.77	.	14.2095	0.65755	0.0:1.0:0.0:0.0	.	52;473	B4DVN5;Q9Y613	.;FHOD1_HUMAN	K	473	ENSP00000258201:E473K	ENSP00000258201:E473K	E	-	1	0	FHOD1	65825779	1.000000	0.71417	0.066000	0.19879	0.014000	0.08584	4.184000	0.58323	2.418000	0.82041	0.455000	0.32223	GAG	FHOD1	-	NULL		0.642	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	C			67268278	-1	no_errors	ENST00000258201	ensembl	human	known	70_37	missense	SNP	0.578	T
FLJ12825	440101	genome.wustl.edu	37	12	54515302	54515302	+	lincRNA	SNP	T	T	C	rs139731963		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr12:54515302T>C	ENST00000515617.1	+	0	3226				RP11-834C11.5_ENST00000508763.1_RNA	NR_026655.1																						aggacatgcttgcctcacatt	0.512																																																	0																																												440101																															12.37:g.54515302T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000515617.1	37	NULL		12																																																																																			RP11-834C11.3	-	-		0.512	RP11-834C11.3-001	KNOWN	basic	lincRNA	FLJ12825	Clone_based_vega_gene	lincRNA	OTTHUMT00000358961.1	T			54515302	+1	no_errors	ENST00000515617	ensembl	human	known	70_37	rna	SNP	0.000	C
FREM3	166752	genome.wustl.edu	37	4	144618077	144618077	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr4:144618077G>T	ENST00000329798.5	-	1	3751	c.3752C>A	c.(3751-3753)cCc>cAc	p.P1251H		NM_001168235.1	NP_001161707.1	P0C091	FREM3_HUMAN	FRAS1 related extracellular matrix 3	1251					cell adhesion (GO:0007155)|cell communication (GO:0007154)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	8						GCTGTGGATGGGCTGGCTGCC	0.547																																																	0													142.0	123.0	129.0					4																	144618077		692	1591	2283	SO:0001583	missense	166752			BX091796	CCDS54808.1	4q31.21	2011-06-09			ENSG00000183090	ENSG00000183090			25172	protein-coding gene	gene with protein product		608946				15345741	Standard	NM_001168235		Approved		uc021xsj.1	P0C091	OTTHUMG00000161577	ENST00000329798.5:c.3752C>A	4.37:g.144618077G>T	ENSP00000332886:p.Pro1251His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.P1251H	ENST00000329798.5	37	c.3752	CCDS54808.1	4	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067610	0.36470	.	.	ENSG00000183090	ENST00000329798	T	0.51817	0.69	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.93016	3.37	0.58432	D	0.999996	.	.	.	.	.	.	T	0.76421	-0.2965	8	0.62326	D	0.03	-8.1754	10.0983	0.42488	0.0981:0.0:0.9019:0.0	.	.	.	.	H	1251	ENSP00000332886:P1251H	ENSP00000332886:P1251H	P	-	2	0	FREM3	144837527	0.958000	0.32768	0.758000	0.31321	0.311000	0.27955	1.782000	0.38654	2.229000	0.72834	0.655000	0.94253	CCC	FREM3	-	superfamily_Cadherin-like		0.547	FREM3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	FREM3	HGNC	protein_coding	OTTHUMT00000365391.1	G	XM_094074		144618077	-1	no_errors	ENST00000329798	ensembl	human	putative	70_37	missense	SNP	0.984	T
FRMD3	257019	genome.wustl.edu	37	9	85863188	85863188	+	Missense_Mutation	SNP	G	G	T	rs572422981		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr9:85863188G>T	ENST00000304195.3	-	14	1645	c.1439C>A	c.(1438-1440)aCa>aAa	p.T480K	FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376434.1_Missense_Mutation_p.T286K|FRMD3_ENST00000328788.1_Missense_Mutation_p.T137K|FRMD3_ENST00000376438.1_Missense_Mutation_p.T480K	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	480						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AAATGAATCTGTGTCTTCTCT	0.498																																																	0													167.0	162.0	164.0					9																	85863188		1972	4155	6127	SO:0001583	missense	257019			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1439C>A	9.37:g.85863188G>T	ENSP00000303508:p.Thr480Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.T480K	ENST00000304195.3	37	c.1439	CCDS43840.1	9	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580684	0.46006	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.86097	-1.66;-2.07;0.68;-1.65	5.72	3.84	0.44239	.	0.217554	0.48767	D	0.000170	D	0.87188	0.6115	L	0.59436	1.845	0.46798	D	0.999205	P;B;D	0.76494	0.842;0.435;0.999	B;B;D	0.64877	0.185;0.157;0.93	D	0.83615	0.0136	10	0.06625	T	0.88	.	11.6847	0.51479	0.1477:0.0:0.8523:0.0	.	480;480;137	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	K	480;286;137;480	ENSP00000365621:T480K;ENSP00000365617:T286K;ENSP00000328615:T137K;ENSP00000303508:T480K	ENSP00000303508:T480K	T	-	2	0	FRMD3	85053008	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.342000	0.59341	0.726000	0.32339	0.655000	0.94253	ACA	FRMD3	-	NULL		0.498	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	HGNC	protein_coding	OTTHUMT00000157355.1	G	NM_174938		85863188	-1	no_errors	ENST00000304195	ensembl	human	known	70_37	missense	SNP	0.998	T
FRYL	285527	genome.wustl.edu	37	4	48552714	48552714	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr4:48552714G>T	ENST00000503238.1	-	35	4527	c.4528C>A	c.(4528-4530)Cac>Aac	p.H1510N	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.H1510N|FRYL_ENST00000507711.1_Missense_Mutation_p.H1510N|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.H1510N			O94915	FRYL_HUMAN	FRY-like	1510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATGTCCAGGTGCACATAGCTA	0.408																																																	0													151.0	138.0	142.0					4																	48552714		1949	4140	6089	SO:0001583	missense	285527			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4528C>A	4.37:g.48552714G>T	ENSP00000426064:p.His1510Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.H1510N	ENST00000503238.1	37	c.4528	CCDS43227.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.65|14.65	2.599533|2.599533	0.46318|0.46318	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000514617|ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	.|T;T;T;T	.|0.43294	.|2.02;2.02;2.02;0.95	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52725|0.52725	0.1752|0.1752	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|P;D;D;D	.|0.61080	.|0.851;0.981;0.981;0.989	.|P;D;D;D	.|0.72982	.|0.775;0.954;0.954;0.979	T|T	0.38520|0.38520	-0.9657|-0.9657	5|10	.|0.19147	.|T	.|0.46	.|.	19.4662|19.4662	0.94943|0.94943	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1510;341;1510;1510	.|F2Z2S2;Q6ZR29;O94915;F5GX82	.|.;.;FRYL_HUMAN;.	E|N	380|1510	.|ENSP00000426064:H1510N;ENSP00000351113:H1510N;ENSP00000441114:H1510N;ENSP00000421584:H1510N	.|ENSP00000351113:H1510N	A|H	-|-	2|1	0|0	FRYL|FRYL	48247471|48247471	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.119000|0.119000	0.20118|0.20118	9.194000|9.194000	0.94962|0.94962	2.582000|2.582000	0.87167|0.87167	0.655000|0.655000	0.94253|0.94253	GCA|CAC	FRYL	-	superfamily_ARM-type_fold		0.408	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	G			48552714	-1	no_errors	ENST00000358350	ensembl	human	known	70_37	missense	SNP	1.000	T
GLP1R	2740	genome.wustl.edu	37	6	39034011	39034011	+	Silent	SNP	C	C	T	rs199790397		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr6:39034011C>T	ENST00000373256.4	+	5	484	c.441C>T	c.(439-441)atC>atT	p.I147I		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	147					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)	p.I147I(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	TCTACATCATCTACACGGTGG	0.617																																																	1	Substitution - coding silent(1)	large_intestine(1)											155.0	115.0	129.0					6																	39034011		2203	4300	6503	SO:0001819	synonymous_variant	2740				CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.441C>T	6.37:g.39034011C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M229|Q99669	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt	p.I147	ENST00000373256.4	37	c.441	CCDS4839.1	6																																																																																			GLP1R	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like		0.617	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP1R	HGNC	protein_coding	OTTHUMT00000040443.1	C			39034011	+1	no_errors	ENST00000373256	ensembl	human	known	70_37	silent	SNP	1.000	T
GLYR1	84656	genome.wustl.edu	37	16	4861264	4861264	+	Missense_Mutation	SNP	G	G	C	rs150744754		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr16:4861264G>C	ENST00000321919.9	-	15	1570	c.1494C>G	c.(1492-1494)ttC>ttG	p.F498L	GLYR1_ENST00000436648.5_Missense_Mutation_p.F417L|GLYR1_ENST00000381983.3_Missense_Mutation_p.F481L|GLYR1_ENST00000591451.1_Missense_Mutation_p.F492L	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	498					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						ATTTCAGGTAGAAATCAGGCT	0.473																																																	0													148.0	138.0	141.0					16																	4861264		2197	4300	6497	SO:0001583	missense	84656			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1494C>G	16.37:g.4861264G>C	ENSP00000322716:p.Phe498Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP	p.F498L	ENST00000321919.9	37	c.1494	CCDS10524.1	16	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470701	0.43942	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.43688	0.94;0.94;0.94	5.72	5.72	0.89469	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.048803	0.85682	D	0.000000	T	0.41743	0.1172	M	0.66506	2.035	0.58432	D	0.999993	B;B;P;B	0.39376	0.38;0.334;0.67;0.273	B;B;B;B	0.41440	0.273;0.105;0.357;0.078	T	0.20042	-1.0287	10	0.09843	T	0.71	-13.362	12.0399	0.53446	0.0801:0.0:0.9199:0.0	.	417;492;481;498	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	L	498;481;417	ENSP00000322716:F498L;ENSP00000371413:F481L;ENSP00000390276:F417L	ENSP00000322716:F498L	F	-	3	2	GLYR1	4801265	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.026000	0.57232	2.700000	0.92200	0.561000	0.74099	TTC	GLYR1	-	superfamily_6-PGluconate_DH_C-like		0.473	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLYR1	HGNC	protein_coding	OTTHUMT00000251717.2	G	NM_032569		4861264	-1	no_errors	ENST00000321919	ensembl	human	known	70_37	missense	SNP	1.000	C
GPD1L	23171	genome.wustl.edu	37	3	32200396	32200396	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:32200396G>T	ENST00000282541.5	+	6	848	c.647G>T	c.(646-648)tGc>tTc	p.C216F		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	216					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophospholipid biosynthetic process (GO:0046474)|NAD metabolic process (GO:0019674)|NADH metabolic process (GO:0006734)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase C signaling (GO:0090038)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|ventricular cardiac muscle cell action potential (GO:0086005)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|plasma membrane (GO:0005886)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|ion channel binding (GO:0044325)|NAD binding (GO:0051287)|sodium channel regulator activity (GO:0017080)			large_intestine(4)|lung(7)|ovary(1)	12						GCTGGGTTCTGCGACGGCCTC	0.572																																																	0													50.0	51.0	51.0					3																	32200396		2203	4300	6503	SO:0001583	missense	23171			D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642			28956	protein-coding gene	gene with protein product		611778				7788527	Standard	NM_015141		Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.647G>T	3.37:g.32200396G>T	ENSP00000282541:p.Cys216Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9U3|Q14702|Q9BRM5	Missense_Mutation	SNP	pfam_G3P_DH_NAD-dep_C,pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk	p.C216F	ENST00000282541.5	37	c.647	CCDS33729.1	3	.	.	.	.	.	.	.	.	.	.	g	13.06	2.125839	0.37533	.	.	ENSG00000152642	ENST00000282541;ENST00000425459	T;T	0.63096	-0.02;-0.02	5.45	5.45	0.79879	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);Glycerol-3-phosphate dehydrogenase, NAD-dependent, C-terminal (1);	0.133960	0.64402	D	0.000001	T	0.80681	0.4669	H	0.96080	3.765	0.80722	D	1	P	0.40834	0.73	P	0.45794	0.493	D	0.86450	0.1772	10	0.87932	D	0	-22.0813	19.3028	0.94150	0.0:0.0:1.0:0.0	.	216	Q8N335	GPD1L_HUMAN	F	216;169	ENSP00000282541:C216F;ENSP00000408770:C169F	ENSP00000282541:C216F	C	+	2	0	GPD1L	32175400	1.000000	0.71417	0.797000	0.32132	0.066000	0.16364	7.754000	0.85163	2.555000	0.86185	0.479000	0.44913	TGC	GPD1L	-	pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk		0.572	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD1L	HGNC	protein_coding	OTTHUMT00000341975.2	G	NM_015141		32200396	+1	no_errors	ENST00000282541	ensembl	human	known	70_37	missense	SNP	1.000	T
GP5	2814	genome.wustl.edu	37	3	194117596	194117596	+	Silent	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:194117596G>A	ENST00000401815.1	-	1	1487	c.1416C>T	c.(1414-1416)tgC>tgT	p.C472C	GP5_ENST00000323007.3_Silent_p.C472C			P40197	GPV_HUMAN	glycoprotein V (platelet)	472	LRRCT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		gggggcccgggcACTCCGCGT	0.771																																																	0													9.0	12.0	11.0					3																	194117596		2049	4098	6147	SO:0001819	synonymous_variant	2814			L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.1416C>T	3.37:g.194117596G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D1MER9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.C472	ENST00000401815.1	37	c.1416	CCDS3307.1	3																																																																																			GP5	-	smart_Cys-rich_flank_reg_C		0.771	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GP5	HGNC	protein_coding	OTTHUMT00000317710.1	G	NM_004488		194117596	-1	no_errors	ENST00000323007	ensembl	human	known	70_37	silent	SNP	0.360	A
GPR50	9248	genome.wustl.edu	37	X	150349573	150349573	+	Silent	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:150349573C>T	ENST00000218316.3	+	2	1587	c.1518C>T	c.(1516-1518)atC>atT	p.I506I	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	506	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGCCACATCAAGCCAGCTA	0.607																																																	0													86.0	99.0	95.0					X																	150349573		2116	4204	6320	SO:0001819	synonymous_variant	9248			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1518C>T	X.37:g.150349573C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VGG3|Q3ZAR0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt	p.I506	ENST00000218316.3	37	c.1518	CCDS44012.1	X																																																																																			GPR50	-	NULL		0.607	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR50	HGNC	protein_coding	OTTHUMT00000060874.1	C	NM_004224		150349573	+1	no_errors	ENST00000218316	ensembl	human	known	70_37	silent	SNP	0.000	T
C5AR2	27202	genome.wustl.edu	37	19	47844948	47844948	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr19:47844948C>G	ENST00000595464.1	+	2	1110	c.892C>G	c.(892-894)Caa>Gaa	p.Q298E	C5AR2_ENST00000257267.2_Missense_Mutation_p.Q298E|C5AR2_ENST00000600626.1_Missense_Mutation_p.Q298E	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	298					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										TGGGAGGGCTCAACTCCGCCG	0.627																																																	0													52.0	48.0	50.0					19																	47844948		2203	4300	6503	SO:0001583	missense	27202			AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.892C>G	19.37:g.47844948C>G	ENSP00000472620:p.Gln298Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA09	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_C5A_anaphtx_rcpt	p.Q298E	ENST00000595464.1	37	c.892	CCDS12699.1	19	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752420	0.31046	.	.	ENSG00000134830	ENST00000257267	T	0.36878	1.23	3.86	3.86	0.44501	.	0.350167	0.28641	U	0.014622	T	0.24314	0.0589	L	0.27053	0.805	0.25178	N	0.990229	B	0.31026	0.304	B	0.24974	0.057	T	0.23797	-1.0178	10	0.59425	D	0.04	.	11.4837	0.50342	0.0:1.0:0.0:0.0	.	298	Q9P296	C5ARL_HUMAN	E	298	ENSP00000257267:Q298E	ENSP00000257267:Q298E	Q	+	1	0	GPR77	52536788	0.001000	0.12720	0.030000	0.17652	0.502000	0.33828	1.472000	0.35376	2.146000	0.66826	0.313000	0.20887	CAA	GPR77	-	prints_GPCR_Rhodpsn		0.627	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR77	HGNC	protein_coding	OTTHUMT00000466926.1	C	NM_018485		47844948	+1	no_errors	ENST00000257267	ensembl	human	known	70_37	missense	SNP	0.581	G
GRIA3	2892	genome.wustl.edu	37	X	122336583	122336583	+	Intron	SNP	C	C	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:122336583C>A	ENST00000371251.1	+	2	320				GRIA3_ENST00000541091.1_Intron|GRIA3_ENST00000371266.1_Missense_Mutation_p.L122I|GRIA3_ENST00000479118.1_Intron|GRIA3_ENST00000371256.5_Intron|GRIA3_ENST00000542149.1_Intron|GRIA3_ENST00000371264.3_Missense_Mutation_p.L122I|GRIA3_ENST00000264357.5_Intron			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GCTGCTGCACCTAAAATGTTC	0.522																																																	0																																										SO:0001627	intron_variant	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.268+16741C>A	X.37:g.122336583C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	NULL	p.L122I	ENST00000371251.1	37	c.364	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350325	0.41599	.	.	ENSG00000125675	ENST00000371266;ENST00000371264;ENST00000335161	.	.	.	4.13	1.39	0.22231	.	.	.	.	.	T	0.21022	0.0506	.	.	.	0.09310	N	1	B	0.33612	0.419	B	0.26864	0.074	T	0.23368	-1.0190	7	0.87932	D	0	.	2.1649	0.03834	0.1929:0.4864:0.2064:0.1142	.	122	Q4TT43	.	I	122	.	ENSP00000335428:L122I	L	+	1	2	GRIA3	122164264	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.559000	0.23485	0.164000	0.19529	0.538000	0.68166	CTA	GRIA3	-	NULL		0.522	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	C	NM_000828		122336583	+1	no_errors	ENST00000371264	ensembl	human	known	70_37	missense	SNP	0.000	A
GRM7	2917	genome.wustl.edu	37	3	7348315	7348315	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:7348315C>G	ENST00000357716.4	+	4	1283	c.1009C>G	c.(1009-1011)Cag>Gag	p.Q337E	GRM7_ENST00000389336.4_Missense_Mutation_p.Q337E|GRM7_ENST00000403881.1_Missense_Mutation_p.Q337E|GRM7_ENST00000486284.1_Missense_Mutation_p.Q337E|GRM7_ENST00000402647.2_Missense_Mutation_p.Q337E	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	337					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CATCACCATTCAGCCCAAGCG	0.507																																																	0													98.0	96.0	97.0					3																	7348315		2203	4300	6503	SO:0001583	missense	2917			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1009C>G	3.37:g.7348315C>G	ENSP00000350348:p.Gln337Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.Q337E	ENST00000357716.4	37	c.1009	CCDS43042.1	3	.	.	.	.	.	.	.	.	.	.	C	7.022	0.558819	0.13436	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.74	4.81	0.61882	Extracellular ligand-binding receptor (1);	0.329365	0.28630	N	0.014661	T	0.67571	0.2907	N	0.04746	-0.17	0.31759	N	0.633584	B;B;B	0.28419	0.024;0.029;0.211	B;B;B	0.31495	0.025;0.042;0.131	T	0.65294	-0.6203	9	.	.	.	.	15.3785	0.74633	0.0:0.8603:0.1397:0.0	.	337;337;337	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	E	337	ENSP00000350348:Q337E;ENSP00000417536:Q337E;ENSP00000373987:Q337E;ENSP00000385664:Q337E;ENSP00000384585:Q337E	.	Q	+	1	0	GRM7	7323315	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.826000	0.62715	2.890000	0.99128	0.650000	0.86243	CAG	GRM7	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3_mtglu_rcpt		0.507	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3	C	NM_000844		7348315	+1	no_errors	ENST00000402647	ensembl	human	known	70_37	missense	SNP	1.000	G
GRTP1	79774	genome.wustl.edu	37	13	114018388	114018388	+	5'UTR	SNP	G	G	C			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr13:114018388G>C	ENST00000375431.4	-	0	53				GRTP1_ENST00000476439.1_5'UTR|GRTP1_ENST00000375430.4_5'UTR|GRTP1-AS1_ENST00000423246.1_RNA	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1								Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GGCGCGCACCGAGCGAGGCCA	0.806																																																	0													2.0	3.0	3.0					13																	114018388		851	2065	2916	SO:0001623	5_prime_UTR_variant	79774			AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.-22C>G	13.37:g.114018388G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	RNA	SNP	-	NULL	ENST00000375431.4	37	NULL	CCDS9534.2	13																																																																																			GRTP1	-	-		0.806	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	GRTP1	HGNC	protein_coding	OTTHUMT00000045882.5	G	NM_024719		114018388	-1	no_errors	ENST00000476439	ensembl	human	known	70_37	rna	SNP	0.006	C
GSR	2936	genome.wustl.edu	37	8	30539546	30539546	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr8:30539546G>A	ENST00000221130.5	-	11	1276	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	GSR_ENST00000414019.1_Nonsense_Mutation_p.R353*|GSR_ENST00000541648.1_Nonsense_Mutation_p.R343*|GSR_ENST00000537535.1_Nonsense_Mutation_p.R314*|GSR_ENST00000546342.1_Nonsense_Mutation_p.R367*	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	396					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	TCAAAAAGTCGATGGGCAAGT	0.398																																																	0													103.0	111.0	108.0					8																	30539546		2203	4300	6503	SO:0001587	stop_gained	2936				CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.1186C>T	8.37:g.30539546G>A	ENSP00000221130:p.Arg396*	Somatic		WXS	Illumina HiSeq	Phase_IV	C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Nonsense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac	p.R396*	ENST00000221130.5	37	c.1186	CCDS34877.1	8	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446589	0.84101	.	.	ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535	.	.	.	5.56	1.79	0.24919	.	0.097975	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4922	12.2826	0.54774	0.0:0.0:0.4342:0.5658	.	.	.	.	X	396;353;367;343;314	.	ENSP00000221130:R396X	R	-	1	2	GSR	30659088	0.983000	0.35010	0.991000	0.47740	0.988000	0.76386	0.627000	0.24506	0.437000	0.26423	-0.154000	0.13518	CGA	GSR	-	tigrfam_Glutathione_Rdtase_euk/bac		0.398	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSR	HGNC	protein_coding	OTTHUMT00000376519.1	G			30539546	-1	no_errors	ENST00000221130	ensembl	human	known	70_37	nonsense	SNP	0.991	A
