#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
ABCA10	10349	genome.wustl.edu	37	17	67171601	67171601	+	Missense_Mutation	SNP	C	C	G			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr17:67171601C>G	ENST00000269081.4	-	24	3732	c.2823G>C	c.(2821-2823)ttG>ttC	p.L941F	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	941					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L941F(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AGTTTGTGATCAACAACAAAA	0.358																																																	1	Substitution - Missense(1)	cervix(1)											116.0	105.0	109.0					17																	67171601		2203	4300	6503	SO:0001583	missense	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2823G>C	17.37:g.67171601C>G	ENSP00000269081:p.Leu941Phe		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L941F	ENST00000269081.4	37	c.2823	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	C	2.699	-0.271468	0.05716	.	.	ENSG00000154263	ENST00000269081	D	0.86865	-2.18	3.31	-6.62	0.01813	.	1.022090	0.07895	N	0.971823	T	0.73297	0.3569	L	0.43152	1.355	0.09310	N	0.999996	B	0.17038	0.02	B	0.20384	0.029	T	0.60816	-0.7188	10	0.09590	T	0.72	.	1.0527	0.01583	0.3219:0.3294:0.205:0.1437	.	941	Q8WWZ4	ABCAA_HUMAN	F	941	ENSP00000269081:L941F	ENSP00000269081:L941F	L	-	3	2	ABCA10	64683196	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.874000	0.00718	-1.132000	0.02907	0.400000	0.26472	TTG	ABCA10	-	NULL		0.358	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	C	NM_080282		67171601	-1	no_errors	ENST00000269081	ensembl	human	known	70_37	missense	SNP	0.000	G
ADORA1	134	genome.wustl.edu	37	1	203134455	203134455	+	Silent	SNP	C	C	T	rs372315504		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr1:203134455C>T	ENST00000367236.4	+	3	1329	c.408C>T	c.(406-408)ttC>ttT	p.F136F	ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Silent_p.F136F|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Silent_p.F136F	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	136					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)	p.F136F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	TCCTCTCCTTCGTGGTGGGAC	0.652																																																	1	Substitution - coding silent(1)	cervix(1)						C	,	0,4406		0,0,2203	67.0	70.0	69.0		408,408	-3.4	0.4	1		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADORA1	NM_000674.2,NM_001048230.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	136/327,136/327	203134455	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	134			BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.408C>T	1.37:g.203134455C>T			A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.F136	ENST00000367236.4	37	c.408	CCDS1434.1	1																																																																																			ADORA1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.652	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA1	HGNC	protein_coding	OTTHUMT00000100273.1	C	NM_000674		203134455	+1	no_errors	ENST00000309502	ensembl	human	known	70_37	silent	SNP	0.966	T
ADSSL1	122622	genome.wustl.edu	37	14	105196350	105196350	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr14:105196350C>T	ENST00000332972.5	+	1	280	c.121C>T	c.(121-123)Cca>Tca	p.P41S	ADSSL1_ENST00000330877.2_Intron	NM_199165.1	NP_954634.1			adenylosuccinate synthase like 1									p.P41S(1)		central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		CTGGCTGCCTCCAAGGAGTCT	0.662																																																	1	Substitution - Missense(1)	cervix(1)											37.0	33.0	35.0					14																	105196350		2189	4292	6481	SO:0001583	missense	122622			AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000332972.5:c.121C>T	14.37:g.105196350C>T	ENSP00000333019:p.Pro41Ser			Missense_Mutation	SNP	pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase	p.P41S	ENST00000332972.5	37	c.121	CCDS9991.1	14	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031164	0.35797	.	.	ENSG00000185100	ENST00000332972	T	0.47528	0.84	0.759	0.759	0.18438	.	25.424700	0.00597	U	0.000375	T	0.27866	0.0686	N	0.08118	0	0.19945	N	0.999942	B	0.31655	0.334	B	0.22386	0.039	T	0.33675	-0.9859	9	0.87932	D	0	.	.	.	.	.	41	Q8N142-2	.	S	41	ENSP00000333019:P41S	ENSP00000333019:P41S	P	+	1	0	ADSSL1	104267395	0.002000	0.14202	0.016000	0.15963	0.017000	0.09413	0.857000	0.27831	0.691000	0.31592	0.205000	0.17691	CCA	ADSSL1	-	NULL		0.662	ADSSL1-002	KNOWN	basic|CCDS	protein_coding	ADSSL1	HGNC	protein_coding	OTTHUMT00000410531.1	C			105196350	+1	no_errors	ENST00000332972	ensembl	human	known	70_37	missense	SNP	0.048	T
AIM1	202	genome.wustl.edu	37	6	106967523	106967523	+	Missense_Mutation	SNP	G	G	C			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr6:106967523G>C	ENST00000369066.3	+	2	1703	c.1216G>C	c.(1216-1218)Gag>Cag	p.E406Q		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.E406Q(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TAAGCTCTTAGAGAAGGAGGA	0.458																																																	1	Substitution - Missense(1)	cervix(1)											79.0	84.0	82.0					6																	106967523		2203	4300	6503	SO:0001583	missense	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1216G>C	6.37:g.106967523G>C	ENSP00000358062:p.Glu406Gln		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.E406Q	ENST00000369066.3	37	c.1216	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572910	0.28092	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.72051	-0.62	5.93	0.893	0.19236	.	1.253730	0.05815	N	0.614624	T	0.30696	0.0773	N	0.22421	0.69	0.09310	N	0.999995	B	0.25521	0.128	B	0.16722	0.016	T	0.14117	-1.0484	10	0.17369	T	0.5	.	8.983	0.35977	0.3898:0.0:0.6102:0.0	.	406	Q9Y4K1	AIM1_HUMAN	Q	814;406	ENSP00000358062:E406Q	ENSP00000285105:E814Q	E	+	1	0	AIM1	107074216	0.013000	0.17824	0.000000	0.03702	0.005000	0.04900	0.566000	0.23593	-0.123000	0.11745	-0.345000	0.07892	GAG	AIM1	-	NULL		0.458	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	G			106967523	+1	no_errors	ENST00000369066	ensembl	human	known	70_37	missense	SNP	0.000	C
ALDH6A1	4329	genome.wustl.edu	37	14	74534264	74534264	+	Silent	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr14:74534264C>T	ENST00000553458.1	-	8	959	c.861G>A	c.(859-861)aaG>aaA	p.K287K	CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000555126.1_Silent_p.K4K|ALDH6A1_ENST00000350259.4_Silent_p.K274K|AC005484.5_ENST00000492026.1_RNA	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	287					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)	p.K287K(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		CCCCATGGTTCTTGGCTCCCT	0.478																																																	1	Substitution - coding silent(1)	cervix(1)											64.0	65.0	65.0					14																	74534264		2203	4300	6503	SO:0001819	synonymous_variant	4329			M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.861G>A	14.37:g.74534264C>T			B2R609|B4DFS8|J3KNU8|Q9UKM8	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH	p.K287	ENST00000553458.1	37	c.861	CCDS9826.1	14																																																																																			ALDH6A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH		0.478	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH6A1	HGNC	protein_coding	OTTHUMT00000412309.1	C			74534264	-1	no_errors	ENST00000553458	ensembl	human	known	70_37	silent	SNP	1.000	T
AK7	122481	genome.wustl.edu	37	14	96858567	96858567	+	Missense_Mutation	SNP	G	G	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr14:96858567G>T	ENST00000267584.4	+	1	120	c.76G>T	c.(76-78)Gat>Tat	p.D26Y	AK7_ENST00000555570.1_Missense_Mutation_p.D26Y	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	26					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.D26Y(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		AAACCTGTTGGATTCCTACAG	0.617																																																	1	Substitution - Missense(1)	cervix(1)											57.0	64.0	62.0					14																	96858567		2203	4300	6503	SO:0001583	missense	122481			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.76G>T	14.37:g.96858567G>T	ENSP00000267584:p.Asp26Tyr		Q8IYP6	Missense_Mutation	SNP	pfam_Dpy-30_motif,pfam_Adenylate_kin	p.D26Y	ENST00000267584.4	37	c.76	CCDS9945.1	14	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854761	0.71719	.	.	ENSG00000140057	ENST00000267584;ENST00000555570	T	0.63096	-0.02	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.79936	0.4532	M	0.81341	2.54	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.989;0.999	T	0.83231	-0.0063	10	0.87932	D	0	-40.8257	15.9171	0.79527	0.0:0.0:1.0:0.0	.	26;26	Q96M32;G3V365	KAD7_HUMAN;.	Y	26	ENSP00000267584:D26Y	ENSP00000267584:D26Y	D	+	1	0	AK7	95928320	1.000000	0.71417	0.990000	0.47175	0.547000	0.35210	5.346000	0.65992	2.407000	0.81776	0.462000	0.41574	GAT	AK7	-	NULL		0.617	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK7	HGNC	protein_coding	OTTHUMT00000413340.1	G			96858567	+1	no_errors	ENST00000267584	ensembl	human	known	70_37	missense	SNP	1.000	T
ANO9	338440	genome.wustl.edu	37	11	433372	433372	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr11:433372C>T	ENST00000332826.6	-	4	376	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	98					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)	p.E98K(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GCAGGCCCCTCAGGCTCCAGG	0.652																																																	1	Substitution - Missense(1)	cervix(1)											89.0	94.0	93.0					11																	433372		2203	4299	6502	SO:0001583	missense	338440			U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.292G>A	11.37:g.433372C>T	ENSP00000332788:p.Glu98Lys		B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	pfam_Anoctamin	p.E98K	ENST00000332826.6	37	c.292	CCDS31326.1	11	.	.	.	.	.	.	.	.	.	.	c	9.466	1.094344	0.20471	.	.	ENSG00000185101	ENST00000332826	T	0.66460	-0.21	4.21	2.24	0.28232	.	.	.	.	.	T	0.41581	0.1165	L	0.27053	0.805	0.09310	N	1	P	0.44734	0.842	B	0.31442	0.13	T	0.32188	-0.9916	9	0.05620	T	0.96	.	10.9675	0.47421	0.0:0.6326:0.3673:0.0	.	98	A1A5B4	ANO9_HUMAN	K	98	ENSP00000332788:E98K	ENSP00000332788:E98K	E	-	1	0	ANO9	423372	0.000000	0.05858	0.009000	0.14445	0.020000	0.10135	0.816000	0.27267	0.479000	0.27511	-0.312000	0.09012	GAG	ANO9	-	NULL		0.652	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO9	HGNC	protein_coding	OTTHUMT00000384116.1	C	NM_001012302		433372	-1	no_errors	ENST00000332826	ensembl	human	known	70_37	missense	SNP	0.015	T
ARID4A	5926	genome.wustl.edu	37	14	58817911	58817911	+	Missense_Mutation	SNP	A	A	G			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr14:58817911A>G	ENST00000355431.3	+	16	1898	c.1525A>G	c.(1525-1527)Act>Gct	p.T509A	ARID4A_ENST00000431317.2_Missense_Mutation_p.T509A|ARID4A_ENST00000395168.3_Missense_Mutation_p.T509A|ARID4A_ENST00000348476.3_Missense_Mutation_p.T509A	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	509					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T509A(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGACTATGAAACTGCAGAGAA	0.299																																																	2	Substitution - Missense(2)	cervix(2)											72.0	80.0	77.0					14																	58817911		2200	4298	6498	SO:0001583	missense	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1525A>G	14.37:g.58817911A>G	ENSP00000347602:p.Thr509Ala		Q15991|Q15992|Q15993	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.T509A	ENST00000355431.3	37	c.1525	CCDS9732.1	14	.	.	.	.	.	.	.	.	.	.	A	1.221	-0.626934	0.03610	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.42900	0.96;2.49;2.5;2.49;2.47	5.3	1.54	0.23209	.	0.738549	0.13598	N	0.376073	T	0.18341	0.0440	N	0.08118	0	0.09310	N	1	B;B;B	0.19706	0.038;0.0;0.038	B;B;B	0.15484	0.013;0.0;0.013	T	0.28776	-1.0033	10	0.08381	T	0.77	-3.2399	7.9366	0.29933	0.6754:0.2563:0.0683:0.0	.	509;509;509	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	A	509;509;509;509;187	ENSP00000347602:T509A;ENSP00000344556:T509A;ENSP00000378597:T509A;ENSP00000397368:T509A;ENSP00000416053:T187A	ENSP00000344556:T509A	T	+	1	0	ARID4A	57887664	0.921000	0.31238	0.412000	0.26496	0.923000	0.55619	3.048000	0.49862	0.092000	0.17331	-0.274000	0.10170	ACT	ARID4A	-	NULL		0.299	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	A	NM_023001		58817911	+1	no_errors	ENST00000355431	ensembl	human	known	70_37	missense	SNP	0.171	G
ARVCF	421	genome.wustl.edu	37	22	19965082	19965082	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr22:19965082G>A	ENST00000263207.3	-	9	2017	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	ARVCF_ENST00000401994.1_Missense_Mutation_p.R513W|ARVCF_ENST00000406522.1_Missense_Mutation_p.R513W|ARVCF_ENST00000406259.1_Missense_Mutation_p.R576W|ARVCF_ENST00000344269.3_Missense_Mutation_p.R513W	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	576					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R576W(1)		NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GACAGGTTCCGCATGATGCAC	0.682																																																	1	Substitution - Missense(1)	cervix(1)											50.0	54.0	52.0					22																	19965082		2203	4300	6503	SO:0001583	missense	421				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1726C>T	22.37:g.19965082G>A	ENSP00000263207:p.Arg576Trp		B7WNV2	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R576W	ENST00000263207.3	37	c.1726	CCDS13771.1	22	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014142	0.75161	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16	4.05	4.05	0.47172	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.93569	0.7947	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93780	0.7083	9	.	.	.	-6.0243	11.9785	0.53107	0.0:0.0:0.7881:0.2119	.	576;98	O00192;E7EV58	ARVC_HUMAN;.	W	576;513;513;513;576	ENSP00000263207:R576W;ENSP00000342042:R513W;ENSP00000384341:R513W;ENSP00000384732:R513W;ENSP00000385444:R576W	.	R	-	1	2	ARVCF	18345082	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.588000	0.23924	2.549000	0.85964	0.563000	0.77884	CGG	ARVCF	-	superfamily_ARM-type_fold,smart_Armadillo		0.682	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	HGNC	protein_coding	OTTHUMT00000075314.5	G	NM_001670		19965082	-1	no_errors	ENST00000263207	ensembl	human	known	70_37	missense	SNP	1.000	A
ATG9B	285973	genome.wustl.edu	37	7	150720969	150720969	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr7:150720969C>T	ENST00000377974.2	-	1	617	c.542G>A	c.(541-543)gGg>gAg	p.G181E	ATG9B_ENST00000605952.1_Missense_Mutation_p.G181E|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_Missense_Mutation_p.G181E			Q674R7	ATG9B_HUMAN	autophagy related 9B	181					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)		p.G181E(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCTCGGAGCCCTTCAGGGAC	0.612																																																	1	Substitution - Missense(1)	cervix(1)											12.0	14.0	14.0					7																	150720969		1980	4154	6134	SO:0001583	missense	285973			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.542G>A	7.37:g.150720969C>T	ENSP00000475005:p.Gly181Glu		A1A5D3|Q6JRW5|Q8N8I8	RNA	SNP	-	NULL	ENST00000377974.2	37	NULL		7	.	.	.	.	.	.	.	.	.	.	C	6.340	0.430868	0.12045	.	.	ENSG00000248602	ENST00000377974;ENST00000397266;ENST00000545613	.	.	.	4.55	3.66	0.41972	.	0.118365	0.56097	D	0.000030	T	0.44850	0.1313	.	.	.	.	.	.	D	0.62365	0.991	P	0.57620	0.824	T	0.51631	-0.8681	7	0.09843	T	0.71	-19.1654	6.2783	0.20993	0.0:0.7112:0.1887:0.1001	.	181	Q674R7	ATG9B_HUMAN	E	181	.	ENSP00000444232:G181E	G	-	2	0	AC010973.1	150351902	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	2.629000	0.46485	1.259000	0.44117	0.655000	0.94253	GGG	ATG9B	-	-		0.612	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	ATG9B	HGNC	protein_coding		C	NM_173681		150720969	-1	no_errors	ENST00000377974	ensembl	human	known	70_37	rna	SNP	1.000	T
B3GAT1	27087	genome.wustl.edu	37	11	134253724	134253724	+	Silent	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr11:134253724G>A	ENST00000524765.1	-	3	5015	c.471C>T	c.(469-471)gaC>gaT	p.D157D	B3GAT1_ENST00000537389.1_Silent_p.D170D|B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000312527.4_Silent_p.D157D|B3GAT1_ENST00000392580.1_Silent_p.D157D			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	157					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.D157D(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGTCGCGGGCGTCTCCGCGCA	0.736																																																	1	Substitution - coding silent(1)	cervix(1)											29.0	27.0	28.0					11																	134253724		2178	4234	6412	SO:0001819	synonymous_variant	27087			AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.471C>T	11.37:g.134253724G>A			Q96FS7	Silent	SNP	pfam_Glyco_trans_43	p.D170	ENST00000524765.1	37	c.510	CCDS8500.1	11																																																																																			B3GAT1	-	pfam_Glyco_trans_43		0.736	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GAT1	HGNC	protein_coding	OTTHUMT00000393639.1	G	NM_018644		134253724	-1	no_errors	ENST00000537389	ensembl	human	known	70_37	silent	SNP	1.000	A
BSND	7809	genome.wustl.edu	37	1	55464880	55464880	+	Silent	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr1:55464880C>T	ENST00000371265.4	+	1	275	c.21C>T	c.(19-21)ttC>ttT	p.F7F		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	7					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)	p.F7F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						AGAAGACCTTCCGGATCGGCT	0.617																																					Ovarian(191;1657 2078 22894 42033 48899)												1	Substitution - coding silent(1)	cervix(1)											100.0	97.0	98.0					1																	55464880		2203	4300	6503	SO:0001819	synonymous_variant	7809			AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"""deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)"""	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.21C>T	1.37:g.55464880C>T			Q6NT28	Silent	SNP	NULL	p.F7	ENST00000371265.4	37	c.21	CCDS602.1	1																																																																																			BSND	-	NULL		0.617	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSND	HGNC	protein_coding	OTTHUMT00000022213.4	C	NM_057176		55464880	+1	no_errors	ENST00000371265	ensembl	human	known	70_37	silent	SNP	1.000	T
CACNA2D2	9254	genome.wustl.edu	37	3	50404872	50404872	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr3:50404872C>T	ENST00000479441.1	-	28	2374	c.2375G>A	c.(2374-2376)cGc>cAc	p.R792H	XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.R716H|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.R785H|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.R792H|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.R785H|XXcos-LUCA11.4_ENST00000607362.1_RNA|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.R785H|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.R785H|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.R792H|XXcos-LUCA11.4_ENST00000607583.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	792					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R785H(2)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATCCAGGCTGCGGCGGTAGAA	0.612																																																	2	Substitution - Missense(2)	cervix(1)|prostate(1)											72.0	66.0	68.0					3																	50404872		2203	4300	6503	SO:0001583	missense	9254			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2375G>A	3.37:g.50404872C>T	ENSP00000418081:p.Arg792His		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R792H	ENST00000479441.1	37	c.2375	CCDS54588.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.080622	0.94050	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.88024	0.6326	M	0.74881	2.28	0.52099	D	0.999941	D;D	0.89917	0.995;1.0	P;D	0.85130	0.774;0.997	D	0.88958	0.3391	10	0.87932	D	0	-15.5905	17.3234	0.87241	0.0:1.0:0.0:0.0	.	792;785	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	H	792;785;785;716;792;785;785;792	ENSP00000407393:R792H;ENSP00000404631:R785H;ENSP00000266039:R785H;ENSP00000354228:R716H;ENSP00000390526:R792H;ENSP00000378519:R785H;ENSP00000390329:R785H;ENSP00000418081:R792H	ENSP00000266039:R785H	R	-	2	0	CACNA2D2	50379876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.174000	0.77620	2.640000	0.89533	0.655000	0.94253	CGC	CACNA2D2	-	NULL		0.612	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACNA2D2	HGNC	protein_coding	OTTHUMT00000346457.1	C	NM_006030		50404872	-1	no_errors	ENST00000435965	ensembl	human	known	70_37	missense	SNP	1.000	T
CAMTA1	23261	genome.wustl.edu	37	1	7724942	7724942	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr1:7724942G>A	ENST00000303635.7	+	9	2542	c.2335G>A	c.(2335-2337)Gac>Aac	p.D779N	CAMTA1_ENST00000439411.2_Missense_Mutation_p.D779N	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	779					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D779N(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCTGATCAACGACTTCATCTC	0.647			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	1	Substitution - Missense(1)	cervix(1)											164.0	186.0	178.0					1																	7724942		2203	4300	6503	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2335G>A	1.37:g.7724942G>A	ENSP00000306522:p.Asp779Asn		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.D779N	ENST00000303635.7	37	c.2335	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.248917	0.80024	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.45276	0.91;0.9	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.60779	0.2295	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.56595	-0.7953	10	0.34782	T	0.22	-24.3293	18.7931	0.91982	0.0:0.0:1.0:0.0	.	779	Q9Y6Y1	CMTA1_HUMAN	N	779	ENSP00000306522:D779N;ENSP00000402561:D779N	ENSP00000306522:D779N	D	+	1	0	CAMTA1	7647529	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	9.733000	0.98818	2.453000	0.82957	0.549000	0.68633	GAC	CAMTA1	-	NULL		0.647	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	G	NM_015215		7724942	+1	no_errors	ENST00000303635	ensembl	human	known	70_37	missense	SNP	1.000	A
CDH4	1002	genome.wustl.edu	37	20	60511902	60511902	+	Silent	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr20:60511902C>T	ENST00000360469.5	+	16	2740	c.2652C>T	c.(2650-2652)aaC>aaT	p.N884N	CDH4_ENST00000543233.1_Silent_p.N810N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	884	Ser-rich.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N884N(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCTCCCTGAACTCATCCAGTT	0.607																																																	1	Substitution - coding silent(1)	cervix(1)											65.0	55.0	59.0					20																	60511902		2203	4300	6503	SO:0001819	synonymous_variant	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2652C>T	20.37:g.60511902C>T			B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin	p.N884	ENST00000360469.5	37	c.2652	CCDS13488.1	20																																																																																			CDH4	-	pfam_Cadherin_cytoplasmic-dom		0.607	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	C	NM_001794		60511902	+1	no_errors	ENST00000360469	ensembl	human	known	70_37	silent	SNP	1.000	T
