#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
ALDH1A3	220	genome.wustl.edu	37	15	101438352	101438352	+	Missense_Mutation	SNP	G	G	A	rs547918064		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr15:101438352G>A	ENST00000329841.5	+	8	1377	c.845G>A	c.(844-846)gGg>gAg	p.G282E	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.G175E|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	282					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	CTGGAGCTGGGGGGGAAGAAC	0.572																																																	0													72.0	69.0	70.0					15																	101438352		2203	4300	6503	SO:0001583	missense	220			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.845G>A	15.37:g.101438352G>A	ENSP00000332256:p.Gly282Glu		Q6NT64	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.G282E	ENST00000329841.5	37	c.845	CCDS10389.1	15	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231744	0.79688	.	.	ENSG00000184254	ENST00000329841;ENST00000346623	D	0.86769	-2.17	5.76	4.84	0.62591	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1);	0.048557	0.85682	D	0.000000	D	0.96676	0.8915	H	0.99600	4.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98576	1.0648	10	0.72032	D	0.01	.	16.2757	0.82642	0.0:0.0:0.8665:0.1335	.	186;282	Q7Z3A2;P47895	.;AL1A3_HUMAN	E	282;186	ENSP00000332256:G282E	ENSP00000332256:G282E	G	+	2	0	ALDH1A3	99255875	1.000000	0.71417	0.198000	0.23420	0.597000	0.36814	9.338000	0.96553	1.420000	0.47138	0.555000	0.69702	GGG	ALDH1A3	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.572	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A3	HGNC	protein_coding	OTTHUMT00000313620.2	G			101438352	+1	no_errors	ENST00000329841	ensembl	human	known	70_37	missense	SNP	0.999	A
ARHGEF6	9459	genome.wustl.edu	37	X	135763034	135763034	+	Splice_Site	SNP	A	A	G			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chrX:135763034A>G	ENST00000250617.6	-	15	2765	c.1560T>C	c.(1558-1560)ggT>ggC	p.G520G	ARHGEF6_ENST00000535227.1_Splice_Site_p.G393G|ARHGEF6_ENST00000370622.1_Splice_Site_p.G366G|ARHGEF6_ENST00000370620.1_Splice_Site_p.G366G	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	520	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CCACTGTGTTACCTACATCCC	0.438																																																	0													164.0	128.0	140.0					X																	135763034		2203	4300	6503	SO:0001630	splice_region_variant	9459			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1559-1T>C	X.37:g.135763034A>G			A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Silent	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin	p.G520	ENST00000250617.6	37	c.1560	CCDS14660.1	X																																																																																			ARHGEF6	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.438	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF6	HGNC	protein_coding	OTTHUMT00000058511.2	A	NM_004840	Silent	135763034	-1	no_errors	ENST00000250617	ensembl	human	known	70_37	silent	SNP	0.025	G
ARID1B	57492	genome.wustl.edu	37	6	157496045	157496046	+	Intron	INS	-	-	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr6:157496045_157496046insA	ENST00000350026.5	+	10	3097				ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Frame_Shift_Ins_p.M997fs|ARID1B_ENST00000367148.1_Frame_Shift_Ins_p.M1055fs|ARID1B_ENST00000346085.5_Intron	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)						chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTCCCTTCCCCAATGTCCCCCA	0.49																																																	0																																										SO:0001627	intron_variant	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3096+794->A	6.37:g.157496047_157496047dupA			Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Frame_Shift_Ins	INS	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.M1055fs	ENST00000350026.5	37	c.3161_3162	CCDS5251.2	6																																																																																			ARID1B	-	NULL		0.490	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	-	NM_020732		157496046	+1	no_errors	ENST00000367148	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A
ASL	435	genome.wustl.edu	37	7	65553811	65553811	+	Missense_Mutation	SNP	G	G	A	rs3116476		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr7:65553811G>A	ENST00000304874.9	+	11	838	c.736G>A	c.(736-738)Gct>Act	p.A246T	AC068533.7_ENST00000450043.1_Missense_Mutation_p.G14D|ASL_ENST00000380839.4_Missense_Mutation_p.A220T|ASL_ENST00000395332.3_Missense_Mutation_p.A246T|ASL_ENST00000395331.3_Missense_Mutation_p.A246T	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	246				A -> R (in Ref. 1; CAA68722, 2; AAA51786, 3; AAA51787, 4; AAA51788 and 5; AAL57276). {ECO:0000305}.	arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CCTGTTCTGGGCTTCGCTGTG	0.592																																																	0													84.0	63.0	70.0					7																	65553811		2203	4300	6503	SO:0001583	missense	435				CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.736G>A	7.37:g.65553811G>A	ENSP00000307188:p.Ala246Thr		E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase	p.A246T	ENST00000304874.9	37	c.736	CCDS5531.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	26.0|26.0	4.693436|4.693436	0.88735|0.88735	.|.	.|.	ENSG00000126522|ENSG00000249319	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000362000;ENST00000395331|ENST00000450043	D;D;D;D;D|.	0.99436|.	-5.9;-5.9;-5.9;-5.9;-5.9|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Lyase 1, N-terminal (1);L-Aspartase-like (1);|.	0.113875|.	0.64402|.	D|.	0.000017|.	T|T	0.79305|0.79305	0.4423|0.4423	M|M	0.81614|0.81614	2.55|2.55	0.80722|0.80722	D|D	1|1	B;P;P|.	0.41643|.	0.45;0.758;0.485|.	P;B;B|.	0.46452|.	0.517;0.31;0.36|.	T|T	0.79022|0.79022	-0.1973|-0.1973	10|5	0.72032|.	D|.	0.01|.	.|.	19.0811|19.0811	0.93182|0.93182	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	220;246;246|.	E9PE48;E7EMI0;P04424|.	.;.;ARLY_HUMAN|.	T|D	246;220;246;181;246|14	ENSP00000307188:A246T;ENSP00000370219:A220T;ENSP00000378741:A246T;ENSP00000354710:A181T;ENSP00000378740:A246T|.	ENSP00000307188:A246T|.	A|G	+|+	1|2	0|0	ASL|AC068533.7	65191246|65191246	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.894000|0.894000	0.52154|0.52154	7.135000|7.135000	0.77276|0.77276	2.756000|2.756000	0.94617|0.94617	0.561000|0.561000	0.74099|0.74099	GCT|GGC	ASL	-	pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase		0.592	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASL	HGNC	protein_coding	OTTHUMT00000251695.2	G	NM_000048		65553811	+1	no_errors	ENST00000304874	ensembl	human	known	70_37	missense	SNP	1.000	A
