#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
ABHD2	11057	genome.wustl.edu	37	15	89731451	89731451	+	Silent	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr15:89731451G>A	ENST00000352732.5	+	8	1363	c.843G>A	c.(841-843)aaG>aaA	p.K281K	ABHD2_ENST00000565973.1_Silent_p.K281K|ABHD2_ENST00000355100.3_Silent_p.K281K	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	281					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					ACCATGTTAAGAAACCCCAGA	0.498																																					Colon(11;252 417 24570 33239 41878)												0													114.0	100.0	105.0					15																	89731451		2200	4299	6499	SO:0001819	synonymous_variant	11057			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.843G>A	15.37:g.89731451G>A			Q53G48|Q53GU0|Q5FVD9|Q8TC79	Silent	SNP	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.K281	ENST00000352732.5	37	c.843	CCDS10348.1	15																																																																																			ABHD2	-	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT		0.498	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD2	HGNC	protein_coding	OTTHUMT00000309074.2	G			89731451	+1	no_errors	ENST00000352732	ensembl	human	known	70_37	silent	SNP	1.000	A
AKR1C4	1109	genome.wustl.edu	37	10	5248280	5248280	+	Missense_Mutation	SNP	G	G	A	rs374502554		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr10:5248280G>A	ENST00000380448.1	+	7	743	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	AKR1C4_ENST00000263126.1_Missense_Mutation_p.G164R			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	164					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						CAAGTCCATCGGGGTGTCAAA	0.507																																																	0								G	ARG/GLY	0,4406		0,0,2203	168.0	146.0	154.0		490	3.2	1.0	10		154	3,8597	3.0+/-9.4	0,3,4297	no	missense	AKR1C4	NM_001818.3	125	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	164/324	5248280	3,13003	2203	4300	6503	SO:0001583	missense	1109			M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.490G>A	10.37:g.5248280G>A	ENSP00000369814:p.Gly164Arg		Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.G164R	ENST00000380448.1	37	c.490	CCDS7064.1	10	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756387	0.49362	0.0	3.49E-4	ENSG00000198610	ENST00000380448;ENST00000263126	D;D	0.90197	-2.63;-2.63	3.16	3.16	0.36331	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.000000	0.64402	D	0.000006	D	0.96479	0.8851	H	0.97758	4.07	0.53005	D	0.999964	D	0.67145	0.996	D	0.67382	0.951	D	0.96990	0.9721	10	0.72032	D	0.01	.	12.072	0.53622	0.0:0.0:1.0:0.0	.	164	P17516	AK1C4_HUMAN	R	164	ENSP00000369814:G164R;ENSP00000263126:G164R	ENSP00000263126:G164R	G	+	1	0	AKR1C4	5238280	1.000000	0.71417	0.978000	0.43139	0.140000	0.21249	7.958000	0.87877	1.459000	0.47892	0.313000	0.20887	GGG	AKR1C4	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr		0.507	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C4	HGNC	protein_coding	OTTHUMT00000046543.2	G	NM_001818		5248280	+1	no_errors	ENST00000263126	ensembl	human	known	70_37	missense	SNP	1.000	A
AFAP1L2	84632	genome.wustl.edu	37	10	116060344	116060344	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr10:116060344G>A	ENST00000304129.4	-	14	1677	c.1648C>T	c.(1648-1650)Ccc>Tcc	p.P550S	AFAP1L2_ENST00000369271.3_Missense_Mutation_p.P550S|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.P603S			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	550					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GCACTGCTGGGGCCATGCAGA	0.617																																																	0													103.0	94.0	97.0					10																	116060344		2203	4300	6503	SO:0001583	missense	84632			BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1648C>T	10.37:g.116060344G>A	ENSP00000303042:p.Pro550Ser		A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P603S	ENST00000304129.4	37	c.1807	CCDS31286.1	10	.	.	.	.	.	.	.	.	.	.	G	3.894	-0.023350	0.07634	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.13307	2.61;2.61;2.6	5.76	-10.1	0.00402	.	1.180970	0.05723	N	0.598107	T	0.02304	0.0071	N	0.01188	-0.97	0.09310	N	1	B;B;B;B;B;B;B	0.11235	0.004;0.002;0.002;0.003;0.0;0.001;0.0	B;B;B;B;B;B;B	0.12156	0.005;0.007;0.002;0.004;0.003;0.001;0.0	T	0.24870	-1.0148	10	0.05351	T	0.99	-0.408	1.1412	0.01766	0.3607:0.2905:0.1227:0.2261	.	603;116;604;72;578;550;550	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-3;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;.;AF1L2_HUMAN	S	550;550;577;603	ENSP00000358276:P550S;ENSP00000303042:P550S;ENSP00000444511:P603S	ENSP00000303042:P550S	P	-	1	0	AFAP1L2	116050334	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.547000	0.02186	-2.201000	0.00746	0.655000	0.94253	CCC	AFAP1L2	-	NULL		0.617	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFAP1L2	HGNC	protein_coding	OTTHUMT00000050462.1	G	NM_032550		116060344	-1	no_errors	ENST00000545353	ensembl	human	known	70_37	missense	SNP	0.000	A
AP3B1	8546	genome.wustl.edu	37	5	77471612	77471612	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr5:77471612delC	ENST00000255194.6	-	10	1266	c.1091delG	c.(1090-1092)agafs	p.R364fs	AP3B1_ENST00000519295.1_Frame_Shift_Del_p.R315fs	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	364					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ACATACCTTTCTTTGAATTGA	0.308									Hermansky-Pudlak syndrome																																								0													156.0	159.0	158.0					5																	77471612		2202	4297	6499	SO:0001589	frameshift_variant	8546	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1091delG	5.37:g.77471612delC	ENSP00000255194:p.Arg364fs		E5RJ68|O00580|Q7Z393|Q9HD66	Frame_Shift_Del	DEL	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	p.R364fs	ENST00000255194.6	37	c.1091	CCDS4041.1	5																																																																																			AP3B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta		0.308	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	C			77471612	-1	no_errors	ENST00000255194	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
ARHGAP35	2909	genome.wustl.edu	37	19	47423319	47423319	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr19:47423319G>T	ENST00000404338.3	+	1	1387	c.1387G>T	c.(1387-1389)Gat>Tat	p.D463Y		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	463	FF 3.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TATGAATGAGGATTTCTACCA	0.408																																																	0													30.0	30.0	30.0					19																	47423319		1824	4076	5900	SO:0001583	missense	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1387G>T	19.37:g.47423319G>T	ENSP00000385720:p.Asp463Tyr		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.D463Y	ENST00000404338.3	37	c.1387	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693202	0.68386	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.08807	3.05	5.95	5.95	0.96441	.	0.097634	0.64402	D	0.000001	T	0.19248	0.0462	L	0.36672	1.1	0.80722	D	1	D	0.57571	0.98	P	0.58721	0.844	T	0.00036	-1.2255	10	0.87932	D	0	-35.2622	19.1646	0.93551	0.0:0.0:1.0:0.0	.	463	Q9NRY4-2	.	Y	463	ENSP00000385720:D463Y	ENSP00000324820:D463Y	D	+	1	0	ARHGAP35	52115159	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GAT	ARHGAP35	-	superfamily_FF_domain,smart_FF_domain		0.408	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	G	NM_004491		47423319	+1	no_errors	ENST00000404338	ensembl	human	known	70_37	missense	SNP	1.000	T
ATP6AP1L	92270	genome.wustl.edu	37	5	81613843	81613843	+	Silent	SNP	A	A	C			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr5:81613843A>C	ENST00000380167.4	+	10	1724	c.399A>C	c.(397-399)ggA>ggC	p.G133G	ATP6AP1L_ENST00000439350.1_Silent_p.G133G|ATP6AP1L_ENST00000508366.1_Intron			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	133					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TCAAGGGGGGACGATTTACCA	0.552																																																	0													84.0	76.0	79.0					5																	81613843		2203	4300	6503	SO:0001819	synonymous_variant	92270			AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.399A>C	5.37:g.81613843A>C				Silent	SNP	NULL	p.G133	ENST00000380167.4	37	c.399	CCDS34196.1	5																																																																																			ATP6AP1L	-	NULL		0.552	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6AP1L	HGNC	protein_coding	OTTHUMT00000369562.3	A	NM_001017971		81613843	+1	no_errors	ENST00000380167	ensembl	human	known	70_37	silent	SNP	0.000	C
BSN	8927	genome.wustl.edu	37	3	49698698	49698698	+	Silent	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr3:49698698C>T	ENST00000296452.4	+	6	9534	c.9420C>T	c.(9418-9420)gcC>gcT	p.A3140A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3140					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.A3140A(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ATAGCCGTGCCCCACTGCAGA	0.602																																																	1	Substitution - coding silent(1)	central_nervous_system(1)											68.0	53.0	58.0					3																	49698698		2203	4300	6503	SO:0001819	synonymous_variant	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.9420C>T	3.37:g.49698698C>T			O43161|Q7LGH3	Silent	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.A3140	ENST00000296452.4	37	c.9420	CCDS2800.1	3																																																																																			BSN	-	NULL		0.602	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	C	NM_003458		49698698	+1	no_errors	ENST00000296452	ensembl	human	known	70_37	silent	SNP	0.000	T
BBX	56987	genome.wustl.edu	37	3	107466855	107466855	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr3:107466855G>A	ENST00000325805.8	+	9	1081	c.794G>A	c.(793-795)tGt>tAt	p.C265Y	BBX_ENST00000415149.2_Missense_Mutation_p.C265Y|BBX_ENST00000416476.2_Missense_Mutation_p.C265Y|BBX_ENST00000402543.1_Missense_Mutation_p.C265Y|BBX_ENST00000406780.1_Missense_Mutation_p.C265Y			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	265					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			ACAAAGCAGTGTCAAACATCT	0.363																																																	0													119.0	113.0	115.0					3																	107466855		2203	4300	6503	SO:0001583	missense	56987			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.794G>A	3.37:g.107466855G>A	ENSP00000319974:p.Cys265Tyr		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.C265Y	ENST00000325805.8	37	c.794	CCDS46881.1	3	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502144	0.44455	.	.	ENSG00000114439	ENST00000415149;ENST00000325767;ENST00000402543;ENST00000325805;ENST00000416476;ENST00000402163;ENST00000406780	D;D;D;D;D;D	0.98747	-4.59;-4.59;-4.58;-5.11;-5.02;-4.59	5.79	5.79	0.91817	HMG box transcription factor BBX, domain of unknown function DUF2028 (1);	0.635928	0.17791	N	0.161891	D	0.98754	0.9581	L	0.54323	1.7	0.41788	D	0.989858	D;D;D;D	0.65815	0.991;0.991;0.974;0.995	P;P;P;D	0.79108	0.824;0.824;0.728;0.992	D	0.99655	1.0992	10	0.72032	D	0.01	-6.3789	15.5412	0.76048	0.0:0.0:1.0:0.0	.	265;265;265;265	C9JA69;Q8WY36;A2RRM7;Q8WY36-2	.;BBX_HUMAN;.;.	Y	265;116;265;265;265;265;265	ENSP00000408358:C265Y;ENSP00000385317:C265Y;ENSP00000319974:C265Y;ENSP00000403860:C265Y;ENSP00000385518:C265Y;ENSP00000385530:C265Y	ENSP00000319742:C116Y	C	+	2	0	BBX	108949545	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	3.186000	0.50942	2.739000	0.93911	0.655000	0.94253	TGT	BBX	-	pfam_TF_HMG_box_BBX_DUF2028		0.363	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBX	HGNC	protein_coding	OTTHUMT00000317820.1	G	NM_020235		107466855	+1	no_errors	ENST00000325805	ensembl	human	known	70_37	missense	SNP	1.000	A
C1orf94	84970	genome.wustl.edu	37	1	34663356	34663356	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:34663356C>A	ENST00000488417.1	+	2	971	c.851C>A	c.(850-852)aCa>aAa	p.T284K	C1orf94_ENST00000373374.3_Missense_Mutation_p.T94K	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	284										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AAGGAGCCCACAGGGCTGAGC	0.587																																																	0													73.0	66.0	68.0					1																	34663356		2203	4300	6503	SO:0001583	missense	84970			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.851C>A	1.37:g.34663356C>A	ENSP00000435634:p.Thr284Lys		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	NULL	p.T284K	ENST00000488417.1	37	c.851	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	C	3.207	-0.162440	0.06502	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.23552	1.9;1.9	4.78	-1.14	0.09741	.	1.553530	0.03626	N	0.237216	T	0.16557	0.0398	N	0.24115	0.695	0.09310	N	1	B	0.22146	0.065	B	0.22152	0.038	T	0.21075	-1.0256	10	0.33141	T	0.24	-13.7355	4.3519	0.11160	0.0:0.4039:0.1666:0.4295	.	284	Q6P1W5	CA094_HUMAN	K	94;284	ENSP00000362472:T94K;ENSP00000435634:T284K	ENSP00000362472:T94K	T	+	2	0	C1orf94	34435943	0.000000	0.05858	0.041000	0.18516	0.020000	0.10135	-0.008000	0.12788	-0.195000	0.10382	-0.252000	0.11476	ACA	C1orf94	-	NULL		0.587	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2	C	NM_032884		34663356	+1	no_errors	ENST00000488417	ensembl	human	known	70_37	missense	SNP	0.001	A
C1orf43	25912	genome.wustl.edu	37	1	154186400	154186400	+	Silent	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:154186400C>T	ENST00000368521.5	-	4	507	c.309G>A	c.(307-309)agG>agA	p.R103R	C1orf43_ENST00000368516.1_Silent_p.R69R|C1orf43_ENST00000350592.3_Silent_p.R69R|C1orf43_ENST00000368518.1_Silent_p.R103R|C1orf43_ENST00000368519.1_Intron|C1orf43_ENST00000362076.4_Intron	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	103						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GAGCTTTCATCCTATACAGAT	0.488																																																	0													150.0	142.0	145.0					1																	154186400		2203	4300	6503	SO:0001819	synonymous_variant	25912			AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.309G>A	1.37:g.154186400C>T			A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Silent	SNP	pfam_NICE-3_prd	p.R103	ENST00000368521.5	37	c.309	CCDS41404.1	1																																																																																			C1orf43	-	pfam_NICE-3_prd		0.488	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf43	HGNC	protein_coding	OTTHUMT00000087664.2	C	NM_015449		154186400	-1	no_errors	ENST00000368521	ensembl	human	known	70_37	silent	SNP	0.997	T
C1orf106	55765	genome.wustl.edu	37	1	200860773	200860773	+	Silent	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:200860773G>A	ENST00000367342.4	+	1	305	c.105G>A	c.(103-105)gcG>gcA	p.A35A		NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	35										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTGAAGCTGCGAGGCTGGAGT	0.652																																																	0													22.0	24.0	23.0					1																	200860773		2199	4300	6499	SO:0001819	synonymous_variant	55765			AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.105G>A	1.37:g.200860773G>A			B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	pfam_DUF3338	p.A35	ENST00000367342.4	37	c.105		1																																																																																			C1orf106	-	NULL		0.652	C1orf106-001	KNOWN	basic	protein_coding	C1orf106	HGNC	protein_coding	OTTHUMT00000087057.2	G	NM_018265		200860773	+1	no_errors	ENST00000367342	ensembl	human	known	70_37	silent	SNP	0.001	A
C3	718	genome.wustl.edu	37	19	6707526	6707526	+	Silent	SNP	G	G	A	rs373167228		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr19:6707526G>A	ENST00000245907.6	-	16	2090	c.1998C>T	c.(1996-1998)gcC>gcT	p.A666A		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	666					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GTCGGCGGGCGGCTGGCTGCG	0.647																																																	0								G		2,4404	4.2+/-10.8	0,2,2201	36.0	45.0	42.0		1998	-9.9	0.0	19		42	0,8598		0,0,4299	no	coding-synonymous	C3	NM_000064.2		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		666/1664	6707526	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1998C>T	19.37:g.6707526G>A			A7E236	Silent	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.A666	ENST00000245907.6	37	c.1998	CCDS32883.1	19																																																																																			C3	-	NULL		0.647	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	G	NM_000064		6707526	-1	no_errors	ENST00000245907	ensembl	human	known	70_37	silent	SNP	0.000	A
C3orf20	84077	genome.wustl.edu	37	3	14744739	14744739	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr3:14744739G>A	ENST00000253697.3	+	6	1300	c.848G>A	c.(847-849)cGg>cAg	p.R283Q	C3orf20_ENST00000435614.1_Missense_Mutation_p.R161Q|C3orf20_ENST00000412910.1_Missense_Mutation_p.R161Q	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	283						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CCTGAGGCCCGGGAGAAGCTG	0.612																																																	0													115.0	121.0	119.0					3																	14744739		2203	4300	6503	SO:0001583	missense	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.848G>A	3.37:g.14744739G>A	ENSP00000253697:p.Arg283Gln		Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	NULL	p.R283Q	ENST00000253697.3	37	c.848	CCDS33706.1	3	.	.	.	.	.	.	.	.	.	.	G	17.07	3.293988	0.60086	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.20881	2.34;2.04;2.04	5.61	4.75	0.60458	.	0.000000	0.44097	D	0.000500	T	0.12817	0.0311	N	0.24115	0.695	0.32039	N	0.598421	P	0.38020	0.615	B	0.30855	0.121	T	0.10847	-1.0612	10	0.54805	T	0.06	-27.0533	10.7088	0.45971	0.088:0.0:0.912:0.0	.	283	Q8ND61	CC020_HUMAN	Q	283;161;161	ENSP00000253697:R283Q;ENSP00000402933:R161Q;ENSP00000396081:R161Q	ENSP00000253697:R283Q	R	+	2	0	C3orf20	14719743	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.855000	0.48333	1.379000	0.46325	-0.224000	0.12420	CGG	C3orf20	-	NULL		0.612	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	G	NM_032137		14744739	+1	no_errors	ENST00000253697	ensembl	human	known	70_37	missense	SNP	1.000	A
CACNA1F	778	genome.wustl.edu	37	X	49066140	49066140	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chrX:49066140T>A	ENST00000376265.2	-	41	4864	c.4803A>T	c.(4801-4803)gaA>gaT	p.E1601D	CACNA1F_ENST00000323022.5_Missense_Mutation_p.E1590D|CACNA1F_ENST00000376251.1_Missense_Mutation_p.E1536D	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1601					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTAGCCCTTTTTCTTTCCTCC	0.587																																																	0													88.0	67.0	74.0					X																	49066140		2203	4300	6503	SO:0001583	missense	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.4803A>T	X.37:g.49066140T>A	ENSP00000365441:p.Glu1601Asp		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.E1601D	ENST00000376265.2	37	c.4803	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814587	0.70912	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265;ENST00000486943	T;T;T	0.67345	-0.26;-0.26;-0.26	5.19	1.02	0.19986	Voltage-dependent calcium channel, alpha-1 subunit, IQ domain (1);	0.052436	0.64402	D	0.000001	T	0.72220	0.3433	L	0.49126	1.545	0.45239	D	0.99824	D;D	0.76494	0.99;0.999	P;D	0.72338	0.819;0.977	T	0.69855	-0.5032	10	0.66056	D	0.02	.	8.3415	0.32247	0.0:0.3725:0.0:0.6275	.	1590;1601	F5CIQ9;O60840	.;CAC1F_HUMAN	D	1536;1590;1601;11	ENSP00000365427:E1536D;ENSP00000321618:E1590D;ENSP00000365441:E1601D	ENSP00000321618:E1590D	E	-	3	2	CACNA1F	48953084	0.997000	0.39634	0.982000	0.44146	0.539000	0.34962	0.664000	0.25068	0.179000	0.19938	0.486000	0.48141	GAA	CACNA1F	-	pfam_VDCC_a1su_IQ		0.587	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	T	NM_005183		49066140	-1	no_errors	ENST00000376265	ensembl	human	known	70_37	missense	SNP	1.000	A
CAGE1	285782	genome.wustl.edu	37	6	7373452	7373452	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr6:7373452G>A	ENST00000512086.1	-	5	1802	c.1600C>T	c.(1600-1602)Cag>Tag	p.Q534*	CAGE1_ENST00000338150.4_Nonsense_Mutation_p.Q534*|CAGE1_ENST00000379918.4_Nonsense_Mutation_p.Q534*|CAGE1_ENST00000296742.7_Nonsense_Mutation_p.Q398*|CAGE1_ENST00000502583.1_Nonsense_Mutation_p.Q534*|CAGE1_ENST00000509324.1_5'Flank			Q8TC20	CAGE1_HUMAN	cancer antigen 1	534										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					ATTTGCTGCTGAAGTTTTATA	0.333																																																	0													133.0	106.0	115.0					6																	7373452		1822	4074	5896	SO:0001587	stop_gained	285782			BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1600C>T	6.37:g.7373452G>A	ENSP00000427583:p.Gln534*		D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Nonsense_Mutation	SNP	NULL	p.Q534*	ENST00000512086.1	37	c.1600		6	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549308	0.65311	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	.	.	.	5.38	2.49	0.30216	.	0.353955	0.24396	N	0.038894	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-0.5883	8.7362	0.34530	0.0:0.3131:0.5249:0.162	.	.	.	.	X	534;534;534;398;534;534;534;546	.	ENSP00000296742:Q398X	Q	-	1	0	CAGE1	7318451	0.981000	0.34729	0.245000	0.24217	0.121000	0.20230	1.601000	0.36773	0.208000	0.20626	0.591000	0.81541	CAG	CAGE1	-	NULL		0.333	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	CAGE1	HGNC	protein_coding	OTTHUMT00000367136.1	G	NM_175745		7373452	-1	no_errors	ENST00000338150	ensembl	human	known	70_37	nonsense	SNP	0.788	A
