#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_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_Chromosome_hg18	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_End_position_hg18	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_ORegAnno_bin	i_Start_position_hg18	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_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_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
CBWD1	55871	genome.wustl.edu	37	9	121503	121503	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr9:121503C>A	ENST00000356521.4	-	15	1240	c.1152G>T	c.(1150-1152)tgG>tgT	p.W384C	CBWD1_ENST00000475411.1_5'Flank|CBWD1_ENST00000314367.10_Missense_Mutation_p.W348C|CBWD1_ENST00000382447.4_Missense_Mutation_p.W365C|CBWD1_ENST00000377400.4_Missense_Mutation_p.W336C	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	384							ATP binding (GO:0005524)			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AACGTGTTGTCCACTGCTTTT	0.328																																																0			9											349.0	354.0	352.0					9																	121503		2203	4299	6502	111503	SO:0001583	missense	55871			AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.1152G>T	9.37:g.121503C>A	ENSP00000348915:p.Trp384Cys		111503	A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_cobW,HMMPfam_CobW_C,superfamily_Hypothetical protein YjiA C-terminal domain	p.W384C	ENST00000356521.4	37	c.1152	CCDS6438.1	9	.	.	.	.	.	.	.	.	.	.	.	10.03	1.239338	0.22711	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000314367	T;T;T;T	0.09723	3.12;3.13;3.15;2.95	3.08	1.08	0.20341	.	1.317630	0.04842	N	0.440601	T	0.12008	0.0292	N	0.22421	0.69	0.09310	N	0.999992	P;P;P	0.50819	0.939;0.896;0.833	P;P;B	0.50136	0.51;0.632;0.312	T	0.21211	-1.0252	10	0.72032	D	0.01	-5.7443	4.6023	0.12359	0.0:0.6413:0.2251:0.1336	.	365;348;384	Q9BRT8-3;Q9BRT8-2;Q9BRT8	.;.;CBWD1_HUMAN	C	384;336;365;348	ENSP00000348915:W384C;ENSP00000366617:W336C;ENSP00000371885:W365C;ENSP00000323433:W348C	ENSP00000323433:W348C	W	-	3	0	CBWD1	111503	0.933000	0.31639	0.003000	0.11579	0.024000	0.10985	1.753000	0.38359	0.138000	0.18790	-0.510000	0.04470	TGG	-	NULL		0.328	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	CBWD1	protein_coding	OTTHUMT00000051463.1	C	NM_018491		111503	-1	no_errors	NM_018491	genbank	human	validated	54_36p	missense	SNP	0.042	A
BRD9	65980	genome.wustl.edu	37	5	884086	884086	+	Silent	SNP	C	C	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr5:884086C>A	ENST00000467963.1	-	8	1099	c.933G>T	c.(931-933)cgG>cgT	p.R311R	BRD9_ENST00000483173.1_Silent_p.R258R|BRD9_ENST00000388890.4_Silent_p.R195R|BRD9_ENST00000435709.2_Silent_p.R195R|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000323510.4_Silent_p.R215R	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	311					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TGATCCTGTCCCGAGCTTCGT	0.627																																																0			5											128.0	99.0	109.0					5																	884086		2203	4300	6503	937086	SO:0001819	synonymous_variant	65980			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.933G>T	5.37:g.884086C>A			937086	A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain	p.R215	ENST00000467963.1	37	c.645	CCDS34127.2	5																																																																																			-	NULL		0.627	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD9	protein_coding	OTTHUMT00000354113.1	C	NM_023924		937086	-1	no_errors	NM_023924	genbank	human	provisional	54_36p	silent	SNP	1.000	A
ARHGEF10	9639	genome.wustl.edu	37	8	1812556	1812556	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr8:1812556G>C	ENST00000398564.1	+	5	574	c.574G>C	c.(574-576)Gaa>Caa	p.E192Q	ARHGEF10_ENST00000398560.1_Missense_Mutation_p.E192Q|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.E168Q|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.E167Q|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.E192Q|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.E192Q			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	192					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AGAAGTCACAGAAGATCGCCA	0.473																																																0			8											146.0	126.0	133.0					8																	1812556		2203	4300	6503	1799963	SO:0001583	missense	9639			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.574G>C	8.37:g.1812556G>C	ENSP00000381571:p.Glu192Gln		1799963	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,superfamily_WD40_like,PatternScan_THIOL_PROTEASE_HIS	p.E167Q	ENST00000398564.1	37	c.499		8	.	.	.	.	.	.	.	.	.	.	G	7.699	0.692625	0.15039	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112	T;T;T;T;T;T	0.66638	0.28;0.19;0.27;-0.22;0.27;0.26	3.9	3.01	0.34805	.	2.301840	0.01838	N	0.035127	T	0.64494	0.2603	L	0.50333	1.59	0.09310	N	1	B;B;B;B;B	0.21071	0.01;0.01;0.011;0.01;0.051	B;B;B;B;B	0.15052	0.008;0.012;0.005;0.008;0.012	T	0.46400	-0.9194	10	0.27082	T	0.32	-8.5098	11.8003	0.52122	0.0:0.1779:0.8221:0.0	.	192;192;192;168;167	O15013-4;O15013-6;E9PB39;O15013-7;O15013-5	.;.;.;.;.	Q	167;168;192;192;192;192	ENSP00000340297:E167Q;ENSP00000427909:E168Q;ENSP00000431012:E192Q;ENSP00000381568:E192Q;ENSP00000381571:E192Q;ENSP00000262112:E192Q	ENSP00000262112:E192Q	E	+	1	0	ARHGEF10	1799963	0.962000	0.33011	0.002000	0.10522	0.010000	0.07245	3.041000	0.49807	0.950000	0.37743	0.655000	0.94253	GAA	-	NULL		0.473	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	protein_coding		G			1799963	+1	no_errors	NM_014629	genbank	human	reviewed	54_36p	missense	SNP	0.233	C
PDYN	5173	genome.wustl.edu	37	20	1961118	1961118	+	Missense_Mutation	SNP	G	G	A	rs575606358		TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr20:1961118G>A	ENST00000217305.2	-	4	841	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	PDYN_ENST00000540134.1_Missense_Mutation_p.R206C|PDYN_ENST00000539905.1_Missense_Mutation_p.R206C|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	206					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCCCATAGCGTTTGTACAGG	0.592																																																0			20											104.0	114.0	111.0					20																	1961118		2203	4300	6503	1909118	SO:0001583	missense	5173				CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.616C>T	20.37:g.1961118G>A	ENSP00000217305:p.Arg206Cys		1909118	A8K0Q3	Missense_Mutation	SNP	HMMPfam_Opiods_neuropep,PatternScan_OPIOIDS_PRECURSOR	p.R206C	ENST00000217305.2	37	c.616	CCDS13023.1	20	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161588	0.78226	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.90620	-2.7;-2.7;-2.7	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.96043	0.8711	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96660	0.9488	10	0.87932	D	0	-19.7087	15.8394	0.78835	0.0:0.0:1.0:0.0	.	206	P01213	PDYN_HUMAN	C	206	ENSP00000440185:R206C;ENSP00000442259:R206C;ENSP00000217305:R206C	ENSP00000217305:R206C	R	-	1	0	PDYN	1909118	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.677000	0.61634	2.603000	0.88011	0.313000	0.20887	CGC	-	NULL		0.592	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDYN	protein_coding	OTTHUMT00000077569.2	G			1909118	-1	no_errors	NM_024411	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
FBXO39	162517	genome.wustl.edu	37	17	6683944	6683944	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr17:6683944A>G	ENST00000321535.4	+	2	887	c.757A>G	c.(757-759)Acc>Gcc	p.T253A		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	253										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						CACCCTCCGGACCATCAACAT	0.537																																																0			17											110.0	94.0	100.0					17																	6683944		2203	4300	6503	6624668	SO:0001583	missense	162517			BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.757A>G	17.37:g.6683944A>G	ENSP00000321386:p.Thr253Ala		6624668		Missense_Mutation	SNP	HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF52047	p.T253A	ENST00000321535.4	37	c.757	CCDS11082.1	17	.	.	.	.	.	.	.	.	.	.	A	12.72	2.022715	0.35701	.	.	ENSG00000177294	ENST00000321535	T	0.53857	0.6	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000004	T	0.37571	0.1008	L	0.29908	0.895	0.37098	D	0.899747	B	0.26363	0.147	B	0.22152	0.038	T	0.36261	-0.9755	10	0.17832	T	0.49	-37.7914	11.7215	0.51685	1.0:0.0:0.0:0.0	.	253	Q8N4B4	FBX39_HUMAN	A	253	ENSP00000321386:T253A	ENSP00000321386:T253A	T	+	1	0	FBXO39	6624668	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	3.481000	0.53179	2.188000	0.69820	0.528000	0.53228	ACC	-	superfamily_SSF52047		0.537	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO39	protein_coding	OTTHUMT00000219866.2	A	NM_153230		6624668	+1	no_errors	NM_153230	genbank	human	validated	54_36p	missense	SNP	0.999	G
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	7519131	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7519131	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
PIEZO2	63895	genome.wustl.edu	37	18	10672706	10672706	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr18:10672706C>G	ENST00000503781.3	-	51	7986	c.7987G>C	c.(7987-7989)Ggg>Cgg	p.G2663R	PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000285141.4_Missense_Mutation_p.G455R|PIEZO2_ENST00000302079.6_Missense_Mutation_p.G2600R|PIEZO2_ENST00000538948.1_Missense_Mutation_p.G620R|PIEZO2_ENST00000580640.1_Missense_Mutation_p.G2688R	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2663					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.G2663R(1)|p.G455R(1)									GCCAGGAACCCCAGACTTGGG	0.463																																																2	Substitution - Missense(2)	lung(2)	18											112.0	107.0	108.0					18																	10672706		2203	4300	6503	10662706	SO:0001583	missense	63895			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.7987G>C	18.37:g.10672706C>G	ENSP00000421377:p.Gly2663Arg		10662706	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	NULL	p.G455R	ENST00000503781.3	37	c.1363		18	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556150	0.86231	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T	0.72282	-0.64;-0.64	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.84606	0.5509	M	0.73598	2.24	0.58432	D	0.999991	D	0.89917	1.0	D	0.83275	0.996	T	0.82024	-0.0662	10	0.38643	T	0.18	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	557	D6RFZ0	.	R	557;2663;620;455	ENSP00000443129:G620R;ENSP00000285141:G455R	ENSP00000285141:G455R	G	-	1	0	FAM38B	10662706	1.000000	0.71417	0.992000	0.48379	0.936000	0.57629	7.742000	0.85008	2.894000	0.99253	0.655000	0.94253	GGG	-	NULL		0.463	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	FAM38B	protein_coding	OTTHUMT00000442385.4	C	NM_022068		10662706	-1	no_errors	NM_022068	genbank	human	predicted	54_36p	missense	SNP	1.000	G