ATP2C2	9914	genome.wustl.edu	37	16	84456298	84456298	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr16:84456298G>T	ENST00000262429.4	+	9	927	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Nonsense_Mutation_p.E280*	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	280					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GATGCAGGCTGAAGAGGTAAG	0.478																																																	0													149.0	153.0	152.0					16																	84456298		1881	4108	5989	SO:0001587	stop_gained	9914			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.838G>T	16.37:g.84456298G>T	ENSP00000262429:p.Glu280*		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	p.E280*	ENST00000262429.4	37	c.838	CCDS42207.1	16	.	.	.	.	.	.	.	.	.	.	G	38	7.084946	0.98051	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	.	.	.	5.16	4.17	0.49024	.	0.087219	0.48286	D	0.000188	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	14.2105	0.65762	0.0:0.1509:0.8491:0.0	.	.	.	.	X	280;280;129	.	ENSP00000262429:E280X	E	+	1	0	ATP2C2	83013799	1.000000	0.71417	0.961000	0.40146	0.984000	0.73092	6.184000	0.72008	1.106000	0.41623	0.650000	0.86243	GAA	ATP2C2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr		0.478	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2C2	HGNC	protein_coding	OTTHUMT00000433404.1	G	NM_014861		84456298	+1	no_errors	ENST00000262429	ensembl	human	known	70_37	nonsense	SNP	0.997	T
BACE2	25825	genome.wustl.edu	37	21	42647759	42647760	+	3'UTR	INS	-	-	A	rs11448311|rs112413372	byFrequency	TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr21:42647759_42647760insA	ENST00000330333.6	+	0	2228_2229				BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_3'UTR|BACE2_ENST00000347667.5_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GAAAAATAATTAAAAAAAAAAC	0.386																																																	0																																										SO:0001624	3_prime_UTR_variant	25825			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.*209->A	21.37:g.42647769_42647769dupA			A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	RNA	INS	-	NULL	ENST00000330333.6	37	NULL	CCDS13668.1	21																																																																																			BACE2	-	-		0.386	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BACE2	HGNC	protein_coding	OTTHUMT00000195056.1	-			42647760	+1	no_errors	ENST00000466122	ensembl	human	known	70_37	rna	INS	0.000:0.000	A
BEND3	57673	genome.wustl.edu	37	6	107391662	107391662	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr6:107391662C>A	ENST00000369042.1	-	4	923	c.733G>T	c.(733-735)Gag>Tag	p.E245*	BEND3_ENST00000429433.2_Nonsense_Mutation_p.E245*			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	245	BEN 1. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGCTGGTACTCAGGGGGCGGC	0.637																																																	0													45.0	40.0	41.0					6																	107391662		2203	4300	6503	SO:0001587	stop_gained	57673			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.733G>T	6.37:g.107391662C>A	ENSP00000358038:p.Glu245*		A2RRH2|Q9HCL9	Nonsense_Mutation	SNP	pfam_BEN_domain	p.E245*	ENST00000369042.1	37	c.733	CCDS34507.1	6	.	.	.	.	.	.	.	.	.	.	C	41	9.154337	0.99084	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-42.75	19.1834	0.93632	0.0:1.0:0.0:0.0	.	.	.	.	X	245	.	ENSP00000358038:E245X	E	-	1	0	BEND3	107498355	1.000000	0.71417	0.979000	0.43373	0.845000	0.48019	5.464000	0.66719	2.774000	0.95407	0.561000	0.74099	GAG	BEND3	-	NULL		0.637	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	HGNC	protein_coding	OTTHUMT00000041686.1	C	NM_020913		107391662	-1	no_errors	ENST00000369042	ensembl	human	known	70_37	nonsense	SNP	1.000	A
BIRC6	57448	genome.wustl.edu	37	2	32740651	32740651	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr2:32740651C>G	ENST00000421745.2	+	55	11297	c.11163C>G	c.(11161-11163)caC>caG	p.H3721Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3721					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TATTGTGTCACTCTGGGTCCA	0.433																																					Pancreas(94;175 1509 16028 18060 45422)												0													121.0	108.0	113.0					2																	32740651		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.11163C>G	2.37:g.32740651C>G	ENSP00000393596:p.His3721Gln		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.H3721Q	ENST00000421745.2	37	c.11163	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838360	0.51057	.	.	ENSG00000115760	ENST00000421745	T	0.73789	-0.78	5.5	2.29	0.28610	.	0.000000	0.85682	D	0.000000	T	0.67078	0.2855	L	0.44542	1.39	0.53688	D	0.999977	D	0.53885	0.963	P	0.46796	0.527	T	0.65919	-0.6051	10	0.62326	D	0.03	.	6.993	0.24765	0.0:0.5366:0.0:0.4634	.	3721	Q9NR09	BIRC6_HUMAN	Q	3721	ENSP00000393596:H3721Q	ENSP00000393596:H3721Q	H	+	3	2	BIRC6	32594155	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.191000	0.32138	0.701000	0.31803	0.585000	0.79938	CAC	BIRC6	-	NULL		0.433	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	C	NM_016252		32740651	+1	no_errors	ENST00000421745	ensembl	human	known	70_37	missense	SNP	0.999	G