CETN1	1068	genome.wustl.edu	37	18	580567	580567	+	Silent	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr18:580567G>A	ENST00000327228.3	+	1	201	c.159G>A	c.(157-159)ctG>ctA	p.L53L		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	53	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)	p.L53L(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						CGAAGGAGCTGAAGGTGGCCA	0.557																																																	1	Substitution - coding silent(1)	cervix(1)											84.0	63.0	70.0					18																	580567		2203	4300	6503	SO:0001819	synonymous_variant	1068			U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.159G>A	18.37:g.580567G>A			B2R536	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L53	ENST00000327228.3	37	c.159	CCDS11820.1	18																																																																																			CETN1	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.557	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CETN1	HGNC	protein_coding	OTTHUMT00000254314.2	G	NM_004066		580567	+1	no_errors	ENST00000327228	ensembl	human	known	70_37	silent	SNP	0.991	A
CMTM4	146223	genome.wustl.edu	37	16	66670350	66670350	+	Silent	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr16:66670350G>A	ENST00000330687.4	-	2	502	c.321C>T	c.(319-321)ctC>ctT	p.L107L	CMTM4_ENST00000394106.2_Silent_p.L107L|CMTM4_ENST00000563952.1_Silent_p.L78L	NM_178818.2|NM_181521.2	NP_848933.1|NP_852662.1	Q8IZR5	CKLF4_HUMAN	CKLF-like MARVEL transmembrane domain containing 4	107	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.L107L(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		TGTGCAGGTTGAGACTGAACA	0.522																																																	1	Substitution - coding silent(1)	cervix(1)											91.0	74.0	80.0					16																	66670350		2201	4300	6501	SO:0001819	synonymous_variant	146223			AF479814	CCDS10817.1, CCDS42170.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000183723	ENSG00000183723			19175	protein-coding gene	gene with protein product		607887	"""chemokine-like factor super family 4"", ""chemokine-like factor superfamily 4"""	CKLFSF4		12782130	Standard	NM_178818		Approved		uc002epz.3	Q8IZR5	OTTHUMG00000137500	ENST00000330687.4:c.321C>T	16.37:g.66670350G>A			Q52M40|Q8IZR4|Q8IZV1	Silent	SNP	pfam_MARVEL-like_dom	p.L107	ENST00000330687.4	37	c.321	CCDS10817.1	16																																																																																			CMTM4	-	pfam_MARVEL-like_dom		0.522	CMTM4-001	KNOWN	basic|CCDS	protein_coding	CMTM4	HGNC	protein_coding	OTTHUMT00000268807.1	G			66670350	-1	no_errors	ENST00000330687	ensembl	human	known	70_37	silent	SNP	1.000	A
CHTF8	54921	genome.wustl.edu	37	16	69154319	69154319	+	3'UTR	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr16:69154319G>A	ENST00000448552.2	-	0	496				CHTF8_ENST00000520529.1_3'UTR|CHTF8_ENST00000519520.1_3'UTR|CHTF8_ENST00000523421.1_Intron|CHTF8_ENST00000306585.6_Missense_Mutation_p.R5W|CHTF8_ENST00000398235.2_3'UTR|CHTF8_ENST00000574807.1_Missense_Mutation_p.R5W|CHTF8_ENST00000518041.1_Intron	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)						cell cycle (GO:0007049)|DNA replication (GO:0006260)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R5W(1)									GGGAAAATCCGAGGTTCTTTC	0.572																																																	1	Substitution - Missense(1)	cervix(1)											81.0	83.0	83.0					16																	69154319		1890	4109	5999	SO:0001624	3_prime_UTR_variant	54921				CCDS42185.1	16q22.1	2009-01-14				ENSG00000168802			24353	protein-coding gene	gene with protein product		613202				12766176	Standard	NM_001039690		Approved	FLJ20400, CTF8, DERPC	uc002ewo.2	P0CG12		ENST00000448552.2:c.*9C>T	16.37:g.69154319G>A			A8MYX8|Q71E72|Q8NDH8|Q8WV66|Q9NX73	Missense_Mutation	SNP	NULL	p.R5W	ENST00000448552.2	37	c.13	CCDS42185.1	16	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315001	0.40996	.	.	ENSG00000168802	ENST00000306585	T	0.24538	1.85	5.39	3.23	0.37069	.	0.000000	0.38720	N	0.001590	T	0.42359	0.1199	.	.	.	0.21553	N	0.999646	D	0.89917	1.0	D	0.79108	0.992	T	0.11567	-1.0582	9	0.87932	D	0	-3.6413	6.2411	0.20791	0.09:0.0:0.6323:0.2777	.	5	P0CG12	CTF8A_HUMAN	W	5	ENSP00000305687:R5W	ENSP00000305687:R5W	R	-	1	2	CHTF8	67711820	0.194000	0.23325	1.000000	0.80357	0.982000	0.71751	0.301000	0.19174	2.533000	0.85409	0.650000	0.86243	CGG	CHTF8	-	NULL		0.572	CHTF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHTF8	HGNC	protein_coding	OTTHUMT00000376352.2	G	NM_017804		69154319	-1	no_errors	ENST00000306585	ensembl	human	known	70_37	missense	SNP	0.998	A
CNTNAP1	8506	genome.wustl.edu	37	17	40837369	40837369	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr17:40837369G>A	ENST00000264638.4	+	5	863	c.646G>A	c.(646-648)Gag>Aag	p.E216K	CTD-3193K9.3_ENST00000592440.1_RNA|CCR10_ENST00000591765.1_5'Flank	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	216	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.E216K(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCTGCACGCCGAGGGCGCCCA	0.662																																																	1	Substitution - Missense(1)	cervix(1)											81.0	69.0	73.0					17																	40837369		2203	4300	6503	SO:0001583	missense	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.646G>A	17.37:g.40837369G>A	ENSP00000264638:p.Glu216Lys			Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.E216K	ENST00000264638.4	37	c.646	CCDS11436.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.320588	0.95682	.	.	ENSG00000108797	ENST00000264638	T	0.80033	-1.33	5.11	5.11	0.69529	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000001	T	0.77811	0.4186	L	0.61036	1.89	0.54753	D	0.999983	P	0.45827	0.867	B	0.38106	0.265	T	0.79909	-0.1604	10	0.41790	T	0.15	.	16.7162	0.85398	0.0:0.0:1.0:0.0	.	216	P78357	CNTP1_HUMAN	K	216	ENSP00000264638:E216K	ENSP00000264638:E216K	E	+	1	0	CNTNAP1	38090895	1.000000	0.71417	0.935000	0.37517	0.754000	0.42855	9.115000	0.94336	2.344000	0.79699	0.561000	0.74099	GAG	CNTNAP1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.662	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	G	NM_003632		40837369	+1	no_errors	ENST00000264638	ensembl	human	known	70_37	missense	SNP	1.000	A
CNTNAP4	85445	genome.wustl.edu	37	16	76528926	76528926	+	Missense_Mutation	SNP	C	C	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr16:76528926C>A	ENST00000476707.1	+	13	2348	c.2209C>A	c.(2209-2211)Cag>Aag	p.Q737K	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.Q685K|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.Q661K|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.Q733K			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	734	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.Q709K(1)|p.Q661K(1)|p.Q733K(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CATTGATTCTCAGTATTACTG	0.373																																																	3	Substitution - Missense(3)	cervix(3)											170.0	166.0	167.0					16																	76528926		2198	4300	6498	SO:0001583	missense	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2209C>A	16.37:g.76528926C>A	ENSP00000417628:p.Gln737Lys		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.Q733K	ENST00000476707.1	37	c.2197		16	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631837	0.46944	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	5.18	5.18	0.71444	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.39083	N	0.001469	T	0.11793	0.0287	.	.	.	0.42943	D	0.994351	B;B;B;P	0.44260	0.209;0.129;0.024;0.83	B;B;B;B	0.43478	0.097;0.068;0.041;0.421	T	0.17745	-1.0359	9	0.14252	T	0.57	.	18.8634	0.92281	0.0:1.0:0.0:0.0	.	661;737;709;734	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	K	733;685;661;737	ENSP00000306893:Q733K;ENSP00000439733:Q685K;ENSP00000418741:Q661K;ENSP00000417628:Q737K	ENSP00000306893:Q733K	Q	+	1	0	CNTNAP4	75086427	0.964000	0.33143	0.762000	0.31397	0.861000	0.49209	2.716000	0.47219	2.861000	0.98227	0.650000	0.86243	CAG	CNTNAP4	-	NULL		0.373	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	C	NM_033401		76528926	+1	no_errors	ENST00000307431	ensembl	human	known	70_37	missense	SNP	0.848	A
COL3A1	1281	genome.wustl.edu	37	2	189873889	189873890	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr2:189873889_189873890insA	ENST00000304636.3	+	48	3935_3936	c.3765_3766insA	c.(3766-3768)aaafs	p.K1256fs	COL3A1_ENST00000317840.5_Frame_Shift_Ins_p.K953fs	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1256	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	ATGGTTCTCGTAAAAACCCCGC	0.401																																																	0																																										SO:0001589	frameshift_variant	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3770dupA	2.37:g.189873894_189873894dupA	ENSP00000304408:p.Lys1256fs		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Frame_Shift_Ins	INS	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.N1256fs	ENST00000304636.3	37	c.3765_3766	CCDS2297.1	2																																																																																			COL3A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C		0.401	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	-	NM_000090		189873890	+1	no_errors	ENST00000304636	ensembl	human	known	70_37	frame_shift_ins	INS	0.991:1.000	A
CPLX4	339302	genome.wustl.edu	37	18	56964111	56964111	+	Missense_Mutation	SNP	T	T	G			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr18:56964111T>G	ENST00000299721.3	-	3	488	c.302A>C	c.(301-303)gAt>gCt	p.D101A	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	101					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)		p.D101A(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				TTCAGGTAAATCCACATCATC	0.358																																																	1	Substitution - Missense(1)	cervix(1)											90.0	82.0	84.0					18																	56964111		2203	4300	6503	SO:0001583	missense	339302			AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.302A>C	18.37:g.56964111T>G	ENSP00000299721:p.Asp101Ala		F1T0L6	Missense_Mutation	SNP	pfam_Synaphin	p.D101A	ENST00000299721.3	37	c.302	CCDS11973.1	18	.	.	.	.	.	.	.	.	.	.	T	14.83	2.651849	0.47362	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.66	5.66	0.87406	.	0.044822	0.85682	D	0.000000	T	0.55465	0.1922	L	0.56769	1.78	0.80722	D	1	B	0.31705	0.336	B	0.35770	0.21	T	0.57447	-0.7810	9	0.48119	T	0.1	-6.7827	11.0027	0.47616	0.0:0.0743:0.0:0.9257	.	101	Q7Z7G2	CPLX4_HUMAN	A	101	.	ENSP00000299721:D101A	D	-	2	0	CPLX4	55115091	1.000000	0.71417	0.999000	0.59377	0.690000	0.40134	4.544000	0.60691	2.144000	0.66660	0.459000	0.35465	GAT	CPLX4	-	pfam_Synaphin		0.358	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPLX4	HGNC	protein_coding	OTTHUMT00000256127.1	T	NM_181654		56964111	-1	no_errors	ENST00000299721	ensembl	human	known	70_37	missense	SNP	1.000	G
CPSF1	29894	genome.wustl.edu	37	8	145620684	145620684	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr8:145620684G>A	ENST00000349769.3	-	27	3156	c.3062C>T	c.(3061-3063)aCg>aTg	p.T1021M	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1021					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.T1021M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ATAGTGGGCCGTGCAGCGCAG	0.662																																					NSCLC(133;1088 1848 27708 34777 35269)												1	Substitution - Missense(1)	cervix(1)											50.0	45.0	47.0					8																	145620684		2203	4299	6502	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3062C>T	8.37:g.145620684G>A	ENSP00000339353:p.Thr1021Met		Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.T1021M	ENST00000349769.3	37	c.3062	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328381	0.81690	.	.	ENSG00000071894	ENST00000349769	T	0.76968	-1.06	5.0	5.0	0.66597	.	0.174931	0.49916	D	0.000128	D	0.86785	0.6016	M	0.87758	2.905	0.80722	D	1	D	0.57899	0.981	P	0.55087	0.768	D	0.89314	0.3635	10	0.66056	D	0.02	-7.4844	15.8343	0.78787	0.0:0.0:1.0:0.0	.	1021	Q10570	CPSF1_HUMAN	M	1021	ENSP00000339353:T1021M	ENSP00000339353:T1021M	T	-	2	0	CPSF1	145591492	1.000000	0.71417	0.935000	0.37517	0.951000	0.60555	8.793000	0.91862	2.340000	0.79590	0.536000	0.68110	ACG	CPSF1	-	NULL		0.662	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	G	NM_013291		145620684	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	missense	SNP	1.000	A
CSMD2	114784	genome.wustl.edu	37	1	34180259	34180259	+	Missense_Mutation	SNP	C	C	G			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr1:34180259C>G	ENST00000373381.4	-	21	3510	c.3334G>C	c.(3334-3336)Gag>Cag	p.E1112Q		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1072	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E1072Q(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCGGTGCCCTCCAGACGGTAC	0.642																																																	1	Substitution - Missense(1)	cervix(1)											94.0	105.0	101.0					1																	34180259		2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3334G>C	1.37:g.34180259C>G	ENSP00000362479:p.Glu1112Gln		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.E1112Q	ENST00000373381.4	37	c.3334		1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882662	0.91740	.	.	ENSG00000121904	ENST00000373381	T	0.63255	-0.03	5.85	5.85	0.93711	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.68997	0.3062	N	0.21282	0.65	0.80722	D	1	D;P	0.59767	0.986;0.854	D;D	0.75020	0.935;0.985	T	0.66945	-0.5795	10	0.35671	T	0.21	.	19.1531	0.93496	0.0:1.0:0.0:0.0	.	1072;1112	Q7Z408;E7EUA6	CSMD2_HUMAN;.	Q	1112	ENSP00000362479:E1112Q	ENSP00000241312:E1072Q	E	-	1	0	CSMD2	33952846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.753000	0.94483	0.655000	0.94253	GAG	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.642	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		C	NM_052896		34180259	-1	no_errors	ENST00000373381	ensembl	human	known	70_37	missense	SNP	1.000	G
CTNNA3	29119	genome.wustl.edu	37	10	68979522	68979522	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr10:68979522G>A	ENST00000433211.2	-	6	860	c.686C>T	c.(685-687)tCt>tTt	p.S229F	CTNNA3_ENST00000545309.1_Missense_Mutation_p.S229F|CTNNA3_ENST00000373744.4_Missense_Mutation_p.S229F	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.S229F(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGCAACATCAGAATGCTCCAA	0.418																																																	2	Substitution - Missense(2)	cervix(2)											117.0	115.0	115.0					10																	68979522		2203	4300	6503	SO:0001583	missense	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.686C>T	10.37:g.68979522G>A	ENSP00000389714:p.Ser229Phe			Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.S229F	ENST00000433211.2	37	c.686	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880689	0.51801	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.44881	0.91;0.91;0.91	5.4	4.41	0.53225	.	0.000000	0.50627	D	0.000111	T	0.48390	0.1497	L	0.29908	0.895	0.29249	N	0.872123	D;D;P;P	0.55385	0.971;0.971;0.878;0.911	P;P;P;P	0.58331	0.837;0.837;0.785;0.478	T	0.48514	-0.9029	10	0.87932	D	0	-7.9827	15.8121	0.78573	0.0:0.0:0.8547:0.1453	.	229;229;229;229	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	F	229	ENSP00000389714:S229F;ENSP00000362849:S229F;ENSP00000441444:S229F	ENSP00000362849:S229F	S	-	2	0	CTNNA3	68649528	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.706000	0.68362	2.538000	0.85594	0.591000	0.81541	TCT	CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.418	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	G	NM_013266		68979522	-1	no_errors	ENST00000373744	ensembl	human	known	70_37	missense	SNP	1.000	A
CYB5R2	51700	genome.wustl.edu	37	11	7687688	7687688	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr11:7687688G>A	ENST00000533558.1	-	8	1208	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	CYB5R2_ENST00000299497.9_Missense_Mutation_p.P218S|CYB5R2_ENST00000528585.1_Intron|CYB5R2_ENST00000299498.6_Missense_Mutation_p.P218S|CYB5R2_ENST00000524790.1_Missense_Mutation_p.P218S			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	218					oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.P218S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTACCAATGGGAGGCCTGTCC	0.483											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											160.0	133.0	142.0					11																	7687688		2201	4296	6497	SO:0001583	missense	51700			AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.652C>T	11.37:g.7687688G>A	ENSP00000437041:p.Pro218Ser	643	Q9BVA3|Q9UF68|Q9UHJ0	Missense_Mutation	SNP	pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase	p.P218S	ENST00000533558.1	37	c.652	CCDS7780.1	11	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912408	0.33721	.	.	ENSG00000166394	ENST00000524790;ENST00000299498;ENST00000533558;ENST00000299497	D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49	5.8	5.8	0.92144	Oxidoreductase FAD/NAD(P)-binding (1);	0.052778	0.85682	D	0.000000	D	0.93562	0.7945	L	0.53671	1.685	0.58432	D	0.999996	B	0.29341	0.242	B	0.35182	0.197	D	0.91501	0.5219	10	0.44086	T	0.13	-12.4231	17.5569	0.87894	0.0:0.0:1.0:0.0	.	218	Q6BCY4	NB5R2_HUMAN	S	218	ENSP00000435916:P218S;ENSP00000299498:P218S;ENSP00000437041:P218S;ENSP00000299497:P218S	ENSP00000299497:P218S	P	-	1	0	CYB5R2	7644264	1.000000	0.71417	0.998000	0.56505	0.382000	0.30200	4.197000	0.58413	2.735000	0.93741	0.655000	0.94253	CCC	CYB5R2	-	pfam_OxRdtase_FAD/NAD-bd		0.483	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R2	HGNC	protein_coding	OTTHUMT00000385679.1	G	NM_016229		7687688	-1	no_errors	ENST00000299498	ensembl	human	known	70_37	missense	SNP	1.000	A
DDX3X	1654	genome.wustl.edu	37	X	41202541	41202541	+	Missense_Mutation	SNP	G	G	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chrX:41202541G>T	ENST00000399959.2	+	7	1471	c.616G>T	c.(616-618)Gtg>Ttg	p.V206L	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_Missense_Mutation_p.V250L|DDX3X_ENST00000457138.2_Missense_Mutation_p.V190L|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	206	Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)	p.V206L(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CCCAACTCCAGTGCAAAAGCA	0.383										HNSCC(61;0.18)																																							1	Substitution - Missense(1)	cervix(1)											79.0	72.0	74.0					X																	41202541		2182	4293	6475	SO:0001583	missense	1654			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.616G>T	X.37:g.41202541G>T	ENSP00000382840:p.Val206Leu		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.V206L	ENST00000399959.2	37	c.616	CCDS43931.1	X	.	.	.	.	.	.	.	.	.	.	G	34	5.369906	0.95900	.	.	ENSG00000215301	ENST00000399959;ENST00000457138;ENST00000542215	T;T;T	0.45276	2.39;2.39;0.9	5.89	5.89	0.94794	RNA helicase, DEAD-box type, Q motif (1);DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	M	0.90542	3.125	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.971;0.971;1.0;1.0	D;D;D;D;D	0.79784	0.992;0.931;0.931;0.993;0.993	T	0.78605	-0.2139	10	0.87932	D	0	-0.2404	19.1867	0.93647	0.0:0.0:1.0:0.0	.	206;190;206;218;206	B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;DDX3X_HUMAN	L	206;190;250	ENSP00000382840:V206L;ENSP00000392494:V190L;ENSP00000439799:V250L	ENSP00000382840:V206L	V	+	1	0	DDX3X	41087485	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.483000	0.83821	0.600000	0.82982	GTG	DDX3X	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif		0.383	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	G	NM_024005		41202541	+1	no_errors	ENST00000399959	ensembl	human	known	70_37	missense	SNP	1.000	T
DHX33	56919	genome.wustl.edu	37	17	5359354	5359354	+	Missense_Mutation	SNP	T	T	C			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr17:5359354T>C	ENST00000225296.3	-	5	1198	c.998A>G	c.(997-999)tAt>tGt	p.Y333C	DHX33_ENST00000433302.3_Silent_p.L146L	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	333	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)	p.Y333C(1)		breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTGCTGTGCATAGGGCAGGGA	0.612																																																	1	Substitution - Missense(1)	cervix(1)											122.0	94.0	103.0					17																	5359354		2203	4300	6503	SO:0001583	missense	56919			AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.998A>G	17.37:g.5359354T>C	ENSP00000225296:p.Tyr333Cys		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Y333C	ENST00000225296.3	37	c.998	CCDS11072.1	17	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457420	0.63401	.	.	ENSG00000005100	ENST00000225296	T	0.75154	-0.91	5.78	2.21	0.28008	Helicase, C-terminal (3);	0.234074	0.45126	D	0.000385	T	0.79387	0.4437	M	0.70595	2.14	0.24457	N	0.994451	P	0.45011	0.848	P	0.56343	0.796	T	0.69390	-0.5158	10	0.87932	D	0	.	7.0538	0.25087	0.0:0.1395:0.1263:0.7342	.	333	Q9H6R0	DHX33_HUMAN	C	333	ENSP00000225296:Y333C	ENSP00000225296:Y333C	Y	-	2	0	DHX33	5300078	0.999000	0.42202	0.873000	0.34254	0.978000	0.69477	2.972000	0.49256	1.012000	0.39366	0.533000	0.62120	TAT	DHX33	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.612	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX33	HGNC	protein_coding	OTTHUMT00000219826.2	T	NM_020162		5359354	-1	no_errors	ENST00000225296	ensembl	human	known	70_37	missense	SNP	0.305	C
DPY19L2P1	554236	genome.wustl.edu	37	7	35131375	35131375	+	RNA	SNP	C	C	G	rs117114564		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr7:35131375C>G	ENST00000436258.1	-	0	1994							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										gtgtgtgtgtctgtgtgtgtg	0.398																																																	0																																												554236			BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131375C>G			B4E2E3	RNA	SNP	-	NULL	ENST00000436258.1	37	NULL		7																																																																																			DPY19L2P1	-	-		0.398	DPY19L2P1-002	KNOWN	basic	processed_transcript	DPY19L2P1	HGNC	pseudogene	OTTHUMT00000338113.1	C			35131375	-1	no_errors	ENST00000436258	ensembl	human	known	70_37	rna	SNP	0.013	G