SCML2	10389	genome.wustl.edu	37	X	18264896	18264896	+	Silent	SNP	T	T	C			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chrX:18264896T>C	ENST00000251900.4	-	13	1782	c.1623A>G	c.(1621-1623)tcA>tcG	p.S541S	SCML2_ENST00000398048.3_Silent_p.S277S	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	541					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TAGAATCTTCTGAAAGATTCT	0.388																																					Esophageal Squamous(100;1252 1965 19021 35517)											0			X											83.0	90.0	88.0					X																	18264896		2203	4300	6503	18174817	SO:0001819	synonymous_variant	10389			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1623A>G	X.37:g.18264896T>C			18174817	Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Silent	SNP	superfamily_Tudor/PWWP/MBT,HMMSmart_SM00561,HMMPfam_MBT,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1	p.S541	ENST00000251900.4	37	c.1623	CCDS14185.1	X	.	.	.	.	.	.	.	.	.	.	T	5.018	0.189037	0.09547	.	.	ENSG00000102098	ENST00000420857	.	.	.	5.44	2.93	0.34026	.	.	.	.	.	T	0.58090	0.2098	.	.	.	0.43688	D	0.996136	.	.	.	.	.	.	T	0.49698	-0.8912	4	.	.	.	.	8.8514	0.35201	0.6838:0.0:0.0:0.3162	.	.	.	.	R	57	.	.	Q	-	2	0	SCML2	18174817	1.000000	0.71417	0.006000	0.13384	0.002000	0.02628	2.324000	0.43831	0.186000	0.20125	-0.400000	0.06385	CAG	-	NULL		0.388	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCML2	protein_coding	OTTHUMT00000055941.1	T	NM_006089		18174817	-1	no_errors	NM_006089	genbank	human	validated	54_36p	silent	SNP	0.986	C
OR4Q3	441669	genome.wustl.edu	37	14	20216332	20216332	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr14:20216332G>A	ENST00000331723.1	+	1	746	c.746G>A	c.(745-747)aGc>aAc	p.S249N		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACAGTGGTCAGCCTGATCTTC	0.458																																																0			14											174.0	168.0	170.0					14																	20216332		2203	4300	6503	19286172	SO:0001583	missense	441669			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.746G>A	14.37:g.20216332G>A	ENSP00000330049:p.Ser249Asn		19286172	Q6IEX4	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.S249N	ENST00000331723.1	37	c.746	CCDS32020.1	14	.	.	.	.	.	.	.	.	.	.	.	12.88	2.071259	0.36566	.	.	ENSG00000182652	ENST00000331723	T	0.38560	1.13	4.1	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	0.341325	0.20866	U	0.084253	T	0.50429	0.1615	M	0.89030	3	0.24776	N	0.992842	P	0.38677	0.642	B	0.41412	0.356	T	0.54437	-0.8294	10	0.87932	D	0	.	8.4622	0.32934	0.0:0.0:0.6458:0.3542	.	249	Q8NH05	OR4Q3_HUMAN	N	249	ENSP00000330049:S249N	ENSP00000330049:S249N	S	+	2	0	OR4Q3	19286172	0.000000	0.05858	1.000000	0.80357	0.134000	0.20937	0.081000	0.14823	2.106000	0.64143	0.509000	0.49947	AGC	-	superfamily_SSF81321,HMMPfam_7tm_1		0.458	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4Q3	protein_coding	OTTHUMT00000409818.2	G			19286172	+1	no_errors	NM_172194	genbank	human	provisional	54_36p	missense	SNP	0.939	A
SNRPN	6638	genome.wustl.edu	37	15	25222124	25222124	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr15:25222124C>G	ENST00000400100.1	+	10	1258	c.368C>G	c.(367-369)gCc>gGc	p.A123G	SNRPN_ENST00000577565.1_Missense_Mutation_p.A123G|SNURF_ENST00000338094.6_3'UTR|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000346403.6_Missense_Mutation_p.A123G|SNRPN_ENST00000390687.4_Missense_Mutation_p.A123G|SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000400098.1_Missense_Mutation_p.A123G|SNRPN_ENST00000554227.2_Missense_Mutation_p.A127G|SNRPN_ENST00000444203.2_Missense_Mutation_p.A127G|SNRPN_ENST00000400097.1_Missense_Mutation_p.A123G	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	123					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		ATTCCCCAGGCCCCTGCTGGA	0.582									Prader-Willi syndrome																																							0			15											49.0	52.0	51.0					15																	25222124		1856	4100	5956	22773217	SO:0001583	missense	6638	Familial Cancer Database	Prader-Labhart-Willi syndrome	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.368C>G	15.37:g.25222124C>G	ENSP00000382972:p.Ala123Gly		22773217	B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	superfamily_Sm-like ribonucleoproteins,HMMPfam_LSM,HMMSmart_SM00651	p.A123G	ENST00000400100.1	37	c.368	CCDS10017.1	15	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721078	0.48728	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.51071	0.73;0.73;0.73;0.72;0.73;0.72	3.79	0.694	0.18062	.	0.118422	0.56097	N	0.000027	T	0.35595	0.0937	M	0.66439	2.03	0.80722	D	1	P;P	0.39250	0.665;0.665	B;B	0.32624	0.149;0.149	T	0.12167	-1.0558	10	0.59425	D	0.04	-6.3302	3.7667	0.08626	0.1681:0.571:0.1634:0.0976	.	127;123	B3KVR1;P63162	.;RSMN_HUMAN	G	123;123;123;127;123;127	ENSP00000382972:A123G;ENSP00000382970:A123G;ENSP00000382969:A123G;ENSP00000452342:A127G;ENSP00000375105:A123G;ENSP00000408767:A127G	ENSP00000375105:A123G	A	+	2	0	SNRPN	22773217	1.000000	0.71417	0.935000	0.37517	0.984000	0.73092	6.263000	0.72521	0.162000	0.19483	0.561000	0.74099	GCC	-	NULL		0.582	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNRPN	protein_coding	OTTHUMT00000413849.10	C	NM_003097		22773217	+1	no_errors	NM_003097	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
ABI1	10006	genome.wustl.edu	37	10	27044653	27044653	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr10:27044653G>A	ENST00000376142.2	-	10	1167	c.1096C>T	c.(1096-1098)Cct>Tct	p.P366S	ABI1_ENST00000355394.4_Missense_Mutation_p.P367S|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376139.2_Missense_Mutation_p.P334S|ABI1_ENST00000376160.1_Missense_Mutation_p.P333S|ABI1_ENST00000376134.3_Missense_Mutation_p.P340S|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000359188.4_Missense_Mutation_p.P338S|ABI1_ENST00000346832.5_Intron|ABI1_ENST00000376166.1_Intron|ABI1_ENST00000376140.3_Missense_Mutation_p.P339S|ABI1_ENST00000376138.3_Intron|ABI1_ENST00000376170.4_Intron|ABI1_ENST00000376137.4_Missense_Mutation_p.P281S	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	366	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATAGGGGGAGGGGGTGGAGCA	0.453																																																0			10											91.0	93.0	92.0					10																	27044653		2203	4300	6503	27084659	SO:0001583	missense	10006			U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.1096C>T	10.37:g.27044653G>A	ENSP00000365312:p.Pro366Ser		27084659	A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	HMMPfam_Abi_HHR,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326	p.P366S	ENST00000376142.2	37	c.1096	CCDS7150.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.115360	0.94339	.	.	ENSG00000136754	ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000376134;ENST00000376137;ENST00000376140	T;T;T;T;T;T;T;T	0.46819	0.99;0.92;0.94;0.89;1.08;0.86;1.09;0.97	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.68072	0.2961	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D	0.89917	0.993;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.968;0.999;1.0;1.0;0.998	T	0.66674	-0.5864	10	0.49607	T	0.09	-0.2412	19.6869	0.95982	0.0:0.0:1.0:0.0	.	280;338;334;339;366	B6VEX3;Q8IZP0-6;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;ABI1_HUMAN	S	333;366;338;334;367;340;281;339	ENSP00000365330:P333S;ENSP00000365312:P366S;ENSP00000352114:P338S;ENSP00000365309:P334S;ENSP00000347555:P367S;ENSP00000365304:P340S;ENSP00000365307:P281S;ENSP00000365310:P339S	ENSP00000347555:P367S	P	-	1	0	ABI1	27084659	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.726000	0.93360	0.655000	0.94253	CCT	-	NULL		0.453	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI1	protein_coding	OTTHUMT00000047287.1	G	NM_005470		27084659	-1	no_errors	NM_005470	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
N4BP2L1	90634	genome.wustl.edu	37	13	32977286	32977286	+	Silent	SNP	C	C	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr13:32977286C>A	ENST00000380133.2	-	5	575	c.525G>T	c.(523-525)cgG>cgT	p.R175R	N4BP2L1_ENST00000380130.2_Silent_p.R175R|N4BP2L1_ENST00000530622.2_Silent_p.R69R|N4BP2L1_ENST00000380139.4_Missense_Mutation_p.V173L|N4BP2L1_ENST00000459716.1_5'UTR			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	175										large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		CGTGTTCATACCGTTCTTTCA	0.388																																																0			13											247.0	226.0	233.0					13																	32977286		2203	4300	6503	31875286	SO:0001819	synonymous_variant	90634			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380133.2:c.525G>T	13.37:g.32977286C>A			31875286	A4QN21|Q5TBK0	Missense_Mutation	SNP	superfamily_SSF52540	p.V173L	ENST00000380133.2	37	c.517	CCDS9345.2	13	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905909	0.72868	.	.	ENSG00000139597	ENST00000380139	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	T	0.48040	0.1478	.	.	.	0.80722	D	1	P	0.46784	0.884	B	0.38500	0.275	T	0.55848	-0.8076	7	0.87932	D	0	.	15.3627	0.74492	0.0:0.861:0.139:0.0	.	173	Q5TBK1-2	.	L	173	.	ENSP00000369484:V173L	V	-	1	0	N4BP2L1	31875286	0.969000	0.33509	1.000000	0.80357	0.999000	0.98932	0.221000	0.17680	2.760000	0.94817	0.655000	0.94253	GTA	-	NULL		0.388	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	N4BP2L1	protein_coding	OTTHUMT00000044412.2	C	NM_052818		31875286	-1	no_errors	NM_001079691	genbank	human	validated	54_36p	missense	SNP	1.000	A
