#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCA13	154664	genome.wustl.edu	37	7	48431550	48431550	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr7:48431550C>T	ENST00000435803.1	+	38	11711	c.11687C>T	c.(11686-11688)tCt>tTt	p.S3896F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3896	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCTCCCACTTCTGGAACCATC	0.517																																																	0													80.0	80.0	80.0					7																	48431550		1997	4167	6164	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11687C>T	7.37:g.48431550C>T	ENSP00000411096:p.Ser3896Phe		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S3896F	ENST00000435803.1	37	c.11687	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585651	0.46110	.	.	ENSG00000179869	ENST00000435803	D	0.94828	-3.53	4.95	4.95	0.65309	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.40064	U	0.001187	D	0.97942	0.9323	H	0.94542	3.55	0.40865	D	0.983867	D;D	0.89917	1.0;0.999	D;D	0.91635	0.994;0.999	D	0.99813	1.1042	10	0.87932	D	0	.	14.9026	0.70692	0.0:1.0:0.0:0.0	.	1598;3896	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	F	3896	ENSP00000411096:S3896F	ENSP00000411096:S3896F	S	+	2	0	ABCA13	48402096	0.994000	0.37717	0.327000	0.25402	0.464000	0.32679	3.817000	0.55668	2.296000	0.77279	0.467000	0.42956	TCT	ABCA13	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.517	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48431550	+1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	0.391	T
ABCC9	10060	genome.wustl.edu	37	12	22061143	22061143	+	Silent	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr12:22061143G>A	ENST00000261201.4	-	9	1322	c.1323C>T	c.(1321-1323)atC>atT	p.I441I	ABCC9_ENST00000345162.2_Silent_p.I441I|ABCC9_ENST00000261200.4_Silent_p.I441I	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	441	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CGCCCATTATGATCTAGAGAG	0.388																																																	0													50.0	47.0	48.0					12																	22061143		2203	4299	6502	SO:0001819	synonymous_variant	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1323C>T	12.37:g.22061143G>A			O60707	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.I441	ENST00000261201.4	37	c.1323	CCDS8694.1	12																																																																																			ABCC9	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.388	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	G	NM_005691		22061143	-1	no_errors	ENST00000261200	ensembl	human	known	70_37	silent	SNP	1.000	A
ABCG2	9429	genome.wustl.edu	37	4	89013433	89013433	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr4:89013433G>A	ENST00000237612.3	-	16	2466	c.1921C>T	c.(1921-1923)Ctc>Ttc	p.L641F	ABCG2_ENST00000515655.1_3'UTR	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	641	ABC transmembrane type-2.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GCAATTGTGAGGAAAATAACA	0.368																																																	0													89.0	85.0	87.0					4																	89013433		2203	4300	6503	SO:0001583	missense	9429			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1921C>T	4.37:g.89013433G>A	ENSP00000237612:p.Leu641Phe		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L641F	ENST00000237612.3	37	c.1921	CCDS3628.1	4	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116142	0.77323	.	.	ENSG00000118777	ENST00000237612	D	0.86497	-2.13	5.55	5.55	0.83447	.	0.057248	0.64402	D	0.000001	D	0.91971	0.7457	M	0.88704	2.975	0.80722	D	1	B	0.28636	0.218	B	0.40134	0.32	D	0.90585	0.4532	10	0.45353	T	0.12	-18.1443	19.1246	0.93376	0.0:0.0:1.0:0.0	.	641	Q9UNQ0	ABCG2_HUMAN	F	641	ENSP00000237612:L641F	ENSP00000237612:L641F	L	-	1	0	ABCG2	89232457	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.486000	0.73629	2.604000	0.88044	0.467000	0.42956	CTC	ABCG2	-	NULL		0.368	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG2	HGNC	protein_coding	OTTHUMT00000253051.1	G	NM_004827		89013433	-1	no_errors	ENST00000237612	ensembl	human	known	70_37	missense	SNP	1.000	A
ABHD15	116236	genome.wustl.edu	37	17	27893279	27893279	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:27893279C>G	ENST00000307201.4	-	1	876	c.706G>C	c.(706-708)Gaa>Caa	p.E236Q	RP11-68I3.2_ENST00000581474.1_RNA|TP53I13_ENST00000301057.7_5'Flank	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	236						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCCGAGCCTTCGCTCACCGCG	0.716																																																	0													13.0	16.0	15.0					17																	27893279		2188	4279	6467	SO:0001583	missense	116236			AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"""Abhydrolase domain containing"""	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.706G>C	17.37:g.27893279C>G	ENSP00000302657:p.Glu236Gln		Q96EC5	Missense_Mutation	SNP	pirsf_AB-Hydro_YheT	p.E236Q	ENST00000307201.4	37	c.706	CCDS32602.1	17	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880764	0.91740	.	.	ENSG00000168792	ENST00000307201	T	0.66280	-0.2	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.75975	0.3923	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.77384	-0.2608	10	0.52906	T	0.07	-4.8692	16.4884	0.84191	0.0:1.0:0.0:0.0	.	236	Q6UXT9	ABH15_HUMAN	Q	236	ENSP00000302657:E236Q	ENSP00000302657:E236Q	E	-	1	0	ABHD15	24917405	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.378000	0.66190	2.444000	0.82710	0.655000	0.94253	GAA	ABHD15	-	pirsf_AB-Hydro_YheT		0.716	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD15	HGNC	protein_coding	OTTHUMT00000447796.2	C	NM_198147		27893279	-1	no_errors	ENST00000307201	ensembl	human	known	70_37	missense	SNP	1.000	G
AOC1	26	genome.wustl.edu	37	7	150554780	150554780	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr7:150554780G>A	ENST00000493429.1	+	4	1806	c.1222G>A	c.(1222-1224)Gac>Aac	p.D408N	AOC1_ENST00000360937.4_Missense_Mutation_p.D408N|AOC1_ENST00000416793.2_Missense_Mutation_p.D408N|AOC1_ENST00000467291.1_Missense_Mutation_p.D408N			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	408					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	TGATGCCGATGACCCGGTCCA	0.587																																																	0													55.0	62.0	60.0					7																	150554780		2052	4201	6253	SO:0001583	missense	26			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1222G>A	7.37:g.150554780G>A	ENSP00000418614:p.Asp408Asn		C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.D408N	ENST00000493429.1	37	c.1222	CCDS43679.1	7	.	.	.	.	.	.	.	.	.	.	G	7.135	0.580615	0.13686	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.03745	3.82;3.82;3.82;3.82	5.49	5.49	0.81192	Copper amine oxidase, C-terminal (3);	0.712373	0.14150	N	0.338075	T	0.02649	0.0080	N	0.05383	-0.06	0.09310	N	0.999994	B;B	0.25390	0.125;0.0	B;B	0.29942	0.109;0.003	T	0.49753	-0.8906	10	0.20519	T	0.43	-16.1871	10.6353	0.45560	0.0875:0.0:0.9125:0.0	.	408;408	C9J690;P19801	.;ABP1_HUMAN	N	408;408;408;408;284	ENSP00000418614:D408N;ENSP00000418328:D408N;ENSP00000354193:D408N;ENSP00000411613:D408N	ENSP00000354193:D408N	D	+	1	0	ABP1	150185713	0.034000	0.19679	0.009000	0.14445	0.039000	0.13416	2.566000	0.45948	2.735000	0.93741	0.561000	0.74099	GAC	ABP1	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C		0.587	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABP1	HGNC	protein_coding	OTTHUMT00000350628.1	G	NM_001091		150554780	+1	no_errors	ENST00000416793	ensembl	human	known	70_37	missense	SNP	0.347	A
ACACA	31	genome.wustl.edu	37	17	35656239	35656239	+	Intron	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:35656239C>T	ENST00000394406.2	-	4	418				ACACA_ENST00000353139.5_Intron|ACACA_ENST00000335166.5_5'UTR|ACACA_ENST00000416895.1_Intron|ACACA_ENST00000360679.3_Missense_Mutation_p.E7K	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha						acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCCTTATTTTCCTCTGGAGAA	0.388																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													85.0	85.0	85.0					17																	35656239		2203	4300	6503	SO:0001627	intron_variant	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.228-14368G>A	17.37:g.35656239C>T			B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.E7K	ENST00000394406.2	37	c.19	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	C	3.773	-0.047178	0.07407	.	.	ENSG00000132142	ENST00000360679	D	0.95001	-3.58	5.48	0.851	0.18989	.	.	.	.	.	D	0.83138	0.5189	.	.	.	0.28740	N	0.902047	B	0.15473	0.013	B	0.14023	0.01	T	0.71073	-0.4698	8	0.05525	T	0.97	.	6.1524	0.20318	0.0:0.4324:0.4051:0.1625	.	7	Q13085-2	.	K	7	ENSP00000353898:E7K	ENSP00000353898:E7K	E	-	1	0	ACACA	32730352	0.900000	0.30661	0.020000	0.16555	0.931000	0.56810	0.011000	0.13264	0.236000	0.21180	0.467000	0.42956	GAA	ACACA	-	NULL		0.388	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	C	NM_198836		35656239	-1	no_errors	ENST00000360679	ensembl	human	known	70_37	missense	SNP	0.486	T
ADAM7	8756	genome.wustl.edu	37	8	24299985	24299985	+	Splice_Site	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:24299985G>A	ENST00000175238.6	+	2	135		c.e2-1		RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Splice_Site|ADAM7_ENST00000380789.1_Splice_Site	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTTCCTCGTAGAAAAGTTCAT	0.418																																																	0													195.0	192.0	193.0					8																	24299985		2203	4300	6503	SO:0001630	splice_region_variant	8756			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.53-1G>A	8.37:g.24299985G>A			A8K8X7|O75959|Q6PEJ6	Splice_Site	SNP	-	e2-1	ENST00000175238.6	37	c.53-1	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753461	0.31046	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.405	0.55434	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM7	24355930	0.997000	0.39634	0.468000	0.27192	0.063000	0.16089	4.005000	0.57075	2.652000	0.90054	0.557000	0.71058	.	ADAM7	-	-		0.418	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	G	NM_003817	Intron	24299985	+1	no_errors	ENST00000175238	ensembl	human	known	70_37	splice_site	SNP	0.571	A
ADH4	127	genome.wustl.edu	37	4	100047843	100047843	+	Silent	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr4:100047843G>A	ENST00000265512.7	-	8	1094	c.1020C>T	c.(1018-1020)gaC>gaT	p.D340D	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000423445.1_Silent_p.D359D|ADH4_ENST00000505590.1_Silent_p.D359D|ADH4_ENST00000508393.1_Silent_p.D359D	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	340					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		TATTCTTATAGTCAGTGACCA	0.388																																																	0													117.0	115.0	116.0					4																	100047843		2203	4300	6503	SO:0001819	synonymous_variant	127			M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.1020C>T	4.37:g.100047843G>A			A8K470|B4DIE7|C9J4A9|Q8TCD7	Silent	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.D359	ENST00000265512.7	37	c.1077	CCDS34032.1	4																																																																																			ADH4	-	superfamily_GroES-like,smart_PKS_ER		0.388	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH4	HGNC	protein_coding	OTTHUMT00000364220.2	G	NM_000670		100047843	-1	no_errors	ENST00000423445	ensembl	human	known	70_37	silent	SNP	0.991	A
AK9	221264	genome.wustl.edu	37	6	109931705	109931705	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr6:109931705C>T	ENST00000424296.2	-	17	1781	c.1705G>A	c.(1705-1707)Gac>Aac	p.D569N	AK9_ENST00000368948.2_Missense_Mutation_p.D569N|AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	569					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TCTATCAAGTCTTCTGTTGGG	0.328																																																	0													142.0	115.0	123.0					6																	109931705		692	1591	2283	SO:0001583	missense	221264			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.1705G>A	6.37:g.109931705C>T	ENSP00000410186:p.Asp569Asn		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.D569N	ENST00000424296.2	37	c.1705	CCDS55048.1	6	.	.	.	.	.	.	.	.	.	.	C	6.588	0.476806	0.12521	.	.	ENSG00000155085	ENST00000424296;ENST00000368948	T;T	0.64991	-0.1;-0.13	4.55	2.58	0.30949	.	1.121610	0.06711	N	0.773159	T	0.23532	0.0569	N	0.24115	0.695	0.09310	N	0.999993	B	0.33694	0.421	B	0.22152	0.038	T	0.06881	-1.0802	9	.	.	.	-1.7884	9.125	0.36810	0.4221:0.5779:0.0:0.0	.	569	Q5TCS8	AKD1_HUMAN	N	569	ENSP00000410186:D569N;ENSP00000357944:D569N	.	D	-	1	0	AKD1	110038398	0.735000	0.28153	0.030000	0.17652	0.081000	0.17604	1.915000	0.39976	1.246000	0.43901	0.650000	0.86243	GAC	AKD1	-	NULL		0.328	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		C	NM_001145128		109931705	-1	no_errors	ENST00000424296	ensembl	human	known	70_37	missense	SNP	0.023	T
AKAP7	9465	genome.wustl.edu	37	6	131602687	131602687	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr6:131602687G>C	ENST00000431975.2	+	8	966	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	AKAP7_ENST00000263050.3_Missense_Mutation_p.E26Q|AKAP7_ENST00000368123.4_Missense_Mutation_p.E268Q|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000474850.2_Missense_Mutation_p.E46Q|AKAP7_ENST00000342266.4_Missense_Mutation_p.E23Q|AKAP7_ENST00000537868.1_Intron	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	290						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GAACGGAGGGGAGCCCGATGA	0.502																																																	0													59.0	60.0	60.0					6																	131602687		2203	4300	6503	SO:0001583	missense	9465			AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.868G>C	6.37:g.131602687G>C	ENSP00000405252:p.Glu290Gln		B4DUC3|Q9HCZ8	Missense_Mutation	SNP	pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase	p.E268Q	ENST00000431975.2	37	c.802	CCDS5142.2	6	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575721	0.65878	.	.	ENSG00000118507	ENST00000431975;ENST00000368123;ENST00000263050;ENST00000342266;ENST00000474850	T;T	0.37584	1.19;1.2	5.97	5.09	0.68999	Protein kinase A anchor protein, RI-RII subunit-binding domain (2);	0.308380	0.33753	N	0.004586	T	0.22044	0.0531	L	0.29908	0.895	0.42764	D	0.993815	B;B;P	0.48407	0.053;0.284;0.91	B;B;P	0.45071	0.071;0.109;0.468	T	0.03945	-1.0990	10	0.66056	D	0.02	-7.1172	16.2072	0.82135	0.0:0.1332:0.8668:0.0	.	23;46;290	Q2TAJ5;O43687;Q9P0M2	.;AKA7A_HUMAN;AKA7G_HUMAN	Q	290;268;26;23;46	ENSP00000405252:E290Q;ENSP00000357105:E268Q	ENSP00000263050:E26Q	E	+	1	0	AKAP7	131644380	1.000000	0.71417	0.995000	0.50966	0.963000	0.63663	5.779000	0.68948	1.503000	0.48686	0.655000	0.94253	GAG	AKAP7	-	pfam_Kinase-A_anchor_RI-RII-bd_dom		0.502	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AKAP7	HGNC	protein_coding	OTTHUMT00000042209.2	G	NM_004842		131602687	+1	no_errors	ENST00000368123	ensembl	human	known	70_37	missense	SNP	1.000	C
ANO5	203859	genome.wustl.edu	37	11	22257799	22257799	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:22257799T>C	ENST00000324559.8	+	8	1056	c.739T>C	c.(739-741)Tca>Cca	p.S247P		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	247					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAACACTTACTCATCTGCCTA	0.393																																																	0													149.0	127.0	135.0					11																	22257799		2203	4300	6503	SO:0001583	missense	203859			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.739T>C	11.37:g.22257799T>C	ENSP00000315371:p.Ser247Pro			Missense_Mutation	SNP	pfam_Anoctamin	p.S247P	ENST00000324559.8	37	c.739	CCDS31444.1	11	.	.	.	.	.	.	.	.	.	.	T	9.978	1.227431	0.22542	.	.	ENSG00000171714	ENST00000324559	T	0.67698	-0.28	5.64	3.09	0.35607	.	0.533803	0.21353	N	0.075925	T	0.69993	0.3173	M	0.81497	2.545	0.09310	N	1	P	0.45474	0.859	P	0.46543	0.52	T	0.61247	-0.7101	10	0.31617	T	0.26	.	10.75	0.46203	0.3519:0.0:0.0:0.6481	.	247	Q75V66	ANO5_HUMAN	P	247	ENSP00000315371:S247P	ENSP00000315371:S247P	S	+	1	0	ANO5	22214375	0.067000	0.21026	0.198000	0.23420	0.335000	0.28730	1.067000	0.30616	1.018000	0.39521	0.455000	0.32223	TCA	ANO5	-	NULL		0.393	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	HGNC	protein_coding	OTTHUMT00000387615.1	T	NM_213599		22257799	+1	no_errors	ENST00000324559	ensembl	human	known	70_37	missense	SNP	0.014	C
API5	8539	genome.wustl.edu	37	11	43350418	43350418	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:43350418G>A	ENST00000531273.1	+	9	1241	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	Y_RNA_ENST00000516843.1_RNA|API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Missense_Mutation_p.E357K|API5_ENST00000420461.2_Missense_Mutation_p.E314K|API5_ENST00000378852.3_Missense_Mutation_p.E368K|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000534600.1_Missense_Mutation_p.E368K			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	368					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						ACTGAATGCAGAAAAGCTCAA	0.408																																					Pancreas(1;98 122 5625 20895 49453)												0													68.0	64.0	65.0					11																	43350418		2203	4300	6503	SO:0001583	missense	8539			U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.1102G>A	11.37:g.43350418G>A	ENSP00000431391:p.Glu368Lys		B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	pfam_API5,superfamily_ARM-type_fold	p.E368K	ENST00000531273.1	37	c.1102	CCDS44572.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.579355	0.96565	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600;ENST00000526394	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.77	5.77	0.91146	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53965	0.1829	L	0.52126	1.63	0.80722	D	1	D;D;D;P;P	0.65815	0.99;0.961;0.995;0.952;0.902	P;P;D;P;P	0.64506	0.87;0.764;0.926;0.652;0.52	T	0.29181	-1.0020	10	0.27082	T	0.32	-11.9011	19.973	0.97292	0.0:0.0:1.0:0.0	.	314;368;357;368;368	B4DGR0;Q9BZZ5;B4E283;G3V1C3;Q9BZZ5-2	.;API5_HUMAN;.;.;.	K	357;368;314;368;368;183	ENSP00000399341:E357K;ENSP00000431391:E368K;ENSP00000402540:E314K;ENSP00000368129:E368K;ENSP00000434462:E368K;ENSP00000436436:E183K	ENSP00000368129:E368K	E	+	1	0	API5	43306994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GAA	API5	-	pfam_API5,superfamily_ARM-type_fold		0.408	API5-002	KNOWN	basic|CCDS	protein_coding	API5	HGNC	protein_coding	OTTHUMT00000389545.1	G	NM_006595		43350418	+1	no_errors	ENST00000531273	ensembl	human	known	70_37	missense	SNP	1.000	A
ANAPC15	25906	genome.wustl.edu	37	11	71821638	71821638	+	Silent	SNP	G	G	A	rs539199138		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:71821638G>A	ENST00000227618.4	-	4	357	c.132C>T	c.(130-132)atC>atT	p.I44I	ANAPC15_ENST00000538393.1_Silent_p.I44I|ANAPC15_ENST00000545680.1_Silent_p.I44I|LRTOMT_ENST00000307198.7_3'UTR|ANAPC15_ENST00000542531.1_Silent_p.I44I|ANAPC15_ENST00000535234.1_Silent_p.I44I|ANAPC15_ENST00000543015.1_5'Flank|ANAPC15_ENST00000502597.2_5'UTR|ANAPC15_ENST00000538919.1_Silent_p.I44I|LRTOMT_ENST00000419228.1_3'UTR|LRTOMT_ENST00000435085.1_3'UTR|ANAPC15_ENST00000535503.1_Silent_p.I44I|ANAPC15_ENST00000545944.1_Silent_p.I44I|ANAPC15_ENST00000543050.1_Silent_p.I44I|ANAPC15_ENST00000543587.1_Silent_p.I44I	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1	P60006	APC15_HUMAN	anaphase promoting complex subunit 15	44					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	anaphase-promoting complex (GO:0005680)|intracellular (GO:0005622)											CTTTCTCCGCGATGCTTTGGA	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		18865	0.0		0.0	False		,,,				2504	0.001																0													108.0	95.0	99.0					11																	71821638		2200	4293	6493	SO:0001819	synonymous_variant	25906			AL080071	CCDS8210.1, CCDS60880.1	11q13.4	2012-10-17	2012-05-31	2012-05-31	ENSG00000110200	ENSG00000110200		"""Anaphase promoting complex subunits"""	24531	protein-coding gene	gene with protein product		614717	"""chromosome 11 open reading frame 51"""	C11orf51		21926987	Standard	NM_014042		Approved	HSPC020, DKFZP564M082, APC15	uc001orw.3	P60006	OTTHUMG00000167865	ENST00000227618.4:c.132C>T	11.37:g.71821638G>A			G3V1Q3|Q9CXK2|Q9Y269	Silent	SNP	NULL	p.I44	ENST00000227618.4	37	c.132	CCDS8210.1	11																																																																																			ANAPC15	-	NULL		0.612	ANAPC15-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANAPC15	HGNC	protein_coding	OTTHUMT00000396695.1	G	NM_014042		71821638	-1	no_errors	ENST00000227618	ensembl	human	known	70_37	silent	SNP	0.748	A
ARHGEF6	9459	genome.wustl.edu	37	X	135762923	135762923	+	Silent	SNP	G	G	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:135762923G>T	ENST00000250617.6	-	15	2876	c.1671C>A	c.(1669-1671)tcC>tcA	p.S557S	ARHGEF6_ENST00000370620.1_Silent_p.S403S|ARHGEF6_ENST00000535227.1_Silent_p.S430S|ARHGEF6_ENST00000370622.1_Silent_p.S403S	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	557					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ATGAGGTTTTGGATAATGAAC	0.458																																																	0													245.0	184.0	205.0					X																	135762923		2203	4300	6503	SO:0001819	synonymous_variant	9459			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1671C>A	X.37:g.135762923G>T			A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Silent	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin	p.S557	ENST00000250617.6	37	c.1671	CCDS14660.1	X																																																																																			ARHGEF6	-	NULL		0.458	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF6	HGNC	protein_coding	OTTHUMT00000058511.2	G	NM_004840		135762923	-1	no_errors	ENST00000250617	ensembl	human	known	70_37	silent	SNP	0.945	T
ATP11C	286410	genome.wustl.edu	37	X	139014191	139014191	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:139014191C>T	ENST00000370557.1	-	1	1038	c.11G>A	c.(10-12)cGg>cAg	p.R4Q				Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	0					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATTCAAGCTCCGGCGGAACAT	0.647																																																	0													4.0	4.0	4.0					X																	139014191		804	1836	2640	SO:0001583	missense	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000370557.1:c.11G>A	X.37:g.139014191C>T	ENSP00000359588:p.Arg4Gln		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.R4Q	ENST00000370557.1	37	c.11		X	.	.	.	.	.	.	.	.	.	.	C	12.48	1.952030	0.34471	.	.	ENSG00000101974	ENST00000370557	T	0.06449	3.3	3.33	0.512	0.16994	.	.	.	.	.	T	0.04407	0.0121	.	.	.	0.21445	N	0.999688	.	.	.	.	.	.	T	0.47381	-0.9122	6	0.22109	T	0.4	.	5.4748	0.16690	0.0:0.5805:0.0:0.4195	.	.	.	.	Q	4	ENSP00000359588:R4Q	ENSP00000359588:R4Q	R	-	2	0	ATP11C	138841857	0.977000	0.34250	0.094000	0.20943	0.364000	0.29643	0.271000	0.18626	-0.124000	0.11724	0.523000	0.50628	CGG	ATP11C	-	NULL		0.647	ATP11C-001	KNOWN	basic	protein_coding	ATP11C	HGNC	protein_coding	OTTHUMT00000058566.1	C	NM_173694		139014191	-1	no_errors	ENST00000370557	ensembl	human	known	70_37	missense	SNP	0.034	T
C14orf37	145407	genome.wustl.edu	37	14	58604809	58604809	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr14:58604809T>A	ENST00000267485.7	-	2	1462	c.1268A>T	c.(1267-1269)gAa>gTa	p.E423V	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	423						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTTGGTGGATTCCGTGAAGTC	0.433																																																	0													88.0	87.0	87.0					14																	58604809		2203	4300	6503	SO:0001583	missense	145407				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1268A>T	14.37:g.58604809T>A	ENSP00000267485:p.Glu423Val		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	NULL	p.E423V	ENST00000267485.7	37	c.1268	CCDS32089.1	14	.	.	.	.	.	.	.	.	.	.	T	11.50	1.656961	0.29425	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.18174	2.23	5.56	-1.09	0.09904	.	0.727704	0.12879	N	0.431604	T	0.09555	0.0235	L	0.41236	1.265	0.09310	N	1	B;B;B;B	0.29988	0.264;0.264;0.264;0.264	B;B;B;B	0.27715	0.05;0.082;0.05;0.05	T	0.28299	-1.0048	10	0.28530	T	0.3	-0.5967	0.4485	0.00497	0.2181:0.2683:0.1501:0.3634	.	461;423;423;423	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	V	423;461	ENSP00000267485:E423V	ENSP00000267485:E423V	E	-	2	0	C14orf37	57674562	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	0.231000	0.17872	0.137000	0.18759	0.533000	0.62120	GAA	C14orf37	-	NULL		0.433	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf37	HGNC	protein_coding	OTTHUMT00000412059.1	T	NM_001001872		58604809	-1	no_errors	ENST00000267485	ensembl	human	known	70_37	missense	SNP	0.002	A
PRKCZ	5590	genome.wustl.edu	37	1	2116535	2116535	+	3'UTR	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:2116535G>A	ENST00000400921.2	+	0	2000				RP11-181G12.2_ENST00000444529.1_RNA|RP11-181G12.2_ENST00000536678.1_RNA|RP11-181G12.2_ENST00000333854.2_RNA|C1orf86_ENST00000400919.3_3'UTR|PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta						actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	GGCTGGGCACGGCTCCGAGGG	0.652																																																	0																																										SO:0001624	3_prime_UTR_variant	199990			BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.*87G>A	1.37:g.2116535G>A			A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	RNA	SNP	-	NULL	ENST00000400921.2	37	NULL	CCDS41229.1	1																																																																																			C1orf86	-	-		0.652	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	C1orf86	HGNC	protein_coding	OTTHUMT00000098533.3	G	NM_002744		2116535	-1	no_errors	ENST00000469733	ensembl	human	known	70_37	rna	SNP	0.001	A
ERICH3	127254	genome.wustl.edu	37	1	75038714	75038714	+	Missense_Mutation	SNP	C	C	T	rs149957800	byFrequency	TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:75038714C>T	ENST00000326665.5	-	14	2898	c.2680G>A	c.(2680-2682)Gaa>Aaa	p.E894K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		894	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGTTCCCCTTCAGAAGCTGCT	0.507													c|||	8	0.00159744	0.0	0.0	5008	,	,		20619	0.001		0.0	False		,,,				2504	0.0072																0								C	LYS/GLU	0,4406		0,0,2203	246.0	243.0	244.0		2680	-0.8	0.0	1	dbSNP_134	244	1,8599	1.2+/-3.3	0,1,4299	no	missense	C1orf173	NM_001002912.4	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	894/1531	75038714	1,13005	2203	4300	6503	SO:0001583	missense	127254																														ENST00000326665.5:c.2680G>A	1.37:g.75038714C>T	ENSP00000322609:p.Glu894Lys		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.E894K	ENST00000326665.5	37	c.2680	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609551	0.46527	0.0	1.16E-4	ENSG00000178965	ENST00000326665	T	0.15139	2.45	5.37	-0.783	0.10958	.	.	.	.	.	T	0.03695	0.0105	L	0.36672	1.1	0.09310	N	1	B	0.29988	0.264	B	0.30029	0.11	T	0.43180	-0.9407	9	0.26408	T	0.33	-1.7475	5.3158	0.15854	0.0:0.2835:0.4129:0.3036	.	894	Q5RHP9	CA173_HUMAN	K	894	ENSP00000322609:E894K	ENSP00000322609:E894K	E	-	1	0	C1orf173	74811302	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.017000	0.13399	0.245000	0.21373	0.563000	0.77884	GAA	C1orf173	-	NULL		0.507	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	C			75038714	-1	no_errors	ENST00000326665	ensembl	human	known	70_37	missense	SNP	0.000	T
C9orf131	138724	genome.wustl.edu	37	9	35043829	35043829	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr9:35043829G>C	ENST00000312292.5	+	2	1250	c.1203G>C	c.(1201-1203)gaG>gaC	p.E401D	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Missense_Mutation_p.E353D|C9orf131_ENST00000354479.5_Missense_Mutation_p.E328D	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	401										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TCCAGAGAGAGAGTTCCCTGG	0.537																																																	0													75.0	85.0	81.0					9																	35043829		2203	4300	6503	SO:0001583	missense	138724			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1203G>C	9.37:g.35043829G>C	ENSP00000308279:p.Glu401Asp		A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	NULL	p.E401D	ENST00000312292.5	37	c.1203	CCDS6572.2	9	.	.	.	.	.	.	.	.	.	.	G	11.28	1.590703	0.28357	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292	T;T;T	0.15834	2.4;2.39;2.4	5.27	-1.46	0.08800	.	1.146150	0.06421	N	0.722439	T	0.12220	0.0297	L	0.55481	1.735	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.38672	-0.9650	10	0.10636	T	0.68	0.3127	1.0689	0.01617	0.2133:0.3762:0.1919:0.2186	.	401;328;353	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	D	353;328;401	ENSP00000393683:E353D;ENSP00000346472:E328D;ENSP00000308279:E401D	ENSP00000308279:E401D	E	+	3	2	C9orf131	35033829	0.000000	0.05858	0.000000	0.03702	0.450000	0.32258	-0.697000	0.05098	-0.119000	0.11830	-0.136000	0.14681	GAG	C9orf131	-	NULL		0.537	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5	G	NM_203299		35043829	+1	no_errors	ENST00000312292	ensembl	human	known	70_37	missense	SNP	0.000	C
CACNB3	784	genome.wustl.edu	37	12	49220781	49220781	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr12:49220781G>A	ENST00000301050.2	+	12	1214	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	CACNB3_ENST00000540990.1_Missense_Mutation_p.E326K|CACNB3_ENST00000547392.1_Missense_Mutation_p.E312K|CACNB3_ENST00000536187.2_Missense_Mutation_p.E338K|CACNB3_ENST00000547230.1_Missense_Mutation_p.E298K	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	339					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GATTCTGGATGAGAACCAGCT	0.622																																																	0													108.0	110.0	109.0					12																	49220781		2203	4300	6503	SO:0001583	missense	784				CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.1015G>A	12.37:g.49220781G>A	ENSP00000301050:p.Glu339Lys		A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu,prints_VDCC_L_b3su	p.E339K	ENST00000301050.2	37	c.1015	CCDS8769.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.642125	0.96704	.	.	ENSG00000167535	ENST00000540990;ENST00000536187;ENST00000547392;ENST00000301050;ENST00000547230	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	5.61	5.61	0.85477	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.044965	0.85682	D	0.000000	D	0.92185	0.7522	M	0.86028	2.79	0.80722	D	1	D;D;D;D	0.89917	0.996;0.999;1.0;1.0	D;D;D;D	0.85130	0.988;0.995;0.997;0.997	D	0.92672	0.6151	10	0.62326	D	0.03	-24.661	18.3993	0.90510	0.0:0.0:1.0:0.0	.	338;326;339;326	F5GZW7;F5H2P6;P54284;B7Z973	.;.;CACB3_HUMAN;.	K	326;338;312;339;298	ENSP00000445495:E326K;ENSP00000444160:E338K;ENSP00000446529:E312K;ENSP00000301050:E339K;ENSP00000448304:E298K	ENSP00000301050:E339K	E	+	1	0	CACNB3	47507048	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.725000	0.98778	2.656000	0.90262	0.655000	0.94253	GAG	CACNB3	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel		0.622	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNB3	HGNC	protein_coding	OTTHUMT00000408886.1	G			49220781	+1	no_errors	ENST00000301050	ensembl	human	known	70_37	missense	SNP	1.000	A
CAPN6	827	genome.wustl.edu	37	X	110494281	110494281	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:110494281C>T	ENST00000324068.1	-	8	1189	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	CAPN6_ENST00000541758.1_Missense_Mutation_p.R86H	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	341	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GTTCACATTGCGGCAGACATT	0.463																																																	0													321.0	288.0	299.0					X																	110494281		2203	4300	6503	SO:0001583	missense	827			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1022G>A	X.37:g.110494281C>T	ENSP00000317214:p.Arg341His		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R341H	ENST00000324068.1	37	c.1022	CCDS14555.1	X	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232072	0.58777	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	T;T	0.40756	1.02;2.37	5.95	4.18	0.49190	Peptidase C2, calpain, catalytic domain (3);	0.250879	0.37809	N	0.001921	T	0.37293	0.0998	L	0.33710	1.025	0.58432	D	0.999997	D	0.54964	0.969	P	0.49528	0.614	T	0.06023	-1.0850	10	0.19590	T	0.45	.	11.4967	0.50413	0.0:0.8527:0.0:0.1473	.	341	Q9Y6Q1	CAN6_HUMAN	H	341;86	ENSP00000317214:R341H;ENSP00000441736:R86H	ENSP00000317214:R341H	R	-	2	0	CAPN6	110380937	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.651000	0.61447	1.258000	0.44101	0.600000	0.82982	CGC	CAPN6	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.463	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1	C			110494281	-1	no_errors	ENST00000324068	ensembl	human	known	70_37	missense	SNP	1.000	T
CAPN9	10753	genome.wustl.edu	37	1	230921753	230921753	+	Missense_Mutation	SNP	A	A	C			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:230921753A>C	ENST00000271971.2	+	12	1621	c.1508A>C	c.(1507-1509)gAc>gCc	p.D503A	RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.D440A|CAPN9_ENST00000354537.1_Missense_Mutation_p.D477A|RP11-99J16__A.2_ENST00000412344.1_RNA|RP11-99J16__A.2_ENST00000428480.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	503	Domain III.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GTAGACATTGACCTTCCTGAG	0.458																																																	0													470.0	462.0	465.0					1																	230921753		2203	4300	6503	SO:0001583	missense	10753			AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.1508A>C	1.37:g.230921753A>C	ENSP00000271971:p.Asp503Ala		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D503A	ENST00000271971.2	37	c.1508	CCDS1586.1	1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.643979	0.29246	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.87256	-2.19;-2.23;-2.23	5.58	4.4	0.53042	.	0.327917	0.34828	N	0.003643	D	0.83216	0.5206	L	0.49699	1.58	0.51767	D	0.99993	B;B;B	0.12013	0.005;0.002;0.001	B;B;B	0.09377	0.004;0.003;0.002	T	0.81234	-0.1025	10	0.56958	D	0.05	.	12.7012	0.57034	0.8533:0.1467:0.0:0.0	.	440;477;503	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	A	503;477;440	ENSP00000271971:D503A;ENSP00000346538:D477A;ENSP00000355626:D440A	ENSP00000271971:D503A	D	+	2	0	CAPN9	228988376	1.000000	0.71417	0.915000	0.36163	0.597000	0.36814	4.011000	0.57124	2.112000	0.64535	0.533000	0.62120	GAC	CAPN9	-	NULL		0.458	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN9	HGNC	protein_coding	OTTHUMT00000092179.1	A	NM_006615		230921753	+1	no_errors	ENST00000271971	ensembl	human	known	70_37	missense	SNP	0.933	C
CCNA1	8900	genome.wustl.edu	37	13	37014270	37014270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr13:37014270C>T	ENST00000255465.4	+	6	1312	c.1048C>T	c.(1048-1050)Cag>Tag	p.Q350*	CCNA1_ENST00000418263.1_Nonsense_Mutation_p.Q349*|CCNA1_ENST00000440264.1_Nonsense_Mutation_p.Q306*|CCNA1_ENST00000449823.1_Nonsense_Mutation_p.Q306*			P78396	CCNA1_HUMAN	cyclin A1	350					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GTTTCTCCTTCAGTACTTGAG	0.453																																																	0													155.0	153.0	154.0					13																	37014270		2203	4300	6503	SO:0001587	stop_gained	8900			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1048C>T	13.37:g.37014270C>T	ENSP00000255465:p.Gln350*		B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Nonsense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.Q350*	ENST00000255465.4	37	c.1048	CCDS9357.1	13	.	.	.	.	.	.	.	.	.	.	C	41	9.016514	0.99037	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	.	.	.	5.59	5.59	0.84812	.	0.053759	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.9502	0.97197	0.0:1.0:0.0:0.0	.	.	.	.	X	306;306;349;350	.	ENSP00000255465:Q350X	Q	+	1	0	CCNA1	35912270	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	7.538000	0.82048	2.781000	0.95711	0.555000	0.69702	CAG	CCNA1	-	pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E		0.453	CCNA1-001	KNOWN	basic|CCDS	protein_coding	CCNA1	HGNC	protein_coding	OTTHUMT00000044514.2	C	NM_003914		37014270	+1	no_errors	ENST00000255465	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CDH10	1008	genome.wustl.edu	37	5	24535249	24535249	+	Silent	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr5:24535249G>A	ENST00000264463.4	-	5	1293	c.786C>T	c.(784-786)gtC>gtT	p.V262V		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	262	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGTTGTCATTGACATCTGTCA	0.478										HNSCC(23;0.051)																																							0													180.0	146.0	157.0					5																	24535249		2203	4300	6503	SO:0001819	synonymous_variant	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.786C>T	5.37:g.24535249G>A			Q9ULB3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V262	ENST00000264463.4	37	c.786	CCDS3892.1	5																																																																																			CDH10	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.478	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	G	NM_006727		24535249	-1	no_errors	ENST00000264463	ensembl	human	known	70_37	silent	SNP	1.000	A