C16orf62	57020	genome.wustl.edu	37	16	19639018	19639018	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr16:19639018C>T	ENST00000251143.5	+	16	1286	c.1274C>T	c.(1273-1275)gCc>gTc	p.A425V	C16orf62_ENST00000417362.2_Missense_Mutation_p.A358V|C16orf62_ENST00000448695.1_Missense_Mutation_p.A275V|C16orf62_ENST00000542263.1_Missense_Mutation_p.A447V|C16orf62_ENST00000438132.3_Missense_Mutation_p.A514V|C16orf62_ENST00000543152.1_Missense_Mutation_p.A174V			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	425						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TCTTGCAGTGCCTTGCTGTTG	0.438																																																	0													176.0	153.0	161.0					16																	19639018		2197	4300	6497	SO:0001583	missense	57020				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1274C>T	16.37:g.19639018C>T	ENSP00000251143:p.Ala425Val		A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	NULL	p.A514V	ENST00000251143.5	37	c.1541		16	.	.	.	.	.	.	.	.	.	.	C	31	5.070263	0.93950	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	M	0.71296	2.17	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.52064	-0.8625	9	.	.	.	-23.1682	19.9089	0.97019	0.0:1.0:0.0:0.0	.	447;425	F5H7K1;Q7Z3J2	.;CP062_HUMAN	V	514;447;425;358;275	ENSP00000400815:A514V;ENSP00000442468:A447V;ENSP00000251143:A425V;ENSP00000395973:A358V;ENSP00000398009:A275V	.	A	+	2	0	C16orf62	19546519	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	7.137000	0.77295	2.793000	0.96121	0.655000	0.94253	GCC	C16orf62	-	NULL		0.438	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	C16orf62	HGNC	protein_coding		C	NM_020314		19639018	+1	no_errors	ENST00000438132	ensembl	human	known	70_37	missense	SNP	1.000	T
CCR6	1235	genome.wustl.edu	37	6	167550050	167550050	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr6:167550050G>T	ENST00000341935.5	+	3	884	c.332G>T	c.(331-333)tGg>tTg	p.W111L	CCR6_ENST00000349984.4_Missense_Mutation_p.W111L|RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Missense_Mutation_p.W111L	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	111					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		ACCGGTGCGTGGGTTTTCAGC	0.498																																																	0													127.0	126.0	127.0					6																	167550050		2203	4300	6503	SO:0001583	missense	1235			U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.332G>T	6.37:g.167550050G>T	ENSP00000343952:p.Trp111Leu		E1P5C6|P78553|Q92846	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR6,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CXC/IL8_rcpt	p.W111L	ENST00000341935.5	37	c.332	CCDS5298.1	6	.	.	.	.	.	.	.	.	.	.	G	17.04	3.285991	0.59867	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.77358	-1.09;-1.09;-1.09	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.169281	0.42821	U	0.000651	D	0.91341	0.7269	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94311	0.7545	10	0.87932	D	0	.	17.0018	0.86383	0.0:0.0:1.0:0.0	.	111	P51684	CCR6_HUMAN	L	111	ENSP00000383715:W111L;ENSP00000343952:W111L;ENSP00000339393:W111L	ENSP00000343952:W111L	W	+	2	0	CCR6	167470040	1.000000	0.71417	0.258000	0.24420	0.102000	0.19082	6.894000	0.75655	2.230000	0.72887	0.561000	0.74099	TGG	CCR6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4		0.498	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCR6	HGNC	protein_coding	OTTHUMT00000043118.1	G			167550050	+1	no_errors	ENST00000341935	ensembl	human	known	70_37	missense	SNP	1.000	T
CFHR5	81494	genome.wustl.edu	37	1	196971786	196971786	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr1:196971786G>A	ENST00000256785.4	+	8	1431	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	CFHR5_ENST00000367414.5_Missense_Mutation_p.R465H			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	441	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.R441L(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCATTACCACGCTGTGTTGGT	0.328																																																	1	Substitution - Missense(1)	lung(1)											73.0	77.0	76.0					1																	196971786		2203	4300	6503	SO:0001583	missense	81494			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1322G>A	1.37:g.196971786G>A	ENSP00000256785:p.Arg441His		Q2NKK2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R465H	ENST00000256785.4	37	c.1394	CCDS1387.1	1	.	.	.	.	.	.	.	.	.	.	G	9.867	1.197922	0.22037	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.65178	-0.14;-0.14	3.62	-7.24	0.01475	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.46112	0.1376	L	0.49699	1.58	0.09310	N	1	P	0.37398	0.593	B	0.32533	0.147	T	0.23940	-1.0174	9	0.27785	T	0.31	.	9.4208	0.38550	0.2949:0.0:0.5898:0.1153	.	441	Q9BXR6	FHR5_HUMAN	H	465;441	ENSP00000356384:R465H;ENSP00000256785:R441H	ENSP00000256785:R441H	R	+	2	0	CFHR5	195238409	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.605000	0.00889	-2.581000	0.00462	-3.254000	0.00050	CGC	CFHR5	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.328	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	G	NM_030787		196971786	+1	no_errors	ENST00000367414	ensembl	human	known	70_37	missense	SNP	0.000	A
DISP2	85455	genome.wustl.edu	37	15	40661140	40661140	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr15:40661140C>T	ENST00000267889.3	+	8	2914	c.2827C>T	c.(2827-2829)Cgc>Tgc	p.R943C	LINC00594_ENST00000561261.1_lincRNA|RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	943					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCCAGGCCTCCGCCGTGGTTG	0.617																																																	0													68.0	70.0	70.0					15																	40661140		2203	4300	6503	SO:0001583	missense	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2827C>T	15.37:g.40661140C>T	ENSP00000267889:p.Arg943Cys		Q6AHW3|Q9C0C1	Missense_Mutation	SNP	pfscan_SSD	p.R943C	ENST00000267889.3	37	c.2827	CCDS10056.1	15	.	.	.	.	.	.	.	.	.	.	C	7.420	0.636527	0.14386	.	.	ENSG00000140323	ENST00000267889	D	0.92199	-2.99	4.85	2.85	0.33270	.	0.439260	0.24808	N	0.035425	D	0.88577	0.6474	L	0.57536	1.79	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.80582	-0.1318	10	0.59425	D	0.04	-8.3888	8.4465	0.32845	0.1566:0.7597:0.0:0.0837	.	943	A7MBM2	DISP2_HUMAN	C	943	ENSP00000267889:R943C	ENSP00000267889:R943C	R	+	1	0	DISP2	38448432	0.001000	0.12720	0.092000	0.20876	0.602000	0.36980	0.768000	0.26590	0.569000	0.29329	0.555000	0.69702	CGC	DISP2	-	NULL		0.617	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	HGNC	protein_coding	OTTHUMT00000252249.1	C	NM_033510		40661140	+1	no_errors	ENST00000267889	ensembl	human	known	70_37	missense	SNP	0.041	T