TBC1D1	23216	genome.wustl.edu	37	4	38117507	38117507	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr4:38117507A>G	ENST00000261439.4	+	16	3089	c.2734A>G	c.(2734-2736)Atg>Gtg	p.M912V	TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Missense_Mutation_p.M1006V	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	912	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GGCGTTTAAAATGCTCAAGTT	0.428																																																0			4											136.0	132.0	134.0					4																	38117507		2203	4300	6503	37793902	SO:0001583	missense	23216			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.2734A>G	4.37:g.38117507A>G	ENSP00000261439:p.Met912Val		37793902	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,PatternScan_LECTIN_LEGUME_BETA,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164	p.M912V	ENST00000261439.4	37	c.2734	CCDS33972.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.0|22.0	4.233377|4.233377	0.79688|0.79688	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000454732|ENST00000510573	T;T|.	0.10668|.	2.85;2.85|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Rab-GAP/TBC domain (4);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.47303|0.47303	0.1438|0.1438	N|N	0.12831|0.12831	0.26|0.26	0.80722|0.80722	D|D	1|1	P;P;D|.	0.56521|.	0.86;0.938;0.976|.	P;P;P|.	0.60012|.	0.825;0.867;0.852|.	T|T	0.45041|0.45041	-0.9288|-0.9288	10|5	0.17832|.	T|.	0.49|.	-28.3484|-28.3484	15.7734|15.7734	0.78190|0.78190	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1006;644;912|.	E9PGH8;Q6PJJ8;Q86TI0|.	.;.;TBCD1_HUMAN|.	V|S	1006;912;176|599	ENSP00000423651:M1006V;ENSP00000261439:M912V|.	ENSP00000261439:M912V|.	M|N	+|+	1|2	0|0	TBC1D1|TBC1D1	37793902|37793902	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.993000|0.993000	0.82548|0.82548	6.922000|6.922000	0.75811|0.75811	2.136000|2.136000	0.66102|0.66102	0.459000|0.459000	0.35465|0.35465	ATG|AAT	-	superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164		0.428	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	protein_coding	OTTHUMT00000317443.2	A	NM_015173		37793902	+1	no_errors	NM_015173	genbank	human	validated	54_36p	missense	SNP	1.000	G
NHLRC3	387921	genome.wustl.edu	37	13	39618257	39618257	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr13:39618257A>G	ENST00000379600.3	+	5	939	c.617A>G	c.(616-618)aAt>aGt	p.N206S	NHLRC3_ENST00000470258.1_Missense_Mutation_p.N9S|NHLRC3_ENST00000379599.2_Missense_Mutation_p.N139S	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	206						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		CATGGAGAAAATGGGACAGGG	0.393																																																0			13											266.0	261.0	263.0					13																	39618257		2203	4300	6503	38516257	SO:0001583	missense	387921				CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.617A>G	13.37:g.39618257A>G	ENSP00000368920:p.Asn206Ser		38516257	B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	superfamily_SSF101898,HMMPfam_NHL	p.N206S	ENST00000379600.3	37	c.617	CCDS31961.1	13	.	.	.	.	.	.	.	.	.	.	A	12.65	2.000327	0.35320	.	.	ENSG00000188811	ENST00000470258;ENST00000379600;ENST00000379599;ENST00000537150	T;T;T	0.63096	-0.02;0.98;-0.02	5.88	3.49	0.39957	Six-bladed beta-propeller, TolB-like (1);	0.290961	0.42420	N	0.000720	T	0.42899	0.1223	N	0.25286	0.73	0.18873	N	0.999989	B;B;B	0.15141	0.012;0.011;0.008	B;B;B	0.12837	0.008;0.008;0.005	T	0.21449	-1.0245	9	.	.	.	-13.6645	7.8612	0.29511	0.7771:0.0:0.2229:0.0	.	139;206;206	B4DTL0;Q5JS37;B4DRC8	.;NHLC3_HUMAN;.	S	9;206;139;139	ENSP00000418127:N9S;ENSP00000368920:N206S;ENSP00000368919:N139S	.	N	+	2	0	NHLRC3	38516257	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.900000	0.56295	0.500000	0.27991	0.528000	0.53228	AAT	-	superfamily_SSF101898		0.393	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC3	protein_coding	OTTHUMT00000044616.2	A	NM_001012754		38516257	+1	no_errors	NM_001012754	genbank	human	validated	54_36p	missense	SNP	0.997	G
NGFR	4804	genome.wustl.edu	37	17	47583824	47583824	+	Silent	SNP	G	G	A	rs140228242		TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr17:47583824G>A	ENST00000172229.3	+	3	497	c.372G>A	c.(370-372)gcG>gcA	p.A124A	NGFR_ENST00000504201.1_Silent_p.A30A|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	124					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCTGCGAGGCGTGCCGCGTGT	0.697																																																0			17						G		0,4384		0,0,2192	24.0	19.0	21.0		372	-4.3	1.0	17	dbSNP_134	21	1,8551		0,1,4275	no	coding-synonymous	NGFR	NM_002507.3		0,1,6467	AA,AG,GG		0.0117,0.0,0.0077		124/428	47583824	1,12935	2192	4276	6468	44938823	SO:0001819	synonymous_variant	4804			M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.372G>A	17.37:g.47583824G>A			44938823	B2R961|B4E096	Silent	SNP	PatternScan_LIPASE_SER,superfamily_TNF receptor-like,HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,PatternScan_EGF_2,superfamily_DEATH domain,HMMSmart_SM00005,HMMPfam_Death	p.A124	ENST00000172229.3	37	c.372	CCDS11549.1	17																																																																																			-	superfamily_TNF receptor-like,PatternScan_TNFR_NGFR_1,HMMPfam_TNFR_c6,HMMSmart_SM00208		0.697	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGFR	protein_coding	OTTHUMT00000365150.1	G			44938823	+1	no_errors	NM_002507	genbank	human	reviewed	54_36p	silent	SNP	0.758	A
OR13A1	79290	genome.wustl.edu	37	10	45799338	45799338	+	Missense_Mutation	SNP	G	G	A	rs548749406		TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr10:45799338G>A	ENST00000553795.1	-	4	841	c.533C>T	c.(532-534)aCg>aTg	p.T178M	OR13A1_ENST00000374401.2_Missense_Mutation_p.T178M|OR13A1_ENST00000536058.1_Missense_Mutation_p.T178M	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						CATCAGCCCCGTGTGGATGGC	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		21078	0.0		0.0	False		,,,				2504	0.001															0			10											42.0	45.0	44.0					10																	45799338		2201	4297	6498	45119344	SO:0001583	missense	79290			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.533C>T	10.37:g.45799338G>A	ENSP00000451950:p.Thr178Met		45119344	Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.T178M	ENST00000553795.1	37	c.533	CCDS31188.1	10	.	.	.	.	.	.	.	.	.	.	g	7.419	0.636429	0.14386	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00265	8.39;8.39;8.39	5.78	3.95	0.45737	GPCR, rhodopsin-like superfamily (1);	0.276195	0.25768	N	0.028431	T	0.00300	0.0009	M	0.70842	2.15	0.09310	N	1	B	0.25743	0.133	B	0.34452	0.183	T	0.28902	-1.0029	10	0.72032	D	0.01	-19.5976	15.0034	0.71492	0.0771:0.0:0.9229:0.0	.	178	Q8NGR1	O13A1_HUMAN	M	178	ENSP00000451950:T178M;ENSP00000438657:T178M;ENSP00000363522:T178M	ENSP00000311379:T178M	T	-	2	0	OR13A1	45119344	0.178000	0.23122	0.610000	0.28997	0.154000	0.21943	1.852000	0.39348	0.791000	0.33826	-0.850000	0.03035	ACG	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.602	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OR13A1	protein_coding	OTTHUMT00000047779.2	G	NM_001004297		45119344	-1	no_errors	NM_001004297	genbank	human	validated	54_36p	missense	SNP	0.047	A
MRO	83876	genome.wustl.edu	37	18	48327833	48327833	+	Silent	SNP	C	C	T			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr18:48327833C>T	ENST00000428869.2	-	7	729	c.471G>A	c.(469-471)ggG>ggA	p.G157G	MRO_ENST00000588444.1_Intron|MRO_ENST00000431965.2_Intron|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000398439.3_Silent_p.G157G|MRO_ENST00000436348.2_Silent_p.G171G|MRO_ENST00000256425.2_Silent_p.G157G			Q9BYG7	MSTRO_HUMAN	maestro	157						nucleolus (GO:0005730)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CAGCCAATTGCCCAAACAAAA	0.453																																																0			18											160.0	157.0	158.0					18																	48327833		2203	4300	6503	46581831	SO:0001819	synonymous_variant	83876			AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"""maestro heat-like repeat containing"""	24121	protein-coding gene	gene with protein product	"""B29 protein"", ""beside the Ma29 deletion"""	608080	"""chromosome 18 open reading frame 3"""	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.471G>A	18.37:g.48327833C>T			46581831	B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Silent	SNP	superfamily_ARM repeat	p.G157	ENST00000428869.2	37	c.471	CCDS11947.1	18																																																																																			-	superfamily_ARM repeat		0.453	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MRO	protein_coding	OTTHUMT00000449478.2	C	NM_031939		46581831	-1	no_errors	NM_031939	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
KRT2	3849	genome.wustl.edu	37	12	53045435	53045435	+	Silent	SNP	G	G	A	rs201708557		TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr12:53045435G>A	ENST00000309680.3	-	1	513	c.492C>T	c.(490-492)aaC>aaT	p.N164N		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	164	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CAACTTTCACGTTGAGAGGCT	0.527																																																0			12											133.0	132.0	132.0					12																	53045435		2203	4300	6503	51331702	SO:0001819	synonymous_variant	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.492C>T	12.37:g.53045435G>A			51331702	Q4VAQ2	Silent	SNP	HMMPfam_Filament,PatternScan_IF	p.N164	ENST00000309680.3	37	c.492	CCDS8835.1	12																																																																																			-	NULL		0.527	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT2	protein_coding	OTTHUMT00000405704.1	G	NM_000423		51331702	-1	no_errors	NM_000423	genbank	human	reviewed	54_36p	silent	SNP	0.028	A