DZIP1L	199221	genome.wustl.edu	37	3	137800604	137800604	+	Silent	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr3:137800604G>A	ENST00000327532.2	-	9	1568	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Silent_p.I402I	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	402					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.I402I(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						ACAAGGACTGGATCTGCAAAG	0.502																																																	1	Substitution - coding silent(1)	cervix(1)											156.0	118.0	131.0					3																	137800604		2203	4300	6503	SO:0001819	synonymous_variant	199221			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1206C>T	3.37:g.137800604G>A			C9JUG5|Q96M38	Silent	SNP	pfscan_Znf_C2H2	p.I402	ENST00000327532.2	37	c.1206	CCDS3096.1	3																																																																																			DZIP1L	-	NULL		0.502	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1	G	NM_173543		137800604	-1	no_errors	ENST00000327532	ensembl	human	known	70_37	silent	SNP	0.952	A
EGFL8	80864	genome.wustl.edu	37	6	32135384	32135384	+	Silent	SNP	C	C	T	rs537573019		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr6:32135384C>T	ENST00000395512.1	+	8	891	c.786C>T	c.(784-786)atC>atT	p.I262I	PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000489721.1_3'UTR|EGFL8_ENST00000333845.6_Silent_p.I262I|AGPAT1_ENST00000490711.1_5'Flank			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	262						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.I262I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						GTGACCGGATCGAATCTCTCA	0.647																																																	1	Substitution - coding silent(1)	cervix(1)											61.0	64.0	63.0					6																	32135384		1510	2709	4219	SO:0001819	synonymous_variant	80864			U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"""chromosome 6 open reading frame 8"""	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.786C>T	6.37:g.32135384C>T			B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Silent	SNP	pfam_EMI_domain,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_EMI_domain	p.I262	ENST00000395512.1	37	c.786	CCDS4743.1	6																																																																																			EGFL8	-	NULL		0.647	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFL8	HGNC	protein_coding	OTTHUMT00000076463.3	C	NM_030652		32135384	+1	no_errors	ENST00000333845	ensembl	human	known	70_37	silent	SNP	0.998	T
EIF3E	3646	genome.wustl.edu	37	8	109252288	109252288	+	Missense_Mutation	SNP	T	T	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr8:109252288T>A	ENST00000220849.5	-	3	284	c.222A>T	c.(220-222)agA>agT	p.R74S	EIF3E_ENST00000519030.1_5'UTR	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E									p.R74S(1)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			CCACTGTGGTTCTTTTCTCTC	0.373																																					GBM(15;360 410 8460 34179 52246)												1	Substitution - Missense(1)	cervix(1)											159.0	146.0	151.0					8																	109252288		2203	4300	6503	SO:0001583	missense	3646			U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.222A>T	8.37:g.109252288T>A	ENSP00000220849:p.Arg74Ser			Missense_Mutation	SNP	pfam_eIF3_su6_N,pfam_PCI_dom,smart_PCI_dom,pirsf_Transl_init_fac_3_su6_euk	p.R74S	ENST00000220849.5	37	c.222	CCDS6308.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.0|21.0	4.084694|4.084694	0.76642|0.76642	.|.	.|.	ENSG00000104408|ENSG00000104408	ENST00000521440|ENST00000220849;ENST00000518345	.|T	.|0.53423	.|0.62	5.54|5.54	4.38|4.38	0.52667|0.52667	.|Eukaryotic translation initiation factor 3 (eIF3), subunit 6, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71459|0.71459	0.3342|0.3342	M|M	0.91717|0.91717	3.235|3.235	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.998;0.998;1.0	.|D;P;D	.|0.79108	.|0.966;0.891;0.992	T|T	0.74985|0.74985	-0.3477|-0.3477	5|10	.|0.87932	.|D	.|0	-14.6976|-14.6976	8.6652|8.6652	0.34116|0.34116	0.0:0.1471:0.0:0.8529|0.0:0.1471:0.0:0.8529	.|.	.|74;74;74	.|Q6IAX5;B2R806;P60228	.|.;.;EIF3E_HUMAN	V|S	73|74;25	.|ENSP00000220849:R74S	.|ENSP00000220849:R74S	E|R	-|-	2|3	0|2	EIF3E|EIF3E	109321464|109321464	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	2.097000|2.097000	0.41748|0.41748	1.044000|1.044000	0.40200|0.40200	0.397000|0.397000	0.26171|0.26171	GAA|AGA	EIF3E	-	pfam_eIF3_su6_N,pirsf_Transl_init_fac_3_su6_euk		0.373	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3E	HGNC	protein_coding	OTTHUMT00000380612.2	T	NM_001568		109252288	-1	no_errors	ENST00000220849	ensembl	human	known	70_37	missense	SNP	1.000	A
SGMS1-AS1	104355295	genome.wustl.edu	37	10	52389833	52389833	+	RNA	SNP	G	G	C			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr10:52389833G>C	ENST00000443374.2	+	0	1022				RP11-50E11.3_ENST00000609579.1_RNA																							TTTTGGATTTGACTTTCTGAG	0.438																																																	0																																												0																															10.37:g.52389833G>C				RNA	SNP	-	NULL	ENST00000443374.2	37	NULL		10																																																																																			RP11-50E11.3	-	-		0.438	RP11-50E11.3-001	KNOWN	basic	antisense	ENSG00000226200	Clone_based_vega_gene	antisense	OTTHUMT00000048071.2	G			52389833	+1	no_errors	ENST00000443374	ensembl	human	known	70_37	rna	SNP	1.000	C
F2RL3	9002	genome.wustl.edu	37	19	17001392	17001392	+	Missense_Mutation	SNP	G	G	A	rs372809419		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr19:17001392G>A	ENST00000248076.3	+	2	1448	c.1118G>A	c.(1117-1119)gGc>gAc	p.G373D		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	373					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)	p.G373D(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCGGAAGGGGGCAGCCGGGGC	0.642																																																	1	Substitution - Missense(1)	cervix(1)											12.0	12.0	12.0					19																	17001392		2194	4290	6484	SO:0001583	missense	9002			AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.1118G>A	19.37:g.17001392G>A	ENSP00000248076:p.Gly373Asp		O76067|Q6DK42	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_4,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor	p.G373D	ENST00000248076.3	37	c.1118	CCDS12350.1	19	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382798	0.25031	.	.	ENSG00000127533	ENST00000248076	T	0.56941	0.43	3.99	-1.82	0.07857	.	1.471100	0.04920	U	0.454737	T	0.33731	0.0873	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.18147	-1.0346	10	0.34782	T	0.22	.	1.6615	0.02792	0.1124:0.2974:0.2469:0.3433	.	373	Q96RI0	PAR4_HUMAN	D	373	ENSP00000248076:G373D	ENSP00000248076:G373D	G	+	2	0	F2RL3	16862392	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.640000	0.05440	0.159000	0.19401	0.313000	0.20887	GGC	F2RL3	-	prints_Prot_act_rcpt_4		0.642	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2RL3	HGNC	protein_coding	OTTHUMT00000462875.1	G			17001392	+1	no_errors	ENST00000248076	ensembl	human	known	70_37	missense	SNP	0.000	A
FAM208A	23272	genome.wustl.edu	37	3	56667588	56667588	+	Silent	SNP	A	A	G			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr3:56667588A>G	ENST00000493960.2	-	18	3241	c.3231T>C	c.(3229-3231)ttT>ttC	p.F1077F	FAM208A_ENST00000355628.5_Silent_p.F1016F|FAM208A_ENST00000431842.2_Silent_p.F640F	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1077							poly(A) RNA binding (GO:0044822)	p.F1016F(1)|p.F640F(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AACCATCTACAAACTCCTGCA	0.408																																																	2	Substitution - coding silent(2)	cervix(2)											88.0	95.0	93.0					3																	56667588		2203	4300	6503	SO:0001819	synonymous_variant	23272			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3231T>C	3.37:g.56667588A>G			A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Silent	SNP	pfam_DUF3715	p.F1016	ENST00000493960.2	37	c.3048	CCDS46853.1	3																																																																																			FAM208A	-	NULL		0.408	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	A	NM_015224		56667588	-1	no_errors	ENST00000355628	ensembl	human	known	70_37	silent	SNP	1.000	G
FBXW9	84261	genome.wustl.edu	37	19	12800192	12800192	+	Silent	SNP	G	G	C			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr19:12800192G>C	ENST00000380339.3	-	9	1422	c.1386C>G	c.(1384-1386)ctC>ctG	p.L462L	CTD-2192J16.26_ENST00000593554.1_lincRNA|FBXW9_ENST00000393261.3_Silent_p.L432L|FBXW9_ENST00000544494.1_Silent_p.L170L|CTD-2659N19.2_ENST00000585742.1_RNA|FBXW9_ENST00000587955.1_Silent_p.L452L			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	462					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)			p.L432L(1)|p.S117*(1)		cervix(1)|lung(4)|ovary(1)|prostate(1)	7						TTACCCTATTGAGCCCATTGT	0.622																																																	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	cervix(2)											92.0	80.0	84.0					19																	12800192		2203	4300	6503	SO:0001819	synonymous_variant	84261			BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.1386C>G	19.37:g.12800192G>C			B3KVP7|Q9BT89	Silent	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.L462	ENST00000380339.3	37	c.1386		19																																																																																			FBXW9	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.622	FBXW9-201	KNOWN	basic	protein_coding	FBXW9	HGNC	protein_coding		G	NM_032301		12800192	-1	no_errors	ENST00000380339	ensembl	human	known	70_37	silent	SNP	0.182	C
FGF14	2259	genome.wustl.edu	37	13	102520947	102520947	+	Intron	SNP	C	C	T	rs548959237		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr13:102520947C>T	ENST00000376143.4	-	3	408				FGF14_ENST00000376131.4_Intron|FGF14_ENST00000468052.1_5'UTR	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14						adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAAGCATTCTCGCAAAGATCA	0.318													C|||	1	0.000199681	0.0	0.0	5008	,	,		17804	0.001		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	2259				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.408+127G>A	13.37:g.102520947C>T			Q86YN7|Q96QX6	RNA	SNP	-	NULL	ENST00000376143.4	37	NULL	CCDS9501.1	13																																																																																			FGF14	-	-		0.318	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF14	HGNC	protein_coding	OTTHUMT00000045679.2	C			102520947	-1	no_errors	ENST00000468052	ensembl	human	known	70_37	rna	SNP	0.001	T
FRMPD2	143162	genome.wustl.edu	37	10	49414917	49414917	+	Missense_Mutation	SNP	C	C	G			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr10:49414917C>G	ENST00000374201.3	-	14	1973	c.1671G>C	c.(1669-1671)agG>agC	p.R557S	FRMPD2_ENST00000305531.3_Missense_Mutation_p.R532S|FRMPD2_ENST00000407470.4_Missense_Mutation_p.R525S	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	557	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.R557S(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTTCTGGCCTCCTCTTCTCTG	0.488																																																	1	Substitution - Missense(1)	cervix(1)											110.0	98.0	102.0					10																	49414917		2203	4300	6503	SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1671G>C	10.37:g.49414917C>G	ENSP00000363317:p.Arg557Ser		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.R557S	ENST00000374201.3	37	c.1671	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	C	9.705	1.155498	0.21454	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	D;D;D	0.81579	-1.51;-1.51;-1.51	5.03	-4.33	0.03677	FERM domain (1);Pleckstrin homology-type (1);	.	.	.	.	T	0.60996	0.2312	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.10450	0.0;0.005;0.0	T	0.41466	-0.9507	9	0.31617	T	0.26	.	13.4526	0.61180	0.0:0.5739:0.0:0.4261	.	532;557;525	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	S	557;532;525	ENSP00000363317:R557S;ENSP00000307079:R532S;ENSP00000384339:R525S	ENSP00000307079:R532S	R	-	3	2	FRMPD2	49084923	0.195000	0.23338	0.001000	0.08648	0.455000	0.32408	0.074000	0.14662	-0.884000	0.03976	0.563000	0.77884	AGG	FRMPD2	-	pfscan_FERM_domain		0.488	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	C	NM_152428		49414917	-1	no_errors	ENST00000374201	ensembl	human	known	70_37	missense	SNP	0.000	G
FUT10	84750	genome.wustl.edu	37	8	33247035	33247035	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr8:33247035C>T	ENST00000327671.5	-	4	1289	c.658G>A	c.(658-660)Gac>Aac	p.D220N	FUT10_ENST00000518672.1_Missense_Mutation_p.D192N|FUT10_ENST00000335589.3_Missense_Mutation_p.D158N|FUT10_ENST00000524021.1_Missense_Mutation_p.D192N|FUT10_ENST00000518076.1_5'UTR	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	220					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)	p.D220N(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GGGTCACAGTCTGACTGTACA	0.473																																																	1	Substitution - Missense(1)	cervix(1)											124.0	114.0	118.0					8																	33247035		2203	4300	6503	SO:0001583	missense	84750			AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.658G>A	8.37:g.33247035C>T	ENSP00000332757:p.Asp220Asn		A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met	p.D220N	ENST00000327671.5	37	c.658	CCDS6088.1	8	.	.	.	.	.	.	.	.	.	.	c	16.02	3.004912	0.54254	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.19394	2.3;2.3;2.3;2.15	5.17	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.22244	0.0536	N	0.13235	0.315	0.58432	D	0.99999	D;B;D;B;D;B	0.89917	1.0;0.189;1.0;0.189;0.994;0.368	D;B;D;B;D;B	0.77557	0.99;0.237;0.987;0.396;0.938;0.193	T	0.05818	-1.0862	10	0.02654	T	1	-2.335	11.4967	0.50413	0.0:0.912:0.0:0.088	.	270;220;192;158;220;262	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	N	220;262;192;192;158	ENSP00000332757:D220N;ENSP00000430428:D192N;ENSP00000429870:D192N;ENSP00000334997:D158N	ENSP00000332757:D220N	D	-	1	0	FUT10	33366577	1.000000	0.71417	0.944000	0.38274	0.627000	0.37826	4.175000	0.58263	1.306000	0.44926	0.552000	0.68991	GAC	FUT10	-	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met		0.473	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT10	HGNC	protein_coding	OTTHUMT00000376540.1	C	NM_032664		33247035	-1	no_errors	ENST00000327671	ensembl	human	known	70_37	missense	SNP	0.992	T
GAB3	139716	genome.wustl.edu	37	X	153941667	153941667	+	Silent	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chrX:153941667G>A	ENST00000369575.3	-	3	439	c.408C>T	c.(406-408)tcC>tcT	p.S136S	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Silent_p.S137S	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	136					macrophage differentiation (GO:0030225)			p.S136S(1)		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)					GCTGCAGGGAGGAGGGCGTGT	0.507																																																	1	Substitution - coding silent(1)	cervix(1)											86.0	75.0	79.0					X																	153941667		2203	4300	6503	SO:0001819	synonymous_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.408C>T	X.37:g.153941667G>A			A6NHF8|E9PB44	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S137	ENST00000369575.3	37	c.411	CCDS14760.1	X																																																																																			GAB3	-	NULL		0.507	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB3	HGNC	protein_coding	OTTHUMT00000061192.2	G	NM_001081573		153941667	-1	no_errors	ENST00000424127	ensembl	human	known	70_37	silent	SNP	0.989	A
GABRA2	2555	genome.wustl.edu	37	4	46252457	46252457	+	Missense_Mutation	SNP	C	C	A	rs145736784		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr4:46252457C>A	ENST00000510861.1	-	10	1397	c.1224G>T	c.(1222-1224)aaG>aaT	p.K408N	GABRA2_ENST00000507069.1_Missense_Mutation_p.K468N|GABRA2_ENST00000381620.4_Missense_Mutation_p.K408N|GABRA2_ENST00000356504.1_Missense_Mutation_p.K408N|GABRA2_ENST00000514090.1_Missense_Mutation_p.K408N|GABRA2_ENST00000540012.1_Missense_Mutation_p.K413N			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	408					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.K408N(2)|p.K408K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGAAAGTTTTCTTTGCTTCAG	0.398																																																	3	Substitution - Missense(2)|Substitution - coding silent(1)	cervix(1)|breast(1)|skin(1)											202.0	205.0	204.0					4																	46252457		2203	4299	6502	SO:0001583	missense	2555				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1224G>T	4.37:g.46252457C>A	ENSP00000421828:p.Lys408Asn		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.K413N	ENST00000510861.1	37	c.1239	CCDS3471.1	4	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675519	0.67928	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	5.96	5.12	0.69794	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.88941	0.6574	L	0.35288	1.05	0.58432	D	0.99999	D;D	0.69078	0.985;0.997	P;D	0.63793	0.836;0.918	D	0.90000	0.4114	10	0.66056	D	0.02	.	14.3785	0.66895	0.0:0.9294:0.0:0.0706	.	413;408	B7Z1H8;P47869	.;GBRA2_HUMAN	N	408;408;408;408;413;468	ENSP00000421828:K408N;ENSP00000421300:K408N;ENSP00000371033:K408N;ENSP00000348897:K408N;ENSP00000444409:K413N;ENSP00000427603:K468N	ENSP00000348897:K408N	K	-	3	2	GABRA2	45947214	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.088000	0.71371	1.526000	0.49068	0.655000	0.94253	AAG	GABRA2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAa2_rcpt,tigrfam_Neur_channel		0.398	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GABRA2	HGNC	protein_coding	OTTHUMT00000360848.2	C			46252457	-1	no_errors	ENST00000540012	ensembl	human	known	70_37	missense	SNP	1.000	A
GPBP1	65056	genome.wustl.edu	37	5	56557074	56557074	+	Missense_Mutation	SNP	G	G	C			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr5:56557074G>C	ENST00000506184.2	+	11	2333	c.1228G>C	c.(1228-1230)Gat>Cat	p.D410H	GPBP1_ENST00000424459.3_Missense_Mutation_p.D430H|GPBP1_ENST00000454432.2_Missense_Mutation_p.D430H|GPBP1_ENST00000538707.1_Missense_Mutation_p.D417H|GPBP1_ENST00000264779.6_Missense_Mutation_p.D417H|GPBP1_ENST00000511209.1_Missense_Mutation_p.D402H|GPBP1_ENST00000514387.2_Missense_Mutation_p.D239H			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	410					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D410H(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CTTAACTGAGGATGAAATGAG	0.328																																																	1	Substitution - Missense(1)	cervix(1)											145.0	149.0	148.0					5																	56557074		2203	4300	6503	SO:0001583	missense	65056				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.1228G>C	5.37:g.56557074G>C	ENSP00000421202:p.Asp410His		A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	NULL	p.D430H	ENST00000506184.2	37	c.1288	CCDS34162.1	5	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519962	0.85495	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18;0.18	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.75324	0.3834	M	0.65975	2.015	0.54753	D	0.999986	D;D;D;D	0.71674	0.998;0.995;0.995;0.996	D;P;D;D	0.69479	0.919;0.884;0.947;0.964	T	0.76846	-0.2808	10	0.72032	D	0.01	-23.3588	19.5872	0.95495	0.0:0.0:1.0:0.0	.	430;417;402;410	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	H	430;239;410;430;402;417;417	ENSP00000401596:D430H;ENSP00000421709:D239H;ENSP00000421202:D410H;ENSP00000403522:D430H;ENSP00000422337:D402H;ENSP00000264779:D417H;ENSP00000440090:D417H	ENSP00000264779:D417H	D	+	1	0	GPBP1	56592831	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.539000	0.82063	2.628000	0.89032	0.655000	0.94253	GAT	GPBP1	-	NULL		0.328	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPBP1	HGNC	protein_coding	OTTHUMT00000374496.1	G	NM_022913		56557074	+1	no_errors	ENST00000424459	ensembl	human	known	70_37	missense	SNP	1.000	C
GABRP	2568	genome.wustl.edu	37	5	170236741	170236741	+	Missense_Mutation	SNP	G	G	C			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr5:170236741G>C	ENST00000518525.1	+	10	1466	c.1002G>C	c.(1000-1002)caG>caC	p.Q334H	GABRP_ENST00000519385.1_Intron|GABRP_ENST00000519598.1_Missense_Mutation_p.Q334H|GABRP_ENST00000265294.4_Missense_Mutation_p.Q334H			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	334					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Q334H(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCTTACAGCAGATGGCAGCCA	0.507											OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											188.0	157.0	168.0					5																	170236741		2203	4300	6503	SO:0001583	missense	2568			U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.1002G>C	5.37:g.170236741G>C	ENSP00000430100:p.Gln334His	1883	A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.Q334H	ENST00000518525.1	37	c.1002	CCDS4375.1	5	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521964	0.27211	.	.	ENSG00000094755	ENST00000518525;ENST00000265294;ENST00000519598	D;D;D	0.86097	-2.07;-2.07;-2.07	5.29	5.29	0.74685	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.219328	0.48767	D	0.000168	T	0.68577	0.3016	N	0.12920	0.275	0.29037	N	0.885336	B	0.02656	0.0	B	0.06405	0.002	T	0.55173	-0.8182	10	0.12103	T	0.63	.	7.0801	0.25227	0.0862:0.0:0.7412:0.1726	.	334	O00591	GBRP_HUMAN	H	334	ENSP00000430100:Q334H;ENSP00000265294:Q334H;ENSP00000430772:Q334H	ENSP00000265294:Q334H	Q	+	3	2	GABRP	170169319	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.002000	0.49496	2.489000	0.83994	0.655000	0.94253	CAG	GABRP	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.507	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRP	HGNC	protein_coding	OTTHUMT00000252834.3	G	NM_014211		170236741	+1	no_errors	ENST00000265294	ensembl	human	known	70_37	missense	SNP	0.998	C
GPKOW	27238	genome.wustl.edu	37	X	48976099	48976099	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chrX:48976099C>T	ENST00000156109.5	-	4	603	c.525G>A	c.(523-525)atG>atA	p.M175I		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	175	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.M175I(2)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						GTTTCCAGCCCATGCCCCGCA	0.602																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											57.0	46.0	50.0					X																	48976099		2203	4300	6503	SO:0001583	missense	27238			U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.525G>A	X.37:g.48976099C>T	ENSP00000156109:p.Met175Ile		Q59EK5|Q9BQA8	Missense_Mutation	SNP	pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom	p.M175I	ENST00000156109.5	37	c.525	CCDS35251.1	X	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720582	0.89205	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.16	5.16	0.70880	D111/G-patch (2);	0.000000	0.85682	D	0.000000	D	0.85600	0.5734	M	0.92367	3.3	0.58432	D	0.999999	D	0.76494	0.999	D	0.71414	0.973	D	0.89439	0.3722	9	0.87932	D	0	.	16.6769	0.85281	0.0:1.0:0.0:0.0	.	175	Q92917	GPKOW_HUMAN	I	175	.	ENSP00000156109:M175I	M	-	3	0	GPKOW	48863043	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.902000	0.69869	2.283000	0.76528	0.509000	0.49947	ATG	GPKOW	-	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom		0.602	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPKOW	HGNC	protein_coding	OTTHUMT00000056535.2	C	NM_015698		48976099	-1	no_errors	ENST00000156109	ensembl	human	known	70_37	missense	SNP	1.000	T