CALCOCO1	57658	genome.wustl.edu	37	12	54115347	54115347	+	Missense_Mutation	SNP	C	C	T	rs371310406		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr12:54115347C>T	ENST00000550804.1	-	6	722	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	CALCOCO1_ENST00000430117.2_Missense_Mutation_p.R188Q|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.R221Q|CALCOCO1_ENST00000547885.1_5'Flank|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.R221Q			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	221					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TCCCTGTTGCCGGCTCAGGAT	0.542																																																	0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	363.0	330.0	341.0		563,662	2.7	1.0	12		341	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CALCOCO1	NM_001143682.1,NM_020898.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	188/607,221/692	54115347	1,13005	2203	4300	6503	SO:0001583	missense	57658			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.662G>A	12.37:g.54115347C>T	ENSP00000449960:p.Arg221Gln		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	pfam_CoCoA	p.R221Q	ENST00000550804.1	37	c.662	CCDS8864.1	12	.	.	.	.	.	.	.	.	.	.	C	10.93	1.488960	0.26686	0.0	1.16E-4	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000454332	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.0	2.68	0.31781	.	0.199026	0.25307	N	0.031620	T	0.55609	0.1931	N	0.03000	-0.44	0.24098	N	0.995887	B;B;B;B;B;B	0.13145	0.007;0.001;0.001;0.003;0.001;0.002	B;B;B;B;B;B	0.10450	0.001;0.004;0.001;0.005;0.005;0.001	T	0.39722	-0.9600	10	0.18276	T	0.48	-13.5085	3.2759	0.06898	0.1941:0.5416:0.0:0.2643	.	214;188;221;221;188;221	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2	.;.;.;.;.;CACO1_HUMAN	Q	188;221;159;221;221;214;98	ENSP00000397189:R188Q;ENSP00000262059:R221Q;ENSP00000447647:R221Q;ENSP00000449960:R221Q	ENSP00000262059:R221Q	R	-	2	0	CALCOCO1	52401614	0.008000	0.16893	0.998000	0.56505	0.994000	0.84299	-0.405000	0.07196	0.887000	0.36136	0.563000	0.77884	CGG	CALCOCO1	-	pfam_CoCoA		0.542	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CALCOCO1	HGNC	protein_coding	OTTHUMT00000407233.2	C	NM_020898		54115347	-1	no_errors	ENST00000550804	ensembl	human	known	70_37	missense	SNP	0.934	T
CAMSAP1	157922	genome.wustl.edu	37	9	138742205	138742205	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr9:138742205G>T	ENST00000389532.4	-	6	975	c.911C>A	c.(910-912)aCc>aAc	p.T304N	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.T315N|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.T26N	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	304	CH.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		ATCTTCCAAGGTGAGATAAAA	0.353																																																	0													75.0	83.0	80.0					9																	138742205		2203	4300	6503	SO:0001583	missense	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.911C>A	9.37:g.138742205G>T	ENSP00000374183:p.Thr304Asn		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.T315N	ENST00000389532.4	37	c.944	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	G	33	5.232968	0.95207	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	D;D;T	0.95412	-3.7;-3.7;2.33	5.57	5.57	0.84162	Calmodulin-regulated spectrin-associated protein, CH domain (1);Calponin homology domain (2);	0.143971	0.64402	D	0.000007	D	0.97281	0.9111	M	0.64404	1.975	0.80722	D	1	D;D	0.71674	0.998;0.976	D;P	0.70487	0.969;0.742	D	0.97561	1.0098	10	0.87932	D	0	-8.2914	19.9146	0.97053	0.0:0.0:1.0:0.0	.	304;315	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	N	304;26;315	ENSP00000374183:T304N;ENSP00000312463:T26N;ENSP00000386420:T315N	ENSP00000312463:T26N	T	-	2	0	CAMSAP1	137882026	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.164000	0.94755	2.775000	0.95449	0.655000	0.94253	ACC	CAMSAP1	-	pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain		0.353	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	G	XM_351857		138742205	-1	no_errors	ENST00000409386	ensembl	human	known	70_37	missense	SNP	1.000	T
CCNF	899	genome.wustl.edu	37	16	2499399	2499399	+	Silent	SNP	C	C	T	rs529445674		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr16:2499399C>T	ENST00000397066.4	+	12	1423	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	445					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CCAGCCTGTCCGCCTACGCCC	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14728	0.0		0.0	False		,,,				2504	0.0																0													36.0	36.0	36.0					16																	2499399		2198	4296	6494	SO:0001819	synonymous_variant	899			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1335C>T	16.37:g.2499399C>T			B2R8H3|Q96EG9	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like	p.S445	ENST00000397066.4	37	c.1335	CCDS10467.1	16																																																																																			CCNF	-	pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like		0.657	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	HGNC	protein_coding	OTTHUMT00000250801.1	C	NM_001761		2499399	+1	no_errors	ENST00000397066	ensembl	human	known	70_37	silent	SNP	0.000	T
CDHR1	92211	genome.wustl.edu	37	10	85974456	85974456	+	3'UTR	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr10:85974456C>T	ENST00000372117.3	+	0	2762				CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_3'UTR	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1						cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TCCCCTTCCTCTGCTCCTTAA	0.557											OREG0020334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001624	3_prime_UTR_variant	92211			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.*79C>T	10.37:g.85974456C>T		1240	Q69YZ8|Q8IXY5	RNA	SNP	-	NULL	ENST00000372117.3	37	NULL	CCDS7372.1	10																																																																																			CDHR1	-	-		0.557	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	HGNC	protein_coding	OTTHUMT00000049111.1	C	NM_033100		85974456	+1	no_errors	ENST00000459673	ensembl	human	known	70_37	rna	SNP	0.005	T
CENPV	201161	genome.wustl.edu	37	17	16246152	16246152	+	Silent	SNP	G	G	A	rs547635883		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr17:16246152G>A	ENST00000299736.4	-	5	860	c.798C>T	c.(796-798)atC>atT	p.I266I	PIGL_ENST00000581006.1_Intron|CENPV_ENST00000476243.1_Silent_p.I112I	NM_181716.2	NP_859067.2	Q7Z7K6	CENPV_HUMAN	centromere protein V	269					ameboidal cell migration (GO:0001667)|centromere complex assembly (GO:0034508)|mitotic nuclear division (GO:0007067)|pericentric heterochromatin assembly (GO:0031508)|positive regulation of cytokinesis (GO:0032467)|regulation of chromosome organization (GO:0033044)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	carbon-sulfur lyase activity (GO:0016846)			endometrium(1)|large_intestine(2)	3						ACATGTTCTTGATGGTCTTGT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		19882	0.0		0.0	False		,,,				2504	0.001																0													179.0	132.0	148.0					17																	16246152		2203	4300	6503	SO:0001819	synonymous_variant	201161			AF514992	CCDS32575.1	17p11.2	2013-11-05	2008-10-29	2008-10-29	ENSG00000166582	ENSG00000166582			29920	protein-coding gene	gene with protein product		608139	"""proline rich 6"""	PRR6		12196509, 18772885	Standard	NM_181716		Approved	p30, CENP-V	uc002gpw.3	Q7Z7K6	OTTHUMG00000059345	ENST00000299736.4:c.798C>T	17.37:g.16246152G>A			B2RPK2|Q3L8N5|Q8NFH6	Silent	SNP	pfam_GFA/CENP-V,superfamily_Mss4-like	p.I266	ENST00000299736.4	37	c.798	CCDS32575.1	17																																																																																			CENPV	-	NULL		0.552	CENPV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPV	HGNC	protein_coding	OTTHUMT00000131877.1	G	NM_181716		16246152	-1	no_errors	ENST00000299736	ensembl	human	known	70_37	silent	SNP	1.000	A
CDK12	51755	genome.wustl.edu	37	17	37667867	37667867	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr17:37667867G>A	ENST00000447079.4	+	8	2785	c.2752G>A	c.(2752-2754)Gat>Aat	p.D918N	CDK12_ENST00000430627.2_Missense_Mutation_p.D918N	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	918	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACCAGCCATAGATGTTTGGAG	0.388			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													116.0	110.0	112.0					17																	37667867		2203	4300	6503	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2752G>A	17.37:g.37667867G>A	ENSP00000398880:p.Asp918Asn		A7E2B2|B4DYX4|B9EIQ6|O94978	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.D918N	ENST00000447079.4	37	c.2752	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536459	0.85812	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.78246	-1.16;-1.16	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000162	D	0.92548	0.7633	H	0.96833	3.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.94797	0.7967	10	0.87932	D	0	-9.6532	19.1453	0.93463	0.0:0.0:1.0:0.0	.	917;918;918	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	N	918	ENSP00000407720:D918N;ENSP00000398880:D918N	ENSP00000407720:D918N	D	+	1	0	CDK12	34921393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.686000	0.98664	2.597000	0.87782	0.555000	0.69702	GAT	CDK12	-	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		0.388	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	G	NM_016507		37667867	+1	no_errors	ENST00000447079	ensembl	human	known	70_37	missense	SNP	1.000	A
CHAT	1103	genome.wustl.edu	37	10	50854596	50854596	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr10:50854596G>T	ENST00000337653.2	+	8	1310	c.1157G>T	c.(1156-1158)tGc>tTc	p.C386F	CHAT_ENST00000339797.1_Missense_Mutation_p.C268F|CHAT_ENST00000395559.2_Missense_Mutation_p.C268F|CHAT_ENST00000395562.2_Missense_Mutation_p.C304F|CHAT_ENST00000351556.3_Missense_Mutation_p.C268F|CHAT_ENST00000455728.2_Missense_Mutation_p.C268F	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	386					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CGCTGCATCTGCCTTGTATGC	0.647																																																	0													105.0	97.0	100.0					10																	50854596		2203	4300	6503	SO:0001583	missense	1103			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1157G>T	10.37:g.50854596G>T	ENSP00000337103:p.Cys386Phe		A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.C386F	ENST00000337653.2	37	c.1157	CCDS7232.1	10	.	.	.	.	.	.	.	.	.	.	G	8.410	0.843956	0.16963	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.66066	0.2752	N	0.01482	-0.84	0.80722	D	1	B;B	0.19200	0.016;0.034	B;B	0.27796	0.018;0.083	T	0.66276	-0.5964	10	0.02654	T	1	-21.9084	18.4964	0.90866	0.0:0.0:1.0:0.0	.	268;386	F8W8I2;P28329	.;CLAT_HUMAN	F	268;268;268;386;304;268	ENSP00000343486:C268F;ENSP00000345878:C268F;ENSP00000378926:C268F;ENSP00000337103:C386F;ENSP00000378929:C304F;ENSP00000390521:C268F	ENSP00000337103:C386F	C	+	2	0	CHAT	50524602	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.842000	0.86851	2.360000	0.80028	0.609000	0.83330	TGC	CHAT	-	pfam_Carn_acyl_trans		0.647	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1	G	NM_020549		50854596	+1	no_errors	ENST00000337653	ensembl	human	known	70_37	missense	SNP	1.000	T
CHST5	23563	genome.wustl.edu	37	16	75563856	75563856	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr16:75563856A>G	ENST00000336257.3	-	3	1821	c.427T>C	c.(427-429)Ttc>Ctc	p.F143L	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.F149L	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	143					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCCCAGTTGAAAAAGGCGGAC	0.607																																																	0													76.0	67.0	70.0					16																	75563856		2197	4298	6495	SO:0001583	missense	23563			AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.427T>C	16.37:g.75563856A>G	ENSP00000338783:p.Phe143Leu		B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.F149L	ENST00000336257.3	37	c.445	CCDS10919.1	16	.	.	.	.	.	.	.	.	.	.	A	15.86	2.957990	0.53400	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.97378	-4.34;-4.36	2.73	2.73	0.32206	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.98289	0.9433	M	0.89785	3.06	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.97927	1.0318	10	0.51188	T	0.08	.	9.8716	0.41177	1.0:0.0:0.0:0.0	.	149;143	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	L	143;149	ENSP00000338783:F143L;ENSP00000441220:F149L	ENSP00000338783:F143L	F	-	1	0	CHST5	74121357	1.000000	0.71417	0.995000	0.50966	0.076000	0.17211	8.461000	0.90372	1.240000	0.43803	0.260000	0.18958	TTC	CHST5	-	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase		0.607	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST5	HGNC	protein_coding	OTTHUMT00000269025.2	A	NM_012126		75563856	-1	no_errors	ENST00000541075	ensembl	human	known	70_37	missense	SNP	1.000	G
CIRBP	1153	genome.wustl.edu	37	19	1271030	1271030	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr19:1271030C>T	ENST00000588030.1	+	2	358	c.98C>T	c.(97-99)tCt>tTt	p.S33F	CIRBP_ENST00000588230.1_Missense_Mutation_p.S33F|CIRBP_ENST00000588090.1_Missense_Mutation_p.S33F|CIRBP_ENST00000589686.1_Missense_Mutation_p.S33F|CIRBP_ENST00000413636.2_Missense_Mutation_p.S33F|CIRBP_ENST00000444172.2_Silent_p.L16L|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000589660.1_Missense_Mutation_p.S33F|CIRBP_ENST00000585630.1_Missense_Mutation_p.S33F|CIRBP_ENST00000320936.5_Missense_Mutation_p.S33F|CIRBP_ENST00000591935.1_Missense_Mutation_p.S33F|CIRBP_ENST00000586773.1_Missense_Mutation_p.S33F|CIRBP_ENST00000586472.1_Missense_Mutation_p.S33F|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000589235.1_Missense_Mutation_p.S33F|CIRBP_ENST00000589710.1_Missense_Mutation_p.S33F|CIRBP_ENST00000587323.1_Missense_Mutation_p.S33F|CIRBP_ENST00000587896.1_Missense_Mutation_p.S33F			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	33	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACAGATCTCTGAAGGTGAG	0.587																																																	0													109.0	115.0	113.0					19																	1271030		2203	4300	6503	SO:0001583	missense	1153			D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"""RNA binding motif (RRM) containing"""	1982	protein-coding gene	gene with protein product	"""Cold-inducible RNA-binding protein"", ""glycine-rich RNA binding protein"""	602649	"""cold inducible RNA-binding protein"""			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.98C>T	19.37:g.1271030C>T	ENSP00000468788:p.Ser33Phe		B3KT17|B4E2X2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.S33F	ENST00000588030.1	37	c.98	CCDS12059.1	19	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195326	0.38806	.	.	ENSG00000099622	ENST00000320936;ENST00000413636	D;D	0.85702	-2.02;-2.02	4.14	3.1	0.35709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.423461	0.22313	U	0.061706	D	0.89033	0.6600	L	0.56199	1.76	0.80722	D	1	D;D;D	0.71674	0.995;0.997;0.998	D;D;D	0.75484	0.968;0.986;0.986	D	0.88227	0.2901	10	0.87932	D	0	-2.5029	10.3935	0.44188	0.0:0.902:0.0:0.098	.	33;33;33	B4E2X2;D6W5Y5;Q14011	.;.;CIRBP_HUMAN	F	33	ENSP00000322887:S33F;ENSP00000412831:S33F	ENSP00000322887:S33F	S	+	2	0	CIRBP	1222030	0.491000	0.26019	0.007000	0.13788	0.026000	0.11368	4.875000	0.63072	0.733000	0.32492	0.453000	0.30009	TCT	CIRBP	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom		0.587	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIRBP	HGNC	protein_coding	OTTHUMT00000449969.1	C	NM_001280		1271030	+1	no_errors	ENST00000585914	ensembl	human	known	70_37	missense	SNP	0.899	T
CLSTN1	22883	genome.wustl.edu	37	1	9796007	9796007	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:9796007C>G	ENST00000377298.4	-	12	2462	c.1670G>C	c.(1669-1671)tGt>tCt	p.C557S	CLSTN1_ENST00000377288.3_Missense_Mutation_p.C538S|CLSTN1_ENST00000477264.1_5'Flank|CLSTN1_ENST00000361311.4_Missense_Mutation_p.C547S	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	557					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GGTATACAGACAGTCGATCAC	0.582																																																	0													93.0	89.0	91.0					1																	9796007		2203	4300	6503	SO:0001583	missense	22883			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1670G>C	1.37:g.9796007C>G	ENSP00000366513:p.Cys557Ser		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.C557S	ENST00000377298.4	37	c.1670	CCDS30580.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.208427	0.95069	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.84948	2.725	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.81914	0.989;0.995;0.989	T	0.71119	-0.4685	10	0.87932	D	0	-16.9041	19.9983	0.97395	0.0:1.0:0.0:0.0	.	538;547;557	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	S	557;547;358;538;538	ENSP00000366513:C557S;ENSP00000354997:C547S;ENSP00000401934:C358S;ENSP00000366502:C538S	ENSP00000354997:C547S	C	-	2	0	CLSTN1	9718594	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.724000	0.93272	0.561000	0.74099	TGT	CLSTN1	-	superfamily_ConA-like_lec_gl_sf		0.582	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLSTN1	HGNC	protein_coding	OTTHUMT00000004239.1	C			9796007	-1	no_errors	ENST00000377298	ensembl	human	known	70_37	missense	SNP	1.000	G
COL11A1	1301	genome.wustl.edu	37	1	103474021	103474021	+	Nonsense_Mutation	SNP	G	G	A	rs377107722		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:103474021G>A	ENST00000370096.3	-	15	1993	c.1681C>T	c.(1681-1683)Cag>Tag	p.Q561*	COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q522*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q445*|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000358392.2_Nonsense_Mutation_p.Q573*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	561	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTTTTACCTGAGGACCTGGA	0.363																																																	0								G	stop/GLN,stop/GLN,stop/GLN,stop/GLN	0,4402		0,0,2201	42.0	50.0	47.0		1564,1681,1717,1333	5.6	1.0	1		47	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained	COL11A1	NM_001190709.1,NM_001854.3,NM_080629.2,NM_080630.3	,,,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,,,	522/1768,561/1807,573/1819,445/1691	103474021	1,13001	2201	4300	6501	SO:0001587	stop_gained	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.1681C>T	1.37:g.103474021G>A	ENSP00000359114:p.Gln561*		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_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.Q573*	ENST00000370096.3	37	c.1717	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.722809	0.98929	0.0	1.16E-4	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	.	.	.	5.58	5.58	0.84498	.	0.116455	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.5574	0.95357	0.0:0.0:1.0:0.0	.	.	.	.	X	561;573;522;445	.	ENSP00000302551:Q522X	Q	-	1	0	COL11A1	103246609	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.190000	0.94934	2.623000	0.88846	0.655000	0.94253	CAG	COL11A1	-	pfam_Collagen		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	G	NM_080630		103474021	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	nonsense	SNP	1.000	A
COL27A1	85301	genome.wustl.edu	37	9	117002739	117002739	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr9:117002739C>T	ENST00000356083.3	+	21	3198	c.2807C>T	c.(2806-2808)cCg>cTg	p.P936L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	936	Collagen-like 6.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CGAGGCCTGCCGGGACCCCGT	0.672																																																	0													74.0	84.0	81.0					9																	117002739		2203	4300	6503	SO:0001583	missense	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2807C>T	9.37:g.117002739C>T	ENSP00000348385:p.Pro936Leu		Q66K43|Q96JF7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P936L	ENST00000356083.3	37	c.2807	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870594	0.72065	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.96136	-3.92	5.91	5.91	0.95273	.	.	.	.	.	D	0.97698	0.9245	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97680	1.0172	9	0.54805	T	0.06	.	15.7986	0.78433	0.0:1.0:0.0:0.0	.	936	Q8IZC6	CORA1_HUMAN	L	936	ENSP00000348385:P936L	ENSP00000348385:P936L	P	+	2	0	COL27A1	116042560	0.993000	0.37304	0.994000	0.49952	0.995000	0.86356	3.357000	0.52277	2.793000	0.96121	0.655000	0.94253	CCG	COL27A1	-	pfam_Collagen		0.672	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	C	NM_032888		117002739	+1	no_errors	ENST00000356083	ensembl	human	known	70_37	missense	SNP	0.997	T
COL5A2	1290	genome.wustl.edu	37	2	189927592	189927592	+	Splice_Site	SNP	G	G	A	rs145404046		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr2:189927592G>A	ENST00000374866.3	-	29	2250	c.1976C>T	c.(1975-1977)cCg>cTg	p.P659L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	659					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATCACATACCGGCGGGCCCAC	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13588	0.0		0.0	False		,,,				2504	0.0																0								G	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	66.0	73.0	71.0		1976	4.7	1.0	2	dbSNP_134	71	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice	COL5A2	NM_000393.3	98	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	probably-damaging	659/1500	189927592	4,13002	2203	4300	6503	SO:0001630	splice_region_variant	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1977+1C>T	2.37:g.189927592G>A			P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P659L	ENST00000374866.3	37	c.1976	CCDS33350.1	2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	17.84	3.486971	0.63962	4.54E-4	2.33E-4	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.98684	-5.07	4.72	4.72	0.59763	.	0.144257	0.31784	N	0.007063	D	0.97583	0.9208	L	0.58925	1.835	0.58432	D	0.999995	B;D	0.59767	0.056;0.986	B;P	0.44394	0.007;0.448	D	0.97493	1.0055	9	.	.	.	.	18.0434	0.89325	0.0:0.0:1.0:0.0	.	299;659	Q5PR22;P05997	.;CO5A2_HUMAN	L	659;299	ENSP00000364000:P659L	.	P	-	2	0	COL5A2	189635837	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	7.685000	0.84117	2.339000	0.79563	0.467000	0.42956	CCG	COL5A2	-	pfam_Collagen		0.403	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	G	NM_000393	Missense_Mutation	189927592	-1	no_errors	ENST00000374866	ensembl	human	known	70_37	missense	SNP	1.000	A