HEATR5B	54497	genome.wustl.edu	37	2	37247929	37247929	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:37247929C>A	ENST00000233099.5	-	25	3999	c.3904G>T	c.(3904-3906)Gct>Tct	p.A1302S	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1302S	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1302						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TCAGTTGCAGCCATGAATGCC	0.428																																																	0													43.0	42.0	42.0					2																	37247929		2203	4300	6503	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3904G>T	2.37:g.37247929C>A	ENSP00000233099:p.Ala1302Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A1302S	ENST00000233099.5	37	c.3904	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.507927	0.96386	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.53857	0.6;0.6	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69278	0.3093	L	0.56396	1.775	0.80722	D	1	D	0.76494	0.999	D	0.63877	0.919	T	0.67526	-0.5648	10	0.49607	T	0.09	-23.5115	20.0109	0.97448	0.0:1.0:0.0:0.0	.	1302	Q9P2D3	HTR5B_HUMAN	S	1302	ENSP00000233099:A1302S;ENSP00000346531:A1302S	ENSP00000233099:A1302S	A	-	1	0	HEATR5B	37101433	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.071000	0.71229	2.738000	0.93877	0.591000	0.81541	GCT	HEATR5B	-	superfamily_ARM-type_fold		0.428	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	C	NM_019024		37247929	-1	no_errors	ENST00000233099	ensembl	human	known	70_37	missense	SNP	1.000	A
HSPA6	3310	genome.wustl.edu	37	1	161495319	161495319	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:161495319G>A	ENST00000309758.4	+	1	1284	c.871G>A	c.(871-873)Gag>Aag	p.E291K	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	291					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTCCCTGTTCGAGGGCGTGGA	0.652																																																	0													26.0	29.0	28.0					1																	161495319		2203	4300	6503	SO:0001583	missense	3310				CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.871G>A	1.37:g.161495319G>A	ENSP00000310219:p.Glu291Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E291K	ENST00000309758.4	37	c.871	CCDS1231.1	1	.	.	.	.	.	.	.	.	.	.	.	15.64	2.892152	0.52014	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01051	5.4	3.12	1.07	0.20283	.	0.189352	0.24884	U	0.034824	T	0.01558	0.0050	M	0.92784	3.345	0.38352	D	0.944378	D	0.54207	0.965	P	0.47102	0.537	T	0.42103	-0.9471	10	0.87932	D	0	.	5.4122	0.16354	0.1268:0.2077:0.6654:0.0	.	291	P17066	HSP76_HUMAN	K	291;267	ENSP00000310219:E291K	ENSP00000310219:E291K	E	+	1	0	HSPA6	159761943	1.000000	0.71417	0.212000	0.23672	0.694000	0.40290	2.978000	0.49305	0.027000	0.15297	-0.300000	0.09419	GAG	HSPA6	-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.652	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA6	HGNC	protein_coding	OTTHUMT00000083308.1	G	NM_002155		161495319	+1	no_errors	ENST00000309758	ensembl	human	known	70_37	missense	SNP	1.000	A
IGF2BP2	10644	genome.wustl.edu	37	3	185375096	185375096	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:185375096C>T	ENST00000382199.2	-	12	1459	c.1364G>A	c.(1363-1365)aGa>aAa	p.R455K	IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.R461K|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.R398K|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.R412K	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	455	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TCCGGCGAATCTCGCCAGCTG	0.592																																																	0													65.0	59.0	61.0					3																	185375096		2203	4300	6503	SO:0001583	missense	10644			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.1364G>A	3.37:g.185375096C>T	ENSP00000371634:p.Arg455Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.R455K	ENST00000382199.2	37	c.1364	CCDS3273.2	3	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898795	0.72639	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.22	5.22	0.72569	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.052608	0.64402	D	0.000001	T	0.28896	0.0717	L	0.33485	1.01	0.49915	D	0.999833	B;B;B;B;B;B	0.33171	0.238;0.107;0.4;0.4;0.026;0.066	B;B;B;B;B;B	0.35470	0.108;0.093;0.203;0.203;0.032;0.106	T	0.05178	-1.0901	10	0.44086	T	0.13	-8.9089	17.9191	0.88961	0.0:1.0:0.0:0.0	.	349;392;398;461;412;455	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	K	455;398;461;412	ENSP00000371634:R455K;ENSP00000413787:R398K;ENSP00000410242:R461K;ENSP00000320204:R412K	ENSP00000320204:R412K	R	-	2	0	IGF2BP2	186857790	0.847000	0.29606	0.273000	0.24645	0.995000	0.86356	6.011000	0.70760	2.586000	0.87340	0.655000	0.94253	AGA	IGF2BP2	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.592	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2BP2	HGNC	protein_coding	OTTHUMT00000157087.2	C	NM_006548		185375096	-1	no_errors	ENST00000382199	ensembl	human	known	70_37	missense	SNP	0.990	T
IGSF9B	22997	genome.wustl.edu	37	11	133801565	133801565	+	Silent	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr11:133801565C>T	ENST00000321016.8	-	9	1466	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A	IGSF9B_ENST00000533871.2_Silent_p.A412A			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	412	Ig-like 4.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGACAAGCCTCGCAGGGGCAG	0.617																																																	0													33.0	38.0	37.0					11																	133801565		2020	4178	6198	SO:0001819	synonymous_variant	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1236G>A	11.37:g.133801565C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	G5EA26	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A412	ENST00000321016.8	37	c.1236		11																																																																																			IGSF9B	-	smart_Ig_sub,pfscan_Ig-like		0.617	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		C	XM_290502		133801565	-1	no_errors	ENST00000321016	ensembl	human	known	70_37	silent	SNP	0.913	T
IL33	90865	genome.wustl.edu	37	9	6254555	6254556	+	Splice_Site	INS	-	-	A	rs113609242|rs60420792		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr9:6254555_6254556insA	ENST00000381434.3	+	6	625		c.e6+2		IL33_ENST00000456383.2_Splice_Site|IL33_ENST00000417746.2_Splice_Site	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33						extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		TCTGTGGAGGTAAAAAAAAAAA	0.371																																																	0																																										SO:0001630	splice_region_variant	90865			AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"""Interleukins and interleukin receptors"""	16028	protein-coding gene	gene with protein product	"""DVS27-related protein"", ""nuclear factor for high endothelial venules"", ""interleukin-1 family, member 11"""	608678	"""chromosome 9 open reading frame 26 (NF-HEV)"""	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.612+2->A	9.37:g.6254566_6254566dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Splice_Site	INS	-	e6+2	ENST00000381434.3	37	c.612+2_612+1	CCDS6468.1	9																																																																																			IL33	-	-		0.371	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL33	HGNC	protein_coding	OTTHUMT00000051655.1	-	NM_033439	Intron	6254556	+1	no_errors	ENST00000381434	ensembl	human	known	70_37	splice_site_ins	INS	0.996:0.986	A
ITGB1BP2	26548	genome.wustl.edu	37	X	70523593	70523593	+	Intron	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:70523593C>T	ENST00000373829.3	+	7	612				ITGB1BP2_ENST00000465388.1_3'UTR|ITGB1BP2_ENST00000538820.1_Intron	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2						muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					AGACAGGTTTCTCCTAATATT	0.483																																																	0													32.0	31.0	31.0					X																	70523593		2203	4300	6503	SO:0001627	intron_variant	26548			AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.539+46C>T	X.37:g.70523593C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q32N04|Q549J7	RNA	SNP	-	NULL	ENST00000373829.3	37	NULL	CCDS14411.1	X																																																																																			ITGB1BP2	-	-		0.483	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB1BP2	HGNC	protein_coding	OTTHUMT00000057126.1	C	NM_012278		70523593	+1	no_errors	ENST00000465388	ensembl	human	known	70_37	rna	SNP	0.042	T
KAT6B	23522	genome.wustl.edu	37	10	76744974	76744974	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr10:76744974G>T	ENST00000287239.4	+	12	2999	c.2510G>T	c.(2509-2511)tGt>tTt	p.C837F	KAT6B_ENST00000372711.1_Missense_Mutation_p.C654F|KAT6B_ENST00000372714.1_Missense_Mutation_p.C545F|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372724.1_Missense_Mutation_p.C545F|KAT6B_ENST00000372725.1_Missense_Mutation_p.C545F	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	837	Catalytic.|Interaction with BRPF1.|MYST-type HAT.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GAAAAGGGCTGTCATCTGGTT	0.388																																																	0													105.0	99.0	101.0					10																	76744974		2203	4300	6503	SO:0001583	missense	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2510G>T	10.37:g.76744974G>T	ENSP00000287239:p.Cys837Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.C837F	ENST00000287239.4	37	c.2510	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801688	0.50315	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.78707	-1.17;-1.17;-1.2;-1.17;-1.19	6.07	6.07	0.98685	.	0.000000	0.53938	D	0.000041	D	0.86936	0.6053	L	0.54965	1.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.86276	0.1664	10	0.66056	D	0.02	-7.1593	20.6452	0.99591	0.0:0.0:1.0:0.0	.	654;545;837	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	F	545;545;837;545;654	ENSP00000361810:C545F;ENSP00000361809:C545F;ENSP00000287239:C837F;ENSP00000361799:C545F;ENSP00000361796:C654F	ENSP00000287239:C837F	C	+	2	0	KAT6B	76414980	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.885000	0.99019	0.650000	0.86243	TGT	KAT6B	-	pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase		0.388	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	G	NM_012330		76744974	+1	no_errors	ENST00000287239	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNK9	51305	genome.wustl.edu	37	8	140631235	140631235	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr8:140631235G>A	ENST00000520439.1	-	2	454	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	KCNK9_ENST00000303015.1_Missense_Mutation_p.R131C|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	131					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	GTGTTCATGCGCTCGCCCAGG	0.592																																																	0													95.0	75.0	82.0					8																	140631235		2203	4300	6503	SO:0001583	missense	51305			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.391C>T	8.37:g.140631235G>A	ENSP00000430676:p.Arg131Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M290|Q540F2	Missense_Mutation	SNP	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl	p.R131C	ENST00000520439.1	37	c.391	CCDS6377.1	8	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285938	0.59867	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.32023	1.47;1.47;1.47	5.73	3.87	0.44632	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.62429	0.2427	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70146	-0.4952	10	0.87932	D	0	.	13.0231	0.58800	0.0:0.0:0.5767:0.4233	.	131	Q9NPC2	KCNK9_HUMAN	C	131	ENSP00000429847:R131C;ENSP00000302166:R131C;ENSP00000430676:R131C	ENSP00000302166:R131C	R	-	1	0	KCNK9	140700417	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.179000	0.58290	0.705000	0.31890	0.655000	0.94253	CGC	KCNK9	-	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK		0.592	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK9	HGNC	protein_coding	OTTHUMT00000378473.1	G	NM_016601		140631235	-1	no_errors	ENST00000303015	ensembl	human	known	70_37	missense	SNP	1.000	A
KDM2A	22992	genome.wustl.edu	37	11	67021879	67021879	+	Silent	SNP	C	C	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr11:67021879C>A	ENST00000529006.2	+	20	3743	c.3297C>A	c.(3295-3297)ctC>ctA	p.L1099L	KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Silent_p.L557L|KDM2A_ENST00000530342.1_Silent_p.L660L	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1099					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TCACAGAGCTCAATATGGCAG	0.537																																																	0													149.0	144.0	146.0					11																	67021879		2097	4211	6308	SO:0001819	synonymous_variant	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.3297C>A	11.37:g.67021879C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.L1099	ENST00000529006.2	37	c.3297	CCDS44657.1	11																																																																																			KDM2A	-	smart_Leu-rich_rpt_Cys-con_subtyp		0.537	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	C	NM_012308		67021879	+1	no_errors	ENST00000529006	ensembl	human	known	70_37	silent	SNP	1.000	A
KDM2B	84678	genome.wustl.edu	37	12	121880220	121880220	+	Silent	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr12:121880220C>T	ENST00000377071.4	-	19	3096	c.3024G>A	c.(3022-3024)ctG>ctA	p.L1008L	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Silent_p.L376L|KDM2B_ENST00000377069.4_Silent_p.L939L	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1008					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GCTGGTGCCGCAGCTCCCGGG	0.736																																																	0													6.0	8.0	7.0					12																	121880220		1776	3879	5655	SO:0001819	synonymous_variant	84678			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3024G>A	12.37:g.121880220C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.L1008	ENST00000377071.4	37	c.3024	CCDS41850.1	12																																																																																			KDM2B	-	NULL		0.736	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	HGNC	protein_coding	OTTHUMT00000402132.2	C	NM_032590		121880220	-1	no_errors	ENST00000377071	ensembl	human	known	70_37	silent	SNP	1.000	T
KDM4A	9682	genome.wustl.edu	37	1	44163650	44163650	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:44163650C>A	ENST00000372396.3	+	19	2941	c.2807C>A	c.(2806-2808)tCc>tAc	p.S936Y	KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	936	Tudor 1.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GATGATGGCTCCTTCAGCGAC	0.483																																																	0													120.0	116.0	118.0					1																	44163650		2203	4300	6503	SO:0001583	missense	9682			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2807C>A	1.37:g.44163650C>A	ENSP00000361473:p.Ser936Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVB1	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.S936Y	ENST00000372396.3	37	c.2807	CCDS491.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.272124	0.95429	.	.	ENSG00000066135	ENST00000372396	T	0.74002	-0.8	6.08	6.08	0.98989	Tudor domain (1);	0.000000	0.85682	D	0.000000	D	0.88358	0.6415	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.88464	0.3057	10	0.87932	D	0	-23.5429	20.6634	0.99662	0.0:1.0:0.0:0.0	.	936	O75164	KDM4A_HUMAN	Y	936	ENSP00000361473:S936Y	ENSP00000361473:S936Y	S	+	2	0	KDM4A	43936237	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	TCC	KDM4A	-	smart_Tudor		0.483	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	HGNC	protein_coding	OTTHUMT00000019960.1	C	NM_014663		44163650	+1	no_errors	ENST00000372396	ensembl	human	known	70_37	missense	SNP	1.000	A
ICE1	23379	genome.wustl.edu	37	5	5476114	5476114	+	Missense_Mutation	SNP	T	T	C			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr5:5476114T>C	ENST00000296564.7	+	17	6664	c.6442T>C	c.(6442-6444)Tgg>Cgg	p.W2148R		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2148					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GATGGATAAATGGATAAAATA	0.318																																																	0													115.0	108.0	110.0					5																	5476114		1862	4109	5971	SO:0001583	missense	23379																														ENST00000296564.7:c.6442T>C	5.37:g.5476114T>C	ENSP00000296564:p.Trp2148Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.W2148R	ENST00000296564.7	37	c.6442	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695093	0.68386	.	.	ENSG00000164151	ENST00000296564	T	0.60171	0.21	5.49	5.49	0.81192	.	.	.	.	.	T	0.72053	0.3413	M	0.61703	1.905	0.47737	D	0.999505	D	0.89917	1.0	D	0.91635	0.999	T	0.75031	-0.3461	9	0.87932	D	0	-7.6321	11.9795	0.53111	0.0:0.0:0.0:1.0	.	2148	Q9Y2F5	K0947_HUMAN	R	2148	ENSP00000296564:W2148R	ENSP00000296564:W2148R	W	+	1	0	KIAA0947	5529114	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.635000	0.67841	2.080000	0.62538	0.528000	0.53228	TGG	KIAA0947	-	NULL		0.318	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	T			5476114	+1	no_errors	ENST00000296564	ensembl	human	known	70_37	missense	SNP	1.000	C
KIF13B	23303	genome.wustl.edu	37	8	28932813	28932813	+	Silent	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr8:28932813C>T	ENST00000524189.1	-	38	4544	c.4506G>A	c.(4504-4506)gtG>gtA	p.V1502V	KIF13B_ENST00000404075.3_Intron	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1502					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCATCCTGGTCACCCTGATGT	0.632																																																	0													20.0	25.0	23.0					8																	28932813		2050	4137	6187	SO:0001819	synonymous_variant	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.4506G>A	8.37:g.28932813C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V1502	ENST00000524189.1	37	c.4506	CCDS55217.1	8																																																																																			KIF13B	-	NULL		0.632	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	C			28932813	-1	no_errors	ENST00000524189	ensembl	human	known	70_37	silent	SNP	0.000	T
GOLGA2P9	440518	genome.wustl.edu	37	19	22785250	22785250	+	RNA	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr19:22785250G>A	ENST00000599738.1	+	0	0				RN7SL860P_ENST00000473738.2_RNA|AC011467.1_ENST00000408863.1_RNA|CTC-457E21.3_ENST00000600260.1_RNA																							CCAGCCCCAGGGACTGGGATG	0.662																																																	0																																												440518																															19.37:g.22785250G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000599738.1	37	NULL		19																																																																																			CTC-457E21.3	-	-		0.662	CTC-457E21.6-001	KNOWN	basic|readthrough_transcript	processed_transcript	LOC440518	Clone_based_vega_gene	processed_transcript	OTTHUMT00000464575.1	G			22785250	+1	no_errors	ENST00000600260	ensembl	human	known	70_37	rna	SNP	0.034	A
LOXHD1	125336	genome.wustl.edu	37	18	44121822	44121822	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr18:44121822C>T	ENST00000398722.4	-	18	2995	c.2996G>A	c.(2995-2997)cGc>cAc	p.R999H	LOXHD1_ENST00000441893.2_Missense_Mutation_p.R210H|LOXHD1_ENST00000536736.1_Missense_Mutation_p.R1277H|LOXHD1_ENST00000582408.1_Missense_Mutation_p.R166H|LOXHD1_ENST00000579038.1_Missense_Mutation_p.R70H|LOXHD1_ENST00000300591.6_Missense_Mutation_p.R166H|LOXHD1_ENST00000441551.2_Missense_Mutation_p.R1071H			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	999	PLAT 7. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						GGCCAGCCAGCGGCCACAGGG	0.567																																																	0													89.0	89.0	89.0					18																	44121822		692	1591	2283	SO:0001583	missense	125336			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.2996G>A	18.37:g.44121822C>T	ENSP00000381707:p.Arg999His	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2	p.R1277H	ENST00000398722.4	37	c.3830		18	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619118	0.46736	.	.	ENSG00000167210	ENST00000300591;ENST00000398722;ENST00000536736;ENST00000441893;ENST00000335730;ENST00000536111	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	4.85	3.01	0.34805	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.328529	0.32836	N	0.005592	D	0.82838	0.5124	M	0.92169	3.28	0.48696	D	0.999694	D;D;D;D	0.89917	0.999;0.97;0.999;1.0	D;P;D;D	0.70716	0.966;0.517;0.949;0.97	D	0.84115	0.0403	10	0.56958	D	0.05	.	9.6576	0.39936	0.1393:0.7855:0.0:0.0752	.	1277;210;999;999	F5GZB4;F8WA52;Q8IVV2-2;Q8IVV2	.;.;.;LOXH1_HUMAN	H	166;999;1277;210;999;179	ENSP00000300591:R166H;ENSP00000381707:R999H;ENSP00000444586:R1277H;ENSP00000409062:R210H;ENSP00000440060:R179H	ENSP00000300591:R166H	R	-	2	0	LOXHD1	42375820	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.944000	0.63561	1.001000	0.39076	0.462000	0.41574	CGC	LOXHD1	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2		0.567	LOXHD1-201	KNOWN	basic	protein_coding	LOXHD1	HGNC	protein_coding		C	NM_144612		44121822	-1	no_errors	ENST00000536736	ensembl	human	known	70_37	missense	SNP	1.000	T