CDHR4	389118	genome.wustl.edu	37	3	49831402	49831402	+	Silent	SNP	G	G	A	rs113873087		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:49831402G>A	ENST00000412678.2	-	11	1325	c.1317C>T	c.(1315-1317)aaC>aaT	p.N439N	CDHR4_ENST00000462108.1_5'Flank	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	439	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						GGGAGAACTCGTTGATGGGTG	0.607																																																	0													62.0	61.0	61.0					3																	49831402		692	1591	2283	SO:0001819	synonymous_variant	389118				CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"""Cadherins / Cadherin-related"""	34527	protein-coding gene	gene with protein product			"""cadherin-like 29"""	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.1317C>T	3.37:g.49831402G>A			Q6UXT0	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N439	ENST00000412678.2	37	c.1317	CCDS46829.1	3																																																																																			CDHR4	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.607	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR4	HGNC	protein_coding	OTTHUMT00000350387.1	G	NM_001007540		49831402	-1	no_errors	ENST00000412678	ensembl	human	known	70_37	silent	SNP	0.911	A
CHD3	1107	genome.wustl.edu	37	17	7792996	7792996	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:7792996C>G	ENST00000330494.7	+	2	265	c.115C>G	c.(115-117)Cgg>Ggg	p.R39G	CHD3_ENST00000380358.4_Missense_Mutation_p.R98G|CHD3_ENST00000358181.4_Missense_Mutation_p.R39G	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	39					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGATGACATTCGGCTGCTGCC	0.517											OREG0024063	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													68.0	64.0	65.0					17																	7792996		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.115C>G	17.37:g.7792996C>G	ENSP00000332628:p.Arg39Gly	644	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R39G	ENST00000330494.7	37	c.115	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484871	0.26598	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;D;D	0.89617	2.01;-2.54;-2.54	4.59	2.45	0.29901	.	0.846463	0.09870	N	0.745069	T	0.79423	0.4443	N	0.19112	0.55	0.29660	N	0.843266	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.71487	-0.4578	10	0.49607	T	0.09	-10.0807	6.569	0.22529	0.2025:0.6011:0.1963:0.0	.	39;39;98	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	G	98;39;39	ENSP00000369716:R98G;ENSP00000350907:R39G;ENSP00000332628:R39G	ENSP00000332628:R39G	R	+	1	2	CHD3	7733721	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.754000	0.38369	2.250000	0.74265	0.448000	0.29417	CGG	CHD3	-	NULL		0.517	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	C	NM_001005273		7792996	+1	no_errors	ENST00000330494	ensembl	human	known	70_37	missense	SNP	1.000	G
CHD5	26038	genome.wustl.edu	37	1	6202574	6202574	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:6202574C>T	ENST00000262450.3	-	14	2234	c.2135G>A	c.(2134-2136)cGc>cAc	p.R712H	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCAAGAGAAGCGCAGCCAGTT	0.612																																																	0													120.0	86.0	98.0					1																	6202574		2203	4300	6503	SO:0001583	missense	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2135G>A	1.37:g.6202574C>T	ENSP00000262450:p.Arg712His		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R712H	ENST00000262450.3	37	c.2135	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742144	0.89573	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.93019	-3.15	3.43	3.43	0.39272	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000003	D	0.94644	0.8273	L	0.48260	1.515	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	D	0.95270	0.8376	10	0.72032	D	0.01	-18.6991	15.3972	0.74805	0.0:1.0:0.0:0.0	.	712	Q8TDI0	CHD5_HUMAN	H	712;228;120;120	ENSP00000262450:R712H	ENSP00000262450:R712H	R	-	2	0	CHD5	6125161	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.554000	0.82212	1.895000	0.54865	0.561000	0.74099	CGC	CHD5	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.612	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	C	NM_015557		6202574	-1	no_errors	ENST00000262450	ensembl	human	known	70_37	missense	SNP	1.000	T
CLOCK	9575	genome.wustl.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr4:56336954delA	ENST00000309964.4	-	7	618	c.368delT	c.(367-369)ttafs	p.L123fs	CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	123	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289																																																	2	Deletion - Frameshift(2)	ovary(1)|lung(1)											88.0	93.0	92.0					4																	56336954		2201	4298	6499	SO:0001589	frameshift_variant	9575			AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.368delT	4.37:g.56336954delA	ENSP00000308741:p.Leu123fs		A0AV01|A2I2N9|O14516|Q9UIT8	Frame_Shift_Del	DEL	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat	p.L123fs	ENST00000309964.4	37	c.368	CCDS3500.1	4																																																																																			CLOCK	-	pfam_PAS_fold,smart_PAS,pfscan_PAS,prints_Nuc_translocat		0.289	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLOCK	HGNC	protein_coding	OTTHUMT00000361993.2	A	NM_004898		56336954	-1	no_errors	ENST00000309964	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
CNTN1	1272	genome.wustl.edu	37	12	41327645	41327645	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr12:41327645G>A	ENST00000551295.2	+	9	1067	c.950G>A	c.(949-951)gGa>gAa	p.G317E	CNTN1_ENST00000547849.1_Missense_Mutation_p.G317E|CNTN1_ENST00000347616.1_Missense_Mutation_p.G317E|CNTN1_ENST00000348761.2_Missense_Mutation_p.G306E|CNTN1_ENST00000360099.3_Missense_Mutation_p.G317E|CNTN1_ENST00000547702.1_Missense_Mutation_p.G317E	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	317	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AACATTAGAGGAAAGGATAAA	0.343																																																	0													84.0	85.0	85.0					12																	41327645		2203	4299	6502	SO:0001583	missense	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.950G>A	12.37:g.41327645G>A	ENSP00000447006:p.Gly317Glu		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G317E	ENST00000551295.2	37	c.950	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509468	0.85282	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	5.11	5.11	0.69529	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87928	0.6301	M	0.91249	3.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90495	0.4470	10	0.87932	D	0	.	18.918	0.92513	0.0:0.0:1.0:0.0	.	317;306;317	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	E	317;317;317;317;317;306	ENSP00000448004:G317E;ENSP00000447006:G317E;ENSP00000448653:G317E;ENSP00000325660:G317E;ENSP00000353213:G317E;ENSP00000261160:G306E	ENSP00000325660:G317E	G	+	2	0	CNTN1	39613912	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.230000	0.95299	2.572000	0.86782	0.561000	0.74099	GGA	CNTN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.343	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	G	NM_001843		41327645	+1	no_errors	ENST00000347616	ensembl	human	known	70_37	missense	SNP	1.000	A
CNTNAP5	129684	genome.wustl.edu	37	2	125232323	125232323	+	Missense_Mutation	SNP	T	T	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr2:125232323T>G	ENST00000431078.1	+	7	1290	c.926T>G	c.(925-927)tTt>tGt	p.F309C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	309	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAGCTTAGTTTTGGAGGAATT	0.353																																																	0													29.0	27.0	27.0					2																	125232323		1797	4062	5859	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.926T>G	2.37:g.125232323T>G	ENSP00000399013:p.Phe309Cys		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.F309C	ENST00000431078.1	37	c.926	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	T	20.9	4.069443	0.76301	.	.	ENSG00000155052	ENST00000431078	T	0.80653	-1.4	5.97	5.97	0.96955	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.51477	D	0.000085	D	0.91492	0.7314	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93042	0.6458	10	0.87932	D	0	.	15.6255	0.76851	0.0:0.0:0.0:1.0	.	309	Q8WYK1	CNTP5_HUMAN	C	309	ENSP00000399013:F309C	ENSP00000399013:F309C	F	+	2	0	CNTNAP5	124948793	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.504000	0.81646	2.277000	0.76020	0.482000	0.46254	TTT	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.353	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	T			125232323	+1	no_errors	ENST00000431078	ensembl	human	known	70_37	missense	SNP	1.000	G
FUK	197258	genome.wustl.edu	37	16	70516653	70516653	+	IGR	SNP	G	G	A	rs554213038		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr16:70516653G>A	ENST00000288078.6	+	0	4081				COG4_ENST00000323786.5_Silent_p.S633S	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase							cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TGTGGGAGACGGAGAAAAAGC	0.582																																																	0													283.0	198.0	227.0					16																	70516653		2198	4300	6498	SO:0001628	intergenic_variant	25839				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085		16.37:g.70516653G>A			Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	pfam_COG_su4,smart_COG_su4	p.S633	ENST00000288078.6	37	c.1899	CCDS10891.2	16																																																																																			COG4	-	NULL		0.582	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG4	HGNC	protein_coding	OTTHUMT00000157291.2	G	NM_145059		70516653	-1	no_errors	ENST00000323786	ensembl	human	known	70_37	silent	SNP	0.343	A
COL11A1	1301	genome.wustl.edu	37	1	103343636	103343636	+	Missense_Mutation	SNP	T	T	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:103343636T>G	ENST00000370096.3	-	67	5672	c.5360A>C	c.(5359-5361)gAc>gCc	p.D1787A	COL11A1_ENST00000353414.4_Missense_Mutation_p.D1748A|COL11A1_ENST00000358392.2_Missense_Mutation_p.D1799A|COL11A1_ENST00000512756.1_Missense_Mutation_p.D1671A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1787	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATCACCAAAGTCATTGATCAT	0.323																																																	0													106.0	101.0	103.0					1																	103343636		2203	4300	6503	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.5360A>C	1.37:g.103343636T>G	ENSP00000359114:p.Asp1787Ala		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.D1799A	ENST00000370096.3	37	c.5396	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868397	0.72065	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.36	5.36	0.76844	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.92080	0.7490	H	0.96518	3.835	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.997;0.997;0.998;0.997	D	0.94440	0.7657	10	0.87932	D	0	.	15.5299	0.75952	0.0:0.0:0.0:1.0	.	1671;1748;1799;1787;1007	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	A	1787;1799;1748;1007;1671	ENSP00000359114:D1787A;ENSP00000351163:D1799A;ENSP00000302551:D1748A;ENSP00000426533:D1671A	ENSP00000302551:D1748A	D	-	2	0	COL11A1	103116224	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.820000	0.86633	2.254000	0.74563	0.459000	0.35465	GAC	COL11A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C		0.323	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	T	NM_080630		103343636	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	missense	SNP	1.000	G
COL4A5	1287	genome.wustl.edu	37	X	107936120	107936120	+	Silent	SNP	C	C	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:107936120C>A	ENST00000361603.2	+	48	4897	c.4653C>A	c.(4651-4653)ccC>ccA	p.P1551P	COL4A5_ENST00000328300.6_Silent_p.P1557P	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1551	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCATGCAACCCCTAAAGGGCC	0.438									Alport syndrome with Diffuse Leiomyomatosis																																								0													94.0	84.0	87.0					X																	107936120		2203	4300	6503	SO:0001819	synonymous_variant	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4653C>A	X.37:g.107936120C>A			Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1557	ENST00000361603.2	37	c.4671	CCDS14543.1	X																																																																																			COL4A5	-	pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC		0.438	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	C			107936120	+1	no_errors	ENST00000328300	ensembl	human	known	70_37	silent	SNP	0.996	A
CRBN	51185	genome.wustl.edu	37	3	3215804	3215804	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:3215804C>T	ENST00000231948.4	-	3	338	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	CRBN_ENST00000432408.2_Missense_Mutation_p.E105K	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	106	Lon.				negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP-dependent peptidase activity (GO:0004176)	p.E106*(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)	ATACTGACTTCTTGAGGGTGA	0.418																																																	1	Substitution - Nonsense(1)	large_intestine(1)											97.0	99.0	98.0					3																	3215804		2203	4300	6503	SO:0001583	missense	51185			BC017419	CCDS2562.1, CCDS54547.1	3p26.3	2014-05-27			ENSG00000113851	ENSG00000113851			30185	protein-coding gene	gene with protein product		609262	"""mental retardation, non-syndromic, autosomal recessive, 2A"""	MRT2A		15557513	Standard	NM_016302		Approved	MRT2	uc003bpq.3	Q96SW2	OTTHUMG00000090261	ENST00000231948.4:c.316G>A	3.37:g.3215804C>T	ENSP00000231948:p.Glu106Lys		B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Missense_Mutation	SNP	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N	p.E106K	ENST00000231948.4	37	c.316	CCDS2562.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.210870	0.95069	.	.	ENSG00000113851	ENST00000231948;ENST00000432408;ENST00000546075	T;T	0.41758	0.99;0.99	5.75	5.75	0.90469	Peptidase S16, lon N-terminal (2);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.60235	0.2253	L	0.50333	1.59	0.80722	D	1	P;D;D	0.69078	0.949;0.996;0.997	P;D;D	0.79108	0.596;0.987;0.992	T	0.50466	-0.8825	10	0.27082	T	0.32	-30.7803	19.9479	0.97190	0.0:1.0:0.0:0.0	.	43;105;106	F5H3U1;Q96SW2-2;Q96SW2	.;.;CRBN_HUMAN	K	106;105;43	ENSP00000231948:E106K;ENSP00000412499:E105K	ENSP00000231948:E106K	E	-	1	0	CRBN	3190804	1.000000	0.71417	0.974000	0.42286	0.972000	0.66771	5.913000	0.69957	2.704000	0.92352	0.650000	0.86243	GAA	CRBN	-	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N		0.418	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRBN	HGNC	protein_coding	OTTHUMT00000206579.3	C	NM_016302		3215804	-1	no_errors	ENST00000231948	ensembl	human	known	70_37	missense	SNP	1.000	T
CTSS	1520	genome.wustl.edu	37	1	150727516	150727516	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:150727516G>T	ENST00000368985.3	-	4	620	c.360C>A	c.(358-360)gaC>gaA	p.D120E	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Intron	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	120					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCTCTCTCCAGTCCACAGAAT	0.428																																																	0													214.0	206.0	209.0					1																	150727516		2203	4300	6503	SO:0001583	missense	1520			M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.360C>A	1.37:g.150727516G>T	ENSP00000357981:p.Asp120Glu		B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.D120E	ENST00000368985.3	37	c.360	CCDS968.1	1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018006	0.93404	.	.	ENSG00000163131	ENST00000368985	T	0.50277	0.75	5.47	4.55	0.56014	Peptidase C1A, papain C-terminal (2);	0.084489	0.85682	D	0.000000	T	0.79311	0.4424	H	0.99811	4.8	0.80722	D	1	D	0.63046	0.992	D	0.69142	0.962	D	0.86923	0.2068	10	0.87932	D	0	.	12.4012	0.55414	0.0821:0.0:0.9179:0.0	.	120	P25774	CATS_HUMAN	E	120	ENSP00000357981:D120E	ENSP00000357981:D120E	D	-	3	2	CTSS	148994140	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.605000	0.61119	2.573000	0.86826	0.591000	0.81541	GAC	CTSS	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.428	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSS	HGNC	protein_coding	OTTHUMT00000084737.1	G	NM_004079		150727516	-1	no_errors	ENST00000368985	ensembl	human	known	70_37	missense	SNP	1.000	T
CREB3L4	148327	genome.wustl.edu	37	1	153941559	153941559	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:153941559C>T	ENST00000368607.3	+	3	594	c.328C>T	c.(328-330)Cct>Tct	p.P110S	SLC39A1_ENST00000310483.6_5'Flank|CREB3L4_ENST00000368601.1_Missense_Mutation_p.P110S|CREB3L4_ENST00000368603.1_Missense_Mutation_p.P110S|RP11-422P24.10_ENST00000608147.1_RNA|CREB3L4_ENST00000405694.3_Intron|CREB3L4_ENST00000368600.3_Missense_Mutation_p.P90S|CREB3L4_ENST00000271889.4_Missense_Mutation_p.P110S	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	110					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AACCAGTTCTCCTATGCTCTA	0.577																																																	0													96.0	100.0	98.0					1																	153941559		2203	4300	6503	SO:0001583	missense	148327			AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"""basic leucine zipper proteins"""	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.328C>T	1.37:g.153941559C>T	ENSP00000357596:p.Pro110Ser		D3DV62|Q5T4L0|Q86YW6	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.P110S	ENST00000368607.3	37	c.328	CCDS1056.1	1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107684	0.56291	.	.	ENSG00000143578	ENST00000449724;ENST00000368607;ENST00000271889;ENST00000368601;ENST00000368603;ENST00000368600;ENST00000431292	T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	M	0.64997	1.995	0.80722	D	1	D;P;D	0.89917	0.998;0.901;1.0	D;P;D	0.85130	0.966;0.536;0.997	T	0.39860	-0.9593	9	.	.	.	.	15.8247	0.78690	0.0:1.0:0.0:0.0	.	110;90;110	B4E2G3;Q5T4L0;Q8TEY5	.;.;CR3L4_HUMAN	S	90;110;110;110;110;90;110	ENSP00000391847:P90S;ENSP00000357596:P110S;ENSP00000271889:P110S;ENSP00000357590:P110S;ENSP00000357592:P110S;ENSP00000357589:P90S;ENSP00000402308:P110S	.	P	+	1	0	CREB3L4	152208183	0.730000	0.28100	1.000000	0.80357	0.283000	0.27025	3.308000	0.51896	2.666000	0.90696	0.561000	0.74099	CCT	CREB3L4	-	NULL		0.577	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CREB3L4	HGNC	protein_coding	OTTHUMT00000090291.1	C	NM_130898		153941559	+1	no_errors	ENST00000271889	ensembl	human	known	70_37	missense	SNP	1.000	T
CXorf23	256643	genome.wustl.edu	37	X	19973608	19973608	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:19973608G>A	ENST00000379682.4	-	4	1384	c.1351C>T	c.(1351-1353)Cat>Tat	p.H451Y	CXorf23_ENST00000379687.3_Missense_Mutation_p.H451Y|CXorf23_ENST00000356980.3_Missense_Mutation_p.H451Y			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	451						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						AACACTGGATGAAAGTTCTCA	0.368																																																	0													144.0	123.0	130.0					X																	19973608		2203	4300	6503	SO:0001583	missense	256643			AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.1351C>T	X.37:g.19973608G>A	ENSP00000369004:p.His451Tyr		A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	NULL	p.H451Y	ENST00000379682.4	37	c.1351		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.90|18.90	3.720791|3.720791	0.68959|0.68959	.|.	.|.	ENSG00000173681|ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038|ENST00000340625	T;T;T|.	0.17213|.	2.29;2.29;2.29|.	5.66|5.66	4.76|4.76	0.60689|0.60689	.|.	.|.	.|.	.|.	.|.	T|T	0.61048|0.61048	0.2316|0.2316	M|M	0.61703|0.61703	1.905|1.905	0.33219|0.33219	D|D	0.55441|0.55441	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.998;0.998;0.998|.	T|T	0.70107|0.70107	-0.4963|-0.4963	8|5	.|.	.|.	.|.	.|.	13.7264|13.7264	0.62761|0.62761	0.0:0.1498:0.8502:0.0|0.0:0.1498:0.8502:0.0	.|.	162;451;451|.	B7ZLM9;A2AJT9-2;A2AJT9|.	.;.;CX023_HUMAN|.	Y|L	451;451;451;339|59	ENSP00000369009:H451Y;ENSP00000369004:H451Y;ENSP00000349470:H451Y|.	.|.	H|S	-|-	1|2	0|0	CXorf23|CXorf23	19883529|19883529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.121000|3.121000	0.50438|0.50438	1.086000|1.086000	0.41228|0.41228	0.600000|0.600000	0.82982|0.82982	CAT|TCA	CXorf23	-	NULL		0.368	CXorf23-006	NOVEL	basic	protein_coding	CXorf23	HGNC	protein_coding	OTTHUMT00000055991.2	G	NM_198279		19973608	-1	no_errors	ENST00000379687	ensembl	human	known	70_37	missense	SNP	1.000	A
CYP7B1	9420	genome.wustl.edu	37	8	65509246	65509246	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:65509246G>A	ENST00000310193.3	-	6	1647	c.1474C>T	c.(1474-1476)Cag>Tag	p.Q492*	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	492					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TCTGGATACTGAATACCAAAC	0.279																																																	0													45.0	48.0	47.0					8																	65509246		2202	4300	6502	SO:0001587	stop_gained	9420			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1474C>T	8.37:g.65509246G>A	ENSP00000310721:p.Gln492*		B2RN07|Q9UNF5	Nonsense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450	p.Q492*	ENST00000310193.3	37	c.1474	CCDS6180.1	8	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614717	0.87359	.	.	ENSG00000172817	ENST00000310193	.	.	.	5.41	3.56	0.40772	.	0.594177	0.16672	N	0.204329	.	.	.	.	.	.	0.48762	D	0.9997	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-26.1733	7.8696	0.29558	0.1462:0.1344:0.7194:0.0	.	.	.	.	X	492	.	ENSP00000310721:Q492X	Q	-	1	0	CYP7B1	65671800	0.998000	0.40836	0.075000	0.20258	0.050000	0.14768	2.108000	0.41854	0.596000	0.29794	0.563000	0.77884	CAG	CYP7B1	-	superfamily_Cyt_P450		0.279	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7B1	HGNC	protein_coding	OTTHUMT00000378550.1	G			65509246	-1	no_errors	ENST00000310193	ensembl	human	known	70_37	nonsense	SNP	0.487	A
DCHS2	54798	genome.wustl.edu	37	4	155252850	155252850	+	Silent	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr4:155252850G>A	ENST00000357232.4	-	10	2249	c.2250C>T	c.(2248-2250)atC>atT	p.I750I	DCHS2_ENST00000339452.1_Intron|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	750	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTATGACATAGATGGTGCCTG	0.468																																																	0													53.0	46.0	49.0					4																	155252850		2203	4300	6503	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2250C>T	4.37:g.155252850G>A			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I750	ENST00000357232.4	37	c.2250	CCDS3785.1	4																																																																																			DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.468	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	G	NM_001142552		155252850	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	silent	SNP	0.000	A
DEFB104A	140596	genome.wustl.edu	37	8	7698576	7698576	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:7698576G>A	ENST00000314265.2	+	2	93	c.79G>A	c.(79-81)Gac>Aac	p.D27N		NM_080389.2	NP_525128.2	Q8WTQ1	D104A_HUMAN	defensin, beta 104A	27					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.D27N(1)		liver(2)|pancreas(1)|skin(1)	4				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		ATTTGAATTGGACAGAATATG	0.448																																																	1	Substitution - Missense(1)	skin(1)											86.0	77.0	80.0					8																	7698576		2201	4276	6477	SO:0001583	missense	140596			AJ314835	CCDS34834.1	8p23.1	2011-03-29	2005-02-25	2005-02-25	ENSG00000176782	ENSG00000176782		"""Defensins, beta"""	18115	protein-coding gene	gene with protein product			"""defensin, beta 104"""	DEFB104			Standard	NM_080389		Approved	DEFB4, DEFB-4		Q8WTQ1	OTTHUMG00000150014	ENST00000314265.2:c.79G>A	8.37:g.7698576G>A	ENSP00000320813:p.Asp27Asn		Q496I2|Q496I3|Q496I4	Missense_Mutation	SNP	NULL	p.D27N	ENST00000314265.2	37	c.79	CCDS34834.1	8	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802937	0.31869	.	.	ENSG00000176782	ENST00000314265	T	0.13901	2.55	2.72	-0.268	0.12934	.	0.708276	0.11679	N	0.539975	T	0.13670	0.0331	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27673	-1.0067	7	0.62326	D	0.03	-11.9683	5.1927	0.15218	0.4594:0.0:0.5406:0.0	.	.	.	.	N	27	ENSP00000320813:D27N	ENSP00000320813:D27N	D	+	1	0	DEFB104A	7735986	0.000000	0.05858	0.000000	0.03702	0.483000	0.33249	0.415000	0.21181	-0.220000	0.09988	-0.335000	0.08231	GAC	DEFB104A	-	NULL		0.448	DEFB104A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB104A	HGNC	protein_coding	OTTHUMT00000315761.1	G	NM_080389		7698576	+1	no_errors	ENST00000314265	ensembl	human	known	70_37	missense	SNP	0.000	A
DECR1	1666	genome.wustl.edu	37	8	91013777	91013777	+	Silent	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:91013777C>T	ENST00000220764.2	+	1	145	c.57C>T	c.(55-57)ctC>ctT	p.L19L	DECR1_ENST00000522161.1_5'UTR|DECR1_ENST00000519007.1_3'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	19					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CCTGTGGCCTCGCTCCTCGGA	0.697											OREG0018857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													17.0	20.0	19.0					8																	91013777		2202	4299	6501	SO:0001819	synonymous_variant	1666			L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2753	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 18C, member 1"""	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.57C>T	8.37:g.91013777C>T		1279	B7Z6B8|Q2M304|Q93085	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	p.L19	ENST00000220764.2	37	c.57	CCDS6250.1	8																																																																																			DECR1	-	NULL		0.697	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DECR1	HGNC	protein_coding	OTTHUMT00000375822.1	C			91013777	+1	no_errors	ENST00000220764	ensembl	human	known	70_37	silent	SNP	0.000	T
DLG2	1740	genome.wustl.edu	37	11	84996344	84996344	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:84996344C>T	ENST00000376104.2	-	4	417	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	DLG2_ENST00000543673.1_Missense_Mutation_p.E36K	NM_001142699.1	NP_001136171.1	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGATTGGCTTCTTCTATCTTC	0.358																																																	0													207.0	185.0	191.0					11																	84996344		1568	3581	5149	SO:0001583	missense	1740			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000376104.2:c.106G>A	11.37:g.84996344C>T	ENSP00000365272:p.Glu36Lys		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.E36K	ENST00000376104.2	37	c.106	CCDS44690.1	11	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140705	0.77775	.	.	ENSG00000150672	ENST00000376104;ENST00000543673;ENST00000546021	T;T	0.18502	2.21;2.21	5.88	5.88	0.94601	.	0.113565	0.34906	N	0.003586	T	0.36690	0.0976	L	0.46819	1.47	0.80722	D	1	D	0.56035	0.974	D	0.67725	0.953	T	0.00367	-1.1785	9	.	.	.	.	19.8331	0.96643	0.0:1.0:0.0:0.0	.	36	Q15700-2	.	K	36	ENSP00000365272:E36K;ENSP00000441994:E36K	.	E	-	1	0	DLG2	84673992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.087000	0.71362	2.779000	0.95612	0.650000	0.86243	GAA	DLG2	-	pirsf_M-assoc_guanylate_kinase		0.358	DLG2-003	KNOWN	basic|CCDS	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259245.3	C	NM_001364		84996344	-1	no_errors	ENST00000376104	ensembl	human	known	70_37	missense	SNP	1.000	T
DLX6	1750	genome.wustl.edu	37	7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC	rs527616759|rs570498188|rs559903070|rs374304439	byFrequency	TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-135)cagccg>caGCCgccg	p.53_54insP	DLX6-AS1_ENST00000431497.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698														532	0.10623	0.0076	0.0893	5008	,	,		7133	0.0685		0.1948	False		,,,				2504	0.1994																0																																										SO:0001652	inframe_insertion	1750				CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.156_158dupGCC	7.37:g.96635427_96635429dupGCC	ENSP00000428480:p.Pro54_Pro55dup		A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Ins	INS	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.48in_frame_insP	ENST00000518156.2	37	c.131_132	CCDS47647.2	7																																																																																			DLX6	-	NULL		0.698	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLX6	HGNC	protein_coding	OTTHUMT00000334373.4	-	NM_005222		96635421	+1	no_errors	ENST00000518156	ensembl	human	known	70_37	in_frame_ins	INS	0.990:1.000	GCC
DNAJC13	23317	genome.wustl.edu	37	3	132245079	132245079	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:132245079C>T	ENST00000260818.6	+	53	6583	c.6335C>T	c.(6334-6336)gCa>gTa	p.A2112V		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2112					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GCCTGTGAAGCAATTAATCGA	0.408																																																	0													115.0	110.0	112.0					3																	132245079		2203	4300	6503	SO:0001583	missense	23317			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.6335C>T	3.37:g.132245079C>T	ENSP00000260818:p.Ala2112Val		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.A2112V	ENST00000260818.6	37	c.6335	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977107	0.74360	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.56611	0.45	5.58	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	M	0.72894	2.215	0.58432	D	0.999993	B	0.29188	0.236	B	0.26416	0.069	T	0.56486	-0.7971	10	0.56958	D	0.05	.	14.5672	0.68185	0.0:0.9298:0.0:0.0702	.	2112	O75165	DJC13_HUMAN	V	2112;759	ENSP00000260818:A2112V	ENSP00000260818:A2112V	A	+	2	0	DNAJC13	133727769	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.897000	0.69831	1.501000	0.48654	0.591000	0.81541	GCA	DNAJC13	-	superfamily_ARM-type_fold		0.408	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	C	NM_015268		132245079	+1	no_errors	ENST00000260818	ensembl	human	known	70_37	missense	SNP	1.000	T
DNHD1	144132	genome.wustl.edu	37	11	6567870	6567870	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:6567870C>T	ENST00000527990.2	+	19	5701	c.5701C>T	c.(5701-5703)Cgc>Tgc	p.R1901C	DNHD1_ENST00000254579.6_Missense_Mutation_p.R1901C			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1901					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCAGAAGCCTCGCAGCCTAGC	0.582																																																	0													60.0	50.0	53.0					11																	6567870		692	1591	2283	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.5701C>T	11.37:g.6567870C>T	ENSP00000436180:p.Arg1901Cys		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE	p.R1901C	ENST00000527990.2	37	c.5701	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	C	6.678	0.493628	0.12702	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000533649	T;T	0.27720	1.65;1.65	4.85	-3.41	0.04839	.	1.690420	0.02819	N	0.125295	T	0.18509	0.0444	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.29941	-0.9995	10	0.66056	D	0.02	.	6.6805	0.23117	0.0:0.4016:0.2855:0.3129	.	1901	Q96M86	DNHD1_HUMAN	C	1901;1901;192	ENSP00000254579:R1901C;ENSP00000436180:R1901C	ENSP00000254579:R1901C	R	+	1	0	DNHD1	6524446	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.859000	0.04277	-0.955000	0.03636	0.655000	0.94253	CGC	DNHD1	-	NULL		0.582	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	C	NM_144666		6567870	+1	no_errors	ENST00000254579	ensembl	human	known	70_37	missense	SNP	0.000	T
DSN1	79980	genome.wustl.edu	37	20	35384117	35384117	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr20:35384117G>T	ENST00000426836.1	-	9	1213	c.841C>A	c.(841-843)Cag>Aag	p.Q281K	DSN1_ENST00000448110.2_Missense_Mutation_p.Q265K|DSN1_ENST00000373750.4_Missense_Mutation_p.Q281K|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373740.3_Missense_Mutation_p.Q209K|DSN1_ENST00000373745.3_Missense_Mutation_p.Q281K|DSN1_ENST00000373734.4_Missense_Mutation_p.Q174K	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	281					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				ACTTTGCTCTGGTTCTGTAAT	0.373																																																	0													115.0	100.0	105.0					20																	35384117		2203	4300	6503	SO:0001583	missense	79980			AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.841C>A	20.37:g.35384117G>T	ENSP00000389810:p.Gln281Lys		B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	pfam_Mtw1_DSN1	p.Q281K	ENST00000426836.1	37	c.841	CCDS13286.1	20	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222107	0.79464	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373733;ENST00000373750;ENST00000373740;ENST00000373734;ENST00000449595	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	L	0.36672	1.1	0.33640	D	0.607123	P;D	0.53619	0.835;0.961	P;P	0.51516	0.524;0.672	T	0.59736	-0.7398	9	0.44086	T	0.13	-21.2886	14.1085	0.65107	0.0:0.0:1.0:0.0	.	174;281	Q5JW55;Q9H410	.;DSN1_HUMAN	K	281;281;265;214;281;209;174;265	.	ENSP00000362838:Q214K	Q	-	1	0	DSN1	34817531	0.993000	0.37304	0.452000	0.26994	0.938000	0.57974	3.356000	0.52269	2.704000	0.92352	0.650000	0.86243	CAG	DSN1	-	pfam_Mtw1_DSN1		0.373	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSN1	HGNC	protein_coding	OTTHUMT00000079043.2	G	NM_024918		35384117	-1	no_errors	ENST00000373745	ensembl	human	known	70_37	missense	SNP	0.744	T
ECHDC2	55268	genome.wustl.edu	37	1	53373550	53373550	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:53373550C>T	ENST00000371522.4	-	4	447	c.354G>A	c.(352-354)atG>atA	p.M118I	ECHDC2_ENST00000358358.5_Missense_Mutation_p.M118I|ECHDC2_ENST00000536120.1_Missense_Mutation_p.M72I|ECHDC2_ENST00000541281.1_Missense_Mutation_p.M72I	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	118					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CGATGTCATTCATCAGGCCCC	0.612																																																	0													90.0	84.0	86.0					1																	53373550		2203	4300	6503	SO:0001583	missense	55268			AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.354G>A	1.37:g.53373550C>T	ENSP00000360577:p.Met118Ile		D3DQ36|Q9NV38	Missense_Mutation	SNP	pfam_Crotonase_core	p.M118I	ENST00000371522.4	37	c.354	CCDS55600.1	1	.	.	.	.	.	.	.	.	.	.	c	10.74	1.435401	0.25813	.	.	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000536120;ENST00000467988;ENST00000541281	T;T;T;T;T	0.75589	-0.19;-0.95;-0.19;-0.95;-0.19	5.19	5.19	0.71726	Crotonase, core (1);	0.157236	0.64402	D	0.000001	T	0.61615	0.2361	N	0.10809	0.05	0.45762	D	0.998651	P;P;P	0.40834	0.659;0.571;0.73	B;B;B	0.42319	0.191;0.383;0.264	T	0.63166	-0.6698	10	0.30078	T	0.28	.	17.9087	0.88927	0.0:1.0:0.0:0.0	.	72;118;118	B4DSN9;Q86YB7;Q86YB7-2	.;ECHD2_HUMAN;.	I	118;118;72;118;72	ENSP00000360577:M118I;ENSP00000351125:M118I;ENSP00000439264:M72I;ENSP00000441962:M118I;ENSP00000445358:M72I	ENSP00000351125:M118I	M	-	3	0	ECHDC2	53146138	1.000000	0.71417	0.999000	0.59377	0.354000	0.29330	2.296000	0.43584	2.582000	0.87167	0.550000	0.68814	ATG	ECHDC2	-	pfam_Crotonase_core		0.612	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ECHDC2	HGNC	protein_coding	OTTHUMT00000024712.3	C	NM_018281		53373550	-1	no_errors	ENST00000371522	ensembl	human	known	70_37	missense	SNP	1.000	T