COL5A2	1290	genome.wustl.edu	37	2	189927992	189927992	+	Missense_Mutation	SNP	G	G	A	rs145169816	byFrequency	TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr2:189927992G>A	ENST00000374866.3	-	27	2049	c.1775C>T	c.(1774-1776)gCg>gTg	p.A592V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	592					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTCCCCTGGCGCACCCTATAG	0.507																																																	0													48.0	54.0	52.0					2																	189927992		2203	4300	6503	SO:0001583	missense	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1775C>T	2.37:g.189927992G>A	ENSP00000364000:p.Ala592Val		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.A592V	ENST00000374866.3	37	c.1775	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911301	0.72983	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.94457	-3.43	4.82	4.82	0.62117	.	0.147776	0.31071	N	0.008302	D	0.94331	0.8178	L	0.31476	0.935	0.58432	D	0.999997	P;D	0.76494	0.905;0.999	B;D	0.63488	0.304;0.915	D	0.93493	0.6837	9	.	.	.	.	15.4437	0.75213	0.0:0.1388:0.8612:0.0	.	232;592	Q5PR22;P05997	.;CO5A2_HUMAN	V	592;232	ENSP00000364000:A592V	.	A	-	2	0	COL5A2	189636237	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	5.274000	0.65569	2.377000	0.81083	0.460000	0.39030	GCG	COL5A2	-	NULL		0.507	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	G	NM_000393		189927992	-1	no_errors	ENST00000374866	ensembl	human	known	70_37	missense	SNP	1.000	A
COLEC12	81035	genome.wustl.edu	37	18	346444	346444	+	Missense_Mutation	SNP	C	C	T	rs146515222	byFrequency	TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr18:346444C>T	ENST00000400256.3	-	5	1385	c.1178G>A	c.(1177-1179)cGt>cAt	p.R393H		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	393					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				AGAATCCAAACGGATGTTGGC	0.428																																																	0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	178.0	153.0	161.0		1178	5.8	1.0	18	dbSNP_134	161	2,8598	2.2+/-6.3	0,2,4298	no	missense	COLEC12	NM_130386.2	29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging	393/743	346444	3,13003	2203	4300	6503	SO:0001583	missense	81035			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1178G>A	18.37:g.346444C>T	ENSP00000383115:p.Arg393His		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.R393H	ENST00000400256.3	37	c.1178	CCDS32782.1	18	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609819	0.46527	2.27E-4	2.33E-4	ENSG00000158270	ENST00000400256	T	0.77877	-1.13	5.76	5.76	0.90799	.	0.094281	0.64402	D	0.000001	T	0.71316	0.3325	L	0.27053	0.805	0.52099	D	0.99994	P	0.50943	0.94	P	0.47162	0.54	T	0.72516	-0.4269	10	0.45353	T	0.12	-10.825	13.1959	0.59738	0.0:0.9273:0.0:0.0727	.	393	Q5KU26	COL12_HUMAN	H	393	ENSP00000383115:R393H	ENSP00000383115:R393H	R	-	2	0	COLEC12	336444	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.558000	0.53749	2.721000	0.93114	0.655000	0.94253	CGT	COLEC12	-	NULL		0.428	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1	C			346444	-1	no_errors	ENST00000400256	ensembl	human	known	70_37	missense	SNP	1.000	T
CORIN	10699	genome.wustl.edu	37	4	47644044	47644044	+	Silent	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr4:47644044G>A	ENST00000273857.4	-	16	2090	c.2091C>T	c.(2089-2091)aaC>aaT	p.N697N	CORIN_ENST00000502252.1_Silent_p.N630N|CORIN_ENST00000508498.1_Silent_p.N558N|CORIN_ENST00000505909.1_Silent_p.N660N	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	697	SRCR.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGGAAGAGGAGTTCACATTTA	0.453																																																	0													80.0	78.0	78.0					4																	47644044		2203	4300	6503	SO:0001819	synonymous_variant	10699			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2091C>T	4.37:g.47644044G>A			B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.N697	ENST00000273857.4	37	c.2091	CCDS3477.1	4																																																																																			CORIN	-	superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pirsf_Peptidase_S1A_corin		0.453	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	HGNC	protein_coding	OTTHUMT00000216906.2	G			47644044	-1	no_errors	ENST00000273857	ensembl	human	known	70_37	silent	SNP	0.999	A
DISP2	85455	genome.wustl.edu	37	15	40659419	40659419	+	Missense_Mutation	SNP	G	G	A	rs201542979		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr15:40659419G>A	ENST00000267889.3	+	8	1193	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	369					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCCCTGCTTCGGACCTGTGCC	0.642																																																	0													136.0	127.0	130.0					15																	40659419		2203	4300	6503	SO:0001583	missense	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1106G>A	15.37:g.40659419G>A	ENSP00000267889:p.Arg369Gln		Q6AHW3|Q9C0C1	Missense_Mutation	SNP	pfscan_SSD	p.R369Q	ENST00000267889.3	37	c.1106	CCDS10056.1	15	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059135	0.76074	.	.	ENSG00000140323	ENST00000267889	T	0.12465	2.68	5.1	5.1	0.69264	.	0.055576	0.64402	D	0.000001	T	0.32734	0.0839	L	0.48362	1.52	0.58432	D	0.999992	D	0.89917	1.0	D	0.76071	0.987	T	0.01249	-1.1406	10	0.56958	D	0.05	-25.6321	18.7051	0.91635	0.0:0.0:1.0:0.0	.	369	A7MBM2	DISP2_HUMAN	Q	369	ENSP00000267889:R369Q	ENSP00000267889:R369Q	R	+	2	0	DISP2	38446711	1.000000	0.71417	0.966000	0.40874	0.473000	0.32948	7.425000	0.80255	2.659000	0.90383	0.561000	0.74099	CGG	DISP2	-	NULL		0.642	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	HGNC	protein_coding	OTTHUMT00000252249.1	G	NM_033510		40659419	+1	no_errors	ENST00000267889	ensembl	human	known	70_37	missense	SNP	0.970	A
DMKN	93099	genome.wustl.edu	37	19	35991428	35991428	+	Intron	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr19:35991428G>A	ENST00000339686.3	-	12	1464				DMKN_ENST00000462126.1_Intron|DMKN_ENST00000467637.1_Intron|DMKN_ENST00000408915.2_Intron|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000414866.2_Intron|DMKN_ENST00000472252.2_Intron|DMKN_ENST00000443640.1_Intron|DMKN_ENST00000480502.1_Intron|DMKN_ENST00000492341.2_Intron|DMKN_ENST00000402589.2_Intron|DMKN_ENST00000436012.1_Intron|DMKN_ENST00000602781.1_Intron|DMKN_ENST00000429837.1_Intron	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGAGGACAGAGACTCACCTGA	0.582																																																	0													83.0	54.0	64.0					19																	35991428		2203	4300	6503	SO:0001627	intron_variant	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1287+6C>T	19.37:g.35991428G>A			A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	NULL	p.L128F	ENST00000339686.3	37	c.382	CCDS12463.1	19																																																																																			DMKN	-	NULL		0.582	DMKN-001	KNOWN	basic|CCDS	protein_coding	DMKN	HGNC	protein_coding	OTTHUMT00000109461.2	G	NM_033317		35991428	-1	no_errors	ENST00000482321	ensembl	human	novel	70_37	missense	SNP	0.023	A
DSCAML1	57453	genome.wustl.edu	37	11	117329618	117329618	+	Silent	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr11:117329618G>A	ENST00000321322.6	-	19	3601	c.3600C>T	c.(3598-3600)ggC>ggT	p.G1200G	DSCAML1_ENST00000527706.1_Silent_p.G930G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1140	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTGCATCTCGCCCCACTCTG	0.647																																																	0													94.0	87.0	90.0					11																	117329618		2201	4296	6497	SO:0001819	synonymous_variant	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3600C>T	11.37:g.117329618G>A			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G1200	ENST00000321322.6	37	c.3600	CCDS8384.1	11																																																																																			DSCAML1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.647	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	G	NM_020693		117329618	-1	no_errors	ENST00000321322	ensembl	human	known	70_37	silent	SNP	0.902	A
MT-ND2	4536	genome.wustl.edu	37	M	1479	1479	+	5'Flank	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chrM:1479C>T	ENST00000361453.3	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						CTGAAGCGCGTACACACCGCC	0.448																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.1479C>T	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			J01415.23	-	-		0.448	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000211459	Clone_based_ensembl_gene	protein_coding		C	YP_003024027		1479	+1	no_errors	ENST00000389680	ensembl	human	known	70_37	rna	SNP	NULL	T
SMPDL3B	27293	genome.wustl.edu	37	1	28285385	28285385	+	3'UTR	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:28285385C>T	ENST00000373894.3	+	0	1595				XKR8_ENST00000373884.5_5'Flank|SMPDL3B_ENST00000549094.1_3'UTR|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B						sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TAACGGGTAACGGGGGCAGCG	0.642																																																	0													7.0	7.0	7.0					1																	28285385		2179	4251	6430	SO:0001624	3_prime_UTR_variant	0			Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.*36C>T	1.37:g.28285385C>T			B7ZB35|Q5T0Z0|Q96CB7	RNA	SNP	-	NULL	ENST00000373894.3	37	NULL	CCDS30655.1	1																																																																																			RP11-460I13.2	-	-		0.642	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000227050	Clone_based_vega_gene	protein_coding	OTTHUMT00000011170.1	C	NM_014474		28285385	-1	no_errors	ENST00000448015	ensembl	human	known	70_37	rna	SNP	0.000	T
DLG5	9231	genome.wustl.edu	37	10	79551667	79551667	+	3'UTR	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr10:79551667G>A	ENST00000372391.2	-	0	6296				DLG5_ENST00000372388.2_3'UTR|RP13-39P12.3_ENST00000434097.2_RNA|DLG5_ENST00000459739.1_5'Flank|RP13-39P12.3_ENST00000601701.1_RNA	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)						apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGCCACCAAGGAGCAGGAGGT	0.557																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.*531C>T	10.37:g.79551667G>A			A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	RNA	SNP	-	NULL	ENST00000372391.2	37	NULL	CCDS7353.2	10																																																																																			RP13-39P12.3	-	-		0.557	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000228748	Clone_based_vega_gene	protein_coding	OTTHUMT00000048900.2	G			79551667	+1	no_errors	ENST00000434097	ensembl	human	known	70_37	rna	SNP	0.064	A
KRT8P47	644743	genome.wustl.edu	37	1	44569210	44569210	+	lincRNA	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:44569210G>A	ENST00000434244.1	+	0	1207																											TCTTCGTATGGATACTCCTGT	0.622																																																	0																																												0																															1.37:g.44569210G>A				RNA	SNP	-	NULL	ENST00000434244.1	37	NULL		1																																																																																			RP5-1198O20.4	-	-		0.622	RP5-1198O20.4-001	KNOWN	basic	lincRNA	ENSG00000230615	Clone_based_vega_gene	lincRNA	OTTHUMT00000022875.2	G			44569210	+1	no_errors	ENST00000434244	ensembl	human	known	70_37	rna	SNP	0.650	A
PTPN1	5770	genome.wustl.edu	37	20	49190965	49190965	+	Intron	SNP	C	C	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr20:49190965C>A	ENST00000371621.3	+	5	528				RP4-530I15.9_ENST00000431019.1_RNA|PTPN1_ENST00000541713.1_Intron	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1						actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	TTTGAGTTATCATGAAGCTTG	0.502																																																	0																																										SO:0001627	intron_variant	0				CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.355-89C>A	20.37:g.49190965C>A			Q5TGD8|Q9BQV9|Q9NQQ4	RNA	SNP	-	NULL	ENST00000371621.3	37	NULL	CCDS13430.1	20																																																																																			RP4-530I15.9	-	-		0.502	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000232043	Clone_based_vega_gene	protein_coding	OTTHUMT00000079694.2	C			49190965	-1	no_errors	ENST00000431019	ensembl	human	known	70_37	rna	SNP	0.001	A
IFT80	57560	genome.wustl.edu	37	3	159986236	159986236	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr3:159986236C>T	ENST00000326448.7	-	19	2620	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.E901K|IFT80_ENST00000496589.1_Missense_Mutation_p.E593K|IFT80_ENST00000483465.1_Missense_Mutation_p.E593K	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	730					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTATTAGTTTCCTGTTTACCA	0.308																																																	0													106.0	109.0	108.0					3																	159986236		2203	4300	6503	SO:0001583	missense	0			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.2188G>A	3.37:g.159986236C>T	ENSP00000312778:p.Glu730Lys		B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E901K	ENST00000326448.7	37	c.2701	CCDS3188.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.088581	0.94100	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	T;D;D	0.85339	-0.83;-1.97;-1.97	5.04	5.04	0.67666	.	0.000000	0.64402	U	0.000017	D	0.90909	0.7143	M	0.90483	3.12	0.80722	D	1	P	0.36144	0.539	B	0.44085	0.44	D	0.92528	0.6031	10	0.87932	D	0	.	17.9913	0.89170	0.0:1.0:0.0:0.0	.	730	Q9P2H3	IFT80_HUMAN	K	730;593;593	ENSP00000312778:E730K;ENSP00000418196:E593K;ENSP00000420646:E593K	ENSP00000312778:E730K	E	-	1	0	IFT80	161468930	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.114000	0.77103	2.318000	0.78349	0.557000	0.71058	GAA	TRIM59	-	NULL		0.308	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248710	Uniprot_genename	protein_coding	OTTHUMT00000352651.2	C	NM_020800		159986236	-1	no_errors	ENST00000483754	ensembl	human	known	70_37	missense	SNP	1.000	T
ENTHD2	146705	genome.wustl.edu	37	17	79205719	79205719	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr17:79205719G>A	ENST00000300714.3	-	8	686	c.629C>T	c.(628-630)tCg>tTg	p.S210L	ENTHD2_ENST00000374769.2_Missense_Mutation_p.S126L|AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	210	Ser-rich.					cytoplasmic vesicle (GO:0031410)											GCCCGAGTCCGAGACCCTGCT	0.662																																																	0													59.0	66.0	64.0					17																	79205719		2203	4300	6503	SO:0001583	missense	146705			AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.629C>T	17.37:g.79205719G>A	ENSP00000300714:p.Ser210Leu		Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS	p.S210L	ENST00000300714.3	37	c.629	CCDS11779.1	17	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015443	0.35511	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T;T	0.18810	2.19;2.19	5.09	4.12	0.48240	.	0.063430	0.64402	N	0.000004	T	0.16599	0.0399	L	0.46157	1.445	0.53005	D	0.999966	P;P	0.43024	0.505;0.798	B;B	0.30029	0.08;0.11	T	0.03576	-1.1023	10	0.59425	D	0.04	-11.1565	13.6638	0.62382	0.0751:0.0:0.9249:0.0	.	210;126	Q96N21;Q96N21-2	CQ056_HUMAN;.	L	210;126	ENSP00000300714:S210L;ENSP00000363901:S126L	ENSP00000300714:S210L	S	-	2	0	C17orf56	76820314	1.000000	0.71417	0.029000	0.17559	0.004000	0.04260	3.675000	0.54605	1.150000	0.42419	0.561000	0.74099	TCG	ENTHD2	-	NULL		0.662	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD2	HGNC	protein_coding	OTTHUMT00000439315.1	G	NM_144679		79205719	-1	no_errors	ENST00000300714	ensembl	human	known	70_37	missense	SNP	0.992	A
EP300	2033	genome.wustl.edu	37	22	41537115	41537115	+	Nonsense_Mutation	SNP	C	C	T	rs137853039		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr22:41537115C>T	ENST00000263253.7	+	10	3161	c.1942C>T	c.(1942-1944)Cga>Tga	p.R648*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	648					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGAAGAAAAACGAAGGACCAG	0.443			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0			GRCh37	CM052869	EP300	M	rs137853039						84.0	80.0	81.0					22																	41537115		2203	4300	6503	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1942C>T	22.37:g.41537115C>T	ENSP00000263253:p.Arg648*		B1AKC2	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.R648*	ENST00000263253.7	37	c.1942	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	49	15.706483	0.99842	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.29	5.29	0.74685	.	0.000000	0.38381	N	0.001717	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3768	14.9699	0.71226	0.1433:0.8567:0.0:0.0	.	.	.	.	X	648	.	ENSP00000263253:R648X	R	+	1	2	EP300	39867061	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.481000	0.45215	2.620000	0.88729	0.467000	0.42956	CGA	EP300	-	NULL		0.443	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41537115	+1	no_errors	ENST00000263253	ensembl	human	known	70_37	nonsense	SNP	1.000	T
EXTL1	2134	genome.wustl.edu	37	1	26357957	26357957	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:26357957G>A	ENST00000374280.3	+	6	2108	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	414					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGCTCCCGCCCTGAGGGC	0.632																																																	0													12.0	13.0	13.0					1																	26357957		2189	4283	6472	SO:0001583	missense	2134			U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1241G>A	1.37:g.26357957G>A	ENSP00000363398:p.Arg414His		Q6GSC1	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.R414H	ENST00000374280.3	37	c.1241	CCDS271.1	1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633161	0.29068	.	.	ENSG00000158008	ENST00000374280	D	0.95205	-3.64	5.13	0.617	0.17619	.	0.430328	0.24927	N	0.034486	D	0.89989	0.6875	L	0.50333	1.59	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.80690	-0.1270	10	0.41790	T	0.15	-3.0456	8.1304	0.31024	0.394:0.0:0.606:0.0	.	414	Q92935	EXTL1_HUMAN	H	414	ENSP00000363398:R414H	ENSP00000363398:R414H	R	+	2	0	EXTL1	26230544	0.592000	0.26832	0.003000	0.11579	0.990000	0.78478	2.109000	0.41863	0.201000	0.20466	0.561000	0.74099	CGC	EXTL1	-	NULL		0.632	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL1	HGNC	protein_coding	OTTHUMT00000019749.1	G	NM_004455		26357957	+1	no_errors	ENST00000374280	ensembl	human	known	70_37	missense	SNP	0.000	A
FBXW7	55294	genome.wustl.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	99	Substitution - Missense(98)|Unknown(1)	haematopoietic_and_lymphoid_tissue(41)|large_intestine(27)|endometrium(20)|stomach(6)|biliary_tract(4)|pancreas(1)											260.0	223.0	235.0					4																	153249385		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1393C>T	4.37:g.153249385G>A	ENSP00000281708:p.Arg465Cys		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R465C	ENST00000281708.4	37	c.1393	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909959	0.92107	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.71206	2.165	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;1.0	T	0.67130	-0.5748	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:0.0:1.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	465;347;385;289	ENSP00000281708:R465C;ENSP00000296555:R347C;ENSP00000263981:R385C;ENSP00000377528:R289C	ENSP00000263981:R385C	R	-	1	0	FBXW7	153468835	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	CGT	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153249385	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	A
FKBP10	60681	genome.wustl.edu	37	17	39974356	39974356	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr17:39974356C>T	ENST00000321562.4	+	3	511	c.407C>T	c.(406-408)cCg>cTg	p.P136L	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	136	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.		P -> L (in BRKS1). {ECO:0000269|PubMed:22949511}.		chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CTCATTCCACCGGATGCCACC	0.622																																																	0													38.0	36.0	36.0					17																	39974356		2203	4300	6503	SO:0001583	missense	60681			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.407C>T	17.37:g.39974356C>T	ENSP00000317232:p.Pro136Leu		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom	p.P136L	ENST00000321562.4	37	c.407	CCDS11409.1	17	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181641	0.78677	.	.	ENSG00000141756	ENST00000269598;ENST00000429461;ENST00000321562;ENST00000414352	T;T	0.60920	0.15;0.15	5.53	4.57	0.56435	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.072927	0.53938	D	0.000047	T	0.80481	0.4631	H	0.94620	3.56	0.80722	D	1	D	0.71674	0.998	D	0.62955	0.909	D	0.86123	0.1570	10	0.72032	D	0.01	-20.1069	14.0952	0.65016	0.0:0.9269:0.0:0.0731	.	136	Q96AY3	FKB10_HUMAN	L	136;76;136;136	ENSP00000408232:P76L;ENSP00000317232:P136L	ENSP00000269598:P136L	P	+	2	0	FKBP10	37227882	1.000000	0.71417	0.966000	0.40874	0.699000	0.40488	6.079000	0.71291	1.369000	0.46134	0.561000	0.74099	CCG	FKBP10	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom		0.622	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP10	HGNC	protein_coding	OTTHUMT00000257410.2	C	NM_021939		39974356	+1	no_errors	ENST00000321562	ensembl	human	known	70_37	missense	SNP	0.999	T