LRIG2	9860	genome.wustl.edu	37	1	113657099	113657099	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:113657099G>A	ENST00000361127.5	+	15	2329	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	711	Ig-like C2-type 3.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AACACGAGGTGAAACTGCGGT	0.423																																																	0													81.0	76.0	77.0					1																	113657099		2203	4300	6503	SO:0001583	missense	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2131G>A	1.37:g.113657099G>A	ENSP00000355396:p.Glu711Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NSN2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E711K	ENST00000361127.5	37	c.2131	CCDS30808.1	1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049080	0.93740	.	.	ENSG00000198799	ENST00000361127	T	0.32753	1.44	5.37	5.37	0.77165	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.27489	0.0675	N	0.25245	0.725	0.80722	D	1	P	0.38048	0.616	P	0.51550	0.673	T	0.09862	-1.0655	10	0.45353	T	0.12	.	19.1015	0.93276	0.0:0.0:1.0:0.0	.	711	O94898	LRIG2_HUMAN	K	711	ENSP00000355396:E711K	ENSP00000355396:E711K	E	+	1	0	LRIG2	113458622	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.869000	0.99810	2.499000	0.84300	0.462000	0.41574	GAA	LRIG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.423	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	G	NM_014813		113657099	+1	no_errors	ENST00000361127	ensembl	human	known	70_37	missense	SNP	1.000	A
LRP1B	53353	genome.wustl.edu	37	2	141092125	141092125	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:141092125C>T	ENST00000389484.3	-	79	13091	c.12120G>A	c.(12118-12120)atG>atA	p.M4040I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4040					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCAGTACATCATCCTGAAGA	0.493										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													130.0	117.0	122.0					2																	141092125		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12120G>A	2.37:g.141092125C>T	ENSP00000374135:p.Met4040Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.M4040I	ENST00000389484.3	37	c.12120	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860675	0.51482	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95853	-3.83	6.08	6.08	0.98989	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.100100	0.64402	D	0.000003	D	0.90665	0.7072	L	0.31664	0.95	0.44825	D	0.997836	P	0.38280	0.625	B	0.34931	0.192	D	0.88611	0.3156	10	0.22706	T	0.39	.	13.4918	0.61399	0.0:0.9284:0.0:0.0716	.	4040	Q9NZR2	LRP1B_HUMAN	I	4040;3978	ENSP00000374135:M4040I	ENSP00000374135:M4040I	M	-	3	0	LRP1B	140808595	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	5.668000	0.68074	2.894000	0.99253	0.591000	0.81541	ATG	LRP1B	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.493	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	C	NM_018557		141092125	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	T
LRRFIP1	9208	genome.wustl.edu	37	2	238657916	238657916	+	Silent	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:238657916C>T	ENST00000392000.4	+	6	477	c.360C>T	c.(358-360)agC>agT	p.S120S	LRRFIP1_ENST00000289175.6_Silent_p.S88S|LRRFIP1_ENST00000308482.9_Silent_p.S248S|LRRFIP1_ENST00000244815.5_Silent_p.S120S	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	120					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GGAGAGGCAGCGGAGACACCT	0.542																																																	0													74.0	57.0	63.0					2																	238657916		2203	4300	6503	SO:0001819	synonymous_variant	9208			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.360C>T	2.37:g.238657916C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Silent	SNP	pfam_Leu-rich_rep_flightless-int_pr	p.S120	ENST00000392000.4	37	c.360	CCDS46552.1	2																																																																																			LRRFIP1	-	pfam_Leu-rich_rep_flightless-int_pr		0.542	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	LRRFIP1	HGNC	protein_coding	OTTHUMT00000317198.1	C	NM_004735		238657916	+1	no_errors	ENST00000392000	ensembl	human	known	70_37	silent	SNP	0.159	T
LRWD1	222229	genome.wustl.edu	37	7	102108530	102108530	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr7:102108530C>T	ENST00000292616.5	+	6	852	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	234					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GGCCTTGAAACGGCCAGACGA	0.687																																																	0													36.0	41.0	39.0					7																	102108530		2201	4298	6499	SO:0001583	missense	222229			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.700C>T	7.37:g.102108530C>T	ENSP00000292616:p.Arg234Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R234W	ENST00000292616.5	37	c.700	CCDS34715.1	7	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727439	0.48833	.	.	ENSG00000161036	ENST00000292616	T	0.62232	0.04	4.59	2.75	0.32379	.	0.442525	0.23975	N	0.042725	T	0.50497	0.1619	L	0.59436	1.845	0.09310	N	0.999999	B	0.27450	0.179	B	0.17722	0.019	T	0.46884	-0.9159	10	0.49607	T	0.09	-15.3876	5.0396	0.14452	0.209:0.6855:0.0:0.1055	.	234	Q9UFC0	LRWD1_HUMAN	W	234	ENSP00000292616:R234W	ENSP00000292616:R234W	R	+	1	2	LRWD1	101895535	0.996000	0.38824	0.152000	0.22495	0.770000	0.43624	1.783000	0.38664	1.259000	0.44117	0.462000	0.41574	CGG	LRWD1	-	NULL		0.687	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRWD1	HGNC	protein_coding	OTTHUMT00000349493.1	C	NM_152892		102108530	+1	no_errors	ENST00000292616	ensembl	human	known	70_37	missense	SNP	0.149	T
MAGEB3	4114	genome.wustl.edu	37	X	30254216	30254216	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:30254216C>T	ENST00000361644.2	+	5	912	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	59										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						TGGTAGGTCACGTAGTGCTCT	0.433																																																	0													35.0	30.0	32.0					X																	30254216		2202	4300	6502	SO:0001583	missense	4114			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.175C>T	X.37:g.30254216C>T	ENSP00000355198:p.Arg59Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R59C	ENST00000361644.2	37	c.175	CCDS14220.1	X	.	.	.	.	.	.	.	.	.	.	c	3.970	-0.008484	0.07727	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.04454	3.62;3.62	3.74	-5.62	0.02481	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43718	-0.9374	9	0.33940	T	0.23	.	1.8384	0.03144	0.109:0.3031:0.2463:0.3417	.	59	O15480	MAGB3_HUMAN	C	59	ENSP00000368271:R59C;ENSP00000355198:R59C	ENSP00000355198:R59C	R	+	1	0	MAGEB3	30164137	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.930000	0.01557	-1.930000	0.01056	-2.573000	0.00170	CGT	MAGEB3	-	pfam_Melanoma_ass_antigen_N		0.433	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB3	HGNC	protein_coding	OTTHUMT00000056158.2	C	NM_002365		30254216	+1	no_errors	ENST00000361644	ensembl	human	known	70_37	missense	SNP	0.000	T
MAGEC3	139081	genome.wustl.edu	37	X	140984709	140984709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:140984709C>T	ENST00000298296.1	+	7	1165	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*	MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_Nonsense_Mutation_p.Q91*|MAGEC3_ENST00000409007.1_Nonsense_Mutation_p.Q91*|MAGEC3_ENST00000536088.1_Nonsense_Mutation_p.Q91*|MAGEC3_ENST00000443323.2_Nonsense_Mutation_p.Q11*	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	389	Pro-rich.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTCTTCCCCAGAGTCCTCC	0.587																																																	0													47.0	39.0	42.0					X																	140984709		2175	4257	6432	SO:0001587	stop_gained	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1165C>T	X.37:g.140984709C>T	ENSP00000298296:p.Gln389*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SYA7|Q5JZ43|Q9BZ80	Nonsense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.Q389*	ENST00000298296.1	37	c.1165	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	c	12.20	1.866109	0.32977	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	.	.	.	0.225	0.225	0.15325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	.	.	.	.	.	.	.	X	389;91;11;91;91	.	ENSP00000298296:Q389X	Q	+	1	0	MAGEC3	140812375	0.005000	0.15991	0.036000	0.18154	0.158000	0.22134	0.582000	0.23834	0.280000	0.22209	0.284000	0.19432	CAG	MAGEC3	-	NULL		0.587	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	C	NM_138702		140984709	+1	no_errors	ENST00000298296	ensembl	human	known	70_37	nonsense	SNP	0.035	T
MCM10	55388	genome.wustl.edu	37	10	13234490	13234490	+	Missense_Mutation	SNP	C	C	T	rs558495502		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr10:13234490C>T	ENST00000484800.2	+	13	1773	c.1670C>T	c.(1669-1671)tCg>tTg	p.S557L	MCM10_ENST00000378714.3_Missense_Mutation_p.S556L|MCM10_ENST00000378694.1_Missense_Mutation_p.S556L			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	557					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AAGTCCATCTCGGCCTCAGCA	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19744	0.0		0.0	False		,,,				2504	0.0																0													102.0	101.0	101.0					10																	13234490		2203	4300	6503	SO:0001583	missense	55388			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1670C>T	10.37:g.13234490C>T	ENSP00000418268:p.Ser557Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG	p.S557L	ENST00000484800.2	37	c.1670	CCDS7096.1	10	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088014	0.76642	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.39406	1.08;1.08;1.08	5.61	5.61	0.85477	Replication factor Mcm10 (1);	0.114365	0.64402	D	0.000008	T	0.65312	0.2679	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.68621	0.912;0.932;0.959	T	0.65861	-0.6065	10	0.56958	D	0.05	-16.655	19.6689	0.95903	0.0:1.0:0.0:0.0	.	556;556;557	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	L	556;557;557;556	ENSP00000367986:S556L;ENSP00000418268:S557L;ENSP00000367966:S556L	ENSP00000354945:S557L	S	+	2	0	MCM10	13274496	1.000000	0.71417	0.895000	0.35142	0.326000	0.28443	6.827000	0.75303	2.643000	0.89663	0.643000	0.83706	TCG	MCM10	-	pfam_Rep_factor_Mcm10		0.517	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM10	HGNC	protein_coding	OTTHUMT00000356853.1	C	NM_182751		13234490	+1	no_errors	ENST00000361282	ensembl	human	known	70_37	missense	SNP	1.000	T
SKA2	348235	genome.wustl.edu	37	17	57228532	57228532	+	Intron	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr17:57228532G>A	ENST00000330137.7	-	1	139				SKA2_ENST00000578105.1_Intron|MIR301A_ENST00000385261.1_RNA|SKA2_ENST00000580541.1_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000437036.2_Intron|SKA2_ENST00000583927.1_Intron|SKA2_ENST00000583380.1_Intron	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2						cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			lung(4)	4						CTATTGCACTGCTAGCTGTAA	0.383																																																	0													84.0	74.0	77.0					17																	57228532		1568	3578	5146	SO:0001627	intron_variant	407027			BC017873	CCDS45747.1, CCDS45748.1	17q23.2	2013-01-17	2009-08-19	2009-08-19	ENSG00000182628	ENSG00000182628			28006	protein-coding gene	gene with protein product			"""family with sequence similarity 33, member A"""	FAM33A		17093495, 19289083, 18583474	Standard	NM_182620		Approved	FLJ12758	uc010dde.1	Q8WVK7		ENST00000330137.7:c.33+3959C>T	17.37:g.57228532G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIL3|B3KPL3|E9PCB8	RNA	SNP	-	NULL	ENST00000330137.7	37	NULL	CCDS45747.1	17																																																																																			MIR301A	-	-		0.383	SKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR301A	HGNC	protein_coding	OTTHUMT00000445939.1	G	NM_182620		57228532	-1	no_errors	ENST00000385261	ensembl	human	known	70_37	rna	SNP	1.000	A
KMT2C	58508	genome.wustl.edu	37	7	151877154	151877154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr7:151877154G>A	ENST00000262189.6	-	37	7425	c.7207C>T	c.(7207-7209)Cga>Tga	p.R2403*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.R2403*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2403					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTCTCCTGTCGACCTGCAATC	0.498																																																	0													244.0	215.0	225.0					7																	151877154		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7207C>T	7.37:g.151877154G>A	ENSP00000262189:p.Arg2403*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R2403*	ENST00000262189.6	37	c.7207	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	50	16.332672	0.99860	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.5	5.5	0.81552	.	0.000000	0.39985	N	0.001211	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3908	0.94581	0.0:0.0:1.0:0.0	.	.	.	.	X	2403	.	ENSP00000262189:R2403X	R	-	1	2	MLL3	151508087	1.000000	0.71417	0.900000	0.35374	0.984000	0.73092	4.575000	0.60908	2.578000	0.87016	0.650000	0.86243	CGA	MLL3	-	NULL		0.498	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151877154	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	0.967	A
MMP3	4314	genome.wustl.edu	37	11	102709885	102709885	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr11:102709885G>A	ENST00000299855.5	-	7	1281	c.1025C>T	c.(1024-1026)gCc>gTc	p.A342V	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	342					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	TTCATATGCGGCATCCACGCC	0.378																																																	0													90.0	96.0	94.0					11																	102709885		2203	4299	6502	SO:0001583	missense	4314			X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.1025C>T	11.37:g.102709885G>A	ENSP00000299855:p.Ala342Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.A342V	ENST00000299855.5	37	c.1025	CCDS8323.1	11	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821162	0.71028	.	.	ENSG00000149968	ENST00000299855	T	0.18810	2.19	5.58	5.58	0.84498	Hemopexin/matrixin, conserved site (1);Hemopexin/matrixin (2);	0.000000	0.36591	N	0.002511	T	0.63129	0.2485	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74569	-0.3622	10	0.87932	D	0	.	19.769	0.96353	0.0:0.0:1.0:0.0	.	342	P08254	MMP3_HUMAN	V	342	ENSP00000299855:A342V	ENSP00000299855:A342V	A	-	2	0	MMP3	102215095	1.000000	0.71417	0.995000	0.50966	0.046000	0.14306	8.676000	0.91199	2.906000	0.99361	0.655000	0.94253	GCC	MMP3	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom		0.378	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP3	HGNC	protein_coding	OTTHUMT00000109758.2	G	NM_002422		102709885	-1	no_errors	ENST00000299855	ensembl	human	known	70_37	missense	SNP	1.000	A
MOV10	4343	genome.wustl.edu	37	1	113217534	113217534	+	De_novo_Start_InFrame	SNP	G	G	A	rs36098333		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:113217534G>A	ENST00000413052.2	+	0	390				MOV10_ENST00000369644.1_De_novo_Start_OutOfFrame|MOV10_ENST00000357443.2_De_novo_Start_InFrame|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000544796.1_De_novo_Start_InFrame|MOV10_ENST00000369645.1_De_novo_Start_InFrame	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CCGCCGCCGCGATGCCCAGTA	0.647																																																	0													37.0	46.0	43.0					1																	113217534		2203	4297	6500			4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906		1.37:g.113217534G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	RNA	SNP	-	NULL	ENST00000413052.2	37	NULL	CCDS853.1	1																																																																																			MOV10	-	-		0.647	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	G	NM_020963		113217534	+1	no_errors	ENST00000461226	ensembl	human	known	70_37	rna	SNP	1.000	A
MST1R	4486	genome.wustl.edu	37	3	49939856	49939856	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:49939856C>T	ENST00000296474.3	-	1	1214	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	CTD-2330K9.2_ENST00000435478.1_RNA|CTD-2330K9.3_ENST00000419183.1_5'Flank|MST1R_ENST00000344206.4_Missense_Mutation_p.R396Q	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	396	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GTCGAGGCCTCGCCGGAGGCC	0.567																																																	0													89.0	102.0	98.0					3																	49939856		2203	4300	6503	SO:0001583	missense	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1187G>A	3.37:g.49939856C>T	ENSP00000296474:p.Arg396Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R396Q	ENST00000296474.3	37	c.1187	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908789	0.72868	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.10960	2.82;2.82	4.77	3.87	0.44632	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.33789	0.0875	M	0.77820	2.39	0.40301	D	0.978611	D;D;D;D;D	0.89917	0.982;1.0;0.967;0.984;1.0	P;D;P;P;D	0.87578	0.765;0.996;0.691;0.771;0.998	T	0.23511	-1.0186	10	0.72032	D	0.01	-9.491	14.3787	0.66897	0.0:0.8505:0.1495:0.0	.	396;396;396;396;396	Q04912-3;Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;.;RON_HUMAN	Q	396	ENSP00000296474:R396Q;ENSP00000341325:R396Q	ENSP00000296474:R396Q	R	-	2	0	MST1R	49914860	0.983000	0.35010	0.089000	0.20774	0.401000	0.30781	7.112000	0.77086	0.951000	0.37770	0.561000	0.74099	CGA	MST1R	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag		0.567	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	C			49939856	-1	no_errors	ENST00000296474	ensembl	human	known	70_37	missense	SNP	0.736	T
MT-CO1	4512	genome.wustl.edu	37	M	7156	7156	+	Missense_Mutation	SNP	T	T	C			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrM:7156T>C	ENST00000361624.2	+	1	1253	c.1253T>C	c.(1252-1254)tTc>tCc	p.F418S	MT-TG_ENST00000387429.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-CO2_ENST00000361739.1_5'Flank			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	418					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CACTATCATATTCATCGGCGT	0.463																																																	0																																										SO:0001583	missense	4512					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.1253T>C	M.37:g.7156T>C	ENSP00000354499:p.Phe418Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q34770	Missense_Mutation	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.F418S	ENST00000361624.2	37	c.1253		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1		0.463	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		T	YP_003024028		7156	+1	no_errors	ENST00000361624	ensembl	human	known	70_37	missense	SNP	NULL	C
MUC12	10071	genome.wustl.edu	37	7	100661892	100661892	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr7:100661892C>T	ENST00000379442.3	+	15	16412	c.16412C>T	c.(16411-16413)cCg>cTg	p.P5471L	MUC12_ENST00000536621.1_Missense_Mutation_p.P5328L|RP11-395B7.4_ENST00000441882.1_RNA|MUC12_ENST00000467414.1_3'UTR|RP11-395B7.4_ENST00000448513.1_RNA|MUC17_ENST00000306151.4_5'Flank			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	5471					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						ATCCAGAGGCCGGAGATGGTA	0.652																																																	0													36.0	36.0	36.0					7																	100661892		692	1591	2283	SO:0001583	missense	10071			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.16412C>T	7.37:g.100661892C>T	ENSP00000368755:p.Pro5471Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.P5471L	ENST00000379442.3	37	c.16412		7	.	.	.	.	.	.	.	.	.	.	c	6.396	0.441171	0.12164	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.23950	1.88;1.88	1.84	1.84	0.25277	.	0.000000	0.37483	U	0.002065	T	0.36441	0.0967	M	0.76838	2.35	0.09310	N	0.999999	.	.	.	.	.	.	T	0.13282	-1.0515	8	0.66056	D	0.02	.	7.2259	0.26016	0.0:1.0:0.0:0.0	.	.	.	.	L	5471;5328	ENSP00000368755:P5471L;ENSP00000441929:P5328L	ENSP00000368755:P5471L	P	+	2	0	MUC12	100448612	0.012000	0.17670	0.113000	0.21522	0.116000	0.19942	1.804000	0.38873	1.362000	0.46000	0.282000	0.19409	CCG	MUC12	-	NULL		0.652	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	C	XM_379904		100661892	+1	no_errors	ENST00000379442	ensembl	human	known	70_37	missense	SNP	0.144	T
MUC4	4585	genome.wustl.edu	37	3	195509987	195509987	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:195509987C>T	ENST00000463781.3	-	2	8923	c.8464G>A	c.(8464-8466)Gct>Act	p.A2822T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A2822T|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACTGAGGAAGCGTCGGTGACA	0.592																																																	0													66.0	46.0	52.0					3																	195509987		678	1519	2197	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8464G>A	3.37:g.195509987C>T	ENSP00000417498:p.Ala2822Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.A2822T	ENST00000463781.3	37	c.8464	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	8.633	0.894078	0.17613	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32023	1.52;1.47	.	.	.	.	.	.	.	.	T	0.13628	0.0330	N	0.14661	0.345	0.20307	N	0.999913	B	0.28350	0.208	B	0.17098	0.017	T	0.26467	-1.0102	7	.	.	.	.	5.8178	0.18506	0.0:0.999:0.0:0.001	.	2694	E7ESK3	.	T	2822	ENSP00000417498:A2822T;ENSP00000420243:A2822T	.	A	-	1	0	MUC4	196994766	0.106000	0.21978	0.000000	0.03702	0.000000	0.00434	-2.295000	0.01143	-0.000000	0.14550	0.000000	0.15137	GCT	MUC4	-	NULL		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	C	NM_018406		195509987	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.873	T
MUC4	4585	genome.wustl.edu	37	3	195510853	195510853	+	Missense_Mutation	SNP	T	T	C			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:195510853T>C	ENST00000463781.3	-	2	8057	c.7598A>G	c.(7597-7599)aAt>aGt	p.N2533S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.N2533S|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGCATTGGTGACAGG	0.572																																																	0													163.0	136.0	144.0					3																	195510853		651	1591	2242	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7598A>G	3.37:g.195510853T>C	ENSP00000417498:p.Asn2533Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.N2533S	ENST00000463781.3	37	c.7598	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	5.530	0.282742	0.10458	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.29917	1.55;1.55	.	.	.	.	.	.	.	.	T	0.11067	0.0270	N	0.08118	0	0.09310	N	1	B	0.33494	0.414	B	0.22386	0.039	T	0.24261	-1.0165	7	.	.	.	.	5.3345	0.15949	0.0:1.0E-4:0.0:0.9999	.	2533	E7ESK3	.	S	2533	ENSP00000417498:N2533S;ENSP00000420243:N2533S	.	N	-	2	0	MUC4	196995248	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.544000	0.00933	0.000000	0.14550	0.000000	0.15137	AAT	MUC4	-	NULL		0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	T	NM_018406		195510853	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.393	C