DSCAM	1826	genome.wustl.edu	37	21	41447003	41447003	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr21:41447003G>A	ENST00000400454.1	-	27	5326	c.4849C>T	c.(4849-4851)Cgg>Tgg	p.R1617W		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1617					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R1617W(1)|p.R1617R(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGCCTCCTCCGCACAACCAGC	0.627																																					Melanoma(134;970 1778 1785 21664 32388)												2	Substitution - Missense(1)|Substitution - coding silent(1)	endometrium(2)											75.0	89.0	84.0					21																	41447003		2106	4215	6321	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4849C>T	21.37:g.41447003G>A	ENSP00000383303:p.Arg1617Trp		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R1617W	ENST00000400454.1	37	c.4849	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852912	0.71719	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.60548	0.18;0.31	5.8	5.8	0.92144	.	0.057382	0.64402	D	0.000002	T	0.56819	0.2011	L	0.34521	1.04	0.42605	D	0.993291	D	0.65815	0.995	P	0.50378	0.639	T	0.58781	-0.7576	10	0.52906	T	0.07	.	15.3823	0.74669	0.0:0.0:0.795:0.205	.	1617	O60469	DSCAM_HUMAN	W	1617;1369	ENSP00000383303:R1617W;ENSP00000385342:R1369W	ENSP00000383303:R1617W	R	-	1	2	DSCAM	40368873	0.981000	0.34729	0.955000	0.39395	0.896000	0.52359	1.872000	0.39549	2.744000	0.94065	0.655000	0.94253	CGG	DSCAM	-	NULL		0.627	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	G	NM_001389		41447003	-1	no_errors	ENST00000400454	ensembl	human	known	70_37	missense	SNP	1.000	A
DYNC2H1	79659	genome.wustl.edu	37	11	103070089	103070089	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr11:103070089G>T	ENST00000375735.2	+	49	8116	c.7972G>T	c.(7972-7974)Ggt>Tgt	p.G2658C	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G2658C|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2658	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGGACGCAGTGGTGTAGGTCG	0.438																																																	0													111.0	105.0	107.0					11																	103070089		1916	4129	6045	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.7972G>T	11.37:g.103070089G>T	ENSP00000364887:p.Gly2658Cys		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.G2658C	ENST00000375735.2	37	c.7972	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448632	0.84101	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	D;D	0.90620	-2.7;-2.7	6.07	6.07	0.98685	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.64402	U	0.000004	D	0.97158	0.9071	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97376	0.9979	10	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	2658;2658	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	C	2658	ENSP00000364887:G2658C;ENSP00000381167:G2658C	ENSP00000364887:G2658C	G	+	1	0	DYNC2H1	102575299	1.000000	0.71417	0.999000	0.59377	0.572000	0.35998	9.766000	0.98957	2.885000	0.99019	0.655000	0.94253	GGT	DYNC2H1	-	NULL		0.438	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	G	XM_370652		103070089	+1	no_errors	ENST00000398093	ensembl	human	known	70_37	missense	SNP	1.000	T
EBP	10682	genome.wustl.edu	37	X	48382321	48382321	+	Silent	SNP	G	G	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chrX:48382321G>A	ENST00000495186.1	+	2	985	c.162G>A	c.(160-162)gcG>gcA	p.A54A	EBP_ENST00000276096.6_3'UTR	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	54					cholesterol biosynthetic process (GO:0006695)|cholesterol metabolic process (GO:0008203)|drug transmembrane transport (GO:0006855)|hemopoiesis (GO:0030097)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	C-8 sterol isomerase activity (GO:0000247)|cholestenol delta-isomerase activity (GO:0047750)|drug transmembrane transporter activity (GO:0015238)|steroid delta-isomerase activity (GO:0004769)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11					Tamoxifen(DB00675)	GTCGTGCTGCGGTTGTCCCAT	0.567																																					Ovarian(41;550 1000 33077 33474 52335)												0													200.0	167.0	178.0					X																	48382321		2203	4300	6503	SO:0001819	synonymous_variant	10682			Z37986	CCDS14300.1	Xp11.23-p11.22	2013-05-22	2001-11-28		ENSG00000147155	ENSG00000147155			3133	protein-coding gene	gene with protein product	"""3-beta-hydroxysteroid-delta-8,delta-7-isomerase"", ""Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)"", ""sterol 8-isomerase"""	300205	"""emopamil-binding protein (sterol isomerase)"""	CDPX2		7706302, 8938429	Standard	NM_006579		Approved	CPX, CPXD, CHO2	uc004djx.4	Q15125	OTTHUMG00000034482	ENST00000495186.1:c.162G>A	X.37:g.48382321G>A			Q6FGL3|Q6IBI9	Silent	SNP	pfam_EBP	p.A54	ENST00000495186.1	37	c.162	CCDS14300.1	X																																																																																			EBP	-	pfam_EBP		0.567	EBP-004	KNOWN	basic|appris_principal|CCDS	protein_coding	EBP	HGNC	protein_coding	OTTHUMT00000083372.1	G	NM_006579		48382321	+1	no_errors	ENST00000495186	ensembl	human	known	70_37	silent	SNP	0.000	A
RP11-652G5.1	0	genome.wustl.edu	37	16	32618889	32618889	+	RNA	SNP	T	T	C			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr16:32618889T>C	ENST00000562976.1	+	0	424																											GTCTGTGCTGTGGACACACCT	0.557																																																	0																																												0																															16.37:g.32618889T>C				RNA	SNP	-	NULL	ENST00000562976.1	37	NULL		16																																																																																			RP11-652G5.1	-	-		0.557	RP11-652G5.1-002	KNOWN	basic	processed_transcript	ENSG00000259966	Clone_based_vega_gene	pseudogene	OTTHUMT00000432347.1	T			32618889	+1	no_errors	ENST00000562976	ensembl	human	known	70_37	rna	SNP	0.000	C
RP11-856M7.6	0	genome.wustl.edu	37	18	10628565	10628565	+	lincRNA	SNP	G	G	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr18:10628565G>T	ENST00000584734.1	-	0	0				RP11-856M7.4_ENST00000579413.1_lincRNA																							AGAGAGCTTTGCTTGGTGTGG	0.567																																																	0																																												0																															18.37:g.10628565G>T				RNA	SNP	-	NULL	ENST00000584734.1	37	NULL		18																																																																																			RP11-856M7.4	-	-		0.567	RP11-856M7.6-002	KNOWN	basic	lincRNA	ENSG00000264072	Clone_based_vega_gene	lincRNA	OTTHUMT00000442468.1	G			10628565	-1	no_errors	ENST00000579413	ensembl	human	known	70_37	rna	SNP	0.001	T