GAB3	139716	genome.wustl.edu	37	X	153906377	153906378	+	3'UTR	INS	-	-	A	rs371001859		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chrX:153906377_153906378insA	ENST00000369575.3	-	0	1869_1870				GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_3'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3						macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTTTAGTGGACaaaaaaaaaaa	0.411																																																	0																																										SO:0001624	3_prime_UTR_variant	139716			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.*78->T	X.37:g.153906388_153906388dupA			A6NHF8|E9PB44	RNA	INS	-	NULL	ENST00000369575.3	37	NULL	CCDS14760.1	X																																																																																			GAB3	-	-		0.411	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB3	HGNC	protein_coding	OTTHUMT00000061192.2	-	NM_001081573		153906378	-1	no_errors	ENST00000496390	ensembl	human	known	70_37	rna	INS	0.004:0.006	A
GHR	2690	genome.wustl.edu	37	5	42629161	42629161	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr5:42629161G>C	ENST00000230882.4	+	3	282	c.92G>C	c.(91-93)aGa>aCa	p.R31T	GHR_ENST00000357703.3_Intron|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	31					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATCCTTAGCAGAGCACCCTGG	0.378																																																	0													100.0	108.0	106.0					5																	42629161		1821	4043	5864	SO:0001583	missense	2690				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.92G>C	5.37:g.42629161G>C	ENSP00000230882:p.Arg31Thr		Q9HCX2	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.R31T	ENST00000230882.4	37	c.92	CCDS3940.1	5	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908247	0.52333	.	.	ENSG00000112964	ENST00000230882;ENST00000356276	D	0.84730	-1.89	4.21	2.4	0.29515	.	0.700707	0.13199	N	0.406082	T	0.66366	0.2782	N	0.08118	0	0.45852	D	0.998718	B	0.26935	0.164	B	0.19946	0.027	T	0.56007	-0.8050	10	0.25106	T	0.35	-1.2447	6.2442	0.20807	0.218:0.0:0.782:0.0	.	31	P10912	GHR_HUMAN	T	31	ENSP00000230882:R31T	ENSP00000230882:R31T	R	+	2	0	GHR	42664918	0.235000	0.23794	0.596000	0.28811	0.693000	0.40251	0.339000	0.19875	0.702000	0.31825	0.655000	0.94253	AGA	GHR	-	NULL		0.378	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	G	NM_000163		42629161	+1	no_errors	ENST00000230882	ensembl	human	known	70_37	missense	SNP	0.721	C
GFPT2	9945	genome.wustl.edu	37	5	179751886	179751886	+	Silent	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr5:179751886G>A	ENST00000253778.8	-	8	775	c.606C>T	c.(604-606)agC>agT	p.S202S	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	202	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TGAGCAGGGGGCTGCCTCTCC	0.527																																																	0													80.0	85.0	83.0					5																	179751886		1951	4151	6102	SO:0001819	synonymous_variant	9945			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.606C>T	5.37:g.179751886G>A			Q53XM2|Q9BWS4	Silent	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.S202	ENST00000253778.8	37	c.606	CCDS43411.1	5																																																																																			GFPT2	-	pfam_GATase_dom		0.527	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	G	NM_005110		179751886	-1	no_errors	ENST00000253778	ensembl	human	known	70_37	silent	SNP	1.000	A
GPR115	221393	genome.wustl.edu	37	6	47682098	47682098	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr6:47682098G>T	ENST00000283303.2	+	6	1375	c.1117G>T	c.(1117-1119)Gaa>Taa	p.E373*	GPR115_ENST00000327753.3_Nonsense_Mutation_p.E373*|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Nonsense_Mutation_p.E430*	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	373	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TATCAGGAACGAAGTGAAATG	0.473																																					GBM(22;431 510 9010 26644 32828)												0													140.0	116.0	124.0					6																	47682098		2203	4300	6503	SO:0001587	stop_gained	221393			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1117G>T	6.37:g.47682098G>T	ENSP00000283303:p.Glu373*		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.E430*	ENST00000283303.2	37	c.1288	CCDS4922.2	6	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671820	0.67928	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	.	.	.	5.26	-0.687	0.11320	.	0.875716	0.10251	N	0.697176	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6194	5.7059	0.17909	0.504:0.141:0.355:0.0	.	.	.	.	X	430;373;373	.	ENSP00000283303:E373X	E	+	1	0	GPR115	47790057	0.000000	0.05858	0.004000	0.12327	0.136000	0.21042	1.065000	0.30592	-0.212000	0.10109	-0.290000	0.09829	GAA	GPR115	-	pfam_GPS_dom,pfscan_GPS_dom		0.473	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR115	HGNC	protein_coding	OTTHUMT00000040819.2	G	NM_153838		47682098	+1	no_errors	ENST00000371220	ensembl	human	known	70_37	nonsense	SNP	0.000	T
GPR3	2827	genome.wustl.edu	37	1	27720315	27720315	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:27720315G>A	ENST00000374024.3	+	2	112	c.13G>A	c.(13-15)Gca>Aca	p.A5T		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	5					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		GATGTGGGGTGCAGGCAGCCC	0.632																																																	0													100.0	104.0	103.0					1																	27720315		2203	4300	6503	SO:0001583	missense	2827			BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"""GPCR / Class A : Orphans"""	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.13G>A	1.37:g.27720315G>A	ENSP00000363136:p.Ala5Thr		A8K570	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_orph_rcpt,prints_GPR3_rcpt,prints_GPCR_Rhodpsn	p.A5T	ENST00000374024.3	37	c.13	CCDS303.1	1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477877	0.26511	.	.	ENSG00000181773	ENST00000374024	T	0.74737	-0.87	5.31	4.4	0.53042	.	0.323047	0.23409	N	0.048483	T	0.55033	0.1895	N	0.22421	0.69	0.33569	D	0.598416	B	0.20052	0.041	B	0.23150	0.044	T	0.53563	-0.8421	10	0.02654	T	1	.	9.9419	0.41585	0.0941:0.0:0.9059:0.0	.	5	P46089	GPR3_HUMAN	T	5	ENSP00000363136:A5T	ENSP00000363136:A5T	A	+	1	0	GPR3	27592902	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	2.577000	0.46042	1.252000	0.44001	-0.379000	0.06801	GCA	GPR3	-	prints_GPR3_rcpt		0.632	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR3	HGNC	protein_coding	OTTHUMT00000009522.1	G	NM_005281		27720315	+1	no_errors	ENST00000374024	ensembl	human	known	70_37	missense	SNP	0.878	A
GPR45	11250	genome.wustl.edu	37	2	105858922	105858922	+	Missense_Mutation	SNP	G	G	A	rs560190604		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr2:105858922G>A	ENST00000258456.1	+	1	723	c.607G>A	c.(607-609)Gtg>Atg	p.V203M		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GGTGGTGGCCGTGTTCTTCGC	0.672																																																	0													41.0	38.0	39.0					2																	105858922		2203	4300	6503	SO:0001583	missense	11250			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.607G>A	2.37:g.105858922G>A	ENSP00000258456:p.Val203Met		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V203M	ENST00000258456.1	37	c.607	CCDS2066.1	2	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056289	0.55325	.	.	ENSG00000135973	ENST00000258456	T	0.73152	-0.72	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.146155	0.44688	D	0.000422	T	0.75034	0.3795	M	0.65498	2.005	0.52099	D	0.999948	P	0.51351	0.944	P	0.52957	0.714	T	0.75676	-0.3235	10	0.45353	T	0.12	-15.146	10.0802	0.42384	0.1317:0.0:0.8683:0.0	.	203	Q9Y5Y3	GPR45_HUMAN	M	203	ENSP00000258456:V203M	ENSP00000258456:V203M	V	+	1	0	GPR45	105225354	1.000000	0.71417	0.985000	0.45067	0.349000	0.29174	3.395000	0.52558	2.337000	0.79520	0.462000	0.41574	GTG	GPR45	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.672	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR45	HGNC	protein_coding	OTTHUMT00000253348.1	G	NM_007227		105858922	+1	no_errors	ENST00000258456	ensembl	human	known	70_37	missense	SNP	0.952	A
GPR39	2863	genome.wustl.edu	37	2	133402986	133402986	+	Missense_Mutation	SNP	G	G	A	rs548819578		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr2:133402986G>A	ENST00000329321.3	+	2	1638	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	390			R -> C (in dbSNP:rs16838944).		G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTGTGCAGCGCCCGTTGCTC	0.627																																																	0													41.0	43.0	43.0					2																	133402986		2203	4300	6503	SO:0001583	missense	2863			AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1169G>A	2.37:g.133402986G>A	ENSP00000327417:p.Arg390His		B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R390H	ENST00000329321.3	37	c.1169	CCDS2170.1	2	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626000	0.46840	.	.	ENSG00000183840	ENST00000329321	T	0.65549	-0.16	5.15	5.15	0.70609	.	3.095510	0.01007	N	0.003779	T	0.78534	0.4298	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	P	0.54965	0.765	T	0.65990	-0.6034	10	0.66056	D	0.02	.	18.8727	0.92322	0.0:0.0:1.0:0.0	.	390	O43194	GPR39_HUMAN	H	390	ENSP00000327417:R390H	ENSP00000327417:R390H	R	+	2	0	GPR39	133119456	1.000000	0.71417	0.994000	0.49952	0.018000	0.09664	2.018000	0.40991	2.692000	0.91855	0.650000	0.86243	CGC	GPR39	-	NULL		0.627	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR39	HGNC	protein_coding	OTTHUMT00000254582.1	G			133402986	+1	no_errors	ENST00000329321	ensembl	human	known	70_37	missense	SNP	1.000	A
HAO1	54363	genome.wustl.edu	37	20	7886947	7886947	+	Nonsense_Mutation	SNP	G	G	C	rs569371584	byFrequency	TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr20:7886947G>C	ENST00000378789.3	-	4	626	c.575C>G	c.(574-576)tCa>tGa	p.S192*		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	192	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.S192*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGGAGAAAATGATAAAGTACT	0.343																																																	1	Substitution - Nonsense(1)	lung(1)											72.0	73.0	73.0					20																	7886947		2203	4300	6503	SO:0001587	stop_gained	54363			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.575C>G	20.37:g.7886947G>C	ENSP00000368066:p.Ser192*		Q14CQ0|Q9UPZ0|Q9Y3I7	Nonsense_Mutation	SNP	pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN	p.S192*	ENST00000378789.3	37	c.575	CCDS13100.1	20	.	.	.	.	.	.	.	.	.	.	G	31	5.078577	0.94050	.	.	ENSG00000101323	ENST00000378789	.	.	.	5.54	5.54	0.83059	.	0.165435	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-0.2561	15.8275	0.78725	0.0:0.0:0.8637:0.1363	.	.	.	.	X	192	.	ENSP00000368066:S192X	S	-	2	0	HAO1	7834947	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	6.054000	0.71096	2.596000	0.87737	0.591000	0.81541	TCA	HAO1	-	pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN		0.343	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO1	HGNC	protein_coding	OTTHUMT00000077926.2	G			7886947	-1	no_errors	ENST00000378789	ensembl	human	known	70_37	nonsense	SNP	1.000	C
IGF2R	3482	genome.wustl.edu	37	6	160485837	160485837	+	Splice_Site	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr6:160485837C>T	ENST00000356956.1	+	29	4167	c.4019C>T	c.(4018-4020)cCa>cTa	p.P1340L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1340					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTTTTTTAGCCAGTATTTCTA	0.348																																																	0													115.0	104.0	108.0					6																	160485837		2203	4300	6503	SO:0001630	splice_region_variant	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4018-1C>T	6.37:g.160485837C>T			Q7Z7G9|Q96PT5	Missense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.P1340L	ENST00000356956.1	37	c.4019	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870104	0.72065	.	.	ENSG00000197081	ENST00000356956	T	0.02974	4.09	5.19	5.19	0.71726	Mannose-6-phosphate receptor, binding (1);	0.057353	0.64402	N	0.000001	T	0.10380	0.0254	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.39941	-0.9589	10	0.12430	T	0.62	-7.043	18.7434	0.91782	0.0:1.0:0.0:0.0	.	1340	P11717	MPRI_HUMAN	L	1340	ENSP00000349437:P1340L	ENSP00000349437:P1340L	P	+	2	0	IGF2R	160405827	1.000000	0.71417	0.617000	0.29091	0.277000	0.26821	7.283000	0.78640	2.430000	0.82344	0.655000	0.94253	CCA	IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom		0.348	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	C	NM_000876	Missense_Mutation	160485837	+1	no_errors	ENST00000356956	ensembl	human	known	70_37	missense	SNP	0.641	T
INSR	3643	genome.wustl.edu	37	19	7117417	7117417	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr19:7117417C>A	ENST00000302850.5	-	22	3941	c.3799G>T	c.(3799-3801)Gac>Tac	p.D1267Y	INSR_ENST00000341500.5_Missense_Mutation_p.D1255Y	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CGCATGAGGTCAGTGCTGCGG	0.612																																																	0													72.0	63.0	66.0					19																	7117417		2203	4300	6503	SO:0001583	missense	3643			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3799G>T	19.37:g.7117417C>A	ENSP00000303830:p.Asp1267Tyr		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D1267Y	ENST00000302850.5	37	c.3799	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457738	0.26161	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.90844	-2.74;-2.74	5.14	1.7	0.24286	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.841780	0.10103	N	0.715772	D	0.84817	0.5556	L	0.41632	1.29	0.24885	N	0.992207	B;B	0.21071	0.041;0.051	B;B	0.19391	0.024;0.025	T	0.75593	-0.3264	10	0.72032	D	0.01	.	5.5794	0.17241	0.0:0.5111:0.0:0.4889	.	1255;1267	P06213-2;P06213	.;INSR_HUMAN	Y	1267;1255	ENSP00000303830:D1267Y;ENSP00000342838:D1255Y	ENSP00000303830:D1267Y	D	-	1	0	INSR	7068417	0.978000	0.34361	0.219000	0.23793	0.618000	0.37518	2.190000	0.42630	0.677000	0.31305	0.563000	0.77884	GAC	INSR	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.612	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	C			7117417	-1	no_errors	ENST00000302850	ensembl	human	known	70_37	missense	SNP	0.461	A
INTS1	26173	genome.wustl.edu	37	7	1535823	1535823	+	Silent	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr7:1535823G>A	ENST00000404767.3	-	12	1765	c.1680C>T	c.(1678-1680)gcC>gcT	p.A560A	INTS1_ENST00000389470.4_Silent_p.A688A	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	560					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGGCGATGCCGGCCTCCTTCA	0.657																																																	0													80.0	95.0	90.0					7																	1535823		2105	4216	6321	SO:0001819	synonymous_variant	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1680C>T	7.37:g.1535823G>A			A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.A688	ENST00000404767.3	37	c.2064	CCDS47526.1	7																																																																																			INTS1	-	NULL		0.657	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	G			1535823	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	silent	SNP	0.008	A
KANSL1	284058	genome.wustl.edu	37	17	44109643	44109643	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr17:44109643G>A	ENST00000262419.6	-	14	3330	c.2860C>T	c.(2860-2862)Cgg>Tgg	p.R954W	KANSL1_ENST00000575318.1_Missense_Mutation_p.R890W|KANSL1_ENST00000393476.3_Missense_Mutation_p.R248W|KANSL1_ENST00000572904.1_Missense_Mutation_p.R954W|KANSL1_ENST00000574590.1_Missense_Mutation_p.R954W|KANSL1_ENST00000432791.1_Missense_Mutation_p.R954W	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	954	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGGGTTGTCCGGCCGTCTGAT	0.562																																																	0													40.0	44.0	43.0					17																	44109643		2203	4298	6501	SO:0001583	missense	284058			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2860C>T	17.37:g.44109643G>A	ENSP00000262419:p.Arg954Trp		A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	NULL	p.R954W	ENST00000262419.6	37	c.2860	CCDS11503.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.269840	0.95429	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.28255	2.44;2.44;1.62	5.2	5.2	0.72013	.	0.135774	0.50627	D	0.000105	T	0.52517	0.1739	L	0.55990	1.75	0.53005	D	0.999965	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.52631	-0.8550	10	0.87932	D	0	-10.8125	17.4764	0.87660	0.0:0.0:1.0:0.0	.	222;285;954;954	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	W	954;954;248	ENSP00000262419:R954W;ENSP00000387393:R954W;ENSP00000377117:R248W	ENSP00000262419:R954W	R	-	1	2	KIAA1267	41465490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.626000	0.74253	2.706000	0.92434	0.561000	0.74099	CGG	KANSL1	-	NULL		0.562	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	HGNC	protein_coding	OTTHUMT00000440274.1	G	NM_015443		44109643	-1	no_errors	ENST00000262419	ensembl	human	known	70_37	missense	SNP	1.000	A
KLHDC1	122773	genome.wustl.edu	37	14	50218437	50218437	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr14:50218437A>G	ENST00000359332.2	+	13	1258	c.1168A>G	c.(1168-1170)Aga>Gga	p.R390G		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	390						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					AGAAGAACAAAGAGTCCAAAA	0.294																																																	0													52.0	54.0	53.0					14																	50218437		2203	4299	6502	SO:0001583	missense	122773			AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.1168A>G	14.37:g.50218437A>G	ENSP00000352282:p.Arg390Gly		B3KXD9|Q8WYI1	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Gal_Oxase/kelch_b-propeller	p.R390G	ENST00000359332.2	37	c.1168	CCDS9692.1	14	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473155	0.43942	.	.	ENSG00000197776	ENST00000359332	T	0.12672	2.66	5.53	4.38	0.52667	.	0.325878	0.27856	N	0.017566	T	0.10637	0.0260	L	0.36672	1.1	0.28522	N	0.913012	B	0.30482	0.281	B	0.19391	0.025	T	0.11567	-1.0582	10	0.72032	D	0.01	-10.4499	9.4863	0.38931	0.9156:0.0:0.0843:0.0	.	390	Q8N7A1	KLDC1_HUMAN	G	390	ENSP00000352282:R390G	ENSP00000352282:R390G	R	+	1	2	KLHDC1	49288187	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.475000	0.45162	0.917000	0.36895	0.383000	0.25322	AGA	KLHDC1	-	NULL		0.294	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC1	HGNC	protein_coding	OTTHUMT00000276882.2	A	NM_172193		50218437	+1	no_errors	ENST00000359332	ensembl	human	known	70_37	missense	SNP	1.000	G
G6PC	2538	genome.wustl.edu	37	17	41050668	41050668	+	5'Flank	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr17:41050668C>T	ENST00000253801.2	+	0	0				G6PC_ENST00000592383.1_5'Flank|LINC00671_ENST00000301683.3_lincRNA|G6PC_ENST00000585489.1_5'Flank	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit						carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CAAGGTTAGGCGTGGCAGGAG	0.577																																																	0																																										SO:0001631	upstream_gene_variant	388387			U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575			17.37:g.41050668C>T	Exception_encountered		A1L4C0|B4E1C3|K7EL82	RNA	SNP	-	NULL	ENST00000253801.2	37	NULL	CCDS11446.1	17																																																																																			LINC00671	-	-		0.577	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LINC00671	HGNC	protein_coding	OTTHUMT00000452451.1	C	NM_000151		41050668	-1	no_errors	ENST00000301683	ensembl	human	known	70_37	rna	SNP	0.000	T
AL589743.1	0	genome.wustl.edu	37	14	19686757	19686757	+	lincRNA	SNP	A	A	G	rs61968598		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr14:19686757A>G	ENST00000418499.3	+	0	3868																											TGGCAGGCACACGGGGCCTCT	0.662																																																	0																																												100506303																															14.37:g.19686757A>G				RNA	SNP	-	NULL	ENST00000418499.3	37	NULL		14																																																																																			AL589743.1	-	-		0.662	AL589743.1-003	KNOWN	basic	lincRNA	LOC100506303	Clone_based_vega_gene	lincRNA	OTTHUMT00000317887.3	A			19686757	+1	no_errors	ENST00000418499	ensembl	human	known	70_37	rna	SNP	0.130	G
LINC01410	103352539	genome.wustl.edu	37	9	66466172	66466172	+	lincRNA	SNP	T	T	C			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr9:66466172T>C	ENST00000424345.1	+	0	805																											GAATTGTACATGGTCCtgtga	0.418																																																	0																																												100996870																															9.37:g.66466172T>C				RNA	SNP	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RP11-262H14.1	-	-		0.418	RP11-262H14.1-001	KNOWN	basic	lincRNA	LOC100996870	Clone_based_vega_gene	lincRNA	OTTHUMT00000128851.1	T			66466172	+1	no_errors	ENST00000424345	ensembl	human	known	70_37	rna	SNP	0.124	C