MUC5AC	4586	genome.wustl.edu	37	11	1215458	1215458	+	3'UTR	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr11:1215458G>A	ENST00000358378.6	+	0	1489							P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CCACTTCCGCGTGCTCGTCGA	0.617																																																	0													39.0	35.0	36.0					11																	1215458		871	1988	2859	SO:0001624	3_prime_UTR_variant	4586			AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000358378.6:c.*1486G>A	11.37:g.1215458G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	RNA	SNP	-	NULL	ENST00000358378.6	37	NULL		11																																																																																			MUC5AC	-	-		0.617	MUC5AC-002	PUTATIVE	basic|exp_conf	processed_transcript	MUC5AC	HGNC	protein_coding	OTTHUMT00000396096.2	G	XM_001130382		1215458	+1	no_errors	ENST00000358378	ensembl	human	putative	70_37	rna	SNP	0.096	A
MUC5B	727897	genome.wustl.edu	37	11	1267515	1267515	+	Silent	SNP	C	C	G			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr11:1267515C>G	ENST00000529681.1	+	31	9463	c.9405C>G	c.(9403-9405)ctC>ctG	p.L3135L	MUC5B_ENST00000447027.1_Silent_p.L3138L|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3135	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTGGATCCTCACAGAGCTGA	0.657																																																	0													60.0	78.0	72.0					11																	1267515		2040	4168	6208	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9405C>G	11.37:g.1267515C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.L3138	ENST00000529681.1	37	c.9414	CCDS44515.2	11																																																																																			MUC5B	-	NULL		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1267515	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	0.001	G
MYF6	4618	genome.wustl.edu	37	12	81101604	81101604	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr12:81101604G>A	ENST00000228641.3	+	1	328	c.106G>A	c.(106-108)Ggg>Agg	p.G36R		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	36					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TTTGTATCCAGGGAGTGATGG	0.562																																																	0													85.0	87.0	86.0					12																	81101604		2203	4300	6503	SO:0001583	missense	4618				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.106G>A	12.37:g.81101604G>A	ENSP00000228641:p.Gly36Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom	p.G36R	ENST00000228641.3	37	c.106	CCDS9019.1	12	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665660	0.47677	.	.	ENSG00000111046	ENST00000228641	T	0.75821	-0.97	5.62	5.62	0.85841	Myogenic basic muscle-specific protein (2);	0.000000	0.85682	D	0.000000	T	0.80686	0.4670	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72830	-0.4174	10	0.07175	T	0.84	.	19.6517	0.95819	0.0:0.0:1.0:0.0	.	36	P23409	MYF6_HUMAN	R	36	ENSP00000228641:G36R	ENSP00000228641:G36R	G	+	1	0	MYF6	79625735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.626000	0.67777	2.662000	0.90505	0.655000	0.94253	GGG	MYF6	-	pfam_Basic,smart_Basic		0.562	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF6	HGNC	protein_coding	OTTHUMT00000407756.1	G	NM_002469		81101604	+1	no_errors	ENST00000228641	ensembl	human	known	70_37	missense	SNP	1.000	A
MYO15A	51168	genome.wustl.edu	37	17	18023258	18023258	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr17:18023258G>A	ENST00000205890.5	+	2	1482	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	382					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCCTATGCCGAAGGCGTCTA	0.602																																																	0													74.0	83.0	80.0					17																	18023258		1956	4138	6094	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1144G>A	17.37:g.18023258G>A	ENSP00000205890:p.Glu382Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.E382K	ENST00000205890.5	37	c.1144	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504536	0.26949	.	.	ENSG00000091536	ENST00000205890	D	0.89415	-2.51	4.72	4.72	0.59763	.	.	.	.	.	D	0.85080	0.5615	L	0.27053	0.805	0.80722	D	1	D	0.61080	0.989	P	0.47573	0.55	D	0.86432	0.1761	9	0.56958	D	0.05	.	13.9053	0.63831	0.0:0.0:1.0:0.0	.	382	Q9UKN7	MYO15_HUMAN	K	382	ENSP00000205890:E382K	ENSP00000205890:E382K	E	+	1	0	MYO15A	17963983	0.008000	0.16893	0.342000	0.25602	0.046000	0.14306	1.061000	0.30542	2.569000	0.86673	0.561000	0.74099	GAA	MYO15A	-	NULL		0.602	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	G	NM_016239		18023258	+1	no_errors	ENST00000205890	ensembl	human	known	70_37	missense	SNP	0.655	A
NEB	4703	genome.wustl.edu	37	2	152409245	152409245	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:152409245G>T	ENST00000172853.10	-	100	14821	c.14674C>A	c.(14674-14676)Ctt>Att	p.L4892I	NEB_ENST00000603639.1_Missense_Mutation_p.L6593I|NEB_ENST00000409198.1_Missense_Mutation_p.L4892I|NEB_ENST00000427231.2_Missense_Mutation_p.L6593I|NEB_ENST00000397345.3_Missense_Mutation_p.L6593I|NEB_ENST00000604864.1_Missense_Mutation_p.L6593I			P20929	NEBU_HUMAN	nebulin	4892					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTGTGACAAGCTTGTAGTCA	0.433																																																	0													205.0	180.0	188.0					2																	152409245		1951	4154	6105	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.14674C>A	2.37:g.152409245G>T	ENSP00000172853:p.Leu4892Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.L6593I	ENST00000172853.10	37	c.19777		2	.	.	.	.	.	.	.	.	.	.	G	9.106	1.005439	0.19199	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.06687	3.4;3.39;3.37;3.27;3.4	6.06	-12.1	0.00011	.	0.274302	0.35320	N	0.003288	T	0.12092	0.0294	L	0.55481	1.735	0.25880	N	0.983604	B;D	0.61080	0.034;0.989	B;D	0.72338	0.04;0.977	T	0.15009	-1.0452	10	0.36615	T	0.2	.	8.1609	0.31198	0.2259:0.0946:0.535:0.1445	.	4892;1323	P20929;Q14215	NEBU_HUMAN;.	I	4892;6593;6593;941;1323;4892	ENSP00000386259:L4892I;ENSP00000380505:L6593I;ENSP00000416578:L6593I;ENSP00000410961:L1323I;ENSP00000172853:L4892I	ENSP00000172853:L4892I	L	-	1	0	NEB	152117491	0.000000	0.05858	0.279000	0.24732	0.302000	0.27658	-2.243000	0.01194	-2.023000	0.00937	-0.979000	0.02580	CTT	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.433	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152409245	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	0.000	T
MYO3B	140469	genome.wustl.edu	37	2	171258178	171258178	+	Silent	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:171258178C>T	ENST00000408978.4	+	18	2249	c.2106C>T	c.(2104-2106)ctC>ctT	p.L702L	MYO3B_ENST00000409044.3_Silent_p.L702L|MYO3B_ENST00000334231.6_Silent_p.L711L|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	702	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTAATACACTCCTGCAGCCAG	0.532																																																	0													53.0	51.0	52.0					2																	171258178		1965	4151	6116	SO:0001819	synonymous_variant	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2106C>T	2.37:g.171258178C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.L711	ENST00000408978.4	37	c.2133	CCDS42773.1	2																																																																																			MYO3B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.532	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1	C			171258178	+1	no_errors	ENST00000334231	ensembl	human	known	70_37	silent	SNP	0.998	T
NEIL3	55247	genome.wustl.edu	37	4	178274470	178274470	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr4:178274470C>A	ENST00000264596.3	+	8	1166	c.1048C>A	c.(1048-1050)Ctc>Atc	p.L350I	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	350					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AGATTCAGTGCTCAAGAGTGA	0.318								Base excision repair (BER), DNA glycosylases																																									0													71.0	73.0	72.0					4																	178274470		2203	4300	6503	SO:0001583	missense	55247			AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1048C>A	4.37:g.178274470C>A	ENSP00000264596:p.Leu350Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat	p.L350I	ENST00000264596.3	37	c.1048	CCDS3828.1	4	.	.	.	.	.	.	.	.	.	.	C	0.225	-1.025175	0.02061	.	.	ENSG00000109674	ENST00000264596	T	0.04275	3.66	5.41	-2.14	0.07123	.	0.782790	0.11826	N	0.525716	T	0.04003	0.0112	L	0.59436	1.845	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46247	-0.9205	10	0.19590	T	0.45	0.4886	0.6794	0.00872	0.2951:0.3119:0.1726:0.2205	.	350	Q8TAT5	NEIL3_HUMAN	I	350	ENSP00000264596:L350I	ENSP00000264596:L350I	L	+	1	0	NEIL3	178511464	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.224000	0.09164	-0.118000	0.11851	-1.095000	0.02154	CTC	NEIL3	-	NULL		0.318	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL3	HGNC	protein_coding	OTTHUMT00000361914.1	C	NM_018248		178274470	+1	no_errors	ENST00000264596	ensembl	human	known	70_37	missense	SNP	0.000	A
NFYC	4802	genome.wustl.edu	37	1	41236471	41236471	+	Missense_Mutation	SNP	G	G	A	rs200544060		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:41236471G>A	ENST00000308733.5	+	10	1354	c.1348G>A	c.(1348-1350)Ggg>Agg	p.G450R	NFYC_ENST00000427410.2_Missense_Mutation_p.G289R|NFYC_ENST00000372652.1_Missense_Mutation_p.G431R|NFYC_ENST00000372654.1_Missense_Mutation_p.G327R|NFYC_ENST00000372653.1_Missense_Mutation_p.G293R|NFYC_ENST00000372651.1_Missense_Mutation_p.G327R|NFYC_ENST00000440226.3_Missense_Mutation_p.G327R|NFYC_ENST00000447388.3_Missense_Mutation_p.G327R|NFYC_ENST00000456393.2_Missense_Mutation_p.G326R|NFYC_ENST00000425457.2_Missense_Mutation_p.G346R			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	450					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GCCCTCCGACGGGCAGGCCCC	0.647																																																	0													57.0	54.0	55.0					1																	41236471		2203	4300	6503	SO:0001583	missense	4802			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.1348G>A	1.37:g.41236471G>A	ENSP00000312617:p.Gly450Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold	p.G450R	ENST00000308733.5	37	c.1348		1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570363	0.86542	.	.	ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000456393;ENST00000372654;ENST00000372653;ENST00000372652;ENST00000372651;ENST00000440226;ENST00000308733	T;T;T;T;T;T;T;T;T;T	0.54866	0.55;1.17;1.21;1.19;1.17;1.27;0.95;1.17;1.17;0.97	5.51	5.51	0.81932	.	0.050682	0.85682	D	0.000000	T	0.67767	0.2928	L	0.51422	1.61	0.35551	D	0.803872	D;P;P;P;D;D;D	0.89917	0.999;0.943;0.553;0.862;1.0;1.0;0.997	D;P;B;B;D;D;P	0.71870	0.922;0.515;0.069;0.422;0.975;0.975;0.787	T	0.75051	-0.3454	10	0.87932	D	0	.	17.3161	0.87225	0.0:0.0:1.0:0.0	.	289;450;293;431;326;327;346	B4DW63;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.;NFYC_HUMAN;.;.;.;.;.	R	289;327;346;326;327;293;431;327;327;450	ENSP00000408315:G289R;ENSP00000404427:G327R;ENSP00000396620:G346R;ENSP00000408867:G326R;ENSP00000361738:G327R;ENSP00000361737:G293R;ENSP00000361736:G431R;ENSP00000361734:G327R;ENSP00000414299:G327R;ENSP00000312617:G450R	ENSP00000312617:G450R	G	+	1	0	NFYC	41009058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.287000	0.59001	2.764000	0.94973	0.558000	0.71614	GGG	NFYC	-	NULL		0.647	NFYC-007	KNOWN	basic	protein_coding	NFYC	HGNC	protein_coding	OTTHUMT00000020802.1	G	NM_014223		41236471	+1	no_errors	ENST00000308733	ensembl	human	known	70_37	missense	SNP	1.000	A
NOP58	51602	genome.wustl.edu	37	2	203149076	203149076	+	Silent	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:203149076G>A	ENST00000264279.5	+	5	532	c.306G>A	c.(304-306)ctG>ctA	p.L102L	NOP58_ENST00000467734.1_3'UTR	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	102					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						AGGAAAAGCTGAATCTCAGTT	0.333																																																	0													83.0	76.0	78.0					2																	203149076		2203	4300	6503	SO:0001819	synonymous_variant	51602				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.306G>A	2.37:g.203149076G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53SA4|Q6PK08|Q9P036|Q9UFN3	Silent	SNP	pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC	p.L102	ENST00000264279.5	37	c.306	CCDS2353.1	2																																																																																			NOP58	-	NULL		0.333	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP58	HGNC	protein_coding	OTTHUMT00000256313.2	G	NM_015934		203149076	+1	no_errors	ENST00000264279	ensembl	human	known	70_37	silent	SNP	1.000	A
NOTCH3	4854	genome.wustl.edu	37	19	15299118	15299118	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr19:15299118G>A	ENST00000263388.2	-	9	1495	c.1420C>T	c.(1420-1422)Cag>Tag	p.Q474*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	474	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGCTACTCTGACACTCGTCA	0.607																																																	0													54.0	45.0	48.0					19																	15299118		2203	4300	6503	SO:0001587	stop_gained	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1420C>T	19.37:g.15299118G>A	ENSP00000263388:p.Gln474*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UEB3|Q9UPL3|Q9Y6L8	Nonsense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.Q474*	ENST00000263388.2	37	c.1420	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	G	39	7.449279	0.98292	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	.	.	.	5.05	3.94	0.45596	.	0.370656	0.16184	N	0.225709	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	11.9637	0.53023	0.0:0.3588:0.6411:0.0	.	.	.	.	X	474;476	.	ENSP00000263388:Q474X	Q	-	1	0	NOTCH3	15160118	0.941000	0.31946	1.000000	0.80357	0.932000	0.56968	1.770000	0.38532	2.350000	0.79820	0.561000	0.74099	CAG	NOTCH3	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.607	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	G	NM_000435		15299118	-1	no_errors	ENST00000263388	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NRG2	9542	genome.wustl.edu	37	5	139422565	139422567	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	GCT	GCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr5:139422565_139422567delGCT	ENST00000361474.1	-	1	312_314	c.88_90delAGC	c.(88-90)agcdel	p.S30del	NRG2_ENST00000289409.4_In_Frame_Del_p.S30del|NRG2_ENST00000541337.1_In_Frame_Del_p.S30del|NRG2_ENST00000394770.1_In_Frame_Del_p.S30del|NRG2_ENST00000358522.3_In_Frame_Del_p.S30del|NRG2_ENST00000289422.7_In_Frame_Del_p.S30del|NRG2_ENST00000545385.1_In_Frame_Del_p.S30del	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	30	Poly-Ser.				embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			tgctcctctcgctgctgctgctg	0.675																																																	0									,,,,	46,59,2309		4,0,38,8,43,1114					,,,,	-1.7	0.1			4	25,109,4858		5,0,15,10,89,2377	no	codingComplex,codingComplex,codingComplex,codingComplex,codingComplex	NRG2	NM_013983.2,NM_013982.2,NM_013981.3,NM_004883.2,NM_001184935.1	,,,,	9,0,53,18,132,3491	A1A1,A1A2,A1R,A2A2,A2R,RR		2.6843,4.3496,3.2271	,,,,	,,,,		71,168,7167				SO:0001651	inframe_deletion	9542				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.88_90delAGC	5.37:g.139422574_139422576delGCT	ENSP00000354910:p.Ser30del	Somatic		WXS	Illumina HiSeq	Phase_IV		In_Frame_Del	DEL	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like	p.S30in_frame_del	ENST00000361474.1	37	c.90_88	CCDS4217.1	5																																																																																			NRG2	-	NULL		0.675	NRG2-001	KNOWN	basic|CCDS	protein_coding	NRG2	HGNC	protein_coding	OTTHUMT00000251340.1	GCT	NM_013982		139422567	-1	no_errors	ENST00000545385	ensembl	human	known	70_37	in_frame_del	DEL	0.962:0.973:0.994	-
NXF5	55998	genome.wustl.edu	37	X	101095505	101095505	+	Missense_Mutation	SNP	A	A	G			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:101095505A>G	ENST00000361708.2	-	10	1023	c.664T>C	c.(664-666)Tgc>Cgc	p.C222R	NXF5_ENST00000537026.1_Missense_Mutation_p.C222R|NXF5_ENST00000473265.2_Missense_Mutation_p.C222R			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	222					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						AAGGTGCTGCACAACGGGTTC	0.572																																																	0													90.0	77.0	82.0					X																	101095505		2132	4178	6310	SO:0001583	missense	55998			AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.664T>C	X.37:g.101095505A>G	ENSP00000355286:p.Cys222Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	pfam_Tap_RNA-bd	p.C222R	ENST00000361708.2	37	c.664		X	.	.	.	.	.	.	.	.	.	.	.	15.01	2.706795	0.48412	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.56275	0.47;0.47;0.47	1.86	1.86	0.25419	.	0.000000	0.85682	U	0.000000	T	0.66761	0.2822	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.66396	-0.5934	10	0.49607	T	0.09	.	7.3034	0.26434	1.0:0.0:0.0:0.0	.	222	A2RRM0	.	R	222	ENSP00000442401:C222R;ENSP00000426978:C222R;ENSP00000355286:C222R	ENSP00000263032:C222R	C	-	1	0	NXF5	100982161	1.000000	0.71417	0.036000	0.18154	0.101000	0.19017	6.008000	0.70739	1.038000	0.40049	0.220000	0.17776	TGC	NXF5	-	NULL		0.572	NXF5-201	KNOWN	basic	protein_coding	NXF5	HGNC	protein_coding		A			101095505	-1	no_errors	ENST00000263032	ensembl	human	known	70_37	missense	SNP	0.998	G
NRK	203447	genome.wustl.edu	37	X	105193672	105193672	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:105193672G>A	ENST00000243300.9	+	27	4762	c.4459G>A	c.(4459-4461)Gaa>Aaa	p.E1487K	NRK_ENST00000540278.1_Missense_Mutation_p.E68K|NRK_ENST00000428173.2_Missense_Mutation_p.E1488K	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1487	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAAGCAAATGAACAACTCTT	0.373										HNSCC(51;0.14)																																							0													84.0	75.0	78.0					X																	105193672		1886	4096	5982	SO:0001583	missense	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4459G>A	X.37:g.105193672G>A	ENSP00000434830:p.Glu1487Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.E1488K	ENST00000243300.9	37	c.4462		X	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490770	0.84962	.	.	ENSG00000123572	ENST00000243300;ENST00000428173;ENST00000540278	T;T;T	0.04809	3.55;3.55;3.55	5.96	5.96	0.96718	Citron-like (2);	0.000000	0.46145	D	0.000307	T	0.14056	0.0340	L	0.36672	1.1	0.36814	D	0.886062	D;D	0.69078	0.997;0.995	P;D	0.67103	0.908;0.949	T	0.01757	-1.1280	10	0.66056	D	0.02	.	16.3019	0.82825	0.0:0.0:1.0:0.0	.	68;1487	B7Z1I7;Q7Z2Y5	.;NRK_HUMAN	K	1487;1488;68	ENSP00000434830:E1487K;ENSP00000438378:E1488K;ENSP00000438148:E68K	ENSP00000434830:E1487K	E	+	1	0	NRK	105080328	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.461000	0.66699	2.509000	0.84616	0.600000	0.82982	GAA	NRK	-	pfam_Citron,smart_Citron		0.373	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	G	NM_198465		105193672	+1	no_errors	ENST00000428173	ensembl	human	known	70_37	missense	SNP	1.000	A
OR8U1	219417	genome.wustl.edu	37	11	56143873	56143873	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr11:56143873G>C	ENST00000302270.1	+	1	774	c.774G>C	c.(772-774)atG>atC	p.M258I		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TCATTTTTATGTACTTACAGC	0.483																																																	0													110.0	117.0	114.0					11																	56143873		2100	4263	6363	SO:0001583	missense	219417			AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.774G>C	11.37:g.56143873G>C	ENSP00000304188:p.Met258Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M258I	ENST00000302270.1	37	c.774	CCDS41647.1	11	.	.	.	.	.	.	.	.	.	.	G	11.46	1.646084	0.29246	.	.	ENSG00000172199	ENST00000302270	T	0.00145	8.67	5.56	4.64	0.57946	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.00271	0.0008	L	0.41492	1.28	0.24417	N	0.99463	D	0.76494	0.999	D	0.87578	0.998	T	0.51466	-0.8702	10	0.62326	D	0.03	.	3.9917	0.09539	0.1426:0.1286:0.5958:0.133	.	258	Q8NH10	OR8U1_HUMAN	I	258	ENSP00000304188:M258I	ENSP00000304188:M258I	M	+	3	0	OR8U1	55900449	0.000000	0.05858	1.000000	0.80357	0.044000	0.14063	-0.359000	0.07632	1.359000	0.45940	0.478000	0.44815	ATG	OR8U1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8U1	HGNC	protein_coding	OTTHUMT00000391607.1	G	NM_001005204		56143873	+1	no_errors	ENST00000302270	ensembl	human	known	70_37	missense	SNP	0.762	C
AKAP2	11217	genome.wustl.edu	37	9	112900327	112900327	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr9:112900327G>A	ENST00000259318.7	+	2	2017	c.1810G>A	c.(1810-1812)Gaa>Aaa	p.E604K	AKAP2_ENST00000434623.2_Missense_Mutation_p.E693K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E835K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E835K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E835K|AKAP2_ENST00000374525.1_Missense_Mutation_p.E693K|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E835K	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	604										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						ACAGGGACCTGAAGCGACTGT	0.532																																																	0													37.0	42.0	40.0					9																	112900327		2203	4300	6503	SO:0001583	missense	445815			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1810G>A	9.37:g.112900327G>A	ENSP00000259318:p.Glu604Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.E835K	ENST00000259318.7	37	c.2503	CCDS48003.1	9	.	.	.	.	.	.	.	.	.	.	G	5.847	0.340395	0.11069	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.48522	2.14;2.14;2.14;2.14;1.39;0.81;0.81;1.59	5.74	0.579	0.17397	.	1.698120	0.02847	N	0.128685	T	0.35278	0.0926	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.001;0.001;0.001;0.0	B;B;B;B;B;B;B;B	0.06405	0.0;0.002;0.001;0.002;0.001;0.002;0.002;0.002	T	0.19386	-1.0307	10	0.37606	T	0.19	-0.0471	7.3481	0.26674	0.0697:0.49:0.3181:0.1222	.	604;693;687;693;694;835;835;653	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	K	835;835;835;835;693;693;653;604	ENSP00000363654:E835K;ENSP00000305861:E835K;ENSP00000451476:E835K;ENSP00000421522:E835K;ENSP00000404782:E693K;ENSP00000363649:E693K;ENSP00000419268:E653K;ENSP00000259318:E604K	ENSP00000259318:E604K	E	+	1	0	PALM2-AKAP2;AKAP2	111940148	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.700000	0.25601	-0.078000	0.12730	-0.172000	0.13284	GAA	PALM2-AKAP2	-	NULL		0.532	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3	G	NM_001004065		112900327	+1	no_errors	ENST00000374530	ensembl	human	known	70_37	missense	SNP	0.000	A