SLC25A1P5	642290	genome.wustl.edu	37	19	28296624	28296624	+	RNA	SNP	G	G	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr19:28296624G>T	ENST00000592806.1	+	0	163																											GTTTGTTGGGGCTGTCCACTC	0.612																																																	0																																												0																															19.37:g.28296624G>T				RNA	SNP	-	NULL	ENST00000592806.1	37	NULL		19																																																																																			CTC-459F4.3	-	-		0.612	LLNLF-65H9.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000267575	Clone_based_vega_gene	processed_transcript	OTTHUMT00000452876.1	G			28296624	+1	no_errors	ENST00000585917	ensembl	human	known	70_37	rna	SNP	1.000	T
EP300	2033	genome.wustl.edu	37	22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399	Acetyl-CoA binding. {ECO:0000269|PubMed:24819397}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with histone. {ECO:0000269|PubMed:18273021}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	7	Substitution - Missense(7)	lung(3)|upper_aerodigestive_tract(1)|stomach(1)|central_nervous_system(1)|cervix(1)											98.0	93.0	95.0					22																	41565529		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4195G>A	22.37:g.41565529G>A	ENSP00000263253:p.Asp1399Asn		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.D1399N	ENST00000263253.7	37	c.4195	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998529	0.93227	.	.	ENSG00000100393	ENST00000263253	D	0.99422	-5.88	5.55	5.55	0.83447	.	0.000000	0.46758	D	0.000275	D	0.99743	0.9898	H	0.96633	3.855	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.97288	0.9922	10	0.87932	D	0	-10.979	19.5071	0.95124	0.0:0.0:1.0:0.0	.	1399	Q09472	EP300_HUMAN	N	1399	ENSP00000263253:D1399N	ENSP00000263253:D1399N	D	+	1	0	EP300	39895475	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.760000	0.98935	2.617000	0.88574	0.557000	0.71058	GAT	EP300	-	pfam_Histone_H3-K56_AcTrfase_RTT109		0.338	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429		41565529	+1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM69C	125704	genome.wustl.edu	37	18	72114391	72114391	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr18:72114391C>T	ENST00000343998.6	-	2	334	c.326G>A	c.(325-327)cGc>cAc	p.R109H	FAM69C_ENST00000400291.2_Intron	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	109						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|ovary(2)	5						GGGCCGGCCGCGCCAGTCGGC	0.667																																																	0													7.0	9.0	8.0					18																	72114391		688	1581	2269	SO:0001583	missense	125704			BC019628	CCDS42445.2	18q22.3	2012-08-03	2009-07-23	2009-07-23	ENSG00000187773	ENSG00000187773			31729	protein-coding gene	gene with protein product		614544	"""chromosome 18 open reading frame 51"""	C18orf51		21334309	Standard	NM_001044369		Approved		uc002llk.3	Q0P6D2	OTTHUMG00000156984	ENST00000343998.6:c.326G>A	18.37:g.72114391C>T	ENSP00000344331:p.Arg109His			Missense_Mutation	SNP	pfam_Uncharacterised_FAM69,superfamily_Kinase-like_dom	p.R109H	ENST00000343998.6	37	c.326	CCDS42445.2	18	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581050	0.28180	.	.	ENSG00000187773	ENST00000343998	T	0.43688	0.94	3.77	1.94	0.25998	.	.	.	.	.	T	0.30324	0.0761	L	0.43923	1.385	0.39693	D	0.97107	B	0.27594	0.182	B	0.16722	0.016	T	0.14868	-1.0457	9	0.41790	T	0.15	.	7.929	0.29891	0.0:0.7253:0.0:0.2747	.	109	Q0P6D2	FA69C_HUMAN	H	109	ENSP00000344331:R109H	ENSP00000344331:R109H	R	-	2	0	FAM69C	70265371	0.882000	0.30256	0.998000	0.56505	0.536000	0.34869	1.351000	0.34022	0.903000	0.36546	0.491000	0.48974	CGC	FAM69C	-	NULL		0.667	FAM69C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM69C	HGNC	protein_coding	OTTHUMT00000346971.2	C	XM_058931		72114391	-1	no_errors	ENST00000343998	ensembl	human	known	70_37	missense	SNP	0.997	T
FAT1	2195	genome.wustl.edu	37	4	187554882	187554882	+	Frame_Shift_Del	DEL	G	G	-			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr4:187554882delG	ENST00000441802.2	-	7	4488	c.4279delC	c.(4279-4281)ctcfs	p.L1427fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1427	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCGACTGTGAGGTTGTAGTTT	0.458										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													264.0	251.0	256.0					4																	187554882		2004	4173	6177	SO:0001589	frameshift_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4279delC	4.37:g.187554882delG	ENSP00000406229:p.Leu1427fs			Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L1427fs	ENST00000441802.2	37	c.4279	CCDS47177.1	4																																																																																			FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.458	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187554882	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
FBXW7	55294	genome.wustl.edu	37	4	153268138	153268138	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr4:153268138G>A	ENST00000281708.4	-	4	1899	c.670C>T	c.(670-672)Cga>Tga	p.R224*	FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R144*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R224*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R48*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R106*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R224*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	224					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R224*(5)|p.R106*(1)|p.R144*(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GATGTAATTCGGCGTCGTTGT	0.448			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	8	Substitution - Nonsense(7)|Unknown(1)	endometrium(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(1)											193.0	178.0	183.0					4																	153268138		2203	4300	6503	SO:0001587	stop_gained	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.670C>T	4.37:g.153268138G>A	ENSP00000281708:p.Arg224*		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R224*	ENST00000281708.4	37	c.670	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.218578	0.97385	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.83	3.09	0.35607	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-13.0477	9.5051	0.39042	0.0666:0.0:0.6691:0.2643	.	.	.	.	X	224;106;144;48	.	ENSP00000263981:R144X	R	-	1	2	FBXW7	153487588	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	4.504000	0.60414	0.338000	0.23692	-0.309000	0.09137	CGA	FBXW7	-	NULL		0.448	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153268138	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	nonsense	SNP	1.000	A