LINC00961	158376	genome.wustl.edu	37	9	35910639	35910639	+	lincRNA	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr9:35910639G>A	ENST00000443779.1	+	0	568					NR_024283.1				long intergenic non-protein coding RNA 961																		GGGCCTGTTCGCCATGCCCAG	0.632											OREG0019183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												158376					9p13.3	2013-06-07			ENSG00000235387	ENSG00000235387		"""Long non-coding RNAs"""	27244	non-coding RNA	RNA, long non-coding							Standard	NR_024283		Approved				OTTHUMG00000019887		9.37:g.35910639G>A		858		RNA	SNP	-	NULL	ENST00000443779.1	37	NULL		9																																																																																			RP11-327L3.1	-	-		0.632	LINC00961-001	KNOWN	basic	lincRNA	LOC158376	Clone_based_vega_gene	lincRNA	OTTHUMT00000052396.1	G			35910639	+1	no_errors	ENST00000443779	ensembl	human	known	70_37	rna	SNP	0.006	A
LINC01410	103352539	genome.wustl.edu	37	9	66466586	66466586	+	lincRNA	SNP	G	G	A	rs74456634		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr9:66466586G>A	ENST00000424345.1	+	0	1219																											aacaaaaccagccccttcctc	0.423																																																	0																																												100996870																															9.37:g.66466586G>A				RNA	SNP	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RP11-262H14.1	-	-		0.423	RP11-262H14.1-001	KNOWN	basic	lincRNA	LOC100996870	Clone_based_vega_gene	lincRNA	OTTHUMT00000128851.1	G			66466586	+1	no_errors	ENST00000424345	ensembl	human	known	70_37	rna	SNP	0.021	A
LRIF1	55791	genome.wustl.edu	37	1	111494603	111494603	+	Silent	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:111494603C>T	ENST00000369763.4	-	2	1293	c.903G>A	c.(901-903)acG>acA	p.T301T	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CAAGAGATGGCGTAAAAGGCT	0.348																																																	0													100.0	95.0	96.0					1																	111494603		2203	4300	6503	SO:0001819	synonymous_variant	55791			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.903G>A	1.37:g.111494603C>T			Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Silent	SNP	NULL	p.T301	ENST00000369763.4	37	c.903	CCDS30800.1	1																																																																																			LRIF1	-	NULL		0.348	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRIF1	HGNC	protein_coding	OTTHUMT00000032932.2	C	NM_018372		111494603	-1	no_errors	ENST00000369763	ensembl	human	known	70_37	silent	SNP	0.898	T
LRP5	4041	genome.wustl.edu	37	11	68197163	68197163	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr11:68197163G>A	ENST00000294304.7	+	17	3864	c.3758G>A	c.(3757-3759)tGt>tAt	p.C1253Y		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1253	EGF-like 4.		C -> F (in EVR4). {ECO:0000269|PubMed:20340138}.		adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGCTGACCTGTGGAGGTAGG	0.562																																																	0													127.0	94.0	105.0					11																	68197163		2200	4294	6494	SO:0001583	missense	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3758G>A	11.37:g.68197163G>A	ENSP00000294304:p.Cys1253Tyr		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.C1253Y	ENST00000294304.7	37	c.3758	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421843	0.83559	.	.	ENSG00000162337	ENST00000294304	D	0.99953	-8.81	4.96	4.96	0.65561	Epidermal growth factor-like (1);	0.000000	0.53938	U	0.000049	D	0.99967	0.9988	H	0.98507	4.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96658	0.9487	10	0.87932	D	0	.	18.47	0.90769	0.0:0.0:1.0:0.0	.	1253;1253	Q9UES7;O75197	.;LRP5_HUMAN	Y	1253	ENSP00000294304:C1253Y	ENSP00000294304:C1253Y	C	+	2	0	LRP5	67953739	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.145000	0.94634	2.606000	0.88127	0.543000	0.68304	TGT	LRP5	-	smart_EG-like_dom,pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.562	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	G	NM_002335		68197163	+1	no_errors	ENST00000294304	ensembl	human	known	70_37	missense	SNP	1.000	A
MFAP3L	9848	genome.wustl.edu	37	4	170912847	170912847	+	Silent	SNP	G	G	A	rs377059924		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr4:170912847G>A	ENST00000361618.3	-	3	1219	c.912C>T	c.(910-912)gaC>gaT	p.D304D	MFAP3L_ENST00000393704.3_Silent_p.D201D|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GCGATGAGGCGTCCGAGTCAG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18805	0.001		0.0	False		,,,				2504	0.0																0													64.0	56.0	59.0					4																	170912847		2203	4300	6503	SO:0001819	synonymous_variant	9848			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.912C>T	4.37:g.170912847G>A			A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D304	ENST00000361618.3	37	c.912	CCDS34103.1	4																																																																																			MFAP3L	-	NULL		0.577	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3L	HGNC	protein_coding	OTTHUMT00000363043.2	G	NM_021647		170912847	-1	no_errors	ENST00000361618	ensembl	human	known	70_37	silent	SNP	0.429	A
MIA3	375056	genome.wustl.edu	37	1	222803455	222803455	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:222803455G>A	ENST00000344922.5	+	4	2918	c.2893G>A	c.(2893-2895)Gag>Aag	p.E965K	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.E965K|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	965					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGCGCAGCAGGAGAGCCTGCC	0.433																																																	0													75.0	73.0	74.0					1																	222803455		1994	4182	6176	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2893G>A	1.37:g.222803455G>A	ENSP00000340900:p.Glu965Lys		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.E965K	ENST00000344922.5	37	c.2893	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.78|13.78	2.338103|2.338103	0.41398|0.41398	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.04603|.	3.59;3.59|.	5.25|5.25	4.34|4.34	0.51931|0.51931	.|.	.|.	.|.	.|.	.|.	T|T	0.35219|0.35219	0.0924|0.0924	L|L	0.31752|0.31752	0.955|0.955	0.21897|0.21897	N|N	0.999486|0.999486	D;B|.	0.56287|.	0.975;0.007|.	P;B|.	0.56343|.	0.796;0.005|.	T|T	0.19910|0.19910	-1.0291|-1.0291	9|5	0.41790|.	T|.	0.15|.	.|.	10.2707|10.2707	0.43481|0.43481	0.0742:0.1364:0.7894:0.0|0.0742:0.1364:0.7894:0.0	.|.	965;965|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	K|E	965|547	ENSP00000340900:E965K;ENSP00000340587:E965K|.	ENSP00000325973:E965K|.	E|G	+|+	1|2	0|0	MIA3|MIA3	220870078|220870078	0.077000|0.077000	0.21312|0.21312	0.988000|0.988000	0.46212|0.46212	0.772000|0.772000	0.43724|0.43724	1.414000|1.414000	0.34736|0.34736	1.353000|1.353000	0.45828|0.45828	0.462000|0.462000	0.41574|0.41574	GAG|GGA	MIA3	-	NULL		0.433	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	G	NM_198551		222803455	+1	no_errors	ENST00000344441	ensembl	human	known	70_37	missense	SNP	0.689	A
MLF1	4291	genome.wustl.edu	37	3	158317887	158317887	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr3:158317887C>T	ENST00000355893.5	+	5	631	c.493C>T	c.(493-495)Cat>Tat	p.H165Y	MLF1_ENST00000359117.5_Missense_Mutation_p.H140Y|MLF1_ENST00000469452.1_Missense_Mutation_p.H97Y|MLF1_ENST00000484955.1_Missense_Mutation_p.H140Y|MLF1_ENST00000482628.1_Missense_Mutation_p.H140Y|MLF1_ENST00000471745.1_Missense_Mutation_p.H155Y|MLF1_ENST00000478894.2_Missense_Mutation_p.H155Y|MLF1_ENST00000392822.3_Missense_Mutation_p.H196Y|MLF1_ENST00000497004.1_3'UTR	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	165					cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)	p.H196Y(1)|p.H165Y(1)		large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TGACCGAGCTCATGTCATTAA	0.338			T	NPM1	AML																																			Dom	yes		3	3q25.1	4291	myeloid leukemia factor 1		L	2	Substitution - Missense(2)	lung(2)											81.0	90.0	87.0					3																	158317887		2203	4300	6503	SO:0001583	missense	4291			L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"""myeloid leukemia factor 1 variant 1"", ""myeloid leukemia factor 1 variant 2"", ""myeloid leukemia factor 1 variant 3"""	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.493C>T	3.37:g.158317887C>T	ENSP00000348157:p.His165Tyr		E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Missense_Mutation	SNP	pfam_Myeloid_leukemia_factor	p.H196Y	ENST00000355893.5	37	c.586	CCDS3182.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.186665	0.94885	.	.	ENSG00000178053	ENST00000491767;ENST00000355893;ENST00000484955;ENST00000359117;ENST00000498592;ENST00000477042;ENST00000471745;ENST00000469452;ENST00000482628;ENST00000478894;ENST00000392822;ENST00000466246	T;T;T;T;T;T;T;T;T;T	0.68903	-0.09;-0.27;-0.24;-0.24;-0.18;-0.27;0.05;-0.24;-0.27;-0.36	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.84584	0.5504	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.85027	0.0915	10	0.72032	D	0.01	-22.8716	20.6397	0.99537	0.0:1.0:0.0:0.0	.	97;196;165	Q2TLE5;Q8N8F8;P58340	.;.;MLF1_HUMAN	Y	91;165;140;140;120;155;155;97;140;155;196;180	ENSP00000420410:H91Y;ENSP00000348157:H165Y;ENSP00000417835:H140Y;ENSP00000352025:H140Y;ENSP00000419636:H120Y;ENSP00000420134:H155Y;ENSP00000418595:H97Y;ENSP00000417141:H140Y;ENSP00000417777:H155Y;ENSP00000376568:H196Y	ENSP00000348157:H165Y	H	+	1	0	MLF1	159800581	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.358000	0.79466	2.880000	0.98712	0.650000	0.86243	CAT	MLF1	-	pfam_Myeloid_leukemia_factor		0.338	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLF1	HGNC	protein_coding	OTTHUMT00000352164.3	C	NM_022443		158317887	+1	no_errors	ENST00000392822	ensembl	human	known	70_37	missense	SNP	1.000	T
KMT2D	8085	genome.wustl.edu	37	12	49434580	49434580	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr12:49434580C>T	ENST00000301067.7	-	31	6972	c.6973G>A	c.(6973-6975)Gat>Aat	p.D2325N		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2325	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TTGAAGACATCAGGTGTCTTT	0.637																																																	0													22.0	24.0	23.0					12																	49434580		1843	4089	5932	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6973G>A	12.37:g.49434580C>T	ENSP00000301067:p.Asp2325Asn		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D2325N	ENST00000301067.7	37	c.6973	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348857	0.24426	.	.	ENSG00000167548	ENST00000301067	T	0.80566	-1.39	5.07	5.07	0.68467	.	0.000000	0.39834	N	0.001253	T	0.66376	0.2783	N	0.22421	0.69	0.26991	N	0.96514	B	0.33549	0.417	B	0.24269	0.052	T	0.66221	-0.5978	10	0.87932	D	0	.	11.8578	0.52449	0.0:0.9144:0.0:0.0856	.	2325	O14686	MLL2_HUMAN	N	2325	ENSP00000301067:D2325N	ENSP00000301067:D2325N	D	-	1	0	MLL2	47720847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.729000	0.47327	2.536000	0.85505	0.655000	0.94253	GAT	MLL2	-	NULL		0.637	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49434580	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	0.998	T
MSMB	4477	genome.wustl.edu	37	10	51556890	51556890	+	Intron	SNP	A	A	G			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr10:51556890A>G	ENST00000358559.2	+	3	302				MSMB_ENST00000298239.6_Intron|MSMB_ENST00000474170.1_3'UTR	NM_002443.3	NP_002434.1	P08118	MSMB_HUMAN	microseminoprotein, beta-							extracellular space (GO:0005615)|nucleus (GO:0005634)				lung(4)|ovary(2)|prostate(1)	7						CAAGAGGGGGACATAGCTGTT	0.433																																																	0													47.0	38.0	41.0					10																	51556890		2203	4300	6503	SO:0001627	intron_variant	4477			BC005257	CCDS73095.1, CCDS73096.1	10q11.2	2014-05-06			ENSG00000138294	ENSG00000263639			7372	protein-coding gene	gene with protein product		157145				1783399	Standard	NM_002443		Approved	PSP-94, PSP57, PSP94, IGBF, MSP, MSPB, PN44, PRPS, PSP	uc001jiq.3	P08118	OTTHUMG00000188315	ENST00000358559.2:c.215+34A>G	10.37:g.51556890A>G			B1API6|P11999|Q13125|Q6IAY9|Q9UC59	RNA	SNP	-	NULL	ENST00000358559.2	37	NULL	CCDS7235.1	10																																																																																			MSMB	-	-		0.433	MSMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSMB	HGNC	protein_coding	OTTHUMT00000048034.1	A	NM_002443, NM_138634		51556890	+1	no_errors	ENST00000474170	ensembl	human	known	70_37	rna	SNP	0.000	G
NAA15	80155	genome.wustl.edu	37	4	140270690	140270690	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr4:140270690G>T	ENST00000296543.5	+	7	1089	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Nonsense_Mutation_p.E256*	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	256					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)	p.E256K(1)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAGAAATCCTGAAAACTGGGC	0.323																																																	1	Substitution - Missense(1)	lung(1)											45.0	43.0	43.0					4																	140270690		1799	4077	5876	SO:0001587	stop_gained	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.766G>T	4.37:g.140270690G>T	ENSP00000296543:p.Glu256*		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Nonsense_Mutation	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E256*	ENST00000296543.5	37	c.766	CCDS43270.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.606501	0.98387	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	.	.	.	5.44	4.6	0.57074	.	0.102934	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.2601	15.8229	0.78673	0.0:0.0:0.8632:0.1368	.	.	.	.	X	256;130;256	.	ENSP00000296543:E256X	E	+	1	0	NAA15	140490140	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.112000	0.94314	1.517000	0.48917	0.655000	0.94253	GAA	NAA15	-	smart_TPR_repeat,pirsf_NatA_aux_su		0.323	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	G	NM_057175		140270690	+1	no_errors	ENST00000296543	ensembl	human	known	70_37	nonsense	SNP	1.000	T
NAP1L3	4675	genome.wustl.edu	37	X	92927307	92927307	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chrX:92927307C>T	ENST00000373079.3	-	1	1260	c.997G>A	c.(997-999)Gat>Aat	p.D333N	FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000332647.4_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.D326N	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	333					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ATGGGCTCATCATACTTCTGA	0.428																																																	0													56.0	52.0	53.0					X																	92927307		2203	4300	6503	SO:0001583	missense	4675				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.997G>A	X.37:g.92927307C>T	ENSP00000362171:p.Asp333Asn		B2RCM0|O60788	Missense_Mutation	SNP	pfam_NAP_family	p.D333N	ENST00000373079.3	37	c.997	CCDS14465.1	X	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873305	0.72180	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.71934	-0.61	3.68	3.68	0.42216	.	0.000000	0.85682	D	0.000000	D	0.85465	0.5703	M	0.90425	3.115	0.38692	D	0.952782	D	0.89917	1.0	D	0.91635	0.999	D	0.89307	0.3630	10	0.87932	D	0	.	12.5238	0.56075	0.0:1.0:0.0:0.0	.	333	Q99457	NP1L3_HUMAN	N	333;326	ENSP00000362171:D333N	ENSP00000362171:D333N	D	-	1	0	NAP1L3	92813963	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.845000	0.48254	2.107000	0.64212	0.529000	0.55759	GAT	NAP1L3	-	pfam_NAP_family		0.428	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	HGNC	protein_coding	OTTHUMT00000057449.1	C	NM_004538		92927307	-1	no_errors	ENST00000373079	ensembl	human	known	70_37	missense	SNP	1.000	T
NRXN1	9378	genome.wustl.edu	37	2	51149818	51149818	+	Silent	SNP	C	C	T	rs201027928		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr2:51149818C>T	ENST00000406316.2	-	4	2274	c.798G>A	c.(796-798)gcG>gcA	p.A266A	NRXN1_ENST00000405581.1_Silent_p.A266A|NRXN1_ENST00000401669.2_Silent_p.A266A|NRXN1_ENST00000406859.3_Silent_p.A266A|NRXN1_ENST00000405472.3_Silent_p.A266A|NRXN1_ENST00000402717.3_Silent_p.A266A|NRXN1_ENST00000404971.1_Silent_p.A299A	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	266					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.A300A(1)|p.A299A(1)|p.A266A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCATCAGGTGCGCCAGACCTT	0.483																																																	3	Substitution - coding silent(3)	endometrium(3)						C	,	2,4106		0,2,2052	79.0	78.0	78.0		897,798	4.3	1.0	2		78	0,8352		0,0,4176	no	coding-synonymous,coding-synonymous	NRXN1	NM_001135659.1,NM_004801.4	,	0,2,6228	TT,TC,CC		0.0,0.0487,0.0161	,	299/1548,266/1478	51149818	2,12458	2054	4176	6230	SO:0001819	synonymous_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.798G>A	2.37:g.51149818C>T			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.A266	ENST00000406316.2	37	c.798	CCDS54360.1	2																																																																																			NRXN1	-	NULL		0.483	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	C			51149818	-1	no_errors	ENST00000402717	ensembl	human	known	70_37	silent	SNP	1.000	T
OPRD1	4985	genome.wustl.edu	37	1	29189591	29189591	+	Silent	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:29189591G>A	ENST00000234961.2	+	3	1157	c.915G>A	c.(913-915)gcG>gcA	p.A305A		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	305					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TGTGCATCGCGCTGGGCTACG	0.652																																																	0													28.0	25.0	26.0					1																	29189591		2203	4300	6503	SO:0001819	synonymous_variant	4985			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.915G>A	1.37:g.29189591G>A			B5B0B8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_Somatstn_rcpt,prints_P2_purnocptor,prints_NPY_rcpt	p.A305	ENST00000234961.2	37	c.915	CCDS329.1	1																																																																																			OPRD1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opioid_rcpt		0.652	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPRD1	HGNC	protein_coding	OTTHUMT00000010330.1	G	NM_000911		29189591	+1	no_errors	ENST00000234961	ensembl	human	known	70_37	silent	SNP	0.406	A
OR6K2	81448	genome.wustl.edu	37	1	158669736	158669736	+	Missense_Mutation	SNP	C	C	T	rs532035184		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:158669736C>T	ENST00000359610.2	-	1	750	c.707G>A	c.(706-708)cGc>cAc	p.R236H		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	236						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(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AAATGCTGTGCGGCGGCCTCC	0.463																																																	0													111.0	99.0	103.0					1																	158669736		2203	4300	6503	SO:0001583	missense	81448			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.707G>A	1.37:g.158669736C>T	ENSP00000352626:p.Arg236His		B9EH33|Q6IFR6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R236H	ENST00000359610.2	37	c.707	CCDS30902.1	1	.	.	.	.	.	.	.	.	.	.	c	0.124	-1.121461	0.01785	.	.	ENSG00000196171	ENST00000359610	T	0.00034	8.87	4.94	1.02	0.19986	GPCR, rhodopsin-like superfamily (1);	0.190339	0.23780	N	0.044629	T	0.00039	0.0001	N	0.10972	0.075	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.10965	-1.0607	10	0.18710	T	0.47	-1.7032	8.4686	0.32971	0.0:0.6095:0.0:0.3905	.	236	Q8NGY2	OR6K2_HUMAN	H	236	ENSP00000352626:R236H	ENSP00000352626:R236H	R	-	2	0	OR6K2	156936360	0.000000	0.05858	0.056000	0.19401	0.018000	0.09664	-0.834000	0.04391	0.028000	0.15324	-0.726000	0.03593	CGC	OR6K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.463	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K2	HGNC	protein_coding	OTTHUMT00000059061.1	C	NM_001005279		158669736	-1	no_errors	ENST00000359610	ensembl	human	known	70_37	missense	SNP	0.000	T
PCDH9	5101	genome.wustl.edu	37	13	66879055	66879055	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr13:66879055C>T	ENST00000377865.2	-	4	3580	c.3446G>A	c.(3445-3447)gGt>gAt	p.G1149D	PCDH9_ENST00000544246.1_Missense_Mutation_p.G1149D|PCDH9_ENST00000328454.5_Missense_Mutation_p.G1115D|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000456367.1_Missense_Mutation_p.G1115D			Q9HC56	PCDH9_HUMAN	protocadherin 9	1149					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTGATATGGACCCAAGCCAGG	0.517																																																	0													128.0	110.0	116.0					13																	66879055		2203	4300	6503	SO:0001583	missense	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3446G>A	13.37:g.66879055C>T	ENSP00000367096:p.Gly1149Asp		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G1149D	ENST00000377865.2	37	c.3446	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950604	0.53186	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.54866	0.6;0.6;0.55;0.55	6.05	6.05	0.98169	.	0.129696	0.35708	N	0.003021	T	0.42200	0.1192	N	0.14661	0.345	0.43279	D	0.995248	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.08055	0.002;0.003;0.002	T	0.25187	-1.0139	10	0.72032	D	0.01	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	1107;1115;1149	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	D	1149;1149;1115;1115	ENSP00000442186:G1149D;ENSP00000367096:G1149D;ENSP00000401699:G1115D;ENSP00000332060:G1115D	ENSP00000332060:G1115D	G	-	2	0	PCDH9	65777056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.594000	0.67557	2.878000	0.98634	0.650000	0.86243	GGT	PCDH9	-	NULL		0.517	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	C	NM_203487		66879055	-1	no_errors	ENST00000377865	ensembl	human	known	70_37	missense	SNP	1.000	T