GPM6A	2823	genome.wustl.edu	37	4	176561306	176561306	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr4:176561306C>T	ENST00000280187.7	-	7	703	c.658G>A	c.(658-660)Gga>Aga	p.G220R	GPM6A_ENST00000506894.1_Missense_Mutation_p.G209R|GPM6A_ENST00000515090.1_Missense_Mutation_p.G213R|GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000393658.2_Missense_Mutation_p.G220R	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	220					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)	p.G220R(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GCCCCAGCTCCAGCAAGTGCC	0.433																																																	1	Substitution - Missense(1)	cervix(1)											116.0	114.0	114.0					4																	176561306		2203	4300	6503	SO:0001583	missense	2823				CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.658G>A	4.37:g.176561306C>T	ENSP00000280187:p.Gly220Arg		B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP	p.G220R	ENST00000280187.7	37	c.658	CCDS3824.1	4	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336616	0.81801	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397	D;D;D;D;D	0.99722	-6.53;-6.53;-6.53;-6.53;-6.53	5.82	5.82	0.92795	Myelin proteolipid protein PLP, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99648	0.9870	M	0.79805	2.47	0.80722	D	1	D;D;P	0.54964	0.969;0.969;0.946	P;P;P	0.60609	0.877;0.877;0.877	D	0.98225	1.0480	10	0.87932	D	0	-8.4826	20.097	0.97855	0.0:1.0:0.0:0.0	.	213;209;220	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	R	220;220;209;213;212	ENSP00000280187:G220R;ENSP00000377268:G220R;ENSP00000421578:G209R;ENSP00000423984:G213R;ENSP00000422959:G212R	ENSP00000280187:G220R	G	-	1	0	GPM6A	176798300	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.247000	0.78257	2.754000	0.94517	0.650000	0.86243	GGA	GPM6A	-	pfam_Myelin_PLP		0.433	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPM6A	HGNC	protein_coding	OTTHUMT00000362163.1	C			176561306	-1	no_errors	ENST00000280187	ensembl	human	known	70_37	missense	SNP	1.000	T
GTF2F2	2963	genome.wustl.edu	37	13	45781539	45781540	+	Intron	INS	-	-	T	rs75710948|rs560126070|rs376474669	byFrequency	TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr13:45781539_45781540insT	ENST00000340473.6	+	5	445				GTF2F2_ENST00000494087.1_3'UTR	NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa						7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|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)|viral process (GO:0016032)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		TCTCTGAATCCTTTTTTTTTTC	0.312																																																	0																																										SO:0001627	intron_variant	2963			X16901	CCDS9395.1	13q14	2012-01-23	2002-08-29		ENSG00000188342	ENSG00000188342		"""General transcription factors"""	4653	protein-coding gene	gene with protein product		189969	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			8162052	Standard	NM_004128		Approved	TFIIF, BTF4, RAP30	uc001uzw.3	P13984	OTTHUMG00000016849	ENST00000340473.6:c.305-19->T	13.37:g.45781549_45781549dupT			A6NNS5|Q5W0H3	RNA	INS	-	NULL	ENST00000340473.6	37	NULL	CCDS9395.1	13																																																																																			GTF2F2	-	-		0.312	GTF2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2F2	HGNC	protein_coding	OTTHUMT00000044767.2	-	NM_004128		45781540	+1	no_errors	ENST00000494087	ensembl	human	known	70_37	rna	INS	0.003:0.001	T
HECW2	57520	genome.wustl.edu	37	2	197085612	197085612	+	Silent	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr2:197085612C>T	ENST00000260983.3	-	25	4382	c.4200G>A	c.(4198-4200)aaG>aaA	p.K1400K	HECW2_ENST00000409111.1_Silent_p.K1044K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1400	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.K1400K(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCTTCTTGTTCTTCTCTGTAA	0.413																																																	1	Substitution - coding silent(1)	cervix(1)											263.0	223.0	237.0					2																	197085612		2203	4300	6503	SO:0001819	synonymous_variant	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.4200G>A	2.37:g.197085612C>T			B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.K1400	ENST00000260983.3	37	c.4200	CCDS33354.1	2																																																																																			HECW2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.413	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	C	NM_020760		197085612	-1	no_errors	ENST00000260983	ensembl	human	known	70_37	silent	SNP	1.000	T
HLA-DRB6	3128	genome.wustl.edu	37	6	32521160	32521160	+	RNA	SNP	C	C	T	rs62621247	byFrequency	TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr6:32521160C>T	ENST00000411500.1	-	0	867					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		TACCTGTTGGCTGAAGTCCAG	0.408																																																	0																																												3128			L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521160C>T				RNA	SNP	-	NULL	ENST00000411500.1	37	NULL		6																																																																																			HLA-DRB6	-	-		0.408	HLA-DRB6-002	KNOWN	basic	processed_transcript	HLA-DRB6	HGNC	pseudogene	OTTHUMT00000272900.1	C	NR_001298		32521160	-1	no_errors	ENST00000411500	ensembl	human	known	70_37	rna	SNP	0.953	T
HSPH1	10808	genome.wustl.edu	37	13	31724198	31724198	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr13:31724198C>T	ENST00000320027.5	-	8	1374	c.1030G>A	c.(1030-1032)Gct>Act	p.A344T	HSPH1_ENST00000380405.4_Missense_Mutation_p.A344T|HSPH1_ENST00000445273.2_Missense_Mutation_p.A346T|HSPH1_ENST00000429785.2_Missense_Mutation_p.A163T|HSPH1_ENST00000380406.5_Missense_Mutation_p.A303T	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	344					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.A344T(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		ATTCGTGTAGCGCCTCCAACA	0.418																																																	1	Substitution - Missense(1)	cervix(1)											137.0	135.0	135.0					13																	31724198		2203	4300	6503	SO:0001583	missense	10808			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1030G>A	13.37:g.31724198C>T	ENSP00000318687:p.Ala344Thr		B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.A346T	ENST00000320027.5	37	c.1036	CCDS9340.1	13	.	.	.	.	.	.	.	.	.	.	C	8.353	0.831257	0.16820	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.68	-2.3	0.06785	Heat shock protein 70, conserved site (1);	0.272209	0.34750	N	0.003708	T	0.18800	0.0451	N	0.20845	0.615	0.46028	D	0.998827	B;B;B;B;B	0.24963	0.049;0.005;0.115;0.011;0.049	B;B;B;B;B	0.24006	0.05;0.007;0.05;0.01;0.03	T	0.03193	-1.1062	10	0.44086	T	0.13	-6.0088	15.1262	0.72483	0.0:0.6883:0.0:0.3117	.	163;303;346;344;344	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	T	344;344;303;346;163;395	ENSP00000318687:A344T;ENSP00000369768:A344T;ENSP00000369769:A303T;ENSP00000396090:A346T;ENSP00000388778:A163T	ENSP00000318687:A344T	A	-	1	0	HSPH1	30622198	0.875000	0.30112	0.400000	0.26346	0.050000	0.14768	1.451000	0.35145	-0.627000	0.05589	-0.229000	0.12294	GCT	HSPH1	-	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam		0.418	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPH1	HGNC	protein_coding	OTTHUMT00000044384.1	C			31724198	-1	no_errors	ENST00000445273	ensembl	human	known	70_37	missense	SNP	0.815	T
IFNAR1	3454	genome.wustl.edu	37	21	34721581	34721581	+	Missense_Mutation	SNP	G	G	C			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr21:34721581G>C	ENST00000270139.3	+	7	1125	c.973G>C	c.(973-975)Gat>Cat	p.D325H	IFNAR1_ENST00000416947.2_Missense_Mutation_p.D256H|IFNAR1_ENST00000442357.2_Missense_Mutation_p.D325H	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	325	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)	p.D325H(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	GATAAAGTTTGATACTGAAAT	0.323																																					Esophageal Squamous(73;817 1211 32990 35667 42746)												1	Substitution - Missense(1)	cervix(1)											82.0	82.0	82.0					21																	34721581		2203	4300	6503	SO:0001583	missense	3454				CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.973G>C	21.37:g.34721581G>C	ENSP00000270139:p.Asp325His		B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1	p.D325H	ENST00000270139.3	37	c.973	CCDS13624.1	21	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468774	0.43839	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	T;T;T	0.31769	1.48;1.48;1.48	5.56	-1.28	0.09318	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.008760	0.07956	N	0.981622	T	0.43964	0.1271	M	0.69823	2.125	0.09310	N	1	D	0.76494	0.999	D	0.68353	0.957	T	0.33420	-0.9869	10	0.35671	T	0.21	-1.2277	1.0703	0.01619	0.3818:0.1492:0.317:0.152	.	325	P17181	INAR1_HUMAN	H	256;325;325	ENSP00000395606:D256H;ENSP00000270139:D325H;ENSP00000407406:D325H	ENSP00000270139:D325H	D	+	1	0	IFNAR1	33643451	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.228000	0.09114	-0.192000	0.10432	0.655000	0.94253	GAT	IFNAR1	-	superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1		0.323	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNAR1	HGNC	protein_coding	OTTHUMT00000139823.4	G			34721581	+1	no_errors	ENST00000270139	ensembl	human	known	70_37	missense	SNP	0.000	C
INTS1	26173	genome.wustl.edu	37	7	1525079	1525079	+	Silent	SNP	G	G	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr7:1525079G>T	ENST00000404767.3	-	23	3088	c.3003C>A	c.(3001-3003)ggC>ggA	p.G1001G	INTS1_ENST00000389470.4_Silent_p.G1163G	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1001					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)		p.G1163G(1)		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)		CCCGCAGGCTGCCCTCCGAAA	0.667																																																	1	Substitution - coding silent(1)	cervix(1)											28.0	37.0	34.0					7																	1525079		2069	4202	6271	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.3003C>A	7.37:g.1525079G>T			A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.G1163	ENST00000404767.3	37	c.3489	CCDS47526.1	7																																																																																			INTS1	-	NULL		0.667	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	G			1525079	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	silent	SNP	0.800	T
KCND2	3751	genome.wustl.edu	37	7	120373014	120373014	+	Silent	SNP	G	G	A	rs367909110		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr7:120373014G>A	ENST00000331113.4	+	2	2138	c.1173G>A	c.(1171-1173)tcG>tcA	p.S391S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	391					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.S391S(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTATCTGTTCGCTGAGTGGGG	0.423													g|||	1	0.000199681	0.0008	0.0	5008	,	,		16394	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	cervix(1)						A		0,4406		0,0,2203	175.0	158.0	164.0		1173	-11.3	0.1	7		164	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCND2	NM_012281.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		391/631	120373014	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1173G>A	7.37:g.120373014G>A			O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.S391	ENST00000331113.4	37	c.1173	CCDS5776.1	7																																																																																			KCND2	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl		0.423	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	G	NM_012281		120373014	+1	no_errors	ENST00000331113	ensembl	human	known	70_37	silent	SNP	0.003	A
KCNMA1	3778	genome.wustl.edu	37	10	78709021	78709021	+	Missense_Mutation	SNP	G	G	A	rs150678882		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr10:78709021G>A	ENST00000286628.8	-	22	2587	c.2588C>T	c.(2587-2589)cCg>cTg	p.P863L	KCNMA1_ENST00000404771.3_Missense_Mutation_p.P863L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P867L|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000286627.5_Missense_Mutation_p.P805L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P866L|RP11-443A13.5_ENST00000608791.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P846L|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P805L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P805L|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000598613.1_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	863					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.P805L(1)|p.P867L(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GGCACGGAGCGGCATCACCAG	0.552																																																	2	Substitution - Missense(2)	cervix(2)						G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	89.0	82.0	84.0		2426,2588,2537,2414	4.7	1.0	10	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	KCNMA1	NM_001014797.2,NM_001161352.1,NM_001161353.1,NM_002247.3	98,98,98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	809/1183,863/1237,846/1220,805/1179	78709021	1,13005	2203	4300	6503	SO:0001583	missense	3778			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2588C>T	10.37:g.78709021G>A	ENSP00000286628:p.Pro863Leu		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.P867L	ENST00000286628.8	37	c.2600		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.874560|4.874560	0.91664|0.91664	0.0|0.0	1.16E-4|1.16E-4	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403	T;T;T;T;T;T;T;T;T|.	0.52295|.	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67|.	5.63|5.63	4.73|4.73	0.59995|0.59995	NAD(P)-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75997|0.75997	0.3926|0.3926	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	T|T	0.77910|0.77910	-0.2411|-0.2411	10|5	0.87932|.	D|.	0|.	-8.6821|-8.6821	14.7831|14.7831	0.69781|0.69781	0.0694:0.0:0.9306:0.0|0.0694:0.0:0.9306:0.0	.|.	834;808;846;863;805;616;866;805|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	L|C	805;742;798;837;800;805;805;837;867;866;846;616|756	ENSP00000361517:P805L;ENSP00000361485:P742L;ENSP00000361514:P798L;ENSP00000396608:P837L;ENSP00000361520:P805L;ENSP00000286627:P805L;ENSP00000385552:P867L;ENSP00000346321:P866L;ENSP00000385806:P846L|.	ENSP00000286627:P805L|.	P|R	-|-	2|1	0|0	KCNMA1|KCNMA1	78379027|78379027	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.992000|0.992000	0.81027|0.81027	9.813000|9.813000	0.99286|0.99286	1.524000|1.524000	0.49035|0.49035	0.655000|0.655000	0.94253|0.94253	CCG|CGC	KCNMA1	-	NULL		0.552	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	G	NM_002247		78709021	-1	no_errors	ENST00000406533	ensembl	human	known	70_37	missense	SNP	1.000	A
KDM6B	23135	genome.wustl.edu	37	17	7752018	7752018	+	Silent	SNP	C	C	G			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr17:7752018C>G	ENST00000448097.2	+	11	2743	c.2412C>G	c.(2410-2412)ctC>ctG	p.L804L	KDM6B_ENST00000254846.5_Silent_p.L804L			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	804	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.L804L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCAGCCTGCTCAAATCCTTGG	0.642																																																	1	Substitution - coding silent(1)	cervix(1)											33.0	36.0	35.0					17																	7752018		2201	4299	6500	SO:0001819	synonymous_variant	23135			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2412C>G	17.37:g.7752018C>G			C9IZ40|Q96G33	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.L804	ENST00000448097.2	37	c.2412		17																																																																																			KDM6B	-	NULL		0.642	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1	C	XM_043272		7752018	+1	no_errors	ENST00000254846	ensembl	human	known	70_37	silent	SNP	1.000	G
KIAA0368	23392	genome.wustl.edu	37	9	114135509	114135509	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr9:114135509C>T	ENST00000338205.5	-	40	4496	c.4277G>A	c.(4276-4278)cGg>cAg	p.R1426Q	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.R1604Q|KIAA0368_ENST00000465499.1_5'Flank			Q5VYK3	ECM29_HUMAN	KIAA0368	1432					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.R1604Q(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GCTGCTATCCCGTGAGGTCTG	0.338																																																	1	Substitution - Missense(1)	cervix(1)											162.0	158.0	159.0					9																	114135509		1812	4078	5890	SO:0001583	missense	23392			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.4277G>A	9.37:g.114135509C>T	ENSP00000339889:p.Arg1426Gln		O15074|Q8WU82	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R1604Q	ENST00000338205.5	37	c.4811		9	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967213	0.74131	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.64991	-0.13	6.17	6.17	0.99709	.	0.064065	0.64402	D	0.000006	T	0.52058	0.1711	N	0.22421	0.69	0.80722	D	1	B	0.31174	0.311	B	0.26416	0.069	T	0.47509	-0.9112	10	0.44086	T	0.13	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	901	B3KXF2	.	Q	1426;1604;901	ENSP00000259335:R1604Q	ENSP00000259335:R1604Q	R	-	2	0	KIAA0368	113175330	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.280000	0.65603	2.941000	0.99782	0.655000	0.94253	CGG	KIAA0368	-	superfamily_ARM-type_fold		0.338	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2	C	NM_014686		114135509	-1	no_errors	ENST00000259335	ensembl	human	known	70_37	missense	SNP	1.000	T
KIR2DL3	3804	genome.wustl.edu	37	19	55263156	55263156	+	Silent	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr19:55263156C>T	ENST00000342376.3	+	6	802	c.771C>T	c.(769-771)ttC>ttT	p.F257F	KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	257					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.F257F(1)		breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		tcatcctcttcatcctcctcc	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											161.0	134.0	144.0					19																	55263156		1417	2565	3982	SO:0001819	synonymous_variant	3804			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.771C>T	19.37:g.55263156C>T			O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.F257	ENST00000342376.3	37	c.771	CCDS33107.1	19																																																																																			KIR2DL3	-	NULL		0.498	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	KIR2DL3	HGNC	protein_coding	OTTHUMT00000141150.1	C			55263156	+1	no_errors	ENST00000342376	ensembl	human	known	70_37	silent	SNP	0.000	T
LARS	51520	genome.wustl.edu	37	5	145531511	145531511	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr5:145531511C>T	ENST00000394434.2	-	14	1505	c.1339G>A	c.(1339-1341)Gat>Aat	p.D447N	LARS_ENST00000274562.9_Missense_Mutation_p.D420N|LARS_ENST00000510191.1_Missense_Mutation_p.D393N|LARS_ENST00000545646.1_Missense_Mutation_p.D401N	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	447	Editing domain.				gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.D447N(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TTCAACTCATCACAAATGGTT	0.398																																																	1	Substitution - Missense(1)	cervix(1)											165.0	178.0	174.0					5																	145531511		2203	4300	6503	SO:0001583	missense	51520			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1339G>A	5.37:g.145531511C>T	ENSP00000377954:p.Asp447Asn		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk	p.D447N	ENST00000394434.2	37	c.1339	CCDS34265.1	5	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309303	0.60414	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.63417	-0.03;-0.04;-0.04;-0.04	4.96	4.96	0.65561	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.69006	0.3063	N	0.25992	0.78	0.80722	D	1	B;D;B	0.62365	0.018;0.991;0.01	B;D;B	0.70227	0.016;0.968;0.005	T	0.69150	-0.5221	10	0.39692	T	0.17	-8.985	18.6028	0.91255	0.0:1.0:0.0:0.0	.	420;401;447	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	N	447;401;393;420	ENSP00000377954:D447N;ENSP00000437791:D401N;ENSP00000426005:D393N;ENSP00000274562:D420N	ENSP00000274562:D420N	D	-	1	0	LARS	145511704	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.917000	0.69989	2.467000	0.83353	0.563000	0.77884	GAT	LARS	-	pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk		0.398	LARS-001	KNOWN	basic|CCDS	protein_coding	LARS	HGNC	protein_coding	OTTHUMT00000373367.1	C	NM_020117		145531511	-1	no_errors	ENST00000394434	ensembl	human	known	70_37	missense	SNP	1.000	T
LRIG1	26018	genome.wustl.edu	37	3	66455646	66455646	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr3:66455646G>A	ENST00000273261.3	-	9	1660	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L	LRIG1_ENST00000383703.3_Missense_Mutation_p.S379L|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	379					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.S379L(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GTCGAGCCCTGAGAAGGCGCC	0.627																																																	1	Substitution - Missense(1)	cervix(1)											94.0	81.0	85.0					3																	66455646		2203	4300	6503	SO:0001583	missense	26018			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1136C>T	3.37:g.66455646G>A	ENSP00000273261:p.Ser379Leu		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S379L	ENST00000273261.3	37	c.1136	CCDS33783.1	3	.	.	.	.	.	.	.	.	.	.	G	8.308	0.821504	0.16678	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.25085	1.82;1.82	5.46	1.5	0.22942	.	0.789779	0.12379	N	0.474084	T	0.18383	0.0441	L	0.35793	1.09	0.09310	N	1	B;B;B	0.12013	0.001;0.005;0.001	B;B;B	0.15870	0.008;0.014;0.002	T	0.30504	-0.9976	10	0.22706	T	0.39	.	8.5529	0.33462	0.3809:0.0:0.6191:0.0	.	379;403;379	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	L	379;379;306	ENSP00000273261:S379L;ENSP00000373208:S379L	ENSP00000273261:S379L	S	-	2	0	LRIG1	66538336	0.000000	0.05858	0.000000	0.03702	0.386000	0.30323	0.882000	0.28186	-0.010000	0.14271	0.655000	0.94253	TCA	LRIG1	-	smart_Leu-rich_rpt_typical-subtyp		0.627	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	HGNC	protein_coding	OTTHUMT00000351930.1	G	NM_015541		66455646	-1	no_errors	ENST00000273261	ensembl	human	known	70_37	missense	SNP	0.057	A