EEF1B2	1933	genome.wustl.edu	37	2	207027539	207027539	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr2:207027539G>C	ENST00000392222.2	+	6	985	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	SNORD51_ENST00000384320.2_RNA|EEF1B2_ENST00000392221.1_Missense_Mutation_p.E204Q|EEF1B2_ENST00000236957.5_Missense_Mutation_p.E204Q|SNORA41_ENST00000384675.1_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	204					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGATATGCTGGAGGAGCAGAT	0.383																																																	0													52.0	53.0	52.0					2																	207027539		2200	4281	6481	SO:0001583	missense	1933			X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.610G>C	2.37:g.207027539G>C	ENSP00000376056:p.Glu204Gln		A8K795|Q6IBH9	Missense_Mutation	SNP	pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,superfamily_Glutathione-S-Trfase_C-like,smart_Transl_elong_fac_EF1B_bsu/dsu	p.E204Q	ENST00000392222.2	37	c.610	CCDS2367.1	2	.	.	.	.	.	.	.	.	.	.	G	7.583	0.669048	0.14776	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222	.	.	.	5.2	5.2	0.72013	Translation elongation factor EF1B/ribosomal protein S6 (1);Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange (3);	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	L	0.35793	1.09	0.80722	D	1	B	0.12630	0.006	B	0.21546	0.035	T	0.50491	-0.8822	9	0.05436	T	0.98	-32.4891	18.7341	0.91748	0.0:0.0:1.0:0.0	.	204	P24534	EF1B_HUMAN	Q	204	.	ENSP00000236957:E204Q	E	+	1	0	EEF1B2	206735784	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.869000	0.99810	2.435000	0.82474	0.655000	0.94253	GAG	EEF1B2	-	pfam_Transl_elong_fac_EF1B_bsu/dsu,superfamily_Transl_elong_fac_EF1B_bsu/dsu,smart_Transl_elong_fac_EF1B_bsu/dsu		0.383	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EEF1B2	HGNC	protein_coding	OTTHUMT00000336436.1	G	NM_001037663		207027539	+1	no_errors	ENST00000236957	ensembl	human	known	70_37	missense	SNP	1.000	C
EIF4ENIF1	56478	genome.wustl.edu	37	22	31837859	31837859	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr22:31837859G>C	ENST00000397525.1	-	17	2675	c.2452C>G	c.(2452-2454)Cct>Gct	p.P818A	EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.P818A|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.P644A|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.P473A|EIF4ENIF1_ENST00000441289.1_5'Flank|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.P794A	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	818						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTAACCATAGGGACATGGGGG	0.547																																																	0													197.0	169.0	178.0					22																	31837859		2203	4300	6503	SO:0001583	missense	56478			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2452C>G	22.37:g.31837859G>C	ENSP00000380659:p.Pro818Ala		B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	pfam_eIF4E_transporter	p.P818A	ENST00000397525.1	37	c.2452	CCDS13898.1	22	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856316	0.91355	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.78761	0.4334	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.91635	0.994;0.994;0.999;0.994	T	0.78570	-0.2153	9	0.72032	D	0.01	-15.0593	19.5548	0.95338	0.0:0.0:1.0:0.0	.	644;818;643;794	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	A	644;818;818;794;473	.	ENSP00000328103:P818A	P	-	1	0	EIF4ENIF1	30167859	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.335000	0.90031	2.854000	0.98071	0.655000	0.94253	CCT	EIF4ENIF1	-	NULL		0.547	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4ENIF1	HGNC	protein_coding	OTTHUMT00000127926.1	G	NM_019843		31837859	-1	no_errors	ENST00000330125	ensembl	human	known	70_37	missense	SNP	1.000	C
ELTD1	64123	genome.wustl.edu	37	1	79412053	79412053	+	Silent	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:79412053G>A	ENST00000370742.3	-	3	294	c.231C>T	c.(229-231)aaC>aaT	p.N77N		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	77	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTCCTTCTGTGTTAGTGCAAT	0.343																																																	0													86.0	81.0	82.0					1																	79412053		1888	4120	6008	SO:0001819	synonymous_variant	64123			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.231C>T	1.37:g.79412053G>A			B1AR71|Q5KU34	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.N77	ENST00000370742.3	37	c.231	CCDS41352.1	1																																																																																			ELTD1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.343	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1	G	NM_022159		79412053	-1	no_errors	ENST00000370742	ensembl	human	known	70_37	silent	SNP	0.990	A
EMC10	284361	genome.wustl.edu	37	19	50985831	50985831	+	3'UTR	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr19:50985831C>T	ENST00000334976.6	+	0	1150				EMC10_ENST00000598585.1_Missense_Mutation_p.S321F|EMC10_ENST00000376918.3_3'UTR|CTD-2545M3.2_ENST00000598194.1_RNA	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10							ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)											GACCTCGCATCCCCCTACCCC	0.662																																																	0																																										SO:0001624	3_prime_UTR_variant	284361			BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"""hematopoietic signal peptide-containing secreted 1"", ""hematopoietic signal peptide-containing membrane domain-containing 1"""	614545	"""chromosome 19 open reading frame 63"""	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.*315C>T	19.37:g.50985831C>T			Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Missense_Mutation	SNP	NULL	p.S321F	ENST00000334976.6	37	c.962	CCDS12796.1	19																																																																																			EMC10	-	NULL		0.662	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC10	HGNC	protein_coding	OTTHUMT00000464760.2	C	NM_175063		50985831	+1	no_errors	ENST00000598585	ensembl	human	putative	70_37	missense	SNP	0.000	T
EML6	400954	genome.wustl.edu	37	2	55074750	55074750	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr2:55074750C>G	ENST00000356458.6	+	8	1697	c.1177C>G	c.(1177-1179)Ctc>Gtc	p.L393V	RNU7-81P_ENST00000516698.1_RNA	NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	393						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						TTTCATTGTTCTCCGAGTCAG	0.488																																																	0													88.0	70.0	76.0					2																	55074750		692	1591	2283	SO:0001583	missense	400954				CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.1177C>G	2.37:g.55074750C>G	ENSP00000348842:p.Leu393Val		A8MUB5|B6ZDG7	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L393V	ENST00000356458.6	37	c.1177	CCDS46286.1	2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.767820	0.90020	.	.	ENSG00000214595	ENST00000356458	T	0.04970	3.52	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.24534	U	0.037696	T	0.24122	0.0584	M	0.63169	1.94	0.80722	D	1	D	0.69078	0.997	D	0.65443	0.935	T	0.00027	-1.2307	10	0.66056	D	0.02	.	20.0695	0.97716	0.0:1.0:0.0:0.0	.	393	Q6ZMW3	EMAL6_HUMAN	V	393	ENSP00000348842:L393V	ENSP00000348842:L393V	L	+	1	0	EML6	54928254	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	5.763000	0.68818	2.761000	0.94854	0.585000	0.79938	CTC	EML6	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.488	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	HGNC	protein_coding	OTTHUMT00000324997.3	C	XM_001725002		55074750	+1	no_errors	ENST00000356458	ensembl	human	novel	70_37	missense	SNP	1.000	G
ENPP2	5168	genome.wustl.edu	37	8	120581607	120581607	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:120581607C>G	ENST00000075322.6	-	21	1979	c.1921G>C	c.(1921-1923)Gag>Cag	p.E641Q	ENPP2_ENST00000259486.6_Missense_Mutation_p.E693Q|ENPP2_ENST00000522167.1_Missense_Mutation_p.E276Q|ENPP2_ENST00000522826.1_Missense_Mutation_p.E666Q|ENPP2_ENST00000427067.2_Missense_Mutation_p.E662Q	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	641					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTGGAAACCTCAGCCTGCACG	0.507																																					Melanoma(20;305 879 2501 4818 31020)												0													87.0	77.0	80.0					8																	120581607		2203	4300	6503	SO:0001583	missense	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1921G>C	8.37:g.120581607C>G	ENSP00000075322:p.Glu641Gln		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.E693Q	ENST00000075322.6	37	c.2077	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230978	0.58777	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.36	5.36	0.76844	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.199327	0.52532	D	0.000067	T	0.72203	0.3431	L	0.27053	0.805	0.80722	D	1	D;P;B;B;P	0.61080	0.989;0.458;0.04;0.411;0.907	D;P;B;P;P	0.69142	0.962;0.704;0.101;0.514;0.468	T	0.69331	-0.5173	10	0.28530	T	0.3	.	19.1047	0.93290	0.0:1.0:0.0:0.0	.	179;666;641;693;276	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	Q	693;662;276;666;641	ENSP00000259486:E693Q;ENSP00000403315:E662Q;ENSP00000429476:E276Q;ENSP00000428291:E666Q;ENSP00000075322:E641Q	ENSP00000075322:E641Q	E	-	1	0	ENPP2	120650788	1.000000	0.71417	0.992000	0.48379	0.164000	0.22412	7.008000	0.76341	2.515000	0.84797	0.650000	0.86243	GAG	ENPP2	-	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A		0.507	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	C			120581607	-1	no_errors	ENST00000259486	ensembl	human	known	70_37	missense	SNP	1.000	G
LINC01205	401082	genome.wustl.edu	37	3	109129036	109129036	+	lincRNA	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:109129036G>A	ENST00000497996.1	+	0	200																											CGGTGCGGCGGCGGCTGCGAA	0.502																																																	0													21.0	27.0	25.0					3																	109129036		692	1591	2283			0																															3.37:g.109129036G>A				RNA	SNP	-	NULL	ENST00000497996.1	37	NULL		3																																																																																			RP11-702L6.4	-	-		0.502	RP11-702L6.4-002	KNOWN	basic	lincRNA	ENSG00000228980	Clone_based_vega_gene	lincRNA	OTTHUMT00000353892.1	G			109129036	+1	no_errors	ENST00000489670	ensembl	human	known	70_37	rna	SNP	0.126	A
DNM1P47	100216544	genome.wustl.edu	37	15	102303197	102303197	+	RNA	SNP	T	T	G	rs4965954		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr15:102303197T>G	ENST00000561463.1	+	0	11243									DNM1 pseudogene 47																		ACCAAGGAGTTCATCTTCTCA	0.587																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102303197T>G				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			CTD-2611K5.6	-	-		0.587	DNM1P47-001	KNOWN	basic	processed_transcript	ENSG00000259660	Clone_based_vega_gene	pseudogene	OTTHUMT00000417589.1	T	NG_009149		102303197	+1	no_errors	ENST00000561463	ensembl	human	known	70_37	rna	SNP	0.996	G
ZNF304	57343	genome.wustl.edu	37	19	57862946	57862946	+	5'UTR	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr19:57862946G>A	ENST00000282286.5	+	0	87				CTC-444N24.13_ENST00000597973.1_RNA|ZNF304_ENST00000598744.1_5'UTR|ZNF304_ENST00000391705.3_5'UTR|ZNF304_ENST00000443917.2_5'UTR			Q9HCX3	ZN304_HUMAN	zinc finger protein 304						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GACTTGGAGTGCTACACTCAG	0.612																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.-87G>A	19.37:g.57862946G>A				RNA	SNP	-	NULL	ENST00000282286.5	37	NULL	CCDS12950.1	19																																																																																			CTC-444N24.13	-	-		0.612	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000268678	Clone_based_vega_gene	protein_coding	OTTHUMT00000465785.1	G			57862946	-1	no_errors	ENST00000597973	ensembl	human	known	70_37	rna	SNP	0.000	A
EPHA8	2046	genome.wustl.edu	37	1	22903298	22903298	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:22903298G>C	ENST00000166244.3	+	3	820	c.748G>C	c.(748-750)Gag>Cag	p.E250Q	EPHA8_ENST00000538803.1_Missense_Mutation_p.E250Q|EPHA8_ENST00000374644.4_Missense_Mutation_p.E250Q	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	250	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGCAGCGCGGAGGGCGAGTG	0.687																																																	0													43.0	42.0	42.0					1																	22903298		2203	4300	6503	SO:0001583	missense	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.748G>C	1.37:g.22903298G>C	ENSP00000166244:p.Glu250Gln		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E250Q	ENST00000166244.3	37	c.748	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402663	0.83230	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.74737	-0.87;4.94;4.94	4.09	4.09	0.47781	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.84570	0.5501	M	0.69823	2.125	0.58432	D	0.999996	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.991	D	0.86942	0.2080	10	0.87932	D	0	.	15.0354	0.71741	0.0:0.0:1.0:0.0	.	250;250	P29322;P29322-2	EPHA8_HUMAN;.	Q	250	ENSP00000166244:E250Q;ENSP00000363775:E250Q;ENSP00000440274:E250Q	ENSP00000166244:E250Q	E	+	1	0	EPHA8	22775885	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.563000	0.98148	2.103000	0.63969	0.442000	0.29010	GAG	EPHA8	-	pirsf_Tyr_kinase_ephrin_rcpt		0.687	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	HGNC	protein_coding	OTTHUMT00000008085.1	G	NM_020526		22903298	+1	no_errors	ENST00000166244	ensembl	human	known	70_37	missense	SNP	1.000	C
EXPH5	23086	genome.wustl.edu	37	11	108385575	108385575	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:108385575G>A	ENST00000265843.4	-	6	769	c.659C>T	c.(658-660)gCt>gTt	p.A220V	EXPH5_ENST00000428840.1_Missense_Mutation_p.A144V|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Missense_Mutation_p.A32V|EXPH5_ENST00000525344.1_Missense_Mutation_p.A213V	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	220					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTGTTCCTGAGCCAATTTGCT	0.373																																																	0													130.0	120.0	123.0					11																	108385575		2201	4298	6499	SO:0001583	missense	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.659C>T	11.37:g.108385575G>A	ENSP00000265843:p.Ala220Val		Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.A220V	ENST00000265843.4	37	c.659	CCDS8341.1	11	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791391	0.90367	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.14144	3.09;3.0;2.86;3.09;2.84;2.53	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000016	T	0.40498	0.1119	M	0.71581	2.175	0.44966	D	0.997984	D	0.89917	1.0	D	0.87578	0.998	T	0.10019	-1.0648	10	0.72032	D	0.01	-18.3982	19.6019	0.95566	0.0:0.0:1.0:0.0	.	220	Q8NEV8	EXPH5_HUMAN	V	220;144;32;213;64;144;32	ENSP00000265843:A220V;ENSP00000391966:A144V;ENSP00000411390:A32V;ENSP00000432546:A213V;ENSP00000432683:A144V;ENSP00000446434:A32V	ENSP00000265843:A220V	A	-	2	0	EXPH5	107890785	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.407000	0.73280	2.723000	0.93209	0.655000	0.94253	GCT	EXPH5	-	NULL		0.373	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1	G	NM_015065		108385575	-1	no_errors	ENST00000265843	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM83H	286077	genome.wustl.edu	37	8	144811394	144811394	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:144811394C>T	ENST00000388913.3	-	3	672	c.547G>A	c.(547-549)Gag>Aag	p.E183K		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	183					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGTTCATCTCATCCAGCAGG	0.622																																																	0													67.0	75.0	72.0					8																	144811394		2087	4202	6289	SO:0001583	missense	286077			AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.547G>A	8.37:g.144811394C>T	ENSP00000373565:p.Glu183Lys		A0JLS2|Q8N4W0	Missense_Mutation	SNP	pfam_DUF1669	p.E183K	ENST00000388913.3	37	c.547	CCDS6410.2	8	.	.	.	.	.	.	.	.	.	.	c	30	5.058185	0.93846	.	.	ENSG00000180921	ENST00000388913	T	0.12039	2.72	5.11	5.11	0.69529	.	0.056730	0.64402	D	0.000002	T	0.31136	0.0787	L	0.58669	1.825	0.44432	D	0.997351	D	0.61080	0.989	D	0.65010	0.931	T	0.00967	-1.1497	10	0.66056	D	0.02	.	13.597	0.61996	0.0:0.8443:0.1557:0.0	.	183	Q6ZRV2	FA83H_HUMAN	K	183	ENSP00000373565:E183K	ENSP00000373565:E183K	E	-	1	0	FAM83H	144883382	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.838000	0.55828	2.541000	0.85698	0.561000	0.74099	GAG	FAM83H	-	pfam_DUF1669		0.622	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83H	HGNC	protein_coding	OTTHUMT00000257632.2	C	NM_198488		144811394	-1	no_errors	ENST00000388913	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM96B	51647	genome.wustl.edu	37	16	66966114	66966114	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr16:66966114G>A	ENST00000422424.2	-	5	519	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	CES2_ENST00000417689.1_5'Flank|CES2_ENST00000317091.4_5'Flank	NM_016062.3	NP_057146.1	Q9Y3D0	MIP18_HUMAN	family with sequence similarity 96, member B	162					chromosome segregation (GO:0007059)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)				kidney(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GCTCAGGAGCGGGCTGACAGG	0.557																																																	0													47.0	53.0	51.0					16																	66966114		1985	4165	6150	SO:0001583	missense	51647				CCDS45506.1	16q22.1	2014-01-16			ENSG00000166595	ENSG00000166595			24261	protein-coding gene	gene with protein product		614778				11042152, 10810093, 23891004	Standard	NM_016062		Approved	CGI-128	uc021tjy.2	Q9Y3D0	OTTHUMG00000175408	ENST00000422424.2:c.484C>T	16.37:g.66966114G>A	ENSP00000387471:p.Arg162Cys			Missense_Mutation	SNP	pfam_DUF59	p.R162C	ENST00000422424.2	37	c.484	CCDS45506.1	16	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636644	0.47049	.	.	ENSG00000166595	ENST00000422424	.	.	.	5.52	4.56	0.56223	.	0.107325	0.64402	D	0.000008	T	0.45256	0.1333	L	0.34521	1.04	0.80722	D	1	B	0.27594	0.182	B	0.14023	0.01	T	0.47249	-0.9132	9	0.72032	D	0.01	-9.1218	12.509	0.55997	0.0:0.0:0.697:0.303	.	162	Q9Y3D0	MIP18_HUMAN	C	162	.	ENSP00000387471:R162C	R	-	1	0	FAM96B	65523615	1.000000	0.71417	0.965000	0.40720	0.762000	0.43233	2.865000	0.48412	1.551000	0.49450	0.563000	0.77884	CGC	FAM96B	-	NULL		0.557	FAM96B-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	FAM96B	HGNC	protein_coding	OTTHUMT00000429890.1	G	NM_016062		66966114	-1	no_errors	ENST00000422424	ensembl	human	known	70_37	missense	SNP	0.980	A
FBLN1	2192	genome.wustl.edu	37	22	45996325	45996325	+	Nonstop_Mutation	SNP	G	G	C			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr22:45996325G>C	ENST00000327858.6	+	17	2206	c.2111G>C	c.(2110-2112)tGa>tCa	p.*704S	FBLN1_ENST00000348697.2_Nonstop_Mutation_p.*704S	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	0					embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TACTGGTTCTGAGGGCTGGTC	0.532																																																	0													167.0	147.0	154.0					22																	45996325		2203	4300	6503	SO:0001578	stop_lost	2192				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.2111G>C	22.37:g.45996325G>C	ENSP00000331544:p.*704Serext*38		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Nonstop_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.*704S	ENST00000327858.6	37	c.2111	CCDS14067.1	22	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702036	0.48307	.	.	ENSG00000077942	ENST00000348697;ENST00000327858	.	.	.	5.49	3.4	0.38934	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7996	0.40755	0.197:0.0:0.803:0.0	.	.	.	.	S	704	.	.	X	+	2	2	FBLN1	44374989	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.208000	0.42797	2.576000	0.86940	0.591000	0.81541	TGA	FBLN1	-	NULL		0.532	FBLN1-001	KNOWN	basic|CCDS	protein_coding	FBLN1	HGNC	protein_coding	OTTHUMT00000322287.1	G	NM_006486		45996325	+1	no_errors	ENST00000327858	ensembl	human	known	70_37	nonstop	SNP	1.000	C
FBXL18	80028	genome.wustl.edu	37	7	5541259	5541259	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr7:5541259G>A	ENST00000382368.3	-	3	764	c.641C>T	c.(640-642)tCg>tTg	p.S214L	FBXL18_ENST00000453700.3_Missense_Mutation_p.S214L	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	214									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		AAGCTGGCCCGAGAGGATGGC	0.642																																																	0													26.0	32.0	30.0					7																	5541259		2044	4189	6233	SO:0001583	missense	80028			AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.641C>T	7.37:g.5541259G>A	ENSP00000371805:p.Ser214Leu		Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.S214L	ENST00000382368.3	37	c.641	CCDS43546.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.012500|4.012500	0.75161|0.75161	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000458142|ENST00000382368;ENST00000312577;ENST00000453700	.|T;T	.|0.56941	.|0.48;0.43	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.166079	.|0.53938	.|D	.|0.000049	T|T	0.56202|0.56202	0.1969|0.1969	N|N	0.24115|0.24115	0.695|0.695	0.45284|0.45284	D|D	0.998283|0.998283	.|D;D	.|0.71674	.|0.998;0.996	.|P;P	.|0.56788	.|0.806;0.806	T|T	0.60964|0.60964	-0.7158|-0.7158	5|10	.|0.66056	.|D	.|0.02	.|.	18.1629|18.1629	0.89716|0.89716	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|214;214	.|F5H4Z4;Q96ME1-4	.|.;.	W|L	98|214	.|ENSP00000371805:S214L;ENSP00000444797:S214L	.|ENSP00000311990:S214L	R|S	-|-	1|2	2|0	FBXL18|FBXL18	5507785|5507785	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	6.082000|6.082000	0.71318|0.71318	2.528000|2.528000	0.85240|0.85240	0.655000|0.655000	0.94253|0.94253	CGG|TCG	FBXL18	-	NULL		0.642	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL18	HGNC	protein_coding	OTTHUMT00000324093.1	G	NM_024963		5541259	-1	no_errors	ENST00000453700	ensembl	human	known	70_37	missense	SNP	0.995	A
FBXL8	55336	genome.wustl.edu	37	16	67197223	67197223	+	Missense_Mutation	SNP	G	G	C	rs375713237		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr16:67197223G>C	ENST00000258200.3	+	3	802	c.625G>C	c.(625-627)Gaa>Caa	p.E209Q	HSF4_ENST00000584272.1_5'Flank|HSF4_ENST00000421453.1_5'Flank|FBXL8_ENST00000519917.1_Missense_Mutation_p.E209Q|RP11-5A19.5_ENST00000518227.1_5'Flank|HSF4_ENST00000521374.1_5'Flank|HSF4_ENST00000264009.8_5'Flank			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	209										endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		CGCCATCCTCGAAGCACTGGC	0.711																																																	0													6.0	6.0	6.0					16																	67197223		2130	4176	6306	SO:0001583	missense	55336			AK002140	CCDS10831.1	16q22.1-q22.3	2013-01-22			ENSG00000135722	ENSG00000135722		"""F-boxes / Leucine-rich repeats"""	17875	protein-coding gene	gene with protein product		609077					Standard	NM_018378		Approved	Fbl8	uc002erk.1	Q96CD0	OTTHUMG00000137514	ENST00000258200.3:c.625G>C	16.37:g.67197223G>C	ENSP00000258200:p.Glu209Gln		Q9NUM0	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.E209Q	ENST00000258200.3	37	c.625	CCDS10831.1	16	.	.	.	.	.	.	.	.	.	.	G	0.330	-0.956783	0.02267	.	.	ENSG00000135722	ENST00000258200;ENST00000519917	.	.	.	4.4	2.35	0.29111	.	0.559213	0.15891	N	0.239564	T	0.26882	0.0658	L	0.33485	1.01	0.09310	N	0.999995	B	0.10296	0.003	B	0.08055	0.003	T	0.23940	-1.0174	9	0.12430	T	0.62	-6.6224	8.0835	0.30758	0.0931:0.5193:0.3876:0.0	.	209	Q96CD0	FBXL8_HUMAN	Q	209	.	ENSP00000258200:E209Q	E	+	1	0	FBXL8	65754724	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	0.667000	0.25112	0.445000	0.26639	0.462000	0.41574	GAA	FBXL8	-	NULL		0.711	FBXL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL8	HGNC	protein_coding	OTTHUMT00000268834.2	G			67197223	+1	no_errors	ENST00000258200	ensembl	human	known	70_37	missense	SNP	0.000	C
FLOT2	2319	genome.wustl.edu	37	17	27209040	27209040	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:27209040C>T	ENST00000394908.4	-	8	810	c.706G>A	c.(706-708)Gag>Aag	p.E236K	FLOT2_ENST00000394906.2_Missense_Mutation_p.E291K|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Missense_Mutation_p.E236K	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	236					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AACTGGGCCTCAGCTGTCTGT	0.572																																																	0													39.0	40.0	40.0					17																	27209040		2063	4202	6265	SO:0001583	missense	2319			M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.706G>A	17.37:g.27209040C>T	ENSP00000378368:p.Glu236Lys			Missense_Mutation	SNP	pfam_Band_7,smart_Band_7	p.E236K	ENST00000394908.4	37	c.706	CCDS11245.2	17	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307950	0.81247	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	T;T	0.33438	1.41;1.41	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.44871	0.1314	M	0.62016	1.91	0.80722	D	1	P	0.47841	0.901	P	0.49953	0.627	T	0.28933	-1.0028	10	0.46703	T	0.11	-33.9965	18.4614	0.90739	0.0:1.0:0.0:0.0	.	236	Q14254	FLOT2_HUMAN	K	291;236	ENSP00000378366:E291K;ENSP00000378368:E236K	ENSP00000378366:E291K	E	-	1	0	FLOT2	24233166	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	7.783000	0.85696	2.622000	0.88805	0.591000	0.81541	GAG	FLOT2	-	smart_Band_7		0.572	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	FLOT2	HGNC	protein_coding	OTTHUMT00000255935.3	C	NM_004475		27209040	-1	no_errors	ENST00000394908	ensembl	human	known	70_37	missense	SNP	1.000	T
FMR1	2332	genome.wustl.edu	37	X	147010263	147010263	+	Silent	SNP	A	A	G	rs201580891|rs368150235		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:147010263A>G	ENST00000370475.4	+	5	485	c.357A>G	c.(355-357)aaA>aaG	p.K119K	FMR1_ENST00000218200.8_Silent_p.K119K|FMR1_ENST00000440235.2_5'Flank|FMR1_ENST00000439526.2_Silent_p.K119K|FMR1_ENST00000370471.3_Silent_p.K119K|FMR1_ENST00000370470.1_Silent_p.K119K|FMR1_ENST00000370477.1_Silent_p.K119K|FMR1_ENST00000334557.6_Silent_p.K119K	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	119					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)					ATCCCAACAAACCTGCCACAA	0.358									Fragile X syndrome																																								0													86.0	82.0	83.0					X																	147010263		2203	4298	6501	SO:0001819	synonymous_variant	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.357A>G	X.37:g.147010263A>G			A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Silent	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1	p.K119	ENST00000370475.4	37	c.357	CCDS14682.1	X																																																																																			FMR1	-	NULL		0.358	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1	HGNC	protein_coding	OTTHUMT00000058655.1	A	NM_002024		147010263	+1	no_errors	ENST00000370475	ensembl	human	known	70_37	silent	SNP	1.000	G
FRAS1	80144	genome.wustl.edu	37	4	79188084	79188084	+	Missense_Mutation	SNP	G	G	A	rs576372683		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr4:79188084G>A	ENST00000325942.6	+	8	1224	c.784G>A	c.(784-786)Gga>Aga	p.G262R	FRAS1_ENST00000264895.6_Missense_Mutation_p.G262R|FRAS1_ENST00000264899.6_Missense_Mutation_p.G262R	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	262	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTGAGATGCGGAAAGGTATT	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		20416	0.0		0.0	False		,,,				2504	0.001																0													51.0	48.0	49.0					4																	79188084		2000	4170	6170	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.784G>A	4.37:g.79188084G>A	ENSP00000326330:p.Gly262Arg		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.G262R	ENST00000325942.6	37	c.784	CCDS54772.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.397|5.397	0.258412|0.258412	0.10239|0.10239	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899;ENST00000380674|ENST00000508900	T;T;T|.	0.70986|.	-0.53;-0.53;-0.53|.	5.34|5.34	2.65|2.65	0.31530|0.31530	.|.	0.687394|.	0.14174|.	N|.	0.336464|.	T|T	0.19765|0.19765	0.0475|0.0475	N|N	0.11756|0.11756	0.17|0.17	0.09310|0.09310	N|N	1|1	B;B|.	0.17852|.	0.024;0.024|.	B;B|.	0.23419|.	0.046;0.017|.	T|T	0.24799|0.24799	-1.0150|-1.0150	10|5	0.33141|.	T|.	0.24|.	.|.	7.7875|7.7875	0.29101|0.29101	0.1405:0.2491:0.6103:0.0|0.1405:0.2491:0.6103:0.0	.|.	262;262|.	E9PHH6;A2RRR8|.	.;.|.	R|Q	262|104	ENSP00000326330:G262R;ENSP00000264895:G262R;ENSP00000264899:G262R|.	ENSP00000264895:G262R|.	G|R	+|+	1|2	0|0	FRAS1|FRAS1	79407108|79407108	0.971000|0.971000	0.33674|0.33674	0.003000|0.003000	0.11579|0.11579	0.005000|0.005000	0.04900|0.04900	2.495000|2.495000	0.45337|0.45337	0.323000|0.323000	0.23307|0.23307	-0.140000|-0.140000	0.14226|0.14226	GGA|CGG	FRAS1	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C		0.502	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	G			79188084	+1	no_errors	ENST00000264895	ensembl	human	known	70_37	missense	SNP	0.147	A
FRMD3	257019	genome.wustl.edu	37	9	85881961	85881961	+	Intron	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr9:85881961C>T	ENST00000304195.3	-	14	1402				FRMD3_ENST00000465485.1_Intron|FRMD3_ENST00000376434.1_Intron|FRMD3_ENST00000328788.1_Silent_p.L44L|FRMD3_ENST00000376438.1_Intron	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AGCCGAGTCTCAGCAGACGAA	0.522																																																	0																																										SO:0001627	intron_variant	257019			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1196-18530G>A	9.37:g.85881961C>T			A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Silent	SNP	NULL	p.L44	ENST00000304195.3	37	c.132	CCDS43840.1	9																																																																																			FRMD3	-	NULL		0.522	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	HGNC	protein_coding	OTTHUMT00000157355.1	C	NM_174938		85881961	-1	no_errors	ENST00000328788	ensembl	human	known	70_37	silent	SNP	1.000	T
FRMPD3	84443	genome.wustl.edu	37	X	106845065	106845065	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:106845065G>A	ENST00000276185.4	+	16	3895	c.3895G>A	c.(3895-3897)Gag>Aag	p.E1299K				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1299						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GCCAGGCACCGAGTACCTGCA	0.627																																																	0													23.0	24.0	24.0					X																	106845065		876	1990	2866	SO:0001583	missense	84443			AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.3895G>A	X.37:g.106845065G>A	ENSP00000276185:p.Glu1299Lys		Q96JK8	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.E1299K	ENST00000276185.4	37	c.3895		X	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340047	0.60963	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.17854	2.25;2.25	3.95	3.95	0.45737	.	0.081034	0.49916	D	0.000133	T	0.16981	0.0408	N	0.24115	0.695	0.24658	N	0.993488	.	.	.	.	.	.	T	0.11717	-1.0576	8	0.46703	T	0.11	.	14.3825	0.66921	0.0:0.0:1.0:0.0	.	.	.	.	K	1299;1247	ENSP00000276185:E1299K;ENSP00000398668:E1247K	ENSP00000276185:E1299K	E	+	1	0	FRMPD3	106731721	1.000000	0.71417	0.868000	0.34077	0.945000	0.59286	7.325000	0.79124	1.822000	0.53115	0.431000	0.28591	GAG	FRMPD3	-	NULL		0.627	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	FRMPD3	HGNC	protein_coding		G	XM_042978		106845065	+1	no_errors	ENST00000276185	ensembl	human	known	70_37	missense	SNP	0.998	A
FZD2	2535	genome.wustl.edu	37	17	42635857	42635857	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:42635857G>C	ENST00000315323.3	+	1	933	c.801G>C	c.(799-801)ttG>ttC	p.L267F		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	267					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCACGTACTTGGTAGACATGC	0.592																																																	0													82.0	77.0	79.0					17																	42635857		2203	4300	6503	SO:0001583	missense	2535			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.801G>C	17.37:g.42635857G>C	ENSP00000323901:p.Leu267Phe		Q0VG82	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.L267F	ENST00000315323.3	37	c.801	CCDS11484.1	17	.	.	.	.	.	.	.	.	.	.	g	14.69	2.610862	0.46527	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.86097	-2.07	4.61	3.63	0.41609	GPCR, family 2-like (1);	0.086715	0.47852	D	0.000214	D	0.87900	0.6294	M	0.83223	2.63	0.49130	D	0.999753	P	0.43477	0.808	P	0.48089	0.566	D	0.87385	0.2359	10	0.66056	D	0.02	.	9.4017	0.38437	0.1839:0.0:0.8161:0.0	.	267	Q14332	FZD2_HUMAN	F	343;267	ENSP00000323901:L267F	ENSP00000323901:L267F	L	+	3	2	FZD2	39991383	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	1.772000	0.38552	0.876000	0.35872	0.561000	0.74099	TTG	FZD2	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled		0.592	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD2	HGNC	protein_coding	OTTHUMT00000457806.1	G	NM_001466		42635857	+1	no_errors	ENST00000315323	ensembl	human	known	70_37	missense	SNP	1.000	C
FZR1	51343	genome.wustl.edu	37	19	3526310	3526310	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr19:3526310G>A	ENST00000395095.3	+	4	313	c.313G>A	c.(313-315)Gag>Aag	p.E105K	FZR1_ENST00000313639.8_Missense_Mutation_p.E105K|FZR1_ENST00000441788.2_Missense_Mutation_p.E105K	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	105					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGGCATCGAGAAGGTGCA	0.682																																																	0													34.0	33.0	33.0					19																	3526310		2190	4293	6483	SO:0001583	missense	51343			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.313G>A	19.37:g.3526310G>A	ENSP00000378529:p.Glu105Lys		O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E105K	ENST00000395095.3	37	c.313	CCDS45916.1	19	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203941	0.58234	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.08546	3.08;3.08;3.08	4.53	3.44	0.39384	.	0.123604	0.56097	D	0.000024	T	0.14485	0.0350	M	0.75777	2.31	0.30429	N	0.777393	B;P;D	0.55800	0.059;0.899;0.973	B;B;P	0.50352	0.016;0.196;0.638	T	0.04723	-1.0931	10	0.06099	T	0.92	-35.7672	13.2807	0.60212	0.0:0.1594:0.8406:0.0	.	105;105;105	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	K	105	ENSP00000410369:E105K;ENSP00000378529:E105K;ENSP00000321800:E105K	ENSP00000321800:E105K	E	+	1	0	FZR1	3477310	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	9.562000	0.98145	2.073000	0.62155	0.561000	0.74099	GAG	FZR1	-	NULL		0.682	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FZR1	HGNC	protein_coding	OTTHUMT00000452869.2	G	NM_016263		3526310	+1	no_errors	ENST00000395095	ensembl	human	known	70_37	missense	SNP	1.000	A
GAST	2520	genome.wustl.edu	37	17	39871753	39871753	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:39871753C>G	ENST00000329402.3	+	2	132	c.65C>G	c.(64-66)tCt>tGt	p.S22C	RNA5SP442_ENST00000365050.1_RNA|JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	22					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TCTGAAGCTTCTTGGAAGCCC	0.597																																																	0													178.0	176.0	177.0					17																	39871753		2203	4300	6503	SO:0001583	missense	2520				CCDS11404.1	17q21.2	2013-02-26	2005-06-14	2005-06-14	ENSG00000184502	ENSG00000184502		"""Endogenous ligands"""	4164	protein-coding gene	gene with protein product	"""preprogastrin"""	137250		GAS			Standard	NM_000805		Approved		uc002hxl.3	P01350	OTTHUMG00000133496	ENST00000329402.3:c.65C>G	17.37:g.39871753C>G	ENSP00000331358:p.Ser22Cys		P78463|P78464	Missense_Mutation	SNP	pfam_Gastrin,smart_Gastrin	p.S22C	ENST00000329402.3	37	c.65	CCDS11404.1	17	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519852	0.44866	.	.	ENSG00000184502	ENST00000329402	T	0.25414	1.8	4.56	3.57	0.40892	Gastrin/cholecystokinin peptide hormone (1);	0.133659	0.34879	N	0.003609	T	0.46521	0.1397	M	0.73962	2.25	0.31167	N	0.703631	D	0.76494	0.999	D	0.71870	0.975	T	0.54430	-0.8295	10	0.66056	D	0.02	-7.8317	9.5189	0.39122	0.2269:0.7731:0.0:0.0	.	22	P01350	GAST_HUMAN	C	22	ENSP00000331358:S22C	ENSP00000331358:S22C	S	+	2	0	GAST	37125279	0.997000	0.39634	0.860000	0.33809	0.479000	0.33129	1.932000	0.40143	1.080000	0.41073	0.655000	0.94253	TCT	GAST	-	pfam_Gastrin		0.597	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAST	HGNC	protein_coding	OTTHUMT00000257409.1	C			39871753	+1	no_errors	ENST00000329402	ensembl	human	known	70_37	missense	SNP	0.875	G