MMP2	4313	genome.wustl.edu	37	16	55532290	55532290	+	Silent	SNP	C	C	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr16:55532290C>A	ENST00000219070.4	+	11	2208	c.1699C>A	c.(1699-1701)Cga>Aga	p.R567R	MMP2_ENST00000437642.2_Silent_p.R517R|MMP2_ENST00000570308.1_Silent_p.R491R|MMP2_ENST00000543485.1_Silent_p.R491R	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	567	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.R567*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TGATGTCCAGCGAGTGGATGC	0.562																																																1	Substitution - Nonsense(1)	lung(1)	16											96.0	87.0	90.0					16																	55532290		2198	4300	6498	54089791	SO:0001819	synonymous_variant	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1699C>A	16.37:g.55532290C>A			54089791	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	superfamily_PGBD_like,HMMPfam_PG_binding_1,PatternScan_CYSTEINE_SWITCH,superfamily_SSF55486,HMMSmart_ZnMc,HMMPfam_Peptidase_M10,superfamily_Kringle-like,HMMSmart_FN2,HMMPfam_fn2,PatternScan_FN2_1,PatternScan_ZINC_PROTEASE,superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX,PatternScan_HEMOPEXIN	p.R567	ENST00000219070.4	37	c.1699	CCDS10752.1	16																																																																																			-	superfamily_Hemopexin		0.562	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	protein_coding	OTTHUMT00000256913.3	C			54089791	+1	no_errors	NM_004530	genbank	human	reviewed	54_36p	silent	SNP	0.016	A
CEP112	201134	genome.wustl.edu	37	17	63739239	63739239	+	Missense_Mutation	SNP	T	T	G			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr17:63739239T>G	ENST00000392769.2	-	23	2772	c.2554A>C	c.(2554-2556)Aag>Cag	p.K852Q	CEP112_ENST00000541355.1_Intron|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000535342.2_Missense_Mutation_p.K852Q|CEP112_ENST00000537949.1_Missense_Mutation_p.K810Q|CEP112_ENST00000317442.8_Missense_Mutation_p.K108Q	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	852					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TCTTCAAACTTTTGTCTAACA	0.428																																																0			17											99.0	92.0	94.0					17																	63739239		2203	4300	6503	61169701	SO:0001583	missense	201134			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2554A>C	17.37:g.63739239T>G	ENSP00000376522:p.Lys852Gln		61169701	Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	NULL	p.K852Q	ENST00000392769.2	37	c.2554	CCDS32710.1	17	.	.	.	.	.	.	.	.	.	.	T	8.642	0.896128	0.17686	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000317442;ENST00000537949	T;T;T	0.48522	0.81;0.81;0.81	5.27	4.17	0.49024	.	0.381623	0.28284	N	0.015909	T	0.27798	0.0684	N	0.04959	-0.14	0.80722	D	1	B;B;B	0.30281	0.043;0.043;0.275	B;B;B	0.30572	0.047;0.047;0.117	T	0.09997	-1.0649	10	0.44086	T	0.13	-17.8875	12.3628	0.55213	0.0:0.0:0.2649:0.7351	.	810;852;108	F5GYE8;Q8N8E3;Q8N8E3-2	.;CE112_HUMAN;.	Q	852;852;108;810	ENSP00000442784:K852Q;ENSP00000376522:K852Q;ENSP00000440775:K810Q	ENSP00000320592:K108Q	K	-	1	0	CEP112	61169701	1.000000	0.71417	0.997000	0.53966	0.191000	0.23601	3.061000	0.49963	0.938000	0.37419	-0.636000	0.03981	AAG	-	NULL		0.428	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC46	protein_coding	OTTHUMT00000446582.1	T	NM_145036		61169701	-1	no_errors	NM_145036	genbank	human	validated	54_36p	missense	SNP	0.973	G
FAM19A1	407738	genome.wustl.edu	37	3	68466492	68466492	+	Missense_Mutation	SNP	C	C	T	rs550621255		TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr3:68466492C>T	ENST00000478136.1	+	3	671	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	FAM19A1_ENST00000491017.1_3'UTR|FAM19A1_ENST00000496687.1_Missense_Mutation_p.R61W	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	61						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		CATTGAGGAGCGGTCACAAAC	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		17529	0.0		0.0	False		,,,				2504	0.001															0			3											133.0	135.0	134.0					3																	68466492		1974	4137	6111	68549182	SO:0001583	missense	407738			AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.181C>T	3.37:g.68466492C>T	ENSP00000418575:p.Arg61Trp		68549182	A8K0V3|Q8TCL8	Missense_Mutation	SNP	NULL	p.R61W	ENST00000478136.1	37	c.181	CCDS54606.1	3	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911536	0.72983	.	.	ENSG00000183662	ENST00000478136;ENST00000496687	.	.	.	5.67	3.62	0.41486	.	0.050582	0.85682	D	0.000000	T	0.79209	0.4407	M	0.78637	2.42	0.36053	D	0.840901	D	0.89917	1.0	D	0.83275	0.996	D	0.86037	0.1517	9	0.87932	D	0	.	15.947	0.79802	0.3206:0.6794:0.0:0.0	.	61	Q7Z5A9	F19A1_HUMAN	W	61	.	ENSP00000418575:R61W	R	+	1	2	FAM19A1	68549182	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	2.635000	0.46537	0.864000	0.35578	-1.378000	0.01179	CGG	-	NULL		0.473	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM19A1	protein_coding	OTTHUMT00000352004.1	C	NM_213609		68549182	+1	no_errors	NM_213609	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
FOXO4	4303	genome.wustl.edu	37	X	70320730	70320730	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chrX:70320730C>T	ENST00000374259.3	+	2	982	c.650C>T	c.(649-651)tCt>tTt	p.S217F	FOXO4_ENST00000341558.3_Missense_Mutation_p.S162F	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	217					cell cycle arrest (GO:0007050)|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)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					AAGAAACCATCTGTGCTGCCA	0.647											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			X											21.0	22.0	22.0					X																	70320730		1949	4131	6080	70237455	SO:0001583	missense	4303				CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.650C>T	X.37:g.70320730C>T	ENSP00000363377:p.Ser217Phe	1121	70237455	B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	"HMMPfam_Fork_head,superfamily_""Winged helix"" DNA-binding domain,HMMSmart_SM00339,PatternScan_FORK_HEAD_2"	p.S217F	ENST00000374259.3	37	c.650	CCDS43969.1	X	.	.	.	.	.	.	.	.	.	.	C	1.374	-0.585340	0.03827	.	.	ENSG00000184481	ENST00000374259;ENST00000341558	D;D	0.95980	-3.66;-3.87	5.11	2.34	0.29019	.	0.854162	0.10218	N	0.701201	D	0.90587	0.7049	L	0.27053	0.805	0.09310	N	1	B;B;B	0.21225	0.012;0.053;0.012	B;B;B	0.23852	0.016;0.039;0.049	T	0.81810	-0.0762	10	0.54805	T	0.06	-36.4667	6.5062	0.22196	0.3198:0.5949:0.0:0.0853	.	217;162;217	B4DTB6;P98177-2;P98177	.;.;FOXO4_HUMAN	F	217;162	ENSP00000363377:S217F;ENSP00000342209:S162F	ENSP00000342209:S162F	S	+	2	0	FOXO4	70237455	0.362000	0.24980	0.000000	0.03702	0.005000	0.04900	2.670000	0.46833	0.179000	0.19938	-0.372000	0.07161	TCT	-	NULL		0.647	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO4	protein_coding	OTTHUMT00000057115.1	C	NM_005938		70237455	+1	no_errors	NM_005938	genbank	human	validated	54_36p	missense	SNP	0.004	T
NEIL1	79661	genome.wustl.edu	37	15	75647145	75647145	+	Missense_Mutation	SNP	G	G	A	rs376283006		TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr15:75647145G>A	ENST00000564784.1	+	10	1717	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q	MIR631_ENST00000384904.1_RNA|RP11-817O13.6_ENST00000563660.1_lincRNA|NEIL1_ENST00000569035.1_Missense_Mutation_p.R363Q|NEIL1_ENST00000355059.4_Missense_Mutation_p.R363Q			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	363					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.R363Q(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						AGGAAGGGGCGACAGGCAGCC	0.617								Base excision repair (BER), DNA glycosylases																																								1	Substitution - Missense(1)	large_intestine(1)	15						G	GLN/ARG	0,4394		0,0,2197	35.0	41.0	39.0		1088	-6.8	0.0	15		39	1,8587	1.2+/-3.3	0,1,4293	no	missense	NEIL1	NM_024608.2	43	0,1,6490	AA,AG,GG		0.0116,0.0,0.0077	benign	363/391	75647145	1,12981	2197	4294	6491	73434198	SO:0001583	missense	79661			AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.1088G>A	15.37:g.75647145G>A	ENSP00000457352:p.Arg363Gln		73434198	D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Missense_Mutation	SNP	superfamily_N-terminal domain of MutM-like DNA repair proteins,HMMPfam_Fapy_DNA_glyco,superfamily_S13-like H2TH domain,HMMPfam_H2TH,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMPfam_Neil1-DNA_bind	p.R363Q	ENST00000564784.1	37	c.1088	CCDS10278.1	15	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499786	0.26861	0.0	1.16E-4	ENSG00000140398	ENST00000355059	T	0.12774	2.65	4.06	-6.84	0.01687	.	2.658450	0.01189	N	0.007270	T	0.10337	0.0253	N	0.22421	0.69	0.09310	N	1	B	0.17667	0.023	B	0.06405	0.002	T	0.13872	-1.0493	10	0.32370	T	0.25	0.8156	13.8792	0.63672	0.7573:0.0:0.2427:0.0	.	363	Q96FI4	NEIL1_HUMAN	Q	363	ENSP00000347170:R363Q	ENSP00000347170:R363Q	R	+	2	0	NEIL1	73434198	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.108000	0.03313	-1.704000	0.01407	0.555000	0.69702	CGA	-	NULL		0.617	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL1	protein_coding	OTTHUMT00000419885.1	G	NM_024608		73434198	+1	no_errors	NM_024608	genbank	human	validated	54_36p	missense	SNP	0.000	A
ATP9B	374868	genome.wustl.edu	37	18	76936846	76936846	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr18:76936846G>T	ENST00000426216.2	+	8	829	c.812G>T	c.(811-813)gGt>gTt	p.G271V	ATP9B_ENST00000307671.7_Missense_Mutation_p.G271V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	271					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|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)	p.G271V(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CAACTAGATGGTGAAACTGAC	0.453																																																1	Substitution - Missense(1)	lung(1)	18											107.0	103.0	105.0					18																	76936846		2203	4300	6503	75037834	SO:0001583	missense	374868			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.812G>T	18.37:g.76936846G>T	ENSP00000398076:p.Gly271Val		75037834	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N	p.G271V	ENST00000426216.2	37	c.812	CCDS12014.1	18	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902124	0.92035	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	D;D	0.99311	-5.73;-5.73	5.66	5.66	0.87406	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	H	0.98155	4.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.97346	0.9960	10	0.87932	D	0	.	19.7403	0.96228	0.0:0.0:1.0:0.0	.	271;271	O43861;O43861-2	ATP9B_HUMAN;.	V	271	ENSP00000398076:G271V;ENSP00000304500:G271V	ENSP00000304500:G271V	G	+	2	0	ATP9B	75037834	1.000000	0.71417	0.964000	0.40570	0.995000	0.86356	8.857000	0.92250	2.652000	0.90054	0.655000	0.94253	GGT	-	HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A		0.453	ATP9B-001	KNOWN	basic|CCDS	protein_coding	ATP9B	protein_coding	OTTHUMT00000256402.3	G	NM_198531		75037834	+1	no_errors	NM_198531	genbank	human	validated	54_36p	missense	SNP	1.000	T