PELI2	57161	genome.wustl.edu	37	14	56746461	56746461	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr14:56746461A>G	ENST00000267460.4	+	3	561	c.275A>G	c.(274-276)gAg>gGg	p.E92G		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	92	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GTGGTGGTGGAGTACACACAT	0.299																																																	0													149.0	148.0	148.0					14																	56746461		2203	4300	6503	SO:0001583	missense	57161			AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.275A>G	14.37:g.56746461A>G	ENSP00000267460:p.Glu92Gly		B2RDY5	Missense_Mutation	SNP	pfam_Pellino	p.E92G	ENST00000267460.4	37	c.275	CCDS9726.1	14	.	.	.	.	.	.	.	.	.	.	A	18.17	3.564916	0.65651	.	.	ENSG00000139946	ENST00000267460	T	0.53857	0.6	4.84	4.84	0.62591	.	0.154856	0.56097	D	0.000026	T	0.68430	0.3000	M	0.69248	2.105	0.80722	D	1	D	0.59767	0.986	D	0.64144	0.922	T	0.72843	-0.4170	10	0.87932	D	0	-33.3448	14.8878	0.70584	1.0:0.0:0.0:0.0	.	92	Q9HAT8	PELI2_HUMAN	G	92	ENSP00000267460:E92G	ENSP00000267460:E92G	E	+	2	0	PELI2	55816214	1.000000	0.71417	0.905000	0.35620	0.908000	0.53690	9.087000	0.94110	2.159000	0.67721	0.455000	0.32223	GAG	PELI2	-	pfam_Pellino		0.299	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELI2	HGNC	protein_coding	OTTHUMT00000276925.1	A			56746461	+1	no_errors	ENST00000267460	ensembl	human	known	70_37	missense	SNP	1.000	G
PELO	53918	genome.wustl.edu	37	5	52096723	52096723	+	Silent	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr5:52096723G>A	ENST00000274311.2	+	2	1480	c.495G>A	c.(493-495)gtG>gtA	p.V165V	PELO_ENST00000506949.1_Intron|ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	165					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.V165V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				AGGTGGAGGTGAACATCCCTA	0.577																																																	1	Substitution - coding silent(1)	large_intestine(1)											92.0	80.0	84.0					5																	52096723		2203	4300	6503	SO:0001819	synonymous_variant	53918				CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"""pelota (Drosophila) homolog"""			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.495G>A	5.37:g.52096723G>A			Q9GZS6|Q9Y306	Silent	SNP	pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like	p.V165	ENST00000274311.2	37	c.495	CCDS3956.1	5																																																																																			PELO	-	pfam_eRF1_2,tigrfam_Transl_rel_pelota-like		0.577	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELO	HGNC	protein_coding	OTTHUMT00000214040.1	G	NM_015946		52096723	+1	no_errors	ENST00000274311	ensembl	human	known	70_37	silent	SNP	1.000	A
PHF12	57649	genome.wustl.edu	37	17	27254014	27254014	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr17:27254014G>C	ENST00000332830.4	-	3	1126	c.316C>G	c.(316-318)Cga>Gga	p.R106G	PHF12_ENST00000268756.3_Missense_Mutation_p.R106G|PHF12_ENST00000582655.1_5'Flank|RP11-20B24.5_ENST00000580782.1_RNA|RP11-20B24.5_ENST00000592890.1_RNA|RP11-20B24.5_ENST00000582631.1_RNA|PHF12_ENST00000577226.1_Missense_Mutation_p.R106G	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			ATTACCTTTCGGCGAACAGTG	0.493																																																	0													124.0	106.0	112.0					17																	27254014		2203	4300	6503	SO:0001583	missense	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.316C>G	17.37:g.27254014G>C	ENSP00000329933:p.Arg106Gly			Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.R106G	ENST00000332830.4	37	c.316	CCDS32598.1	17	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340441	0.81911	.	.	ENSG00000109118	ENST00000332830;ENST00000268756	D;D	0.87491	-2.26;-2.26	5.69	4.68	0.58851	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.057822	0.64402	D	0.000003	D	0.88119	0.6351	L	0.44542	1.39	0.45541	D	0.998491	D;D;D;D;D	0.60575	0.986;0.986;0.988;0.966;0.975	P;P;P;P;P	0.57911	0.582;0.762;0.829;0.462;0.762	D	0.86736	0.1951	10	0.40728	T	0.16	-0.4751	12.6609	0.56813	0.0:0.0:0.7064:0.2936	.	88;106;106;106;106	B4DFE2;A8K5V5;Q96QT6-2;Q2TAK2;Q96QT6	.;.;.;.;PHF12_HUMAN	G	106	ENSP00000329933:R106G;ENSP00000268756:R106G	ENSP00000268756:R106G	R	-	1	2	PHF12	24278140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.205000	0.58466	2.677000	0.91161	0.655000	0.94253	CGA	PHF12	-	superfamily_Znf_FYVE_PHD		0.493	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	G	NM_020889		27254014	-1	no_errors	ENST00000332830	ensembl	human	known	70_37	missense	SNP	1.000	C
PID1	55022	genome.wustl.edu	37	2	230020601	230020601	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr2:230020601T>G	ENST00000354069.6	-	2	239	c.209A>C	c.(208-210)gAg>gCg	p.E70A	PID1_ENST00000392055.3_Missense_Mutation_p.E37A|PID1_ENST00000409462.1_Intron|PID1_ENST00000482518.2_5'UTR|PID1_ENST00000392054.3_Missense_Mutation_p.E68A			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	70					cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GGCCTCCGGCTCATGGAAGAT	0.507																																																	0													115.0	110.0	112.0					2																	230020601		2203	4300	6503	SO:0001583	missense	55022			AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.209A>C	2.37:g.230020601T>G	ENSP00000283937:p.Glu70Ala		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.E70A	ENST00000354069.6	37	c.209		2	.	.	.	.	.	.	.	.	.	.	T	15.39	2.818492	0.50633	.	.	ENSG00000153823	ENST00000392054;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.74	5.74	0.90152	.	0.125811	0.51477	D	0.000082	T	0.65144	0.2663	L	0.29908	0.895	0.58432	D	0.999996	D;D;D	0.71674	0.996;0.998;0.997	D;D;D	0.81914	0.981;0.995;0.98	T	0.63060	-0.6721	8	.	.	.	-36.9367	15.5232	0.75881	0.0:0.0:0.0:1.0	.	37;68;70	Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;PCLI1_HUMAN	A	68;37;70;70	.	.	E	-	2	0	PID1	229728845	1.000000	0.71417	0.985000	0.45067	0.559000	0.35586	7.560000	0.82277	2.317000	0.78254	0.460000	0.39030	GAG	PID1	-	NULL		0.507	PID1-005	KNOWN	basic	protein_coding	PID1	HGNC	protein_coding	OTTHUMT00000331810.2	T	NM_017933		230020601	-1	no_errors	ENST00000354069	ensembl	human	known	70_37	missense	SNP	1.000	G
PLXNA2	5362	genome.wustl.edu	37	1	208201416	208201416	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:208201416C>A	ENST00000367033.3	-	31	6284	c.5527G>T	c.(5527-5529)Gag>Tag	p.E1843*	PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1843					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ATGTTGAACTCCACGGCGTGC	0.567																																																	0													152.0	138.0	143.0					1																	208201416		2203	4300	6503	SO:0001587	stop_gained	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.5527G>T	1.37:g.208201416C>A	ENSP00000356000:p.Glu1843*		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Nonsense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E1843*	ENST00000367033.3	37	c.5527	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	52	18.747641	0.99910	.	.	ENSG00000076356	ENST00000367033	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4314	0.94768	0.0:1.0:0.0:0.0	.	.	.	.	X	1843	.	ENSP00000356000:E1843X	E	-	1	0	PLXNA2	206268039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.715000	0.61909	2.588000	0.87417	0.650000	0.86243	GAG	PLXNA2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.567	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	C	NM_025179		208201416	-1	no_errors	ENST00000367033	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PNPLA1	285848	genome.wustl.edu	37	6	36269960	36269960	+	Silent	SNP	A	A	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr6:36269960A>T	ENST00000394571.2	+	6	1098	c.1098A>T	c.(1096-1098)ctA>ctT	p.L366L	PNPLA1_ENST00000312917.5_Silent_p.L280L|PNPLA1_ENST00000388715.3_Silent_p.L271L	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	366	Pro-rich.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CACTTTCTCTAAGTGGCATGC	0.552											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													135.0	128.0	130.0					6																	36269960		2203	4300	6503	SO:0001819	synonymous_variant	285848				CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.1098A>T	6.37:g.36269960A>T		861	A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Silent	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.L367	ENST00000394571.2	37	c.1101	CCDS54997.1	6																																																																																			PNPLA1	-	NULL		0.552	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA1	HGNC	protein_coding		A	NM_173676		36269960	+1	no_errors	ENST00000457797	ensembl	human	known	70_37	silent	SNP	0.005	T
PNLDC1	154197	genome.wustl.edu	37	6	160229830	160229830	+	Silent	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr6:160229830G>A	ENST00000610273.1	+	8	759	c.588G>A	c.(586-588)acG>acA	p.T196T	PNLDC1_ENST00000392167.3_Silent_p.T207T	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	196						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ACATCTGGACGGTGCTGAAAG	0.562																																																	0													75.0	68.0	70.0					6																	160229830		2203	4300	6503	SO:0001819	synonymous_variant	154197			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.588G>A	6.37:g.160229830G>A			Q5TAP7|Q8N7X5	Silent	SNP	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.T196	ENST00000610273.1	37	c.588	CCDS5271.1	6																																																																																			PNLDC1	-	pfam_RNase_CAF1,superfamily_RNaseH-like_dom		0.562	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	PNLDC1	HGNC	protein_coding		G	NM_173516		160229830	+1	no_errors	ENST00000275275	ensembl	human	known	70_37	silent	SNP	0.000	A
POLR2A	5430	genome.wustl.edu	37	17	7416456	7416456	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr17:7416456A>G	ENST00000322644.6	+	29	5272	c.4873A>G	c.(4873-4875)Acc>Gcc	p.T1625A		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1625	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CTACTCCCCTACCTCTCCATC	0.587																																																	0													281.0	282.0	282.0					17																	7416456		2203	4300	6503	SO:0001583	missense	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.4873A>G	17.37:g.7416456A>G	ENSP00000314949:p.Thr1625Ala		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.T1625A	ENST00000322644.6	37	c.4873	CCDS32548.1	17	.	.	.	.	.	.	.	.	.	.	A	10.89	1.478841	0.26511	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.72394	-0.65	3.71	3.71	0.42584	.	0.854734	0.09714	N	0.765263	T	0.73102	0.3544	L	0.52759	1.655	0.80722	D	1	P	0.38767	0.646	P	0.46659	0.523	T	0.71041	-0.4707	10	0.66056	D	0.02	-14.9856	11.8319	0.52301	1.0:0.0:0.0:0.0	.	1625	P24928	RPB1_HUMAN	A	1581;524;1625	ENSP00000314949:T1625A	ENSP00000314949:T1625A	T	+	1	0	SLC35G6	7357180	1.000000	0.71417	0.051000	0.19133	0.537000	0.34900	7.695000	0.84257	1.682000	0.51000	0.374000	0.22700	ACC	POLR2A	-	pfam_RNA_pol_II_repeat_euk		0.587	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	A	NM_000937		7416456	+1	no_errors	ENST00000322644	ensembl	human	known	70_37	missense	SNP	0.927	G
PNPO	55163	genome.wustl.edu	37	17	46019090	46019090	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr17:46019090G>A	ENST00000225573.4	+	1	154	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AC003665.1_ENST00000433001.1_RNA|PNPO_ENST00000434554.2_Missense_Mutation_p.E17K|PNPO_ENST00000544840.1_Missense_Mutation_p.E17K|PNPO_ENST00000534893.1_5'UTR|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	17					pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	FMN binding (GO:0010181)|pyridoxamine-phosphate oxidase activity (GO:0004733)			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						GCGACCTGCCGAGTGGCCAGG	0.706																																																	0													16.0	14.0	15.0					17																	46019090		2138	4193	6331	SO:0001583	missense	55163			AF468030	CCDS11522.1	17q21.32	2008-11-27	2006-07-12			ENSG00000108439	1.4.3.5		30260	protein-coding gene	gene with protein product		603287	"""pyridoxine 5'-phosphate oxidase"""			9601034, 15182361	Standard	NM_018129		Approved	PDXPO	uc002imo.3	Q9NVS9		ENST00000225573.4:c.49G>A	17.37:g.46019090G>A	ENSP00000225573:p.Glu17Lys		B4E0V0|B4E152|B4E1D7|D3DTT9	Missense_Mutation	SNP	pfam_Pyridox_Oxase_FMN-bd,pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd-related,tigrfam_Pyridox_Oxase	p.E17K	ENST00000225573.4	37	c.49	CCDS11522.1	17	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944323	0.53079	.	.	ENSG00000108439	ENST00000225573;ENST00000434554;ENST00000544840	T;T;T	0.72725	-0.68;-0.68;-0.68	4.98	0.128	0.14733	.	1.386070	0.04308	N	0.348487	T	0.44623	0.1302	N	0.08118	0	0.20196	N	0.999926	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38520	-0.9657	10	0.02654	T	1	-19.0041	5.4966	0.16805	0.1458:0.3241:0.5301:0.0	.	17;17;17	B4E152;B4E1D7;Q9NVS9	.;.;PNPO_HUMAN	K	17	ENSP00000225573:E17K;ENSP00000399960:E17K;ENSP00000446182:E17K	ENSP00000225573:E17K	E	+	1	0	PNPO	43374089	0.007000	0.16637	0.002000	0.10522	0.695000	0.40330	0.322000	0.19576	-0.078000	0.12730	-0.300000	0.09419	GAG	PNPO	-	NULL		0.706	PNPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPO	HGNC	protein_coding	OTTHUMT00000441407.1	G	NM_018129		46019090	+1	no_errors	ENST00000225573	ensembl	human	known	70_37	missense	SNP	0.000	A
POLR3F	10621	genome.wustl.edu	37	20	18448223	18448223	+	Intron	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr20:18448223G>A	ENST00000377603.4	+	1	442				DZANK1_ENST00000329494.5_5'Flank|DZANK1_ENST00000262547.5_5'Flank|POLR3F_ENST00000462997.1_3'UTR|DZANK1_ENST00000358866.6_5'Flank|DZANK1_ENST00000357236.4_5'Flank	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa						defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)	2						GTAAACCAGTGAGGCTCCGGC	0.637																																					GBM(69;898 1468 19907 52011)												0													40.0	41.0	41.0					20																	18448223		2203	4300	6503	SO:0001627	intron_variant	10621			U93869	CCDS13135.1	20p11.23	2013-01-21	2002-08-29		ENSG00000132664	ENSG00000132664		"""RNA polymerase subunits"""	15763	protein-coding gene	gene with protein product	"""RNA polymerase III C39 subunit"""		"""polymerase (RNA) III (DNA directed) polypeptide F (39 kDa)"""			9171375	Standard	NM_006466		Approved	RPC39, RPC6	uc002wqv.3	Q9H1D9	OTTHUMG00000031971	ENST00000377603.4:c.62+11G>A	20.37:g.18448223G>A			A8K4C7|O15319	RNA	SNP	-	NULL	ENST00000377603.4	37	NULL	CCDS13135.1	20																																																																																			POLR3F	-	-		0.637	POLR3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3F	HGNC	protein_coding	OTTHUMT00000078170.2	G	NM_006466		18448223	+1	no_errors	ENST00000462997	ensembl	human	known	70_37	rna	SNP	0.000	A
POSTN	10631	genome.wustl.edu	37	13	38145528	38145528	+	Silent	SNP	T	T	C			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr13:38145528T>C	ENST00000379747.4	-	18	2274	c.2157A>G	c.(2155-2157)acA>acG	p.T719T	POSTN_ENST00000379749.4_Silent_p.T719T|POSTN_ENST00000379743.4_Silent_p.T692T|POSTN_ENST00000379742.4_Intron|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000541179.1_Silent_p.T692T|POSTN_ENST00000497145.1_5'UTR	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	719					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTTCAGTTATTGTTTCACCTT	0.378																																																	0													222.0	188.0	200.0					13																	38145528		2203	4299	6502	SO:0001819	synonymous_variant	10631			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2157A>G	13.37:g.38145528T>C			B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.T719	ENST00000379747.4	37	c.2157	CCDS9364.1	13																																																																																			POSTN	-	pirsf_TGFb-ind_bIGH3/osteoblast_fac2		0.378	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	T	NM_006475		38145528	-1	no_errors	ENST00000379747	ensembl	human	known	70_37	silent	SNP	0.002	C
PPP1R7	5510	genome.wustl.edu	37	2	242092929	242092929	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr2:242092929G>A	ENST00000234038.6	+	2	565	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	PPP1R7_ENST00000406106.3_Missense_Mutation_p.E31K|PPP1R7_ENST00000272983.8_Intron|PPP1R7_ENST00000401987.1_Intron|PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000404405.3_Missense_Mutation_p.E31K|PPP1R7_ENST00000407025.1_Missense_Mutation_p.E31K	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	31					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CGGCGATGAAGAAGGGAAGAA	0.537																																					NSCLC(62;446 1299 5417 11238 27640)												0													118.0	107.0	111.0					2																	242092929		2203	4300	6503	SO:0001583	missense	5510			AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.91G>A	2.37:g.242092929G>A	ENSP00000234038:p.Glu31Lys		B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C	p.E31K	ENST00000234038.6	37	c.91	CCDS2546.1	2	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554506	0.65425	.	.	ENSG00000115685	ENST00000438799;ENST00000407025;ENST00000234038;ENST00000404405;ENST00000439916;ENST00000406106;ENST00000427172	T;T;T;T;T;T;T	0.51574	0.81;0.7;0.7;0.91;1.05;1.13;1.23	4.61	4.61	0.57282	.	0.051691	0.85682	D	0.000000	T	0.35068	0.0919	N	0.08118	0	0.80722	D	1	B;B;B;B	0.32245	0.247;0.247;0.361;0.247	B;B;B;B	0.39738	0.163;0.114;0.308;0.163	T	0.36817	-0.9732	10	0.42905	T	0.14	-9.8066	15.6297	0.76893	0.0:0.0:1.0:0.0	.	15;31;31;31	C9JD73;Q15435;Q15435-3;B5MBZ8	.;PP1R7_HUMAN;.;.	K	15;31;31;31;31;31;40	ENSP00000396376:E15K;ENSP00000385657:E31K;ENSP00000234038:E31K;ENSP00000385498:E31K;ENSP00000409719:E31K;ENSP00000385022:E31K;ENSP00000397985:E40K	ENSP00000234038:E31K	E	+	1	0	PPP1R7	241741602	1.000000	0.71417	0.996000	0.52242	0.405000	0.30901	7.966000	0.87956	2.115000	0.64714	0.561000	0.74099	GAA	PPP1R7	-	NULL		0.537	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R7	HGNC	protein_coding	OTTHUMT00000257244.4	G	NM_002712		242092929	+1	no_errors	ENST00000234038	ensembl	human	known	70_37	missense	SNP	1.000	A
PRAMEF12	390999	genome.wustl.edu	37	1	12837347	12837347	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:12837347C>G	ENST00000357726.4	+	3	1084	c.1057C>G	c.(1057-1059)Ctg>Gtg	p.L353V		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	353					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCAGACCCTGGACTTAGA	0.587																																																	0													91.0	92.0	91.0					1																	12837347		2203	4300	6503	SO:0001583	missense	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1057C>G	1.37:g.12837347C>G	ENSP00000350358:p.Leu353Val			Missense_Mutation	SNP	NULL	p.L353V	ENST00000357726.4	37	c.1057	CCDS41254.1	1	.	.	.	.	.	.	.	.	.	.	.	14.51	2.558371	0.45590	.	.	ENSG00000116726	ENST00000357726	T	0.03889	3.77	2.82	2.82	0.32997	.	0.178441	0.36815	N	0.002395	T	0.25044	0.0608	M	0.91300	3.195	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.03514	-1.1029	10	0.66056	D	0.02	.	11.8162	0.52211	0.0:1.0:0.0:0.0	.	353	O95522	PRA12_HUMAN	V	353	ENSP00000350358:L353V	ENSP00000350358:L353V	L	+	1	2	PRAMEF12	12759934	0.095000	0.21747	0.008000	0.14137	0.179000	0.23085	1.284000	0.33249	1.879000	0.54435	0.195000	0.17529	CTG	PRAMEF12	-	NULL		0.587	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF12	HGNC	protein_coding	OTTHUMT00000005457.1	C	XM_372760		12837347	+1	no_errors	ENST00000357726	ensembl	human	known	70_37	missense	SNP	0.060	G
PRB4	5545	genome.wustl.edu	37	12	11461645	11461645	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr12:11461645C>A	ENST00000535904.1	-	3	305	c.272G>T	c.(271-273)gGt>gTt	p.G91V	PRB4_ENST00000445719.2_Missense_Mutation_p.G91V|PRB4_ENST00000279575.1_Missense_Mutation_p.G91V			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	112	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542). {ECO:0000305}.		extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						AGGTGGGGGACCTTGGGACTG	0.607										HNSCC(22;0.051)																																							0													315.0	338.0	330.0					12																	11461645		2203	4300	6503	SO:0001583	missense	5545				CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.272G>T	12.37:g.11461645C>A	ENSP00000442834:p.Gly91Val		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	NULL	p.G91V	ENST00000535904.1	37	c.272	CCDS8641.1	12	.	.	.	.	.	.	.	.	.	.	.	4.154	0.026926	0.08054	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.04119	3.7;3.7;3.97	0.687	-1.37	0.09056	.	.	.	.	.	T	0.05593	0.0147	M	0.72118	2.19	0.09310	N	1	B	0.27166	0.17	B	0.20384	0.029	T	0.33369	-0.9871	8	0.52906	T	0.07	.	.	.	.	.	91	E9PAL0	.	V	91	ENSP00000279575:G91V;ENSP00000442834:G91V;ENSP00000412740:G91V	ENSP00000279575:G91V	G	-	2	0	PRB4	11352912	0.001000	0.12720	0.000000	0.03702	0.015000	0.08874	-0.654000	0.05354	-1.108000	0.03000	0.205000	0.17691	GGT	PRB4	-	NULL		0.607	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB4	HGNC	protein_coding	OTTHUMT00000402308.1	C	NM_002723		11461645	-1	no_errors	ENST00000279575	ensembl	human	known	70_37	missense	SNP	0.000	A