MARCH6	10299	genome.wustl.edu	37	5	10377945	10377945	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr5:10377945G>A	ENST00000274140.5	+	2	187	c.55G>A	c.(55-57)Gag>Aag	p.E19K	MARCH6_ENST00000503788.1_Intron|MARCH6_ENST00000449913.2_Missense_Mutation_p.E19K	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	19					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E19K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AGGAACACCTGAGAAACCGCT	0.338																																																	1	Substitution - Missense(1)	cervix(1)											166.0	144.0	151.0					5																	10377945		2203	4300	6503	SO:0001583	missense	10299			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.55G>A	5.37:g.10377945G>A	ENSP00000274140:p.Glu19Lys		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.E19K	ENST00000274140.5	37	c.55	CCDS34135.1	5	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131202	0.77549	.	.	ENSG00000145495	ENST00000449913;ENST00000274140	T;T	0.30981	1.51;1.51	5.36	5.36	0.76844	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.053345	0.64402	D	0.000001	T	0.33411	0.0862	L	0.46741	1.465	0.80722	D	1	B;B	0.20459	0.045;0.025	B;B	0.24269	0.014;0.052	T	0.07927	-1.0747	10	0.52906	T	0.07	-22.6137	19.0512	0.93046	0.0:0.0:1.0:0.0	.	19;19	B4DT33;O60337	.;MARH6_HUMAN	K	19	ENSP00000414643:E19K;ENSP00000274140:E19K	ENSP00000274140:E19K	E	+	1	0	MARCH6	10430945	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.450000	0.97607	2.649000	0.89929	0.591000	0.81541	GAG	MARCH6	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH		0.338	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2	G	NM_005885		10377945	+1	no_errors	ENST00000274140	ensembl	human	known	70_37	missense	SNP	1.000	A
MARK2	2011	genome.wustl.edu	37	11	63671484	63671484	+	Missense_Mutation	SNP	C	C	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr11:63671484C>A	ENST00000509502.2	+	15	1902	c.1439C>A	c.(1438-1440)tCc>tAc	p.S480Y	MARK2_ENST00000513765.2_Missense_Mutation_p.S481Y|MARK2_ENST00000377809.4_Missense_Mutation_p.S514Y|MARK2_ENST00000361128.5_Intron|MARK2_ENST00000508192.1_Intron|MARK2_ENST00000402010.2_Missense_Mutation_p.S514Y|MARK2_ENST00000408948.3_Intron|MARK2_ENST00000425897.2_Intron|MARK2_ENST00000413835.2_Intron|MARK2_ENST00000350490.7_Intron|MARK2_ENST00000377810.3_Intron|MARK2_ENST00000315032.8_Missense_Mutation_p.S514Y|MARK2_ENST00000502399.3_Missense_Mutation_p.S513Y	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2									p.S480Y(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TCCCGGGCCTCCACGGCTTCT	0.657																																																	1	Substitution - Missense(1)	cervix(1)											33.0	36.0	35.0					11																	63671484		1815	4070	5885	SO:0001583	missense	2011			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1439C>A	11.37:g.63671484C>A	ENSP00000423974:p.Ser480Tyr			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S514Y	ENST00000509502.2	37	c.1541	CCDS41665.1	11	.	.	.	.	.	.	.	.	.	.	c	9.783	1.175939	0.21704	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000502399;ENST00000509502;ENST00000513765	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	4.31	2.43	0.29744	.	0.076050	0.52532	D	0.000065	T	0.16085	0.0387	N	0.22421	0.69	0.80722	D	1	B;P	0.49253	0.004;0.921	B;B	0.40940	0.012;0.344	T	0.02477	-1.1153	10	0.52906	T	0.07	.	9.5082	0.39060	0.0:0.8226:0.0:0.1774	.	480;514	Q7KZI7-14;Q7KZI7	.;MARK2_HUMAN	Y	514;514;514;513;480;481	ENSP00000385751:S514Y;ENSP00000326632:S514Y;ENSP00000367040:S514Y;ENSP00000423974:S480Y;ENSP00000421075:S481Y	ENSP00000326632:S514Y	S	+	2	0	MARK2	63428060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.957000	0.49137	0.564000	0.29238	0.550000	0.68814	TCC	MARK2	-	NULL		0.657	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	HGNC	protein_coding	OTTHUMT00000360862.2	C	NM_017490		63671484	+1	no_errors	ENST00000402010	ensembl	human	known	70_37	missense	SNP	1.000	A
MED31	51003	genome.wustl.edu	37	17	6553727	6553727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr17:6553727G>A	ENST00000225728.3	-	2	160	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	MED31_ENST00000574128.1_5'UTR|C17orf100_ENST00000391428.2_5'Flank|MED31_ENST00000575197.1_Nonsense_Mutation_p.Q19*	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	19					gene expression (GO:0010467)|limb development (GO:0060173)|negative regulation of fibroblast proliferation (GO:0048147)|protein complex assembly (GO:0006461)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q19*(1)		cervix(1)|endometrium(1)|large_intestine(1)	3						AACTCCAACTGAAACCGAAGT	0.348																																																	1	Substitution - Nonsense(1)	cervix(1)											118.0	113.0	115.0					17																	6553727		2203	4300	6503	SO:0001587	stop_gained	51003			AF151883	CCDS11078.1	17p13.1	2007-07-30	2007-07-30		ENSG00000108590	ENSG00000108590			24260	protein-coding gene	gene with protein product			"""mediator of RNA polymerase II transcription, subunit 31 homolog (S. cerevisiae)"""			10810093	Standard	NM_016060		Approved	CGI-125, Soh1	uc002gdg.4	Q9Y3C7	OTTHUMG00000102051	ENST00000225728.3:c.55C>T	17.37:g.6553727G>A	ENSP00000225728:p.Gln19*		B2R4L9	Nonsense_Mutation	SNP	pfam_Mediator_Med31	p.Q19*	ENST00000225728.3	37	c.55	CCDS11078.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.886231	0.97068	.	.	ENSG00000108590	ENST00000225728	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	0.8509	17.7323	0.88382	0.0:0.0:1.0:0.0	.	.	.	.	X	19	.	ENSP00000225728:Q19X	Q	-	1	0	MED31	6494451	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.652000	0.91083	2.868000	0.98415	0.557000	0.71058	CAG	MED31	-	pfam_Mediator_Med31		0.348	MED31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED31	HGNC	protein_coding	OTTHUMT00000219852.1	G	NM_016060		6553727	-1	no_errors	ENST00000225728	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MFSD2B	388931	genome.wustl.edu	37	2	24247079	24247079	+	Silent	SNP	C	C	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr2:24247079C>A	ENST00000406420.3	+	13	1444	c.1428C>A	c.(1426-1428)ctC>ctA	p.L476L	MFSD2B_ENST00000338315.4_Silent_p.L476L	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	476					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.L476L(2)		cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TCTGCATCCTCATGGTCGGCT	0.652																																																	2	Substitution - coding silent(2)	cervix(2)											50.0	57.0	55.0					2																	24247079		2092	4217	6309	SO:0001819	synonymous_variant	388931				CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.1428C>A	2.37:g.24247079C>A			B5MC32	Silent	SNP	superfamily_MFS_dom_general_subst_transpt	p.L476	ENST00000406420.3	37	c.1428	CCDS46228.1	2																																																																																			MFSD2B	-	superfamily_MFS_dom_general_subst_transpt		0.652	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MFSD2B	HGNC	protein_coding	OTTHUMT00000324307.1	C	NM_001080473		24247079	+1	no_errors	ENST00000338315	ensembl	human	known	70_37	silent	SNP	0.053	A
MPP2	4355	genome.wustl.edu	37	17	41956724	41956724	+	Silent	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr17:41956724G>A	ENST00000461854.1	-	13	1558	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	MPP2_ENST00000520305.1_Silent_p.F328F|MPP2_ENST00000523501.1_Silent_p.F456F|MPP2_ENST00000377184.3_Silent_p.F484F|MPP2_ENST00000536246.1_Silent_p.F456F|MPP2_ENST00000518766.1_Silent_p.F512F|MPP2_ENST00000269095.4_Silent_p.F467F			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	491	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.F467F(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GGGCCTCGATGAACACCACGT	0.582																																																	1	Substitution - coding silent(1)	cervix(1)											112.0	100.0	104.0					17																	41956724		2203	4300	6503	SO:0001819	synonymous_variant	4355				CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1473C>T	17.37:g.41956724G>A			B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.F491	ENST00000461854.1	37	c.1473		17																																																																																			MPP2	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.582	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	MPP2	HGNC	protein_coding	OTTHUMT00000258388.2	G	NM_005374		41956724	-1	no_errors	ENST00000461854	ensembl	human	known	70_37	silent	SNP	1.000	A
MS4A14	84689	genome.wustl.edu	37	11	60183756	60183756	+	Missense_Mutation	SNP	G	G	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr11:60183756G>T	ENST00000300187.6	+	5	1592	c.1315G>T	c.(1315-1317)Gat>Tat	p.D439Y	MS4A14_ENST00000395005.2_Missense_Mutation_p.D422Y|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.D472Y|MS4A14_ENST00000531787.1_Missense_Mutation_p.D327Y	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	439	Gln-rich.					integral component of membrane (GO:0016021)		p.D439Y(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GCAGCCCCCAGATCTTCAACC	0.413																																																	1	Substitution - Missense(1)	cervix(1)											76.0	76.0	76.0					11																	60183756		2203	4300	6503	SO:0001583	missense	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1315G>T	11.37:g.60183756G>T	ENSP00000300187:p.Asp439Tyr		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.D439Y	ENST00000300187.6	37	c.1315	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185358	0.38609	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.41400	1.0;2.21;1.01;2.58	3.55	2.62	0.31277	.	.	.	.	.	T	0.52869	0.1761	L	0.50333	1.59	0.09310	N	0.999992	D;D	0.76494	0.999;0.998	D;P	0.64237	0.923;0.84	T	0.36237	-0.9756	9	0.66056	D	0.02	0.0069	9.2303	0.37432	0.115:0.0:0.885:0.0	.	422;439	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	Y	327;439;422;472	ENSP00000437222:D327Y;ENSP00000300187:D439Y;ENSP00000378453:D422Y;ENSP00000433761:D472Y	ENSP00000300187:D439Y	D	+	1	0	MS4A14	59940332	0.009000	0.17119	0.001000	0.08648	0.008000	0.06430	0.710000	0.25748	0.785000	0.33685	0.650000	0.86243	GAT	MS4A14	-	NULL		0.413	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2	G			60183756	+1	no_errors	ENST00000300187	ensembl	human	known	70_37	missense	SNP	0.005	T
MTR	4548	genome.wustl.edu	37	1	236973894	236973894	+	Splice_Site	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr1:236973894C>T	ENST00000366577.5	+	5	895	c.501C>T	c.(499-501)atC>atT	p.I167I	MTR_ENST00000418145.2_Splice_Site_p.I223I|MTR_ENST00000535889.1_Splice_Site_p.I167I	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	167	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.I167I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ATAGGAACATCAGTGAGTAtt	0.428																																																	1	Substitution - coding silent(1)	cervix(1)											109.0	112.0	111.0					1																	236973894		2203	4300	6503	SO:0001630	splice_region_variant	4548			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.502+1C>T	1.37:g.236973894C>T			A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.I167	ENST00000366577.5	37	c.501	CCDS1614.1	1																																																																																			MTR	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_MetH,pfscan_S_MeTrfase,tigrfam_MetH		0.428	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	C	NM_000254	Silent	236973894	+1	no_errors	ENST00000366577	ensembl	human	known	70_37	silent	SNP	1.000	T
NFKBID	84807	genome.wustl.edu	37	19	36381329	36381329	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr19:36381329G>A	ENST00000396901.1	-	10	1243	c.670C>T	c.(670-672)Cag>Tag	p.Q224*	NFKBID_ENST00000352614.2_Nonsense_Mutation_p.Q376*|NFKBID_ENST00000340950.2_Nonsense_Mutation_p.Q61*|NFKBID_ENST00000606253.1_Nonsense_Mutation_p.Q224*	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	224					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)		p.Q224*(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						AGCAGCAGCTGAACCAGAGTG	0.612																																																	1	Substitution - Nonsense(1)	cervix(1)											71.0	76.0	74.0					19																	36381329		2021	4174	6195	SO:0001587	stop_gained	84807			AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"""Ankyrin repeat domain containing"""	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.670C>T	19.37:g.36381329G>A	ENSP00000380109:p.Gln224*		Q8NI39|Q9BRG9	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q376*	ENST00000396901.1	37	c.1126	CCDS42552.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.526305	0.96431	.	.	ENSG00000167604	ENST00000352614;ENST00000396901;ENST00000340950	.	.	.	4.77	3.72	0.42706	.	0.416407	0.25756	N	0.028510	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	10.1565	0.42825	0.0:0.0:0.6377:0.3623	.	.	.	.	X	376;224;61	.	ENSP00000343093:Q61X	Q	-	1	0	NFKBID	41073169	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	2.816000	0.48026	0.967000	0.38186	0.462000	0.41574	CAG	NFKBID	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.612	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NFKBID	HGNC	protein_coding	OTTHUMT00000452927.3	G	NM_032721		36381329	-1	no_errors	ENST00000352614	ensembl	human	known	70_37	nonsense	SNP	0.982	A
POM121C	100101267	genome.wustl.edu	37	7	75045895	75045895	+	IGR	SNP	G	G	A	rs7055		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr7:75045895G>A	ENST00000257665.5	-	0	5700				NSUN5P1_ENST00000393633.2_RNA			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C						mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GCTCCAGGCTGACTCCTTCCT	0.587																																																	0													102.0	100.0	101.0					7																	75045895		2202	4300	6502	SO:0001628	intergenic_variant	155400				CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238		7.37:g.75045895G>A			O75115|Q9Y2N3|Q9Y4S7	RNA	SNP	-	NULL	ENST00000257665.5	37	NULL		7																																																																																			NSUN5P1	-	-		0.587	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	NSUN5P1	HGNC	protein_coding	OTTHUMT00000343919.2	G	NM_001099415		75045895	+1	no_errors	ENST00000393633	ensembl	human	known	70_37	rna	SNP	0.000	A
NRCAM	4897	genome.wustl.edu	37	7	107848053	107848053	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr7:107848053C>T	ENST00000425651.2	-	10	1125	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	NRCAM_ENST00000351718.4_Missense_Mutation_p.E370K|NRCAM_ENST00000379024.4_Missense_Mutation_p.E357K|NRCAM_ENST00000379022.4_Missense_Mutation_p.E376K|NRCAM_ENST00000413765.2_Missense_Mutation_p.E357K|NRCAM_ENST00000379028.3_Missense_Mutation_p.E376K	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	376	Ig-like 4.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.E370K(1)|p.E376K(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GTCCCATCCTCTCCTGGGGAC	0.443																																																	2	Substitution - Missense(2)	cervix(2)											90.0	84.0	86.0					7																	107848053		2203	4300	6503	SO:0001583	missense	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1126G>A	7.37:g.107848053C>T	ENSP00000401244:p.Glu376Lys		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E376K	ENST00000425651.2	37	c.1126	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.043315	0.97231	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701	T;T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;1.16	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88894	0.6561	L	0.58354	1.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.991;0.998;0.992;0.986;0.994	D	0.88708	0.3220	10	0.87932	D	0	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	376;357;357;370;376	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	K	376;376;357;376;370;357;376;376;370;370	ENSP00000368314:E376K;ENSP00000407858:E357K;ENSP00000325269:E370K;ENSP00000368310:E357K;ENSP00000401244:E376K;ENSP00000368308:E376K;ENSP00000390421:E370K	ENSP00000325269:E370K	E	-	1	0	NRCAM	107635289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.687000	0.84139	2.894000	0.99253	0.655000	0.94253	GAG	NRCAM	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.443	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	C	NM_001037132		107848053	-1	no_errors	ENST00000379028	ensembl	human	known	70_37	missense	SNP	1.000	T
NUPL1	9818	genome.wustl.edu	37	13	25894700	25894700	+	Missense_Mutation	SNP	C	C	G			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr13:25894700C>G	ENST00000381736.3	+	8	993	c.743C>G	c.(742-744)cCt>cGt	p.P248R	NUPL1_ENST00000463407.1_Missense_Mutation_p.P248R|NUPL1_ENST00000466694.1_Intron|NUPL1_ENST00000381718.3_Missense_Mutation_p.P236R	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	248	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)	p.P248R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		GAAAATCTACCTCCTGTCATC	0.323																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)												1	Substitution - Missense(1)	cervix(1)											64.0	68.0	67.0					13																	25894700		2203	4299	6502	SO:0001583	missense	9818			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.743C>G	13.37:g.25894700C>G	ENSP00000371155:p.Pro248Arg		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	NULL	p.P248R	ENST00000381736.3	37	c.743	CCDS9314.1	13	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752798	0.89753	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747;ENST00000394327	T;T;T;T;T	0.67345	0.4;0.49;0.48;0.55;-0.26	5.73	5.73	0.89815	.	0.094648	0.85682	D	0.000000	T	0.82263	0.4999	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79108	0.989;0.992;0.974	T	0.83082	-0.0137	10	0.87932	D	0	-9.2072	20.0726	0.97729	0.0:1.0:0.0:0.0	.	236;248;248	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	R	248;236;225;248;236;248;195	ENSP00000371155:P248R;ENSP00000418555:P248R;ENSP00000371137:P236R;ENSP00000371166:P248R;ENSP00000408147:P195R	ENSP00000318459:P225R	P	+	2	0	NUPL1	24792700	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.105000	0.77031	2.753000	0.94483	0.579000	0.79373	CCT	NUPL1	-	NULL		0.323	NUPL1-001	KNOWN	basic|CCDS	protein_coding	NUPL1	HGNC	protein_coding	OTTHUMT00000044228.2	C			25894700	+1	no_errors	ENST00000381736	ensembl	human	known	70_37	missense	SNP	1.000	G
OAS1	4938	genome.wustl.edu	37	12	113354509	113354509	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr12:113354509G>A	ENST00000202917.5	+	4	1113	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	OAS1_ENST00000452357.2_Missense_Mutation_p.E284K|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000551241.1_Missense_Mutation_p.E284K|OAS1_ENST00000445409.2_Missense_Mutation_p.E284K	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	284					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.E284K(3)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CCCCATTATTGAAAAGTACCT	0.453																																																	3	Substitution - Missense(3)	cervix(3)											90.0	88.0	89.0					12																	113354509		2203	4300	6503	SO:0001583	missense	4938			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.850G>A	12.37:g.113354509G>A	ENSP00000202917:p.Glu284Lys		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.E284K	ENST00000202917.5	37	c.850	CCDS41838.1	12	.	.	.	.	.	.	.	.	.	.	G	5.163	0.215597	0.09810	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000551241;ENST00000377508;ENST00000550689;ENST00000553152	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	4.82	-5.64	0.02466	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	4.141010	0.00589	N	0.000344	T	0.18299	0.0439	N	0.05012	-0.13	0.09310	N	0.999999	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.002;0.002;0.004;0.002;0.002	T	0.24835	-1.0149	10	0.08381	T	0.77	1.1971	6.9572	0.24578	0.614:0.0:0.2274:0.1586	.	284;284;284;284;284	E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;OAS1_HUMAN;.;.	K	284;284;284;284;284;280;30	ENSP00000202917:E284K;ENSP00000388001:E284K;ENSP00000415721:E284K;ENSP00000448790:E284K;ENSP00000448348:E280K;ENSP00000449053:E30K	ENSP00000202917:E284K	E	+	1	0	OAS1	111838892	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.852000	0.04308	-1.639000	0.01527	-1.987000	0.00451	GAA	OAS1	-	pfam_2-5-oligoAdlate_synth_1_dom2/C		0.453	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OAS1	HGNC	protein_coding	OTTHUMT00000405896.2	G			113354509	+1	no_errors	ENST00000445409	ensembl	human	known	70_37	missense	SNP	0.000	A
OIT3	170392	genome.wustl.edu	37	10	74684331	74684331	+	Missense_Mutation	SNP	G	G	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr10:74684331G>T	ENST00000334011.5	+	7	1514	c.1296G>T	c.(1294-1296)ttG>ttT	p.L432F		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	432	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.L432L(1)|p.L432F(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TGGAAAGCTTGGTGGAGAGCT	0.557																																					Colon(7;19 345 13446 17537)												2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(1)|lung(1)											83.0	72.0	76.0					10																	74684331		2203	4300	6503	SO:0001583	missense	170392				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1296G>T	10.37:g.74684331G>T	ENSP00000333900:p.Leu432Phe		A0AVP3|Q8N1M8	Missense_Mutation	SNP	pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.L432F	ENST00000334011.5	37	c.1296	CCDS7318.1	10	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573549	0.45902	.	.	ENSG00000138315	ENST00000334011	D	0.82344	-1.6	5.5	4.6	0.57074	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.000000	0.45126	D	0.000389	T	0.65091	0.2658	N	0.10809	0.05	0.47819	D	0.999529	P	0.34757	0.467	B	0.36719	0.231	T	0.59963	-0.7355	10	0.12766	T	0.61	-14.4024	8.048	0.30562	0.1436:0.1308:0.7256:0.0	.	432	Q8WWZ8	OIT3_HUMAN	F	432	ENSP00000333900:L432F	ENSP00000333900:L432F	L	+	3	2	OIT3	74354337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.979000	0.40608	1.322000	0.45245	0.563000	0.77884	TTG	OIT3	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom		0.557	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OIT3	HGNC	protein_coding	OTTHUMT00000048596.1	G	NM_152635		74684331	+1	no_errors	ENST00000334011	ensembl	human	known	70_37	missense	SNP	1.000	T
OR5D16	390144	genome.wustl.edu	37	11	55606854	55606854	+	Missense_Mutation	SNP	G	G	C			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr11:55606854G>C	ENST00000378396.1	+	1	627	c.627G>C	c.(625-627)gaG>gaC	p.E209D		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E209D(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CTTTTAATGAGATAAGCACAC	0.433																																																	1	Substitution - Missense(1)	cervix(1)											205.0	171.0	183.0					11																	55606854		2201	4296	6497	SO:0001583	missense	390144			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.627G>C	11.37:g.55606854G>C	ENSP00000367649:p.Glu209Asp		Q6IF65|Q96RB4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.E209D	ENST00000378396.1	37	c.627	CCDS31512.1	11	.	.	.	.	.	.	.	.	.	.	.	15.32	2.799422	0.50208	.	.	ENSG00000205029	ENST00000378396	T	0.36699	1.24	4.47	1.44	0.22558	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42200	0.1192	M	0.68317	2.08	0.09310	N	1	B	0.33494	0.414	P	0.46049	0.502	T	0.40646	-0.9552	9	0.12766	T	0.61	0.2984	8.7953	0.34876	0.2627:0.0:0.7373:0.0	.	209	Q8NGK9	OR5DG_HUMAN	D	209	ENSP00000367649:E209D	ENSP00000367649:E209D	E	+	3	2	OR5D16	55363430	0.000000	0.05858	0.006000	0.13384	0.938000	0.57974	-0.885000	0.04161	0.454000	0.26884	0.530000	0.56133	GAG	OR5D16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.433	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D16	HGNC	protein_coding	OTTHUMT00000334506.1	G	NM_001005496		55606854	+1	no_errors	ENST00000378396	ensembl	human	known	70_37	missense	SNP	0.000	C