PDE6G	5148	genome.wustl.edu	37	17	79614951	79614951	+	IGR	SNP	C	C	T	rs79350765	byFrequency	TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr17:79614951C>T	ENST00000331056.5	-	0	1023				PDE6G_ENST00000574777.1_5'Flank|TSPAN10_ENST00000572675.1_RNA|TSPAN10_ENST00000328585.4_RNA	NM_002602.3	NP_002593.1	P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma						activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		Sildenafil(DB00203)|Vardenafil(DB00862)	TGCAGCTCCCCCGGGGTGCAG	0.652													C|||	77	0.0153754	0.0038	0.0115	5008	,	,		13780	0.0		0.0547	False		,,,				2504	0.0092				GBM(189;38 2147 16440 40945 46567)											0			17						C	LEU/PRO	11,3945		0,11,1967	13.0	15.0	14.0		699	3.5	0.1	17	dbSNP_131	14	293,7971		8,277,3847	yes	missense	TSPAN10	NM_031945.3	98	8,288,5814	TT,TC,CC		3.5455,0.2781,2.4877	probably-damaging	232/356	79614951	304,11916	1978	4132	6110	77225356	SO:0001628	intergenic_variant	83882				CCDS11783.1	17q21.1	2014-01-28				ENSG00000185527	3.1.4.17	"""Phosphodiesterases"""	8789	protein-coding gene	gene with protein product		180073		PDEG		2155175	Standard	NM_002602		Approved	RP57	uc002kay.3	P18545			17.37:g.79614951C>T			77225356	Q3KP63|Q7Z3U8	Missense_Mutation	SNP	HMMPfam_Tetraspannin,PatternScan_TM4_1,superfamily_Tetraspanin	p.P232L	ENST00000331056.5	37	c.695	CCDS11783.1	17	49	0.022435897435897436	3	0.006097560975609756	5	0.013812154696132596	0	0.0	41	0.05408970976253298	C	16.05	3.012594	0.54468	0.002781	0.035455	ENSG00000182612	ENST00000328585	T	0.77620	-1.11	4.48	3.51	0.40186	Tetraspanin, EC2 domain (1);	0.140827	0.48767	N	0.000167	T	0.56834	0.2012	.	.	.	0.38326	D	0.943654	D	0.62365	0.991	D	0.66716	0.946	T	0.78516	-0.2174	9	0.72032	D	0.01	-15.7062	11.8247	0.52261	0.0:0.9134:0.0:0.0866	.	232	Q9H1Z9	TSN10_HUMAN	L	232	ENSP00000331620:P232L	ENSP00000331620:P232L	P	+	2	0	TSPAN10	77225356	0.757000	0.28394	0.050000	0.19076	0.253000	0.25986	3.859000	0.55987	1.084000	0.41184	0.655000	0.94253	CCC	-	HMMPfam_Tetraspannin,superfamily_Tetraspanin		0.652	PDE6G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN10	protein_coding	OTTHUMT00000440314.1	C			77225356	+1	no_errors	ENST00000328585	ensembl	human	known	54_36p	missense	SNP	0.404	T
LIPN	643418	genome.wustl.edu	37	10	90526063	90526063	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr10:90526063A>G	ENST00000404459.1	+	4	463	c.463A>G	c.(463-465)Ata>Gta	p.I155V		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	155					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		CCCAGGAGTAATAGACTTCAT	0.348																																																0			10											146.0	140.0	142.0					10																	90526063		1811	4069	5880	90516043	SO:0001583	missense	643418				CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"""lipase-like, ab-hydrolase domain containing 4"""	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.463A>G	10.37:g.90526063A>G	ENSP00000383923:p.Ile155Val		90516043	A7KIH9	Missense_Mutation	SNP	HMMPfam_Abhydro_lipase,superfamily_SSF53474,HMMPfam_Abhydrolase_1,PatternScan_LIPASE_SER	p.I155V	ENST00000404459.1	37	c.463	CCDS44456.1	10	.	.	.	.	.	.	.	.	.	.	A	8.886	0.952810	0.18431	.	.	ENSG00000204020	ENST00000404459	T	0.72282	-0.64	5.27	-1.14	0.09741	Alpha/beta hydrolase fold-1 (1);	0.296096	0.29884	N	0.010949	T	0.56949	0.2020	L	0.39566	1.225	0.25356	N	0.988826	B	0.12013	0.005	B	0.20577	0.03	T	0.49872	-0.8893	10	0.51188	T	0.08	-12.1808	9.2748	0.37692	0.6052:0.0:0.3948:0.0	.	155	Q5VXI9	LIPN_HUMAN	V	155	ENSP00000383923:I155V	ENSP00000383923:I155V	I	+	1	0	LIPN	90516043	0.925000	0.31364	0.450000	0.26969	0.738000	0.42128	0.123000	0.15708	-0.351000	0.08249	-0.911000	0.02809	ATA	-	superfamily_SSF53474,HMMPfam_Abhydrolase_1		0.348	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPN	protein_coding	OTTHUMT00000049254.2	A	XM_926751		90516043	+1	no_errors	NM_001102469	genbank	human	validated	54_36p	missense	SNP	0.998	G
ALDOB	229	genome.wustl.edu	37	9	104187133	104187133	+	Missense_Mutation	SNP	G	G	A	rs150407710		TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr9:104187133G>A	ENST00000374855.4	-	8	1115	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	331					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ACCATGGCCCGCTTCATAAAA	0.522																																																0			9						G	TRP/ARG	0,4406		0,0,2203	109.0	105.0	106.0		991	4.7	1.0	9	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ALDOB	NM_000035.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	331/365	104187133	1,13005	2203	4300	6503	103226954	SO:0001583	missense	229			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.991C>T	9.37:g.104187133G>A	ENSP00000363988:p.Arg331Trp		103226954	Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	superfamily_Aldolase,HMMPfam_Glycolytic,PatternScan_ALDOLASE_CLASS_I	p.R331W	ENST00000374855.4	37	c.991	CCDS6756.1	9	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950468	0.73787	0.0	1.16E-4	ENSG00000136872	ENST00000374855	D	0.87887	-2.31	5.63	4.72	0.59763	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.95554	0.8555	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96940	0.9687	10	0.87932	D	0	-12.898	15.1417	0.72615	0.0:0.0:0.8576:0.1424	.	331	P05062	ALDOB_HUMAN	W	331	ENSP00000363988:R331W	ENSP00000363988:R331W	R	-	1	2	ALDOB	103226954	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.531000	0.53546	1.476000	0.48215	0.561000	0.74099	CGG	-	superfamily_Aldolase,HMMPfam_Glycolytic		0.522	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOB	protein_coding	OTTHUMT00000053434.2	G			103226954	-1	no_errors	NM_000035	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
LAMB1	3912	genome.wustl.edu	37	7	107576039	107576039	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr7:107576039C>A	ENST00000222399.6	-	27	4239	c.4009G>T	c.(4009-4011)Gcc>Tcc	p.A1337S	LAMB1_ENST00000393561.1_Missense_Mutation_p.A1361S|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1337	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GTGGTGGAGGCATTCACCCTC	0.488																																																0			7											243.0	208.0	220.0					7																	107576039		2203	4300	6503	107363275	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4009G>T	7.37:g.107576039C>A	ENSP00000222399:p.Ala1337Ser		107363275	Q14D91	Missense_Mutation	SNP	HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_Prefoldin	p.A1337S	ENST00000222399.6	37	c.4009	CCDS5750.1	7	.	.	.	.	.	.	.	.	.	.	C	22.9	4.343895	0.82022	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.33654	1.4;1.4	5.42	5.42	0.78866	.	.	.	.	.	T	0.53222	0.1783	M	0.65498	2.005	0.80722	D	1	P;D	0.63880	0.901;0.993	P;P	0.54664	0.49;0.758	T	0.48758	-0.9007	9	0.41790	T	0.15	.	19.4006	0.94627	0.0:1.0:0.0:0.0	.	1337;1361	P07942;G3XAI2	LAMB1_HUMAN;.	S	1361;1337	ENSP00000377191:A1361S;ENSP00000222399:A1337S	ENSP00000222399:A1337S	A	-	1	0	LAMB1	107363275	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	4.434000	0.59935	2.820000	0.97059	0.650000	0.86243	GCC	-	NULL		0.488	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	protein_coding	OTTHUMT00000314584.1	C	NM_002291		107363275	-1	no_errors	NM_002291	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SCML4	256380	genome.wustl.edu	37	6	108076796	108076796	+	Intron	SNP	G	G	C			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr6:108076796G>C	ENST00000369020.3	-	3	402				SCML4_ENST00000369021.3_Silent_p.T16T|SCML4_ENST00000369022.2_Intron	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GGAATGGGGGGGTTCTCTGCC	0.473																																																0			6											119.0	105.0	109.0					6																	108076796		2203	4300	6503	108183489	SO:0001627	intron_variant	256380				CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.157-5779C>G	6.37:g.108076796G>C			108183489	B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Silent	SNP	NULL	p.T16	ENST00000369020.3	37	c.48	CCDS5060.2	6																																																																																			-	NULL		0.473	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SCML4	protein_coding	OTTHUMT00000041700.3	G	XM_171128		108183489	-1	no_errors	NM_198081	genbank	human	validated	54_36p	silent	SNP	0.003	C
GUCY2F	2986	genome.wustl.edu	37	X	108636263	108636263	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chrX:108636263T>C	ENST00000218006.2	-	13	2737	c.2446A>G	c.(2446-2448)Aag>Gag	p.K816E		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	816					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TTGGTCTTCTTCCCTTTATTA	0.383																																																0			X											99.0	94.0	95.0					X																	108636263		2203	4300	6503	108522919	SO:0001583	missense	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2446A>G	X.37:g.108636263T>C	ENSP00000218006:p.Lys816Glu		108522919	Q9UJF1	Missense_Mutation	SNP	superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1	p.K816E	ENST00000218006.2	37	c.2446	CCDS14545.1	X	.	.	.	.	.	.	.	.	.	.	T	18.63	3.664619	0.67700	.	.	ENSG00000101890	ENST00000218006	T	0.61742	0.08	4.15	4.15	0.48705	Protein kinase-like domain (1);	0.213876	0.47093	N	0.000260	T	0.64011	0.2560	M	0.81239	2.535	0.50039	D	0.999843	B	0.32893	0.389	B	0.42959	0.403	T	0.63014	-0.6731	10	0.30078	T	0.28	.	10.516	0.44889	0.0:0.0:0.0:1.0	.	816	P51841	GUC2F_HUMAN	E	816	ENSP00000218006:K816E	ENSP00000218006:K816E	K	-	1	0	GUCY2F	108522919	1.000000	0.71417	0.999000	0.59377	0.812000	0.45895	4.004000	0.57068	1.845000	0.53610	0.417000	0.27973	AAG	-	superfamily_Protein kinase-like (PK-like)		0.383	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	protein_coding	OTTHUMT00000057884.1	T	NM_001522		108522919	-1	no_errors	NM_001522	genbank	human	reviewed	54_36p	missense	SNP	0.994	C