GNAS	2778	genome.wustl.edu	37	20	57485827	57485827	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr20:57485827C>G	ENST00000371085.3	+	13	1552	c.1128C>G	c.(1126-1128)ttC>ttG	p.F376L	GNAS_ENST00000354359.7_Missense_Mutation_p.F377L|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.F1005L|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.F1019L|GNAS_ENST00000371095.3_Missense_Mutation_p.F362L|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.F362L|GNAS_ENST00000265620.7_Missense_Mutation_p.F361L	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	376					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCGTGTGTTCAACGACTGCC	0.517			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	0													165.0	112.0	130.0					20																	57485827		2203	4300	6503	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.1128C>G	20.37:g.57485827C>G	ENSP00000360126:p.Phe376Leu		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.F377L	ENST00000371085.3	37	c.1131	CCDS13472.1	20	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643892	0.87859	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090;ENST00000371082	D;D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.93739	0.7999	M	0.77406	2.37	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.94030	0.7300	10	0.87932	D	0	.	12.3991	0.55402	0.0:0.9219:0.0:0.0781	.	376;377;361;1019	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	L	1019;1005;362;376;377;361;362;142	ENSP00000360141:F1019L;ENSP00000360143:F1005L;ENSP00000360136:F362L;ENSP00000360126:F376L;ENSP00000346328:F377L;ENSP00000265620:F361L;ENSP00000304472:F362L	ENSP00000265620:F361L	F	+	3	2	GNAS	56919222	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.717000	0.54911	2.567000	0.86603	0.467000	0.42956	TTC	GNAS	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su		0.517	GNAS-015	KNOWN	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080431.2	C	NM_000516		57485827	+1	no_errors	ENST00000354359	ensembl	human	known	70_37	missense	SNP	1.000	G
GNL2	29889	genome.wustl.edu	37	1	38032562	38032562	+	Missense_Mutation	SNP	C	C	T	rs374278862		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:38032562C>T	ENST00000373062.3	-	16	2188	c.2090G>A	c.(2089-2091)cGc>cAc	p.R697H	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	697					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TTCATAGTAGCGCACACCAAC	0.403																																																	0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	194.0	175.0	182.0		2090	5.4	1.0	1		182	0,8600		0,0,4300	no	missense	GNL2	NM_013285.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	697/732	38032562	1,13005	2203	4300	6503	SO:0001583	missense	29889			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.2090G>A	1.37:g.38032562C>T	ENSP00000362153:p.Arg697His		Q9BWN7	Missense_Mutation	SNP	pfam_NOG2_N_dom,pfam_GTP_binding_domain,prints_GTP_binding_domain	p.R697H	ENST00000373062.3	37	c.2090	CCDS421.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675179	0.88445	2.27E-4	0.0	ENSG00000134697	ENST00000373062	T	0.23348	1.91	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.07271	-1.0781	10	0.33141	T	0.24	-9.6294	19.4985	0.95083	0.0:1.0:0.0:0.0	.	697	Q13823	NOG2_HUMAN	H	697	ENSP00000362153:R697H	ENSP00000362153:R697H	R	-	2	0	GNL2	37805149	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	4.748000	0.62148	2.698000	0.92095	0.561000	0.74099	CGC	GNL2	-	NULL		0.403	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL2	HGNC	protein_coding	OTTHUMT00000012478.1	C	NM_013285		38032562	-1	no_errors	ENST00000373062	ensembl	human	known	70_37	missense	SNP	1.000	T
GPR133	283383	genome.wustl.edu	37	12	131471836	131471836	+	Silent	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr12:131471836C>T	ENST00000261654.5	+	6	1246	c.687C>T	c.(685-687)atC>atT	p.I229I	RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Silent_p.I261I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	229					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I229I(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ATGAGTTCATCATCTGGGAGC	0.542																																																	1	Substitution - coding silent(1)	lung(1)											142.0	131.0	135.0					12																	131471836		2203	4300	6503	SO:0001819	synonymous_variant	283383			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.687C>T	12.37:g.131471836C>T			B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.I229	ENST00000261654.5	37	c.687	CCDS9272.1	12																																																																																			GPR133	-	superfamily_ConA-like_lec_gl_sf		0.542	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR133	HGNC	protein_coding	OTTHUMT00000399356.1	C	NM_198827		131471836	+1	no_errors	ENST00000261654	ensembl	human	known	70_37	silent	SNP	1.000	T
GPR78	27201	genome.wustl.edu	37	4	8583012	8583012	+	Silent	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr4:8583012C>T	ENST00000382487.4	+	1	720	c.303C>T	c.(301-303)agC>agT	p.S101S	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	101					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CGGCGCTGAGCGCAGACCAGT	0.721																																																	0													7.0	9.0	8.0					4																	8583012		2156	4225	6381	SO:0001819	synonymous_variant	27201			AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.303C>T	4.37:g.8583012C>T			Q8NGV3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S101	ENST00000382487.4	37	c.303	CCDS3403.1	4																																																																																			GPR78	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.721	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR78	HGNC	protein_coding	OTTHUMT00000359201.1	C			8583012	+1	no_errors	ENST00000382487	ensembl	human	known	70_37	silent	SNP	1.000	T
GRIP2	80852	genome.wustl.edu	37	3	14548392	14548392	+	RNA	SNP	C	C	T	rs374577398		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:14548392C>T	ENST00000273083.3	-	0	2379							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CGGCGAGAAGCGGGCTGCTGG	0.657																																																	0								C	HIS/ARG	0,4036		0,0,2018	17.0	22.0	20.0		2605	2.7	0.1	3		20	1,8333		0,1,4166	no	missense	GRIP2	NM_001080423.2	29	0,1,6184	TT,TC,CC		0.012,0.0,0.0081	benign	869/1141	14548392	1,12369	2018	4167	6185			80852			AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14548392C>T			Q8TEH9|Q9H7H3	RNA	SNP	-	NULL	ENST00000273083.3	37	NULL		3																																																																																			GRIP2	-	-		0.657	GRIP2-001	KNOWN	basic	processed_transcript	GRIP2	HGNC	processed_transcript	OTTHUMT00000340582.2	C	NM_001080423		14548392	-1	no_errors	ENST00000273083	ensembl	human	known	70_37	rna	SNP	0.940	T
GRM5	2915	genome.wustl.edu	37	11	88300848	88300848	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:88300848C>T	ENST00000305447.4	-	7	2152	c.2003G>A	c.(2002-2004)cGt>cAt	p.R668H	GRM5_ENST00000455756.2_Missense_Mutation_p.R668H|GRM5_ENST00000418177.2_Missense_Mutation_p.R668H|GRM5_ENST00000393297.1_Missense_Mutation_p.R668H|GRM5_ENST00000305432.5_Missense_Mutation_p.R668H	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	668					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R668H(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CCTTGCAATACGGTTGGTCTT	0.478																																																	1	Substitution - Missense(1)	large_intestine(1)											174.0	159.0	164.0					11																	88300848		2201	4299	6500	SO:0001583	missense	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2003G>A	11.37:g.88300848C>T	ENSP00000306138:p.Arg668His		Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.R668H	ENST00000305447.4	37	c.2003	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791375	0.90367	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.69	5.71	5.71	0.89125	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96716	0.8928	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.97029	0.9749	9	.	.	.	.	19.8631	0.96790	0.0:1.0:0.0:0.0	.	668;668	P41594-2;P41594	.;GRM5_HUMAN	H	668	ENSP00000402912:R668H;ENSP00000405690:R668H;ENSP00000305905:R668H;ENSP00000306138:R668H;ENSP00000376975:R668H	.	R	-	2	0	GRM5	87940496	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	CGT	GRM5	-	pfam_GPCR_3_C,prints_GPCR_3,pfscan_GPCR_3_C		0.478	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1	C	NM_000842		88300848	-1	no_errors	ENST00000305447	ensembl	human	known	70_37	missense	SNP	1.000	T
HACE1	57531	genome.wustl.edu	37	6	105232900	105232900	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr6:105232900G>A	ENST00000262903.4	-	12	1645	c.1369C>T	c.(1369-1371)Caa>Taa	p.Q457*	HACE1_ENST00000369125.2_Nonsense_Mutation_p.Q457*|HACE1_ENST00000517995.1_5'Flank	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	457					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TAAAAAGCTTGAATGACAGCA	0.408																																																	0													83.0	82.0	83.0					6																	105232900		2203	4300	6503	SO:0001587	stop_gained	57531			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.1369C>T	6.37:g.105232900G>A	ENSP00000262903:p.Gln457*		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Nonsense_Mutation	SNP	pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt	p.Q457*	ENST00000262903.4	37	c.1369	CCDS5050.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.921191	0.97105	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.2333	0.89941	0.0:0.0:1.0:0.0	.	.	.	.	X	457	.	ENSP00000262903:Q457X	Q	-	1	0	HACE1	105339593	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.231000	0.95317	2.380000	0.81148	0.467000	0.42956	CAA	HACE1	-	NULL		0.408	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HACE1	HGNC	protein_coding	OTTHUMT00000041643.2	G	XM_045095		105232900	-1	no_errors	ENST00000262903	ensembl	human	known	70_37	nonsense	SNP	1.000	A
HCLS1	3059	genome.wustl.edu	37	3	121376126	121376126	+	Splice_Site	SNP	T	T	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:121376126T>G	ENST00000314583.3	-	3	249	c.158A>C	c.(157-159)aAc>aCc	p.N53T	RNU4-62P_ENST00000410125.1_RNA|RN7SL172P_ENST00000460535.2_RNA|HCLS1_ENST00000428394.2_Splice_Site_p.N53T	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	53	Involved in HAX-1 binding.				actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CGGCACCTACTTGATGTGTTC	0.517																																																	0													256.0	234.0	241.0					3																	121376126		2203	4300	6503	SO:0001630	splice_region_variant	3059				CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.158+1A>C	3.37:g.121376126T>G			B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.N53T	ENST00000314583.3	37	c.158	CCDS3003.1	3	.	.	.	.	.	.	.	.	.	.	T	16.33	3.094165	0.56075	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.20069	2.1;2.11	4.98	4.98	0.66077	.	0.136223	0.64402	D	0.000002	T	0.27866	0.0686	M	0.77820	2.39	0.45676	D	0.998598	B;P;P	0.41597	0.399;0.675;0.756	B;B;B	0.38842	0.15;0.19;0.283	T	0.16364	-1.0405	10	0.87932	D	0	-22.8129	12.6637	0.56828	0.0:0.0:0.0:1.0	.	53;53;53	B4DTP2;E7EVW7;P14317	.;.;HCLS1_HUMAN	T	53	ENSP00000320176:N53T;ENSP00000387645:N53T	ENSP00000320176:N53T	N	-	2	0	HCLS1	122858816	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.524000	0.45589	2.081000	0.62600	0.533000	0.62120	AAC	HCLS1	-	NULL		0.517	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCLS1	HGNC	protein_coding	OTTHUMT00000355144.1	T	NM_005335	Missense_Mutation	121376126	-1	no_errors	ENST00000314583	ensembl	human	known	70_37	missense	SNP	1.000	G
HERC2P9	440248	genome.wustl.edu	37	15	28913434	28913434	+	RNA	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr15:28913434C>T	ENST00000528584.1	+	0	1256					NR_036443.1				hect domain and RLD 2 pseudogene 9																		GAGAGCCAGACGTACAAAAAC	0.373																																																	0																																												440248			BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28913434C>T				RNA	SNP	-	NULL	ENST00000528584.1	37	NULL		15																																																																																			HERC2P9	-	-		0.373	HERC2P9-002	KNOWN	basic	processed_transcript	HERC2P9	HGNC	pseudogene	OTTHUMT00000393268.1	C	NR_036443		28913434	+1	no_errors	ENST00000528584	ensembl	human	known	70_37	rna	SNP	1.000	T
HMMR	3161	genome.wustl.edu	37	5	162910273	162910273	+	Splice_Site	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr5:162910273G>A	ENST00000358715.3	+	15	1718		c.e15-1		HMMR_ENST00000393915.4_Splice_Site|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000432118.2_Splice_Site|HMMR_ENST00000353866.3_Splice_Site			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	CTTCCATGCAGAAAAGCTGAA	0.308																																																	0													39.0	42.0	41.0					5																	162910273		2178	4284	6462	SO:0001630	splice_region_variant	3161			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1683-1G>A	5.37:g.162910273G>A			A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Splice_Site	SNP	-	e15-1	ENST00000358715.3	37	c.1686-1	CCDS4362.1	5	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970589	0.53614	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1355	0.59407	0.0733:0.0:0.9267:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMMR	162842851	1.000000	0.71417	0.962000	0.40283	0.669000	0.39330	4.222000	0.58580	2.768000	0.95171	0.655000	0.94253	.	HMMR	-	-		0.308	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	HGNC	protein_coding	OTTHUMT00000252752.1	G	NM_012484	Intron	162910273	+1	no_errors	ENST00000393915	ensembl	human	known	70_37	splice_site	SNP	1.000	A
IFT81	28981	genome.wustl.edu	37	12	110565221	110565221	+	Silent	SNP	C	C	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr12:110565221C>G	ENST00000242591.5	+	2	542	c.36C>G	c.(34-36)ctC>ctG	p.L12L	IFT81_ENST00000552912.1_Silent_p.L12L|IFT81_ENST00000361948.4_Silent_p.L12L	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	12	CH (calponin-homology)-like region.				cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TGGACAGTCTCAATAAGGAGC	0.313																																																	0													40.0	39.0	40.0					12																	110565221		2203	4300	6503	SO:0001819	synonymous_variant	28981			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.36C>G	12.37:g.110565221C>G			Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Silent	SNP	NULL	p.L12	ENST00000242591.5	37	c.36	CCDS41831.1	12																																																																																			IFT81	-	NULL		0.313	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IFT81	HGNC	protein_coding	OTTHUMT00000403529.1	C	NM_014055		110565221	+1	no_errors	ENST00000242591	ensembl	human	known	70_37	silent	SNP	1.000	G
IL1R2	7850	genome.wustl.edu	37	2	102626319	102626319	+	Intron	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr2:102626319G>A	ENST00000332549.3	+	3	561				IL1R2_ENST00000441002.1_Intron|IL1R2_ENST00000393414.2_Intron	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II						cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						CTGGGGAGGGGATCCTGGCAG	0.562																																					Pancreas(106;189 1628 2302 5133 12295)												0													51.0	55.0	54.0					2																	102626319		2203	4299	6502	SO:0001627	intron_variant	7850			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.332+31G>A	2.37:g.102626319G>A			D3DVJ5|Q6LCE6|Q9UE68	RNA	SNP	-	NULL	ENST00000332549.3	37	NULL	CCDS2054.1	2																																																																																			IL1R2	-	-		0.562	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1R2	HGNC	protein_coding	OTTHUMT00000253191.1	G	NM_004633		102626319	+1	no_errors	ENST00000464994	ensembl	human	known	70_37	rna	SNP	0.001	A
ILKAP	80895	genome.wustl.edu	37	2	239103498	239103498	+	Silent	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr2:239103498C>T	ENST00000254654.3	-	2	244	c.69G>A	c.(67-69)caG>caA	p.Q23Q	ILKAP_ENST00000490837.1_5'UTR	NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	23					protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GGGGTCCTTTCTGAGCTTCTT	0.498																																																	0													107.0	105.0	106.0					2																	239103498		2203	4300	6503	SO:0001819	synonymous_variant	80895			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.69G>A	2.37:g.239103498C>T			B3KM39	Silent	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.Q23	ENST00000254654.3	37	c.69	CCDS2526.1	2																																																																																			ILKAP	-	NULL		0.498	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILKAP	HGNC	protein_coding	OTTHUMT00000257163.2	C	NM_030768		239103498	-1	no_errors	ENST00000254654	ensembl	human	known	70_37	silent	SNP	0.958	T
ITIH6	347365	genome.wustl.edu	37	X	54784515	54784515	+	Silent	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:54784515C>T	ENST00000218436.6	-	8	2021	c.1992G>A	c.(1990-1992)gtG>gtA	p.V664V		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	664					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										ACTTTGGTTTCACAGGCCTTG	0.527																																																	0													90.0	72.0	78.0					X																	54784515		2203	4300	6503	SO:0001819	synonymous_variant	347365			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1992G>A	X.37:g.54784515C>T			A6NN03	Silent	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.V664	ENST00000218436.6	37	c.1992	CCDS14361.1	X																																																																																			ITIH6	-	NULL		0.527	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH6	HGNC	protein_coding	OTTHUMT00000056814.2	C	NM_198510		54784515	-1	no_errors	ENST00000218436	ensembl	human	known	70_37	silent	SNP	0.000	T
KANK1	23189	genome.wustl.edu	37	9	731244	731244	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr9:731244C>T	ENST00000382303.1	+	9	3635	c.2983C>T	c.(2983-2985)Cag>Tag	p.Q995*	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Nonsense_Mutation_p.Q995*|KANK1_ENST00000382293.3_Nonsense_Mutation_p.Q837*	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	995					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AAAGAATCTTCAGTTTGTTGG	0.408																																																	0													137.0	125.0	129.0					9																	731244		2203	4300	6503	SO:0001587	stop_gained	23189			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2983C>T	9.37:g.731244C>T	ENSP00000371740:p.Gln995*		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q995*	ENST00000382303.1	37	c.2983	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	C	48	13.956691	0.99772	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293	.	.	.	5.53	5.53	0.82687	.	0.000000	0.50627	D	0.000113	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.8143	0.96560	0.0:1.0:0.0:0.0	.	.	.	.	X	995;18;995;837	.	ENSP00000371730:Q837X	Q	+	1	0	KANK1	721244	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.689000	0.84165	2.747000	0.94245	0.650000	0.86243	CAG	KANK1	-	NULL		0.408	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	C	NM_015158		731244	+1	no_errors	ENST00000382297	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KCNQ2	3785	genome.wustl.edu	37	20	62076670	62076670	+	Silent	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr20:62076670G>A	ENST00000359125.2	-	3	609	c.435C>T	c.(433-435)atC>atT	p.I145I	KCNQ2_ENST00000370224.1_Silent_p.I145I|KCNQ2_ENST00000359689.1_Silent_p.I145I|KCNQ2_ENST00000354587.3_Silent_p.I145I|KCNQ2_ENST00000344462.4_Silent_p.I145I|KCNQ2_ENST00000360480.3_Silent_p.I145I|KCNQ2_ENST00000357249.2_Silent_p.I145I|RP11-358D14.2_ENST00000436263.1_RNA|KCNQ2_ENST00000344425.5_Silent_p.I145I	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	145					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CTGCGGCCCAGATCCGCACGA	0.647																																																	0													81.0	76.0	78.0					20																	62076670		2203	4300	6503	SO:0001819	synonymous_variant	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.435C>T	20.37:g.62076670G>A			O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.I145	ENST00000359125.2	37	c.435	CCDS13520.1	20																																																																																			KCNQ2	-	pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl		0.647	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	G	NM_172109		62076670	-1	no_errors	ENST00000354587	ensembl	human	known	70_37	silent	SNP	1.000	A
KDM3B	51780	genome.wustl.edu	37	5	137763729	137763729	+	Silent	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr5:137763729G>A	ENST00000314358.5	+	20	4907	c.4707G>A	c.(4705-4707)gtG>gtA	p.V1569V	KDM3B_ENST00000542866.1_Silent_p.V601V|KDM3B_ENST00000394866.1_Silent_p.V1225V	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1569	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTGTTAATGTGATGGTGTATG	0.423																																																	0													345.0	324.0	331.0					5																	137763729		2203	4300	6503	SO:0001819	synonymous_variant	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4707G>A	5.37:g.137763729G>A			A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.V1569	ENST00000314358.5	37	c.4707	CCDS34242.1	5																																																																																			KDM3B	-	smart_JmjC_dom,pfscan_JmjC_dom		0.423	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	G	NM_016604		137763729	+1	no_errors	ENST00000314358	ensembl	human	known	70_37	silent	SNP	1.000	A
CEP170B	283638	genome.wustl.edu	37	14	105350257	105350257	+	Missense_Mutation	SNP	G	G	A	rs375604191		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr14:105350257G>A	ENST00000414716.3	+	9	1369	c.1141G>A	c.(1141-1143)Ggg>Agg	p.G381R	CEP170B_ENST00000453495.1_Missense_Mutation_p.G382R|CEP170B_ENST00000556508.1_Missense_Mutation_p.G311R|CEP170B_ENST00000418279.1_Missense_Mutation_p.G311R	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	381						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GGAGGCCAGCGGGGAGCAGGT	0.662																																																	0								G	ARG/GLY,ARG/GLY	0,3924		0,0,1962	13.0	17.0	16.0		1141,931	4.1	0.9	14		16	3,8303		0,3,4150	no	missense,missense	KIAA0284	NM_001112726.2,NM_015005.2	125,125	0,3,6112	AA,AG,GG		0.0361,0.0,0.0245	probably-damaging,probably-damaging	381/1555,311/1520	105350257	3,12227	1962	4153	6115	SO:0001583	missense	283638			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.1141G>A	14.37:g.105350257G>A	ENSP00000404151:p.Gly381Arg		Q2KHR7|Q86TI7	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.G382R	ENST00000414716.3	37	c.1144	CCDS45175.1	14	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909223	0.33721	0.0	3.61E-4	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279;ENST00000556215	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	4.12	4.12	0.48240	.	0.664107	0.13586	N	0.376976	T	0.31358	0.0794	L	0.47716	1.5	0.28664	N	0.90595	D;D;D	0.64830	0.994;0.993;0.985	P;P;P	0.56216	0.681;0.794;0.695	T	0.05733	-1.0867	10	0.33940	T	0.23	-18.7774	11.8569	0.52441	0.0:0.0:1.0:0.0	.	381;381;311	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	R	311;381;382;311;101	ENSP00000451249:G311R;ENSP00000404151:G381R;ENSP00000407238:G382R;ENSP00000415006:G311R	ENSP00000404151:G381R	G	+	1	0	KIAA0284	104421302	0.862000	0.29867	0.910000	0.35882	0.247000	0.25773	3.048000	0.49862	1.840000	0.53500	0.491000	0.48974	GGG	KIAA0284	-	NULL		0.662	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0284	HGNC	protein_coding	OTTHUMT00000410289.2	G	NM_001112726		105350257	+1	no_errors	ENST00000453495	ensembl	human	known	70_37	missense	SNP	0.862	A
CEP170B	283638	genome.wustl.edu	37	14	105355912	105355912	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr14:105355912C>T	ENST00000556508.1	+	12	3929	c.3590C>T	c.(3589-3591)tCc>tTc	p.S1197F	CEP170B_ENST00000414716.3_Intron|CEP170B_ENST00000453495.1_Missense_Mutation_p.S1268F|CEP170B_ENST00000418279.1_Intron	NM_015005.2	NP_055820.2	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1267						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GAGTACGGCTCCCGCCACGGC	0.637																																																	0													10.0	13.0	12.0					14																	105355912		1896	4077	5973	SO:0001583	missense	283638			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000556508.1:c.3590C>T	14.37:g.105355912C>T	ENSP00000451249:p.Ser1197Phe		Q2KHR7|Q86TI7	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.S1268F	ENST00000556508.1	37	c.3803	CCDS45176.2	14	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703031	0.88924	.	.	ENSG00000099814	ENST00000556508;ENST00000453495	T;T	0.61158	0.17;0.13	4.28	4.28	0.50868	.	0.294118	0.28279	U	0.015929	T	0.77363	0.4119	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82151	-0.0599	10	0.87932	D	0	-15.6961	16.7212	0.85410	0.0:1.0:0.0:0.0	.	1267	Q9Y4F5	K0284_HUMAN	F	1197;1268	ENSP00000451249:S1197F;ENSP00000407238:S1268F	ENSP00000407238:S1268F	S	+	2	0	KIAA0284	104426957	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.216000	0.77974	1.918000	0.55548	0.423000	0.28283	TCC	KIAA0284	-	NULL		0.637	CEP170B-002	PUTATIVE	basic|CCDS	protein_coding	KIAA0284	HGNC	protein_coding	OTTHUMT00000410288.1	C	NM_001112726		105355912	+1	no_errors	ENST00000453495	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA1109	84162	genome.wustl.edu	37	4	123255617	123255617	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr4:123255617C>T	ENST00000264501.4	+	69	12138	c.11765C>T	c.(11764-11766)tCt>tTt	p.S3922F	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S3922F			Q2LD37	K1109_HUMAN	KIAA1109	3922					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGTGCAACATCTCCTCCTTCT	0.473																																																	0													142.0	143.0	142.0					4																	123255617		2000	4160	6160	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.11765C>T	4.37:g.123255617C>T	ENSP00000264501:p.Ser3922Phe		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.S3922F	ENST00000264501.4	37	c.11765	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	C	15.35	2.809008	0.50421	.	.	ENSG00000138688	ENST00000264501;ENST00000388738	T;T	0.15256	2.44;2.44	5.34	4.5	0.54988	.	0.362631	0.21585	N	0.072188	T	0.12305	0.0299	N	0.22421	0.69	0.80722	D	1	B	0.14438	0.01	B	0.14578	0.011	T	0.05194	-1.0900	10	0.66056	D	0.02	.	9.8704	0.41170	0.0:0.906:0.0:0.094	.	3922	Q2LD37	K1109_HUMAN	F	3922	ENSP00000264501:S3922F;ENSP00000373390:S3922F	ENSP00000264501:S3922F	S	+	2	0	KIAA1109	123475067	1.000000	0.71417	0.948000	0.38648	0.988000	0.76386	3.112000	0.50368	1.389000	0.46526	0.650000	0.86243	TCT	KIAA1109	-	NULL		0.473	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	C	NM_020797		123255617	+1	no_errors	ENST00000264501	ensembl	human	known	70_37	missense	SNP	0.982	T
KIAA1549L	25758	genome.wustl.edu	37	11	33667358	33667358	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:33667358G>A	ENST00000321505.4	+	16	4825	c.4645G>A	c.(4645-4647)Gag>Aag	p.E1549K	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E1555K			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1549						integral component of membrane (GO:0016021)											ATCCATCGACGAGGTCAGGCA	0.637																																																	0													46.0	54.0	52.0					11																	33667358		2159	4245	6404	SO:0001583	missense	25758			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4645G>A	11.37:g.33667358G>A	ENSP00000315295:p.Glu1549Lys		B0QYU0	Missense_Mutation	SNP	NULL	p.E1555K	ENST00000321505.4	37	c.4663	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	G	35	5.534701	0.96460	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000005	D	0.82815	0.5119	M	0.73962	2.25	0.53688	D	0.999977	D	0.89917	1.0	D	0.91635	0.999	D	0.83720	0.0192	9	0.72032	D	0.01	-23.0952	19.8929	0.96937	0.0:0.0:1.0:0.0	.	1555	E9PAT2	.	K	1549;1555;1388	.	ENSP00000315295:E1549K	E	+	1	0	C11orf41	33623934	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.447000	0.97595	2.702000	0.92279	0.462000	0.41574	GAG	KIAA1549L	-	NULL		0.637	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	G	NM_012194		33667358	+1	no_errors	ENST00000389726	ensembl	human	known	70_37	missense	SNP	1.000	A
KIF4B	285643	genome.wustl.edu	37	5	154394755	154394755	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr5:154394755G>T	ENST00000435029.4	+	1	1496	c.1336G>T	c.(1336-1338)Gat>Tat	p.D446Y		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	446					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTGCAAGCTGGATCTTCAAAA	0.438																																																	0													88.0	90.0	89.0					5																	154394755		2203	4300	6503	SO:0001583	missense	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1336G>T	5.37:g.154394755G>T	ENSP00000387875:p.Asp446Tyr			Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D446Y	ENST00000435029.4	37	c.1336	CCDS47324.1	5	.	.	.	.	.	.	.	.	.	.	g	10.31	1.314649	0.23908	.	.	ENSG00000226650	ENST00000435029	T	0.70516	-0.49	2.12	0.0984	0.14498	.	.	.	.	.	T	0.68329	0.2989	M	0.74647	2.275	0.58432	D	0.999994	P	0.40398	0.716	B	0.43386	0.418	T	0.64402	-0.6416	9	0.72032	D	0.01	.	5.335	0.15953	0.1398:0.2067:0.6536:0.0	.	446	Q2VIQ3	KIF4B_HUMAN	Y	446	ENSP00000387875:D446Y	ENSP00000387875:D446Y	D	+	1	0	KIF4B	154374948	0.933000	0.31639	0.975000	0.42487	0.679000	0.39708	1.013000	0.29937	-0.168000	0.10853	-1.509000	0.00949	GAT	KIF4B	-	NULL		0.438	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1	G			154394755	+1	no_errors	ENST00000435029	ensembl	human	known	70_37	missense	SNP	0.999	T
KLK2	3817	genome.wustl.edu	37	19	51380253	51380253	+	Missense_Mutation	SNP	G	G	A	rs536878458		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr19:51380253G>A	ENST00000325321.3	+	4	844	c.619G>A	c.(619-621)Gac>Aac	p.D207N	KLK2_ENST00000391810.2_Missense_Mutation_p.D105N|AC037199.1_ENST00000594218.1_5'Flank|KLK2_ENST00000358049.4_Missense_Mutation_p.D207N			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	207	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		AGGTGGTAAAGACACTTGTGG	0.502			T	ETV4	prostate								G|||	1	0.000199681	0.0	0.0	5008	,	,		19568	0.001		0.0	False		,,,				2504	0.0							Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	0													226.0	196.0	206.0					19																	51380253		2203	4300	6503	SO:0001583	missense	3817			M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.619G>A	19.37:g.51380253G>A	ENSP00000313581:p.Asp207Asn		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D207N	ENST00000325321.3	37	c.619	CCDS12808.1	19	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207853	0.58343	.	.	ENSG00000167751	ENST00000325321;ENST00000358049;ENST00000391810	T;T;T	0.09538	2.97;2.97;2.97	2.84	1.7	0.24286	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.40469	N	0.001087	T	0.22627	0.0546	M	0.72479	2.2	0.24006	N	0.996199	D;D;P	0.69078	0.97;0.997;0.86	P;P;P	0.59171	0.849;0.853;0.541	T	0.03403	-1.1040	10	0.66056	D	0.02	.	8.1428	0.31093	0.135:0.0:0.865:0.0	.	190;207;207	B4DU77;P20151-2;P20151	.;.;KLK2_HUMAN	N	207;207;105	ENSP00000313581:D207N;ENSP00000350748:D207N;ENSP00000375686:D105N	ENSP00000313581:D207N	D	+	1	0	KLK2	56072065	0.994000	0.37717	0.004000	0.12327	0.181000	0.23173	2.556000	0.45862	0.269000	0.21961	0.305000	0.20034	GAC	KLK2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.502	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK2	HGNC	protein_coding	OTTHUMT00000464438.3	G	NM_005551.3		51380253	+1	no_errors	ENST00000325321	ensembl	human	known	70_37	missense	SNP	1.000	A
KRT5	3852	genome.wustl.edu	37	12	52914024	52914024	+	Silent	SNP	G	G	A	rs529397720		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr12:52914024G>A	ENST00000252242.4	-	1	447	c.57C>T	c.(55-57)acC>acT	p.T19T		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	19	Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGCAGAGGCGGTGCTGAAGC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		16268	0.0		0.0	False		,,,				2504	0.001																0													23.0	28.0	26.0					12																	52914024		2201	4300	6501	SO:0001819	synonymous_variant	3852				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.57C>T	12.37:g.52914024G>A			Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.T19	ENST00000252242.4	37	c.57	CCDS8830.1	12																																																																																			KRT5	-	NULL		0.657	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT5	HGNC	protein_coding	OTTHUMT00000405312.1	G			52914024	-1	no_errors	ENST00000252242	ensembl	human	known	70_37	silent	SNP	0.000	A
LAMC3	10319	genome.wustl.edu	37	9	133924412	133924412	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr9:133924412G>A	ENST00000361069.4	+	9	1658	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	509	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				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)		TCTAGGAGCCGAAGGCTGGTG	0.667																																																	0													20.0	22.0	21.0					9																	133924412		2091	4083	6174	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.1525G>A	9.37:g.133924412G>A	ENSP00000354360:p.Glu509Lys		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.E509K	ENST00000361069.4	37	c.1525	CCDS6938.1	9	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087390	0.36855	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.29397	1.57	4.78	2.95	0.34219	Laminin B type IV (1);	0.566112	0.20245	N	0.096213	T	0.24084	0.0583	L	0.51422	1.61	0.09310	N	1	B	0.28783	0.222	B	0.23419	0.046	T	0.13045	-1.0524	10	0.32370	T	0.25	.	7.8284	0.29328	0.1887:0.0:0.8113:0.0	.	509	Q9Y6N6	LAMC3_HUMAN	K	509	ENSP00000354360:E509K	ENSP00000347156:E509K	E	+	1	0	LAMC3	132914233	0.000000	0.05858	0.001000	0.08648	0.884000	0.51177	0.409000	0.21082	0.758000	0.33059	-0.232000	0.12228	GAA	LAMC3	-	pfscan_Laminin_B_type_IV		0.667	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3	G	NM_006059		133924412	+1	no_errors	ENST00000361069	ensembl	human	known	70_37	missense	SNP	0.002	A
LIMD1	8994	genome.wustl.edu	37	3	45637138	45637138	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:45637138G>A	ENST00000273317.4	+	1	788	c.767G>A	c.(766-768)aGc>aAc	p.S256N	LIMD1_ENST00000440097.1_Missense_Mutation_p.S256N|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	256	Interaction with EGLN1/PHD2.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GGCCGCAGCAGCGAGAAGCCA	0.627																																																	0													58.0	64.0	62.0					3																	45637138		2203	4300	6503	SO:0001583	missense	8994			AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.767G>A	3.37:g.45637138G>A	ENSP00000273317:p.Ser256Asn		Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S256N	ENST00000273317.4	37	c.767	CCDS2729.1	3	.	.	.	.	.	.	.	.	.	.	G	7.909	0.736131	0.15574	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.58797	0.31;0.52	4.83	-4.69	0.03299	.	2.796360	0.00721	N	0.000892	T	0.32071	0.0817	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05178	-1.0901	10	0.31617	T	0.26	.	0.2269	0.00175	0.3402:0.2286:0.2014:0.2298	.	256	Q9UGP4	LIMD1_HUMAN	N	256	ENSP00000394537:S256N;ENSP00000273317:S256N	ENSP00000273317:S256N	S	+	2	0	LIMD1	45612142	0.000000	0.05858	0.000000	0.03702	0.434000	0.31775	-0.345000	0.07770	-0.841000	0.04200	-0.268000	0.10319	AGC	LIMD1	-	NULL		0.627	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMD1	HGNC	protein_coding	OTTHUMT00000257327.1	G	NM_014240		45637138	+1	no_errors	ENST00000273317	ensembl	human	known	70_37	missense	SNP	0.000	A