FGF14	2259	genome.wustl.edu	37	13	102375254	102375254	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr13:102375254G>A	ENST00000376143.4	-	5	670	c.671C>T	c.(670-672)aCg>aTg	p.T224M	ITGBL1_ENST00000415285.1_3'UTR|FGF14_ENST00000376131.4_Missense_Mutation_p.T229M	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	224					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)	p.T224M(1)|p.T229M(1)		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)					TTTACTTGGCGTCACCCCAGG	0.473																																																	2	Substitution - Missense(2)	large_intestine(2)											267.0	201.0	224.0					13																	102375254		2203	4300	6503	SO:0001583	missense	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.671C>T	13.37:g.102375254G>A	ENSP00000365313:p.Thr224Met		Q86YN7|Q96QX6	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.T229M	ENST00000376143.4	37	c.686	CCDS9501.1	13	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925108	0.73213	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	T;T	0.79454	-1.27;-1.19	5.65	5.65	0.86999	.	0.181513	0.52532	D	0.000065	T	0.82268	0.5000	L	0.32530	0.975	0.54753	D	0.999989	D;D	0.76494	0.999;0.982	P;P	0.61397	0.888;0.684	D	0.83575	0.0114	10	0.66056	D	0.02	.	19.7432	0.96238	0.0:0.0:1.0:0.0	.	229;224	Q92915-2;Q92915	.;FGF14_HUMAN	M	229;224	ENSP00000365301:T229M;ENSP00000365313:T224M	ENSP00000365301:T229M	T	-	2	0	FGF14	101173255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.663000	0.90544	0.563000	0.77884	ACG	FGF14	-	NULL		0.473	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF14	HGNC	protein_coding	OTTHUMT00000045679.2	G			102375254	-1	no_errors	ENST00000376131	ensembl	human	known	70_37	missense	SNP	1.000	A
FMNL1	752	genome.wustl.edu	37	17	43315977	43315977	+	Missense_Mutation	SNP	G	G	A	rs146945062		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr17:43315977G>A	ENST00000331495.3	+	10	1277	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000592006.1_3'UTR|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000587489.1_5'Flank|FMNL1_ENST00000328118.3_Missense_Mutation_p.R314Q	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	314	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GAATATTTCCGGAATGAGGAC	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21568	0.0		0.0	False		,,,				2504	0.0				GBM(164;1247 1997 8702 11086 51972)												0								G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	97.0	91.0	93.0		941	3.0	1.0	17	dbSNP_134	93	0,8600		0,0,4300	no	missense	FMNL1	NM_005892.3	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	314/1101	43315977	2,13004	2203	4300	6503	SO:0001583	missense	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.941G>A	17.37:g.43315977G>A	ENSP00000329219:p.Arg314Gln		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.R314Q	ENST00000331495.3	37	c.941	CCDS11497.1	17	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815968	0.50527	4.54E-4	0.0	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	D;D	0.83419	-1.72;-1.72	4.04	3.03	0.35002	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.650759	0.14802	N	0.297550	T	0.75481	0.3855	L	0.45352	1.415	0.30099	N	0.807625	B	0.02656	0.0	B	0.04013	0.001	T	0.67722	-0.5597	10	0.32370	T	0.25	.	10.3486	0.43920	0.1018:0.0:0.8982:0.0	.	314	O95466	FMNL_HUMAN	Q	314;314;32	ENSP00000327442:R314Q;ENSP00000329219:R314Q	ENSP00000327442:R314Q	R	+	2	0	FMNL1	40671760	0.990000	0.36364	0.996000	0.52242	0.988000	0.76386	2.400000	0.44504	0.974000	0.38366	0.400000	0.26472	CGG	FMNL1	-	pfam_Drf_FH3,superfamily_ARM-type_fold		0.587	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	G	NM_005892		43315977	+1	no_errors	ENST00000328118	ensembl	human	known	70_37	missense	SNP	0.996	A
FNDC1	84624	genome.wustl.edu	37	6	159621085	159621085	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr6:159621085G>A	ENST00000297267.9	+	3	562	c.362G>A	c.(361-363)cGt>cAt	p.R121H	FNDC1_ENST00000340366.6_Missense_Mutation_p.R121H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	121	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGAGTGAGCCGTCCTGTTTAC	0.478																																																	0													86.0	86.0	86.0					6																	159621085		1947	4140	6087	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.362G>A	6.37:g.159621085G>A	ENSP00000297267:p.Arg121His		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R121H	ENST00000297267.9	37	c.362	CCDS47512.1	6	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918618	0.73098	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.57436	0.4;0.4	5.95	5.95	0.96441	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.085770	0.50627	D	0.000113	T	0.48132	0.1483	N	0.14661	0.345	0.32908	D	0.51417	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57260	-0.7842	10	0.62326	D	0.03	-13.9375	15.8813	0.79207	0.0:0.0:1.0:0.0	.	121;121	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	121	ENSP00000297267:R121H;ENSP00000342460:R121H	ENSP00000297267:R121H	R	+	2	0	FNDC1	159541073	1.000000	0.71417	0.990000	0.47175	0.979000	0.70002	2.445000	0.44899	2.821000	0.97095	0.650000	0.86243	CGT	FNDC1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.478	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	G	NM_032532		159621085	+1	no_errors	ENST00000297267	ensembl	human	known	70_37	missense	SNP	0.986	A
GJD4	219770	genome.wustl.edu	37	10	35897248	35897248	+	Silent	SNP	C	C	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr10:35897248C>T	ENST00000321660.1	+	2	965	c.807C>T	c.(805-807)cgC>cgT	p.R269R	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	269			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CGGGTGCACGCGCCGGAGGGG	0.706																																																	0													8.0	8.0	8.0					10																	35897248		2088	4118	6206	SO:0001819	synonymous_variant	219770			AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"""Ion channels / Gap junction proteins (connexins)"""	23296	protein-coding gene	gene with protein product	"""connexin 40.1"""	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.807C>T	10.37:g.35897248C>T			Q8N2R7	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.R269	ENST00000321660.1	37	c.807	CCDS7191.1	10																																																																																			GJD4	-	NULL		0.706	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJD4	HGNC	protein_coding	OTTHUMT00000047576.1	C	NM_153368		35897248	+1	no_errors	ENST00000321660	ensembl	human	known	70_37	silent	SNP	0.001	T