PBX3	5090	genome.wustl.edu	37	9	128678118	128678118	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr9:128678118C>T	ENST00000373489.5	+	3	444	c.428C>T	c.(427-429)tCa>tTa	p.S143L	PBX3_ENST00000447726.2_Missense_Mutation_p.S68L|PBX3_ENST00000373483.2_Intron|PBX3_ENST00000342287.5_Missense_Mutation_p.S143L|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373487.4_Missense_Mutation_p.S143L	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	143					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GGAGGTTCTTCAGATAACTCT	0.507																																																	0													51.0	62.0	59.0					9																	128678118		2203	4300	6503	SO:0001583	missense	5090				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.428C>T	9.37:g.128678118C>T	ENSP00000362588:p.Ser143Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S143L	ENST00000373489.5	37	c.428	CCDS6865.1	9	.	.	.	.	.	.	.	.	.	.	C	9.634	1.137214	0.21123	.	.	ENSG00000167081	ENST00000373489;ENST00000342287;ENST00000373487;ENST00000447726;ENST00000538998	D;D;T;D;D	0.88586	-2.18;-2.16;1.91;-2.4;-2.3	5.87	4.98	0.66077	PBX (1);	0.116787	0.64402	D	0.000011	D	0.87018	0.6073	L	0.40543	1.245	0.80722	D	1	B;B;B	0.22211	0.044;0.066;0.001	B;B;B	0.36092	0.063;0.217;0.04	T	0.82934	-0.0211	10	0.29301	T	0.29	.	15.5104	0.75776	0.0:0.9336:0.0:0.0664	.	54;143;143	B7Z5Q0;Q5JS98;P40426	.;.;PBX3_HUMAN	L	143;143;143;68;54	ENSP00000362588:S143L;ENSP00000341990:S143L;ENSP00000362586:S143L;ENSP00000387456:S68L;ENSP00000444005:S54L	ENSP00000341990:S143L	S	+	2	0	PBX3	127717939	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	4.531000	0.60602	1.628000	0.50416	-0.150000	0.13652	TCA	PBX3	-	pfam_PBX		0.507	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PBX3	HGNC	protein_coding	OTTHUMT00000417765.1	C			128678118	+1	no_errors	ENST00000373489	ensembl	human	known	70_37	missense	SNP	1.000	T
PCDHA11	56138	genome.wustl.edu	37	5	140249735	140249735	+	Silent	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr5:140249735C>T	ENST00000398640.2	+	1	1047	c.1047C>T	c.(1045-1047)gtC>gtT	p.V349V	PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	349	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTGAAGTCGCCGTGACTT	0.547																																																	0													66.0	72.0	70.0					5																	140249735		2203	4300	6503	SO:0001819	synonymous_variant	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1047C>T	5.37:g.140249735C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN58|O75279	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V349	ENST00000398640.2	37	c.1047	CCDS47284.1	5																																																																																			PCDHA11	-	superfamily_Cadherin-like,pfscan_Cadherin		0.547	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	C	NM_018902		140249735	+1	no_errors	ENST00000398640	ensembl	human	known	70_37	silent	SNP	0.000	T
PDE1C	5137	genome.wustl.edu	37	7	31920462	31920462	+	Missense_Mutation	SNP	A	A	G			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr7:31920462A>G	ENST00000396191.1	-	3	595	c.140T>C	c.(139-141)tTg>tCg	p.L47S	PDE1C_ENST00000396184.3_Missense_Mutation_p.L47S|PDE1C_ENST00000321453.7_Missense_Mutation_p.L47S|PDE1C_ENST00000396182.2_Missense_Mutation_p.L47S|PDE1C_ENST00000396193.1_Missense_Mutation_p.L107S	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	47					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TTGTTTGACCAAAGACCGTAA	0.333																																																	0													118.0	114.0	115.0					7																	31920462		2203	4300	6503	SO:0001583	missense	5137			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.140T>C	7.37:g.31920462A>G	ENSP00000379494:p.Leu47Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.L47S	ENST00000396191.1	37	c.140	CCDS55099.1	7	.	.	.	.	.	.	.	.	.	.	A	23.4	4.415800	0.83449	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.80214	-1.35;-1.3;-1.3;-1.22;-1.22	5.43	5.43	0.79202	.	0.267304	0.38326	N	0.001736	D	0.88518	0.6458	M	0.69358	2.11	0.58432	D	0.999992	D;D;D	0.89917	0.997;0.998;1.0	D;D;D	0.87578	0.947;0.973;0.998	D	0.89725	0.3922	10	0.87932	D	0	.	15.4276	0.75065	1.0:0.0:0.0:0.0	.	47;107;47	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	S	107;47;47;47;47	ENSP00000379496:L107S;ENSP00000379494:L47S;ENSP00000318105:L47S;ENSP00000379487:L47S;ENSP00000379485:L47S	ENSP00000318105:L47S	L	-	2	0	PDE1C	31886987	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	9.257000	0.95545	2.190000	0.69967	0.482000	0.46254	TTG	PDE1C	-	NULL		0.333	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	HGNC	protein_coding	OTTHUMT00000328458.1	A			31920462	-1	no_errors	ENST00000321453	ensembl	human	known	70_37	missense	SNP	1.000	G
PKD1	5310	genome.wustl.edu	37	16	2168727	2168727	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr16:2168727G>A	ENST00000262304.4	-	4	687	c.479C>T	c.(478-480)tCc>tTc	p.S160F	PKD1_ENST00000423118.1_Missense_Mutation_p.S160F|RP11-304L19.2_ENST00000562027.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	160	LRRCT.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCAGCCAGGGAGCCAGGCCC	0.692																																																	0													1.0	1.0	1.0					16																	2168727		214	607	821	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.479C>T	16.37:g.2168727G>A	ENSP00000262304:p.Ser160Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.S160F	ENST00000262304.4	37	c.479	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	g	6.145	0.394959	0.11638	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.36699	1.24;1.24	4.58	2.29	0.28610	Cysteine-rich flanking region, C-terminal (1);Polycystin cation channel (1);	0.474042	0.21036	N	0.081256	T	0.19366	0.0465	L	0.33189	0.99	0.09310	N	1	P;P	0.42735	0.63;0.788	B;B	0.34242	0.178;0.157	T	0.21042	-1.0257	10	0.62326	D	0.03	.	3.4976	0.07661	0.0902:0.2038:0.4756:0.2305	.	160;160	P98161-3;P98161	.;PKD1_HUMAN	F	160;160;190	ENSP00000262304:S160F;ENSP00000399501:S160F	ENSP00000262304:S160F	S	-	2	0	PKD1	2108728	0.455000	0.25736	0.345000	0.25642	0.808000	0.45660	0.132000	0.15891	2.104000	0.64026	0.500000	0.49745	TCC	PKD1	-	smart_Cys-rich_flank_reg_C,tigrfam_Polycystin_cat		0.692	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2168727	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	missense	SNP	0.245	A
PLCL1	5334	genome.wustl.edu	37	2	198966046	198966047	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:198966046_198966047delAC	ENST00000428675.1	+	4	3355_3356	c.2957_2958delAC	c.(2956-2958)gacfs	p.D986fs	PLCL1_ENST00000437704.2_Frame_Shift_Del_p.D888fs	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	986					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAAATGGCGGACACAGTCCAGG	0.332																																																	0																																										SO:0001589	frameshift_variant	5334			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2957_2958delAC	2.37:g.198966048_198966049delAC	ENSP00000402861:p.Asp986fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MJ90|Q53SD3|Q7Z3S3	Frame_Shift_Del	DEL	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.T987fs	ENST00000428675.1	37	c.2957_2958	CCDS2326.2	2																																																																																			PLCL1	-	NULL		0.332	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	AC	NM_006226		198966047	+1	no_errors	ENST00000428675	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:0.999	-
PNLDC1	154197	genome.wustl.edu	37	6	160240375	160240375	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr6:160240375G>T	ENST00000610273.1	+	18	1661	c.1490G>T	c.(1489-1491)tGc>tTc	p.C497F	PNLDC1_ENST00000392167.3_Missense_Mutation_p.C508F	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	497						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AACGTCAACTGCCTGCTCCAG	0.622																																																	0													82.0	61.0	68.0					6																	160240375		2203	4300	6503	SO:0001583	missense	154197			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1490G>T	6.37:g.160240375G>T	ENSP00000476448:p.Cys497Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TAP7|Q8N7X5	Missense_Mutation	SNP	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.C497F	ENST00000610273.1	37	c.1490	CCDS5271.1	6	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675039	0.47781	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	5.86	5.86	0.93980	.	0.079994	0.56097	D	0.000037	T	0.57548	0.2061	L	0.29908	0.895	0.43503	D	0.995755	D;D	0.63880	0.993;0.989	P;P	0.61132	0.884;0.768	T	0.60984	-0.7154	9	0.66056	D	0.02	.	18.3634	0.90383	0.0:0.0:1.0:0.0	.	508;497	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	F	497;508	.	ENSP00000275275:C497F	C	+	2	0	PNLDC1	160160365	1.000000	0.71417	0.391000	0.26233	0.018000	0.09664	5.944000	0.70219	2.767000	0.95098	0.561000	0.74099	TGC	PNLDC1	-	NULL		0.622	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	PNLDC1	HGNC	protein_coding		G	NM_173516		160240375	+1	no_errors	ENST00000275275	ensembl	human	known	70_37	missense	SNP	0.563	T
PROSC	11212	genome.wustl.edu	37	8	37633451	37633451	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr8:37633451C>T	ENST00000328195.3	+	7	680	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	205					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	ATTGTCCCTCCGGGAGGAGCT	0.507																																																	0													204.0	201.0	202.0					8																	37633451		2203	4300	6503	SO:0001583	missense	11212			AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"""proline synthetase co-transcribed (bacterial homolog)"""				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.613C>T	8.37:g.37633451C>T	ENSP00000333551:p.Arg205Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FI94	Missense_Mutation	SNP	pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001	p.R205W	ENST00000328195.3	37	c.613	CCDS6096.1	8	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870450	0.72065	.	.	ENSG00000147471	ENST00000328195	T	0.48201	0.82	6.07	5.19	0.71726	Alanine racemase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	M	0.87900	2.915	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.76691	-0.2866	10	0.87932	D	0	.	15.4605	0.75353	0.0:0.9321:0.0:0.0679	.	205	O94903	PROSC_HUMAN	W	205	ENSP00000333551:R205W	ENSP00000333551:R205W	R	+	1	2	PROSC	37752609	0.997000	0.39634	0.997000	0.53966	0.432000	0.31715	1.796000	0.38794	2.884000	0.98904	0.655000	0.94253	CGG	PROSC	-	pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001		0.507	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSC	HGNC	protein_coding	OTTHUMT00000376796.1	C	NM_007198		37633451	+1	no_errors	ENST00000328195	ensembl	human	known	70_37	missense	SNP	1.000	T
PRRC2A	7916	genome.wustl.edu	37	6	31605302	31605302	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr6:31605302G>A	ENST00000376033.2	+	31	6647	c.6413G>A	c.(6412-6414)cGa>cAa	p.R2138Q	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R2138Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2138						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGGCCCTCCCGACGGGCAGAG	0.672																																																	0													52.0	65.0	61.0					6																	31605302		1510	2709	4219	SO:0001583	missense	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.6413G>A	6.37:g.31605302G>A	ENSP00000365201:p.Arg2138Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.R2138Q	ENST00000376033.2	37	c.6413	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	5.936	0.356761	0.11239	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01981	4.52;4.52	5.69	3.9	0.45041	.	0.156571	0.30210	N	0.010160	T	0.00724	0.0024	N	0.19112	0.55	0.20764	N	0.99986	B	0.09022	0.002	B	0.04013	0.001	T	0.48514	-0.9029	10	0.87932	D	0	-3.3997	9.3236	0.37980	0.1707:0.0:0.8293:0.0	.	2138	P48634	PRC2A_HUMAN	Q	2130;2119;2138;2138;1363	ENSP00000365175:R2138Q;ENSP00000365201:R2138Q	ENSP00000365175:R2138Q	R	+	2	0	PRRC2A	31713281	0.689000	0.27690	0.826000	0.32828	0.027000	0.11550	2.971000	0.49248	1.422000	0.47177	-0.150000	0.13652	CGA	PRRC2A	-	NULL		0.672	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	G	NM_080686		31605302	+1	no_errors	ENST00000376007	ensembl	human	known	70_37	missense	SNP	0.410	A
PSD4	23550	genome.wustl.edu	37	2	113943595	113943595	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:113943595C>T	ENST00000245796.6	+	5	1586	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L	PSD4_ENST00000441564.3_Missense_Mutation_p.S436L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	464					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCCTGCATCGTCCCAGGAG	0.617																																																	0													49.0	48.0	49.0					2																	113943595		2203	4300	6503	SO:0001583	missense	23550			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1391C>T	2.37:g.113943595C>T	ENSP00000245796:p.Ser464Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.S464L	ENST00000245796.6	37	c.1391	CCDS33276.1	2	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477538	0.44044	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.11712	2.75;2.79	5.17	4.22	0.49857	.	0.550981	0.15487	N	0.259750	T	0.07234	0.0183	L	0.32530	0.975	0.21184	N	0.999762	P;P;P	0.46327	0.569;0.876;0.804	B;B;B	0.34652	0.086;0.187;0.091	T	0.29336	-1.0015	10	0.32370	T	0.25	.	10.0011	0.41929	0.2155:0.7845:0.0:0.0	.	122;436;464	Q59HG0;Q8NDX1-2;Q8NDX1	.;.;PSD4_HUMAN	L	464;436	ENSP00000245796:S464L;ENSP00000413997:S436L	ENSP00000245796:S464L	S	+	2	0	PSD4	113660066	0.001000	0.12720	0.073000	0.20177	0.641000	0.38312	1.089000	0.30890	2.688000	0.91661	0.563000	0.77884	TCG	PSD4	-	NULL		0.617	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	HGNC	protein_coding	OTTHUMT00000330789.1	C	NM_012455		113943595	+1	no_errors	ENST00000245796	ensembl	human	known	70_37	missense	SNP	0.009	T
PTEN	5728	genome.wustl.edu	37	10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	rs121913292|rs121909229		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	151	Substitution - Missense(81)|Whole gene deletion(37)|Deletion - Frameshift(23)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(1)	endometrium(77)|prostate(18)|central_nervous_system(16)|lung(7)|breast(7)|ovary(7)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|thyroid(2)|soft_tissue(2)|urinary_tract(1)	GRCh37	CM981670|CM991081	PTEN	M	rs121909229						139.0	129.0	133.0					10																	89692905		2203	4300	6503	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.389G>A	10.37:g.89692905G>A	ENSP00000361021:p.Arg130Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R130Q	ENST00000371953.3	37	c.389	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.637233	0.96693	.	.	ENSG00000171862	ENST00000371953	D	0.98345	-4.88	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.96889	3.9	0.80722	A	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98503	1.0615	8	.	.	.	-1.7685	18.7776	0.91918	0.0:0.0:1.0:0.0	.	130	P60484	PTEN_HUMAN	Q	130	ENSP00000361021:R130Q	.	R	+	2	0	PTEN	89682885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	CGA	PTEN	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	G	NM_000314		89692905	+1	no_errors	ENST00000371953	ensembl	human	known	70_37	missense	SNP	1.000	A
PVRL1	5818	genome.wustl.edu	37	11	119548547	119548547	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr11:119548547C>A	ENST00000264025.3	-	3	981	c.451G>T	c.(451-453)Gag>Tag	p.E151*	PVRL1_ENST00000341398.2_Nonsense_Mutation_p.E151*|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Nonsense_Mutation_p.E151*	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	151	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TGGGTACCCTCTATCCAATTG	0.587																																																	0													82.0	60.0	68.0					11																	119548547		2199	4295	6494	SO:0001587	stop_gained	5818			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.451G>T	11.37:g.119548547C>A	ENSP00000264025:p.Glu151*	Somatic		WXS	Illumina HiSeq	Phase_IV	O75465|Q2M3D3|Q9HBE6|Q9HBW2	Nonsense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E151*	ENST00000264025.3	37	c.451	CCDS8426.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.777467	0.96929	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	.	.	.	5.56	5.56	0.83823	.	0.146393	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5166	0.90937	0.0:1.0:0.0:0.0	.	.	.	.	X	151	.	.	E	-	1	0	PVRL1	119053757	0.999000	0.42202	0.992000	0.48379	0.932000	0.56968	5.111000	0.64628	2.629000	0.89072	0.561000	0.74099	GAG	PVRL1	-	pfam_CD80_C2-set		0.587	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL1	HGNC	protein_coding	OTTHUMT00000388231.1	C			119548547	-1	no_errors	ENST00000264025	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PWP1	11137	genome.wustl.edu	37	12	108086770	108086770	+	Intron	SNP	C	C	G			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr12:108086770C>G	ENST00000412830.3	+	5	573				PWP1_ENST00000541166.1_Intron	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)						transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TTTTTCCTCTCACTTAGGAAC	0.363																																																	0													102.0	103.0	103.0					12																	108086770		2203	4300	6503	SO:0001627	intron_variant	11137			BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"""WD repeat domain containing"""	17015	protein-coding gene	gene with protein product	"""endonuclein"""					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.406-7C>G	12.37:g.108086770C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3R6|Q7Z3X9	Missense_Mutation	SNP	NULL	p.H143D	ENST00000412830.3	37	c.427	CCDS9114.1	12																																																																																			PWP1	-	NULL		0.363	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP1	HGNC	protein_coding	OTTHUMT00000406539.1	C	NM_007062		108086770	+1	no_errors	ENST00000552760	ensembl	human	known	70_37	missense	SNP	0.000	G
RAX	30062	genome.wustl.edu	37	18	56936292	56936292	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr18:56936292G>A	ENST00000334889.3	-	3	1171	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	RAX_ENST00000256852.7_3'UTR	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	329					camera-type eye development (GO:0043010)|hypothalamus development (GO:0021854)|limb development (GO:0060173)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		GCTTTCAGACGCAGCGCCGCG	0.716																																					GBM(150;770 1898 17679 24325 37807)												0													25.0	24.0	24.0					18																	56936292		2181	4278	6459	SO:0001583	missense	30062			AF115392	CCDS11972.1	18q21.31	2011-06-20			ENSG00000134438	ENSG00000134438		"""Homeoboxes / PRD class"""	18662	protein-coding gene	gene with protein product		601881				10625658, 10766016, 14662654	Standard	NM_013435		Approved	RX	uc002lhx.3	Q9Y2V3	OTTHUMG00000132757	ENST00000334889.3:c.985C>T	18.37:g.56936292G>A	ENSP00000334813:p.Arg329Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86V11	Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.R329C	ENST00000334889.3	37	c.985	CCDS11972.1	18	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238580	0.79800	.	.	ENSG00000134438	ENST00000334889	D	0.99985	-11.94	4.45	4.45	0.53987	Paired-like homeodomain protein, OAR (2);	0.000000	0.85682	D	0.000000	D	0.99985	0.9996	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.64687	0.928	D	0.93101	0.6508	10	0.87932	D	0	.	10.0215	0.42046	0.0:0.0:0.6711:0.3289	.	329	Q9Y2V3	RX_HUMAN	C	329	ENSP00000334813:R329C	ENSP00000334813:R329C	R	-	1	0	RAX	55087272	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.664000	0.46783	2.018000	0.59344	0.561000	0.74099	CGT	RAX	-	pfam_OAR_dom,pfscan_OAR_dom		0.716	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAX	HGNC	protein_coding	OTTHUMT00000256128.2	G			56936292	-1	no_errors	ENST00000334889	ensembl	human	known	70_37	missense	SNP	1.000	A
RBM46	166863	genome.wustl.edu	37	4	155718042	155718042	+	Silent	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr4:155718042C>T	ENST00000281722.3	+	2	373	c.138C>T	c.(136-138)ggC>ggT	p.G46G	RBM46_ENST00000514866.1_Silent_p.G46G|RBM46_ENST00000510397.1_Silent_p.G46G	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	46							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GGAAATTTGGCGGTCCTCCTC	0.378																																																	0													109.0	105.0	106.0					4																	155718042		2203	4300	6503	SO:0001819	synonymous_variant	166863			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.138C>T	4.37:g.155718042C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWU8|B4DZ27	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.G46	ENST00000281722.3	37	c.138	CCDS3790.1	4																																																																																			RBM46	-	tigrfam_HnRNP_R/Q_splicing_fac		0.378	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM46	HGNC	protein_coding	OTTHUMT00000365259.1	C	NM_144979		155718042	+1	no_errors	ENST00000281722	ensembl	human	known	70_37	silent	SNP	1.000	T