OR5W2	390148	genome.wustl.edu	37	11	55681565	55681565	+	Missense_Mutation	SNP	C	C	T	rs148084259		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr11:55681565C>T	ENST00000344514.1	-	1	493	c.494G>A	c.(493-495)cGc>cAc	p.R165H		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R165H(4)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAAGCATAGGCGGAAGGCCAG	0.428																																					Melanoma(48;171 1190 15239 43886 49348)												4	Substitution - Missense(4)	cervix(1)|large_intestine(1)|stomach(1)|kidney(1)						C	HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	87.0	77.0	80.0		494	1.5	0.0	11	dbSNP_134	80	0,8592		0,0,4296	yes	missense	OR5W2	NM_001001960.1	29	0,2,6495	TT,TC,CC		0.0,0.0454,0.0154	benign	165/311	55681565	2,12992	2201	4296	6497	SO:0001583	missense	390148			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.494G>A	11.37:g.55681565C>T	ENSP00000342448:p.Arg165His			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R165H	ENST00000344514.1	37	c.494	CCDS31513.1	11	.	.	.	.	.	.	.	.	.	.	C	3.073	-0.190656	0.06299	4.54E-4	0.0	ENSG00000187612	ENST00000344514	T	0.00169	8.63	4.77	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	0.602095	0.13398	N	0.390838	T	0.00144	0.0004	L	0.35341	1.055	0.09310	N	1	B	0.13145	0.007	B	0.15870	0.014	T	0.18085	-1.0348	10	0.41790	T	0.15	.	5.688	0.17813	0.0:0.5609:0.1582:0.2809	.	165	Q8NH69	OR5W2_HUMAN	H	165	ENSP00000342448:R165H	ENSP00000342448:R165H	R	-	2	0	OR5W2	55438141	0.000000	0.05858	0.019000	0.16419	0.048000	0.14542	-3.276000	0.00530	0.435000	0.26365	0.549000	0.68633	CGC	OR5W2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.428	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5W2	HGNC	protein_coding	OTTHUMT00000391523.1	C	NM_001001960		55681565	-1	no_errors	ENST00000344514	ensembl	human	known	70_37	missense	SNP	0.000	T
OR6C70	390327	genome.wustl.edu	37	12	55863491	55863491	+	Silent	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr12:55863491G>A	ENST00000327335.4	-	1	431	c.432C>T	c.(430-432)ttC>ttT	p.F144F	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F144F(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						CCCAAGAACTGAATACAAGCT	0.388																																																	1	Substitution - coding silent(1)	cervix(1)											72.0	74.0	73.0					12																	55863491		2203	4300	6503	SO:0001819	synonymous_variant	390327				CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.432C>T	12.37:g.55863491G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.F144	ENST00000327335.4	37	c.432	CCDS31825.1	12																																																																																			OR6C70	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.388	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C70	HGNC	protein_coding	OTTHUMT00000411820.1	G			55863491	-1	no_errors	ENST00000327335	ensembl	human	known	70_37	silent	SNP	0.000	A
PARN	5073	genome.wustl.edu	37	16	14540804	14540804	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr16:14540804G>A	ENST00000437198.2	-	23	1946	c.1805C>T	c.(1804-1806)tCa>tTa	p.S602L	PARN_ENST00000341484.7_Missense_Mutation_p.S541L|PARN_ENST00000539279.1_Missense_Mutation_p.S427L|PARN_ENST00000420015.2_Missense_Mutation_p.S556L	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	602					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)	p.S602L(2)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						CCTTCCCTCTGAGAGGGGCTC	0.512																																																	2	Substitution - Missense(2)	cervix(2)											116.0	113.0	114.0					16																	14540804		1854	4094	5948	SO:0001583	missense	5073			AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"""deadenylation nuclease"""	604212	"""poly(A)-specific ribonuclease (deadenylation nuclease)"""			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.1805C>T	16.37:g.14540804G>A	ENSP00000387911:p.Ser602Leu		B2RCB3|B4DDG8|B4DWR4|B4E1H6	Missense_Mutation	SNP	pfam_RNase_CAF1,pfam_PolyA-riboNase_RNA_binding,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd	p.S602L	ENST00000437198.2	37	c.1805	CCDS45419.1	16	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249472	0.59212	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000539279	.	.	.	5.65	4.69	0.59074	.	0.728951	0.13283	N	0.399634	T	0.23766	0.0575	N	0.08118	0	0.28128	N	0.930337	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.04752	-1.0929	9	0.30078	T	0.28	-0.988	11.3443	0.49552	0.0843:0.0:0.9157:0.0	.	427;556;602	B4DSB0;B4DWR4;O95453	.;.;PARN_HUMAN	L	602;541;556;427	.	ENSP00000345456:S541L	S	-	2	0	PARN	14448305	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.138000	0.58017	2.827000	0.97445	0.650000	0.86243	TCA	PARN	-	NULL		0.512	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARN	HGNC	protein_coding	OTTHUMT00000422383.1	G	NM_002582		14540804	-1	no_errors	ENST00000437198	ensembl	human	known	70_37	missense	SNP	1.000	A
PBX3	5090	genome.wustl.edu	37	9	128728131	128728131	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr9:128728131G>A	ENST00000373489.5	+	9	1250	c.1234G>A	c.(1234-1236)Gca>Aca	p.A412T	PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000342287.5_3'UTR|PBX3_ENST00000373487.4_Missense_Mutation_p.A433T|PBX3_ENST00000373483.2_Missense_Mutation_p.A231T|PBX3_ENST00000447726.2_Missense_Mutation_p.A337T	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	412					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A412T(1)		biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						CTGGCAGGACGCAACAACTCC	0.478																																																	1	Substitution - Missense(1)	cervix(1)											231.0	208.0	216.0					9																	128728131		2203	4300	6503	SO:0001583	missense	5090				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.1234G>A	9.37:g.128728131G>A	ENSP00000362588:p.Ala412Thr		E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.A412T	ENST00000373489.5	37	c.1234	CCDS6865.1	9	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464255	0.43736	.	.	ENSG00000167081	ENST00000373489;ENST00000373487;ENST00000373483;ENST00000447726	D;T;D;D	0.88741	-2.22;1.86;-2.34;-2.42	6.03	5.08	0.68730	.	0.059154	0.64402	D	0.000002	D	0.87095	0.6092	M	0.70275	2.135	0.58432	D	0.999996	P;P	0.44429	0.506;0.835	B;B	0.35073	0.085;0.195	D	0.88296	0.2946	10	0.48119	T	0.1	.	16.8074	0.85709	0.0:0.1284:0.8716:0.0	.	433;412	Q5JS98;P40426	.;PBX3_HUMAN	T	412;433;231;337	ENSP00000362588:A412T;ENSP00000362586:A433T;ENSP00000362582:A231T;ENSP00000387456:A337T	ENSP00000362582:A231T	A	+	1	0	PBX3	127767952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.563000	0.82314	2.861000	0.98227	0.655000	0.94253	GCA	PBX3	-	NULL		0.478	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PBX3	HGNC	protein_coding	OTTHUMT00000417765.1	G			128728131	+1	no_errors	ENST00000373489	ensembl	human	known	70_37	missense	SNP	1.000	A
PCDHA12	56137	genome.wustl.edu	37	5	140257039	140257039	+	Missense_Mutation	SNP	C	C	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr5:140257039C>A	ENST00000398631.2	+	1	1982	c.1982C>A	c.(1981-1983)tCc>tAc	p.S661Y	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	661	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S661Y(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCTGACGTCCACGGCCACG	0.692																																					Pancreas(113;759 1672 13322 24104 50104)												1	Substitution - Missense(1)	cervix(1)											69.0	72.0	71.0					5																	140257039		2203	4299	6502	SO:0001583	missense	56137			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1982C>A	5.37:g.140257039C>A	ENSP00000381628:p.Ser661Tyr		O75278|Q2M1N8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S661Y	ENST00000398631.2	37	c.1982	CCDS47285.1	5	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136662	0.37728	.	.	ENSG00000251664	ENST00000398631	T	0.55588	0.51	4.81	3.93	0.45458	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69468	0.3114	M	0.92169	3.28	0.28254	N	0.925139	P;P	0.47484	0.46;0.896	B;P	0.47891	0.269;0.56	T	0.69558	-0.5113	9	0.87932	D	0	.	14.06	0.64793	0.152:0.8479:0.0:0.0	.	661;661	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	Y	661	ENSP00000381628:S661Y	ENSP00000381628:S661Y	S	+	2	0	PCDHA12	140237223	0.093000	0.21703	0.179000	0.23059	0.043000	0.13939	3.372000	0.52387	0.998000	0.38996	0.561000	0.74099	TCC	PCDHA12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.692	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	C	NM_018903		140257039	+1	no_errors	ENST00000398631	ensembl	human	known	70_37	missense	SNP	0.909	A
PCDHB6	56130	genome.wustl.edu	37	5	140531540	140531540	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr5:140531540G>A	ENST00000231136.1	+	1	1702	c.1702G>A	c.(1702-1704)Gcg>Acg	p.A568T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A432T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	568	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAACGGCTCCGCGCCCTGCAC	0.716																																																	0													15.0	20.0	18.0					5																	140531540		2140	4250	6390	SO:0001583	missense	56130			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1702G>A	5.37:g.140531540G>A	ENSP00000231136:p.Ala568Thr		B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A568T	ENST00000231136.1	37	c.1702	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466307	0.43839	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.60797	0.16;0.16	4.19	3.23	0.37069	Cadherin-like (1);	.	.	.	.	T	0.52008	0.1708	N	0.16708	0.43	0.21740	N	0.99957	D	0.67145	0.996	P	0.53035	0.716	T	0.45279	-0.9272	9	0.87932	D	0	.	11.5683	0.50818	0.0:0.0:0.7314:0.2686	.	568	Q9Y5E3	PCDB6_HUMAN	T	432;568	ENSP00000438466:A432T;ENSP00000231136:A568T	ENSP00000231136:A568T	A	+	1	0	PCDHB6	140511724	0.000000	0.05858	0.992000	0.48379	0.951000	0.60555	-0.877000	0.04197	2.047000	0.60756	0.556000	0.70494	GCG	PCDHB6	-	superfamily_Cadherin-like		0.716	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	G	NM_018939		140531540	+1	no_errors	ENST00000231136	ensembl	human	known	70_37	missense	SNP	0.456	A
PCSK4	54760	genome.wustl.edu	37	19	1487169	1487169	+	Missense_Mutation	SNP	G	G	A	rs527983571		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr19:1487169G>A	ENST00000300954.5	-	7	887	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	CTB-25B13.6_ENST00000585643.1_RNA|PCSK4_ENST00000587784.1_5'Flank	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4									p.R276C(1)		cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		AAGGCCTCGCGGGTGAGGATG	0.721													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13729	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	cervix(1)											18.0	21.0	20.0					19																	1487169		2196	4293	6489	SO:0001583	missense	54760			AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.826C>T	19.37:g.1487169G>A	ENSP00000300954:p.Arg276Cys			Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel	p.R276C	ENST00000300954.5	37	c.826	CCDS12069.2	19	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012939	0.54468	.	.	ENSG00000115257	ENST00000300954;ENST00000441747	D	0.88046	-2.33	3.63	2.46	0.29980	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	1.265160	0.05858	U	0.622503	D	0.91965	0.7455	M	0.86028	2.79	0.09310	N	1	D;D	0.61080	0.989;0.981	P;P	0.56788	0.671;0.806	T	0.78628	-0.2130	10	0.87932	D	0	.	6.4075	0.21672	0.0:0.3266:0.4932:0.1802	.	276;88	Q6UW60;B3KQ28	PCSK4_HUMAN;.	C	276;88	ENSP00000300954:R276C	ENSP00000300954:R276C	R	-	1	0	PCSK4	1438169	0.002000	0.14202	0.604000	0.28916	0.793000	0.44817	1.337000	0.33862	1.742000	0.51746	0.491000	0.48974	CGC	PCSK4	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53		0.721	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK4	HGNC	protein_coding	OTTHUMT00000449703.1	G	NM_017573		1487169	-1	no_errors	ENST00000300954	ensembl	human	known	70_37	missense	SNP	0.043	A
PDCD11	22984	genome.wustl.edu	37	10	105201705	105201705	+	Silent	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr10:105201705G>A	ENST00000369797.3	+	31	4774	c.4680G>A	c.(4678-4680)gaG>gaA	p.E1560E		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1560					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.E1560E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CAGACAGCGAGGAGGATGAGA	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											59.0	70.0	66.0					10																	105201705		2203	4300	6503	SO:0001819	synonymous_variant	22984			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4680G>A	10.37:g.105201705G>A			Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	p.E1560	ENST00000369797.3	37	c.4680	CCDS31276.1	10																																																																																			PDCD11	-	NULL		0.572	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	HGNC	protein_coding	OTTHUMT00000050151.1	G			105201705	+1	no_errors	ENST00000369797	ensembl	human	known	70_37	silent	SNP	0.943	A
PKHD1	5314	genome.wustl.edu	37	6	51483976	51483976	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr6:51483976C>T	ENST00000371117.3	-	67	12403	c.12128G>A	c.(12127-12129)aGc>aAc	p.S4043N	RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA|RP3-335N17.2_ENST00000587000.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	4043					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.S4043N(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAGCCCCAAGCTGCCACTTTG	0.547																																																	1	Substitution - Missense(1)	cervix(1)											45.0	46.0	46.0					6																	51483976		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.12128G>A	6.37:g.51483976C>T	ENSP00000360158:p.Ser4043Asn		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.S4043N	ENST00000371117.3	37	c.12128	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	2.498	-0.315847	0.05422	.	.	ENSG00000170927	ENST00000371117	D	0.86030	-2.06	5.27	0.912	0.19349	.	0.877880	0.09933	N	0.737024	T	0.36220	0.0959	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45585	-0.9251	10	0.02654	T	1	.	6.4198	0.21738	0.0:0.5384:0.0:0.4616	.	4043	P08F94	PKHD1_HUMAN	N	4043	ENSP00000360158:S4043N	ENSP00000360158:S4043N	S	-	2	0	PKHD1	51591935	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.202000	0.09451	0.325000	0.23359	-0.137000	0.14449	AGC	PKHD1	-	NULL		0.547	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	C	NM_138694		51483976	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	missense	SNP	0.000	T
PORCN	64840	genome.wustl.edu	37	X	48374529	48374529	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chrX:48374529C>T	ENST00000326194.6	+	12	1211	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	PORCN_ENST00000361988.3_Missense_Mutation_p.R379C|PORCN_ENST00000537758.1_Missense_Mutation_p.R390C|PORCN_ENST00000359882.4_Missense_Mutation_p.R384C|PORCN_ENST00000355961.4_Missense_Mutation_p.R385C|PORCN_ENST00000355092.3_Missense_Mutation_p.R384C|PORCN_ENST00000367574.4_Missense_Mutation_p.R308C	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	390					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)	p.R390C(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCACCAGCATCGCTTGGTGAG	0.572																																																	1	Substitution - Missense(1)	cervix(1)											58.0	50.0	53.0					X																	48374529		2203	4300	6503	SO:0001583	missense	64840			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.1168C>T	X.37:g.48374529C>T	ENSP00000322304:p.Arg390Cys		B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	pfam_MBOAT_fam	p.R390C	ENST00000326194.6	37	c.1168	CCDS14299.1	X	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097944	0.76870	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.31	5.31	0.75309	.	0.058005	0.64402	D	0.000002	T	0.75049	0.3797	L	0.48642	1.525	0.48632	D	0.999685	D;D;D;D;D	0.76494	0.999;0.998;0.991;0.999;0.999	P;P;P;P;P	0.61658	0.854;0.892;0.892;0.806;0.854	T	0.74259	-0.3723	10	0.39692	T	0.17	-10.5884	10.543	0.45043	0.1928:0.8072:0.0:0.0	.	384;390;308;379;385	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	C	384;390;308;385;379;390;384	ENSP00000352946:R384C;ENSP00000446401:R390C;ENSP00000356546:R308C;ENSP00000348233:R385C;ENSP00000354978:R379C;ENSP00000322304:R390C;ENSP00000347207:R384C	ENSP00000322304:R390C	R	+	1	0	PORCN	48259473	.	.	1.000000	0.80357	0.995000	0.86356	.	.	2.200000	0.70718	0.529000	0.55759	CGC	PORCN	-	pfam_MBOAT_fam		0.572	PORCN-011	KNOWN	basic|CCDS	protein_coding	PORCN	HGNC	protein_coding	OTTHUMT00000356990.1	C	NM_022825		48374529	+1	no_errors	ENST00000326194	ensembl	human	known	70_37	missense	SNP	1.000	T
PRUNE2	158471	genome.wustl.edu	37	9	79328481	79328481	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr9:79328481G>A	ENST00000376718.3	-	7	1036	c.913C>T	c.(913-915)Cag>Tag	p.Q305*	PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	305					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.Q305*(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGCTCACCTGACTGCACAGC	0.532																																																	1	Substitution - Nonsense(1)	cervix(1)											77.0	76.0	76.0					9																	79328481		1568	3582	5150	SO:0001587	stop_gained	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.913C>T	9.37:g.79328481G>A	ENSP00000365908:p.Gln305*		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Nonsense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.Q305*	ENST00000376718.3	37	c.913	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.331926	0.98217	.	.	ENSG00000106772	ENST00000376718;ENST00000422033	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	305;304	.	ENSP00000365908:Q305X	Q	-	1	0	PRUNE2	78518301	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.045000	0.76585	2.885000	0.99019	0.655000	0.94253	CAG	PRUNE2	-	pfam_DHHA2		0.532	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	G	NM_138818		79328481	-1	no_errors	ENST00000376718	ensembl	human	novel	70_37	nonsense	SNP	1.000	A
PTEN	5728	genome.wustl.edu	37	10	89717615	89717615	+	Nonsense_Mutation	SNP	C	C	T	rs121909227		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr10:89717615C>T	ENST00000371953.3	+	7	1997	c.640C>T	c.(640-642)Cag>Tag	p.Q214*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	214	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.Q214*(10)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.Q214fs*1(1)|p.?(1)|p.Q214fs*22(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGCAGATCCTCAGTTTGTGGT	0.388		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	60	Whole gene deletion(37)|Substitution - Nonsense(10)|Deletion - Frameshift(10)|Deletion - In frame(1)|Complex - frameshift(1)|Unknown(1)	prostate(16)|central_nervous_system(11)|endometrium(8)|skin(7)|lung(5)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|cervix(1)|soft_tissue(1)	GRCh37	CM981672	PTEN	M	rs121909227						112.0	99.0	103.0					10																	89717615		2203	4300	6503	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.640C>T	10.37:g.89717615C>T	ENSP00000361021:p.Gln214*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Q214*	ENST00000371953.3	37	c.640	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	49	15.574246	0.99838	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.67	5.67	0.87782	.	0.164422	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.2072	19.7712	0.96366	0.0:1.0:0.0:0.0	.	.	.	.	X	214	.	.	Q	+	1	0	PTEN	89707595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.452000	0.80683	2.677000	0.91161	0.585000	0.79938	CAG	PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom		0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	C	NM_000314		89717615	+1	no_errors	ENST00000371953	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PTPRN2	5799	genome.wustl.edu	37	7	157926524	157926524	+	Silent	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr7:157926524G>A	ENST00000389418.4	-	9	1410	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	PTPRN2_ENST00000389413.3_Silent_p.A467A|PTPRN2_ENST00000409483.1_Silent_p.A429A|PTPRN2_ENST00000404321.2_Silent_p.A490A|PTPRN2_ENST00000389416.4_Silent_p.A450A	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	467					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A467A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CAAACGCAGCGGCCCCGGGCT	0.632																																																	1	Substitution - coding silent(1)	cervix(1)											44.0	50.0	48.0					7																	157926524		2203	4300	6503	SO:0001819	synonymous_variant	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1401C>T	7.37:g.157926524G>A			E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A490	ENST00000389418.4	37	c.1470	CCDS5947.1	7																																																																																			PTPRN2	-	NULL		0.632	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	G			157926524	-1	no_errors	ENST00000404321	ensembl	human	known	70_37	silent	SNP	0.000	A
RAB35	11021	genome.wustl.edu	37	12	120534993	120534993	+	3'UTR	DEL	G	G	-			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr12:120534993delG	ENST00000229340.5	-	0	850				RAB35_ENST00000432953.2_Frame_Shift_Del_p.P19fs|RAB35_ENST00000534951.1_3'UTR|RAB35_ENST00000543364.1_5'Flank	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family						antigen processing and presentation (GO:0019882)|cellular response to nerve growth factor stimulus (GO:1990090)|cytokinesis (GO:0000910)|endosomal transport (GO:0016197)|GTP catabolic process (GO:0006184)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|protein localization (GO:0008104)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cell projection membrane (GO:0031253)|clathrin-coated endocytic vesicle (GO:0045334)|coated pit (GO:0005905)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		GAACCTCCGTGGGCCTCGGGC	0.562																																																	0																																										SO:0001624	3_prime_UTR_variant	11021			X79781	CCDS41846.1, CCDS53836.1	12q24	2008-07-28			ENSG00000111737	ENSG00000111737		"""RAB, member RAS oncogene"""	9774	protein-coding gene	gene with protein product		604199					Standard	NM_001167606		Approved	H-ray	uc009zww.2	Q15286	OTTHUMG00000169159	ENST00000229340.5:c.*56C>-	12.37:g.120534993delG			B2R6E0|B4E390	Frame_Shift_Del	DEL	NULL	p.T20fs	ENST00000229340.5	37	c.57	CCDS41846.1	12																																																																																			RAB35	-	NULL		0.562	RAB35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB35	HGNC	protein_coding	OTTHUMT00000402599.2	G			120534993	-1	no_errors	ENST00000432953	ensembl	human	known	70_37	frame_shift_del	DEL	0.124	-