GRID1	2894	genome.wustl.edu	37	10	87484146	87484146	+	Silent	SNP	G	G	A	rs200091837		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr10:87484146G>A	ENST00000327946.7	-	11	1906	c.1821C>T	c.(1819-1821)agC>agT	p.S607S	GRID1_ENST00000536331.1_Silent_p.S178S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	607					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.S607S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TCCAGATGGCGCTGTGCAGAG	0.527										Multiple Myeloma(13;0.14)																																							1	Substitution - coding silent(1)	central_nervous_system(1)											46.0	46.0	46.0					10																	87484146		2203	4300	6503	SO:0001819	synonymous_variant	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1821C>T	10.37:g.87484146G>A			B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S607	ENST00000327946.7	37	c.1821	CCDS31236.1	10																																																																																			GRID1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.527	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	G	XM_043613		87484146	-1	no_errors	ENST00000327946	ensembl	human	known	70_37	silent	SNP	0.803	A
GRM1	2911	genome.wustl.edu	37	6	146480687	146480687	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr6:146480687G>A	ENST00000282753.1	+	2	1139	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	GRM1_ENST00000392299.2_Missense_Mutation_p.A302T|GRM1_ENST00000355289.4_Missense_Mutation_p.A302T|GRM1_ENST00000361719.2_Missense_Mutation_p.A302T|GRM1_ENST00000492807.2_Missense_Mutation_p.A302T|GRM1_ENST00000507907.1_Missense_Mutation_p.A302T			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	302					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ACTCCTGAGCGCCATGCGGCG	0.557																																																	0													73.0	70.0	71.0					6																	146480687		2203	4300	6503	SO:0001583	missense	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.904G>A	6.37:g.146480687G>A	ENSP00000282753:p.Ala302Thr		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.A302T	ENST00000282753.1	37	c.904	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.734577	0.96865	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91489	0.7313	M	0.79011	2.435	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.71870	0.957;0.916;0.975;0.957	D	0.92266	0.5821	10	0.87932	D	0	.	18.9966	0.92815	0.0:0.0:1.0:0.0	.	302;302;297;302	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	T	302	ENSP00000354896:A302T;ENSP00000376119:A302T;ENSP00000424095:A302T;ENSP00000282753:A302T;ENSP00000347437:A302T;ENSP00000425599:A302T	ENSP00000282753:A302T	A	+	1	0	GRM1	146522380	1.000000	0.71417	0.974000	0.42286	0.991000	0.79684	9.415000	0.97375	2.495000	0.84180	0.655000	0.94253	GCC	GRM1	-	pfam_ANF_lig-bd_rcpt		0.557	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	G	NM_000838		146480687	+1	no_errors	ENST00000282753	ensembl	human	known	70_37	missense	SNP	1.000	A
GUK1	2987	genome.wustl.edu	37	1	228335273	228335273	+	Intron	SNP	G	G	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr1:228335273G>T	ENST00000366718.1	+	5	817				GUK1_ENST00000391865.3_Intron|GJC2_ENST00000366714.2_5'Flank|GUK1_ENST00000366716.1_Intron|GUK1_ENST00000366726.1_Intron|GUK1_ENST00000366723.1_Intron|GUK1_ENST00000470040.1_Intron|GUK1_ENST00000366721.1_Intron|GUK1_ENST00000366728.2_Intron|GUK1_ENST00000366722.1_Intron|GUK1_ENST00000366730.1_Intron|GUK1_ENST00000312726.4_Intron	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1						ATP metabolic process (GO:0046034)|dATP metabolic process (GO:0046060)|dGDP biosynthetic process (GO:0006185)|dGMP metabolic process (GO:0046054)|drug metabolic process (GO:0017144)|GDP biosynthetic process (GO:0046711)|GDP-mannose metabolic process (GO:0019673)|glycoprotein transport (GO:0034436)|GMP metabolic process (GO:0046037)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide metabolic process (GO:0006163)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				TTGGGGGCTGGGGGCCAGGGC	0.642																																																	0													76.0	78.0	77.0					1																	228335273		2203	4299	6502	SO:0001627	intron_variant	2987			BC006249	CCDS1568.1, CCDS53481.1, CCDS55689.1	1q32-q41	2012-10-02			ENSG00000143774	ENSG00000143774	2.7.4.8		4693	protein-coding gene	gene with protein product		139270				8647247	Standard	NM_000858		Approved		uc021pkf.1	Q16774	OTTHUMG00000039503	ENST00000366718.1:c.390+28G>T	1.37:g.228335273G>T			B1ANH1	RNA	SNP	-	NULL	ENST00000366718.1	37	NULL	CCDS1568.1	1																																																																																			GUK1	-	-		0.642	GUK1-021	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	GUK1	HGNC	protein_coding	OTTHUMT00000095944.1	G	NM_000858		228335273	+1	no_errors	ENST00000477206	ensembl	human	known	70_37	rna	SNP	0.015	T
GZMA	3001	genome.wustl.edu	37	5	54403737	54403737	+	Missense_Mutation	SNP	C	C	T	rs150441571	byFrequency	TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr5:54403737C>T	ENST00000274306.6	+	3	366	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	111	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CCCAGCCACACGCGAAGGTGA	0.443													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17112	0.0		0.0	False		,,,				2504	0.0																0								C	CYS/ARG	7,4399	12.9+/-30.5	0,7,2196	123.0	118.0	120.0		331	2.6	0.0	5	dbSNP_134	120	0,8600		0,0,4300	yes	missense	GZMA	NM_006144.3	180	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	probably-damaging	111/263	54403737	7,12999	2203	4300	6503	SO:0001583	missense	3001				CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"""CTL tryptase"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"""	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.331C>T	5.37:g.54403737C>T	ENSP00000274306:p.Arg111Cys		A4PHN1|Q6IB36	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R111C	ENST00000274306.6	37	c.331	CCDS3965.1	5	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218927	0.39201	0.001589	0.0	ENSG00000145649	ENST00000274306	D	0.88664	-2.41	5.5	2.64	0.31445	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.840125	0.11103	N	0.599416	D	0.86393	0.5922	L	0.49778	1.585	0.09310	N	1	D	0.65815	0.995	P	0.48304	0.573	T	0.75508	-0.3293	10	0.40728	T	0.16	.	5.8772	0.18836	0.3972:0.4552:0.0:0.1476	.	111	P12544	GRAA_HUMAN	C	111	ENSP00000274306:R111C	ENSP00000274306:R111C	R	+	1	0	GZMA	54439494	0.000000	0.05858	0.027000	0.17364	0.004000	0.04260	-0.070000	0.11523	0.870000	0.35726	0.655000	0.94253	CGC	GZMA	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.443	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMA	HGNC	protein_coding	OTTHUMT00000214100.2	C	NM_006144		54403737	+1	no_errors	ENST00000274306	ensembl	human	known	70_37	missense	SNP	0.022	T