DRD2	1813	genome.wustl.edu	37	11	113286216	113286216	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr11:113286216C>T	ENST00000362072.3	-	5	994	c.650G>A	c.(649-651)cGc>cAc	p.R217H	DRD2_ENST00000544518.1_Missense_Mutation_p.R216H|DRD2_ENST00000355319.2_Missense_Mutation_p.R217H|DRD2_ENST00000346454.3_Missense_Mutation_p.R217H|DRD2_ENST00000538967.1_Missense_Mutation_p.R217H|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Missense_Mutation_p.R217H	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	217	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCGGCGTCTGCGGAGGACAAT	0.572																																																0			11											174.0	151.0	159.0					11																	113286216		2201	4296	6497	112791426	SO:0001583	missense	1813			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.650G>A	11.37:g.113286216C>T	ENSP00000354859:p.Arg217His		112791426	Q9NZR3|Q9UPA9	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.R217H	ENST00000362072.3	37	c.650	CCDS8361.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.216223	0.95104	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.67	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67655	0.2916	M	0.85945	2.785	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.77004	0.969;0.981;0.981;0.989	T	0.74300	-0.3710	10	0.87932	D	0	.	14.461	0.67450	0.0:0.9297:0.0:0.0703	.	216;217;217;217	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	H	217;217;217;216;217;217	ENSP00000347474:R217H;ENSP00000278597:R217H;ENSP00000354859:R217H;ENSP00000441068:R216H;ENSP00000442172:R217H;ENSP00000438215:R217H	ENSP00000278597:R217H	R	-	2	0	DRD2	112791426	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.088000	0.71371	1.398000	0.46701	0.561000	0.74099	CGC	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.572	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	protein_coding	OTTHUMT00000395834.1	C	NM_000795		112791426	-1	no_errors	NM_000795	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
GLUD2	2747	genome.wustl.edu	37	X	120182079	120182079	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chrX:120182079G>C	ENST00000328078.1	+	1	618	c.541G>C	c.(541-543)Ggt>Cgt	p.G181R		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	181					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						GCCGTTTGGGGGTGCTAAAGC	0.448																																																0			X											118.0	92.0	101.0					X																	120182079		2203	4300	6503	120009760	SO:0001583	missense	2747			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.541G>C	X.37:g.120182079G>C	ENSP00000327589:p.Gly181Arg		120009760	B2R8G0|Q9UDQ4	Missense_Mutation	SNP	superfamily_SSF53223,HMMPfam_ELFV_dehydrog_N,PatternScan_GLFV_DEHYDROGENASE,HMMPfam_ELFV_dehydrog,superfamily_NAD(P)-bd	p.G181R	ENST00000328078.1	37	c.541	CCDS14603.1	X	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053042	0.36181	.	.	ENSG00000182890	ENST00000328078	D	0.99637	-6.29	1.62	1.62	0.23740	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.000000	0.85682	D	0.000000	D	0.99778	0.9908	H	0.99705	4.715	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97294	0.9926	10	0.87932	D	0	.	8.8196	0.35018	0.0:0.0:1.0:0.0	.	181	P49448	DHE4_HUMAN	R	181	ENSP00000327589:G181R	ENSP00000327589:G181R	G	+	1	0	GLUD2	120009760	1.000000	0.71417	0.570000	0.28473	0.138000	0.21146	4.523000	0.60545	1.139000	0.42245	0.472000	0.43445	GGT	-	superfamily_SSF53223,HMMPfam_ELFV_dehydrog_N,PatternScan_GLFV_DEHYDROGENASE		0.448	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD2	protein_coding	OTTHUMT00000058133.1	G	NM_012084		120009760	+1	no_errors	NM_012084	genbank	human	validated	54_36p	missense	SNP	1.000	C
CADPS2	93664	genome.wustl.edu	37	7	122303605	122303605	+	Nonsense_Mutation	SNP	G	G	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr7:122303605G>A	ENST00000449022.2	-	3	491	c.472C>T	c.(472-474)Cga>Tga	p.R158*	CADPS2_ENST00000334010.7_Nonsense_Mutation_p.R158*|CADPS2_ENST00000313070.7_Nonsense_Mutation_p.R158*|CADPS2_ENST00000412584.2_Nonsense_Mutation_p.R158*	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	158					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CTGGCCACTCGGTCACTCTTT	0.373																																																0			7											19.0	18.0	18.0					7																	122303605		1848	4102	5950	122090841	SO:0001587	stop_gained	93664				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.472C>T	7.37:g.122303605G>A	ENSP00000398481:p.Arg158*		122090841	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Nonsense_Mutation	SNP	HMMPfam_C2,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_DUF1041	p.R158*	ENST00000449022.2	37	c.472	CCDS55158.1	7	.	.	.	.	.	.	.	.	.	.	G	41	8.919678	0.99002	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	.	.	.	5.27	4.38	0.52667	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2869	13.0688	0.59048	0.0:0.0:0.7078:0.2922	.	.	.	.	X	158;158;158;125;158;158	.	ENSP00000325581:R158X	R	-	1	2	CADPS2	122090841	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.698000	0.61789	1.206000	0.43276	0.650000	0.86243	CGA	-	NULL		0.373	CADPS2-001	KNOWN	basic|CCDS	protein_coding	CADPS2	protein_coding	OTTHUMT00000347414.2	G	NM_017954		122090841	-1	no_errors	NM_017954	genbank	human	validated	54_36p	nonsense	SNP	1.000	A
TRPC3	7222	genome.wustl.edu	37	4	122852969	122852969	+	Intron	SNP	T	T	C	rs77881224	byFrequency	TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr4:122852969T>C	ENST00000379645.3	-	2	1061				TRPC3_ENST00000513531.1_Intron|TRPC3_ENST00000264811.5_Intron	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						gagcttgctctgtccagtcca	0.433													C|||	261	0.0521166	0.1649	0.0418	5008	,	,		18641	0.0		0.0109	False		,,,				2504	0.0031															0			4																																								123072419	SO:0001627	intron_variant	0			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.987+456A>G	4.37:g.122852969T>C			123072419	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	RNA	SNP	-	NULL	ENST00000379645.3	37	NULL	CCDS47130.1	4																																																																																			-	-		0.433	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000209322	protein_coding	OTTHUMT00000364252.1	T	NM_003305		123072419	+1	pseudogene	ENST00000386587	ensembl	human	novel	54_36p	rna	SNP	0.006	C
WASL	8976	genome.wustl.edu	37	7	123346825	123346825	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr7:123346825G>A	ENST00000223023.4	-	3	640	c.308C>T	c.(307-309)cCt>cTt	p.P103L		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	103	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATATCCTCTAGGACTATTATA	0.279																																																0			7											45.0	50.0	49.0					7																	123346825		2196	4274	6470	123134061	SO:0001583	missense	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.308C>T	7.37:g.123346825G>A	ENSP00000223023:p.Pro103Leu		123134061	A1JUI9|Q7Z746	Missense_Mutation	SNP	superfamily_SSF50729,HMMPfam_WH1,HMMSmart_WH1,HMMPfam_PBD,HMMSmart_PBD,superfamily_WASP_C,HMMPfam_WH2,HMMSmart_WH2	p.P103L	ENST00000223023.4	37	c.308	CCDS34743.1	7	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447313	0.84101	.	.	ENSG00000106299	ENST00000223023	D	0.98684	-5.07	5.56	5.56	0.83823	EVH1 (3);Pleckstrin homology-type (1);	0.104649	0.64402	D	0.000002	D	0.97334	0.9128	L	0.38838	1.175	0.80722	D	1	P	0.37663	0.604	B	0.40477	0.33	D	0.97650	1.0154	10	0.87932	D	0	-11.1391	19.9019	0.96988	0.0:0.0:1.0:0.0	.	103	O00401	WASL_HUMAN	L	103	ENSP00000223023:P103L	ENSP00000223023:P103L	P	-	2	0	WASL	123134061	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.972000	0.70448	2.781000	0.95711	0.650000	0.86243	CCT	-	superfamily_SSF50729,HMMPfam_WH1,HMMSmart_WH1		0.279	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASL	protein_coding	OTTHUMT00000348522.1	G	NM_003941		123134061	-1	no_errors	NM_003941	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ENOX2	10495	genome.wustl.edu	37	X	129762011	129762011	+	Missense_Mutation	SNP	A	A	C			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chrX:129762011A>C	ENST00000370927.1	-	12	1643	c.1622T>G	c.(1621-1623)aTc>aGc	p.I541S	ENOX2_ENST00000370935.1_Missense_Mutation_p.I512S|ENOX2_ENST00000394363.1_Missense_Mutation_p.I512S|ENOX2_ENST00000338144.3_Missense_Mutation_p.I541S			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	541					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GAATGTGGAGATAATCCCTAC	0.423																																					Ovarian(101;828 1506 2951 9500 35258)											0			X											228.0	192.0	204.0					X																	129762011		2203	4300	6503	129589692	SO:0001583	missense	10495			AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1622T>G	X.37:g.129762011A>C	ENSP00000359965:p.Ile541Ser		129589692	A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1	p.I541S	ENST00000370927.1	37	c.1622	CCDS14626.1	X	.	.	.	.	.	.	.	.	.	.	A	20.4	3.978535	0.74360	.	.	ENSG00000165675	ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.64249	0.2581	M	0.74881	2.28	0.51482	D	0.999925	P;P	0.51653	0.899;0.947	P;P	0.50934	0.504;0.654	T	0.66779	-0.5837	8	.	.	.	-12.1703	9.705	0.40209	1.0:0.0:0.0:0.0	.	541;569	Q16206;A4QPE1	ENOX2_HUMAN;.	S	512;541;512;569;541	.	.	I	-	2	0	ENOX2	129589692	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.148000	0.89630	1.814000	0.52955	0.486000	0.48141	ATC	-	NULL		0.423	ENOX2-004	KNOWN	basic|CCDS	protein_coding	ENOX2	protein_coding	OTTHUMT00000058277.1	A	NM_182314		129589692	-1	no_errors	NM_182314	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