REPIN1	29803	genome.wustl.edu	37	7	150069696	150069696	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr7:150069696G>A	ENST00000425389.2	+	1	1444	c.1366G>A	c.(1366-1368)Gat>Aat	p.D456N	REPIN1_ENST00000489432.2_Missense_Mutation_p.D513N|REPIN1_ENST00000540729.1_Missense_Mutation_p.D456N|REPIN1_ENST00000479668.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000397281.2_Missense_Mutation_p.D456N|REPIN1_ENST00000444957.1_Missense_Mutation_p.D456N	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	456					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D456N(2)|p.D513N(2)		cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCACGCCCCCGATCGGCCCTT	0.731																																																	4	Substitution - Missense(4)	cervix(2)|lung(2)											16.0	21.0	20.0					7																	150069696		2154	4246	6400	SO:0001583	missense	29803			AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1366G>A	7.37:g.150069696G>A	ENSP00000388287:p.Asp456Asn		C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D513N	ENST00000425389.2	37	c.1537	CCDS43677.1	7	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339800	0.41398	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	4.11	4.11	0.48088	Zinc finger, C2H2 (1);	.	.	.	.	T	0.13415	0.0325	L	0.31420	0.93	0.80722	D	1	P;P	0.37038	0.579;0.486	B;B	0.33196	0.159;0.079	T	0.09143	-1.0688	9	0.87932	D	0	-10.6122	13.8973	0.63781	0.0:0.0:1.0:0.0	.	513;456	C9J3L7;Q9BWE0	.;REPI1_HUMAN	N	456;456;456;513;456	ENSP00000445016:D456N;ENSP00000380451:D456N;ENSP00000407714:D456N;ENSP00000417291:D513N;ENSP00000388287:D456N	ENSP00000380451:D456N	D	+	1	0	REPIN1	149700629	0.522000	0.26266	0.966000	0.40874	0.495000	0.33615	2.295000	0.43576	2.142000	0.66516	0.462000	0.41574	GAT	REPIN1	-	pfscan_Znf_C2H2		0.731	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	REPIN1	HGNC	protein_coding	OTTHUMT00000376940.1	G	NM_014374		150069696	+1	no_errors	ENST00000489432	ensembl	human	known	70_37	missense	SNP	0.994	A
RNF214	257160	genome.wustl.edu	37	11	117109497	117109497	+	Silent	SNP	A	A	C			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr11:117109497A>C	ENST00000531452.1	+	3	334	c.288A>C	c.(286-288)acA>acC	p.T96T	RNF214_ENST00000300650.4_Silent_p.T96T|RNF214_ENST00000531287.1_Intron|RNF214_ENST00000530849.1_Intron	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	96							zinc ion binding (GO:0008270)	p.T96T(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TGATAGCCACAGCCCTTTGTC	0.537																																																	1	Substitution - coding silent(1)	cervix(1)											124.0	135.0	131.0					11																	117109497		1988	4154	6142	SO:0001819	synonymous_variant	257160			AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.288A>C	11.37:g.117109497A>C			B2RUW0|B4DTD1	Silent	SNP	pfscan_Znf_RING	p.T96	ENST00000531452.1	37	c.288	CCDS41720.1	11																																																																																			RNF214	-	NULL		0.537	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF214	HGNC	protein_coding	OTTHUMT00000392884.1	A	NM_001077239		117109497	+1	no_errors	ENST00000300650	ensembl	human	known	70_37	silent	SNP	1.000	C
RPH3A	22895	genome.wustl.edu	37	12	113266130	113266130	+	Missense_Mutation	SNP	G	G	C			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr12:113266130G>C	ENST00000389385.4	+	3	504	c.7G>C	c.(7-9)Gac>Cac	p.D3H	RPH3A_ENST00000543106.2_Missense_Mutation_p.D3H|RPH3A_ENST00000548866.1_Missense_Mutation_p.D3H|RPH3A_ENST00000420983.2_Missense_Mutation_p.D3H|RPH3A_ENST00000551052.1_Missense_Mutation_p.D3H|RPH3A_ENST00000447659.2_Missense_Mutation_p.D3H|RPH3A_ENST00000415485.3_Missense_Mutation_p.D3H	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	3					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.D3H(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TACTATGACTGACACCGTGTT	0.483																																																	1	Substitution - Missense(1)	cervix(1)											191.0	163.0	173.0					12																	113266130		2203	4300	6503	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.7G>C	12.37:g.113266130G>C	ENSP00000374036:p.Asp3His		B7Z3C3|Q96AE0	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.D3H	ENST00000389385.4	37	c.7	CCDS44979.1	12	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965853	0.74131	.	.	ENSG00000089169	ENST00000549736;ENST00000548197;ENST00000547686;ENST00000543106;ENST00000551593;ENST00000546426;ENST00000551748;ENST00000546703;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000447659;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.79247	-0.71;-0.71;-1.19;-0.71;-0.71;-1.25;-0.71	5.7	5.7	0.88788	Rabphilin-3A effector, zinc-binding (1);	0.292675	0.29028	N	0.013380	D	0.86372	0.5917	M	0.62723	1.935	0.44515	D	0.997463	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	D	0.87097	0.2176	10	0.87932	D	0	.	15.3248	0.74150	0.0:0.0:1.0:0.0	.	3;3;3;3	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	H	3	ENSP00000440384:D3H;ENSP00000374036:D3H;ENSP00000413254:D3H;ENSP00000448297:D3H;ENSP00000405357:D3H;ENSP00000450347:D3H;ENSP00000408889:D3H	ENSP00000374036:D3H	D	+	1	0	RPH3A	111750513	0.999000	0.42202	0.965000	0.40720	0.794000	0.44872	4.419000	0.59835	2.696000	0.92011	0.655000	0.94253	GAC	RPH3A	-	pfam_Rabphilin3A_effector_Zn-bd		0.483	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	G	NM_014954		113266130	+1	no_errors	ENST00000389385	ensembl	human	known	70_37	missense	SNP	1.000	C
SCEL	8796	genome.wustl.edu	37	13	78176203	78176203	+	Silent	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr13:78176203C>T	ENST00000349847.3	+	16	1005	c.921C>T	c.(919-921)atC>atT	p.I307I	SCEL-AS1_ENST00000457528.2_RNA|SCEL_ENST00000535157.1_Silent_p.I285I|SCEL_ENST00000469982.1_3'UTR|SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000377246.3_Silent_p.I287I	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	307	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.I307I(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TGTAAAGAATCCAAAGCCTTG	0.393																																																	1	Substitution - coding silent(1)	cervix(1)											63.0	65.0	64.0					13																	78176203		2203	4300	6503	SO:0001819	synonymous_variant	8796			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.921C>T	13.37:g.78176203C>T			B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Silent	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.I307	ENST00000349847.3	37	c.921	CCDS9459.1	13																																																																																			SCEL	-	NULL		0.393	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCEL	HGNC	protein_coding	OTTHUMT00000045339.2	C	NM_144777		78176203	+1	no_errors	ENST00000349847	ensembl	human	known	70_37	silent	SNP	0.828	T
SDHA	6389	genome.wustl.edu	37	5	236602	236602	+	Silent	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr5:236602G>A	ENST00000264932.6	+	10	1435	c.1320G>A	c.(1318-1320)gaG>gaA	p.E440E	SDHA_ENST00000510361.1_Silent_p.E392E|SDHA_ENST00000504309.1_Silent_p.E440E	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	440					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.E440E(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCTGTGGGGAGGCCGCCTGTG	0.592									Familial Paragangliomas																																								1	Substitution - coding silent(1)	cervix(1)											60.0	56.0	58.0					5																	236602		2203	4300	6503	SO:0001819	synonymous_variant	6389	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1320G>A	5.37:g.236602G>A			A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Silent	SNP	pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	p.E440	ENST00000264932.6	37	c.1320	CCDS3853.1	5																																																																																			SDHA	-	pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg		0.592	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHA	HGNC	protein_coding	OTTHUMT00000206599.1	G	NM_004168		236602	+1	no_errors	ENST00000264932	ensembl	human	known	70_37	silent	SNP	1.000	A
SDK1	221935	genome.wustl.edu	37	7	3998591	3998591	+	Missense_Mutation	SNP	G	G	C			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr7:3998591G>C	ENST00000404826.2	+	8	1318	c.1179G>C	c.(1177-1179)gaG>gaC	p.E393D	SDK1_ENST00000389531.3_Missense_Mutation_p.E393D	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	393	Ig-like C2-type 4.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E393D(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTGAGCCCGAGAGTCGGATTT	0.458																																																	1	Substitution - Missense(1)	cervix(1)											131.0	135.0	134.0					7																	3998591		2203	4300	6503	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1179G>C	7.37:g.3998591G>C	ENSP00000385899:p.Glu393Asp		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E393D	ENST00000404826.2	37	c.1179	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573200	0.28092	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.36699	1.24;1.24	5.35	0.0852	0.14440	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.251925	0.32175	N	0.006475	T	0.22975	0.0555	L	0.48218	1.51	0.09310	N	1	P	0.35872	0.525	B	0.34590	0.186	T	0.18713	-1.0328	10	0.16896	T	0.51	.	5.247	0.15502	0.2927:0.2494:0.4579:0.0	.	393	Q7Z5N4	SDK1_HUMAN	D	393	ENSP00000385899:E393D;ENSP00000374182:E393D	ENSP00000374182:E393D	E	+	3	2	SDK1	3965117	0.990000	0.36364	0.098000	0.21074	0.851000	0.48451	0.863000	0.27913	-0.195000	0.10382	-0.140000	0.14226	GAG	SDK1	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.458	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	G	NM_152744		3998591	+1	no_errors	ENST00000404826	ensembl	human	known	70_37	missense	SNP	0.041	C
EPHB4	2050	genome.wustl.edu	37	7	100424587	100424587	+	Intron	DEL	G	G	-	rs34283258|rs35907339|rs200488259|rs2304374		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr7:100424587delG	ENST00000358173.3	-	1	521				EPHB4_ENST00000477446.1_Intron|EPHB4_ENST00000360620.3_Intron	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4						angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCCCCCCCCCGCAAGGAAACT	0.682																																					GBM(200;2113 3072 25865 52728)												0													10.0	10.0	10.0					7																	100424587		2052	3966	6018	SO:0001627	intron_variant	56996			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.52+13C>-	7.37:g.100424587delG			B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	RNA	DEL	-	NULL	ENST00000358173.3	37	NULL	CCDS5706.1	7																																																																																			SLC12A9	-	-		0.682	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A9	HGNC	protein_coding	OTTHUMT00000347222.1	G	NM_004444		100424587	+1	no_errors	ENST00000461016	ensembl	human	putative	70_37	rna	DEL	0.006	-
SNTG2	54221	genome.wustl.edu	37	2	1271197	1271197	+	Missense_Mutation	SNP	G	G	C			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr2:1271197G>C	ENST00000308624.5	+	14	1267	c.1138G>C	c.(1138-1140)Gac>Cac	p.D380H	SNTG2_ENST00000407292.1_Missense_Mutation_p.D253H	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	380	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.D380H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TCAAGATTTTGACTTTGAGGA	0.527																																																	1	Substitution - Missense(1)	cervix(1)											65.0	61.0	63.0					2																	1271197		1925	4133	6058	SO:0001583	missense	54221			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1138G>C	2.37:g.1271197G>C	ENSP00000311837:p.Asp380His		Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D380H	ENST00000308624.5	37	c.1138	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901245	0.33535	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.70282	1.33;-0.47	4.46	3.57	0.40892	Pleckstrin homology domain (1);	0.173210	0.49916	D	0.000124	T	0.74816	0.3766	L	0.46157	1.445	0.09310	N	1	D;D	0.57571	0.98;0.966	P;P	0.58873	0.847;0.62	T	0.66622	-0.5877	10	0.48119	T	0.1	.	12.3903	0.55355	0.085:0.0:0.915:0.0	.	253;380	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	H	380;253	ENSP00000311837:D380H;ENSP00000385020:D253H	ENSP00000311837:D380H	D	+	1	0	SNTG2	1253778	0.997000	0.39634	0.005000	0.12908	0.502000	0.33828	3.803000	0.55560	0.821000	0.34540	0.655000	0.94253	GAC	SNTG2	-	NULL		0.527	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	G	NM_018968		1271197	+1	no_errors	ENST00000308624	ensembl	human	known	70_37	missense	SNP	0.029	C
SLC39A10	57181	genome.wustl.edu	37	2	196573389	196573389	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr2:196573389G>A	ENST00000409086.3	+	5	1671	c.1396G>A	c.(1396-1398)Gga>Aga	p.G466R	SLC39A10_ENST00000359634.5_Missense_Mutation_p.G466R|SLC39A10_ENST00000541054.1_Missense_Mutation_p.G16R	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	466	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.G466R(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GTCTCAGGGTGGACATGATCA	0.303																																																	1	Substitution - Missense(1)	cervix(1)											90.0	84.0	86.0					2																	196573389		2203	4300	6503	SO:0001583	missense	57181				CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1396G>A	2.37:g.196573389G>A	ENSP00000386766:p.Gly466Arg		A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	pfam_ZIP	p.G466R	ENST00000409086.3	37	c.1396	CCDS33353.1	2	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376696	0.61735	.	.	ENSG00000196950	ENST00000409086;ENST00000359634;ENST00000541054	T;T;T	0.49720	0.77;0.77;0.77	5.17	5.17	0.71159	.	0.361543	0.32301	N	0.006298	T	0.58495	0.2126	M	0.69523	2.12	0.37757	D	0.926193	P	0.45634	0.863	P	0.49637	0.617	T	0.58042	-0.7706	10	0.22109	T	0.4	.	18.8496	0.92222	0.0:0.0:1.0:0.0	.	466	Q9ULF5	S39AA_HUMAN	R	466;466;16	ENSP00000386766:G466R;ENSP00000352655:G466R;ENSP00000437787:G16R	ENSP00000352655:G466R	G	+	1	0	SLC39A10	196281634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.823000	0.62694	2.687000	0.91594	0.650000	0.86243	GGA	SLC39A10	-	pfam_ZIP		0.303	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A10	HGNC	protein_coding	OTTHUMT00000335186.1	G	XM_047707		196573389	+1	no_errors	ENST00000359634	ensembl	human	known	70_37	missense	SNP	1.000	A
SPINK5	11005	genome.wustl.edu	37	5	147503405	147503405	+	Missense_Mutation	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr5:147503405C>T	ENST00000256084.7	+	27	2590	c.2548C>T	c.(2548-2550)Cgt>Tgt	p.R850C	SPINK5_ENST00000398454.1_Missense_Mutation_p.R850C|SPINK5_ENST00000359874.3_Missense_Mutation_p.R850C	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	850	Kazal-like 13. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R850C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCTGTGTCGTGAATTTCG	0.388																																																	2	Substitution - Missense(2)	cervix(2)											88.0	85.0	86.0					5																	147503405		1871	4121	5992	SO:0001583	missense	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2548C>T	5.37:g.147503405C>T	ENSP00000256084:p.Arg850Cys		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal	p.R850C	ENST00000256084.7	37	c.2548	CCDS43382.1	5	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924049	0.34002	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.07021	3.23;3.23;3.23;3.23	4.27	0.518	0.17030	Proteinase inhibitor I1, Kazal (1);	0.947601	0.08737	N	0.901191	T	0.12518	0.0304	L	0.29908	0.895	0.24969	N	0.991671	D;D;D;D	0.76494	0.994;0.999;0.997;0.996	P;P;P;P	0.58520	0.696;0.84;0.696;0.84	T	0.32052	-0.9921	10	0.51188	T	0.08	-1.6901	6.4683	0.21993	0.0:0.5918:0.0:0.4082	.	831;850;850;850	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	C	850;850;831;850	ENSP00000381472:R850C;ENSP00000352936:R850C;ENSP00000421519:R831C;ENSP00000256084:R850C	ENSP00000256084:R850C	R	+	1	0	SPINK5	147483598	0.000000	0.05858	0.702000	0.30337	0.177000	0.22998	-0.574000	0.05868	0.075000	0.16796	0.591000	0.81541	CGT	SPINK5	-	smart_Prot_inh_Kazal		0.388	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPINK5	HGNC	protein_coding	OTTHUMT00000259215.2	C	NM_001127698		147503405	+1	no_errors	ENST00000359874	ensembl	human	known	70_37	missense	SNP	0.772	T
SUPT5H	6829	genome.wustl.edu	37	19	39965349	39965349	+	Silent	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr19:39965349C>T	ENST00000599117.1	+	29	3382	c.3015C>T	c.(3013-3015)cgC>cgT	p.R1005R	SUPT5H_ENST00000402194.2_Silent_p.R1001R|SUPT5H_ENST00000598725.1_Silent_p.R1005R|SUPT5H_ENST00000432763.2_Silent_p.R1005R|SUPT5H_ENST00000359191.6_Silent_p.R1001R			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	1005					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.R1005R(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTGTCATCCGCAGTGTCACGG	0.597																																																	1	Substitution - coding silent(1)	cervix(1)											51.0	37.0	42.0					19																	39965349		2203	4300	6503	SO:0001819	synonymous_variant	6829			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.3015C>T	19.37:g.39965349C>T			O43279|Q59G52|Q99639	Silent	SNP	pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5	p.R1005	ENST00000599117.1	37	c.3015	CCDS12536.1	19																																																																																			SUPT5H	-	pirsf_TF_Spt5		0.597	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	HGNC	protein_coding	OTTHUMT00000464918.1	C	NM_003169		39965349	+1	no_errors	ENST00000432763	ensembl	human	known	70_37	silent	SNP	1.000	T
TBC1D10A	83874	genome.wustl.edu	37	22	30688746	30688746	+	Missense_Mutation	SNP	C	C	T	rs201955996		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr22:30688746C>T	ENST00000215790.7	-	9	1309	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.R389H|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.R294H	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	382					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)	p.R382H(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGGCGGGGAGCGGCACTGCAG	0.647																																																	1	Substitution - Missense(1)	cervix(1)											28.0	32.0	30.0					22																	30688746		2203	4300	6503	SO:0001583	missense	83874			AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.1145G>A	22.37:g.30688746C>T	ENSP00000215790:p.Arg382His		B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R382H	ENST00000215790.7	37	c.1145	CCDS13874.1	22	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208377	0.39003	.	.	ENSG00000099992	ENST00000215790;ENST00000403477;ENST00000403362	T;T;T	0.05580	3.43;3.43;3.42	5.51	-1.97	0.07503	.	0.616289	0.17450	N	0.173817	T	0.03305	0.0096	L	0.28115	0.83	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.06405	0.001;0.002;0.001	T	0.36962	-0.9726	10	0.46703	T	0.11	.	0.8741	0.01220	0.1489:0.2239:0.292:0.3352	.	382;389;382	Q20WK7;B3KXT8;Q9BXI6	.;.;TB10A_HUMAN	H	382;389;294	ENSP00000215790:R382H;ENSP00000384996:R389H;ENSP00000385050:R294H	ENSP00000215790:R382H	R	-	2	0	TBC1D10A	29018746	0.000000	0.05858	0.025000	0.17156	0.780000	0.44128	0.049000	0.14099	0.087000	0.17167	0.561000	0.74099	CGC	TBC1D10A	-	NULL		0.647	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TBC1D10A	HGNC	protein_coding	OTTHUMT00000320550.1	C	NM_031937		30688746	-1	no_errors	ENST00000215790	ensembl	human	known	70_37	missense	SNP	0.034	T
TBC1D3P1-DHX40P1	653645	genome.wustl.edu	37	17	58094559	58094559	+	lincRNA	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr17:58094559C>T	ENST00000407042.3	-	0	250									TBC1D3P1-DHX40P1 readthrough transcribed pseudogene																		CCCAAATGATCGACGTTGTTG	0.547																																																	0																																												653645					17q23.1	2014-09-10	2012-12-07		ENSG00000267104	ENSG00000267104			42362	other	readthrough			"""TBC1D3P1-DHX40P1 readthrough (non-protein coding)"""				Standard	NR_002924		Approved		uc002iyf.2		OTTHUMG00000179977		17.37:g.58094559C>T				RNA	SNP	-	NULL	ENST00000407042.3	37	NULL		17	.	.	.	.	.	.	.	.	.	.	C	3.719	-0.057866	0.07317	.	.	ENSG00000238283	ENST00000407042	.	.	.	0.0465	0.0465	0.14256	.	0.280907	0.31697	N	0.007210	T	0.53530	0.1802	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63229	-0.6684	4	0.62326	D	0.03	.	.	.	.	.	.	.	.	N	47	.	ENSP00000383952:D47N	D	-	1	0	AC005702.1	55449341	0.003000	0.15002	0.005000	0.12908	0.005000	0.04900	-0.727000	0.04931	0.132000	0.18615	0.134000	0.15878	GAT	TBC1D3P1-DHX40P1	-	-		0.547	TBC1D3P1-DHX40P1-201	KNOWN	basic	lincRNA	TBC1D3P1-DHX40P1	HGNC	lincRNA		C	NR_002924		58094559	-1	no_errors	ENST00000407042	ensembl	human	known	70_37	rna	SNP	0.005	T
TDGF1	6997	genome.wustl.edu	37	3	46621265	46621265	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr3:46621265G>A	ENST00000296145.5	+	4	993	c.260G>A	c.(259-261)gGa>gAa	p.G87E	TDGF1_ENST00000542931.1_Missense_Mutation_p.G71E|LRRC2_ENST00000296144.3_Intron	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	87	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPK activity (GO:0000187)|anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle cell differentiation (GO:0055007)|cell differentiation (GO:0030154)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-6 (GO:0071354)|cellular response to tumor necrosis factor (GO:0071356)|embryo development (GO:0009790)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of signal transduction (GO:0009966)|vasculogenesis (GO:0001570)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	growth factor activity (GO:0008083)|receptor binding (GO:0005102)	p.G87E(1)		cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CTGAATGGGGGAACCTGCATG	0.532																																																	1	Substitution - Missense(1)	cervix(1)											109.0	112.0	111.0					3																	46621265		2203	4300	6503	SO:0001583	missense	6997			M96955	CCDS2742.1, CCDS54575.1	3p21.31	2012-10-03			ENSG00000241186	ENSG00000241186			11701	protein-coding gene	gene with protein product		187395				1882841, 10393436	Standard	NM_003212		Approved	CRIPTO, CR, Cripto-1	uc021wxd.1	P13385	OTTHUMG00000133482	ENST00000296145.5:c.260G>A	3.37:g.46621265G>A	ENSP00000296145:p.Gly87Glu		Q8TCC1	Missense_Mutation	SNP	pfam_Cryptic/Cripto_CFC-dom,pirsf_Cripto_growth_factor,pfscan_EG-like_dom	p.G87E	ENST00000296145.5	37	c.260	CCDS2742.1	3	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852513	0.91355	.	.	ENSG00000241186	ENST00000542931;ENST00000296145	D;D	0.84370	-1.84;-1.8	4.62	4.62	0.57501	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94631	0.8269	H	0.97315	3.98	0.58432	D	0.999999	D	0.76494	0.999	D	0.71870	0.975	D	0.95756	0.8796	10	0.87932	D	0	.	13.1751	0.59621	0.0:0.0:1.0:0.0	.	87	P13385	TDGF1_HUMAN	E	71;87	ENSP00000446375:G71E;ENSP00000296145:G87E	ENSP00000296145:G87E	G	+	2	0	AC104304.1	46596269	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	7.396000	0.79891	2.579000	0.87056	0.655000	0.94253	GGA	TDGF1	-	pirsf_Cripto_growth_factor,pfscan_EG-like_dom		0.532	TDGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDGF1	HGNC	protein_coding	OTTHUMT00000257378.2	G	NM_003212		46621265	+1	no_errors	ENST00000296145	ensembl	human	known	70_37	missense	SNP	0.997	A