PRDM14	63978	genome.wustl.edu	37	8	70964454	70964454	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr8:70964454G>C	ENST00000276594.2	-	8	1775	c.1574C>G	c.(1573-1575)tCt>tGt	p.S525C		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	525					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GGATGCAAAAGATTTACCACA	0.517																																					NSCLC(129;99 1813 5906 40656 46114)												0													160.0	149.0	153.0					8																	70964454		2203	4300	6503	SO:0001583	missense	63978			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1574C>G	8.37:g.70964454G>C	ENSP00000276594:p.Ser525Cys		Q86UX9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.S525C	ENST00000276594.2	37	c.1574	CCDS6206.1	8	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024658	0.54683	.	.	ENSG00000147596	ENST00000276594	T	0.19806	2.12	5.95	5.08	0.68730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.125057	0.52532	D	0.000077	T	0.23210	0.0561	L	0.43152	1.355	0.37337	D	0.910236	B	0.18461	0.028	B	0.19666	0.026	T	0.07046	-1.0793	10	0.66056	D	0.02	-10.3171	17.3411	0.87296	0.0:0.1249:0.8751:0.0	.	525	Q9GZV8	PRD14_HUMAN	C	525	ENSP00000276594:S525C	ENSP00000276594:S525C	S	-	2	0	PRDM14	71127008	1.000000	0.71417	0.443000	0.26883	0.953000	0.61014	6.247000	0.72411	1.515000	0.48885	0.563000	0.77884	TCT	PRDM14	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.517	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM14	HGNC	protein_coding	OTTHUMT00000318505.1	G			70964454	-1	no_errors	ENST00000276594	ensembl	human	known	70_37	missense	SNP	1.000	C
PSENEN	55851	genome.wustl.edu	37	19	36237663	36237663	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr19:36237663G>T	ENST00000587708.2	+	4	904	c.221G>T	c.(220-222)tGg>tTg	p.W74L	AC002398.9_ENST00000591613.2_Intron|PSENEN_ENST00000222266.2_Missense_Mutation_p.W74L|AD000671.6_ENST00000589807.1_5'Flank|PSENEN_ENST00000591949.1_3'UTR|U2AF1L4_ENST00000588100.1_5'Flank|AC002398.11_ENST00000591091.1_RNA|U2AF1L4_ENST00000292879.5_5'Flank|AC002398.11_ENST00000585365.1_RNA|U2AF1L4_ENST00000378975.3_5'Flank|U2AF1L4_ENST00000412391.2_5'Flank|LIN37_ENST00000301159.9_5'Flank			Q9NZ42	PEN2_HUMAN	presenilin enhancer gamma secretase subunit	74					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.W74*(1)		central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCACCTCCTGGATCACCATC	0.592																																																	1	Substitution - Nonsense(1)	central_nervous_system(1)											84.0	87.0	86.0					19																	36237663		2203	4300	6503	SO:0001583	missense	55851			AF220053	CCDS12474.1	19q13.12	2014-09-17	2013-09-12			ENSG00000205155			30100	protein-coding gene	gene with protein product		607632	"""presenilin enhancer 2 homolog (C. elegans)"""			12110170, 12660785	Standard	NM_172341		Approved	PEN2	uc002obi.1	Q9NZ42		ENST00000587708.2:c.221G>T	19.37:g.36237663G>T	ENSP00000468411:p.Trp74Leu		B2R5L9	Missense_Mutation	SNP	pfam_Gamma_Secretase_Asp_P_PEN2	p.W74L	ENST00000587708.2	37	c.221	CCDS12474.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.418642	0.96092	.	.	ENSG00000205155	ENST00000222266	D	0.86769	-2.17	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.95169	0.8434	M	0.91140	3.18	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95575	0.8641	10	0.87932	D	0	-19.9147	18.958	0.92668	0.0:0.0:1.0:0.0	.	74	Q9NZ42	PEN2_HUMAN	L	74	ENSP00000222266:W74L	ENSP00000222266:W74L	W	+	2	0	PSENEN	40929503	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.761000	0.91691	2.775000	0.95449	0.655000	0.94253	TGG	PSENEN	-	pfam_Gamma_Secretase_Asp_P_PEN2		0.592	PSENEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSENEN	HGNC	protein_coding	OTTHUMT00000459101.2	G	NM_172341		36237663	+1	no_errors	ENST00000222266	ensembl	human	known	70_37	missense	SNP	1.000	T
RB1	5925	genome.wustl.edu	37	13	48955382	48955382	+	Splice_Site	SNP	G	G	C			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr13:48955382G>C	ENST00000267163.4	+	17	1636		c.e17-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTCATTTTTAGGAAGTACATC	0.294		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	26	Whole gene deletion(15)|Unknown(11)	bone(13)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	GRCh37	CS011568|CS941539	RB1	S							24.0	24.0	24.0					13																	48955382		2200	4296	6496	SO:0001630	splice_region_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1499-1G>C	13.37:g.48955382G>C			A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	-	e17-1	ENST00000267163.4	37	c.1499-1	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793363	0.70452	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3532	0.60613	0.0761:0.0:0.9239:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47853383	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.424000	0.73366	2.488000	0.83962	0.650000	0.86243	.	RB1	-	-		0.294	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	G		Intron	48955382	+1	no_errors	ENST00000267163	ensembl	human	known	70_37	splice_site	SNP	1.000	C
RBPJL	11317	genome.wustl.edu	37	20	43945198	43945198	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr20:43945198G>A	ENST00000343694.3	+	11	1330	c.1258G>A	c.(1258-1260)Gtg>Atg	p.V420M	RBPJL_ENST00000372743.1_Missense_Mutation_p.V420M|RBPJL_ENST00000372741.3_Missense_Mutation_p.V420M|RBPJL_ENST00000464504.1_3'UTR	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	420	IPT/TIG.				positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GTTTGGGGACGTGGAGGCAGA	0.692																																																	0													52.0	52.0	52.0					20																	43945198		1948	3794	5742	SO:0001583	missense	11317			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1258G>A	20.37:g.43945198G>A	ENSP00000341243:p.Val420Met		O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set	p.V420M	ENST00000343694.3	37	c.1258	CCDS13349.1	20	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717948	0.48622	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	T;T;T	0.18960	2.18;2.18;2.18	4.54	4.54	0.55810	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.179203	0.37136	N	0.002233	T	0.22437	0.0541	L	0.52011	1.625	0.40049	D	0.975757	D;D	0.61080	0.989;0.978	B;B	0.40677	0.337;0.139	T	0.10776	-1.0615	10	0.59425	D	0.04	-23.9878	16.862	0.86021	0.0:0.0:1.0:0.0	.	420;420	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	M	420	ENSP00000361828:V420M;ENSP00000361826:V420M;ENSP00000341243:V420M	ENSP00000341243:V420M	V	+	1	0	RBPJL	43378612	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	3.822000	0.55708	2.510000	0.84645	0.549000	0.68633	GTG	RBPJL	-	superfamily_Ig_E-set		0.692	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBPJL	HGNC	protein_coding	OTTHUMT00000080391.1	G	NM_014276		43945198	+1	no_errors	ENST00000343694	ensembl	human	known	70_37	missense	SNP	0.995	A
RSPH4A	345895	genome.wustl.edu	37	6	116953401	116953401	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr6:116953401C>T	ENST00000229554.5	+	6	2085	c.1948C>T	c.(1948-1950)Cat>Tat	p.H650Y	RSPH4A_ENST00000368580.4_Missense_Mutation_p.H403Y|RSPH4A_ENST00000368581.4_3'UTR	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	650					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGGCTGGGGTCATAAGTATAG	0.353									Kartagener syndrome																																								0													42.0	41.0	42.0					6																	116953401		2203	4300	6503	SO:0001583	missense	345895	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1948C>T	6.37:g.116953401C>T	ENSP00000229554:p.His650Tyr		B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	pfam_Radial_spoke	p.H650Y	ENST00000229554.5	37	c.1948	CCDS34521.1	6	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446892	0.63178	.	.	ENSG00000111834	ENST00000229554;ENST00000447842;ENST00000368580	T;T	0.18016	2.24;2.24	5.99	4.22	0.49857	.	0.240515	0.41605	D	0.000846	T	0.14313	0.0346	M	0.76574	2.34	0.80722	D	1	D	0.61080	0.989	P	0.58172	0.834	T	0.40040	-0.9584	10	0.02654	T	1	-6.9219	9.3212	0.37966	0.145:0.78:0.0:0.0751	.	650	Q5TD94	RSH4A_HUMAN	Y	650;445;403	ENSP00000229554:H650Y;ENSP00000357569:H403Y	ENSP00000229554:H650Y	H	+	1	0	RSPH4A	117060094	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.283000	0.51701	0.866000	0.35629	-0.169000	0.13324	CAT	RSPH4A	-	pfam_Radial_spoke		0.353	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH4A	HGNC	protein_coding	OTTHUMT00000041960.1	C	NM_001010892		116953401	+1	no_errors	ENST00000229554	ensembl	human	known	70_37	missense	SNP	1.000	T
RSPO2	340419	genome.wustl.edu	37	8	109094785	109094785	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr8:109094785G>A	ENST00000276659.5	-	2	702	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	RSPO2_ENST00000517939.1_5'Flank|RSPO2_ENST00000378439.2_Missense_Mutation_p.R28C|RSPO2_ENST00000517781.1_Missense_Mutation_p.R28C	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	28					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.R28C(3)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CGCTTACTGCGTCTCCATCGG	0.627																																																	3	Substitution - Missense(3)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)											111.0	95.0	100.0					8																	109094785		2203	4300	6503	SO:0001583	missense	340419			AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.82C>T	8.37:g.109094785G>A	ENSP00000276659:p.Arg28Cys		B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	superfamily_Growth_fac_rcpt,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.R28C	ENST00000276659.5	37	c.82	CCDS6307.1	8	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468646	0.63625	.	.	ENSG00000147655	ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521956;ENST00000522333	T;T;T;T;T	0.79247	1.55;1.55;-1.25;-1.25;-1.25	5.57	5.57	0.84162	Growth factor, receptor (1);	0.333064	0.26586	N	0.023556	D	0.86752	0.6008	L	0.60455	1.87	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.87128	0.2195	10	0.66056	D	0.02	-9.5123	19.1489	0.93479	0.0:0.0:1.0:0.0	.	28;28	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	C	28	ENSP00000427937:R28C;ENSP00000367698:R28C;ENSP00000276659:R28C;ENSP00000430010:R28C;ENSP00000430973:R28C	ENSP00000276659:R28C	R	-	1	0	RSPO2	109163961	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.099000	0.71466	2.622000	0.88805	0.591000	0.81541	CGC	RSPO2	-	superfamily_Growth_fac_rcpt		0.627	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPO2	HGNC	protein_coding	OTTHUMT00000380830.1	G	NM_178565		109094785	-1	no_errors	ENST00000276659	ensembl	human	known	70_37	missense	SNP	1.000	A
RYR3	6263	genome.wustl.edu	37	15	34130203	34130203	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr15:34130203G>A	ENST00000389232.4	+	89	12092	c.12022G>A	c.(12022-12024)Gat>Aat	p.D4008N	RYR3_ENST00000415757.3_Missense_Mutation_p.D4003N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4008					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATGCCAAACGATTCCCGCCT	0.463																																																	0													120.0	119.0	120.0					15																	34130203		1949	4151	6100	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12022G>A	15.37:g.34130203G>A	ENSP00000373884:p.Asp4008Asn		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.D4008N	ENST00000389232.4	37	c.12022	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256738	0.80246	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.97888	-4.59	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.98548	0.9515	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	D	0.98638	1.0674	10	0.42905	T	0.14	.	18.7376	0.91761	0.0:0.0:1.0:0.0	.	4003;4008	Q15413-2;Q15413	.;RYR3_HUMAN	N	4008;4004	ENSP00000373884:D4008N	ENSP00000354735:D4004N	D	+	1	0	RYR3	31917495	1.000000	0.71417	0.995000	0.50966	0.881000	0.50899	9.530000	0.98051	2.650000	0.89964	0.551000	0.68910	GAT	RYR3	-	superfamily_ARM-type_fold		0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	G			34130203	+1	no_errors	ENST00000389232	ensembl	human	known	70_37	missense	SNP	1.000	A
SH3KBP1	30011	genome.wustl.edu	37	X	19568181	19568181	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chrX:19568181C>T	ENST00000397821.3	-	14	1695	c.1405G>A	c.(1405-1407)Gtg>Atg	p.V469M	SH3KBP1_ENST00000541422.1_Missense_Mutation_p.V208M|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.V231M|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.V432M	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	469					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GATGATACCACGGAGTCAAAA	0.443																																																	0													141.0	122.0	128.0					X																	19568181		2203	4300	6503	SO:0001583	missense	30011			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1405G>A	X.37:g.19568181C>T	ENSP00000380921:p.Val469Met		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.V469M	ENST00000397821.3	37	c.1405	CCDS14193.1	X	.	.	.	.	.	.	.	.	.	.	C	16.35	3.100008	0.56183	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379716;ENST00000379698;ENST00000541422;ENST00000379726	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	5.26	5.26	0.73747	.	0.136830	0.50627	D	0.000114	T	0.33352	0.0860	L	0.54323	1.7	0.58432	D	0.999998	B;B;B	0.25521	0.03;0.011;0.128	B;B;B	0.18561	0.008;0.006;0.022	T	0.15065	-1.0450	10	0.87932	D	0	-9.3549	18.0381	0.89311	0.0:1.0:0.0:0.0	.	231;469;432	Q5JPT4;Q96B97;Q5JPT5	.;SH3K1_HUMAN;.	M	454;469;231;432;208;449	ENSP00000380921:V469M;ENSP00000369039:V231M;ENSP00000369020:V432M;ENSP00000442499:V208M;ENSP00000369049:V449M	ENSP00000369020:V432M	V	-	1	0	SH3KBP1	19478102	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.505000	0.53356	2.193000	0.70182	0.600000	0.82982	GTG	SH3KBP1	-	NULL		0.443	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	C	NM_031892		19568181	-1	no_errors	ENST00000397821	ensembl	human	known	70_37	missense	SNP	1.000	T
SIPA1	6494	genome.wustl.edu	37	11	65409844	65409844	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr11:65409844C>T	ENST00000394224.3	+	3	1099	c.803C>T	c.(802-804)aCg>aTg	p.T268M	SIPA1_ENST00000534313.1_Missense_Mutation_p.T268M|SIPA1_ENST00000394227.3_Missense_Mutation_p.T268M|SIPA1_ENST00000527525.1_Missense_Mutation_p.T268M	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	268					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GTGCGGACCACGCAGGTGGGC	0.682																																																	0													23.0	24.0	24.0					11																	65409844		2193	4294	6487	SO:0001583	missense	6494			AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.803C>T	11.37:g.65409844C>T	ENSP00000377771:p.Thr268Met		O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.T268M	ENST00000394224.3	37	c.803	CCDS8108.1	11	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636423	0.67130	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.82711	-1.64;-1.63;-1.64;-1.63	4.66	4.66	0.58398	.	0.095949	0.38111	U	0.001812	D	0.85035	0.5605	L	0.38175	1.15	0.38426	D	0.946308	D;D	0.76494	0.999;0.998	P;P	0.62382	0.901;0.799	D	0.87674	0.2543	10	0.87932	D	0	-16.1066	13.4211	0.60998	0.0:1.0:0.0:0.0	.	268;268	F6RY50;Q96FS4	.;SIPA1_HUMAN	M	268	ENSP00000436269:T268M;ENSP00000433686:T268M;ENSP00000377771:T268M;ENSP00000377774:T268M	ENSP00000377771:T268M	T	+	2	0	SIPA1	65166420	0.950000	0.32346	1.000000	0.80357	0.836000	0.47400	1.644000	0.37228	2.328000	0.79073	0.455000	0.32223	ACG	SIPA1	-	NULL		0.682	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIPA1	HGNC	protein_coding	OTTHUMT00000390356.1	C	NM_006747		65409844	+1	no_errors	ENST00000394224	ensembl	human	known	70_37	missense	SNP	0.855	T
SLC25A42	284439	genome.wustl.edu	37	19	19206970	19206970	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr19:19206970C>A	ENST00000318596.7	+	2	188	c.37C>A	c.(37-39)Cat>Aat	p.H13N		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	13					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GGTGCGATTGCATGAGGATGC	0.622																																																	0													205.0	163.0	177.0					19																	19206970		2203	4300	6503	SO:0001583	missense	284439				CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.37C>A	19.37:g.19206970C>A	ENSP00000326693:p.His13Asn		D2T2J5|O14553|O43378	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.H13N	ENST00000318596.7	37	c.37	CCDS32966.1	19	.	.	.	.	.	.	.	.	.	.	C	1.191	-0.635297	0.03584	.	.	ENSG00000181035	ENST00000318596	T	0.78595	-1.19	3.72	1.32	0.21799	.	1.629490	0.03327	N	0.192776	T	0.52741	0.1753	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48547	-0.9026	10	0.17369	T	0.5	0.0421	5.9651	0.19320	0.3297:0.4924:0.1779:0.0	.	65;13	B7Z8R5;Q86VD7	.;S2542_HUMAN	N	13	ENSP00000326693:H13N	ENSP00000326693:H13N	H	+	1	0	SLC25A42	19067970	0.201000	0.23410	0.286000	0.24833	0.264000	0.26372	0.464000	0.21988	0.901000	0.36495	0.462000	0.41574	CAT	SLC25A42	-	NULL		0.622	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A42	HGNC	protein_coding	OTTHUMT00000465931.1	C	NM_178526		19206970	+1	no_errors	ENST00000318596	ensembl	human	known	70_37	missense	SNP	0.033	A
STRA6	64220	genome.wustl.edu	37	15	74487663	74487663	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr15:74487663C>T	ENST00000323940.5	-	7	822	c.577G>A	c.(577-579)Gag>Aag	p.E193K	STRA6_ENST00000535552.1_Missense_Mutation_p.E230K|STRA6_ENST00000416286.3_Missense_Mutation_p.E185K|STRA6_ENST00000423167.2_Missense_Mutation_p.E184K|STRA6_ENST00000563965.1_Missense_Mutation_p.E232K|STRA6_ENST00000574278.1_Missense_Mutation_p.E208K|STRA6_ENST00000395105.4_Missense_Mutation_p.E193K|STRA6_ENST00000449139.2_Missense_Mutation_p.E193K|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000432245.2_3'UTR	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	193					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TGGGGACACTCTGCCCTCTGC	0.642																																																	0													34.0	35.0	34.0					15																	74487663		2198	4297	6495	SO:0001583	missense	64220			AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.577G>A	15.37:g.74487663C>T	ENSP00000326085:p.Glu193Lys		A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	NULL	p.E232K	ENST00000323940.5	37	c.694	CCDS10261.1	15	.	.	.	.	.	.	.	.	.	.	C	36	5.680758	0.96774	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.47	5.47	0.80525	.	0.100005	0.64402	D	0.000002	D	0.88702	0.6508	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.997;0.997;0.997;0.997	D;D;D;D;D	0.68353	0.957;0.957;0.957;0.957;0.957	D	0.89293	0.3620	10	0.62326	D	0.03	-31.5497	17.0915	0.86623	0.0:1.0:0.0:0.0	.	230;231;184;193;232	F5GYI8;B7Z5G7;Q9BX79-3;Q9BX79;Q9BX79-4	.;.;.;STRA6_HUMAN;.	K	193;193;125;232;184;230;83	ENSP00000378537:E193K;ENSP00000326085:E193K;ENSP00000413012:E184K;ENSP00000440238:E230K	ENSP00000326085:E193K	E	-	1	0	STRA6	72274716	1.000000	0.71417	0.974000	0.42286	0.977000	0.68977	6.526000	0.73799	2.575000	0.86900	0.563000	0.77884	GAG	STRA6	-	NULL		0.642	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STRA6	HGNC	protein_coding	OTTHUMT00000272891.1	C			74487663	-1	no_errors	ENST00000563965	ensembl	human	known	70_37	missense	SNP	1.000	T
SV2C	22987	genome.wustl.edu	37	5	75581009	75581009	+	Silent	SNP	G	G	A	rs200052408		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr5:75581009G>A	ENST00000502798.2	+	5	1378	c.936G>A	c.(934-936)tcG>tcA	p.S312S	SV2C_ENST00000322285.7_Silent_p.S312S|RP11-466P24.6_ENST00000502589.1_RNA	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	312					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GCATGGGATCGGCCTACCAGT	0.587																																																	0													233.0	236.0	235.0					5																	75581009		2131	4254	6385	SO:0001819	synonymous_variant	22987			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.936G>A	5.37:g.75581009G>A			Q496K1|Q9UPU8	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	p.S312	ENST00000502798.2	37	c.936	CCDS43331.1	5																																																																																			SV2C	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata		0.587	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2C	HGNC	protein_coding	OTTHUMT00000368700.4	G			75581009	+1	no_errors	ENST00000502798	ensembl	human	known	70_37	silent	SNP	0.181	A
SYT7	9066	genome.wustl.edu	37	11	61291299	61291299	+	Splice_Site	SNP	C	C	A	rs567302490		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr11:61291299C>A	ENST00000263846.4	-	7	1234	c.907G>T	c.(907-909)Gac>Tac	p.D303Y	SYT7_ENST00000540677.1_Splice_Site_p.D378Y|SYT7_ENST00000539008.1_Splice_Site_p.D586Y|SYT7_ENST00000542670.1_Splice_Site_p.D511Y|SYT7_ENST00000535826.1_Splice_Site_p.D422Y|SYT7_ENST00000542836.1_Splice_Site_p.D347Y|SYT7_ENST00000540831.1_5'Flank	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	303	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGCCCCGTACCTGATGTGCCC	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17118	0.0		0.0	False		,,,				2504	0.0																0													264.0	253.0	257.0					11																	61291299		2202	4299	6501	SO:0001630	splice_region_variant	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.907+1G>T	11.37:g.61291299C>A			F5GZU9|Q08AH6	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.D303Y	ENST00000263846.4	37	c.907	CCDS31577.1	11	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355550	0.82243	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	4.48	4.48	0.54585	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.93729	0.7996	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96390	0.9288	9	.	.	.	.	17.5306	0.87813	0.0:1.0:0.0:0.0	.	378;303	F5GZU9;O43581	.;SYT7_HUMAN	Y	303;378;586;347;511;422	ENSP00000263846:D303Y;ENSP00000444201:D378Y;ENSP00000439694:D586Y;ENSP00000444568:D347Y;ENSP00000444019:D511Y;ENSP00000437720:D422Y	.	D	-	1	0	SYT7	61047875	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.760000	0.85248	2.192000	0.70111	0.462000	0.41574	GAC	SYT7	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.592	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT7	HGNC	protein_coding	OTTHUMT00000398733.1	C	NM_004200	Missense_Mutation	61291299	-1	no_errors	ENST00000263846	ensembl	human	known	70_37	missense	SNP	1.000	A