LIN7C	55327	genome.wustl.edu	37	11	27520959	27520959	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:27520959C>G	ENST00000278193.2	-	4	405	c.385G>C	c.(385-387)Gat>Cat	p.D129H	LIN7C_ENST00000524596.1_Missense_Mutation_p.D105H	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C (C. elegans)	129	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				exocytosis (GO:0006887)|morphogenesis of an epithelial sheet (GO:0002011)|neurotransmitter secretion (GO:0007269)|protein transport (GO:0015031)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|MPP7-DLG1-LIN7 complex (GO:0097025)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|L27 domain binding (GO:0097016)|protein domain specific binding (GO:0019904)	p.D129N(1)		endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCATGTCTATCAGCAATTCCA	0.413																																																	1	Substitution - Missense(1)	lung(1)											131.0	128.0	129.0					11																	27520959		2202	4299	6501	SO:0001583	missense	55327			AK002077	CCDS7864.1	11p14	2008-07-18				ENSG00000148943			17789	protein-coding gene	gene with protein product	"""LIN-7 protein 3"""	612332				10341223	Standard	NM_018362		Approved	MALS-3, Lin7c, LIN-7C, LIN-7-C, VELI3, FLJ11215	uc001mrl.3	Q9NUP9		ENST00000278193.2:c.385G>C	11.37:g.27520959C>G	ENSP00000278193:p.Asp129His			Missense_Mutation	SNP	pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ	p.D129H	ENST00000278193.2	37	c.385	CCDS7864.1	11	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873587	0.72180	.	.	ENSG00000148943	ENST00000278193;ENST00000524596	T;T	0.27890	1.64;1.64	6.01	6.01	0.97437	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	L	0.41492	1.28	0.80722	D	1	B;B	0.22080	0.005;0.064	B;B	0.32724	0.019;0.151	T	0.11616	-1.0580	10	0.72032	D	0.01	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	105;129	G3V1D4;Q9NUP9	.;LIN7C_HUMAN	H	129;105	ENSP00000278193:D129H;ENSP00000435353:D105H	ENSP00000278193:D129H	D	-	1	0	LIN7C	27477535	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.861000	0.98227	0.650000	0.86243	GAT	LIN7C	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_Lin-7_homologue,pfscan_PDZ		0.413	LIN7C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN7C	HGNC	protein_coding	OTTHUMT00000388311.2	C	NM_018362		27520959	-1	no_errors	ENST00000278193	ensembl	human	known	70_37	missense	SNP	1.000	G
LINC00304	283860	genome.wustl.edu	37	16	89226822	89226822	+	lincRNA	SNP	G	G	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr16:89226822G>T	ENST00000321214.2	+	0	544					NR_024347.2		Q8N9R0	CP081_HUMAN	long intergenic non-protein coding RNA 304																		TTCCTCACCCGAAGACCCCCC	0.672																																																	0																																												283860			AK094020		16q24.3	2012-11-19	2011-08-10	2011-08-10	ENSG00000180422	ENSG00000180422		"""Long non-coding RNAs"""	26713	non-coding RNA	RNA, long non-coding			"""chromosome 16 open reading frame 81"", ""non-protein coding RNA 304"""	C16orf81, NCRNA00304			Standard	NR_024347		Approved	FLJ36701	uc002fms.3	Q8N9R0	OTTHUMG00000175524		16.37:g.89226822G>T				RNA	SNP	-	NULL	ENST00000321214.2	37	NULL		16																																																																																			LINC00304	-	-		0.672	LINC00304-001	KNOWN	basic	lincRNA	LINC00304	HGNC	lincRNA	OTTHUMT00000430368.1	G	NR_024347		89226822	+1	no_errors	ENST00000321214	ensembl	human	known	70_37	rna	SNP	0.401	T
UGT1A6	54578	genome.wustl.edu	37	2	234663731	234663731	+	Intron	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr2:234663731C>T	ENST00000305139.6	+	2	1000				UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|AC114812.5_ENST00000450901.1_RNA|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000480628.1_3'UTR|UGT1A3_ENST00000482026.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	ATAGATATCGCGTTTCTACGC	0.617																																																	0																																										SO:0001627	intron_variant	100286922			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-11949C>T	2.37:g.234663731C>T			A6NKK6|B8K289|Q96TE7	RNA	SNP	-	NULL	ENST00000305139.6	37	NULL	CCDS2507.1	2																																																																																			AC114812.5	-	-		0.617	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100286922	Clone_based_vega_gene	protein_coding	OTTHUMT00000130988.1	C	NM_205862		234663731	-1	no_errors	ENST00000389816	ensembl	human	known	70_37	rna	SNP	0.234	T
YWHAEP7	284100	genome.wustl.edu	37	17	36233893	36233893	+	RNA	SNP	C	C	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:36233893C>A	ENST00000590732.1	-	0	146					NR_024178.1																						GCAAATTGTACCTCCGGAATA	0.323																																																	0																																												284100																															17.37:g.36233893C>A				RNA	SNP	-	NULL	ENST00000590732.1	37	NULL		17																																																																																			RP11-115K3.2	-	-		0.323	RP11-115K3.2-002	KNOWN	basic	processed_transcript	LOC284100	Clone_based_vega_gene	pseudogene	OTTHUMT00000451947.1	C			36233893	-1	no_errors	ENST00000590732	ensembl	human	known	70_37	rna	SNP	1.000	A
LRRC17	10234	genome.wustl.edu	37	7	102553460	102553460	+	5'UTR	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr7:102553460G>A	ENST00000339431.4	+	0	23				LRRC17_ENST00000249377.4_5'UTR|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17						bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						AGTATAACGTGAGGGCTGAAT	0.493																																																	0																																										SO:0001623	5_prime_UTR_variant	10234			U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.-273G>A	7.37:g.102553460G>A			Q13288|Q6UWA7|Q75MG5	RNA	SNP	-	NULL	ENST00000339431.4	37	NULL	CCDS34721.1	7																																																																																			LRRC17	-	-		0.493	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC17	HGNC	protein_coding	OTTHUMT00000347930.1	G	NM_005824		102553460	+1	no_errors	ENST00000498487	ensembl	human	putative	70_37	rna	SNP	1.000	A
MAGEL2	54551	genome.wustl.edu	37	15	23890640	23890640	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr15:23890640C>T	ENST00000532292.1	-	1	535	c.441G>A	c.(439-441)atG>atA	p.M147I		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	30					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CAGCAAAGATCATGCGGTCTT	0.597																																																	0													35.0	39.0	38.0					15																	23890640		1983	4152	6135	SO:0001583	missense	54551			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.441G>A	15.37:g.23890640C>T	ENSP00000433433:p.Met147Ile			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.M147I	ENST00000532292.1	37	c.441		15																																																																																			MAGEL2	-	NULL		0.597	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	C	NM_019066		23890640	-1	no_errors	ENST00000532292	ensembl	human	known	70_37	missense	SNP	0.998	T
MAL2	114569	genome.wustl.edu	37	8	120252534	120252534	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:120252534C>T	ENST00000276681.6	+	4	535	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	145	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			GAGTGATAACCAGTATAACAT	0.453																																																	0													55.0	54.0	54.0					8																	120252534		1917	4137	6054	SO:0001587	stop_gained	114569			AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"""MAL proteolipid protein 2"""	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.433C>T	8.37:g.120252534C>T	ENSP00000475434:p.Gln145*		B2R520|Q6ZMD9	RNA	SNP	-	NULL	ENST00000276681.6	37	NULL		8																																																																																			MAL2	-	-		0.453	MAL2-201	KNOWN	basic|appris_principal	protein_coding	MAL2	HGNC	protein_coding		C	NM_052886		120252534	+1	no_errors	ENST00000276681	ensembl	human	known	70_37	rna	SNP	1.000	T
MASP1	5648	genome.wustl.edu	37	3	186978566	186978566	+	Silent	SNP	G	G	A	rs553549384	byFrequency	TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:186978566G>A	ENST00000337774.5	-	4	899	c.510C>T	c.(508-510)ttC>ttT	p.F170F	MASP1_ENST00000169293.6_Silent_p.F170F|MASP1_ENST00000296280.6_Silent_p.F170F|MASP1_ENST00000392470.2_Silent_p.F144F|MASP1_ENST00000392472.2_Silent_p.F57F|MASP1_ENST00000495249.1_Intron	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	170	EGF-like; calcium-binding.|Homodimerization. {ECO:0000250}.|Interaction with FCN2.|Interaction with MBL2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GGATGTAGCCGAAGCGGCAGG	0.527													G|||	5	0.000998403	0.0	0.0	5008	,	,		18092	0.0		0.0	False		,,,				2504	0.0051																0													148.0	109.0	123.0					3																	186978566		2203	4300	6503	SO:0001819	synonymous_variant	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.510C>T	3.37:g.186978566G>A			A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.F170	ENST00000337774.5	37	c.510	CCDS33907.1	3																																																																																			MASP1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd		0.527	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	G	NM_001879		186978566	-1	no_errors	ENST00000296280	ensembl	human	known	70_37	silent	SNP	0.986	A
MASTL	84930	genome.wustl.edu	37	10	27459156	27459156	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr10:27459156C>T	ENST00000375940.4	+	8	1325	c.1268C>T	c.(1267-1269)tCa>tTa	p.S423L	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375946.4_Missense_Mutation_p.S423L|MASTL_ENST00000342386.6_Missense_Mutation_p.S423L			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	423	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCCATCAGTCAAATCAGTGG	0.388																																																	0													68.0	73.0	72.0					10																	27459156		2203	4300	6503	SO:0001583	missense	84930			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1268C>T	10.37:g.27459156C>T	ENSP00000365107:p.Ser423Leu		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S423L	ENST00000375940.4	37	c.1268	CCDS53502.1	10	.	.	.	.	.	.	.	.	.	.	C	5.150	0.213237	0.09757	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.79554	-1.28;-1.28;-1.28	5.93	4.1	0.47936	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.824143	0.11449	N	0.562957	T	0.79353	0.4431	M	0.69823	2.125	0.09310	N	1	B;B;B	0.19073	0.033;0.019;0.007	B;B;B	0.19391	0.025;0.012;0.006	T	0.69672	-0.5082	10	0.59425	D	0.04	-1.3645	9.3898	0.38365	0.0:0.8358:0.0:0.1642	.	423;423;423	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	L	423	ENSP00000365113:S423L;ENSP00000343446:S423L;ENSP00000365107:S423L	ENSP00000343446:S423L	S	+	2	0	MASTL	27499162	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.780000	0.26760	0.844000	0.35094	-0.140000	0.14226	TCA	MASTL	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.388	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MASTL	HGNC	protein_coding	OTTHUMT00000047320.1	C	NM_032844		27459156	+1	no_errors	ENST00000375940	ensembl	human	known	70_37	missense	SNP	0.002	T
MATN1	4146	genome.wustl.edu	37	1	31194483	31194483	+	Silent	SNP	C	C	T	rs139060426	byFrequency	TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:31194483C>T	ENST00000373765.4	-	2	245	c.210G>A	c.(208-210)tcG>tcA	p.S70S	MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1_ENST00000477320.1_5'Flank|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	70	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		CCACGTCCAGCGACTCGATGA	0.602													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20401	0.0		0.0	False		,,,				2504	0.0																0								C		1,4405	2.1+/-5.4	0,1,2202	73.0	79.0	77.0		210	-9.2	0.5	1	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	MATN1	NM_002379.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		70/497	31194483	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4146			M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.210G>A	1.37:g.31194483C>T			B2R7E3|Q5TBB9	Silent	SNP	pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_VWF_A	p.S70	ENST00000373765.4	37	c.210	CCDS336.1	1																																																																																			MATN1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.602	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MATN1	HGNC	protein_coding	OTTHUMT00000010458.1	C	NM_002379		31194483	-1	no_errors	ENST00000373765	ensembl	human	known	70_37	silent	SNP	0.016	T
MBTPS1	8720	genome.wustl.edu	37	16	84102009	84102009	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr16:84102009C>T	ENST00000343411.3	-	15	2501	c.2006G>A	c.(2005-2007)aGa>aAa	p.R669K	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	669					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCCCATGCTTCTCAGATGCTG	0.468																																																	0													122.0	117.0	119.0					16																	84102009		2200	4300	6500	SO:0001583	missense	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2006G>A	16.37:g.84102009C>T	ENSP00000344223:p.Arg669Lys		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.R669K	ENST00000343411.3	37	c.2006	CCDS10941.1	16	.	.	.	.	.	.	.	.	.	.	C	37	6.006682	0.97195	.	.	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.36520	1.25	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	M	0.84433	2.695	0.80722	D	1	D	0.76494	0.999	D	0.68039	0.955	T	0.70741	-0.4789	10	0.72032	D	0.01	-17.463	19.4403	0.94817	0.0:1.0:0.0:0.0	.	669	Q14703	MBTP1_HUMAN	K	669;114	ENSP00000344223:R669K	ENSP00000344223:R669K	R	-	2	0	MBTPS1	82659510	1.000000	0.71417	0.971000	0.41717	0.978000	0.69477	7.736000	0.84948	2.586000	0.87340	0.561000	0.74099	AGA	MBTPS1	-	NULL		0.468	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2	C	NM_003791		84102009	-1	no_errors	ENST00000343411	ensembl	human	known	70_37	missense	SNP	1.000	T
MCHR1	2847	genome.wustl.edu	37	22	41077812	41077812	+	Silent	SNP	C	C	T	rs199767344		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr22:41077812C>T	ENST00000249016.4	+	2	1845	c.1149C>T	c.(1147-1149)ctC>ctT	p.L383L	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Silent_p.L257L	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	383					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						ACATCGTGCTCTGTGAGACGT	0.592																																																	0													126.0	99.0	108.0					22																	41077812		2203	4300	6503	SO:0001819	synonymous_variant	2847				CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.1149C>T	22.37:g.41077812C>T			B2RBX6|Q5R3J1|Q96S47|Q9BV08	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn	p.L383	ENST00000249016.4	37	c.1149	CCDS14004.1	22																																																																																			MCHR1	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn		0.592	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR1	HGNC	protein_coding	OTTHUMT00000317142.1	C	NM_005297		41077812	+1	no_errors	ENST00000249016	ensembl	human	known	70_37	silent	SNP	1.000	T
NR2F2	7026	genome.wustl.edu	37	15	96876510	96876510	+	Intron	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr15:96876510C>T	ENST00000394166.3	+	1	1831				NR2F2_ENST00000453270.2_5'UTR|MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000421109.2_Intron|NR2F2_ENST00000394171.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2						anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GGCGCGGGCTCCGGGTTGGGG	0.662																																																	0													18.0	18.0	18.0					15																	96876510		686	1589	2275	SO:0001627	intron_variant	100302258			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.442+734C>T	15.37:g.96876510C>T			B4DQJ2|B6ZGU1|Q03754|Q3KQR7	RNA	SNP	-	NULL	ENST00000394166.3	37	NULL	CCDS10375.1	15																																																																																			MIR1469	-	-		0.662	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR1469	HGNC	protein_coding	OTTHUMT00000313534.1	C			96876510	+1	no_errors	ENST00000410719	ensembl	human	known	70_37	rna	SNP	1.000	T
MIR892A	100126342	genome.wustl.edu	37	X	145075803	145075803	+	RNA	SNP	T	T	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:145075803T>G	ENST00000401124.1	-	0	75				MIR888_ENST00000401186.1_RNA|MIR892B_ENST00000401279.1_RNA|MIR890_ENST00000401256.1_RNA|hsa-mir-892c_ENST00000516410.1_RNA	NR_030584.1				microRNA 892a																		TAAGACTTACTCTACTCAGAA	0.473																																																	0													158.0	129.0	138.0					X																	145075803		1568	3582	5150			100126303					Xq27.3	2011-09-12		2008-12-18	ENSG00000215943	ENSG00000215943		"""ncRNAs / Micro RNAs"""	33639	non-coding RNA	RNA, micro				MIRN892A			Standard	NR_030584		Approved	hsa-mir-892a	uc022cfq.1				X.37:g.145075803T>G				RNA	SNP	-	NULL	ENST00000401124.1	37	NULL		X																																																																																			MIR890	-	-		0.473	MIR892A-201	KNOWN	basic	miRNA	MIR890	HGNC	miRNA		T	NR_030584		145075803	-1	no_errors	ENST00000401256	ensembl	human	known	70_37	rna	SNP	0.000	G
MIR509-1	574514	genome.wustl.edu	37	X	146341192	146341192	+	RNA	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:146341192G>A	ENST00000385265.1	-	0	94				MIR509-3_ENST00000390725.1_RNA|MIR509-2_ENST00000390724.1_RNA	NR_030236.1|NR_030586.1				microRNA 509-1																		ACCCACAGACGTACCAATCAT	0.463																																																	0													229.0	183.0	197.0					X																	146341192		1568	3582	5150			100126337					Xq27.3	2011-09-12	2007-10-23	2008-12-18	ENSG00000208000	ENSG00000208000		"""ncRNAs / Micro RNAs"""	32146	non-coding RNA	RNA, micro		300875	"""microRNA 509"""	MIRN509, MIRN509-1			Standard	NR_030236		Approved	hsa-mir-509, hsa-mir-509-1	uc022cfy.1				X.37:g.146341192G>A				RNA	SNP	-	NULL	ENST00000385265.1	37	NULL		X																																																																																			MIR509-3	-	-		0.463	MIR509-1-201	KNOWN	basic	miRNA	MIR509-3	HGNC	miRNA		G	NR_030236		146341192	-1	no_errors	ENST00000390725	ensembl	human	known	70_37	rna	SNP	0.000	A
MSANTD4	84437	genome.wustl.edu	37	11	105881257	105881257	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:105881257C>A	ENST00000301919.4	-	2	1803	c.388G>T	c.(388-390)Gat>Tat	p.D130Y	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	130						nucleus (GO:0005634)											TCCCTGAAATCTGCCACATTT	0.453																																																	0													136.0	138.0	138.0					11																	105881257		2201	4299	6500	SO:0001583	missense	84437			AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.388G>T	11.37:g.105881257C>A	ENSP00000304713:p.Asp130Tyr		Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	NULL	p.D130Y	ENST00000301919.4	37	c.388	CCDS31663.1	11	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147652	0.77888	.	.	ENSG00000170903	ENST00000301919;ENST00000530788	.	.	.	5.58	5.58	0.84498	.	0.158974	0.53938	D	0.000050	T	0.76471	0.3992	L	0.51422	1.61	0.58432	D	0.999999	D	0.71674	0.998	D	0.77557	0.99	T	0.77253	-0.2656	9	0.87932	D	0	-5.4424	19.9173	0.97066	0.0:1.0:0.0:0.0	.	130	Q8NCY6	K1826_HUMAN	Y	130	.	ENSP00000304713:D130Y	D	-	1	0	KIAA1826	105386467	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.492000	0.73654	2.782000	0.95742	0.561000	0.74099	GAT	MSANTD4	-	NULL		0.453	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSANTD4	HGNC	protein_coding	OTTHUMT00000388619.1	C	NM_032424		105881257	-1	no_errors	ENST00000301919	ensembl	human	known	70_37	missense	SNP	1.000	A
MSANTD2	79684	genome.wustl.edu	37	11	124637698	124637698	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:124637698C>G	ENST00000374979.3	-	4	1062	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	MSANTD2_ENST00000526629.1_Missense_Mutation_p.E122Q|RP11-677M14.3_ENST00000504932.2_RNA|MSANTD2_ENST00000524950.1_3'UTR|MSANTD2_ENST00000239614.4_Missense_Mutation_p.E300Q|RP11-677M14.3_ENST00000532579.1_RNA			Q6P1R3	MSD2_HUMAN	Myb/SANT-like DNA-binding domain containing 2	352																	TCAGGCTTCTCAGAGTTGAAG	0.448																																																	0													60.0	64.0	63.0					11																	124637698		2201	4299	6500	SO:0001583	missense	79684			AK026995	CCDS8454.1, CCDS73408.1	11q24.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000120458	ENSG00000120458			26266	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 61"""	C11orf61			Standard	NM_024631		Approved	FLJ23342	uc001qaz.1	Q6P1R3	OTTHUMG00000165931	ENST00000374979.3:c.1054G>C	11.37:g.124637698C>G	ENSP00000364118:p.Glu352Gln		B3KRY6|Q9H042|Q9H5K8	Missense_Mutation	SNP	NULL	p.E352Q	ENST00000374979.3	37	c.1054		11	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374583	0.82573	.	.	ENSG00000120458	ENST00000239614;ENST00000374979;ENST00000526629	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.68247	0.2980	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.994;0.996	T	0.70479	-0.4860	9	0.87932	D	0	-14.5032	20.3495	0.98807	0.0:1.0:0.0:0.0	.	352;300	Q6P1R3;Q6P1R3-3	CK061_HUMAN;.	Q	300;352;122	.	ENSP00000239614:E300Q	E	-	1	0	C11orf61	124142908	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.400000	0.79949	2.814000	0.96858	0.591000	0.81541	GAG	MSANTD2	-	NULL		0.448	MSANTD2-002	KNOWN	basic|appris_principal|exp_conf	protein_coding	MSANTD2	HGNC	protein_coding	OTTHUMT00000387084.1	C	NM_024631		124637698	-1	no_errors	ENST00000374979	ensembl	human	known	70_37	missense	SNP	1.000	G
MTRNR2L1	100462977	genome.wustl.edu	37	17	22024328	22024328	+	IGR	SNP	C	C	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:22024328C>G	ENST00000540040.1	+	0	1555				RP11-846F4.12_ENST00000483901.2_RNA|MTND1P15_ENST00000579693.1_RNA	NM_001190452.1	NP_001177381.1			MT-RNR2-like 1																		GAACTCCCCTCCCTATACCTA	0.448																																																	0																																										SO:0001628	intergenic_variant	100288998			CR612552	CCDS54097.1	17p11.2	2014-02-18			ENSG00000256618	ENSG00000256618			37155	protein-coding gene	gene with protein product	"""humanin-like 1"""					19477263	Standard	NM_001190452		Approved		uc002gzb.2	P0CJ68	OTTHUMG00000179068		17.37:g.22024328C>G				RNA	SNP	-	NULL	ENST00000540040.1	37	NULL	CCDS54097.1	17																																																																																			MTND1P15	-	-		0.448	MTRNR2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTND1P15	HGNC	protein_coding	OTTHUMT00000444600.2	C	NM_001190452		22024328	+1	no_errors	ENST00000579693	ensembl	human	known	70_37	rna	SNP	0.001	G
MYBPHL	343263	genome.wustl.edu	37	1	109839731	109839731	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:109839731C>G	ENST00000357155.1	-	4	560	c.511G>C	c.(511-513)Gat>Cat	p.D171H	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	171	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		TTCCCCGTATCTTGGGGCGGT	0.577																																																	0													165.0	165.0	165.0					1																	109839731		2203	4300	6503	SO:0001583	missense	343263			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.511G>C	1.37:g.109839731C>G	ENSP00000349678:p.Asp171His		B7ZME5|Q5T2Z7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D171H	ENST00000357155.1	37	c.511	CCDS30793.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113826	0.77210	.	.	ENSG00000221986	ENST00000357155	D	0.89415	-2.51	3.94	3.94	0.45596	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94023	0.8085	M	0.87827	2.91	0.58432	D	0.999997	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.968	D	0.94211	0.7459	9	0.62326	D	0.03	.	14.2886	0.66263	0.0:1.0:0.0:0.0	.	148;171	B7ZME5;A2RUH7	.;MBPHL_HUMAN	H	171	ENSP00000349678:D171H	ENSP00000349678:D171H	D	-	1	0	MYBPHL	109641254	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.217000	0.77982	2.507000	0.84556	0.561000	0.74099	GAT	MYBPHL	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.577	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPHL	HGNC	protein_coding	OTTHUMT00000033197.1	C	NM_001010985		109839731	-1	no_errors	ENST00000357155	ensembl	human	known	70_37	missense	SNP	1.000	G
MYO15A	51168	genome.wustl.edu	37	17	18064645	18064645	+	Missense_Mutation	SNP	G	G	A	rs373695303		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:18064645G>A	ENST00000205890.5	+	57	9739	c.9401G>A	c.(9400-9402)cGa>cAa	p.R3134Q	MYO15A_ENST00000418233.3_Missense_Mutation_p.R398Q|MYO15A_ENST00000451725.2_Missense_Mutation_p.R26Q	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3134	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGCTGCCAGCGAGGCTGGAGG	0.607																																																	0								G	GLN/ARG	0,4270		0,0,2135	40.0	44.0	43.0		9401	5.2	1.0	17		43	1,8505		0,1,4252	no	missense	MYO15A	NM_016239.3	43	0,1,6387	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging	3134/3531	18064645	1,12775	2135	4253	6388	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9401G>A	17.37:g.18064645G>A	ENSP00000205890:p.Arg3134Gln		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.R3134Q	ENST00000205890.5	37	c.9401	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.120951	0.94385	0.0	1.18E-4	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000556535;ENST00000557190;ENST00000451725	D;D;D	0.92805	-3.11;-3.11;-3.11	5.16	5.16	0.70880	MyTH4 domain (3);	.	.	.	.	D	0.95856	0.8651	M	0.85859	2.78	0.53688	D	0.999978	D;D;D;D;D;D	0.89917	0.989;0.972;1.0;1.0;0.986;0.966	P;P;D;D;P;B	0.76575	0.903;0.552;0.988;0.98;0.606;0.398	D	0.96007	0.8998	9	0.72032	D	0.01	.	11.7287	0.51724	0.1288:0.0:0.8712:0.0	.	26;123;398;3134;56;141	B4DQJ3;B4DLV9;B4DFC7;Q9UKN7;Q7Z382;Q8TCK0	.;.;.;MYO15_HUMAN;.;.	Q	3134;123;88;26;26	ENSP00000205890:R3134Q;ENSP00000451782:R88Q;ENSP00000409098:R26Q	ENSP00000205890:R3134Q	R	+	2	0	MYO15A	18005370	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.145000	0.64839	2.399000	0.81585	0.462000	0.41574	CGA	MYO15A	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom		0.607	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	G	NM_016239		18064645	+1	no_errors	ENST00000205890	ensembl	human	known	70_37	missense	SNP	1.000	A
N4BP2L1	90634	genome.wustl.edu	37	13	33002135	33002135	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr13:33002135G>T	ENST00000380133.2	-	1	135	c.85C>A	c.(85-87)Ccc>Acc	p.P29T	RP11-298P3.4_ENST00000461502.1_RNA|N4BP2L1_ENST00000380139.4_Missense_Mutation_p.P29T|N4BP2L1_ENST00000380130.2_Missense_Mutation_p.P29T			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	29										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)		ccccgcgggggcggccggggc	0.672																																																	0													11.0	14.0	13.0					13																	33002135		1819	4008	5827	SO:0001583	missense	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.85C>A	13.37:g.33002135G>T	ENSP00000369476:p.Pro29Thr		A4QN21|Q5TBK0	Missense_Mutation	SNP	pfam_Zeta_toxin_domain	p.P29T	ENST00000380133.2	37	c.85	CCDS9345.2	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.22|14.22	2.471865|2.471865	0.43942|0.43942	.|.	.|.	ENSG00000139597|ENSG00000139597	ENST00000343281|ENST00000380130;ENST00000380139;ENST00000380133	.|.	.|.	.|.	3.38|3.38	3.38|3.38	0.38709|0.38709	.|.	.|2.175850	.|0.02461	.|N	.|0.086557	T|T	0.51991|0.51991	0.1707|0.1707	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.64830	.|0.994;0.99;0.983	.|P;P;P	.|0.57324	.|0.736;0.818;0.637	T|T	0.60110|0.60110	-0.7327|-0.7327	5|9	.|0.13108	.|T	.|0.6	.|.	6.4859|6.4859	0.22089|0.22089	0.1356:0.0:0.8644:0.0|0.1356:0.0:0.8644:0.0	.|.	.|6;29;29	.|Q5TBJ9;Q5TBK1-2;Q5TBK1	.|.;.;N42L1_HUMAN	D|T	6|29	.|.	.|ENSP00000369473:P29T	A|P	-|-	2|1	0|0	N4BP2L1|N4BP2L1	31900135|31900135	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	0.609000|0.609000	0.24238|0.24238	1.720000|1.720000	0.51447|0.51447	0.556000|0.556000	0.70494|0.70494	GCC|CCC	N4BP2L1	-	NULL		0.672	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	N4BP2L1	HGNC	protein_coding	OTTHUMT00000044412.2	G	NM_052818		33002135	-1	no_errors	ENST00000380130	ensembl	human	known	70_37	missense	SNP	1.000	T
NAV3	89795	genome.wustl.edu	37	12	78444704	78444704	+	Missense_Mutation	SNP	C	C	T	rs572701178		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr12:78444704C>T	ENST00000397909.2	+	11	2466	c.2293C>T	c.(2293-2295)Cgc>Tgc	p.R765C	NAV3_ENST00000536525.2_Missense_Mutation_p.R765C|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000266692.7_Missense_Mutation_p.R765C|NAV3_ENST00000228327.6_Missense_Mutation_p.R765C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	765						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGCTATCCTCGCAGTGGTAC	0.592										HNSCC(70;0.22)																																							0													67.0	68.0	68.0					12																	78444704		2039	4197	6236	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2293C>T	12.37:g.78444704C>T	ENSP00000381007:p.Arg765Cys		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.R765C	ENST00000397909.2	37	c.2293		12	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812193	0.70797	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.79	4.83	0.62350	.	0.000000	0.36066	U	0.002815	T	0.33265	0.0857	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.67725	0.932;0.676;0.953	T	0.01697	-1.1293	10	0.66056	D	0.02	-14.1261	16.822	0.85748	0.1544:0.8456:0.0:0.0	.	765;765;765	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	C	765	ENSP00000446132:R765C;ENSP00000381007:R765C;ENSP00000228327:R765C;ENSP00000266692:R765C	ENSP00000228327:R765C	R	+	1	0	NAV3	76968835	0.985000	0.35326	0.959000	0.39883	0.703000	0.40648	2.828000	0.48120	2.735000	0.93741	0.655000	0.94253	CGC	NAV3	-	NULL		0.592	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	C	NM_001024383		78444704	+1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	0.998	T
NDP	4693	genome.wustl.edu	37	X	43809085	43809085	+	Missense_Mutation	SNP	C	C	A	rs137852220		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:43809085C>A	ENST00000378062.5	-	3	769	c.362G>T	c.(361-363)cGg>cTg	p.R121L	NDP_ENST00000470584.1_5'UTR|NDP-AS1_ENST00000435093.1_RNA	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	121	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.		Missing (in ND). {ECO:0000269|PubMed:7627181}.|R -> G (in EVR2).|R -> L (in EVR2). {ECO:0000269|PubMed:8946107}.|R -> Q (in EVR2 and ND; reduced amount of protein in the extracellular matrix). {ECO:0000269|PubMed:16163268, ECO:0000269|PubMed:7795608, ECO:0000269|PubMed:8281159}.|R -> W (in ND and EVR2). {ECO:0000269|PubMed:17296899, ECO:0000269|PubMed:7795608}.		canonical Wnt signaling pathway (GO:0060070)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extracellular matrix-cell signaling (GO:0035426)|nervous system development (GO:0007399)|placenta development (GO:0001890)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|vacuole organization (GO:0007033)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	frizzled binding (GO:0005109)|growth factor activity (GO:0008083)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(2)	3						GAGGATGTACCGGTAGGTGGC	0.612											OREG0019744	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			GRCh37	CM930511	NDP	M	rs137852220						48.0	34.0	39.0					X																	43809085		2195	4292	6487	SO:0001583	missense	4693			X65882	CCDS14262.1	Xp11.4-p11.3	2013-02-26			ENSG00000124479	ENSG00000124479		"""Endogenous ligands"""	7678	protein-coding gene	gene with protein product		300658	"""exudative vitreoretinopathy 2 (X-linked)"""	EVR2		8252044	Standard	NM_000266		Approved	norrin	uc004dga.3	Q00604	OTTHUMG00000021391	ENST00000378062.5:c.362G>T	X.37:g.43809085C>A	ENSP00000367301:p.Arg121Leu	919	B2R8K6|Q5JYH5	Missense_Mutation	SNP	pfam_Cys_knot,pfam_DAN,smart_Cys_knot_C,pfscan_Cys_knot_C,prints_Norrie_dis	p.R121L	ENST00000378062.5	37	c.362	CCDS14262.1	X	.	.	.	.	.	.	.	.	.	.	C	34	5.406160	0.96051	.	.	ENSG00000124479	ENST00000378062	D	0.90385	-2.66	5.96	5.96	0.96718	Cystine knot (1);Cystine knot, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.92603	0.7650	L	0.27053	0.805	0.80722	A	1	D	0.69078	0.997	D	0.79784	0.993	D	0.93608	0.6936	9	0.87932	D	0	-8.5065	19.3572	0.94420	0.0:1.0:0.0:0.0	.	121	Q00604	NDP_HUMAN	L	121	ENSP00000367301:R121L	ENSP00000367301:R121L	R	-	2	0	NDP	43694029	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.524000	0.85096	0.600000	0.82982	CGG	NDP	-	pfam_Cys_knot,pfam_DAN,smart_Cys_knot_C,pfscan_Cys_knot_C,prints_Norrie_dis		0.612	NDP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDP	HGNC	protein_coding	OTTHUMT00000056309.1	C	NM_000266		43809085	-1	no_errors	ENST00000378062	ensembl	human	known	70_37	missense	SNP	1.000	A
NFASC	23114	genome.wustl.edu	37	1	204985781	204985781	+	3'UTR	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:204985781G>A	ENST00000401399.1	+	0	4036				NFASC_ENST00000367171.4_3'UTR|NFASC_ENST00000338515.6_3'UTR|NFASC_ENST00000539706.1_3'UTR|NFASC_ENST00000404907.1_3'UTR|NFASC_ENST00000338586.6_3'UTR|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000404076.1_3'UTR|NFASC_ENST00000360049.4_3'UTR|NFASC_ENST00000367172.4_3'UTR|NFASC_ENST00000367170.4_3'UTR|NFASC_ENST00000339876.6_3'UTR|NFASC_ENST00000367169.4_3'UTR|NFASC_ENST00000513543.1_3'UTR			O94856	NFASC_HUMAN	neurofascin						axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACAAGGGTACGATATGGGGGT	0.612																																																	0																																										SO:0001624	3_prime_UTR_variant	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.*114G>A	1.37:g.204985781G>A			B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	RNA	SNP	-	NULL	ENST00000401399.1	37	NULL	CCDS53460.1	1																																																																																			NFASC	-	-		0.612	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	G	NM_001005388		204985781	+1	no_errors	ENST00000495396	ensembl	human	known	70_37	rna	SNP	0.001	A
NKRF	55922	genome.wustl.edu	37	X	118723425	118723425	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:118723425C>T	ENST00000371527.1	-	2	2615	c.1963G>A	c.(1963-1965)Gat>Aat	p.D655N	NKRF_ENST00000304449.5_Missense_Mutation_p.D655N|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.D670N	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	655	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AGGTACCTATCATGGCCCACC	0.453																																																	0													136.0	111.0	120.0					X																	118723425		2203	4300	6503	SO:0001583	missense	55922			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1963G>A	X.37:g.118723425C>T	ENSP00000360582:p.Asp655Asn		G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_R3H_ss-bd,smart_Ds-RNA-bd,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd	p.D670N	ENST00000371527.1	37	c.2008	CCDS35375.1	X	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659913	0.29515	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.44083	0.94;0.94;0.93	5.95	5.95	0.96441	Single-stranded nucleic acid binding R3H (3);	0.211023	0.50627	D	0.000115	T	0.31888	0.0811	N	0.26130	0.795	0.41039	D	0.985214	B	0.06786	0.001	B	0.13407	0.009	T	0.07539	-1.0767	10	0.35671	T	0.21	-25.3716	13.5361	0.61648	0.0:0.9216:0.0:0.0784	.	655	O15226	NKRF_HUMAN	N	655;655;670	ENSP00000360582:D655N;ENSP00000304803:D655N;ENSP00000442308:D670N	ENSP00000304803:D655N	D	-	1	0	NKRF	118607453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.995000	0.57001	2.506000	0.84524	0.600000	0.82982	GAT	NKRF	-	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd		0.453	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKRF	HGNC	protein_coding	OTTHUMT00000058044.1	C	NM_017544		118723425	-1	no_errors	ENST00000542113	ensembl	human	known	70_37	missense	SNP	0.993	T