LAMC3	10319	genome.wustl.edu	37	9	133914434	133914434	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr9:133914434C>T	ENST00000361069.4	+	5	1293	c.1160C>T	c.(1159-1161)tCg>tTg	p.S387L	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	387	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GACTGCCAGTCGGCAGGTGAG	0.627																																																0			9											44.0	44.0	44.0					9																	133914434		2203	4300	6503	132904255	SO:0001583	missense	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1160C>T	9.37:g.133914434C>T	ENSP00000354360:p.Ser387Leu		132904255	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	HMMSmart_LamNT,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMPfam_Laminin_B,PatternScan_EGF_2	p.S387L	ENST00000361069.4	37	c.1160	CCDS6938.1	9	.	.	.	.	.	.	.	.	.	.	C	9.652	1.141912	0.21205	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.61392	0.11	4.83	2.9	0.33743	EGF-like, laminin (3);	0.457648	0.25469	N	0.030450	T	0.43233	0.1238	L	0.31207	0.915	0.25346	N	0.988905	B	0.14012	0.009	B	0.13407	0.009	T	0.39603	-0.9606	10	0.66056	D	0.02	.	9.1526	0.36973	0.0:0.8085:0.0:0.1915	.	387	Q9Y6N6	LAMC3_HUMAN	L	387	ENSP00000354360:S387L	ENSP00000325873:S387L	S	+	2	0	LAMC3	132904255	0.002000	0.14202	0.351000	0.25721	0.005000	0.04900	1.269000	0.33074	0.476000	0.27440	-0.148000	0.13756	TCG	-	HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196		0.627	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	protein_coding	OTTHUMT00000054717.3	C	NM_006059		132904255	+1	no_errors	NM_006059	genbank	human	reviewed	54_36p	missense	SNP	0.848	T
TMEM8C	389827	genome.wustl.edu	37	9	136379775	136379775	+	Missense_Mutation	SNP	A	A	C			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr9:136379775A>C	ENST00000339996.3	-	5	750	c.649T>G	c.(649-651)Tgc>Ggc	p.C217G	TMEM8C_ENST00000413714.1_5'Flank	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	217					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						CAAGCACAGCACAGGGTGGAG	0.637																																																0			9											89.0	81.0	84.0					9																	136379775		2203	4300	6503	135369596	SO:0001583	missense	389827			BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"""transmembrane protein 226"""	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.649T>G	9.37:g.136379775A>C	ENSP00000419712:p.Cys217Gly		135369596		Missense_Mutation	SNP	NULL	p.C217G	ENST00000339996.3	37	c.649	CCDS35170.1	9	.	.	.	.	.	.	.	.	.	.	N	13.10	2.137069	0.37728	.	.	ENSG00000187616	ENST00000339996	T	0.44881	0.91	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	L	0.44542	1.39	0.52501	D	0.999957	D	0.65815	0.995	D	0.72982	0.979	T	0.56703	-0.7935	10	0.72032	D	0.01	-39.2473	11.8468	0.52389	1.0:0.0:0.0:0.0	.	217	A6NI61	TMM8C_HUMAN	G	217	ENSP00000419712:C217G	ENSP00000419712:C217G	C	-	1	0	TMEM8C	135369596	1.000000	0.71417	0.126000	0.21872	0.075000	0.17131	8.584000	0.90798	1.537000	0.49254	0.326000	0.21444	TGC	-	NULL		0.637	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC389827	protein_coding	OTTHUMT00000356200.2	A	NM_001080483		135369596	-1	no_errors	NM_001080483	genbank	human	inferred	54_36p	missense	SNP	1.000	C
PDE7B	27115	genome.wustl.edu	37	6	136500269	136500269	+	Missense_Mutation	SNP	T	T	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr6:136500269T>A	ENST00000308191.6	+	10	1241	c.938T>A	c.(937-939)tTt>tAt	p.F313Y	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	313	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GACAGGCACTTTATGCTTCAG	0.448																																																0			6											121.0	110.0	114.0					6																	136500269		2203	4300	6503	136541962	SO:0001583	missense	27115			AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"""Phosphodiesterases"""	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.938T>A	6.37:g.136500269T>A	ENSP00000310661:p.Phe313Tyr		136541962	Q5W154	Missense_Mutation	SNP	superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I	p.F313Y	ENST00000308191.6	37	c.938	CCDS5175.1	6	.	.	.	.	.	.	.	.	.	.	T	28.6	4.938321	0.92526	.	.	ENSG00000171408	ENST00000308191;ENST00000367787	T	0.76839	-1.05	5.73	5.73	0.89815	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.051690	0.85682	D	0.000000	T	0.81211	0.4775	L	0.45744	1.44	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.975	T	0.82542	-0.0405	10	0.51188	T	0.08	.	16.0067	0.80367	0.0:0.0:0.0:1.0	.	365;313	A1E5M1;Q9NP56	.;PDE7B_HUMAN	Y	313;449	ENSP00000310661:F313Y	ENSP00000310661:F313Y	F	+	2	0	PDE7B	136541962	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.040000	0.89188	2.187000	0.69744	0.402000	0.26972	TTT	-	superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I		0.448	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE7B	protein_coding	OTTHUMT00000042371.1	T			136541962	+1	no_errors	NM_018945	genbank	human	validated	54_36p	missense	SNP	1.000	A
FMR1	2332	genome.wustl.edu	37	X	147030282	147030282	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chrX:147030282G>A	ENST00000370475.4	+	17	1945	c.1817G>A	c.(1816-1818)cGc>cAc	p.R606H	FMR1_ENST00000370471.3_Missense_Mutation_p.A516T|FMR1_ENST00000370470.1_Missense_Mutation_p.R564H|FMR1_ENST00000218200.8_Missense_Mutation_p.R585H|FMR1_ENST00000439526.2_Missense_Mutation_p.R566H|FMR1_ENST00000370477.1_Missense_Mutation_p.R556H|FMR1_ENST00000440235.2_Missense_Mutation_p.R236H|FMR1-IT1_ENST00000441414.1_RNA	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	606	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCGGCTGCGCACGGGTAAA	0.433									Fragile X syndrome																																							0			X											131.0	111.0	118.0					X																	147030282		2203	4300	6503	146837974	SO:0001583	missense	2332	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1817G>A	X.37:g.147030282G>A	ENSP00000359506:p.Arg606His		146837974	A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	HMMPfam_Agenet,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1	p.R606H	ENST00000370475.4	37	c.1817	CCDS14682.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.3|28.3	4.906801|4.906801	0.92107|0.92107	.|.	.|.	ENSG00000102081|ENSG00000102081	ENST00000370471|ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235	T|T;T;T;T;T;T	0.59083|0.60672	0.29|0.22;1.05;0.17;1.01;0.9;1.25	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64371|0.64371	0.2592|0.2592	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|D;P;D;D;D	.|0.89917	.|1.0;0.53;1.0;1.0;1.0	.|D;B;D;D;D	.|0.83275	.|0.996;0.111;0.964;0.952;0.996	T|T	0.65701|0.65701	-0.6104|-0.6104	7|10	0.87932|0.42905	D|T	0|0.14	-20.0256|-20.0256	17.7573|17.7573	0.88453|0.88453	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|236;606;501;560;566	.|F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0	.|.;FMR1_HUMAN;.;.;.	T|H	516|585;556;606;566;564;236	ENSP00000359502:A516T|ENSP00000218200:R585H;ENSP00000359508:R556H;ENSP00000359506:R606H;ENSP00000395923:R566H;ENSP00000359501:R564H;ENSP00000413764:R236H	ENSP00000359502:A516T|ENSP00000218200:R585H	A|R	+|+	1|2	0|0	FMR1|FMR1	146837974|146837974	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.686000|7.686000	0.84128|0.84128	2.499000|2.499000	0.84300|0.84300	0.594000|0.594000	0.82650|0.82650	GCA|CGC	-	NULL		0.433	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1	protein_coding	OTTHUMT00000058655.1	G	NM_002024		146837974	+1	no_errors	NM_002024	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SSPO	23145	genome.wustl.edu	37	7	149518041	149518041	+	RNA	SNP	C	C	T	rs117930273	byFrequency	TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr7:149518041C>T	ENST00000378016.2	+	0	12384							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)			ACAGCTGGGCCCCGGGGAGCC	0.677													C|||	51	0.0101837	0.0015	0.013	5008	,	,		17902	0.001		0.0368	False		,,,				2504	0.002															0			7						C		39,4121		0,39,2041	11.0	16.0	14.0		12398	3.5	1.0	7	dbSNP_132	14	387,8033		13,361,3836	yes	coding-notMod3	SSPO	NM_198455.2		13,400,5877	TT,TC,CC		4.5962,0.9375,3.3863			149518041	426,12154	2080	4210	6290	149148974			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.149518041C>T			149148974	Q76B61	Missense_Mutation	SNP	HMMSmart_SM00216,HMMPfam_VWD,superfamily_LDL receptor-like module,HMMSmart_SM00192,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,superfamily_Serine proterase inhibitors,HMMSmart_SM00214,HMMSmart_SM00215,HMMPfam_VWC,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,HMMPfam_Ldl_recept_a,PatternScan_LDLRA_1,HMMPfam_TIL,superfamily_PMP inhibitors,PatternScan_EGF_1,PatternScan_VWFC_1,PatternScan_GLYCO_HORMONE_BETA_1	p.P4133S	ENST00000378016.2	37	c.12397		7																																																																																			-	NULL		0.677	SSPO-202	KNOWN	basic	processed_transcript	SSPO	processed_transcript		C			149148974	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_198455	genbank	human	provisional	54_36p	missense	SNP	0.997	T
FLG	2312	genome.wustl.edu	37	1	152277734	152277734	+	Missense_Mutation	SNP	G	G	A	rs571141981	byFrequency	TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr1:152277734G>A	ENST00000368799.1	-	3	9663	c.9628C>T	c.(9628-9630)Cgc>Tgc	p.R3210C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3210	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCCTGGCGCCTGCTTCTC	0.557									Ichthyosis				G|||	2	0.000399361	0.0	0.0	5008	,	,		19579	0.0		0.0	False		,,,				2504	0.002															0			1											111.0	138.0	129.0					1																	152277734		2202	4280	6482	150544358	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9628C>T	1.37:g.152277734G>A	ENSP00000357789:p.Arg3210Cys		150544358	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_Filaggrin	p.R3210C	ENST00000368799.1	37	c.9628	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	9.556	1.117193	0.20795	.	.	ENSG00000143631	ENST00000368799	T	0.01725	4.67	3.37	-1.73	0.08081	.	.	.	.	.	T	0.01124	0.0037	M	0.62723	1.935	0.09310	N	1	D	0.64830	0.994	P	0.48770	0.589	T	0.46233	-0.9206	9	0.48119	T	0.1	-1.4472	4.4703	0.11708	0.1228:0.0:0.3176:0.5596	.	3210	P20930	FILA_HUMAN	C	3210	ENSP00000357789:R3210C	ENSP00000357789:R3210C	R	-	1	0	FLG	150544358	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.220000	0.02971	-0.094000	0.12374	0.449000	0.29647	CGC	-	HMMPfam_Filaggrin		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	G	NM_002016		150544358	-1	no_errors	NM_002016	genbank	human	provisional	54_36p	missense	SNP	0.000	A