RET	5979	genome.wustl.edu	37	10	43617418	43617418	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr10:43617418G>T	ENST00000355710.3	+	16	2987	c.2755G>T	c.(2755-2757)Gca>Tca	p.A919S	RET_ENST00000340058.5_Missense_Mutation_p.A919S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	919	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TAAATGGATGGCAATTGAATC	0.438		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	0													261.0	243.0	249.0					10																	43617418		2203	4300	6503	SO:0001583	missense	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2755G>T	10.37:g.43617418G>T	ENSP00000347942:p.Ala919Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A919S	ENST00000355710.3	37	c.2755	CCDS7200.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.633806	0.96682	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.94862	-3.54;-3.54	5.43	5.43	0.79202	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96244	0.8775	L	0.52126	1.63	0.80722	D	1	P;P;D	0.58970	0.64;0.888;0.984	P;P;D	0.65443	0.467;0.84;0.935	D	0.96404	0.9299	10	0.72032	D	0.01	.	19.6058	0.95582	0.0:0.0:1.0:0.0	.	665;919;919	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	S	919	ENSP00000347942:A919S;ENSP00000344798:A919S	ENSP00000344798:A919S	A	+	1	0	RET	42937424	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.799000	0.99117	2.722000	0.93159	0.655000	0.94253	GCA	RET	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.438	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	G	NM_020975		43617418	+1	no_errors	ENST00000355710	ensembl	human	known	70_37	missense	SNP	1.000	T
RGS19	10287	genome.wustl.edu	37	20	62705529	62705529	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr20:62705529C>A	ENST00000395042.1	-	5	696	c.430G>T	c.(430-432)Gag>Tag	p.E144*	RGS19_ENST00000332298.5_Nonsense_Mutation_p.E144*|RGS19_ENST00000493165.1_5'Flank	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	144	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					ACGTAGTCCTCGTAGATGAGC	0.627																																																	0													113.0	94.0	100.0					20																	62705529		2203	4300	6503	SO:0001587	stop_gained	10287			X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700		"""Regulators of G-protein signaling"""	13735	protein-coding gene	gene with protein product		605071	"""regulator of G-protein signalling 19"""			8524874	Standard	XM_005260183		Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.430G>T	20.37:g.62705529C>A	ENSP00000378483:p.Glu144*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K216|E1P5G9|Q53XN0|Q8TD60	Nonsense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E144*	ENST00000395042.1	37	c.430	CCDS13555.1	20	.	.	.	.	.	.	.	.	.	.	C	38	7.151135	0.98099	.	.	ENSG00000171700	ENST00000395042;ENST00000332298	.	.	.	5.2	5.2	0.72013	.	0.061993	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	18.9118	0.92489	0.0:1.0:0.0:0.0	.	.	.	.	X	144	.	ENSP00000333194:E144X	E	-	1	0	RGS19	62175973	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	7.490000	0.81461	2.704000	0.92352	0.563000	0.77884	GAG	RGS19	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal		0.627	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS19	HGNC	protein_coding	OTTHUMT00000080273.1	C	NM_005873		62705529	-1	no_errors	ENST00000332298	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RRP1	8568	genome.wustl.edu	37	21	45215091	45215091	+	Missense_Mutation	SNP	G	G	A	rs367993051		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr21:45215091G>A	ENST00000497547.1	+	5	499	c.382G>A	c.(382-384)Gag>Aag	p.E128K		NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		GGTCCTGAACGAGTCCTTGAA	0.592																																																	0								G	LYS/GLU	1,4245		0,1,2122	135.0	148.0	144.0		382	3.6	0.9	21		144	0,8470		0,0,4235	no	missense	RRP1	NM_003683.5	56	0,1,6357	AA,AG,GG		0.0,0.0236,0.0079	probably-damaging	128/462	45215091	1,12715	2123	4235	6358	SO:0001583	missense	8568			U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"""DNA segment on chromosome 21 (unique) 2056 expressed sequence"", ""Nnp1 homolog, nucleolar protein (Drosophila)"""	610653	"""ribosomal RNA processing 1 homolog (S. cerevisiae)"""			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.382G>A	21.37:g.45215091G>A	ENSP00000417464:p.Glu128Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIB2	Missense_Mutation	SNP	pfam_Nop52	p.E128K	ENST00000497547.1	37	c.382	CCDS42951.1	21	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422291	0.83559	2.36E-4	0.0	ENSG00000160214	ENST00000497547;ENST00000400387	T	0.46063	0.88	4.55	3.59	0.41128	.	0.162081	0.56097	D	0.000034	T	0.51669	0.1688	L	0.58583	1.82	0.44149	D	0.996949	D;D	0.71674	0.996;0.998	P;P	0.58130	0.833;0.833	T	0.55444	-0.8140	10	0.87932	D	0	.	10.1489	0.42780	0.0:0.3296:0.6704:0.0	.	128;128	B4DZM3;P56182	.;RRP1_HUMAN	K	128	ENSP00000417464:E128K	ENSP00000383237:E128K	E	+	1	0	RRP1	44039519	0.984000	0.35163	0.853000	0.33588	0.712000	0.41017	2.340000	0.43974	2.239000	0.73571	0.655000	0.94253	GAG	RRP1	-	pfam_Nop52		0.592	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP1	HGNC	protein_coding	OTTHUMT00000195680.1	G	NM_003683		45215091	+1	no_errors	ENST00000497547	ensembl	human	known	70_37	missense	SNP	0.993	A
SEC16A	9919	genome.wustl.edu	37	9	139357483	139357483	+	Silent	SNP	C	C	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr9:139357483C>A	ENST00000371706.3	-	10	4248	c.4215G>T	c.(4213-4215)acG>acT	p.T1405T	SEC16A_ENST00000313050.7_Silent_p.T1583T|SEC16A_ENST00000290037.6_Silent_p.T1405T|SEC16A_ENST00000431893.2_Silent_p.T1405T			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1405					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTGCCTCATTCGTGAAATCAA	0.587																																																	0													84.0	95.0	92.0					9																	139357483		2064	4199	6263	SO:0001819	synonymous_variant	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.4215G>T	9.37:g.139357483C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	NULL	p.T1583	ENST00000371706.3	37	c.4749		9																																																																																			SEC16A	-	NULL		0.587	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	C	XM_088459		139357483	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	silent	SNP	0.006	A
SEC31A	22872	genome.wustl.edu	37	4	83793119	83793119	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr4:83793119G>A	ENST00000395310.2	-	7	942	c.760C>T	c.(760-762)Cgt>Tgt	p.R254C	SEC31A_ENST00000500777.2_Missense_Mutation_p.R254C|SEC31A_ENST00000513858.1_Missense_Mutation_p.R254C|SEC31A_ENST00000508479.1_Missense_Mutation_p.R254C|SEC31A_ENST00000311785.7_Missense_Mutation_p.R254C|SEC31A_ENST00000448323.1_Missense_Mutation_p.R254C|SEC31A_ENST00000505984.1_Missense_Mutation_p.R254C|SEC31A_ENST00000355196.2_Missense_Mutation_p.R254C|SEC31A_ENST00000264405.5_5'Flank|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000443462.2_Missense_Mutation_p.R249C|SEC31A_ENST00000505472.1_Missense_Mutation_p.R254C|SEC31A_ENST00000326950.5_Missense_Mutation_p.R254C|SEC31A_ENST00000509142.1_Missense_Mutation_p.R254C|SEC31A_ENST00000432794.1_Missense_Mutation_p.R254C|SEC31A_ENST00000508502.1_Missense_Mutation_p.R254C|SEC31A_ENST00000348405.4_Missense_Mutation_p.R254C	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	254	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCCAGGACACGAAGTGGAGAG	0.463																																																	0													117.0	93.0	101.0					4																	83793119		2203	4300	6503	SO:0001583	missense	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.760C>T	4.37:g.83793119G>A	ENSP00000378721:p.Arg254Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R254C	ENST00000395310.2	37	c.760	CCDS3596.1	4	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497536	0.85069	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000505984;ENST00000508479;ENST00000503058	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.64991	1.18;1.04;2.21;1.52;1.07;2.09;2.21;1.18;1.07;0.96;1.04;2.21;2.21;2.18;2.1;-0.13	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.167745	0.52532	D	0.000063	T	0.80243	0.4587	M	0.77406	2.37	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.988;0.996;0.998;0.999;0.999;0.984;0.999;0.999;0.994	P;P;P;P;D;P;P;P;P	0.66847	0.893;0.863;0.804;0.863;0.947;0.663;0.886;0.885;0.846	T	0.82018	-0.0665	10	0.87932	D	0	-3.4617	19.718	0.96131	0.0:0.0:1.0:0.0	.	249;254;254;254;254;254;254;254;254	B4DIW6;B7ZL00;O94979-5;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979	.;.;.;.;.;.;.;.;SC31A_HUMAN	C	254;254;254;249;254;254;254;254;254;254;254;254;254;254;254;225	ENSP00000337602:R254C;ENSP00000426886:R254C;ENSP00000378721:R254C;ENSP00000408027:R249C;ENSP00000426569:R254C;ENSP00000407944:R254C;ENSP00000400926:R254C;ENSP00000325087:R254C;ENSP00000309070:R254C;ENSP00000421633:R254C;ENSP00000421464:R254C;ENSP00000424635:R254C;ENSP00000347329:R254C;ENSP00000424451:R254C;ENSP00000425999:R254C;ENSP00000425056:R225C	ENSP00000309070:R254C	R	-	1	0	SEC31A	84012143	1.000000	0.71417	0.952000	0.39060	0.877000	0.50540	7.344000	0.79328	2.645000	0.89757	0.585000	0.79938	CGT	SEC31A	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.463	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	G	NM_016211		83793119	-1	no_errors	ENST00000432794	ensembl	human	known	70_37	missense	SNP	1.000	A
SERPINA9	327657	genome.wustl.edu	37	14	94936056	94936056	+	Missense_Mutation	SNP	G	G	T	rs199717292		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr14:94936056G>T	ENST00000380365.3	-	2	200	c.122C>A	c.(121-123)gCc>gAc	p.A41D	SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000337425.5_Missense_Mutation_p.A59D|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000298845.7_Missense_Mutation_p.A59D			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	41					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CACCTGTGAGGCAGGGGTGCT	0.572																																																	0													86.0	89.0	88.0					14																	94936056		2021	4181	6202	SO:0001583	missense	327657			AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.122C>A	14.37:g.94936056G>T	ENSP00000369723:p.Ala41Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Nonsense_Mutation	SNP	NULL	p.C86*	ENST00000380365.3	37	c.258		14	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753427	0.31046	.	.	ENSG00000170054	ENST00000298845;ENST00000337425;ENST00000380365	D;D;D	0.87966	-2.32;-2.32;-2.32	3.99	1.19	0.21007	Serpin domain (1);	2.716750	0.02465	U	0.086959	T	0.73016	0.3533	N	0.08118	0	0.09310	N	1	B;B;P	0.47677	0.014;0.275;0.899	B;B;B	0.39258	0.009;0.142;0.295	T	0.69300	-0.5181	10	0.34782	T	0.22	.	4.3254	0.11038	0.2101:0.3408:0.4491:0.0	.	41;59;59	Q86WD7;Q86WD7-7;Q86WD7-2	SPA9_HUMAN;.;.	D	59;59;41	ENSP00000298845:A59D;ENSP00000337133:A59D;ENSP00000369723:A41D	ENSP00000298845:A59D	A	-	2	0	SERPINA9	94005809	0.000000	0.05858	0.001000	0.08648	0.475000	0.33008	0.121000	0.15667	0.685000	0.31468	0.313000	0.20887	GCC	SERPINA9	-	NULL		0.572	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	SERPINA9	HGNC	protein_coding	OTTHUMT00000395803.2	G	NM_175739		94936056	-1	no_errors	ENST00000538527	ensembl	human	known	70_37	nonsense	SNP	0.001	T
SHISA5	51246	genome.wustl.edu	37	3	48538599	48538599	+	Silent	SNP	G	G	A	rs149007494		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:48538599G>A	ENST00000296444.2	-	2	540	c.204C>T	c.(202-204)agC>agT	p.S68S	SHISA5_ENST00000444115.1_Silent_p.S37S|SHISA5_ENST00000442747.1_Silent_p.S37S|SHISA5_ENST00000443308.2_Silent_p.S68S	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	68					intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			large_intestine(1)|lung(1)	2						ACCTTTCCTCGCTCCACACAA	0.572																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	148.0	117.0	128.0		204	-4.0	0.0	3	dbSNP_134	128	0,8600		0,0,4300	no	coding-synonymous	SHISA5	NM_016479.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		68/241	48538599	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51246			AF520698	CCDS2770.1, CCDS63621.1, CCDS63622.1, CCDS63623.1	3p21.31	2013-07-31	2013-07-31		ENSG00000164054	ENSG00000164054		"""Shisa homologs"""	30376	protein-coding gene	gene with protein product		607290	"""shisa homolog 5 (Xenopus laevis)"""			11042152, 12135983	Standard	NM_016479		Approved	SCOTIN, hShisa5	uc011bbk.1	Q8N114	OTTHUMG00000133529	ENST00000296444.2:c.204C>T	3.37:g.48538599G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW99|F8W9N8|Q69YY9|Q7Z433|Q8NHL9|Q96MW8|Q9BV58	Silent	SNP	NULL	p.S68	ENST00000296444.2	37	c.204	CCDS2770.1	3																																																																																			SHISA5	-	NULL		0.572	SHISA5-001	KNOWN	basic|CCDS	protein_coding	SHISA5	HGNC	protein_coding	OTTHUMT00000257504.3	G	NM_016479		48538599	-1	no_errors	ENST00000296444	ensembl	human	known	70_37	silent	SNP	0.000	A
SHOC2	8036	genome.wustl.edu	37	10	112724609	112724609	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr10:112724609C>T	ENST00000369452.4	+	2	838	c.493C>T	c.(493-495)Ctt>Ttt	p.L165F	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Missense_Mutation_p.L165F	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	165					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GCCTGACTCTCTTGATAACTT	0.423																																																	0													85.0	90.0	88.0					10																	112724609		2203	4298	6501	SO:0001583	missense	8036			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.493C>T	10.37:g.112724609C>T	ENSP00000358464:p.Leu165Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L165F	ENST00000369452.4	37	c.493	CCDS7568.1	10	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780943	0.49891	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.38560	1.13;1.13;1.18	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	L	0.41079	1.255	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.78314	0.991;0.98	T	0.56366	-0.7991	10	0.52906	T	0.07	.	20.0371	0.97565	0.0:1.0:0.0:0.0	.	165;165	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	F	165;165;1	ENSP00000265277:L165F;ENSP00000358464:L165F;ENSP00000408275:L1F	ENSP00000265277:L165F	L	+	1	0	SHOC2	112714599	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	6.066000	0.71185	2.734000	0.93682	0.655000	0.94253	CTT	SHOC2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.423	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHOC2	HGNC	protein_coding	OTTHUMT00000050355.1	C	NM_007373		112724609	+1	no_errors	ENST00000369452	ensembl	human	known	70_37	missense	SNP	1.000	T
SI	6476	genome.wustl.edu	37	3	164700184	164700184	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:164700184G>T	ENST00000264382.3	-	47	5324	c.5262C>A	c.(5260-5262)agC>agA	p.S1754R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1754	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCAATATAGTGCTTGTTAAGG	0.323										HNSCC(35;0.089)																																							0													102.0	100.0	101.0					3																	164700184		2202	4300	6502	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5262C>A	3.37:g.164700184G>T	ENSP00000264382:p.Ser1754Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.S1754R	ENST00000264382.3	37	c.5262	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	4.595	0.110654	0.08780	.	.	ENSG00000090402	ENST00000264382	D	0.89485	-2.52	4.56	1.7	0.24286	.	0.217894	0.47852	D	0.000206	D	0.85531	0.5718	M	0.84683	2.71	0.31560	N	0.657661	P	0.35982	0.531	B	0.30646	0.118	T	0.80266	-0.1454	10	0.26408	T	0.33	.	6.3466	0.21353	0.3157:0.0:0.6843:0.0	.	1754	P14410	SUIS_HUMAN	R	1754	ENSP00000264382:S1754R	ENSP00000264382:S1754R	S	-	3	2	SI	166182878	0.998000	0.40836	0.964000	0.40570	0.160000	0.22226	0.469000	0.22067	0.618000	0.30179	0.591000	0.81541	AGC	SI	-	NULL		0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	G	NM_001041		164700184	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	missense	SNP	0.964	T
SLC12A3	6559	genome.wustl.edu	37	16	56906600	56906600	+	Missense_Mutation	SNP	T	T	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr16:56906600T>A	ENST00000563236.1	+	8	1022	c.997T>A	c.(997-999)Tgg>Agg	p.W333R	SLC12A3_ENST00000438926.2_Missense_Mutation_p.W333R|SLC12A3_ENST00000262502.5_Missense_Mutation_p.W332R|SLC12A3_ENST00000566786.1_Missense_Mutation_p.W332R			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	333					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GGTGCCTGACTGGCGGGGTCC	0.577																																																	0													79.0	71.0	73.0					16																	56906600		2198	4300	6498	SO:0001583	missense	6559				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.997T>A	16.37:g.56906600T>A	ENSP00000456149:p.Trp333Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MSJ2|C9JNN9	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.W333R	ENST00000563236.1	37	c.997	CCDS58464.1	16	.	.	.	.	.	.	.	.	.	.	T	22.1	4.244526	0.79912	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.72	5.72	0.89469	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	T	0.79907	0.4527	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	0.989;1.0;1.0	P;D;D	0.87578	0.831;0.998;0.997	T	0.82612	-0.0371	9	0.87932	D	0	.	15.9826	0.80125	0.0:0.0:0.0:1.0	.	332;333;333	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	R	332;333	.	ENSP00000262502:W333R	W	+	1	0	SLC12A3	55464101	1.000000	0.71417	0.998000	0.56505	0.793000	0.44817	7.945000	0.87732	2.182000	0.69389	0.459000	0.35465	TGG	SLC12A3	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.577	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	HGNC	protein_coding	OTTHUMT00000432337.1	T			56906600	+1	no_errors	ENST00000438926	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC26A8	116369	genome.wustl.edu	37	6	35911729	35911729	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr6:35911729C>T	ENST00000490799.1	-	20	3214	c.2861G>A	c.(2860-2862)cGc>cAc	p.R954H	SLC26A8_ENST00000355574.2_Missense_Mutation_p.R954H|SLC26A8_ENST00000394602.2_Missense_Mutation_p.R849H	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CATAGGATGGCGTCTCCTCTC	0.488																																																	0													186.0	169.0	175.0					6																	35911729		2203	4300	6503	SO:0001583	missense	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2861G>A	6.37:g.35911729C>T	ENSP00000417638:p.Arg954His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.R954H	ENST00000490799.1	37	c.2861	CCDS4813.1	6	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891600	0.33442	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.95137	-3.29;-3.62;-3.29	4.35	-6.02	0.02192	.	2.073370	0.02019	N	0.047629	T	0.76147	0.3947	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.06405	0.001;0.001;0.002	T	0.70887	-0.4750	10	0.25106	T	0.35	.	14.7054	0.69186	0.0:0.1544:0.0:0.8456	.	954;849;536	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	H	954;849;954	ENSP00000417638:R954H;ENSP00000378100:R849H;ENSP00000347778:R954H	ENSP00000347778:R954H	R	-	2	0	SLC26A8	36019707	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.373000	0.01072	-1.390000	0.02087	-0.258000	0.10820	CGC	SLC26A8	-	NULL		0.488	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A8	HGNC	protein_coding	OTTHUMT00000040325.2	C			35911729	-1	no_errors	ENST00000355574	ensembl	human	known	70_37	missense	SNP	0.000	T
SLC2A8	29988	genome.wustl.edu	37	9	130167088	130167088	+	Intron	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr9:130167088C>T	ENST00000373371.3	+	8	1065				SLC2A8_ENST00000373352.1_Intron|SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000485806.1_3'UTR	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8						carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)	p.?(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						GCCGCCCTCCCGCCTGCAGGT	0.701																																																	1	Unknown(1)	endometrium(1)											36.0	33.0	34.0					9																	130167088		2203	4297	6500	SO:0001627	intron_variant	29988			AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"""Solute carriers"""	13812	protein-coding gene	gene with protein product		605245	"""solute carrier family 2 (facilitated glucose transporter) member 8"""			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.977-9C>T	9.37:g.130167088C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WUZ9|Q9NSC4	RNA	SNP	-	NULL	ENST00000373371.3	37	NULL	CCDS6870.1	9																																																																																			SLC2A8	-	-		0.701	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A8	HGNC	protein_coding	OTTHUMT00000054177.1	C	NM_014580		130167088	+1	no_errors	ENST00000485806	ensembl	human	known	70_37	rna	SNP	0.000	T
SLC34A3	142680	genome.wustl.edu	37	9	140128658	140128658	+	Silent	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr9:140128658C>T	ENST00000538474.1	+	10	1247	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	SLC34A3_ENST00000361134.2_Silent_p.L341L	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	341					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCTGGTCCTCATAGTCAAGC	0.687																																																	0													31.0	29.0	30.0					9																	140128658		2192	4295	6487	SO:0001819	synonymous_variant	142680			AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1023C>T	9.37:g.140128658C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2BFA1	Silent	SNP	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.L341	ENST00000538474.1	37	c.1023	CCDS7038.1	9																																																																																			SLC34A3	-	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt		0.687	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A3	HGNC	protein_coding	OTTHUMT00000254712.1	C	NM_080877		140128658	+1	no_errors	ENST00000361134	ensembl	human	known	70_37	silent	SNP	0.998	T