NOL8	55035	genome.wustl.edu	37	9	95063870	95063870	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr9:95063870G>C	ENST00000535387.1	-	11	3023	c.3024C>G	c.(3022-3024)ttC>ttG	p.F1008L	NOL8_ENST00000358855.4_Missense_Mutation_p.F978L|NOL8_ENST00000545558.1_Missense_Mutation_p.F1046L|NOL8_ENST00000542053.1_Missense_Mutation_p.F978L|NOL8_ENST00000442668.2_Missense_Mutation_p.F1046L					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CAAAAAAAGAGAACGTGAACC	0.418																																																	0													51.0	49.0	49.0					9																	95063870		1867	4099	5966	SO:0001583	missense	55035			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.3024C>G	9.37:g.95063870G>C	ENSP00000441300:p.Phe1008Leu			Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F1046L	ENST00000535387.1	37	c.3138	CCDS47993.1	9	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269444	0.59540	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053	T;T;T;T;T	0.18338	2.22;2.25;2.22;2.52;2.25	6.16	0.843	0.18935	.	0.000000	0.85682	D	0.000000	T	0.37156	0.0993	M	0.74258	2.255	0.47037	D	0.999291	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.09773	-1.0659	10	0.62326	D	0.03	-12.5399	10.4223	0.44356	0.438:0.0:0.562:0.0	.	978;1046	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	L	1046;1010;978;1046;1008;978	ENSP00000401177:F1046L;ENSP00000351723:F978L;ENSP00000441140:F1046L;ENSP00000441300:F1008L;ENSP00000440709:F978L	ENSP00000351723:F978L	F	-	3	2	NOL8	94103691	1.000000	0.71417	0.984000	0.44739	0.179000	0.23085	2.116000	0.41930	0.140000	0.18849	0.650000	0.86243	TTC	NOL8	-	NULL		0.418	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2	G	NM_017948		95063870	-1	no_errors	ENST00000442668	ensembl	human	known	70_37	missense	SNP	0.998	C
NPM2	10361	genome.wustl.edu	37	8	21882801	21882801	+	Silent	SNP	G	G	C	rs372304710		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:21882801G>C	ENST00000397940.1	+	2	1057	c.42G>C	c.(40-42)gtG>gtC	p.V14V	NPM2_ENST00000289820.6_Silent_p.V14V|NPM2_ENST00000518119.1_Silent_p.V14V|NPM2_ENST00000381530.5_Silent_p.V14V|NPM2_ENST00000520180.1_Intron|NPM2_ENST00000521157.1_Silent_p.V14V			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2	14					chromatin remodeling (GO:0006338)|embryo development (GO:0009790)|oocyte differentiation (GO:0009994)|positive regulation of catalytic activity (GO:0043085)|positive regulation of DNA replication (GO:0045740)|positive regulation of meiosis (GO:0045836)|protein homooligomerization (GO:0051260)|regulation of exit from mitosis (GO:0007096)|single fertilization (GO:0007338)	cytoplasmic chromatin (GO:0000789)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleic acid binding (GO:0003676)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		AAAAGGCAGTGACGACCGTGC	0.682																																																	0								G		0,4406		0,0,2203	36.0	38.0	37.0		42	-7.7	0.0	8		37	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NPM2	NM_182795.1		0,1,6502	CC,CG,GG		0.0116,0.0,0.0077		14/215	21882801	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10361			AY262113	CCDS6018.1, CCDS75703.1	8p21.3	2009-08-27	2009-08-27		ENSG00000158806	ENSG00000158806			7930	protein-coding gene	gene with protein product		608073				12714744	Standard	NM_182795		Approved		uc003xae.3	Q86SE8	OTTHUMG00000131129	ENST00000397940.1:c.42G>C	8.37:g.21882801G>C			B3KSU0|D3DSQ8|Q6NVH6	Silent	SNP	pfam_Nucleoplasmin,superfamily_Nucleoplasmin_core	p.V14	ENST00000397940.1	37	c.42	CCDS6018.1	8																																																																																			NPM2	-	NULL		0.682	NPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM2	HGNC	protein_coding	OTTHUMT00000253810.2	G	NM_182795		21882801	+1	no_errors	ENST00000397940	ensembl	human	known	70_37	silent	SNP	0.000	C
NPY6R	4888	genome.wustl.edu	37	5	137144629	137144629	+	RNA	SNP	G	G	C			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr5:137144629G>C	ENST00000510937.1	+	0	1177					NR_002713.3		Q99463	NPY6R_HUMAN	neuropeptide Y receptor Y6 (pseudogene)							integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)										TGCAAAGGTAGATAAGAAGAA	0.478																																																	0																																												4888			D86519		5q31.2	2013-03-26			ENSG00000226306	ENSG00000226306		"""GPCR / Class A : Neuropeptide receptors : Y"""	7959	pseudogene	pseudogene		601770				8910373, 8910290	Standard	NR_002713		Approved	PP2, NPY1RL, NPY6RP	uc011cyf.2	Q99463	OTTHUMG00000163236		5.37:g.137144629G>C			D3DQB4	RNA	SNP	-	NULL	ENST00000510937.1	37	NULL		5																																																																																			NPY6R	-	-		0.478	NPY6R-003	KNOWN	basic	processed_transcript	NPY6R	HGNC	pseudogene	OTTHUMT00000373630.1	G			137144629	+1	no_errors	ENST00000510937	ensembl	human	known	70_37	rna	SNP	0.932	C
NTRK2	4915	genome.wustl.edu	37	9	87325597	87325597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr9:87325597G>A	ENST00000323115.4	+	5	827	c.474G>A	c.(472-474)tgG>tgA	p.W158*	NTRK2_ENST00000376214.1_Nonsense_Mutation_p.W158*|NTRK2_ENST00000376208.1_Nonsense_Mutation_p.W158*|NTRK2_ENST00000359847.3_Nonsense_Mutation_p.W158*|NTRK2_ENST00000395882.1_Nonsense_Mutation_p.W158*|NTRK2_ENST00000376213.1_Nonsense_Mutation_p.W158*|NTRK2_ENST00000395866.2_Nonsense_Mutation_p.W2*|NTRK2_ENST00000304053.6_Nonsense_Mutation_p.W158*|NTRK2_ENST00000277120.3_Nonsense_Mutation_p.W158*			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	158	LRRCT.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)	p.W158*(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	ACATTATGTGGATCAAGACTC	0.433										TSP Lung(25;0.17)																																							2	Substitution - Nonsense(2)	pancreas(2)											139.0	122.0	128.0					9																	87325597		2203	4300	6503	SO:0001587	stop_gained	4915			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.474G>A	9.37:g.87325597G>A	ENSP00000314586:p.Trp158*		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.W158*	ENST00000323115.4	37	c.474	CCDS35050.1	9	.	.	.	.	.	.	.	.	.	.	G	40	8.225240	0.98714	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7637	0.91864	0.0:0.0:1.0:0.0	.	.	.	.	X	158;158;158;158;158;158;158;158;2	.	ENSP00000277120:W158X	W	+	3	0	NTRK2	86515417	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.379000	0.73154	2.740000	0.93945	0.557000	0.71058	TGG	NTRK2	-	smart_Cys-rich_flank_reg_C		0.433	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1	G			87325597	+1	no_errors	ENST00000277120	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NUP188	23511	genome.wustl.edu	37	9	131747281	131747281	+	Silent	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr9:131747281C>T	ENST00000372577.2	+	20	2085	c.2064C>T	c.(2062-2064)acC>acT	p.T688T		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	688					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCTTGATCACCACCCTTGTCA	0.488											OREG0003924	type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													186.0	148.0	161.0					9																	131747281		2203	4300	6503	SO:0001819	synonymous_variant	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2064C>T	9.37:g.131747281C>T		1590	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.T688	ENST00000372577.2	37	c.2064	CCDS35156.1	9																																																																																			NUP188	-	pfam_Nucleoporin_Nup188		0.488	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	C			131747281	+1	no_errors	ENST00000372577	ensembl	human	known	70_37	silent	SNP	0.993	T
NYNRIN	57523	genome.wustl.edu	37	14	24884524	24884524	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr14:24884524C>G	ENST00000382554.3	+	9	3887	c.3569C>G	c.(3568-3570)tCa>tGa	p.S1190*		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1190					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCCTATACCTCAAAACCCCTC	0.632																																																	0													70.0	77.0	75.0					14																	24884524		1956	4133	6089	SO:0001587	stop_gained	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3569C>G	14.37:g.24884524C>G	ENSP00000371994:p.Ser1190*		Q6P153|Q86TR3|Q9HAC4	Nonsense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.S1190*	ENST00000382554.3	37	c.3569	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	C	43	10.085285	0.99333	.	.	ENSG00000205978	ENST00000382554	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.7777	0.57457	0.0:1.0:0.0:0.0	.	.	.	.	X	1190	.	ENSP00000371994:S1190X	S	+	2	0	NYNRIN	23954364	0.998000	0.40836	0.999000	0.59377	0.995000	0.86356	4.894000	0.63206	2.371000	0.80710	0.655000	0.94253	TCA	NYNRIN	-	NULL		0.632	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	C			24884524	+1	no_errors	ENST00000382554	ensembl	human	known	70_37	nonsense	SNP	1.000	G
OBSCN	84033	genome.wustl.edu	37	1	228547607	228547607	+	Intron	SNP	G	G	C			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:228547607G>C	ENST00000422127.1	+	80	18705				OBSCN_ENST00000284548.11_Missense_Mutation_p.K6338N|OBSCN_ENST00000366709.4_Missense_Mutation_p.K3457N|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366707.4_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGTGAAGAAGATGGGCCCGC	0.667																																																	0													20.0	24.0	23.0					1																	228547607		1932	4116	6048	SO:0001627	intron_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2670G>C	1.37:g.228547607G>C			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like,pfscan_DH-domain	p.K3457N	ENST00000422127.1	37	c.10371	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360181	0.61403	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	T;T	0.67171	-0.25;-0.1	4.71	1.36	0.22044	.	.	.	.	.	T	0.77445	0.4131	M	0.75264	2.295	0.09310	N	0.999997	D	0.89917	1.0	D	0.74348	0.983	T	0.63229	-0.6684	9	0.72032	D	0.01	.	7.1358	0.25527	0.503:0.0:0.497:0.0	.	6338	Q5VST9-3	.	N	6338;3457	ENSP00000284548:K6338N;ENSP00000355670:K3457N	ENSP00000284548:K6338N	K	+	3	2	OBSCN	226614230	0.066000	0.20996	0.199000	0.23439	0.086000	0.17979	0.348000	0.20031	0.498000	0.27948	0.561000	0.74099	AAG	OBSCN	-	NULL		0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		G	NM_052843		228547607	+1	no_errors	ENST00000366709	ensembl	human	known	70_37	missense	SNP	0.043	C
ODF1	4956	genome.wustl.edu	37	8	103564151	103564151	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:103564151G>A	ENST00000285402.3	+	1	352	c.196G>A	c.(196-198)Ggc>Agc	p.G66S		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	66	2 X 5 AA repeats of [RC]-C-L-C-D.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			ACGCTCTTGCGGCCTGTGTGA	0.502																																																	0													312.0	252.0	273.0					8																	103564151		2203	4300	6503	SO:0001583	missense	4956			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.196G>A	8.37:g.103564151G>A	ENSP00000285402:p.Gly66Ser		Q3SX72	Missense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom	p.G66S	ENST00000285402.3	37	c.196	CCDS6293.1	8	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880974	0.72294	.	.	ENSG00000155087	ENST00000285402	T	0.44083	0.93	5.83	4.9	0.64082	.	0.110508	0.41097	N	0.000952	T	0.34803	0.0910	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	P	0.55303	0.773	T	0.18398	-1.0338	10	0.49607	T	0.09	-42.7372	11.3959	0.49841	0.0:0.0:0.8198:0.1802	.	66	Q14990	ODFP1_HUMAN	S	66	ENSP00000285402:G66S	ENSP00000285402:G66S	G	+	1	0	ODF1	103633327	0.983000	0.35010	0.984000	0.44739	0.671000	0.39405	2.038000	0.41184	2.750000	0.94351	0.655000	0.94253	GGC	ODF1	-	NULL		0.502	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF1	HGNC	protein_coding	OTTHUMT00000379884.1	G			103564151	+1	no_errors	ENST00000285402	ensembl	human	known	70_37	missense	SNP	0.993	A
OR4E2	26686	genome.wustl.edu	37	14	22133660	22133660	+	Missense_Mutation	SNP	C	C	G	rs201192739		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr14:22133660C>G	ENST00000408935.1	+	1	364	c.364C>G	c.(364-366)Cgt>Ggt	p.R122G		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GGCGTATGATCGTTACGTGGC	0.468																																																	0													208.0	193.0	198.0					14																	22133660		2052	4213	6265	SO:0001583	missense	26686				CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.364C>G	14.37:g.22133660C>G	ENSP00000386195:p.Arg122Gly		Q6IET6|Q96R62	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R122G	ENST00000408935.1	37	c.364	CCDS41916.1	14	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141485	0.57044	.	.	ENSG00000221977	ENST00000408935	T	0.77620	-1.11	5.6	5.6	0.85130	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	U	0.001518	D	0.92218	0.7532	H	0.96777	3.88	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.94456	0.7672	10	0.87932	D	0	.	17.0923	0.86625	0.0:1.0:0.0:0.0	.	122	Q8NGC2	OR4E2_HUMAN	G	122	ENSP00000386195:R122G	ENSP00000386195:R122G	R	+	1	0	OR4E2	21203500	0.997000	0.39634	0.997000	0.53966	0.203000	0.24098	3.144000	0.50616	2.639000	0.89480	0.585000	0.79938	CGT	OR4E2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.468	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4E2	HGNC	protein_coding	OTTHUMT00000401874.1	C			22133660	+1	no_errors	ENST00000408935	ensembl	human	known	70_37	missense	SNP	1.000	G
OR8H2	390151	genome.wustl.edu	37	11	55873012	55873012	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:55873012G>A	ENST00000313503.1	+	1	494	c.494G>A	c.(493-495)aGa>aAa	p.R165K		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TCCATGAGCAGATTGCATTTC	0.428										HNSCC(53;0.14)																																							0													251.0	225.0	234.0					11																	55873012		2201	4296	6497	SO:0001583	missense	390151			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.494G>A	11.37:g.55873012G>A	ENSP00000323982:p.Arg165Lys		Q6IFC1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R165K	ENST00000313503.1	37	c.494	CCDS31518.1	11	.	.	.	.	.	.	.	.	.	.	g	10.50	1.368710	0.24771	.	.	ENSG00000181767	ENST00000313503	T	0.00123	8.7	3.35	1.32	0.21799	GPCR, rhodopsin-like superfamily (1);	0.339874	0.25683	N	0.028996	T	0.00109	0.0003	L	0.42686	1.345	0.09310	N	1	B	0.17038	0.02	B	0.20577	0.03	T	0.40515	-0.9559	10	0.56958	D	0.05	.	3.8042	0.08770	0.3635:0.19:0.4465:0.0	.	165	Q8N162	OR8H2_HUMAN	K	165	ENSP00000323982:R165K	ENSP00000323982:R165K	R	+	2	0	OR8H2	55629588	0.000000	0.05858	0.001000	0.08648	0.106000	0.19336	-2.938000	0.00684	0.183000	0.20059	0.440000	0.28878	AGA	OR8H2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.428	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	HGNC	protein_coding	OTTHUMT00000391540.1	G	NM_001005200		55873012	+1	no_errors	ENST00000313503	ensembl	human	known	70_37	missense	SNP	0.000	A
ORM1	5004	genome.wustl.edu	37	9	117085984	117085984	+	Nonsense_Mutation	SNP	C	C	T	rs551088472		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr9:117085984C>T	ENST00000538816.1	+	1	608	c.571C>T	c.(571-573)Cga>Tga	p.R191*	ORM1_ENST00000259396.8_Silent_p.N52N			P02763	A1AG1_HUMAN	orosomucoid 1	0					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Abiraterone(DB05812)|Acenocoumarol(DB01418)|Ajmaline(DB01426)|Alfentanil(DB00802)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aprindine(DB01429)|Bupropion(DB01156)|Canagliflozin(DB08907)|Celecoxib(DB00482)|Chlorpromazine(DB00477)|Desipramine(DB01151)|Disopyramide(DB00280)|Doxazosin(DB00590)|Doxepin(DB01142)|Erlotinib(DB00530)|Fluoxetine(DB00472)|Gefitinib(DB00317)|Imatinib(DB00619)|Imipramine(DB00458)|Ivacaftor(DB08820)|Maprotiline(DB00934)|Mirabegron(DB08893)|Nateglinide(DB00731)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxycodone(DB00497)|Penbutolol(DB01359)|Pethidine(DB00454)|Phenprocoumon(DB00946)|Pitavastatin(DB08860)|Prazosin(DB00457)|Propranolol(DB00571)|Quinidine(DB00908)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Tamsulosin(DB00706)|Telaprevir(DB05521)|Thalidomide(DB01041)|Trazodone(DB00656)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Vismodegib(DB08828)|Warfarin(DB00682)	CCTTTCGAAACGAGGAGTACA	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		24481	0.001		0.0	False		,,,				2504	0.0																0													103.0	100.0	101.0					9																	117085984		2201	4297	6498	SO:0001587	stop_gained	5004				CCDS6803.1	9q32	2013-09-19			ENSG00000229314	ENSG00000229314		"""Lipocalins"""	8498	protein-coding gene	gene with protein product		138600					Standard	NM_000607		Approved		uc004bik.4	P02763	OTTHUMG00000021012	ENST00000538816.1:c.571C>T	9.37:g.117085984C>T	ENSP00000442679:p.Arg191*		B7ZKQ5|Q5T539|Q5U067|Q8TC16	Nonsense_Mutation	SNP	NULL	p.R191*	ENST00000538816.1	37	c.571		9	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793413	0.50102	.	.	ENSG00000229314	ENST00000538816	.	.	.	4.96	-9.91	0.00458	.	.	.	.	.	.	.	.	.	.	.	0.21740	A	0.000435606	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8959	2.1775	0.03865	0.2048:0.1803:0.404:0.2108	.	.	.	.	X	191	.	ENSP00000442679:R191X	R	+	1	2	ORM1	116125805	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.954000	0.00326	-1.645000	0.01515	-0.362000	0.07510	CGA	ORM1	-	NULL		0.498	ORM1-201	KNOWN	basic	protein_coding	ORM1	HGNC	protein_coding		C			117085984	+1	no_errors	ENST00000538816	ensembl	human	known	70_37	nonsense	SNP	0.000	T
PATL1	219988	genome.wustl.edu	37	11	59421511	59421511	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:59421511G>A	ENST00000300146.9	-	9	1150	c.1066C>T	c.(1066-1068)Cac>Tac	p.H356Y		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	356	Involved in RNA-binding.|Involved in nuclear foci localization.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						GGATGGAGGTGAGTTGTGTCC	0.418																																																	0													169.0	171.0	170.0					11																	59421511		2007	4173	6180	SO:0001583	missense	219988			AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1066C>T	11.37:g.59421511G>A	ENSP00000300146:p.His356Tyr		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	pfam_Topo_II-assoc_PAT1	p.H356Y	ENST00000300146.9	37	c.1066	CCDS44613.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.068663	0.93950	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.48201	0.82	5.75	5.75	0.90469	.	0.043943	0.85682	D	0.000000	T	0.53883	0.1824	L	0.28115	0.83	0.58432	D	0.999999	D;D	0.62365	0.989;0.991	D;D	0.76575	0.979;0.988	T	0.36962	-0.9726	10	0.06099	T	0.92	-15.216	19.5465	0.95299	0.0:0.0:1.0:0.0	.	326;356	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	Y	356;326	ENSP00000300146:H356Y	ENSP00000300146:H356Y	H	-	1	0	PATL1	59178087	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.553000	0.90686	2.716000	0.92895	0.655000	0.94253	CAC	PATL1	-	pfam_Topo_II-assoc_PAT1		0.418	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATL1	HGNC	protein_coding	OTTHUMT00000394559.1	G	NM_152716		59421511	-1	no_errors	ENST00000300146	ensembl	human	known	70_37	missense	SNP	1.000	A
PCDH17	27253	genome.wustl.edu	37	13	58208055	58208055	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr13:58208055G>A	ENST00000377918.3	+	1	1401	c.1375G>A	c.(1375-1377)Gcg>Acg	p.A459T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	459	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAAGTCGTTCGCGATCAAGAT	0.607																																					Melanoma(72;952 1291 1619 12849 33676)												0													52.0	42.0	45.0					13																	58208055		2202	4300	6502	SO:0001583	missense	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1375G>A	13.37:g.58208055G>A	ENSP00000367151:p.Ala459Thr		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A459T	ENST00000377918.3	37	c.1375	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	G	1.510	-0.549707	0.03996	.	.	ENSG00000118946	ENST00000377918	T	0.44881	0.91	5.58	3.59	0.41128	Cadherin (5);Cadherin-like (1);	0.245807	0.48767	D	0.000178	T	0.12263	0.0298	N	0.00683	-1.26	0.37860	D	0.929692	B;B	0.09022	0.001;0.002	B;B	0.11329	0.003;0.006	T	0.10064	-1.0646	9	.	.	.	.	8.3819	0.32477	0.082:0.0:0.4926:0.4254	.	459;459	O14917-2;O14917	.;PCD17_HUMAN	T	459	ENSP00000367151:A459T	.	A	+	1	0	PCDH17	57106056	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	2.595000	0.46197	1.298000	0.44778	0.561000	0.74099	GCG	PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.607	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	G	NM_001040429		58208055	+1	no_errors	ENST00000377918	ensembl	human	known	70_37	missense	SNP	1.000	A
PCDH17	27253	genome.wustl.edu	37	13	58298883	58298883	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr13:58298883G>A	ENST00000377918.3	+	4	2961	c.2935G>A	c.(2935-2937)Gaa>Aaa	p.E979K		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	979					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACCTACAGTTGAAGCTAATGT	0.438																																					Melanoma(72;952 1291 1619 12849 33676)												0													104.0	97.0	100.0					13																	58298883		2203	4300	6503	SO:0001583	missense	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2935G>A	13.37:g.58298883G>A	ENSP00000367151:p.Glu979Lys		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E979K	ENST00000377918.3	37	c.2935	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221663	0.58560	.	.	ENSG00000118946	ENST00000377918	T	0.58652	0.32	6.07	6.07	0.98685	.	0.105793	0.64402	D	0.000004	T	0.70605	0.3243	L	0.49126	1.545	0.80722	D	1	D	0.61080	0.989	P	0.61592	0.891	T	0.65059	-0.6260	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	979	O14917	PCD17_HUMAN	K	979	ENSP00000367151:E979K	.	E	+	1	0	PCDH17	57196884	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GAA	PCDH17	-	NULL		0.438	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	G	NM_001040429		58298883	+1	no_errors	ENST00000377918	ensembl	human	known	70_37	missense	SNP	1.000	A
PCDHA4	56144	genome.wustl.edu	37	5	140187459	140187459	+	Silent	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr5:140187459C>T	ENST00000530339.1	+	1	687	c.687C>T	c.(685-687)ctC>ctT	p.L229L	PCDHA4_ENST00000512229.2_Silent_p.L229L|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.L229L|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	229	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGTTACTCATCACAGTAC	0.423																																																	0													63.0	64.0	64.0					5																	140187459		2203	4300	6503	SO:0001819	synonymous_variant	56144			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.687C>T	5.37:g.140187459C>T			O75285|Q2M253	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L229	ENST00000530339.1	37	c.687	CCDS54916.1	5																																																																																			PCDHA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.423	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2	C	NM_018907		140187459	+1	no_errors	ENST00000530339	ensembl	human	known	70_37	silent	SNP	0.000	T
PCDHB8	56128	genome.wustl.edu	37	5	140559550	140559550	+	Silent	SNP	C	C	G	rs537745447		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr5:140559550C>G	ENST00000239444.2	+	1	2180	c.1935C>G	c.(1933-1935)gtC>gtG	p.V645V	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	645	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGGTCAAGGACAATG	0.701													C|||	1	0.000199681	0.0	0.0	5008	,	,		15781	0.0		0.001	False		,,,				2504	0.0																0													20.0	22.0	21.0					5																	140559550		2142	4206	6348	SO:0001819	synonymous_variant	56128			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1935C>G	5.37:g.140559550C>G			B9EGV1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V645	ENST00000239444.2	37	c.1935	CCDS4250.1	5																																																																																			PCDHB8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.701	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	C	NM_019120		140559550	+1	no_errors	ENST00000239444	ensembl	human	known	70_37	silent	SNP	0.954	G
PCLO	27445	genome.wustl.edu	37	7	82584937	82584937	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr7:82584937C>T	ENST00000333891.9	-	5	5669	c.5332G>A	c.(5332-5334)Gaa>Aaa	p.E1778K	PCLO_ENST00000423517.2_Missense_Mutation_p.E1778K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTCTCAATTCTTCTTCCTCT	0.403																																																	0													93.0	87.0	88.0					7																	82584937		1870	4110	5980	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5332G>A	7.37:g.82584937C>T	ENSP00000334319:p.Glu1778Lys			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.E1778K	ENST00000333891.9	37	c.5332	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806165	0.31961	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19938	2.11;2.11	5.56	5.56	0.83823	.	.	.	.	.	T	0.15262	0.0368	N	0.14661	0.345	0.80722	D	1	P;P	0.40970	0.734;0.734	B;B	0.35470	0.203;0.203	T	0.05131	-1.0904	9	0.87932	D	0	.	19.5207	0.95184	0.0:1.0:0.0:0.0	.	1778;1778	Q9Y6V0-5;Q9Y6V0-6	.;.	K	1709;1778;1778	ENSP00000334319:E1778K;ENSP00000388393:E1778K	ENSP00000334319:E1778K	E	-	1	0	PCLO	82422873	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.035000	0.57297	2.614000	0.88457	0.650000	0.86243	GAA	PCLO	-	NULL		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82584937	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	1.000	T
PCNT	5116	genome.wustl.edu	37	21	47831138	47831138	+	Silent	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr21:47831138G>A	ENST00000359568.5	+	28	5258	c.5151G>A	c.(5149-5151)ctG>ctA	p.L1717L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1717					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTGAAGAGCTGAAAGCCACTA	0.403																																																	0													67.0	74.0	72.0					21																	47831138		2203	4300	6503	SO:0001819	synonymous_variant	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5151G>A	21.37:g.47831138G>A			O43152|Q7Z7C9	Silent	SNP	pfam_PACT_domain	p.L1717	ENST00000359568.5	37	c.5151	CCDS33592.1	21																																																																																			PCNT	-	NULL		0.403	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	G	NM_006031		47831138	+1	no_errors	ENST00000359568	ensembl	human	known	70_37	silent	SNP	0.629	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178938934	178938934	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:178938934G>A	ENST00000263967.3	+	14	2333	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	726			E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E726K(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAGAAGGATGAAACACAAAA	0.428		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	8	Substitution - Missense(8)	lung(4)|large_intestine(2)|breast(2)											89.0	78.0	82.0					3																	178938934		1917	4118	6035	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2176G>A	3.37:g.178938934G>A	ENSP00000263967:p.Glu726Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E726K	ENST00000263967.3	37	c.2176	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308869	0.60305	.	.	ENSG00000121879	ENST00000263967	T	0.80653	-1.4	5.67	5.67	0.87782	Protein kinase-like domain (1);	0.166180	0.38778	U	0.001568	T	0.73450	0.3588	L	0.36672	1.1	0.80722	D	1	P	0.46064	0.872	B	0.42738	0.396	T	0.71401	-0.4604	10	0.02654	T	1	-19.3819	19.7612	0.96319	0.0:0.0:1.0:0.0	.	726	P42336	PK3CA_HUMAN	K	726	ENSP00000263967:E726K	ENSP00000263967:E726K	E	+	1	0	PIK3CA	180421628	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.476000	0.97823	2.670000	0.90874	0.655000	0.94253	GAA	PIK3CA	-	superfamily_Kinase-like_dom		0.428	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178938934	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PKHD1	5314	genome.wustl.edu	37	6	51524491	51524491	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr6:51524491delG	ENST00000371117.3	-	61	10708	c.10433delC	c.(10432-10434)cctfs	p.P3478fs		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3478					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAAAACTTGAGGAGTTTGATC	0.448																																																	0													83.0	85.0	84.0					6																	51524491		2203	4300	6503	SO:0001589	frameshift_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10433delC	6.37:g.51524491delG	ENSP00000360158:p.Pro3478fs		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Frame_Shift_Del	DEL	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.P3478fs	ENST00000371117.3	37	c.10433	CCDS4935.1	6																																																																																			PKHD1	-	NULL		0.448	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51524491	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	frame_shift_del	DEL	0.986	-
PLIN5	440503	genome.wustl.edu	37	19	4525777	4525777	+	Silent	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr19:4525777G>A	ENST00000381848.3	-	6	668	c.588C>T	c.(586-588)ggC>ggT	p.G196G		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	196	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GCACAAAGTAGCCCTGCTGTC	0.642																																																	0													44.0	52.0	49.0					19																	4525777		2105	4208	6313	SO:0001819	synonymous_variant	440503			DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.588C>T	19.37:g.4525777G>A			A2RRC1|Q6ZS68	Silent	SNP	pfam_Perilipin,pirsf_Perilipin	p.G196	ENST00000381848.3	37	c.588	CCDS42473.1	19																																																																																			PLIN5	-	pfam_Perilipin,pirsf_Perilipin		0.642	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN5	HGNC	protein_coding	OTTHUMT00000458647.1	G	NM_001013706		4525777	-1	no_errors	ENST00000381848	ensembl	human	known	70_37	silent	SNP	1.000	A
POLA1	5422	genome.wustl.edu	37	X	24759593	24759593	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:24759593A>G	ENST00000379059.3	+	21	2315	c.2300A>G	c.(2299-2301)cAg>cGg	p.Q767R	POLA1_ENST00000379068.3_Missense_Mutation_p.Q773R|SCARNA23_ENST00000516060.1_RNA	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	767					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TTAGCATTGCAGATCACTAAC	0.388																																																	0													128.0	105.0	113.0					X																	24759593		2203	4300	6503	SO:0001583	missense	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2300A>G	X.37:g.24759593A>G	ENSP00000368349:p.Gln767Arg		Q86UQ7	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.Q773R	ENST00000379059.3	37	c.2318	CCDS14214.1	X	.	.	.	.	.	.	.	.	.	.	A	20.2	3.941274	0.73557	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.44482	0.92;0.92	5.24	5.24	0.73138	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74925	-0.3498	10	0.52906	T	0.07	-9.0274	14.2655	0.66116	1.0:0.0:0.0:0.0	.	767	P09884	DPOLA_HUMAN	R	773;767	ENSP00000368358:Q773R;ENSP00000368349:Q767R	ENSP00000368349:Q767R	Q	+	2	0	POLA1	24669514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.690000	0.91272	1.944000	0.56390	0.486000	0.48141	CAG	POLA1	-	superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2		0.388	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	A	NM_016937		24759593	+1	no_errors	ENST00000379068	ensembl	human	known	70_37	missense	SNP	1.000	G
PLP1	5354	genome.wustl.edu	37	X	103041101	103041101	+	Intron	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:103041101G>A	ENST00000303958.2	+	3	337				PLP1_ENST00000361621.2_Intron|PLP1_ENST00000418604.1_Intron	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1						astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CTACTCCTGTGAGTTAGCATG	0.552																																																	0																																										SO:0001627	intron_variant	5354			M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.192-293G>A	X.37:g.103041101G>A			P04400|P06905|Q502Y1|Q6FHZ6	RNA	SNP	-	NULL	ENST00000303958.2	37	NULL	CCDS14513.1	X																																																																																			PLP1	-	-		0.552	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLP1	HGNC	protein_coding	OTTHUMT00000057743.2	G			103041101	+1	no_errors	ENST00000476160	ensembl	human	putative	70_37	rna	SNP	0.007	A
POTEA	340441	genome.wustl.edu	37	8	43173647	43173647	+	RNA	SNP	G	G	C			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:43173647G>C	ENST00000522175.2	+	0	933							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGGATTATCAGAAAACCTGAC	0.378																																																	0													151.0	149.0	149.0					8																	43173647		2198	4298	6496			340441			AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43173647G>C			A6ND17|A6ND71|Q6S8J6	RNA	SNP	-	NULL	ENST00000522175.2	37	NULL		8																																																																																			POTEA	-	-		0.378	POTEA-003	KNOWN	basic	processed_transcript	POTEA	HGNC	pseudogene	OTTHUMT00000383492.1	G	NM_001002920		43173647	+1	no_errors	ENST00000522175	ensembl	human	known	70_37	rna	SNP	0.085	C
PRDM9	56979	genome.wustl.edu	37	5	23526496	23526496	+	Silent	SNP	G	G	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr5:23526496G>T	ENST00000296682.3	+	11	1481	c.1299G>T	c.(1297-1299)ggG>ggT	p.G433G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	433					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCTGCCCAGGGGATCAGAATC	0.448										HNSCC(3;0.000094)																																							0													89.0	86.0	87.0					5																	23526496		2203	4300	6503	SO:0001819	synonymous_variant	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1299G>T	5.37:g.23526496G>T			B4DX22|Q27Q50	Silent	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.G433	ENST00000296682.3	37	c.1299	CCDS43307.1	5																																																																																			PRDM9	-	NULL		0.448	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	G	NM_020227		23526496	+1	no_errors	ENST00000296682	ensembl	human	known	70_37	silent	SNP	0.007	T
PRPF40A	55660	genome.wustl.edu	37	2	153526757	153526757	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr2:153526757C>T	ENST00000410080.1	-	15	2159	c.1618G>A	c.(1618-1620)Gag>Aag	p.E540K		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	567	FF 3.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TGTAACTCCTCATCTTCTGCA	0.348																																																	0													109.0	98.0	102.0					2																	153526757		1855	4118	5973	SO:0001583	missense	55660			AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.1618G>A	2.37:g.153526757C>T	ENSP00000386458:p.Glu540Lys		O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,prints_Antifreeze_1,pfscan_WW_Rsp5_WWP	p.E540K	ENST00000410080.1	37	c.1618	CCDS46430.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.109104	0.94292	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961	T	0.26660	1.72	5.24	5.24	0.73138	FF domain (4);	0.000000	0.85682	D	0.000000	T	0.44095	0.1277	L	0.43923	1.385	0.80722	D	1	D;P	0.69078	0.997;0.891	D;P	0.79108	0.992;0.81	T	0.07481	-1.0770	10	0.26408	T	0.33	-17.127	19.1932	0.93675	0.0:1.0:0.0:0.0	.	567;540	O75400;E9PFS0	PR40A_HUMAN;.	K	540;549;436;487	ENSP00000386458:E540K	ENSP00000348770:E549K	E	-	1	0	PRPF40A	153235003	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.028000	0.70889	2.603000	0.88011	0.555000	0.69702	GAG	PRPF40A	-	pfam_FF_domain,superfamily_FF_domain,smart_FF_domain		0.348	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF40A	HGNC	protein_coding	OTTHUMT00000333559.2	C	XM_371575		153526757	-1	no_errors	ENST00000410080	ensembl	human	known	70_37	missense	SNP	1.000	T
PRPS2	5634	genome.wustl.edu	37	X	12838851	12838851	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:12838851G>T	ENST00000380668.5	+	6	921	c.793G>T	c.(793-795)Gcc>Tcc	p.A265S	PRPS2_ENST00000398491.2_Missense_Mutation_p.A268S	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	265					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						AAATAATGCCGCCTTTGAGGC	0.473																																																	0													108.0	90.0	96.0					X																	12838851		2203	4300	6503	SO:0001583	missense	5634			Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.793G>T	X.37:g.12838851G>T	ENSP00000370043:p.Ala265Ser		Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase	p.A268S	ENST00000380668.5	37	c.802	CCDS14150.1	X	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753967	0.31046	.	.	ENSG00000101911	ENST00000380668;ENST00000398491;ENST00000461630;ENST00000460220	D;D;T	0.91631	-2.88;-2.88;-0.6	4.88	1.89	0.25635	.	0.181258	0.48767	N	0.000166	D	0.83557	0.5280	N	0.26042	0.785	0.34230	D	0.676448	B;B	0.06786	0.001;0.001	B;B	0.11329	0.002;0.006	T	0.73802	-0.3868	10	0.13108	T	0.6	-12.106	10.0936	0.42462	0.0:0.1223:0.4928:0.3849	.	265;268	P11908;P11908-2	PRPS2_HUMAN;.	S	265;268;120;97	ENSP00000370043:A265S;ENSP00000381504:A268S;ENSP00000418911:A120S	ENSP00000370043:A265S	A	+	1	0	PRPS2	12748772	0.001000	0.12720	0.244000	0.24202	0.971000	0.66376	0.563000	0.23547	0.042000	0.15717	0.468000	0.43344	GCC	PRPS2	-	tigrfam_Rib-P_diPkinase		0.473	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRPS2	HGNC	protein_coding	OTTHUMT00000055772.2	G	NM_002765		12838851	+1	no_errors	ENST00000398491	ensembl	human	known	70_37	missense	SNP	0.185	T