TARS2	80222	genome.wustl.edu	37	1	150477120	150477120	+	Silent	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:150477120C>T	ENST00000369064.3	+	15	1765	c.1731C>T	c.(1729-1731)gcC>gcT	p.A577A	TARS2_ENST00000369054.2_Silent_p.A447A|TARS2_ENST00000606933.1_Silent_p.A495A	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	577					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|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;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	AGGCGGGTGCCCTGGAGCGTC	0.527																																																	0													112.0	118.0	116.0					1																	150477120		2203	4300	6503	SO:0001819	synonymous_variant	80222			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1731C>T	1.37:g.150477120C>T			Q53GW7|Q96I50|Q9H9V2	Silent	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.A577	ENST00000369064.3	37	c.1731	CCDS952.1	1																																																																																			TARS2	-	pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa		0.527	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	C	NM_025150		150477120	+1	no_errors	ENST00000369064	ensembl	human	known	70_37	silent	SNP	0.993	T
TENM2	57451	genome.wustl.edu	37	5	167589659	167589659	+	Silent	SNP	G	G	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr5:167589659G>T	ENST00000518659.1	+	13	2505	c.2466G>T	c.(2464-2466)ctG>ctT	p.L822L	TENM2_ENST00000545108.1_Silent_p.L822L|TENM2_ENST00000520394.1_Silent_p.L590L|TENM2_ENST00000519204.1_Silent_p.L701L|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Silent_p.L646L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	822	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GATGCACACTGGGTCAGAACA	0.577																																																	0													72.0	71.0	71.0					5																	167589659		2065	4207	6272	SO:0001819	synonymous_variant	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2466G>T	5.37:g.167589659G>T			Q9ULU2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.L822	ENST00000518659.1	37	c.2466		5																																																																																			TENM2	-	smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.577	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	G	NM_001122679		167589659	+1	no_errors	ENST00000518659	ensembl	human	known	70_37	silent	SNP	1.000	T
TEX15	56154	genome.wustl.edu	37	8	30695415	30695415	+	Silent	SNP	C	C	T	rs371955113		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr8:30695415C>T	ENST00000256246.2	-	3	7310	c.7236G>A	c.(7234-7236)tcG>tcA	p.S2412S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2412					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTTGCTTTCCGACTTTGATG	0.373																																																	0								C		0,4406		0,0,2203	227.0	226.0	226.0		7236	1.0	0.0	8		226	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TEX15	NM_031271.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2412/2790	30695415	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7236G>A	8.37:g.30695415C>T				Silent	SNP	NULL	p.S2412	ENST00000256246.2	37	c.7236	CCDS6080.1	8																																																																																			TEX15	-	NULL		0.373	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30695415	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	silent	SNP	0.015	T
TGDS	23483	genome.wustl.edu	37	13	95248442	95248442	+	5'UTR	SNP	A	A	G			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr13:95248442A>G	ENST00000261296.5	-	0	69				TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase						nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TGAAAAGCGCAGGGAAGTTCC	0.617																																																	0													28.0	25.0	26.0					13																	95248442		1327	2308	3635	SO:0001623	5_prime_UTR_variant	23483			AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	20324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 2E, member 1"""					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.-52T>C	13.37:g.95248442A>G			Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	RNA	SNP	-	NULL	ENST00000261296.5	37	NULL	CCDS9471.1	13																																																																																			TGDS	-	-		0.617	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGDS	HGNC	protein_coding	OTTHUMT00000106904.2	A	NM_014305		95248442	-1	no_errors	ENST00000498294	ensembl	human	known	70_37	rna	SNP	0.000	G
TRPV4	59341	genome.wustl.edu	37	12	110238497	110238497	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr12:110238497T>C	ENST00000418703.2	-	4	873	c.779A>G	c.(778-780)cAg>cGg	p.Q260R	TRPV4_ENST00000261740.2_Missense_Mutation_p.Q260R|TRPV4_ENST00000537083.1_Missense_Mutation_p.Q260R|TRPV4_ENST00000536838.1_Missense_Mutation_p.Q226R|TRPV4_ENST00000346520.2_Missense_Mutation_p.Q260R|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000541794.1_Intron|TRPV4_ENST00000392719.2_Intron	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	260					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						ATCAGCTCCCTGGGCCACGAG	0.642																																																	0													82.0	65.0	71.0					12																	110238497		2203	4300	6503	SO:0001583	missense	59341			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.779A>G	12.37:g.110238497T>C	ENSP00000406191:p.Gln260Arg		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel	p.Q260R	ENST00000418703.2	37	c.779	CCDS9134.1	12	.	.	.	.	.	.	.	.	.	.	T	11.61	1.689060	0.29962	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000346520;ENST00000537083;ENST00000536838	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	4.92	3.68	0.42216	Ankyrin repeat-containing domain (3);	0.288824	0.36893	N	0.002360	T	0.31136	0.0787	N	0.01771	-0.73	0.25367	N	0.988739	B;B;B	0.34399	0.452;0.061;0.017	B;B;B	0.29862	0.108;0.062;0.038	T	0.32929	-0.9888	10	0.06757	T	0.87	-16.8454	9.8171	0.40860	0.1535:0.0:0.0:0.8465	.	260;260;226	Q9HBA0-2;Q9HBA0;Q9HBA0-5	.;TRPV4_HUMAN;.	R	260;260;260;260;226	ENSP00000406191:Q260R;ENSP00000261740:Q260R;ENSP00000319003:Q260R;ENSP00000442738:Q260R;ENSP00000444336:Q226R	ENSP00000261740:Q260R	Q	-	2	0	TRPV4	108722880	1.000000	0.71417	0.952000	0.39060	0.331000	0.28603	3.218000	0.51192	1.981000	0.57761	0.533000	0.62120	CAG	TRPV4	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel		0.642	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	HGNC	protein_coding	OTTHUMT00000403270.1	T	NM_021625		110238497	-1	no_errors	ENST00000261740	ensembl	human	known	70_37	missense	SNP	1.000	C
TSPEAR	54084	genome.wustl.edu	37	21	45924701	45924701	+	Silent	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr21:45924701G>A	ENST00000323084.4	-	11	1883	c.1818C>T	c.(1816-1818)ttC>ttT	p.F606F	TSPEAR-AS1_ENST00000451035.1_RNA	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	606					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TACGCCCATCGAAGGAGTTGG	0.542																																																	0													87.0	83.0	84.0					21																	45924701		2203	4300	6503	SO:0001819	synonymous_variant	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1818C>T	21.37:g.45924701G>A				Silent	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.F606	ENST00000323084.4	37	c.1818	CCDS13712.1	21																																																																																			TSPEAR	-	pfam_EPTP,pfscan_EAR		0.542	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	G	NM_144991		45924701	-1	no_errors	ENST00000323084	ensembl	human	known	70_37	silent	SNP	0.801	A
TTN	7273	genome.wustl.edu	37	2	179507003	179507003	+	Missense_Mutation	SNP	G	G	A	rs528749203		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr2:179507003G>A	ENST00000591111.1	-	169	35820	c.35596C>T	c.(35596-35598)Cgt>Tgt	p.R11866C	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R4567C|TTN_ENST00000460472.2_Missense_Mutation_p.R4442C|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R10939C|TTN_ENST00000589042.1_Missense_Mutation_p.R13507C|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.3_ENST00000605021.1_lincRNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4634C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11866	Glu-rich.|Pro-rich.				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)			TCAGGTTTACGTTCCGGAAGT	0.318																																																	0													57.0	53.0	54.0					2																	179507003		1803	4069	5872	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.35596C>T	2.37:g.179507003G>A	ENSP00000465570:p.Arg11866Cys		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.R10939C	ENST00000591111.1	37	c.32815		2	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859858	0.51482	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766;ENST00000434777	T;T;T;T	0.63096	-0.02;0.18;0.19;0.15	5.55	5.55	0.83447	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.45397	0.1340	N	0.08118	0	0.31862	N	0.620849	B;B;B;B;P	0.49447	0.199;0.199;0.199;0.199;0.924	B;B;B;B;B	0.40782	0.031;0.031;0.058;0.058;0.34	T	0.59500	-0.7443	9	0.87932	D	0	.	15.7151	0.77661	0.0:0.2705:0.7295:0.0	.	4442;4567;4634;11866;10633	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-5	.;.;.;TITIN_HUMAN;.	C	10939;4442;4634;4567;4442;828;166	ENSP00000343764:R10939C;ENSP00000434586:R4442C;ENSP00000340554:R4634C;ENSP00000352154:R4567C	ENSP00000340554:R4634C	R	-	1	0	TTN	179215248	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.470000	0.45119	2.610000	0.88304	0.591000	0.81541	CGT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.318	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179507003	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179594157	179594157	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr2:179594157G>T	ENST00000591111.1	-	62	17999	c.17775C>A	c.(17773-17775)agC>agA	p.S5925R	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S4998R|TTN_ENST00000589042.1_Missense_Mutation_p.S6242R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12720	Ig-like 40.				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)			TGTATTTTTTGCTGCTTCGAA	0.438																																																	0													139.0	131.0	134.0					2																	179594157		1928	4128	6056	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.17775C>A	2.37:g.179594157G>T	ENSP00000465570:p.Ser5925Arg		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.S4998R	ENST00000591111.1	37	c.14994		2	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879510	0.33162	.	.	ENSG00000155657	ENST00000342992	T	0.49432	0.78	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64327	0.2588	M	0.74881	2.28	0.80722	D	1	P	0.42483	0.781	P	0.54965	0.765	T	0.66236	-0.5974	9	0.87932	D	0	.	13.4996	0.61447	0.0711:0.0:0.9289:0.0	.	5925	Q8WZ42	TITIN_HUMAN	R	4998	ENSP00000343764:S4998R	ENSP00000343764:S4998R	S	-	3	2	TTN	179302402	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.115000	0.64655	2.795000	0.96236	0.655000	0.94253	AGC	TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179594157	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
VAV2	7410	genome.wustl.edu	37	9	136652376	136652376	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr9:136652376C>T	ENST00000371850.3	-	16	1445	c.1414G>A	c.(1414-1416)Ggg>Agg	p.G472R	VAV2_ENST00000371851.1_Intron|VAV2_ENST00000406606.3_Intron	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	472	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		ACCATTTTCCCGTGAGACTAG	0.647																																																	0													91.0	85.0	87.0					9																	136652376		1568	3582	5150	SO:0001583	missense	7410				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1414G>A	9.37:g.136652376C>T	ENSP00000360916:p.Gly472Arg		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain	p.G472R	ENST00000371850.3	37	c.1414	CCDS48053.1	9	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567531	0.65651	.	.	ENSG00000160293	ENST00000371850	D	0.88586	-2.4	4.41	4.41	0.53225	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.89626	0.6769	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87191	0.2234	9	0.18710	T	0.47	.	17.0056	0.86392	0.0:1.0:0.0:0.0	.	472	P52735	VAV2_HUMAN	R	472	ENSP00000360916:G472R	ENSP00000360916:G472R	G	-	1	0	VAV2	135642197	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.080000	0.71299	2.007000	0.58848	0.491000	0.48974	GGG	VAV2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.647	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	HGNC	protein_coding	OTTHUMT00000054939.1	C			136652376	-1	no_errors	ENST00000371850	ensembl	human	known	70_37	missense	SNP	1.000	T
WAC	51322	genome.wustl.edu	37	10	28821811	28821811	+	5'Flank	SNP	G	G	A			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr10:28821811G>A	ENST00000354911.4	+	0	0				WAC_ENST00000375646.1_5'UTR|WAC_ENST00000375664.4_5'UTR|WAC-AS1_ENST00000528337.1_RNA|WAC_ENST00000532233.1_3'UTR|WAC-AS1_ENST00000527986.1_RNA|WAC_ENST00000347934.4_5'Flank|WAC_ENST00000428935.1_5'Flank	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AGGCGCCCGAGCGAGACTATC	0.667																																																	0																																										SO:0001631	upstream_gene_variant	51322			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872		10.37:g.28821811G>A	Exception_encountered		A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	RNA	SNP	-	NULL	ENST00000354911.4	37	NULL	CCDS7159.1	10																																																																																			WAC	-	-		0.667	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	HGNC	protein_coding	OTTHUMT00000047371.1	G	NM_100264		28821811	+1	no_errors	ENST00000528491	ensembl	human	known	70_37	rna	SNP	0.000	A
XAF1	54739	genome.wustl.edu	37	17	6659439	6659439	+	Intron	SNP	T	T	G			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr17:6659439T>G	ENST00000361842.3	+	1	271				XAF1_ENST00000441631.1_Intron|XAF1_ENST00000346752.4_Intron|XAF1_ENST00000438512.1_Intron|XAF1_ENST00000576459.1_Intron	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1						apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|negative regulation of protein complex assembly (GO:0031333)|response to interferon-beta (GO:0035456)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						GGTAAGAAAGTGCTTTCTCCA	0.517																																																	0													94.0	93.0	93.0					17																	6659439		2203	4300	6503	SO:0001627	intron_variant	54739			X99699	CCDS11080.1, CCDS11081.1	17p13.2	2010-03-19			ENSG00000132530	ENSG00000132530			30932	protein-coding gene	gene with protein product		606717				12029096, 11175744	Standard	NM_199139		Approved	BIRC4BP, XIAPAF1, HSXIAPAF1	uc002gdn.3	Q6GPH4		ENST00000361842.3:c.32+10T>G	17.37:g.6659439T>G			A2T931|A2T932|A8K2L1|A8K9Y3|D3DTM6|Q6MZE8|Q8N557|Q99982	RNA	SNP	-	NULL	ENST00000361842.3	37	NULL	CCDS11080.1	17																																																																																			XAF1	-	-		0.517	XAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XAF1	HGNC	protein_coding	OTTHUMT00000439643.5	T	NM_017523		6659439	+1	no_errors	ENST00000575267	ensembl	human	putative	70_37	rna	SNP	0.000	G
XIST	7503	genome.wustl.edu	37	X	73065175	73065175	+	lincRNA	SNP	G	G	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chrX:73065175G>T	ENST00000429829.1	-	0	7413					NR_001564.2				X inactive specific transcript (non-protein coding)																		CTGCTGTACTGCAAAAAGGGT	0.473																																																	0													219.0	195.0	202.0					X																	73065175		876	1991	2867			7503			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73065175G>T				RNA	SNP	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			XIST	-	-		0.473	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1	G	NR_001564		73065175	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.000	T
ZNF711	7552	genome.wustl.edu	37	X	84525770	84525770	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chrX:84525770C>T	ENST00000373165.3	+	9	1528	c.1222C>T	c.(1222-1224)Cat>Tat	p.H408Y	ZNF711_ENST00000542798.1_Missense_Mutation_p.H250Y|ZNF711_ENST00000276123.3_Missense_Mutation_p.H408Y|ZNF711_ENST00000360700.4_Missense_Mutation_p.H454Y|ZNF711_ENST00000395402.1_Missense_Mutation_p.H416Y	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	408					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TCATCCTGATCATTTAATGAG	0.358																																																	0													34.0	29.0	30.0					X																	84525770		2203	4295	6498	SO:0001583	missense	7552			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1222C>T	X.37:g.84525770C>T	ENSP00000362260:p.His408Tyr		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H416Y	ENST00000373165.3	37	c.1246	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037390	0.54896	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.07688	3.18;3.23;3.23;3.2;3.17	5.49	4.62	0.57501	Zinc finger, C2H2 (1);	0.000000	0.45126	D	0.000388	T	0.26376	0.0644	M	0.72353	2.195	0.53688	D	0.999975	D;B	0.55172	0.97;0.141	D;B	0.68943	0.961;0.039	T	0.00662	-1.1621	10	0.46703	T	0.11	-11.8893	13.6505	0.62308	0.0:0.9233:0.0:0.0767	.	454;408	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	Y	416;408;408;454;250	ENSP00000378798:H416Y;ENSP00000362260:H408Y;ENSP00000276123:H408Y;ENSP00000353922:H454Y;ENSP00000442071:H250Y	ENSP00000276123:H408Y	H	+	1	0	ZNF711	84412426	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	1.086000	0.41228	0.513000	0.50165	CAT	ZNF711	-	pfscan_Znf_C2H2		0.358	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2	C	NM_021998		84525770	+1	no_errors	ENST00000395402	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF812	729648	genome.wustl.edu	37	19	9800928	9800928	+	Silent	SNP	G	G	T			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr19:9800928G>T	ENST00000457674.2	-	5	1769	c.1251C>A	c.(1249-1251)ctC>ctA	p.L417L	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1						CTTTACATATGAGGGCTTTCT	0.408																																																	0																																										SO:0001819	synonymous_variant	729648				CCDS54215.1	19p13.2	2014-04-02			ENSG00000224689	ENSG00000224689		"""Zinc fingers, C2H2-type"", ""-"""	33242	protein-coding gene	gene with protein product							Standard	NM_001199814		Approved		uc021uop.1	P0C7V5	OTTHUMG00000167867	ENST00000457674.2:c.1251C>A	19.37:g.9800928G>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.L417	ENST00000457674.2	37	c.1251	CCDS54215.1	19																																																																																			ZNF812	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF812-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF812	HGNC	protein_coding	OTTHUMT00000396726.1	G			9800928	-1	no_errors	ENST00000457674	ensembl	human	known	70_37	silent	SNP	0.000	T
ZNF852	285346	genome.wustl.edu	37	3	44540772	44540772	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr3:44540772C>G	ENST00000436261.1	-	4	1657	c.1497G>C	c.(1495-1497)ttG>ttC	p.L499F	ZNF852_ENST00000489411.1_5'Flank			Q6ZMS4	ZN852_HUMAN	zinc finger protein 852	499						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.L499F(2)		endometrium(2)|kidney(1)|lung(5)	8						TTCCCACACTCAATACATTCA	0.468																																																	2	Substitution - Missense(2)	lung(2)																																								SO:0001583	missense	285346			BC014381		3p21.32	2013-01-08			ENSG00000178917	ENSG00000178917		"""Zinc fingers, C2H2-type"", ""-"""	27713	protein-coding gene	gene with protein product							Standard	NM_001287349		Approved		uc011azx.2	Q6ZMS4	OTTHUMG00000156453	ENST00000436261.1:c.1497G>C	3.37:g.44540772C>G	ENSP00000389841:p.Leu499Phe		B4DLD7	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.L499F	ENST00000436261.1	37	c.1497		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.456|9.456	1.091721|1.091721	0.20471|0.20471	.|.	.|.	ENSG00000178917|ENSG00000178917	ENST00000313378|ENST00000436261	.|T	.|0.09445	.|2.98	2.86|2.86	2.86|2.86	0.33363|0.33363	.|.	.|.	.|.	.|.	.|.	T|T	0.10380|0.10380	0.0254|0.0254	.|.	.|.	.|.	0.23708|0.23708	N|N	0.997053|0.997053	.|B	.|0.25169	.|0.119	.|B	.|0.21917	.|0.037	T|T	0.20571|0.20571	-1.0271|-1.0271	5|8	0.41790|0.66056	T|D	0.15|0.02	.|.	13.592|13.592	0.61966|0.61966	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|465	.|Q6ZMS4	.|ZN852_HUMAN	Q|F	499|499	.|ENSP00000389841:L499F	ENSP00000322569:E499Q|ENSP00000389841:L499F	E|L	-|-	1|3	0|2	ZNF852|ZNF852	44515776|44515776	0.000000|0.000000	0.05858|0.05858	0.964000|0.964000	0.40570|0.40570	0.598000|0.598000	0.36846|0.36846	-0.077000|-0.077000	0.11394|0.11394	1.924000|1.924000	0.55735|0.55735	0.305000|0.305000	0.20034|0.20034	GAG|TTG	ZNF852	-	NULL		0.468	ZNF852-001	KNOWN	basic|appris_principal	protein_coding	ZNF852	HGNC	protein_coding	OTTHUMT00000344244.1	C	XM_001717402		44540772	-1	no_errors	ENST00000436261	ensembl	human	known	70_37	missense	SNP	0.919	G