SLC6A9	6536	genome.wustl.edu	37	1	44467157	44467157	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:44467157C>T	ENST00000360584.2	-	9	1515	c.1324G>A	c.(1324-1326)Gtg>Atg	p.V442M	SLC6A9_ENST00000372306.3_Missense_Mutation_p.V369M|SLC6A9_ENST00000475075.2_Missense_Mutation_p.V258M|SLC6A9_ENST00000357730.2_Missense_Mutation_p.V388M|SLC6A9_ENST00000537678.1_Missense_Mutation_p.V304M|SLC6A9_ENST00000372307.3_Missense_Mutation_p.V304M|SLC6A9_ENST00000372310.3_Missense_Mutation_p.V369M	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	442					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGGTAAGCCACGAAGGCCAGG	0.607																																																	0													100.0	99.0	99.0					1																	44467157		2203	4300	6503	SO:0001583	missense	6536			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1324G>A	1.37:g.44467157C>T	ENSP00000353791:p.Val442Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1	p.V442M	ENST00000360584.2	37	c.1324	CCDS41317.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360284	0.82353	.	.	ENSG00000196517	ENST00000372307;ENST00000372306;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730;ENST00000537678	T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.88749	0.6521	M	0.81112	2.525	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.996;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.71870	0.954;0.909;0.975;0.961;0.961;0.969	D	0.89959	0.4085	10	0.87932	D	0	.	19.1833	0.93632	0.0:1.0:0.0:0.0	.	373;369;304;369;388;442	B7Z3W8;B7Z8W5;B7Z3A9;P48067-2;P48067-3;P48067	.;.;.;.;.;SC6A9_HUMAN	M	304;369;369;258;442;388;304	ENSP00000361381:V304M;ENSP00000361380:V369M;ENSP00000361384:V369M;ENSP00000434460:V258M;ENSP00000353791:V442M;ENSP00000350362:V388M;ENSP00000442523:V304M	ENSP00000350362:V388M	V	-	1	0	SLC6A9	44239744	0.996000	0.38824	0.996000	0.52242	0.958000	0.62258	3.295000	0.51794	2.606000	0.88127	0.655000	0.94253	GTG	SLC6A9	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.607	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	SLC6A9	HGNC	protein_coding	OTTHUMT00000022825.2	C	NM_201649		44467157	-1	no_errors	ENST00000360584	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC7A1	6541	genome.wustl.edu	37	13	30090363	30090363	+	Silent	SNP	G	G	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr13:30090363G>T	ENST00000380752.5	-	12	2084	c.1698C>A	c.(1696-1698)ctC>ctA	p.L566L	SLC7A1_ENST00000473577.1_5'Flank	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	566					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCAGGATGGGGAGCACTGGCA	0.532																																																	0													83.0	62.0	69.0					13																	30090363		2203	4300	6503	SO:0001819	synonymous_variant	6541			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1698C>A	13.37:g.30090363G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JR50	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.L566	ENST00000380752.5	37	c.1698	CCDS9333.1	13																																																																																			SLC7A1	-	pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease		0.532	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A1	HGNC	protein_coding	OTTHUMT00000044337.2	G	NM_003045		30090363	-1	no_errors	ENST00000380752	ensembl	human	known	70_37	silent	SNP	0.028	T
SPRED2	200734	genome.wustl.edu	37	2	65571869	65571869	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:65571869C>T	ENST00000356388.4	-	2	377	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	SPRED2_ENST00000443619.2_Missense_Mutation_p.R60Q|SPRED2_ENST00000474228.1_5'UTR	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	63	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GTCTTTCTGTCGTTCACCATG	0.478																																																	0													106.0	94.0	98.0					2																	65571869		2203	4300	6503	SO:0001583	missense	200734			AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.188G>A	2.37:g.65571869C>T	ENSP00000348753:p.Arg63Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1	p.R63Q	ENST00000356388.4	37	c.188	CCDS33211.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.339101|5.339101	0.95783|0.95783	.|.	.|.	ENSG00000198369|ENSG00000198369	ENST00000427238|ENST00000356388;ENST00000443619;ENST00000452315;ENST00000440972	.|D;D;D;D	.|0.86694	.|-2.16;-2.16;-2.16;-2.16	4.98|4.98	4.98|4.98	0.66077|0.66077	.|EVH1 (2);Pleckstrin homology-type (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94798|0.94798	0.8320|0.8320	M|M	0.89715|0.89715	3.055|3.055	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.998;0.999	D|D	0.95767|0.95767	0.8805|0.8805	5|10	.|0.72032	.|D	.|0.01	-5.0542|-5.0542	18.2435|18.2435	0.89977|0.89977	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|60;63	.|E9PEP0;Q7Z698	.|.;SPRE2_HUMAN	N|Q	18|63;60;78;63	.|ENSP00000348753:R63Q;ENSP00000393697:R60Q;ENSP00000390595:R78Q;ENSP00000406481:R63Q	.|ENSP00000348753:R63Q	D|R	-|-	1|2	0|0	SPRED2|SPRED2	65425373|65425373	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.800000|7.800000	0.85949|0.85949	2.281000|2.281000	0.76405|0.76405	0.305000|0.305000	0.20034|0.20034	GAC|CGA	SPRED2	-	pfam_EVH1,smart_EVH1,pfscan_EVH1		0.478	SPRED2-001	KNOWN	basic|CCDS	protein_coding	SPRED2	HGNC	protein_coding	OTTHUMT00000327632.1	C			65571869	-1	no_errors	ENST00000356388	ensembl	human	known	70_37	missense	SNP	1.000	T
SPTBN4	57731	genome.wustl.edu	37	19	41019436	41019436	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr19:41019436G>A	ENST00000352632.3	+	14	2826	c.2740G>A	c.(2740-2742)Gac>Aac	p.D914N	SPTBN4_ENST00000598249.1_Missense_Mutation_p.D914N|SPTBN4_ENST00000344104.3_Missense_Mutation_p.D914N|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D914N|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D914N			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	914					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGATTCACTCGACGACGTCGA	0.617																																																	0													27.0	17.0	20.0					19																	41019436		2201	4298	6499	SO:0001583	missense	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.2740G>A	19.37:g.41019436G>A	ENSP00000263373:p.Asp914Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.D914N	ENST00000352632.3	37	c.2740	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718962	0.68844	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.51574	0.7;0.7;0.7	3.34	3.34	0.38264	.	0.493761	0.17970	U	0.155896	T	0.45677	0.1354	L	0.29908	0.895	0.80722	D	1	D;P	0.58620	0.983;0.942	P;B	0.50570	0.644;0.384	T	0.53158	-0.8478	10	0.87932	D	0	.	13.9331	0.64007	0.0:0.0:1.0:0.0	.	914;914	Q9H254;Q71S06	SPTN4_HUMAN;.	N	914	ENSP00000263373:D914N;ENSP00000340345:D914N;ENSP00000340741:D914N	ENSP00000340345:D914N	D	+	1	0	SPTBN4	45711276	1.000000	0.71417	0.926000	0.36857	0.378000	0.30076	9.363000	0.97131	1.887000	0.54652	0.313000	0.20887	GAC	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.617	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	G			41019436	+1	no_errors	ENST00000352632	ensembl	human	known	70_37	missense	SNP	1.000	A
SPTBN5	51332	genome.wustl.edu	37	15	42149153	42149153	+	Silent	SNP	G	G	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr15:42149153G>T	ENST00000320955.6	-	52	8933	c.8706C>A	c.(8704-8706)gcC>gcA	p.A2902A		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2902					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TTTCCTCGTCGGCGTCCCTGA	0.677																																																	0													13.0	16.0	15.0					15																	42149153		1938	4141	6079	SO:0001819	synonymous_variant	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.8706C>A	15.37:g.42149153G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.A2902	ENST00000320955.6	37	c.8706		15																																																																																			SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.677	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	G	NM_016642		42149153	-1	no_errors	ENST00000320955	ensembl	human	known	70_37	silent	SNP	0.000	T
SSPO	23145	genome.wustl.edu	37	7	149513092	149513092	+	RNA	SNP	G	G	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr7:149513092G>T	ENST00000378016.2	+	0	10995							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGGCGGGGAGCAGCTGCGCT	0.692																																																	0													18.0	24.0	22.0					7																	149513092		2046	4155	6201			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149513092G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.692	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		G			149513092	+1	no_errors	ENST00000378016	ensembl	human	known	70_37	rna	SNP	1.000	T
SULT1C2P1	151234	genome.wustl.edu	37	2	108938842	108938842	+	RNA	SNP	T	T	C			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:108938842T>C	ENST00000427208.1	+	0	149					NR_037191.1				sulfotransferase family, cytosolic, 1C, member 2 pseudogene 1																		AAAGAAAATGTGCGATTTCTG	0.448																																																	0																																												151234			AK056906		2q12.3	2013-01-16			ENSG00000237223	ENSG00000237223			33545	pseudogene	pseudogene						14676822	Standard	NR_037191		Approved	SULT1C1P	uc021vlu.2		OTTHUMG00000153216		2.37:g.108938842T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000427208.1	37	NULL		2																																																																																			SULT1C2P1	-	-		0.448	SULT1C2P1-001	KNOWN	basic	processed_transcript	SULT1C2P1	HGNC	pseudogene	OTTHUMT00000330149.2	T	NR_037191		108938842	+1	no_errors	ENST00000427208	ensembl	human	known	70_37	rna	SNP	0.003	C
TACC1	6867	genome.wustl.edu	37	8	38677586	38677586	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr8:38677586C>G	ENST00000317827.4	+	3	1203	c.824C>G	c.(823-825)aCa>aGa	p.T275R	TACC1_ENST00000443286.2_Missense_Mutation_p.T291R|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000379931.3_Missense_Mutation_p.T275R|TACC1_ENST00000520615.1_Missense_Mutation_p.T80R|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000518415.1_Missense_Mutation_p.T230R|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520340.1_Missense_Mutation_p.T239R|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000520973.1_Missense_Mutation_p.T80R|TACC1_ENST00000519416.1_Missense_Mutation_p.T80R	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	275	Interaction with YEATS4.|SPAZ 1.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GATGAGAACACAAGTCCTTTG	0.532																																																	0													39.0	40.0	40.0					8																	38677586		2203	4300	6503	SO:0001583	missense	6867			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.824C>G	8.37:g.38677586C>G	ENSP00000321703:p.Thr275Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	pfam_TACC	p.T275R	ENST00000317827.4	37	c.824	CCDS6109.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.530|5.530	0.282740|0.282740	0.10458|0.10458	.|.	.|.	ENSG00000147526|ENSG00000147526	ENST00000521866|ENST00000519416;ENST00000520615;ENST00000443388;ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931;ENST00000520973;ENST00000521935	.|T;T;T;T;T;T;T;T;T	.|0.33216	.|2.91;2.91;3.05;3.06;2.88;3.07;3.07;2.89;1.42	5.27|5.27	3.45|3.45	0.39498|0.39498	.|.	.|0.836066	.|0.10974	.|N	.|0.613532	T|T	0.29817|0.29817	0.0745|0.0745	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	.|P;B;B;B;P;B;B;P	.|0.49783	.|0.928;0.309;0.242;0.003;0.496;0.363;0.201;0.496	.|P;B;B;B;B;B;B;B	.|0.48063	.|0.565;0.064;0.087;0.002;0.261;0.133;0.1;0.193	T|T	0.12941|0.12941	-1.0528|-1.0528	5|10	.|0.13108	.|T	.|0.6	1.4623|1.4623	2.3405|2.3405	0.04259|0.04259	0.1581:0.5222:0.1529:0.1669|0.1581:0.5222:0.1529:0.1669	.|.	.|80;80;80;291;275;275;80;230	.|B7Z3G3;E7EVI4;B4DH49;B4E302;O75410-2;O75410;E7ET87;O75410-7	.|.;.;.;.;.;TACC1_HUMAN;.;.	E|R	50|80;80;80;291;230;247;275;275;80;80	.|ENSP00000428687:T80R;ENSP00000428450:T80R;ENSP00000393647:T291R;ENSP00000428706:T230R;ENSP00000430355:T247R;ENSP00000321703:T275R;ENSP00000369263:T275R;ENSP00000430959:T80R;ENSP00000428175:T80R	.|ENSP00000321703:T275R	Q|T	+|+	1|2	0|0	TACC1|TACC1	38796743|38796743	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.027000|0.027000	0.11550|0.11550	0.504000|0.504000	0.22626|0.22626	0.576000|0.576000	0.29452|0.29452	-0.302000|-0.302000	0.09304|0.09304	CAA|ACA	TACC1	-	NULL		0.532	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TACC1	HGNC	protein_coding	OTTHUMT00000376768.1	C	NM_006283		38677586	+1	no_errors	ENST00000379931	ensembl	human	known	70_37	missense	SNP	0.000	G
TESK2	10420	genome.wustl.edu	37	1	45809610	45809610	+	3'UTR	DEL	A	A	-			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:45809610delA	ENST00000372086.3	-	0	3018				TESK2_ENST00000341771.6_3'UTR|TOE1_ENST00000372090.5_3'UTR|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_3'UTR|TOE1_ENST00000495703.1_3'UTR	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2						actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					AAAGTTTTACAAAAAAAAAAA	0.363																																																	0																																										SO:0001624	3_prime_UTR_variant	10420			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.*902T>-	1.37:g.45809610delA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T422|Q5T423|Q8N520|Q9Y3Q6	RNA	DEL	-	NULL	ENST00000372086.3	37	NULL	CCDS41323.1	1																																																																																			TESK2	-	-		0.363	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK2	HGNC	protein_coding	OTTHUMT00000020523.1	A	NM_007170		45809610	-1	no_errors	ENST00000486676	ensembl	human	known	70_37	rna	DEL	0.794	-
TEX15	56154	genome.wustl.edu	37	8	30705231	30705231	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr8:30705231C>G	ENST00000256246.2	-	1	1377	c.1303G>C	c.(1303-1305)Gag>Cag	p.E435Q	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	435					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGAATGTTCTCTAATGACACT	0.343																																																	0													147.0	147.0	147.0					8																	30705231		2203	4300	6503	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1303G>C	8.37:g.30705231C>G	ENSP00000256246:p.Glu435Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E435Q	ENST00000256246.2	37	c.1303	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131696	0.37630	.	.	ENSG00000133863	ENST00000256246	T	0.10288	2.89	5.61	1.69	0.24217	.	0.664633	0.13939	N	0.352379	T	0.07818	0.0196	L	0.29908	0.895	0.09310	N	1	B	0.21821	0.061	B	0.21917	0.037	T	0.31613	-0.9937	10	0.87932	D	0	.	5.0779	0.14642	0.1479:0.3706:0.4036:0.0779	.	435	Q9BXT5	TEX15_HUMAN	Q	435	ENSP00000256246:E435Q	ENSP00000256246:E435Q	E	-	1	0	TEX15	30824773	0.008000	0.16893	0.014000	0.15608	0.005000	0.04900	0.967000	0.29344	0.378000	0.24764	-0.796000	0.03273	GAG	TEX15	-	NULL		0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30705231	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.000	G
TKT	7086	genome.wustl.edu	37	3	53269050	53269050	+	Missense_Mutation	SNP	G	G	T	rs200778000		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:53269050G>T	ENST00000462138.1	-	5	666	c.578C>A	c.(577-579)gCc>gAc	p.A193D	TKT_ENST00000461139.1_5'Flank|TKT_ENST00000423516.1_Missense_Mutation_p.A201D|TKT_ENST00000296289.6_Missense_Mutation_p.A146D|TKT_ENST00000423525.2_Missense_Mutation_p.A193D			P29401	TKT_HUMAN	transketolase	193					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		CTGCAGTGGGGCCGGGTCACT	0.597																																					Colon(133;1506 2347 35238 42177)												0													87.0	90.0	89.0					3																	53269050		2203	4300	6503	SO:0001583	missense	7086				CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.578C>A	3.37:g.53269050G>T	ENSP00000417773:p.Ala193Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.A193D	ENST00000462138.1	37	c.578	CCDS2871.1	3	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579453	0.65878	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.54	4.63	0.57726	Transketolase, N-terminal (1);	0.195433	0.53938	D	0.000054	T	0.51941	0.1704	M	0.76433	2.335	0.54753	D	0.999982	D;D;P	0.56968	0.978;0.974;0.936	D;D;D	0.78314	0.98;0.991;0.981	T	0.56025	-0.8047	10	0.87932	D	0	13.769	16.4639	0.84072	0.0:0.1306:0.8694:0.0	.	201;110;193	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	D	193;193;201;146;27	ENSP00000417773:A193D;ENSP00000405455:A193D;ENSP00000391481:A201D;ENSP00000296289:A146D	ENSP00000296289:A146D	A	-	2	0	TKT	53244090	0.999000	0.42202	0.598000	0.28837	0.099000	0.18886	8.003000	0.88520	2.606000	0.88127	0.655000	0.94253	GCC	TKT	-	pfam_Transketolase_N,pfam_DH_E1		0.597	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKT	HGNC	protein_coding	OTTHUMT00000350356.1	G			53269050	-1	no_errors	ENST00000423525	ensembl	human	known	70_37	missense	SNP	0.925	T
TMC7	79905	genome.wustl.edu	37	16	19070741	19070741	+	Silent	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr16:19070741C>T	ENST00000304381.5	+	15	2161	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	TMC7_ENST00000569532.1_Silent_p.L677L|TMC7_ENST00000421369.3_Silent_p.L567L	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	677					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GTTGCAGCCTCATCATGTTTT	0.468																																																	0													198.0	174.0	182.0					16																	19070741		2197	4300	6497	SO:0001819	synonymous_variant	79905			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.2031C>T	16.37:g.19070741C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	pfam_TMC	p.L677	ENST00000304381.5	37	c.2031	CCDS10573.1	16																																																																																			TMC7	-	NULL		0.468	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	HGNC	protein_coding	OTTHUMT00000254276.3	C	NM_024847		19070741	+1	no_errors	ENST00000304381	ensembl	human	known	70_37	silent	SNP	0.031	T
TMEM254	80195	genome.wustl.edu	37	10	81841421	81841422	+	Intron	INS	-	-	AA	rs113172526	byFrequency	TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr10:81841421_81841422insAA	ENST00000372281.3	+	2	117				TMEM254_ENST00000372274.1_Intron|TMEM254_ENST00000372275.1_Intron|TMEM254-AS1_ENST00000448729.2_RNA|TMEM254_ENST00000467529.1_Intron|TMEM254_ENST00000372277.3_Intron|TMEM254-AS1_ENST00000432070.2_RNA|TMEM254-AS1_ENST00000412298.1_RNA	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2	Q8TBM7	TM254_HUMAN	transmembrane protein 254							integral component of membrane (GO:0016021)											gagaccctgtcaaaaaaaaaag	0.48																																																	0																																										SO:0001627	intron_variant	80195			BC022252	CCDS7363.1, CCDS58086.1, CCDS58087.1, CCDS73157.1	10q23.1	2012-11-06	2012-11-06	2012-11-06	ENSG00000133678	ENSG00000133678			25804	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 57"""	C10orf57		14702039	Standard	NM_025125		Approved	FLJ13263, bA369J21.6	uc010qlw.3	Q8TBM7	OTTHUMG00000018602	ENST00000372281.3:c.88-175->AA	10.37:g.81841430_81841431dupAA		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWC8|Q53HP4|Q5JTC0|Q5JTC1|Q6IA45|Q9H8S6	RNA	INS	-	NULL	ENST00000372281.3	37	NULL	CCDS7363.1	10																																																																																			TMEM254	-	-		0.480	TMEM254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM254	HGNC	protein_coding	OTTHUMT00000049030.1	-	NM_025125		81841422	+1	no_errors	ENST00000463029	ensembl	human	known	70_37	rna	INS	0.039:0.038	AA
TMEM55B	90809	genome.wustl.edu	37	14	20927568	20927568	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr14:20927568C>A	ENST00000250489.4	-	5	864	c.578G>T	c.(577-579)cGt>cTt	p.R193L	TMEM55B_ENST00000398020.4_Missense_Mutation_p.R200L|TMEM55B_ENST00000554028.1_Missense_Mutation_p.R26L			Q86T03	TM55B_HUMAN	transmembrane protein 55B	193						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		GTGAGGACAACGTGCCAAAGT	0.433																																																	0													259.0	250.0	253.0					14																	20927568		2203	4300	6503	SO:0001583	missense	90809			BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782			19299	protein-coding gene	gene with protein product		609865	"""chromosome 14 open reading frame 9"""	C14orf9			Standard	NM_144568		Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.578G>T	14.37:g.20927568C>A	ENSP00000250489:p.Arg193Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	Missense_Mutation	SNP	pfam_Transmembrane_protein_55A/B	p.R200L	ENST00000250489.4	37	c.599	CCDS9551.1	14	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594240	0.66219	.	.	ENSG00000165782	ENST00000250489;ENST00000398020;ENST00000554028	.	.	.	5.16	5.16	0.70880	.	0.109104	0.64402	D	0.000005	T	0.55000	0.1893	M	0.66378	2.025	0.80722	D	1	P;P	0.43909	0.821;0.785	B;B	0.39531	0.302;0.2	T	0.62229	-0.6898	9	0.62326	D	0.03	-7.6952	11.6815	0.51461	0.0:0.9143:0.0:0.0857	.	193;200	Q86T03;Q86T03-2	TM55B_HUMAN;.	L	193;200;26	.	ENSP00000250489:R193L	R	-	2	0	TMEM55B	19997408	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	3.503000	0.53340	2.407000	0.81776	0.650000	0.86243	CGT	TMEM55B	-	pfam_Transmembrane_protein_55A/B		0.433	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMEM55B	HGNC	protein_coding	OTTHUMT00000073643.3	C	NM_144568		20927568	-1	no_errors	ENST00000398020	ensembl	human	known	70_37	missense	SNP	1.000	A
TMF1	7110	genome.wustl.edu	37	3	69101209	69101209	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:69101209G>C	ENST00000398559.2	-	1	245	c.29C>G	c.(28-30)tCc>tGc	p.S10C	CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.S10C			P82094	TMF1_HUMAN	TATA element modulatory factor 1	10					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AGCGAAGCTGGAGAGCTGGGA	0.642																																																	0													63.0	66.0	65.0					3																	69101209		1932	4153	6085	SO:0001583	missense	7110				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.29C>G	3.37:g.69101209G>C	ENSP00000381567:p.Ser10Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	pfam_TMF_TATA-bd,pfam_TMF_DNA-bd	p.S10C	ENST00000398559.2	37	c.29	CCDS43105.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.315967	0.95655	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248;ENST00000438636	T;T	0.26067	1.77;1.76	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.54523	-0.8281	10	0.66056	D	0.02	-5.7605	19.3409	0.94340	0.0:0.0:1.0:0.0	.	10;10	P82094-2;P82094	.;TMF1_HUMAN	C	10	ENSP00000381567:S10C;ENSP00000438706:S10C	ENSP00000348582:S10C	S	-	2	0	TMF1	69183899	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.203000	0.95033	2.633000	0.89246	0.591000	0.81541	TCC	TMF1	-	NULL		0.642	TMF1-001	KNOWN	basic|CCDS	protein_coding	TMF1	HGNC	protein_coding	OTTHUMT00000352106.1	G	NM_007114		69101209	-1	no_errors	ENST00000543976	ensembl	human	known	70_37	missense	SNP	1.000	C