PTGS2	5743	genome.wustl.edu	37	1	186646909	186646909	+	Silent	SNP	T	T	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:186646909T>G	ENST00000367468.5	-	5	647	c.511A>C	c.(511-513)Aga>Cga	p.R171R	PTGS2_ENST00000490885.2_5'UTR|RP5-973M2.2_ENST00000608917.1_lincRNA	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	171					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	ATGAACTTTCTTCTTAGAAGC	0.403																																																	0													100.0	101.0	100.0					1																	186646909		2203	4300	6503	SO:0001819	synonymous_variant	5743			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.511A>C	1.37:g.186646909T>G			A8K802|Q16876	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R171	ENST00000367468.5	37	c.511	CCDS1371.1	1																																																																																			PTGS2	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.403	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS2	HGNC	protein_coding	OTTHUMT00000086157.2	T	NM_000963		186646909	-1	no_errors	ENST00000367468	ensembl	human	known	70_37	silent	SNP	1.000	G
QSOX2	169714	genome.wustl.edu	37	9	139113694	139113694	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr9:139113694C>A	ENST00000358701.5	-	6	806	c.769G>T	c.(769-771)Gtc>Ttc	p.V257F		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	257					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CACGAAGGGACTGAAGAAACA	0.547																																																	0													155.0	141.0	146.0					9																	139113694		2203	4300	6503	SO:0001583	missense	169714			AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.769G>T	9.37:g.139113694C>A	ENSP00000351536:p.Val257Phe		A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold	p.V257F	ENST00000358701.5	37	c.769	CCDS35178.1	9	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.580794	0.00879	.	.	ENSG00000165661	ENST00000358701	T	0.19105	2.17	4.65	0.482	0.16815	.	0.358681	0.28742	N	0.014286	T	0.10723	0.0262	L	0.31120	0.905	0.41530	D	0.988456	B	0.28667	0.219	B	0.25506	0.061	T	0.29488	-1.0010	10	0.02654	T	1	-5.4774	9.7356	0.40386	0.0:0.5214:0.4032:0.0754	.	257	Q6ZRP7	QSOX2_HUMAN	F	257	ENSP00000351536:V257F	ENSP00000351536:V257F	V	-	1	0	QSOX2	138253515	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.702000	0.05069	-0.107000	0.12088	0.655000	0.94253	GTC	QSOX2	-	NULL		0.547	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX2	HGNC	protein_coding	OTTHUMT00000055046.2	C	NM_181701		139113694	-1	no_errors	ENST00000358701	ensembl	human	known	70_37	missense	SNP	0.601	A
RAD21	5885	genome.wustl.edu	37	8	117864207	117864207	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:117864207C>G	ENST00000297338.2	-	11	1737	c.1450G>C	c.(1450-1452)Gac>Cac	p.D484H	RAD21_ENST00000517749.1_5'Flank|RAD21_ENST00000518055.1_Missense_Mutation_p.D29H|RAD21_ENST00000523986.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	484	Pro-rich.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GGCTCTGGGTCAATTTGTCCA	0.463																																																	0													138.0	123.0	128.0					8																	117864207		2203	4300	6503	SO:0001583	missense	5885			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1450G>C	8.37:g.117864207C>G	ENSP00000297338:p.Asp484His		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA	p.D484H	ENST00000297338.2	37	c.1450	CCDS6321.1	8	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417179	0.62511	.	.	ENSG00000164754	ENST00000297338;ENST00000518055	T;T	0.66099	0.65;-0.19	5.7	5.7	0.88788	.	0.087235	0.85682	D	0.000000	T	0.60495	0.2273	L	0.51422	1.61	0.58432	D	0.999999	B	0.32968	0.392	B	0.33042	0.157	T	0.57556	-0.7791	10	0.35671	T	0.21	-17.336	19.8429	0.96697	0.0:1.0:0.0:0.0	.	484	O60216	RAD21_HUMAN	H	484;29	ENSP00000297338:D484H;ENSP00000428003:D29H	ENSP00000297338:D484H	D	-	1	0	RAD21	117933388	1.000000	0.71417	0.966000	0.40874	0.917000	0.54804	7.466000	0.80914	2.685000	0.91497	0.650000	0.86243	GAC	RAD21	-	NULL		0.463	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21	HGNC	protein_coding	OTTHUMT00000381184.1	C	NM_006265		117864207	-1	no_errors	ENST00000297338	ensembl	human	known	70_37	missense	SNP	1.000	G
RGL2	5863	genome.wustl.edu	37	6	33266252	33266252	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr6:33266252C>G	ENST00000497454.1	-	2	631	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	RGL2_ENST00000437840.2_Intron|RGL2_ENST00000444031.2_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	46					positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						tcctcctcctcttcctcctGC	0.637																																																	0													3.0	4.0	4.0					6																	33266252		1972	3907	5879	SO:0001583	missense	5863				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.136G>C	6.37:g.33266252C>G	ENSP00000420211:p.Glu46Gln		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E46Q	ENST00000497454.1	37	c.136	CCDS4774.1	6	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905587	0.52333	.	.	ENSG00000237441	ENST00000497454;ENST00000425946	T	0.11930	2.73	4.83	4.83	0.62350	.	0.616579	0.14510	N	0.315146	T	0.04092	0.0114	L	0.36672	1.1	0.80722	D	1	P	0.36974	0.576	B	0.28232	0.087	T	0.36578	-0.9742	10	0.14252	T	0.57	.	13.2872	0.60249	0.0:1.0:0.0:0.0	.	46	O15211	RGL2_HUMAN	Q	46	ENSP00000420211:E46Q	ENSP00000392918:E46Q	E	-	1	0	RGL2	33374230	0.999000	0.42202	1.000000	0.80357	0.954000	0.61252	1.827000	0.39102	2.516000	0.84829	0.579000	0.79373	GAG	RGL2	-	NULL		0.637	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL2	HGNC	protein_coding	OTTHUMT00000076098.2	C			33266252	-1	no_errors	ENST00000497454	ensembl	human	known	70_37	missense	SNP	1.000	G
RTKN2	219790	genome.wustl.edu	37	10	64022535	64022535	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr10:64022535C>T	ENST00000373789.3	-	2	202	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	RTKN2_ENST00000395265.1_Missense_Mutation_p.E36K|RTKN2_ENST00000395260.3_Missense_Mutation_p.E36K	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	36					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CATATTCCTTCTCGCATTCGA	0.343																																																	0													107.0	92.0	97.0					10																	64022535		2203	4300	6503	SO:0001583	missense	219790			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.106G>A	10.37:g.64022535C>T	ENSP00000362894:p.Glu36Lys		Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E36K	ENST00000373789.3	37	c.106	CCDS7263.1	10	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703927	0.68501	.	.	ENSG00000182010	ENST00000395265;ENST00000373789;ENST00000395260	T;T;T	0.42900	0.99;0.96;2.11	5.52	4.6	0.57074	.	0.092240	0.85682	D	0.000000	T	0.47116	0.1428	M	0.76574	2.34	0.47009	D	0.999289	B;B	0.23377	0.084;0.051	B;B	0.21917	0.037;0.016	T	0.49925	-0.8887	10	0.59425	D	0.04	21.9559	16.2625	0.82553	0.0:0.8667:0.1333:0.0	.	36;36	Q8IZC4-3;Q8IZC4	.;RTKN2_HUMAN	K	36	ENSP00000378682:E36K;ENSP00000362894:E36K;ENSP00000378678:E36K	ENSP00000362894:E36K	E	-	1	0	RTKN2	63692541	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.077000	0.57598	1.424000	0.47217	0.655000	0.94253	GAA	RTKN2	-	superfamily_HR1_rho-bd,smart_HR1_rho-bd		0.343	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RTKN2	HGNC	protein_coding	OTTHUMT00000091618.1	C	NM_145307		64022535	-1	no_errors	ENST00000373789	ensembl	human	known	70_37	missense	SNP	1.000	T
RUNX1T1	862	genome.wustl.edu	37	8	93023292	93023292	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:93023292G>A	ENST00000523629.1	-	5	950	c.496C>T	c.(496-498)Cat>Tat	p.H166Y	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H129Y|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H139Y|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.H129Y|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H166Y|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H177Y|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H129Y|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H129Y|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H139Y	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	166	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AGTTTGGAATGAAATTCTTCA	0.318																																																	0													119.0	117.0	118.0					8																	93023292		2203	4300	6503	SO:0001583	missense	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.496C>T	8.37:g.93023292G>A	ENSP00000428543:p.His166Tyr		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.H177Y	ENST00000523629.1	37	c.529	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.298541	0.95574	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054;ENST00000519847	T;T;T;T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.87	5.87	0.94306	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.76494	0.995;0.999;0.996;0.999;0.995	D;D;D;D;D	0.85130	0.967;0.996;0.978;0.997;0.963	T	0.67945	-0.5539	10	0.72032	D	0.01	-15.7859	20.5827	0.99408	0.0:0.0:1.0:0.0	.	177;177;139;166;139	E7EPN4;B7Z4P4;B2R6I9;Q06455;Q06455-2	.;.;.;MTG8_HUMAN;.	Y	166;139;166;129;129;129;177;139;129;166;129;166	ENSP00000428543:H166Y;ENSP00000379520:H139Y;ENSP00000265814:H166Y;ENSP00000353504:H129Y;ENSP00000390137:H129Y;ENSP00000428742:H129Y;ENSP00000402257:H177Y;ENSP00000430728:H139Y;ENSP00000429728:H129Y;ENSP00000431094:H166Y;ENSP00000427763:H129Y;ENSP00000430204:H166Y	ENSP00000265814:H166Y	H	-	1	0	RUNX1T1	93092468	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	CAT	RUNX1T1	-	pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1,prints_ETO		0.318	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	G	NM_004349, NM_175635		93023292	-1	no_errors	ENST00000436581	ensembl	human	known	70_37	missense	SNP	1.000	A
S100A14	57402	genome.wustl.edu	37	1	153588400	153588400	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:153588400G>C	ENST00000368702.1	-	0	207				S100A14_ENST00000344616.2_De_novo_Start_OutOfFrame|S100A13_ENST00000491177.1_5'Flank|S100A14_ENST00000476873.1_De_novo_Start_OutOfFrame|S100A16_ENST00000474991.1_5'Flank|S100A16_ENST00000368706.4_5'Flank|S100A14_ENST00000368700.3_5'UTR|S100A14_ENST00000368701.1_De_novo_Start_OutOfFrame			Q9HCY8	S10AE_HUMAN	S100 calcium binding protein A14						apoptotic process (GO:0006915)|calcium ion homeostasis (GO:0055074)|defense response to bacterium (GO:0042742)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)	extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|chemokine receptor binding (GO:0042379)			kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAGGAGCTGATGGCTCATG	0.557																																																	0													115.0	101.0	105.0					1																	153588400		692	1591	2283			57402			AY007220	CCDS1046.1	1q21.1	2008-02-05			ENSG00000189334	ENSG00000189334		"""S100 calcium binding proteins"""	18901	protein-coding gene	gene with protein product		607986				11944983	Standard	NM_020672		Approved	S100A15, BCMP84	uc001fce.3	Q9HCY8	OTTHUMG00000035030	ENST00000368702.1:c.-66C>G	1.37:g.153588400G>C			Q5RHT0	RNA	SNP	-	NULL	ENST00000368702.1	37	NULL	CCDS1046.1	1																																																																																			S100A14	-	-		0.557	S100A14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A14	HGNC	protein_coding	OTTHUMT00000084788.2	G	NM_020672		153588400	-1	no_errors	ENST00000368700	ensembl	human	known	70_37	rna	SNP	0.361	C
SCN1A	6323	genome.wustl.edu	37	2	166894582	166894582	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr2:166894582C>T	ENST00000303395.4	-	15	2649	c.2650G>A	c.(2650-2652)Ggc>Agc	p.G884S	SCN1A_ENST00000375405.3_Missense_Mutation_p.G873S|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.G856S|SCN1A_ENST00000423058.2_Missense_Mutation_p.G884S|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	884					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACGGAATTGCCGATGATCTTT	0.403																																																	0													61.0	63.0	62.0					2																	166894582		2203	4300	6503	SO:0001583	missense	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2650G>A	2.37:g.166894582C>T	ENSP00000303540:p.Gly884Ser		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.G884S	ENST00000303395.4	37	c.2650	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634952	0.87760	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	4.93	4.93	0.64822	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.98902	0.9628	M	0.63169	1.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.989	D;D;P	0.91635	0.999;0.999;0.745	D	0.99905	1.1175	10	0.87932	D	0	.	18.5005	0.90879	0.0:1.0:0.0:0.0	.	873;856;884	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	S	884;884;873;856	ENSP00000407030:G884S;ENSP00000303540:G884S;ENSP00000364554:G873S;ENSP00000386312:G856S	ENSP00000303540:G884S	G	-	1	0	SCN1A	166602828	1.000000	0.71417	0.992000	0.48379	0.583000	0.36354	7.726000	0.84824	2.437000	0.82529	0.591000	0.81541	GGC	SCN1A	-	pfam_Ion_trans_dom		0.403	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	C	NM_006920		166894582	-1	no_errors	ENST00000303395	ensembl	human	known	70_37	missense	SNP	1.000	T
SDK2	54549	genome.wustl.edu	37	17	71427680	71427680	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:71427680G>A	ENST00000392650.3	-	11	1441	c.1441C>T	c.(1441-1443)Cgg>Tgg	p.R481W	SDK2_ENST00000388726.3_Missense_Mutation_p.R481W	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	481	Ig-like C2-type 5.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCGACCCCCCGAGAGTTGGTG	0.607																																																	0													153.0	152.0	152.0					17																	71427680		2203	4300	6503	SO:0001583	missense	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1441C>T	17.37:g.71427680G>A	ENSP00000376421:p.Arg481Trp		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R481W	ENST00000392650.3	37	c.1441	CCDS45769.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.19|19.19	3.779141|3.779141	0.70107|0.70107	.|.	.|.	ENSG00000069188|ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893|ENST00000416616	T;T|.	0.67171|.	-0.25;-0.25|.	4.93|4.93	1.57|1.57	0.23409|0.23409	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.065910|.	0.64402|.	D|.	0.000018|.	T|T	0.48909|0.48909	0.1526|0.1526	N|N	0.25890|0.25890	0.77|0.77	0.53005|0.53005	D|D	0.999967|0.999967	D;D|.	0.76494|.	0.997;0.999|.	P;P|.	0.61658|.	0.663;0.892|.	T|T	0.24190|0.24190	-1.0167|-1.0167	10|6	0.56958|0.24483	D|T	0.05|0.36	.|.	13.0188|13.0188	0.58773|0.58773	0.0:0.0:0.577:0.423|0.0:0.0:0.577:0.423	.|.	481;481|.	Q58EX2-2;Q58EX2|.	.;SDK2_HUMAN|.	W|L	105;481;481;481|385	ENSP00000376421:R481W;ENSP00000373378:R481W|.	ENSP00000324967:R481W|ENSP00000400371:S385L	R|S	-|-	1|2	2|0	SDK2|SDK2	68939275|68939275	0.995000|0.995000	0.38212|0.38212	0.580000|0.580000	0.28601|0.28601	0.889000|0.889000	0.51656|0.51656	2.366000|2.366000	0.44204|0.44204	0.064000|0.064000	0.16427|0.16427	0.467000|0.467000	0.42956|0.42956	CGG|TCG	SDK2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.607	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	G	NM_019064		71427680	-1	no_errors	ENST00000392650	ensembl	human	known	70_37	missense	SNP	0.826	A
SELENBP1	8991	genome.wustl.edu	37	1	151337064	151337064	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:151337064C>A	ENST00000368868.5	-	12	1465	c.1374G>T	c.(1372-1374)gaG>gaT	p.E458D	SELENBP1_ENST00000426705.2_Missense_Mutation_p.E500D|SELENBP1_ENST00000447402.3_Missense_Mutation_p.E396D|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000435071.1_Missense_Mutation_p.E394D	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	458					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)	p.E458E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTAGCGGAGCTCATGGGCAA	0.567																																																	1	Substitution - coding silent(1)	lung(1)											115.0	118.0	117.0					1																	151337064		2203	4300	6503	SO:0001583	missense	8991			U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.1374G>T	1.37:g.151337064C>A	ENSP00000357861:p.Glu458Asp		A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	pfam_Se-bd	p.E458D	ENST00000368868.5	37	c.1374	CCDS995.1	1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638951	0.47153	.	.	ENSG00000143416	ENST00000368868;ENST00000447402;ENST00000435071	.	.	.	4.86	3.0	0.34707	.	0.000000	0.85682	D	0.000000	T	0.71651	0.3365	M	0.89601	3.045	0.80722	D	1	D;B;D;B	0.76494	0.997;0.329;0.999;0.175	D;B;D;B	0.79108	0.992;0.246;0.988;0.246	T	0.71948	-0.4438	9	0.44086	T	0.13	-30.5397	7.242	0.26102	0.0:0.6996:0.1383:0.1621	.	396;311;394;458	B4E1F3;B4DPI7;Q13228-2;Q13228	.;.;.;SBP1_HUMAN	D	458;396;394	.	ENSP00000357861:E458D	E	-	3	2	SELENBP1	149603688	0.972000	0.33761	0.994000	0.49952	0.853000	0.48598	1.206000	0.32321	0.462000	0.27095	-0.355000	0.07637	GAG	SELENBP1	-	pfam_Se-bd		0.567	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELENBP1	HGNC	protein_coding	OTTHUMT00000034904.4	C			151337064	-1	no_errors	ENST00000368868	ensembl	human	known	70_37	missense	SNP	1.000	A
SFXN1	94081	genome.wustl.edu	37	5	174940540	174940540	+	Missense_Mutation	SNP	A	A	C			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr5:174940540A>C	ENST00000321442.5	+	7	925	c.671A>C	c.(670-672)cAa>cCa	p.Q224P		NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	224					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCTGCGAAACAAGCCATCACG	0.517																																																	0													112.0	101.0	105.0					5																	174940540		2203	4300	6503	SO:0001583	missense	94081			AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"""Sideroflexins"""	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.671A>C	5.37:g.174940540A>C	ENSP00000316905:p.Gln224Pro		B3KPW3|D3DQN2|Q9HA53	Missense_Mutation	SNP	pfam_Mtc,tigrfam_Mtc	p.Q224P	ENST00000321442.5	37	c.671	CCDS4394.1	5	.	.	.	.	.	.	.	.	.	.	A	14.89	2.669371	0.47677	.	.	ENSG00000164466	ENST00000321442	T	0.30981	1.51	4.95	4.95	0.65309	.	0.108090	0.64402	D	0.000003	T	0.48447	0.1500	M	0.73217	2.22	0.80722	D	1	P	0.48834	0.916	P	0.57009	0.811	T	0.43556	-0.9384	10	0.34782	T	0.22	-4.2782	14.0874	0.64968	1.0:0.0:0.0:0.0	.	224	Q9H9B4	SFXN1_HUMAN	P	224	ENSP00000316905:Q224P	ENSP00000316905:Q224P	Q	+	2	0	SFXN1	174873146	1.000000	0.71417	0.979000	0.43373	0.032000	0.12392	9.037000	0.93765	1.971000	0.57363	0.379000	0.24179	CAA	SFXN1	-	pfam_Mtc,tigrfam_Mtc		0.517	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN1	HGNC	protein_coding	OTTHUMT00000252980.2	A	NM_022754		174940540	+1	no_errors	ENST00000321442	ensembl	human	known	70_37	missense	SNP	1.000	C
SGK223	157285	genome.wustl.edu	37	8	8185888	8185888	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:8185888C>T	ENST00000520004.1	-	5	2668	c.2404G>A	c.(2404-2406)Gtg>Atg	p.V802M	SGK223_ENST00000330777.4_Missense_Mutation_p.V802M			Q86YV5	SG223_HUMAN		804							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTGGGGGACACGTCCTCAGTG	0.622																																					GBM(34;731 755 10259 33573 33867)												0													30.0	37.0	34.0					8																	8185888		1926	4123	6049	SO:0001583	missense	157285																														ENST00000520004.1:c.2404G>A	8.37:g.8185888C>T	ENSP00000428054:p.Val802Met		Q8N3N5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.V802M	ENST00000520004.1	37	c.2404	CCDS43706.1	8	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689123	0.29962	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.57273	0.41;0.41	5.5	3.68	0.42216	.	0.445667	0.20557	N	0.089992	T	0.40670	0.1126	L	0.44542	1.39	0.25662	N	0.985996	B	0.26081	0.141	B	0.12156	0.007	T	0.32295	-0.9912	10	0.46703	T	0.11	.	8.4463	0.32843	0.0:0.7602:0.0:0.2398	.	802	Q86YV5	SG223_HUMAN	M	802	ENSP00000330930:V802M;ENSP00000428054:V802M	ENSP00000330930:V802M	V	-	1	0	AC068353.1	8223298	0.001000	0.12720	0.997000	0.53966	0.743000	0.42351	0.319000	0.19522	1.464000	0.47987	0.563000	0.77884	GTG	SGK223	-	NULL		0.622	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	Uniprot_genename	protein_coding	OTTHUMT00000374864.1	C			8185888	-1	no_errors	ENST00000330777	ensembl	human	known	70_37	missense	SNP	0.966	T
SLC30A5	64924	genome.wustl.edu	37	5	68409018	68409018	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr5:68409018G>C	ENST00000396591.3	+	6	1109	c.499G>C	c.(499-501)Gac>Cac	p.D167H	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	167					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		ATTGCTTTTTGACAATGATGA	0.363																																																	0													159.0	143.0	148.0					5																	68409018		2203	4300	6503	SO:0001583	missense	64924			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.499G>C	5.37:g.68409018G>C	ENSP00000379836:p.Asp167His		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.D167H	ENST00000396591.3	37	c.499	CCDS3996.1	5	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799977	0.90538	.	.	ENSG00000145740	ENST00000396591	T	0.67698	-0.28	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.80681	0.4669	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.83343	-0.0007	10	0.87932	D	0	6.4508	17.6417	0.88138	0.0:0.0:1.0:0.0	.	167	Q8TAD4	ZNT5_HUMAN	H	167	ENSP00000379836:D167H	ENSP00000379836:D167H	D	+	1	0	SLC30A5	68444774	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	9.741000	0.98843	2.319000	0.78375	0.655000	0.94253	GAC	SLC30A5	-	NULL		0.363	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	HGNC	protein_coding	OTTHUMT00000254017.2	G			68409018	+1	no_errors	ENST00000396591	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC4A1	6521	genome.wustl.edu	37	17	42337837	42337837	+	Silent	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:42337837G>A	ENST00000262418.6	-	6	575	c.420C>T	c.(418-420)atC>atT	p.I140I	SLC4A1_ENST00000471005.1_5'UTR|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	140	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGTCTTCAAAGATAAACCTGT	0.597																																																	0													61.0	56.0	58.0					17																	42337837		2203	4300	6503	SO:0001819	synonymous_variant	6521				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.420C>T	17.37:g.42337837G>A			G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk	p.I140	ENST00000262418.6	37	c.420	CCDS11481.1	17																																																																																			SLC4A1	-	pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk		0.597	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1	HGNC	protein_coding	OTTHUMT00000346194.1	G	NM_000342		42337837	-1	no_errors	ENST00000262418	ensembl	human	known	70_37	silent	SNP	0.991	A
SLC6A17	388662	genome.wustl.edu	37	1	110734758	110734758	+	Silent	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:110734758G>A	ENST00000331565.4	+	7	1514	c.1029G>A	c.(1027-1029)acG>acA	p.T343T		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	343					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)	p.T343T(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ACTTCTTCACGTCAGTGTTGG	0.537																																																	1	Substitution - coding silent(1)	large_intestine(1)											192.0	136.0	155.0					1																	110734758		2203	4300	6503	SO:0001819	synonymous_variant	388662				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1029G>A	1.37:g.110734758G>A			A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.T343	ENST00000331565.4	37	c.1029	CCDS30799.1	1																																																																																			SLC6A17	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport		0.537	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	HGNC	protein_coding	OTTHUMT00000032550.2	G	XM_371280		110734758	+1	no_errors	ENST00000331565	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC7A14	57709	genome.wustl.edu	37	3	170204044	170204044	+	Silent	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:170204044G>A	ENST00000231706.5	-	5	1188	c.873C>T	c.(871-873)gcC>gcT	p.A291A	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	291					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGACCAGGGAGGCAGTGATAG	0.537																																																	0													310.0	225.0	254.0					3																	170204044		2203	4300	6503	SO:0001819	synonymous_variant	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.873C>T	3.37:g.170204044G>A			B3KV33|Q9HCF9	Silent	SNP	pfam_AA-permease_dom	p.A291	ENST00000231706.5	37	c.873	CCDS33892.1	3																																																																																			SLC7A14	-	pfam_AA-permease_dom		0.537	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	G	NM_020949		170204044	-1	no_errors	ENST00000231706	ensembl	human	known	70_37	silent	SNP	1.000	A
SMCHD1	23347	genome.wustl.edu	37	18	2738531	2738531	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr18:2738531C>T	ENST00000320876.6	+	26	3751	c.3413C>T	c.(3412-3414)gCg>gTg	p.A1138V	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.A1138V	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1138					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTGGAAAGTGCGTTTACAGTA	0.378																																																	0													148.0	133.0	138.0					18																	2738531		1888	4117	6005	SO:0001583	missense	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3413C>T	18.37:g.2738531C>T	ENSP00000326603:p.Ala1138Val		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.A1138V	ENST00000320876.6	37	c.3413	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292723	0.59976	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.26957	1.7;1.71	5.22	4.32	0.51571	.	0.061589	0.64402	D	0.000004	T	0.27489	0.0675	L	0.57536	1.79	0.32419	N	0.549559	B	0.28783	0.222	B	0.23275	0.045	T	0.39078	-0.9631	10	0.72032	D	0.01	-6.1896	15.0782	0.72093	0.0:0.731:0.269:0.0	.	1138	A6NHR9	SMHD1_HUMAN	V	1138	ENSP00000326603:A1138V;ENSP00000261598:A1138V	ENSP00000261598:A1138V	A	+	2	0	SMCHD1	2728531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.977000	0.49297	1.274000	0.44362	0.585000	0.79938	GCG	SMCHD1	-	NULL		0.378	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	C			2738531	+1	no_errors	ENST00000320876	ensembl	human	known	70_37	missense	SNP	0.998	T
SMCHD1	23347	genome.wustl.edu	37	18	2740790	2740790	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr18:2740790G>A	ENST00000320876.6	+	28	3942	c.3604G>A	c.(3604-3606)Gat>Aat	p.D1202N	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.D1202N	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1202					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GGTTGGACTTGATAGCTCAAA	0.318																																																	0													113.0	115.0	115.0					18																	2740790		1818	4062	5880	SO:0001583	missense	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3604G>A	18.37:g.2740790G>A	ENSP00000326603:p.Asp1202Asn		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.D1202N	ENST00000320876.6	37	c.3604	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099230	0.56183	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.32272	1.46;1.46	5.33	4.45	0.53987	.	0.104953	0.64402	D	0.000007	T	0.24198	0.0586	L	0.34521	1.04	0.34284	D	0.682466	B	0.10296	0.003	B	0.08055	0.003	T	0.18461	-1.0336	10	0.36615	T	0.2	-18.907	13.7604	0.62961	0.0742:0.0:0.9258:0.0	.	1202	A6NHR9	SMHD1_HUMAN	N	1202	ENSP00000326603:D1202N;ENSP00000261598:D1202N	ENSP00000261598:D1202N	D	+	1	0	SMCHD1	2730790	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.028000	0.64115	2.654000	0.90174	0.650000	0.86243	GAT	SMCHD1	-	NULL		0.318	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	G			2740790	+1	no_errors	ENST00000320876	ensembl	human	known	70_37	missense	SNP	1.000	A
SPAG1	6674	genome.wustl.edu	37	8	101196925	101196925	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:101196925C>G	ENST00000388798.2	+	7	856	c.665C>G	c.(664-666)tCa>tGa	p.S222*	SPAG1_ENST00000520508.1_Nonsense_Mutation_p.S222*|SPAG1_ENST00000251809.3_Nonsense_Mutation_p.S222*|SPAG1_ENST00000520643.1_Nonsense_Mutation_p.S222*|Y_RNA_ENST00000362797.1_RNA	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	222					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GCTTTCAACTCAGGAGATTAT	0.328																																																	0													109.0	109.0	109.0					8																	101196925		2203	4300	6503	SO:0001587	stop_gained	6674			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.665C>G	8.37:g.101196925C>G	ENSP00000373450:p.Ser222*		A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Nonsense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S222*	ENST00000388798.2	37	c.665	CCDS34930.1	8	.	.	.	.	.	.	.	.	.	.	C	38	6.849917	0.97885	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	.	.	.	5.59	4.72	0.59763	.	0.769209	0.12039	N	0.505236	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-3.582	13.1961	0.59738	0.0:0.922:0.0:0.078	.	.	.	.	X	222	.	ENSP00000251809:S222X	S	+	2	0	SPAG1	101266101	0.679000	0.27596	0.482000	0.27366	0.979000	0.70002	1.828000	0.39111	1.375000	0.46248	0.591000	0.81541	TCA	SPAG1	-	smart_TPR_repeat		0.328	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG1	HGNC	protein_coding	OTTHUMT00000379853.2	C	NM_172218		101196925	+1	no_errors	ENST00000251809	ensembl	human	known	70_37	nonsense	SNP	0.367	G
SPANXN2	494119	genome.wustl.edu	37	X	142795166	142795166	+	Missense_Mutation	SNP	T	T	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:142795166T>G	ENST00000370498.1	-	2	1265	c.512A>C	c.(511-513)gAa>gCa	p.E171A		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	171										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGATCCTTCAGATGAGTC	0.473																																																	0													262.0	234.0	243.0					X																	142795166		2203	4300	6503	SO:0001583	missense	494119				CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.512A>C	X.37:g.142795166T>G	ENSP00000359529:p.Glu171Ala		Q0ZNM2	Missense_Mutation	SNP	pfam_SPANX_prot	p.E171A	ENST00000370498.1	37	c.512	CCDS35419.1	X	.	.	.	.	.	.	.	.	.	.	t	6.548	0.469455	0.12461	.	.	ENSG00000203924	ENST00000370498	T	0.08370	3.1	0.63	-1.25	0.09405	.	.	.	.	.	T	0.06872	0.0175	M	0.63843	1.955	0.09310	N	1	P	0.36222	0.544	B	0.23150	0.044	T	0.20075	-1.0286	8	0.59425	D	0.04	.	.	.	.	.	171	Q5MJ10	SPXN2_HUMAN	A	171	ENSP00000359529:E171A	ENSP00000359529:E171A	E	-	2	0	SPANXN2	142622832	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.177000	0.09796	-0.482000	0.06782	0.235000	0.17854	GAA	SPANXN2	-	NULL		0.473	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN2	HGNC	protein_coding	OTTHUMT00000058621.2	T	NM_001009615		142795166	-1	no_errors	ENST00000370498	ensembl	human	known	70_37	missense	SNP	0.001	G
SPANXN2	494119	genome.wustl.edu	37	X	142795177	142795177	+	Silent	SNP	T	T	C	rs145743231		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:142795177T>C	ENST00000370498.1	-	2	1254	c.501A>G	c.(499-501)ctA>ctG	p.L167L		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	167										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CAGATGAGTCTAGGTCTTCGT	0.493																																																	0													287.0	257.0	267.0					X																	142795177		2203	4300	6503	SO:0001819	synonymous_variant	494119				CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.501A>G	X.37:g.142795177T>C			Q0ZNM2	Silent	SNP	pfam_SPANX_prot	p.L167	ENST00000370498.1	37	c.501	CCDS35419.1	X																																																																																			SPANXN2	-	NULL		0.493	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN2	HGNC	protein_coding	OTTHUMT00000058621.2	T	NM_001009615		142795177	-1	no_errors	ENST00000370498	ensembl	human	known	70_37	silent	SNP	0.004	C
SPP2	6694	genome.wustl.edu	37	2	234975918	234975918	+	Splice_Site	SNP	G	G	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr2:234975918G>T	ENST00000168148.3	+	6	638	c.550G>T	c.(550-552)Ggg>Tgg	p.G184W	SPP2_ENST00000373368.1_Splice_Site_p.G184W	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	184					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		TCGGTCACTTGGTAAGTGATT	0.403																																																	0													173.0	164.0	167.0					2																	234975918		2203	4300	6503	SO:0001630	splice_region_variant	6694				CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.550+1G>T	2.37:g.234975918G>T			A4QMV3|Q3B892|Q546M5	Missense_Mutation	SNP	pfam_Spp-24,pfam_Prot_inh_cystat	p.G184W	ENST00000168148.3	37	c.550	CCDS2511.1	2	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958243	0.53400	.	.	ENSG00000072080	ENST00000373368;ENST00000168148;ENST00000425558	T;T	0.50548	0.74;0.74	3.3	3.3	0.37823	.	0.716634	0.12602	N	0.454635	T	0.33265	0.0857	N	0.08118	0	0.26683	N	0.971508	P	0.38922	0.651	B	0.43575	0.424	T	0.21861	-1.0233	10	0.72032	D	0.01	-5.3665	10.3966	0.44205	0.0:0.0:1.0:0.0	.	184	Q13103	SPP24_HUMAN	W	184;184;104	ENSP00000362466:G184W;ENSP00000168148:G184W	ENSP00000168148:G184W	G	+	1	0	SPP2	234640657	0.996000	0.38824	0.899000	0.35326	0.275000	0.26752	3.794000	0.55492	2.161000	0.67846	0.543000	0.68304	GGG	SPP2	-	pfam_Spp-24		0.403	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPP2	HGNC	protein_coding	OTTHUMT00000131313.3	G	NM_006944	Missense_Mutation	234975918	+1	no_errors	ENST00000168148	ensembl	human	known	70_37	missense	SNP	0.898	T
SPTBN2	6712	genome.wustl.edu	37	11	66461714	66461714	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:66461714C>A	ENST00000533211.1	-	22	4730	c.4399G>T	c.(4399-4401)Gag>Tag	p.E1467*	SPTBN2_ENST00000309996.2_Nonsense_Mutation_p.E1467*|SPTBN2_ENST00000529997.1_Nonsense_Mutation_p.E1467*			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1467					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AACTTCTCCTCCACGGCCCTC	0.647											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													65.0	61.0	62.0					11																	66461714		2200	4295	6495	SO:0001587	stop_gained	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4399G>T	11.37:g.66461714C>A	ENSP00000432568:p.Glu1467*	1092	O14872|O14873	Nonsense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E1467*	ENST00000533211.1	37	c.4399	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	C	42	9.485669	0.99184	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	.	.	.	4.63	4.63	0.57726	.	0.119371	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	16.4261	0.83815	0.0:1.0:0.0:0.0	.	.	.	.	X	1467	.	ENSP00000311489:E1467X	E	-	1	0	SPTBN2	66218290	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	4.778000	0.62368	2.397000	0.81536	0.563000	0.77884	GAG	SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.647	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	C	NM_006946		66461714	-1	no_errors	ENST00000309996	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SPTBN2	6712	genome.wustl.edu	37	11	66461724	66461724	+	Silent	SNP	C	C	G	rs558713638		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:66461724C>G	ENST00000533211.1	-	22	4720	c.4389G>C	c.(4387-4389)tcG>tcC	p.S1463S	SPTBN2_ENST00000309996.2_Silent_p.S1463S|SPTBN2_ENST00000529997.1_Silent_p.S1463S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1463					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCACGGCCCTCGAGGTTCTCT	0.662											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001819	synonymous_variant	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4389G>C	11.37:g.66461724C>G		1092	O14872|O14873	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.S1463	ENST00000533211.1	37	c.4389	CCDS8150.1	11																																																																																			SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.662	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	C	NM_006946		66461724	-1	no_errors	ENST00000309996	ensembl	human	known	70_37	silent	SNP	0.000	G