THSD1	55901	genome.wustl.edu	37	13	52972113	52972113	+	Missense_Mutation	SNP	T	T	C	rs373901957		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr13:52972113T>C	ENST00000258613.4	-	3	453	c.275A>G	c.(274-276)tAt>tGt	p.Y92C	RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000544466.1_Intron|THSD1_ENST00000349258.4_Missense_Mutation_p.Y92C	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	92					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.Y92C(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTCCTTGAAATAGAAGCACTC	0.493																																																	1	Substitution - Missense(1)	cervix(1)						T	CYS/TYR,CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	141.0	122.0	128.0		275,275	3.0	1.0	13		128	0,8600		0,0,4300	no	missense,missense	THSD1	NM_018676.3,NM_199263.2	194,194	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging	92/853,92/800	52972113	1,13005	2203	4300	6503	SO:0001583	missense	55901			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.275A>G	13.37:g.52972113T>C	ENSP00000258613:p.Tyr92Cys		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.Y92C	ENST00000258613.4	37	c.275	CCDS9432.1	13	.	.	.	.	.	.	.	.	.	.	T	13.97	2.395971	0.42512	2.27E-4	0.0	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.16457	2.34;2.51	5.5	2.98	0.34508	.	0.413631	0.27327	N	0.019870	T	0.29223	0.0727	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.931	T	0.01956	-1.1240	10	0.31617	T	0.26	-6.2533	6.6629	0.23024	0.1367:0.0746:0.0:0.7887	.	92;92	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	C	92	ENSP00000340650:Y92C;ENSP00000258613:Y92C	ENSP00000258613:Y92C	Y	-	2	0	THSD1	51870114	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	1.631000	0.37092	0.351000	0.24027	0.459000	0.35465	TAT	THSD1	-	NULL		0.493	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD1	HGNC	protein_coding	OTTHUMT00000045058.3	T			52972113	-1	no_errors	ENST00000258613	ensembl	human	known	70_37	missense	SNP	1.000	C
TINAG	27283	genome.wustl.edu	37	6	54191661	54191661	+	Missense_Mutation	SNP	C	C	T	rs115438249	byFrequency	TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr6:54191661C>T	ENST00000259782.4	+	4	667	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	TINAG_ENST00000370864.3_Missense_Mutation_p.R173C|TINAG_ENST00000370869.3_Missense_Mutation_p.R187C	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	191					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R191C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTAAATTTCGCCTTGGCAC	0.373																																																	1	Substitution - Missense(1)	cervix(1)						C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	139.0	126.0	131.0		571	5.8	1.0	6	dbSNP_133	131	0,8600		0,0,4300	yes	missense	TINAG	NM_014464.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	191/477	54191661	2,13004	2203	4300	6503	SO:0001583	missense	27283			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.571C>T	6.37:g.54191661C>T	ENSP00000259782:p.Arg191Cys		Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.R191C	ENST00000259782.4	37	c.571	CCDS4955.1	6	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999074	0.74818	4.54E-4	0.0	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	T;T;T	0.77877	-1.13;-1.13;-1.13	5.82	5.82	0.92795	.	0.349950	0.28544	N	0.014979	D	0.86506	0.5949	M	0.85462	2.755	0.58432	D	0.999999	D	0.89917	1.0	D	0.63957	0.92	D	0.88133	0.2839	10	0.87932	D	0	.	15.6145	0.76753	0.0:1.0:0.0:0.0	.	191	Q9UJW2	TINAG_HUMAN	C	187;141;191;173	ENSP00000359906:R187C;ENSP00000259782:R191C;ENSP00000359901:R173C	ENSP00000259782:R191C	R	+	1	0	TINAG	54299620	0.997000	0.39634	0.967000	0.41034	0.737000	0.42083	4.282000	0.58971	2.751000	0.94390	0.643000	0.83706	CGC	TINAG	-	NULL		0.373	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAG	HGNC	protein_coding	OTTHUMT00000040984.1	C	NM_014464		54191661	+1	no_errors	ENST00000259782	ensembl	human	known	70_37	missense	SNP	0.987	T
TNFRSF11A	8792	genome.wustl.edu	37	18	60017106	60017106	+	Silent	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr18:60017106G>A	ENST00000586569.1	+	3	257	c.219G>A	c.(217-219)ccG>ccA	p.P73P	TNFRSF11A_ENST00000269485.7_Silent_p.P73P	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	73					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)	p.P73P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCTGTGGCCCGGATGAATACT	0.423																																																	1	Substitution - coding silent(1)	cervix(1)											192.0	182.0	185.0					18																	60017106		2203	4300	6503	SO:0001819	synonymous_variant	8792			AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.219G>A	18.37:g.60017106G>A			I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11A,prints_TNFR_11	p.P73	ENST00000586569.1	37	c.219	CCDS11980.1	18																																																																																			TNFRSF11A	-	smart_TNFR/NGFR_Cys_rich_reg		0.423	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF11A	HGNC	protein_coding	OTTHUMT00000256186.2	G			60017106	+1	no_errors	ENST00000586569	ensembl	human	known	70_37	silent	SNP	0.483	A
TOP2A	7153	genome.wustl.edu	37	17	38556817	38556817	+	Silent	SNP	A	A	G			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr17:38556817A>G	ENST00000423485.1	-	22	2921	c.2763T>C	c.(2761-2763)atT>atC	p.I921I		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	921					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)	p.I921I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CTGAGATTTCAATGGTTGTAG	0.353																																																	1	Substitution - coding silent(1)	cervix(1)											92.0	78.0	82.0					17																	38556817		1822	4085	5907	SO:0001819	synonymous_variant	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.2763T>C	17.37:g.38556817A>G			B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo	p.I921	ENST00000423485.1	37	c.2763	CCDS45672.1	17																																																																																			TOP2A	-	pfam_Topo_IIA_A/C,superfamily_Topo_IIA_cen,smart_Topo_IIA_A/C		0.353	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	A			38556817	-1	no_errors	ENST00000423485	ensembl	human	known	70_37	silent	SNP	1.000	G
TSC2	7249	genome.wustl.edu	37	16	2106737	2106737	+	Silent	SNP	C	C	T			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr16:2106737C>T	ENST00000219476.3	+	8	1371	c.741C>T	c.(739-741)atC>atT	p.I247I	TSC2_ENST00000382538.6_Silent_p.I198I|TSC2_ENST00000568454.1_Silent_p.I258I|TSC2_ENST00000353929.4_Silent_p.I247I|TSC2_ENST00000350773.4_Silent_p.I247I|TSC2_ENST00000401874.2_Silent_p.I247I|TSC2_ENST00000439673.2_Silent_p.I210I	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	247	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.I247I(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GTCGCACCATCAACGTCAAGG	0.597			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	2	Substitution - coding silent(2)	cervix(2)											116.0	105.0	109.0					16																	2106737		2198	4300	6498	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.741C>T	16.37:g.2106737C>T			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.I247	ENST00000219476.3	37	c.741	CCDS10458.1	16																																																																																			TSC2	-	pfam_Tuberin_N,superfamily_ARM-type_fold		0.597	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	C	NM_000548		2106737	+1	no_errors	ENST00000219476	ensembl	human	known	70_37	silent	SNP	1.000	T
TSPYL5	85453	genome.wustl.edu	37	8	98289031	98289031	+	Missense_Mutation	SNP	G	G	A	rs144247525	byFrequency	TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr8:98289031G>A	ENST00000322128.3	-	1	1145	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	348					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)		p.R348C(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					AAGAAACTACGGTTGTTTTCT	0.498																																																	1	Substitution - Missense(1)	cervix(1)						G	CYS/ARG	0,4406		0,0,2203	114.0	115.0	115.0		1042	2.3	0.2	8	dbSNP_134	115	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TSPYL5	NM_033512.2	180	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	348/418	98289031	4,13002	2203	4300	6503	SO:0001583	missense	85453			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.1042C>T	8.37:g.98289031G>A	ENSP00000322802:p.Arg348Cys		B3KRF0|Q9C0B3	Missense_Mutation	SNP	pfam_NAP_family	p.R348C	ENST00000322128.3	37	c.1042	CCDS34927.1	8	.	.	.	.	.	.	.	.	.	.	G	9.714	1.157953	0.21454	0.0	4.65E-4	ENSG00000180543	ENST00000322128	T	0.26373	1.74	4.3	2.28	0.28536	.	0.265497	0.20106	N	0.099132	T	0.13457	0.0326	N	0.12920	0.275	0.20074	N	0.999933	B	0.23806	0.091	B	0.28232	0.087	T	0.17471	-1.0368	10	0.52906	T	0.07	-0.1916	4.1776	0.10360	0.1536:0.2483:0.5981:0.0	.	348	Q86VY4	TSYL5_HUMAN	C	348	ENSP00000322802:R348C	ENSP00000322802:R348C	R	-	1	0	TSPYL5	98358207	0.001000	0.12720	0.190000	0.23270	0.997000	0.91878	0.813000	0.27225	0.611000	0.30052	0.563000	0.77884	CGT	TSPYL5	-	pfam_NAP_family		0.498	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	HGNC	protein_coding	OTTHUMT00000380611.1	G	NM_033512		98289031	-1	no_errors	ENST00000322128	ensembl	human	known	70_37	missense	SNP	0.243	A
TTN	7273	genome.wustl.edu	37	2	179462709	179462709	+	Missense_Mutation	SNP	A	A	G			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr2:179462709A>G	ENST00000591111.1	-	243	52489	c.52265T>C	c.(52264-52266)gTt>gCt	p.V17422A	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10190A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V19063A|TTN_ENST00000342992.6_Missense_Mutation_p.V16495A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10123A|TTN_ENST00000460472.2_Missense_Mutation_p.V9998A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17422	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	p.V10123A(1)|p.V9998A(1)|p.V16495A(1)|p.V10190A(1)|p.V16493A(1)		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)			GACTGCTCTAACTCTAAATTT	0.398																																																	5	Substitution - Missense(5)	cervix(5)											202.0	202.0	202.0					2																	179462709		1876	4120	5996	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.52265T>C	2.37:g.179462709A>G	ENSP00000465570:p.Val17422Ala		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.V16495A	ENST00000591111.1	37	c.49484		2	.	.	.	.	.	.	.	.	.	.	A	17.16	3.317370	0.60524	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	5.87	5.87	0.94306	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88786	0.6531	M	0.90019	3.08	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	D	0.90902	0.4769	9	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	9998;10123;10190;17422	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	16495;9998;10190;10123;9996	ENSP00000343764:V16495A;ENSP00000434586:V9998A;ENSP00000340554:V10190A;ENSP00000352154:V10123A	ENSP00000340554:V10190A	V	-	2	0	TTN	179170954	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.216000	0.95154	2.371000	0.80710	0.533000	0.62120	GTT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179462709	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TUFT1	7286	genome.wustl.edu	37	1	151534633	151534633	+	Missense_Mutation	SNP	G	G	A	rs139065608	byFrequency	TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr1:151534633G>A	ENST00000368849.3	+	2	189	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	TUFT1_ENST00000353024.3_Intron|TUFT1_ENST00000538902.1_Missense_Mutation_p.A62T|TUFT1_ENST00000392712.3_Intron|TUFT1_ENST00000368848.2_Intron|RP11-74C1.4_ENST00000434112.1_RNA	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	43					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)	p.A43T(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGAACACATAGCCCAGAAGGT	0.547																																																	1	Substitution - Missense(1)	cervix(1)											166.0	141.0	149.0					1																	151534633		2203	4300	6503	SO:0001583	missense	7286			AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.127G>A	1.37:g.151534633G>A	ENSP00000357842:p.Ala43Thr		B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	superfamily_Prefoldin	p.A62T	ENST00000368849.3	37	c.184	CCDS1000.1	1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297038	0.60086	.	.	ENSG00000143367	ENST00000368849;ENST00000538902	T;T	0.18016	2.28;2.24	4.58	3.6	0.41247	.	0.784752	0.11492	N	0.558669	T	0.14399	0.0348	M	0.68317	2.08	0.25661	N	0.986006	D;P	0.56521	0.976;0.867	P;P	0.54140	0.743;0.542	T	0.10268	-1.0637	10	0.15066	T	0.55	-13.2888	9.4446	0.38690	0.0:0.0:0.7887:0.2113	.	62;43	F5H607;Q9NNX1	.;TUFT1_HUMAN	T	43;62	ENSP00000357842:A43T;ENSP00000437997:A62T	ENSP00000357842:A43T	A	+	1	0	TUFT1	149801257	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.919000	0.48836	2.549000	0.85964	0.563000	0.77884	GCC	TUFT1	-	NULL		0.547	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	TUFT1	HGNC	protein_coding	OTTHUMT00000035022.1	G	NM_020127		151534633	+1	no_errors	ENST00000538902	ensembl	human	known	70_37	missense	SNP	1.000	A
UBE3D	90025	genome.wustl.edu	37	6	83732175	83732175	+	Missense_Mutation	SNP	G	G	C			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr6:83732175G>C	ENST00000369747.3	-	7	965	c.843C>G	c.(841-843)atC>atG	p.I281M		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	281					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)	p.I281M(1)									TTCTTACCAAGATATACACTT	0.413																																																	1	Substitution - Missense(1)	cervix(1)											51.0	52.0	52.0					6																	83732175		2203	4300	6503	SO:0001583	missense	90025			AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.843C>G	6.37:g.83732175G>C	ENSP00000358762:p.Ile281Met		B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	pfam_UBQ-conj_enz_E2-bd_prot	p.I281M	ENST00000369747.3	37	c.843	CCDS34491.1	6	.	.	.	.	.	.	.	.	.	.	G	8.898	0.955744	0.18507	.	.	ENSG00000118420	ENST00000369747	T	0.32753	1.44	5.35	2.53	0.30540	.	0.183883	0.47455	N	0.000238	T	0.12646	0.0307	M	0.70595	2.14	0.80722	D	1	B;P	0.35192	0.19;0.489	B;B	0.36134	0.218;0.167	T	0.09357	-1.0678	10	0.21540	T	0.41	-23.0032	3.4199	0.07389	0.1518:0.1356:0.5726:0.14	.	260;281	C9JRS1;Q7Z6J8	.;UB2CB_HUMAN	M	281	ENSP00000358762:I281M	ENSP00000358762:I281M	I	-	3	3	UBE2CBP	83788894	1.000000	0.71417	0.972000	0.41901	0.409000	0.31022	1.604000	0.36804	0.225000	0.20959	0.462000	0.41574	ATC	UBE3D	-	pfam_UBQ-conj_enz_E2-bd_prot		0.413	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3D	HGNC	protein_coding	OTTHUMT00000041347.7	G	NM_198920		83732175	-1	no_errors	ENST00000369747	ensembl	human	known	70_37	missense	SNP	1.000	C
UTP20	27340	genome.wustl.edu	37	12	101748657	101748657	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr12:101748657G>A	ENST00000261637.4	+	41	5329	c.5155G>A	c.(5155-5157)Gag>Aag	p.E1719K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1719					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.E1719K(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CATGGAATTAGAGCGTGTGGA	0.438																																																	1	Substitution - Missense(1)	cervix(1)											96.0	85.0	89.0					12																	101748657		2203	4300	6503	SO:0001583	missense	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5155G>A	12.37:g.101748657G>A	ENSP00000261637:p.Glu1719Lys		Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.E1719K	ENST00000261637.4	37	c.5155	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500221	0.26861	.	.	ENSG00000120800	ENST00000261637	T	0.20463	2.07	5.79	5.79	0.91817	Armadillo-type fold (1);	0.269787	0.41605	D	0.000853	T	0.15739	0.0379	L	0.50333	1.59	0.09310	N	0.999997	P	0.40578	0.722	B	0.33454	0.164	T	0.29058	-1.0024	10	0.06757	T	0.87	-11.4472	13.1611	0.59544	0.0:0.1601:0.8398:0.0	.	1719	O75691	UTP20_HUMAN	K	1719	ENSP00000261637:E1719K	ENSP00000261637:E1719K	E	+	1	0	UTP20	100272788	1.000000	0.71417	0.031000	0.17742	0.009000	0.06853	6.108000	0.71522	2.733000	0.93635	0.655000	0.94253	GAG	UTP20	-	superfamily_ARM-type_fold		0.438	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	G	NM_014503		101748657	+1	no_errors	ENST00000261637	ensembl	human	known	70_37	missense	SNP	0.092	A
UTRN	7402	genome.wustl.edu	37	6	144875962	144875962	+	Missense_Mutation	SNP	A	A	G			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr6:144875962A>G	ENST00000367545.3	+	48	7067	c.7067A>G	c.(7066-7068)gAg>gGg	p.E2356G		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2356					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E2356G(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGAAAATATGAGGCTCGACTC	0.438																																																	1	Substitution - Missense(1)	cervix(1)											88.0	88.0	88.0					6																	144875962		2203	4300	6503	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.7067A>G	6.37:g.144875962A>G	ENSP00000356515:p.Glu2356Gly		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.E2356G	ENST00000367545.3	37	c.7067	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	A	36	5.748907	0.96882	.	.	ENSG00000152818	ENST00000367545	T	0.49139	0.79	5.17	5.17	0.71159	.	0.000000	0.51477	D	0.000090	T	0.37210	0.0995	M	0.61703	1.905	0.80722	D	1	B	0.25743	0.133	B	0.30716	0.119	T	0.44772	-0.9306	10	0.72032	D	0.01	.	15.2988	0.73931	1.0:0.0:0.0:0.0	.	2356	P46939	UTRO_HUMAN	G	2356	ENSP00000356515:E2356G	ENSP00000356515:E2356G	E	+	2	0	UTRN	144917655	1.000000	0.71417	0.926000	0.36857	0.945000	0.59286	8.962000	0.93254	2.063000	0.61619	0.460000	0.39030	GAG	UTRN	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.438	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	A			144875962	+1	no_errors	ENST00000367545	ensembl	human	known	70_37	missense	SNP	1.000	G
UVRAG	7405	genome.wustl.edu	37	11	75727987	75727987	+	Missense_Mutation	SNP	G	G	C	rs376775696		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr11:75727987G>C	ENST00000356136.3	+	12	1430	c.1189G>C	c.(1189-1191)Gac>Cac	p.D397H	UVRAG_ENST00000531818.1_Missense_Mutation_p.D25H|UVRAG_ENST00000539288.1_Missense_Mutation_p.D25H|UVRAG_ENST00000528420.1_Missense_Mutation_p.D296H|UVRAG_ENST00000532130.1_Missense_Mutation_p.D25H|UVRAG_ENST00000533454.1_Missense_Mutation_p.D25H	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	397					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)		p.D397H(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AACAATCAAAGACAATATCAA	0.353																																																	1	Substitution - Missense(1)	cervix(1)											109.0	101.0	104.0					11																	75727987		2200	4293	6493	SO:0001583	missense	7405			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1189G>C	11.37:g.75727987G>C	ENSP00000348455:p.Asp397His		B3KTC1|O00392	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.D397H	ENST00000356136.3	37	c.1189	CCDS8241.1	11	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313284	0.81358	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288	T;T	0.28255	1.62;1.62	4.49	4.49	0.54785	.	0.044747	0.85682	D	0.000000	T	0.58104	0.2099	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.65121	-0.6245	10	0.72032	D	0.01	-17.6402	16.3388	0.83075	0.0:0.0:1.0:0.0	.	397	Q9P2Y5	UVRAG_HUMAN	H	397;296;25;25;25;25	ENSP00000348455:D397H;ENSP00000436039:D296H	ENSP00000348455:D397H	D	+	1	0	UVRAG	75405635	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.652000	0.98499	2.320000	0.78422	0.585000	0.79938	GAC	UVRAG	-	NULL		0.353	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVRAG	HGNC	protein_coding	OTTHUMT00000383430.1	G	NM_003369		75727987	+1	no_errors	ENST00000356136	ensembl	human	known	70_37	missense	SNP	1.000	C
XIRP2	129446	genome.wustl.edu	37	2	168107674	168107674	+	Missense_Mutation	SNP	G	G	A			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr2:168107674G>A	ENST00000409195.1	+	9	9861	c.9772G>A	c.(9772-9774)Gct>Act	p.A3258T	XIRP2_ENST00000409273.1_Missense_Mutation_p.A3036T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.A3258T|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3083					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.A3258T(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCTGTGGACGCTCAAGAGGA	0.408																																																	1	Substitution - Missense(1)	cervix(1)											63.0	59.0	61.0					2																	168107674		1893	4123	6016	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9772G>A	2.37:g.168107674G>A	ENSP00000386840:p.Ala3258Thr		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.A3258T	ENST00000409195.1	37	c.9772	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	6.434	0.448138	0.12223	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02763	4.17;4.17;4.17	5.61	3.81	0.43845	.	0.187106	0.49305	N	0.000157	T	0.05090	0.0136	M	0.71581	2.175	0.34451	D	0.700649	P;P;P	0.51351	0.907;0.944;0.933	B;B;B	0.42087	0.161;0.305;0.375	T	0.44267	-0.9339	10	0.29301	T	0.29	-8.4436	11.5346	0.50631	0.1486:0.0:0.8514:0.0	.	3083;3083;3036	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	3258;3258;3036;672	ENSP00000386840:A3258T;ENSP00000295237:A3258T;ENSP00000387255:A3036T	ENSP00000295237:A3258T	A	+	1	0	XIRP2	167815920	0.982000	0.34865	0.985000	0.45067	0.109000	0.19521	1.852000	0.39348	0.840000	0.34995	0.460000	0.39030	GCT	XIRP2	-	NULL		0.408	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	G	NM_152381		168107674	+1	no_errors	ENST00000295237	ensembl	human	known	70_37	missense	SNP	0.999	A
ZNF733P	643955	genome.wustl.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																																	0																																												643955					7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C				RNA	SNP	-	NULL	ENST00000331425.6	37	NULL		7																																																																																			ZNF733P	-	-		0.438	ZNF733P-002	KNOWN	basic	processed_transcript	ZNF733P	HGNC	pseudogene	OTTHUMT00000343679.1	G			62752443	-1	no_errors	ENST00000331425	ensembl	human	known	70_37	rna	SNP	0.000	C