TTN	7273	genome.wustl.edu	37	2	179396497	179396497	+	Missense_Mutation	SNP	G	G	A	rs576270358		TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr2:179396497G>A	ENST00000591111.1	-	308	100146	c.99922C>T	c.(99922-99924)Cgc>Tgc	p.R33308C	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25884C|TTN_ENST00000342992.6_Missense_Mutation_p.R32381C|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26076C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R34949C|TTN-AS1_ENST00000589355.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R26009C|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33308	Ig-like 146.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTGCGAGCGCATTCTCAGT	0.443													G|||	1	0.000199681	0.0	0.0014	5008	,	,		22719	0.0		0.0	False		,,,				2504	0.0															0			2											85.0	84.0	84.0					2																	179396497		2001	4164	6165	179104743	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.99922C>T	2.37:g.179396497G>A	ENSP00000465570:p.Arg33308Cys		179104743	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR	p.R30930C	ENST00000591111.1	37	c.92788		2	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242091	0.58995	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.56	5.56	0.83823	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.82204	0.4986	M	0.72479	2.2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.83543	0.0097	9	0.87932	D	0	.	19.5233	0.95194	0.0:0.0:1.0:0.0	.	25884;26009;26076;33308	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	32381;25884;26076;26009;25881	ENSP00000343764:R32381C;ENSP00000434586:R25884C;ENSP00000340554:R26076C;ENSP00000352154:R26009C	ENSP00000340554:R26076C	R	-	1	0	TTN	179104743	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.934000	0.87649	2.615000	0.88500	0.650000	0.86243	CGC	-	superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179104743	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	missense	SNP	1.000	A
OR2T12	127064	genome.wustl.edu	37	1	248458842	248458842	+	Silent	SNP	T	T	C			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr1:248458842T>C	ENST00000317996.1	-	1	38	c.39A>G	c.(37-39)ctA>ctG	p.L13L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L13L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TAAAGAGTCCTAGGAGAATAA	0.448																																																1	Substitution - coding silent(1)	lung(1)	1											77.0	78.0	78.0					1																	248458842		2203	4298	6501	246525465	SO:0001819	synonymous_variant	127064			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.39A>G	1.37:g.248458842T>C			246525465		Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.L13	ENST00000317996.1	37	c.39	CCDS31110.1	1																																																																																			-	superfamily_SSF81321		0.448	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T12	protein_coding	OTTHUMT00000097353.1	T	NM_001004692		246525465	-1	no_errors	NM_001004692	genbank	human	provisional	54_36p	silent	SNP	0.026	C
PLIN4	729359	genome.wustl.edu	37	19	4499633	4499647	+	IGR	DEL	AGCTGGCCGGGGAGG	AGCTGGCCGGGGAGG	-	rs62131000|rs72100503|rs587644307|rs34068770|rs62131001	byFrequency	TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	AGCTGGCCGGGGAGG	AGCTGGCCGGGGAGG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr19:4499633_4499647delAGCTGGCCGGGGAGG	ENST00000301286.3	-	0	6341				HDGFRP2_ENST00000586684.1_In_Frame_Del_p.LAGEE585del|HDGFRP2_ENST00000301284.4_In_Frame_Del_p.LAGEE585del	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4							cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						gccgaggagaagctggccggggaggagctggccgg	0.679														2593	0.517772	0.5091	0.4971	5008	,	,		9107	0.5476		0.5209	False		,,,				2504	0.5102															0			19							,	2387,77		1193,1,38					,	3.1	0.0		dbSNP_130	25	5941,203		2952,37,83	no	coding,coding	HDGFRP2	NM_032631.2,NM_001001520.1	,	4145,38,121	A1A1,A1R,RR		3.304,3.125,3.2528	,	,		8328,280				4450647	SO:0001628	intergenic_variant	84717			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571		19.37:g.4499633_4499647delAGCTGGCCGGGGAGG			4450633	A6NEI2	In_Frame_Del	DEL	superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293	p.EELAG578in_frame_del	ENST00000301286.3	37	c.1721_1735	CCDS45927.1	19																																																																																			(deletion:cds_exon[4450488,4450716])	NULL		0.679	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	HDGF2	protein_coding	OTTHUMT00000395095.1	AGCTGGCCGGGGAGG	XM_170901		4450647	+1	no_errors	NM_001001520	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.738:0.694:0.651:0.608:0.566:0.525:0.484:0.443:0.404:0.364:0.325:0.287:0.249:0.211:0.173	-
CDK12	51755	genome.wustl.edu	37	17	37619352	37619384	+	Splice_Site	DEL	GTCGGAGTCCACTCCCCAGGTGAGCTATTTGTC	GTCGGAGTCCACTCCCCAGGTGAGCTATTTGTC	-	rs372721785		TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	GTCGGAGTCCACTCCCCAGGTGAGCTATTTGTC	GTCGGAGTCCACTCCCCAGGTGAGCTATTTGTC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr17:37619352_37619384delGTCGGAGTCCACTCCCCAGGTGAGCTATTTGTC	ENST00000447079.4	+	1	1061_1079	c.1028_1046delGTCGGAGTCCACTCCCCAGGTGAGCTATTTGTC	c.(1027-1047)agtcggagtccactccccagg>ag	p.SRSPLPR343del	CDK12_ENST00000430627.2_Splice_Site_p.SRSPLPR343del	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	343					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CGGTCTCTGAGTCGGAGTCCACTCCCCAGGTGAGCTATTTGTCTAACAGTCCT	0.536			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0			17																																								34872910	SO:0001630	splice_region_variant	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1046+1GTCGGAGTCCACTCCCCAGGTGAGCTATTTGTC>-	17.37:g.37619352_37619384delGTCGGAGTCCACTCCCCAGGTGAGCTATTTGTC			34872878	A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Del	DEL	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.S343fs	ENST00000447079.4	37	c.1028_1046	CCDS11337.1	17																																																																																			(deletion:cds_exon[34871851,34872896], intron[34872897,34880657])	NULL		0.536	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRKRS	protein_coding	OTTHUMT00000256941.4	GTCGGAGTCCACTCCCCAGGTGAGCTATTTGTC	NM_016507	In_Frame_Del	34872910	+1	no_errors	NM_016507	genbank	human	validated	54_36p	frame_shift_del	DEL	1.000:0.994:1.000:1.000:1.000:1.000:1.000:0.998:1.000:0.990:0.034:0.033:0.016:0.007:0.063:0.894:0.996:1.000:1.000	-
CEP164	22897	genome.wustl.edu	37	11	117252486	117252487	+	Frame_Shift_Ins	INS	-	-	C	rs114396665	byFrequency	TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr11:117252486_117252487insC	ENST00000278935.3	+	13	1626_1627	c.1479_1480insC	c.(1480-1482)cctfs	p.P494fs	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	494	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.P495fs*43(2)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CTGAAGAAGAGCCTCCCCAGGG	0.668																																																2	Insertion - Frameshift(2)	breast(2)	11																																								116757697	SO:0001589	frameshift_variant	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1481dupC	11.37:g.117252488_117252488dupC	ENSP00000278935:p.Pro494fs		116757696	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Frame_Shift_Ins	INS	superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW	p.P494fs	ENST00000278935.3	37	c.1479_1480	CCDS31683.1	11																																																																																			-	NULL		0.668	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	protein_coding	OTTHUMT00000392893.1	-	NM_014956		116757697	+1	no_errors	NM_014956	genbank	human	validated	54_36p	frame_shift_ins	INS	0.077:0.074	C
GLUD2	2747	genome.wustl.edu	37	X	120182075	120182078	+	Frame_Shift_Del	DEL	TGGG	TGGG	-			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	TGGG	TGGG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chrX:120182075_120182078delTGGG	ENST00000328078.1	+	1	614_617	c.537_540delTGGG	c.(535-540)tttgggfs	p.FG179fs		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	179					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						ATGTGCCGTTTGGGGGTGCTAAAG	0.451																																																0			X																																								120009759	SO:0001589	frameshift_variant	2747			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.537_540delTGGG	X.37:g.120182075_120182078delTGGG	ENSP00000327589:p.Phe179fs		120009756	B2R8G0|Q9UDQ4	Frame_Shift_Del	DEL	superfamily_SSF53223,HMMPfam_ELFV_dehydrog_N,PatternScan_GLFV_DEHYDROGENASE,HMMPfam_ELFV_dehydrog,superfamily_NAD(P)-bd	p.F179fs	ENST00000328078.1	37	c.537_540	CCDS14603.1	X																																																																																			(deletion:cds_exon[120009220,120010896])	superfamily_SSF53223,HMMPfam_ELFV_dehydrog_N,PatternScan_GLFV_DEHYDROGENASE		0.451	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD2	protein_coding	OTTHUMT00000058133.1	TGGG	NM_012084		120009759	+1	no_errors	NM_012084	genbank	human	validated	54_36p	frame_shift_del	DEL	0.999:1.000:1.000:0.996	-
GRM6	2916	genome.wustl.edu	37	5	178419279	178419280	+	Intron	INS	-	-	GGCAAGGTCT	rs11283410|rs34573509	byFrequency	TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr5:178419279_178419280insGGCAAGGTCT	ENST00000517717.1	-	3	543				RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Intron|GRM6_ENST00000519175.1_5'Flank			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGGAAGCTGTGGTGTTTTGCGA	0.604														4588	0.916134	0.7481	0.9769	5008	,	,		18715	0.9792		0.9791	False		,,,				2504	0.9703															0			5																																								178351886	SO:0001627	intron_variant	2916			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.505-195->AGACCTTGCC	5.37:g.178419279_178419280insGGCAAGGTCT			178351885		Frame_Shift_Ins	INS	HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3	p.H51fs	ENST00000517717.1	37	c.154_153	CCDS4442.1	5																																																																																			-	NULL		0.604	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	protein_coding	OTTHUMT00000253474.2	-			178351886	-1	no_stop_codon	ENST00000319065	ensembl	human	known	54_36p	frame_shift_ins	INS	0.003:0.016	GGCAAGGTCT