TRIM61	391712	genome.wustl.edu	37	4	165890861	165890861	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr4:165890861C>G	ENST00000329314.5	-	3	906	c.294G>C	c.(292-294)aaG>aaC	p.K98N		NM_001012414.2	NP_001012414.1	Q5EBN2	TRI61_HUMAN	tripartite motif containing 61	98						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		GATTATGCTTCTTACACACAT	0.433																																																	0													6.0	7.0	7.0					4																	165890861		1681	3301	4982	SO:0001583	missense	391712				CCDS34093.1	4q32.3	2013-01-09	2011-01-25			ENSG00000183439		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24339	protein-coding gene	gene with protein product			"""ring finger protein 35"", ""tripartite motif-containing 61"""	RNF35			Standard	NM_001012414		Approved		uc003iqw.3	Q5EBN2		ENST00000329314.5:c.294G>C	4.37:g.165890861C>G	ENSP00000332288:p.Lys98Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING	p.K98N	ENST00000329314.5	37	c.294	CCDS34093.1	4	.	.	.	.	.	.	.	.	.	.	T	14.06	2.422795	0.43020	.	.	ENSG00000183439	ENST00000329314	T	0.41400	1.0	3.22	-2.38	0.06622	Zinc finger, B-box (2);	.	.	.	.	T	0.44767	0.1309	L	0.61036	1.89	0.20638	N	0.999876	B	0.34255	0.445	P	0.44422	0.449	T	0.49744	-0.8907	9	0.39692	T	0.17	.	9.0083	0.36127	0.0:0.3578:0.0:0.6422	.	98	Q5EBN2	TRI61_HUMAN	N	98	ENSP00000332288:K98N	ENSP00000332288:K98N	K	-	3	2	TRIM61	166110311	0.000000	0.05858	0.010000	0.14722	0.329000	0.28539	-1.100000	0.03339	-0.762000	0.04664	0.580000	0.79431	AAG	TRIM61	-	pfam_Znf_B-box,pfscan_Znf_B-box		0.433	TRIM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM61	HGNC	protein_coding	OTTHUMT00000364331.1	C	XM_373038		165890861	-1	no_errors	ENST00000329314	ensembl	human	known	70_37	missense	SNP	0.833	G
TRPC1	7220	genome.wustl.edu	37	3	142522838	142522838	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:142522838G>T	ENST00000476941.1	+	11	2263	c.1777G>T	c.(1777-1779)Gct>Tct	p.A593S	TRPC1_ENST00000273482.6_Missense_Mutation_p.A559S|RNU7-47P_ENST00000515978.1_RNA	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	593					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CACCTGCTTTGCTTTGTTCTG	0.348																																																	0													98.0	90.0	93.0					3																	142522838		2203	4300	6503	SO:0001583	missense	7220			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1777G>T	3.37:g.142522838G>T	ENSP00000419313:p.Ala593Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.A593S	ENST00000476941.1	37	c.1777	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347560	0.41599	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.98474	-4.95;-4.95	5.33	5.33	0.75918	Ion transport (1);	0.050574	0.85682	D	0.000000	D	0.95743	0.8615	N	0.10664	0.02	0.80722	D	1	P;P;B	0.52463	0.889;0.953;0.34	P;P;B	0.54174	0.663;0.744;0.237	D	0.93256	0.6639	10	0.05525	T	0.97	-25.0447	19.3994	0.94621	0.0:0.0:1.0:0.0	.	559;593;559	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	S	593;559;112	ENSP00000419313:A593S;ENSP00000273482:A559S	ENSP00000273482:A559S	A	+	1	0	TRPC1	144005528	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.546000	0.98097	2.654000	0.90174	0.650000	0.86243	GCT	TRPC1	-	pfam_Ion_trans_dom,tigrfam_TRP_channel		0.348	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	G	NM_003304		142522838	+1	no_errors	ENST00000476941	ensembl	human	known	70_37	missense	SNP	1.000	T
TTC28	23331	genome.wustl.edu	37	22	28504220	28504220	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr22:28504220C>T	ENST00000397906.2	-	7	1754	c.1613G>A	c.(1612-1614)cGg>cAg	p.R538Q		NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	538					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						CAGCTCCTGCCGATGGTATTT	0.597																																																	0													62.0	63.0	63.0					22																	28504220		692	1591	2283	SO:0001583	missense	23331			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.1613G>A	22.37:g.28504220C>T	ENSP00000381003:p.Arg538Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R538Q	ENST00000397906.2	37	c.1613	CCDS46678.1	22	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284550	0.40394	.	.	ENSG00000100154	ENST00000397906	D	0.93811	-3.29	5.91	5.91	0.95273	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.198460	0.44285	N	0.000467	D	0.84759	0.5543	N	0.02916	-0.46	0.80722	D	1	P	0.50528	0.936	B	0.43536	0.423	D	0.84513	0.0623	10	0.11182	T	0.66	-26.9329	19.2867	0.94077	0.0:1.0:0.0:0.0	.	538	Q96AY4	TTC28_HUMAN	Q	538	ENSP00000381003:R538Q	ENSP00000381003:R538Q	R	-	2	0	TTC28	26834220	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.298000	0.78815	2.793000	0.96121	0.655000	0.94253	CGG	TTC28	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.597	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	TTC28	HGNC	protein_coding	OTTHUMT00000320930.2	C	XM_929318		28504220	-1	no_errors	ENST00000397906	ensembl	human	novel	70_37	missense	SNP	1.000	T
UNC93B1	81622	genome.wustl.edu	37	11	67759287	67759287	+	Silent	SNP	C	C	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr11:67759287C>A	ENST00000227471.2	-	12	1600	c.1521G>T	c.(1519-1521)gcG>gcT	p.A507A	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	508					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.A507A(1)									GGTAGGAGACCGCGGCCGCCA	0.741																																																	1	Substitution - coding silent(1)	prostate(1)											2.0	2.0	2.0					11																	67759287		721	1664	2385	SO:0001819	synonymous_variant	81622			AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1521G>T	11.37:g.67759287C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95764|Q569H6|Q710D4	Silent	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.A507	ENST00000227471.2	37	c.1521		11																																																																																			UNC93B1	-	NULL		0.741	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	HGNC	protein_coding		C	NM_030930		67759287	-1	no_errors	ENST00000227471	ensembl	human	known	70_37	silent	SNP	0.000	A
VPS52	6293	genome.wustl.edu	37	6	33232075	33232075	+	Intron	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr6:33232075G>A	ENST00000445902.2	-	14	1743				VPS52_ENST00000436044.2_Intron|VPS52_ENST00000478934.1_Intron|VPS52_ENST00000482399.1_Intron	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)						ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ACACAACTGTGACCTTGGCCA	0.557																																																	0																																										SO:0001627	intron_variant	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1524+75C>T	6.37:g.33232075G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	RNA	SNP	-	NULL	ENST00000445902.2	37	NULL	CCDS4770.2	6																																																																																			VPS52	-	-		0.557	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS52	HGNC	protein_coding	OTTHUMT00000076598.2	G	NM_022553		33232075	-1	no_errors	ENST00000493674	ensembl	human	putative	70_37	rna	SNP	0.000	A
UTRN	7402	genome.wustl.edu	37	6	145079201	145079201	+	Intron	SNP	C	C	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr6:145079201C>A	ENST00000367545.3	+	57	8495				UTRN_ENST00000480333.1_3'UTR|UTRN_ENST00000367526.4_Intron	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTTCTCTCCCCATAACTTTTA	0.254																																																	0																																										SO:0001627	intron_variant	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8495+76C>A	6.37:g.145079201C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SYY1|Q5SZ57|Q9UJ40	RNA	SNP	-	NULL	ENST00000367545.3	37	NULL	CCDS34547.1	6																																																																																			UTRN	-	-		0.254	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	C			145079201	+1	no_errors	ENST00000480333	ensembl	human	known	70_37	rna	SNP	0.000	A
VWA5A	4013	genome.wustl.edu	37	11	123993733	123993733	+	Missense_Mutation	SNP	C	C	T	rs139849781		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr11:123993733C>T	ENST00000456829.2	+	8	1078	c.827C>T	c.(826-828)tCa>tTa	p.S276L	VWA5A_ENST00000360334.4_Missense_Mutation_p.S276L|VWA5A_ENST00000392748.1_Missense_Mutation_p.S276L|VWA5A_ENST00000449321.1_Missense_Mutation_p.S276L|VWA5A_ENST00000392744.4_Missense_Mutation_p.S292L|VWA5A_ENST00000361352.5_Missense_Mutation_p.S276L	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	276										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GATCAACCATCAAATACCTGT	0.458																																																	0													66.0	67.0	66.0					11																	123993733		2201	4299	6500	SO:0001583	missense	4013			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.827C>T	11.37:g.123993733C>T	ENSP00000407726:p.Ser276Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.S276L	ENST00000456829.2	37	c.827	CCDS8444.1	11	.	.	.	.	.	.	.	.	.	.	C	7.420	0.636537	0.14386	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.24538	3.63;1.85;3.63;2.21;2.21;2.2	5.84	4.86	0.63082	.	0.608923	0.18371	N	0.143268	T	0.15739	0.0379	N	0.16368	0.405	0.09310	N	0.999999	B;B	0.11235	0.001;0.004	B;B	0.10450	0.002;0.005	T	0.09574	-1.0668	10	0.29301	T	0.29	0.1057	10.7645	0.46286	0.3072:0.6928:0.0:0.0	.	292;276	B4DHS6;O00534	.;VMA5A_HUMAN	L	276;276;276;276;276;292	ENSP00000407726:S276L;ENSP00000353485:S276L;ENSP00000376504:S276L;ENSP00000355070:S276L;ENSP00000404683:S276L;ENSP00000376501:S292L	ENSP00000353485:S276L	S	+	2	0	VWA5A	123498943	0.043000	0.20138	0.042000	0.18584	0.011000	0.07611	3.222000	0.51223	2.766000	0.95052	0.655000	0.94253	TCA	VWA5A	-	NULL		0.458	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5A	HGNC	protein_coding	OTTHUMT00000387273.1	C	NM_014622		123993733	+1	no_errors	ENST00000392748	ensembl	human	known	70_37	missense	SNP	0.026	T
WAC	51322	genome.wustl.edu	37	10	28899712	28899712	+	Frame_Shift_Del	DEL	C	C	-			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr10:28899712delC	ENST00000354911.4	+	9	1411	c.1250delC	c.(1249-1251)acgfs	p.T417fs	WAC_ENST00000375664.4_Frame_Shift_Del_p.T372fs|WAC_ENST00000375646.1_Frame_Shift_Del_p.T265fs|WAC_ENST00000347934.4_Frame_Shift_Del_p.T314fs|WAC_ENST00000428935.1_Frame_Shift_Del_p.T372fs	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	417					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TTCAACATAACGTCTCTGATT	0.363																																																	0													175.0	168.0	171.0					10																	28899712		2203	4300	6503	SO:0001589	frameshift_variant	51322			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1250delC	10.37:g.28899712delC	ENSP00000346986:p.Thr417fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Frame_Shift_Del	DEL	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.T417fs	ENST00000354911.4	37	c.1250	CCDS7159.1	10																																																																																			WAC	-	NULL		0.363	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	HGNC	protein_coding	OTTHUMT00000047371.1	C	NM_100264		28899712	+1	no_errors	ENST00000354911	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
ZC3H18	124245	genome.wustl.edu	37	16	88666221	88666221	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr16:88666221G>A	ENST00000301011.5	+	6	1153	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R342Q	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	318						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCAACTATTCGAAAAGAACAG	0.413																																					Ovarian(121;375 2276 20373 38669)												0													124.0	145.0	138.0					16																	88666221		2198	4300	6498	SO:0001583	missense	124245			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.953G>A	16.37:g.88666221G>A	ENSP00000301011:p.Arg318Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96DG4|Q96MP7	Missense_Mutation	SNP	smart_Znf_CCCH	p.R318Q	ENST00000301011.5	37	c.953	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795242	0.90453	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.60424	0.28;0.19	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.74015	0.3661	M	0.63843	1.955	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.76683	-0.2869	10	0.72032	D	0.01	-13.5015	16.815	0.85732	0.0:0.0:1.0:0.0	.	342;342;318	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	Q	318;342;342;201	ENSP00000301011:R318Q;ENSP00000416951:R342Q	ENSP00000289509:R342Q	R	+	2	0	ZC3H18	87193722	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.201000	0.95017	2.390000	0.81377	0.561000	0.74099	CGA	ZC3H18	-	NULL		0.413	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1	G	NM_144604		88666221	+1	no_errors	ENST00000301011	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF248	57209	genome.wustl.edu	37	10	38121767	38121767	+	Silent	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr10:38121767C>T	ENST00000395867.3	-	6	1066	c.516G>A	c.(514-516)gaG>gaA	p.E172E	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron|AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000357328.4_Silent_p.E172E	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						GGAGCAATTTCTCACATACAT	0.318																																																	0													56.0	59.0	58.0					10																	38121767		2201	4297	6498	SO:0001819	synonymous_variant	57209			AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.516G>A	10.37:g.38121767C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDV8|Q9UMP3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E172	ENST00000395867.3	37	c.516	CCDS7194.1	10																																																																																			ZNF248	-	NULL		0.318	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF248	HGNC	protein_coding	OTTHUMT00000047609.1	C	NM_021045		38121767	-1	no_errors	ENST00000357328	ensembl	human	known	70_37	silent	SNP	0.993	T
ZNF384	171017	genome.wustl.edu	37	12	6787340	6787340	+	Silent	SNP	G	G	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr12:6787340G>T	ENST00000396801.3	-	6	846	c.639C>A	c.(637-639)ctC>ctA	p.L213L	ZNF384_ENST00000355772.4_Silent_p.L158L|ZNF384_ENST00000319770.3_Silent_p.L197L|ZNF384_ENST00000396799.2_Silent_p.L213L|ZNF384_ENST00000396795.1_Silent_p.L213L|ZNF384_ENST00000361959.3_Silent_p.L213L	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	213					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CCTCAGGGGAGAGGACATAAG	0.587			T	"""EWSR1, TAF15 """	ALL																																			Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0													159.0	151.0	154.0					12																	6787340		2203	4300	6503	SO:0001819	synonymous_variant	171017			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.639C>A	12.37:g.6787340G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O15407|Q7Z722|Q8N938	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L213	ENST00000396801.3	37	c.639	CCDS44817.1	12																																																																																			ZNF384	-	NULL		0.587	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF384	HGNC	protein_coding	OTTHUMT00000400712.1	G			6787340	-1	no_errors	ENST00000361959	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF599	148103	genome.wustl.edu	37	19	35250451	35250451	+	Missense_Mutation	SNP	C	C	T	rs200075847		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr19:35250451C>T	ENST00000329285.8	-	4	1628	c.1255G>A	c.(1255-1257)Gga>Aga	p.G419R		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGCTTCTCTCCGGTATGGGTC	0.468																																																	0								C	ARG/GLY	0,4406		0,0,2203	55.0	54.0	54.0		1255	2.5	1.0	19		54	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZNF599	NM_001007248.2	125	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	419/589	35250451	2,13004	2203	4300	6503	SO:0001583	missense	148103			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1255G>A	19.37:g.35250451C>T	ENSP00000333802:p.Gly419Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q569K0|Q5PRG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G419R	ENST00000329285.8	37	c.1255	CCDS32991.1	19	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622037	0.66787	0.0	2.33E-4	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.26223	1.75	2.53	2.53	0.30540	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42040	0.1185	L	0.59967	1.855	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.31308	-0.9948	9	0.62326	D	0.03	.	8.6882	0.34251	0.0:1.0:0.0:0.0	.	419	Q96NL3	ZN599_HUMAN	R	418;419;193	ENSP00000333802:G419R	ENSP00000333802:G419R	G	-	1	0	ZNF599	39942291	0.046000	0.20272	0.997000	0.53966	0.951000	0.60555	1.575000	0.36493	1.735000	0.51646	0.491000	0.48974	GGA	ZNF599	-	pfscan_Znf_C2H2		0.468	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF599	HGNC	protein_coding	OTTHUMT00000460648.2	C	XM_086046		35250451	-1	no_errors	ENST00000329285	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF546	339327	genome.wustl.edu	37	19	40520585	40520585	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr19:40520585G>C	ENST00000347077.4	+	7	1624	c.1408G>C	c.(1408-1410)Gaa>Caa	p.E470Q	ZNF546_ENST00000600094.1_Missense_Mutation_p.E444Q|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAAACCCTATGAATGTAAGGA	0.413																																																	0													73.0	75.0	74.0					19																	40520585		2203	4300	6503	SO:0001583	missense	339327			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1408G>C	19.37:g.40520585G>C	ENSP00000339823:p.Glu470Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K913	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E470Q	ENST00000347077.4	37	c.1408	CCDS12548.1	19	.	.	.	.	.	.	.	.	.	.	g	14.23	2.472800	0.43942	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.20200	2.09	2.9	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10809	0.0264	N	0.04705	-0.18	0.21020	N	0.99981	B	0.18166	0.026	B	0.18871	0.023	T	0.28073	-1.0055	9	0.56958	D	0.05	.	9.5796	0.39479	0.0:0.2294:0.7706:0.0	.	470	Q86UE3	ZN546_HUMAN	Q	470;107	ENSP00000339823:E470Q	ENSP00000339823:E470Q	E	+	1	0	ZNF546	45212425	0.000000	0.05858	0.992000	0.48379	0.994000	0.84299	-0.777000	0.04669	0.732000	0.32470	0.655000	0.94253	GAA	ZNF546	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF546	HGNC	protein_coding	OTTHUMT00000462495.2	G	NM_178544		40520585	+1	no_errors	ENST00000347077	ensembl	human	known	70_37	missense	SNP	0.945	C
ZXDB	158586	genome.wustl.edu	37	X	57620522	57620522	+	Missense_Mutation	SNP	T	T	C			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:57620522T>C	ENST00000374888.1	+	1	2254	c.2041T>C	c.(2041-2043)Ttt>Ctt	p.F681L		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	681	Required for transcriptional activation. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CTCTCTCTTTTTTGGAACGGC	0.517																																																	0													5.0	5.0	5.0					X																	57620522		1844	3619	5463	SO:0001583	missense	158586			L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.2041T>C	X.37:g.57620522T>C	ENSP00000364023:p.Phe681Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K151|Q9UBB3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F681L	ENST00000374888.1	37	c.2041	CCDS35313.1	X	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.742678	0.00675	.	.	ENSG00000198455	ENST00000374888	T	0.08807	3.05	3.77	2.63	0.31362	.	0.276731	0.30464	N	0.009562	T	0.03136	0.0092	N	0.12569	0.235	0.27939	N	0.937579	B	0.21520	0.057	B	0.14023	0.01	T	0.41752	-0.9491	10	0.07325	T	0.83	.	3.9886	0.09527	0.0:0.269:0.0:0.731	.	681	P98169	ZXDB_HUMAN	L	681	ENSP00000364023:F681L	ENSP00000364023:F681L	F	+	1	0	ZXDB	57637247	1.000000	0.71417	0.974000	0.42286	0.366000	0.29705	1.598000	0.36740	1.520000	0.48965	0.393000	0.25936	TTT	ZXDB	-	NULL		0.517	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZXDB	HGNC	protein_coding	OTTHUMT00000056922.1	T	NM_007157		57620522	+1	no_errors	ENST00000374888	ensembl	human	known	70_37	missense	SNP	0.954	C
ZXDA	7789	genome.wustl.edu	37	X	57936104	57936104	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:57936104C>T	ENST00000358697.4	-	1	963	c.751G>A	c.(751-753)Gcc>Acc	p.A251T		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	251					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GGGCCCAGGGCGGCGGCCAGG	0.736																																																	0													5.0	6.0	6.0					X																	57936104		2084	4039	6123	SO:0001583	missense	7789			L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.751G>A	X.37:g.57936104C>T	ENSP00000351530:p.Ala251Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UJP7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A251T	ENST00000358697.4	37	c.751	CCDS14376.1	X	.	.	.	.	.	.	.	.	.	.	.	9.174	1.021765	0.19433	.	.	ENSG00000198205	ENST00000358697	T	0.10668	2.85	3.42	-0.811	0.10857	.	0.879511	0.09585	N	0.782316	T	0.05273	0.0140	N	0.19112	0.55	0.09310	N	1	B	0.17268	0.021	B	0.09377	0.004	T	0.44205	-0.9343	9	.	.	.	.	2.1197	0.03723	0.485:0.2462:0.1582:0.1106	.	251	P98168	ZXDA_HUMAN	T	251	ENSP00000351530:A251T	.	A	-	1	0	ZXDA	57952829	0.153000	0.22777	0.000000	0.03702	0.561000	0.35649	2.171000	0.42453	-0.326000	0.08564	0.415000	0.27848	GCC	ZXDA	-	NULL		0.736	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZXDA	HGNC	protein_coding	OTTHUMT00000056925.1	C	NM_007156		57936104	-1	no_errors	ENST00000358697	ensembl	human	known	70_37	missense	SNP	0.000	T