SSPO	23145	genome.wustl.edu	37	7	149515801	149515801	+	RNA	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr7:149515801G>A	ENST00000378016.2	+	0	11702							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)			GACCCCGCTCGCCCTGCATGG	0.687																																																	0													16.0	19.0	18.0					7																	149515801		1989	4149	6138			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.149515801G>A			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.687	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		G			149515801	+1	no_errors	ENST00000378016	ensembl	human	known	70_37	rna	SNP	0.000	A
STAT2	6773	genome.wustl.edu	37	12	56748582	56748582	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr12:56748582C>G	ENST00000314128.4	-	7	636	c.613G>C	c.(613-615)Gaa>Caa	p.E205Q	STAT2_ENST00000557235.1_Missense_Mutation_p.E201Q|RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000418572.2_Missense_Mutation_p.E201Q			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	205					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TTGTCCAGTTCATTGAGAGTT	0.537																																																	0													229.0	224.0	226.0					12																	56748582		2203	4300	6503	SO:0001583	missense	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.613G>C	12.37:g.56748582C>G	ENSP00000315768:p.Glu205Gln		B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.E205Q	ENST00000314128.4	37	c.613	CCDS8917.1	12	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452093	0.26074	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000418572	T;T;T	0.59772	0.24;0.24;0.24	4.69	3.78	0.43462	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.735961	0.13517	N	0.381979	T	0.63977	0.2557	L	0.55481	1.735	0.26921	N	0.966674	B;B;D	0.63046	0.171;0.253;0.992	B;B;P	0.61477	0.119;0.103;0.889	T	0.52328	-0.8590	10	0.15499	T	0.54	-6.6918	9.35	0.38131	0.0:0.9001:0.0:0.0999	.	201;201;205	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	Q	205;201;201	ENSP00000315768:E205Q;ENSP00000450751:E201Q;ENSP00000387354:E201Q	ENSP00000315768:E205Q	E	-	1	0	STAT2	55034849	0.866000	0.29940	1.000000	0.80357	0.925000	0.55904	0.465000	0.22004	1.315000	0.45114	0.591000	0.81541	GAA	STAT2	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil		0.537	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	C	NM_005419		56748582	-1	no_errors	ENST00000314128	ensembl	human	known	70_37	missense	SNP	1.000	G
TAAR5	9038	genome.wustl.edu	37	6	132910798	132910798	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr6:132910798C>T	ENST00000258034.2	-	1	79	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	10					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGGTGCTCTTCAGCACCTTGG	0.493																																																	0													69.0	66.0	67.0					6																	132910798		2203	4300	6503	SO:0001583	missense	9038			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.28G>A	6.37:g.132910798C>T	ENSP00000258034:p.Glu10Lys		D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt	p.E10K	ENST00000258034.2	37	c.28	CCDS5156.1	6	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998138	0.54147	.	.	ENSG00000135569	ENST00000258034	T	0.70516	-0.49	4.94	4.94	0.65067	.	0.748852	0.11886	N	0.520007	T	0.46502	0.1396	L	0.38175	1.15	0.09310	N	1	B	0.30021	0.265	B	0.24541	0.054	T	0.35919	-0.9769	10	0.22706	T	0.39	0.5102	18.3057	0.90180	0.0:1.0:0.0:0.0	.	10	O14804	TAAR5_HUMAN	K	10	ENSP00000258034:E10K	ENSP00000258034:E10K	E	-	1	0	TAAR5	132952491	0.000000	0.05858	0.042000	0.18584	0.027000	0.11550	0.318000	0.19504	2.724000	0.93272	0.514000	0.50259	GAA	TAAR5	-	NULL		0.493	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR5	HGNC	protein_coding	OTTHUMT00000042257.1	C	NM_003967		132910798	-1	no_errors	ENST00000258034	ensembl	human	known	70_37	missense	SNP	0.065	T
TAB3	257397	genome.wustl.edu	37	X	30877610	30877610	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:30877610C>T	ENST00000378933.1	-	2	273	c.96G>A	c.(94-96)atG>atA	p.M32I	TAB3_ENST00000378932.2_Missense_Mutation_p.M32I|TAB3_ENST00000378930.3_Missense_Mutation_p.M32I|TAB3_ENST00000288422.2_Missense_Mutation_p.M32I	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	32	CUE. {ECO:0000255|PROSITE- ProRule:PRU00468}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TTACCTGTAACATGCACTGAG	0.438																																					Pancreas(164;1598 1985 29022 43301 49529)												0													94.0	72.0	80.0					X																	30877610		2202	4300	6502	SO:0001583	missense	257397			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.96G>A	X.37:g.30877610C>T	ENSP00000368215:p.Met32Ile		A6NDD9|Q6VQR0	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.M32I	ENST00000378933.1	37	c.96	CCDS14226.1	X	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960137	0.53400	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.63	5.23	5.23	0.72850	Ubiquitin system component Cue (3);	0.092391	0.85682	D	0.000000	T	0.64450	0.2599	N	0.25647	0.755	0.48632	D	0.999684	P;P	0.38978	0.6;0.652	B;B	0.40940	0.233;0.344	T	0.69401	-0.5155	10	0.66056	D	0.02	0.2813	17.9491	0.89047	0.0:1.0:0.0:0.0	.	32;32	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	I	32	ENSP00000368215:M32I;ENSP00000368212:M32I;ENSP00000288422:M32I;ENSP00000368214:M32I	ENSP00000288422:M32I	M	-	3	0	TAB3	30787531	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.864000	0.69575	2.172000	0.68678	0.415000	0.27848	ATG	TAB3	-	pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE		0.438	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB3	HGNC	protein_coding	OTTHUMT00000056173.1	C	NM_152787		30877610	-1	no_errors	ENST00000288422	ensembl	human	known	70_37	missense	SNP	1.000	T
TAS2R1	50834	genome.wustl.edu	37	5	9629467	9629467	+	Silent	SNP	C	C	T	rs140696180	byFrequency	TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr5:9629467C>T	ENST00000382492.2	-	1	996	c.678G>A	c.(676-678)gcG>gcA	p.A226A	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	226					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TAGACAGCAACGCGCTGATGG	0.498																																																	0								C		0,4406		0,0,2203	67.0	75.0	72.0		678	-11.1	0.0	5	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TAS2R1	NM_019599.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		226/300	9629467	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	50834			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.678G>A	5.37:g.9629467C>T			Q646G8	Silent	SNP	pfam_TAS2_rcpt	p.A226	ENST00000382492.2	37	c.678	CCDS3876.1	5																																																																																			TAS2R1	-	pfam_TAS2_rcpt		0.498	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R1	HGNC	protein_coding	OTTHUMT00000206988.2	C			9629467	-1	no_errors	ENST00000382492	ensembl	human	known	70_37	silent	SNP	0.000	T
TFDP3	51270	genome.wustl.edu	37	X	132351492	132351492	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:132351492C>T	ENST00000310125.4	-	1	884	c.796G>A	c.(796-798)Gtc>Atc	p.V266I		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	266	DCB2. {ECO:0000250}.|Involved in negatively regulating E2F activity.				cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CAGTTGATGACGGTCTTCTTG	0.502																																																	0													133.0	134.0	133.0					X																	132351492		2199	4300	6499	SO:0001583	missense	51270			AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.796G>A	X.37:g.132351492C>T	ENSP00000385461:p.Val266Ile		Q6DK49|Q9NZ54	Missense_Mutation	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr	p.V266I	ENST00000310125.4	37	c.796	CCDS14636.2	X	.	.	.	.	.	.	.	.	.	.	c	10.32	1.316881	0.23908	.	.	ENSG00000183434	ENST00000310125	T	0.26223	1.75	0.208	0.208	0.15221	Transcription factor DP, C-terminal (1);	.	.	.	.	T	0.17662	0.0424	L	0.45137	1.4	0.51482	D	0.999928	B	0.27997	0.197	B	0.20577	0.03	T	0.06661	-1.0814	9	0.52906	T	0.07	.	6.1509	0.20310	0.0:0.9996:0.0:4.0E-4	.	266	Q5H9I0	TFDP3_HUMAN	I	266	ENSP00000385461:V266I	ENSP00000385461:V266I	V	-	1	0	TFDP3	132179158	0.995000	0.38212	0.007000	0.13788	0.007000	0.05969	3.364000	0.52328	0.268000	0.21939	0.271000	0.19318	GTC	TFDP3	-	pfam_Transc_factor_DP_C,pirsf_Transcription_factor_DP_subgr		0.502	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFDP3	HGNC	protein_coding	OTTHUMT00000058337.1	C	NM_016521		132351492	-1	no_errors	ENST00000310125	ensembl	human	known	70_37	missense	SNP	1.000	T
TIAM1	7074	genome.wustl.edu	37	21	32537340	32537340	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr21:32537340G>A	ENST00000286827.3	-	17	3401	c.2930C>T	c.(2929-2931)gCt>gTt	p.A977V	TIAM1_ENST00000541036.1_Missense_Mutation_p.A917V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	977					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTCCTCTGGAGCGGTCTCAGC	0.502																																																	0													80.0	76.0	77.0					21																	32537340		2203	4300	6503	SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2930C>T	21.37:g.32537340G>A	ENSP00000286827:p.Ala977Val		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.A977V	ENST00000286827.3	37	c.2930	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	G	8.520	0.868425	0.17250	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.40476	1.03;1.05	4.65	3.77	0.43336	.	0.473779	0.22050	N	0.065336	T	0.31136	0.0787	L	0.40543	1.245	0.09310	N	0.999995	B;B;B	0.17038	0.001;0.001;0.02	B;B;B	0.14578	0.003;0.001;0.011	T	0.16247	-1.0409	10	0.16896	T	0.51	.	10.8046	0.46509	0.0885:0.0:0.9115:0.0	.	917;917;977	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	V	977;818;917	ENSP00000286827:A977V;ENSP00000441570:A917V	ENSP00000286827:A977V	A	-	2	0	TIAM1	31459211	0.633000	0.27181	0.027000	0.17364	0.492000	0.33523	3.807000	0.55591	1.178000	0.42870	0.655000	0.94253	GCT	TIAM1	-	NULL		0.502	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	G	NM_003253		32537340	-1	no_errors	ENST00000286827	ensembl	human	known	70_37	missense	SNP	0.064	A
TPR	7175	genome.wustl.edu	37	1	186342529	186342529	+	Missense_Mutation	SNP	C	C	T	rs545486315		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:186342529C>T	ENST00000367478.4	-	2	514	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	TPR_ENST00000474852.1_5'UTR|C1orf27_ENST00000367470.3_5'Flank|C1orf27_ENST00000419367.3_5'Flank|C1orf27_ENST00000287859.6_5'Flank	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	73	Necessary for interaction with HSF1.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTGACACTCTCGGGTTTCATT	0.373			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0													97.0	91.0	93.0					1																	186342529		1822	4082	5904	SO:0001583	missense	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.218G>A	1.37:g.186342529C>T	ENSP00000356448:p.Arg73Gln		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.R73Q	ENST00000367478.4	37	c.218	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.730697	0.30684	.	.	ENSG00000047410	ENST00000367478;ENST00000367472;ENST00000451586	T	0.19806	2.12	5.34	4.43	0.53597	.	0.217773	0.40728	N	0.001021	T	0.09730	0.0239	N	0.08118	0	0.30963	N	0.723465	B;B	0.16396	0.017;0.003	B;B	0.08055	0.003;0.001	T	0.07501	-1.0769	10	0.35671	T	0.21	.	6.7091	0.23266	0.0:0.6951:0.0:0.3049	.	73;73	Q15624;P12270	.;TPR_HUMAN	Q	73;149;149	ENSP00000356448:R73Q	ENSP00000356442:R149Q	R	-	2	0	TPR	184609152	0.996000	0.38824	0.954000	0.39281	0.712000	0.41017	2.878000	0.48515	1.239000	0.43787	0.555000	0.69702	CGA	TPR	-	NULL		0.373	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	C	NM_003292		186342529	-1	no_errors	ENST00000367478	ensembl	human	known	70_37	missense	SNP	0.994	T
TRA2B	6434	genome.wustl.edu	37	3	185643310	185643310	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:185643310C>T	ENST00000453386.2	-	3	550	c.275G>A	c.(274-276)aGa>aAa	p.R92K	TRA2B_ENST00000471134.1_5'Flank|TRA2B_ENST00000382191.4_5'UTR	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	92	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GCTGTGCCGTCTACGATAATC	0.512																																																	0													126.0	111.0	116.0					3																	185643310		2203	4300	6503	SO:0001583	missense	6434			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.275G>A	3.37:g.185643310C>T	ENSP00000416959:p.Arg92Lys		B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R92K	ENST00000453386.2	37	c.275	CCDS33905.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.076769	0.94000	.	.	ENSG00000136527	ENST00000453386	T	0.23950	1.88	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	M	0.75777	2.31	0.80722	D	1	P;P	0.38711	0.643;0.643	P;P	0.54210	0.745;0.745	T	0.18524	-1.0334	10	0.41790	T	0.15	-6.7128	19.6509	0.95805	0.0:1.0:0.0:0.0	.	92;92	B2RDQ3;P62995	.;TRA2B_HUMAN	K	92	ENSP00000416959:R92K	ENSP00000416959:R92K	R	-	2	0	TRA2B	187126004	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.792000	0.85828	2.941000	0.99782	0.655000	0.94253	AGA	TRA2B	-	NULL		0.512	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2B	HGNC	protein_coding	OTTHUMT00000344984.1	C	NM_004593		185643310	-1	no_errors	ENST00000453386	ensembl	human	known	70_37	missense	SNP	1.000	T
TRMT2A	27037	genome.wustl.edu	37	22	20103702	20103702	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr22:20103702C>T	ENST00000252136.7	-	2	846	c.458G>A	c.(457-459)aGg>aAg	p.R153K	RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000492988.1_5'Flank|RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.R153K|RANBP1_ENST00000331821.3_5'Flank|TRMT2A_ENST00000439169.2_Missense_Mutation_p.R153K|TRMT2A_ENST00000403707.3_Missense_Mutation_p.R153K	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	153	Poly-Arg.				RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						TCGCCTCCTCCTGGCCATGGG	0.657																																																	0													55.0	53.0	54.0					22																	20103702		2202	4300	6502	SO:0001583	missense	27037			BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.458G>A	22.37:g.20103702C>T	ENSP00000252136:p.Arg153Lys		D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom	p.R153K	ENST00000252136.7	37	c.458	CCDS13774.1	22	.	.	.	.	.	.	.	.	.	.	C	9.614	1.132098	0.21041	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.34	-1.23	0.09465	Nucleotide-binding, alpha-beta plait (1);	0.326257	0.34879	N	0.003615	T	0.11965	0.0291	N	0.03238	-0.38	0.80722	D	1	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.0	T	0.41251	-0.9519	10	0.02654	T	1	-21.1929	11.0282	0.47757	0.0:0.3162:0.0:0.6838	.	153;153;153	B4E213;F2Z2W7;Q8IZ69	.;.;TRM2A_HUMAN	K	153	ENSP00000252136:R153K;ENSP00000385807:R153K;ENSP00000384968:R153K;ENSP00000395738:R153K	ENSP00000252136:R153K	R	-	2	0	TRMT2A	18483702	0.994000	0.37717	0.929000	0.37066	0.914000	0.54420	0.330000	0.19715	-0.226000	0.09899	-0.339000	0.08088	AGG	TRMT2A	-	NULL		0.657	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT2A	HGNC	protein_coding	OTTHUMT00000318168.3	C	NM_022727		20103702	-1	no_errors	ENST00000252136	ensembl	human	known	70_37	missense	SNP	0.978	T
TSC2	7249	genome.wustl.edu	37	16	2131603	2131603	+	Silent	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr16:2131603C>T	ENST00000219476.3	+	31	4248	c.3618C>T	c.(3616-3618)acC>acT	p.T1206T	TSC2_ENST00000439673.2_Silent_p.T1126T|TSC2_ENST00000568454.1_Silent_p.T1173T|TSC2_ENST00000401874.2_Silent_p.T1162T|TSC2_ENST00000353929.4_Silent_p.T1163T|TSC2_ENST00000382538.6_Silent_p.T1114T|TSC2_ENST00000350773.4_Silent_p.T1206T	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1206					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGGGAACACCAGCTGGCTGA	0.647			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													79.0	68.0	72.0					16																	2131603		2198	4294	6492	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3618C>T	16.37:g.2131603C>T			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.T1206	ENST00000219476.3	37	c.3618	CCDS10458.1	16																																																																																			TSC2	-	NULL		0.647	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	C	NM_000548		2131603	+1	no_errors	ENST00000219476	ensembl	human	known	70_37	silent	SNP	0.989	T
TTN	7273	genome.wustl.edu	37	2	179486033	179486033	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr2:179486033C>T	ENST00000591111.1	-	196	40713	c.40489G>A	c.(40489-40491)Gaa>Aaa	p.E13497K	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6265K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12570K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E6073K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E6198K|TTN_ENST00000589042.1_Missense_Mutation_p.E15138K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13497	Ig-like 91.				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)			CAGACAAATTCAGCCTTTTCT	0.368																																																	0													108.0	94.0	99.0					2																	179486033		1826	4074	5900	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.40489G>A	2.37:g.179486033C>T	ENSP00000465570:p.Glu13497Lys		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	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E12570K	ENST00000591111.1	37	c.37708		2	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784311	0.49997	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	6.17	6.17	0.99709	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	0.47619	0.1455	L	0.43554	1.36	0.45354	D	0.998347	P;P;P;P	0.45176	0.852;0.852;0.852;0.852	P;P;P;P	0.45712	0.491;0.491;0.491;0.491	T	0.42344	-0.9457	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	6073;6198;6265;13497	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	12570;6073;6265;6198;6073	ENSP00000343764:E12570K;ENSP00000434586:E6073K;ENSP00000340554:E6265K;ENSP00000352154:E6198K	ENSP00000340554:E6265K	E	-	1	0	TTN	179194278	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.755000	0.62198	2.941000	0.99782	0.655000	0.94253	GAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.368	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179486033	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTYH1	57348	genome.wustl.edu	37	19	54930395	54930395	+	Frame_Shift_Del	DEL	C	C	-	rs572583583	byFrequency	TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr19:54930395delC	ENST00000376530.3	+	2	323	c.220delC	c.(220-222)cccfs	p.P75fs	TTYH1_ENST00000301194.4_Frame_Shift_Del_p.P75fs|TTYH1_ENST00000376531.3_Frame_Shift_Del_p.P75fs|TTYH1_ENST00000391739.3_Frame_Shift_Del_p.P124fs	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	75					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CTGCTGCCGGCCCCCCGAGCC	0.692																																																	0													35.0	40.0	38.0					19																	54930395		2203	4298	6501	SO:0001589	frameshift_variant	57348			AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.220delC	19.37:g.54930395delC	ENSP00000365713:p.Pro75fs		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Frame_Shift_Del	DEL	pfam_Tweety	p.E76fs	ENST00000376530.3	37	c.220	CCDS12893.1	19																																																																																			TTYH1	-	pfam_Tweety		0.692	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TTYH1	HGNC	protein_coding	OTTHUMT00000140498.1	C			54930395	+1	no_errors	ENST00000376531	ensembl	human	known	70_37	frame_shift_del	DEL	0.793	-
TTYH1	57348	genome.wustl.edu	37	19	54930396	54930396	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr19:54930396C>A	ENST00000376530.3	+	2	324	c.221C>A	c.(220-222)cCc>cAc	p.P74H	TTYH1_ENST00000301194.4_Missense_Mutation_p.P74H|TTYH1_ENST00000376531.3_Missense_Mutation_p.P74H|TTYH1_ENST00000391739.3_Missense_Mutation_p.P123H	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	74					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TGCTGCCGGCCCCCCGAGCCC	0.697																																																	0													34.0	39.0	38.0					19																	54930396		2203	4298	6501	SO:0001583	missense	57348			AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.221C>A	19.37:g.54930396C>A	ENSP00000365713:p.Pro74His		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	pfam_Tweety	p.P74H	ENST00000376530.3	37	c.221	CCDS12893.1	19	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036095	0.54896	.	.	ENSG00000167614	ENST00000444661;ENST00000423529;ENST00000301194;ENST00000376530;ENST00000445095;ENST00000391739;ENST00000376531	T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79	3.51	2.45	0.29901	.	0.192261	0.29369	N	0.012354	T	0.19287	0.0463	L	0.36672	1.1	0.27362	N	0.955922	D;P;P;P	0.71674	0.998;0.676;0.883;0.915	D;P;P;P	0.68192	0.956;0.506;0.506;0.714	T	0.01666	-1.1300	10	0.59425	D	0.04	-16.3909	10.0698	0.42325	0.2027:0.7973:0.0:0.0	.	123;74;74;74	B7Z1H9;Q9H313-2;Q9H313-3;Q9H313	.;.;.;TTYH1_HUMAN	H	46;70;74;74;123;123;74	ENSP00000391282:P70H;ENSP00000301194:P74H;ENSP00000365713:P74H;ENSP00000393592:P123H;ENSP00000375619:P123H;ENSP00000365714:P74H	ENSP00000301194:P74H	P	+	2	0	TTYH1	59622208	0.075000	0.21258	0.977000	0.42913	0.838000	0.47535	0.501000	0.22578	0.814000	0.34374	0.561000	0.74099	CCC	TTYH1	-	pfam_Tweety		0.697	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TTYH1	HGNC	protein_coding	OTTHUMT00000140498.1	C			54930396	+1	no_errors	ENST00000376531	ensembl	human	known	70_37	missense	SNP	0.808	A
UGGT1	56886	genome.wustl.edu	37	2	128903520	128903520	+	Silent	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr2:128903520C>T	ENST00000259253.6	+	18	2042	c.1995C>T	c.(1993-1995)ttC>ttT	p.F665F	UGGT1_ENST00000375990.3_Silent_p.F641F	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	665					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCACCACCTTCTTCCAAAGAG	0.423																																																	0													102.0	96.0	98.0					2																	128903520		2203	4300	6503	SO:0001819	synonymous_variant	56886			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1995C>T	2.37:g.128903520C>T			Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	pfam_UDP-g_GGtrans	p.F665	ENST00000259253.6	37	c.1995	CCDS2154.1	2																																																																																			UGGT1	-	NULL		0.423	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	C	NM_020120		128903520	+1	no_errors	ENST00000259253	ensembl	human	known	70_37	silent	SNP	0.997	T
UNC13D	201294	genome.wustl.edu	37	17	73831078	73831078	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:73831078G>A	ENST00000207549.4	-	21	2294	c.1915C>T	c.(1915-1917)Cag>Tag	p.Q639*	UNC13D_ENST00000412096.2_Nonsense_Mutation_p.Q639*	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	639	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGCTGATCTGGGCAAAGCAG	0.587									Familial Hemophagocytic Lymphohistiocytosis																																								0													84.0	79.0	81.0					17																	73831078		2203	4300	6503	SO:0001587	stop_gained	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1915C>T	17.37:g.73831078G>A	ENSP00000207549:p.Gln639*		B4DWG9|Q9H7K5	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.Q639*	ENST00000207549.4	37	c.1915	CCDS11730.1	17	.	.	.	.	.	.	.	.	.	.	G	42	9.331381	0.99138	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	.	.	.	4.43	3.44	0.39384	.	0.180238	0.39475	N	0.001342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-5.4331	13.6927	0.62556	0.0:0.0:0.8443:0.1557	.	.	.	.	X	639	.	ENSP00000207549:Q639X	Q	-	1	0	UNC13D	71342673	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	8.621000	0.90949	1.042000	0.40150	0.563000	0.77884	CAG	UNC13D	-	NULL		0.587	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	HGNC	protein_coding	OTTHUMT00000448847.2	G	XM_113950		73831078	-1	no_errors	ENST00000412096	ensembl	human	known	70_37	nonsense	SNP	1.000	A
VEPH1	79674	genome.wustl.edu	37	3	157213060	157213060	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:157213060C>T	ENST00000362010.2	-	2	386	c.79G>A	c.(79-81)Gag>Aag	p.E27K	VEPH1_ENST00000494677.1_Missense_Mutation_p.E27K|VEPH1_ENST00000392832.2_Missense_Mutation_p.E27K|VEPH1_ENST00000468233.1_Missense_Mutation_p.E27K|VEPH1_ENST00000392833.2_Missense_Mutation_p.E27K|VEPH1_ENST00000543418.1_Missense_Mutation_p.E27K|VEPH1_ENST00000537559.1_Missense_Mutation_p.E27K	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	27						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCTTCAATCTCAGAGTCATCT	0.408																																																	0													119.0	122.0	121.0					3																	157213060		2203	4300	6503	SO:0001583	missense	79674			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.79G>A	3.37:g.157213060C>T	ENSP00000354919:p.Glu27Lys		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E27K	ENST00000362010.2	37	c.79	CCDS3179.1	3	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614607	0.87359	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000494677;ENST00000537559;ENST00000468233;ENST00000487753;ENST00000461299;ENST00000489602	T;T;T;T;T;T;T;T	0.32023	2.93;2.96;2.93;2.96;1.47;1.47;1.47;1.47	5.47	5.47	0.80525	.	0.049997	0.85682	D	0.000000	T	0.52549	0.1741	L	0.54323	1.7	0.80722	D	1	D;D;D	0.69078	0.997;0.972;0.996	D;P;P	0.68353	0.957;0.737;0.907	T	0.51458	-0.8703	10	0.62326	D	0.03	-27.6366	19.3422	0.94347	0.0:1.0:0.0:0.0	.	27;27;27	Q14D04-2;Q14D04-3;Q14D04	.;.;MELT_HUMAN	K	27	ENSP00000376578:E27K;ENSP00000354919:E27K;ENSP00000446258:E27K;ENSP00000376577:E27K;ENSP00000419193:E27K;ENSP00000443868:E27K;ENSP00000417268:E27K;ENSP00000420097:E27K	ENSP00000354919:E27K	E	-	1	0	VEPH1	158695754	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.464000	0.80887	2.567000	0.86603	0.655000	0.94253	GAG	VEPH1	-	superfamily_ARM-type_fold		0.408	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	HGNC	protein_coding	OTTHUMT00000351845.3	C	NM_024621		157213060	-1	no_errors	ENST00000362010	ensembl	human	known	70_37	missense	SNP	1.000	T
VSIG1	340547	genome.wustl.edu	37	X	107315938	107315938	+	Missense_Mutation	SNP	A	A	C			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:107315938A>C	ENST00000217957.5	+	4	561	c.444A>C	c.(442-444)caA>caC	p.Q148H	VSIG1_ENST00000415430.3_Missense_Mutation_p.Q184H|VSIG1_ENST00000485533.1_3'UTR	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	148	Ig-like C2-type 2.					integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GTAGCGTTCAAGGAAGACCAG	0.438																																																	0													224.0	174.0	191.0					X																	107315938		2203	4300	6503	SO:0001583	missense	340547			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.444A>C	X.37:g.107315938A>C	ENSP00000217957:p.Gln148His		C9J4P2|Q6MZS4	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.Q184H	ENST00000217957.5	37	c.552	CCDS14535.1	X	.	.	.	.	.	.	.	.	.	.	A	16.23	3.064767	0.55432	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.15139	2.45;2.45	5.01	3.85	0.44370	Immunoglobulin-like (1);	0.164332	0.40469	N	0.001099	T	0.14485	0.0350	L	0.33093	0.98	0.32035	N	0.599019	P;P	0.45240	0.854;0.728	P;B	0.46144	0.505;0.28	T	0.14035	-1.0487	10	0.56958	D	0.05	.	3.7914	0.08722	0.7087:0.0:0.1014:0.1898	.	184;148	C9J4P2;Q86XK7	.;VSIG1_HUMAN	H	184;148	ENSP00000402219:Q184H;ENSP00000217957:Q148H	ENSP00000217957:Q148H	Q	+	3	2	VSIG1	107202594	0.997000	0.39634	1.000000	0.80357	0.940000	0.58332	0.360000	0.20250	0.825000	0.34637	0.486000	0.48141	CAA	VSIG1	-	smart_Ig_sub,pfscan_Ig-like		0.438	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VSIG1	HGNC	protein_coding	OTTHUMT00000057858.1	A	NM_182607		107315938	+1	no_errors	ENST00000415430	ensembl	human	known	70_37	missense	SNP	0.997	C
VGLL1	51442	genome.wustl.edu	37	X	135630903	135630903	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:135630903T>A	ENST00000370634.3	+	3	540	c.370T>A	c.(370-372)Tct>Act	p.S124T	MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					TAGGAGGGCCTCTGTTCGGCC	0.612																																																	0													220.0	174.0	190.0					X																	135630903		2203	4300	6503	SO:0001583	missense	51442			AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"""vestigial like 1 (Drosophila)"""			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.370T>A	X.37:g.135630903T>A	ENSP00000359668:p.Ser124Thr		Q5H915	Missense_Mutation	SNP	pfam_Vg_Tdu,smart_TDU_repeat	p.S124T	ENST00000370634.3	37	c.370	CCDS14658.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.141|6.141	0.394224|0.394224	0.11638|0.11638	.|.	.|.	ENSG00000102243|ENSG00000102243	ENST00000440515|ENST00000370634	.|T	.|0.44482	.|0.92	5.68|5.68	-1.1|-1.1	0.09872|0.09872	.|.	.|0.389481	.|0.30547	.|N	.|0.009387	T|T	0.21145|0.21145	0.0509|0.0509	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B	.|0.21905	.|0.062	.|B	.|0.19148	.|0.024	T|T	0.13442|0.13442	-1.0509|-1.0509	5|10	.|0.19147	.|T	.|0.46	-1.044|-1.044	4.83|4.83	0.13435|0.13435	0.1878:0.4943:0.0:0.3179|0.1878:0.4943:0.0:0.3179	.|.	.|124	.|Q99990	.|VGLL1_HUMAN	H|T	88|124	.|ENSP00000359668:S124T	.|ENSP00000359668:S124T	L|S	+|+	2|1	0|0	VGLL1|VGLL1	135458569|135458569	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.018000|0.018000	0.09664|0.09664	-0.156000|-0.156000	0.10100|0.10100	-0.267000|-0.267000	0.09325|0.09325	0.430000|0.430000	0.28490|0.28490	CTC|TCT	VGLL1	-	NULL		0.612	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VGLL1	HGNC	protein_coding	OTTHUMT00000058493.1	T	NM_016267		135630903	+1	no_errors	ENST00000370634	ensembl	human	known	70_37	missense	SNP	0.000	A
TSIX	9383	genome.wustl.edu	37	X	73042889	73042889	+	lincRNA	SNP	C	C	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:73042889C>G	ENST00000604411.1	+	0	30850				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GCAAAAGAATCTTTTTTTTAT	0.299																																																	0													71.0	76.0	75.0					X																	73042889		874	1990	2864			7503					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73042889C>G				RNA	SNP	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			XIST	-	-		0.299	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1	C	NR_003255		73042889	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.000	G
WASH6P	653440	genome.wustl.edu	37	X	155254003	155254003	+	RNA	SNP	T	T	G			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:155254003T>G	ENST00000461007.1	+	0	2919				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CCTCCAGCCCTGAGTCCACTG	0.667																																																	0																																												653440			AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155254003T>G			A6NGF1|Q8N305	RNA	SNP	-	NULL	ENST00000461007.1	37	NULL		X																																																																																			WASH6P	-	-		0.667	WASH6P-016	KNOWN	basic	processed_transcript	WASH6P	HGNC	pseudogene	OTTHUMT00000058840.1	T	NG_008380		155254003	+1	no_errors	ENST00000461007	ensembl	human	known	70_37	rna	SNP	0.003	G
ZNF37A	7587	genome.wustl.edu	37	10	38407509	38407509	+	Missense_Mutation	SNP	G	G	A	rs371302765		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr10:38407509G>A	ENST00000361085.5	+	7	1775	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	ZNF37A_ENST00000351773.3_Missense_Mutation_p.R477H	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AAAACCTTCCGTCAGAAGTCA	0.403																																																	0								G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	58.0	59.0	58.0		1430,1430,1430	0.4	1.0	10		58	0,8600		0,0,4300	no	missense,missense,missense	ZNF37A	NM_001007094.2,NM_001178101.1,NM_003421.2	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	477/562,477/562,477/562	38407509	1,13005	2203	4300	6503	SO:0001583	missense	7587			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1430G>A	10.37:g.38407509G>A	ENSP00000354377:p.Arg477His		B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R477H	ENST00000361085.5	37	c.1430	CCDS31183.1	10	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060115	0.36373	2.27E-4	0.0	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.18016	2.24;2.24	2.34	0.388	0.16264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08268	0.0206	N	0.20766	0.605	0.09310	N	1	B	0.19200	0.034	B	0.13407	0.009	T	0.38824	-0.9643	9	0.20519	T	0.43	.	2.6961	0.05135	0.3289:0.258:0.4131:0.0	.	477	P17032	ZN37A_HUMAN	H	477	ENSP00000329141:R477H;ENSP00000354377:R477H	ENSP00000329141:R477H	R	+	2	0	ZNF37A	38447515	0.000000	0.05858	0.982000	0.44146	0.859000	0.49053	-2.016000	0.01446	0.323000	0.23307	-0.218000	0.12543	CGT	ZNF37A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF37A	HGNC	protein_coding	OTTHUMT00000047624.2	G	NM_003421		38407509	+1	no_errors	ENST00000351773	ensembl	human	known	70_37	missense	SNP	0.027	A
ZNF730	100129543	genome.wustl.edu	37	19	23316967	23316967	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr19:23316967G>A	ENST00000597761.2	+	2	288	c.89G>A	c.(88-90)aGa>aAa	p.R30K	ZNF730_ENST00000593635.1_5'UTR	NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	30	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						AATTTATATAGAAATGTAATG	0.358																																																	0																																										SO:0001583	missense	100129543			AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850		"""Zinc fingers, C2H2-type"", ""-"""	32470	protein-coding gene	gene with protein product							Standard	NM_001277403		Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.89G>A	19.37:g.23316967G>A	ENSP00000472959:p.Arg30Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R30K	ENST00000597761.2	37	c.89	CCDS59371.1	19	.	.	.	.	.	.	.	.	.	.	G	9.138	1.013188	0.19277	.	.	ENSG00000183850	ENST00000327867	.	.	.	0.195	-0.39	0.12450	.	.	.	.	.	T	0.37999	0.1024	L	0.54965	1.715	0.09310	N	1	.	.	.	.	.	.	T	0.34700	-0.9818	5	0.48119	T	0.1	.	.	.	.	.	.	.	.	K	30	.	ENSP00000329365:R30K	R	+	2	0	ZNF730	23108807	0.445000	0.25657	0.029000	0.17559	0.029000	0.11900	0.366000	0.20365	-0.697000	0.05092	-0.683000	0.03753	AGA	ZNF730	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.358	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF730	HGNC	protein_coding	OTTHUMT00000465737.2	G	XM_001719792		23316967	+1	no_errors	ENST00000327867	ensembl	human	known	70_37	missense	SNP	0.040	A
ZNF813	126017	genome.wustl.edu	37	19	53993928	53993928	+	Silent	SNP	C	C	T			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr19:53993928C>T	ENST00000396403.4	+	4	570	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCATTCGCATCTGCCTGAACT	0.408																																																	0													158.0	162.0	161.0					19																	53993928		2203	4297	6500	SO:0001819	synonymous_variant	126017			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.442C>T	19.37:g.53993928C>T				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L148	ENST00000396403.4	37	c.442	CCDS46172.1	19																																																																																			ZNF813	-	NULL		0.408	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF813	HGNC	protein_coding	OTTHUMT00000350638.1	C	NM_001004301		53993928	+1	no_errors	ENST00000396403	ensembl	human	known	70_37	silent	SNP	0.327	T
ZNF787	126208	genome.wustl.edu	37	19	56599962	56599962	+	Silent	SNP	G	G	A			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr19:56599962G>A	ENST00000270459.3	-	3	697	c.579C>T	c.(577-579)ctC>ctT	p.L193L		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GGTGACGCGCGAGGCTCTTGG	0.746																																																	0													2.0	3.0	3.0					19																	56599962		1517	3334	4851	SO:0001819	synonymous_variant	126208			BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.579C>T	19.37:g.56599962G>A			O00455	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L193	ENST00000270459.3	37	c.579	CCDS42634.1	19																																																																																			ZNF787	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.746	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF787	HGNC	protein_coding	OTTHUMT00000457498.1	G	NM_001002836		56599962	-1	no_errors	ENST00000270459	ensembl	human	known	70_37	silent	SNP	0.996	A