HNRNPA2B1	3181	genome.wustl.edu	37	7	26235495	26235495	+	Silent	SNP	G	G	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr7:26235495G>T	ENST00000354667.4	-	8	897	c.729C>A	c.(727-729)ggC>ggA	p.G243G	HNRNPA2B1_ENST00000356674.7_Silent_p.G231G	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	243	Gly-rich.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ACCCATTATAGCCATCCCCAA	0.363			T	ETV1	prostate																																			Dom	yes		7	7p15	3181	heterogeneous nuclear ribonucleoprotein A2/B1		E	0													115.0	99.0	105.0					7																	26235495		2203	4300	6503	SO:0001819	synonymous_variant	3181			D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.729C>A	7.37:g.26235495G>T			A8K064|P22627|Q9UC98|Q9UDJ2	Silent	SNP	pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom	p.G243	ENST00000354667.4	37	c.729	CCDS43557.1	7																																																																																			HNRNPA2B1	-	NULL		0.363	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	HNRNPA2B1	HGNC	protein_coding	OTTHUMT00000214109.1	G	NM_002137		26235495	-1	no_errors	ENST00000354667	ensembl	human	known	70_37	silent	SNP	1.000	T
INSRR	3645	genome.wustl.edu	37	1	156811515	156811515	+	Missense_Mutation	SNP	G	G	A	rs201172210		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr1:156811515G>A	ENST00000368195.3	-	20	3865	c.3469C>T	c.(3469-3471)Cgc>Tgc	p.R1157C	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCATCCAGCGCACGGGCAGC	0.627																																																	0								G	,CYS/ARG	0,4406		0,0,2203	79.0	75.0	77.0		,3469	5.1	1.0	1		77	3,8597	3.0+/-9.4	0,3,4297	yes	intron,missense	INSRR,NTRK1	NM_001007792.1,NM_014215.2	,180	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,probably-damaging	,1157/1298	156811515	3,13003	2203	4300	6503	SO:0001583	missense	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.3469C>T	1.37:g.156811515G>A	ENSP00000357178:p.Arg1157Cys		O60724|Q5VZS3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R1157C	ENST00000368195.3	37	c.3469	CCDS1160.1	1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885533	0.72410	0.0	3.49E-4	ENSG00000027644	ENST00000368195	D	0.83755	-1.76	5.07	5.07	0.68467	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000245	D	0.88746	0.6520	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89679	0.3889	9	0.87932	D	0	.	12.2864	0.54795	0.0:0.0:0.8305:0.1695	.	1157	P14616	INSRR_HUMAN	C	1157	ENSP00000357178:R1157C	ENSP00000357178:R1157C	R	-	1	0	INSRR	155078139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.247000	0.58750	2.639000	0.89480	0.561000	0.74099	CGC	INSRR	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.627	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1	G	NM_014215		156811515	-1	no_errors	ENST00000368195	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNA6	3742	genome.wustl.edu	37	12	4919592	4919592	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr12:4919592G>A	ENST00000280684.3	+	1	1251	c.385G>A	c.(385-387)Gag>Aag	p.E129K	KCNA6_ENST00000433855.1_Missense_Mutation_p.E129K|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	129					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.E129K(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GCTGGGGGACGAGGCCCTGGC	0.682										HNSCC(72;0.22)																																							1	Substitution - Missense(1)	lung(1)											37.0	42.0	40.0					12																	4919592		2203	4300	6503	SO:0001583	missense	3742			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.385G>A	12.37:g.4919592G>A	ENSP00000280684:p.Glu129Lys			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.E129K	ENST00000280684.3	37	c.385	CCDS8534.1	12	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503360	0.85176	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.76709	-1.04;-1.04	4.69	3.78	0.43462	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.107615	0.64402	D	0.000010	T	0.76357	0.3976	M	0.82132	2.575	0.51767	D	0.999936	P	0.45569	0.861	B	0.38296	0.27	T	0.77316	-0.2633	10	0.35671	T	0.21	.	13.8564	0.63529	0.0:0.154:0.846:0.0	.	129	P17658	KCNA6_HUMAN	K	129	ENSP00000408321:E129K;ENSP00000280684:E129K	ENSP00000280684:E129K	E	+	1	0	KCNA6	4789853	1.000000	0.71417	0.613000	0.29037	0.994000	0.84299	9.499000	0.97975	1.146000	0.42352	0.563000	0.77884	GAG	KCNA6	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1		0.682	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	G	NM_002235		4919592	+1	no_errors	ENST00000280684	ensembl	human	known	70_37	missense	SNP	1.000	A
CEP162	22832	genome.wustl.edu	37	6	84884516	84884516	+	Missense_Mutation	SNP	T	T	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr6:84884516T>A	ENST00000403245.3	-	15	2069	c.1955A>T	c.(1954-1956)gAa>gTa	p.E652V	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.E576V	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CTTTAGTTCTTCCAACTTATT	0.348																																																	0													74.0	67.0	69.0					6																	84884516		2203	4299	6502	SO:0001583	missense	22832																														ENST00000403245.3:c.1955A>T	6.37:g.84884516T>A	ENSP00000385215:p.Glu652Val			Missense_Mutation	SNP	NULL	p.E652V	ENST00000403245.3	37	c.1955	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	T	16.19	3.054128	0.55218	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.21361	2.01;2.02	5.42	5.42	0.78866	.	0.160134	0.44097	D	0.000498	T	0.24392	0.0591	M	0.62723	1.935	0.28617	N	0.908386	D	0.76494	0.999	D	0.65443	0.935	T	0.13388	-1.0511	10	0.42905	T	0.14	-9.8	8.1243	0.30988	0.1251:0.0:0.1459:0.7291	.	652	Q5TB80	QN1_HUMAN	V	576;652	ENSP00000257766:E576V;ENSP00000385215:E652V	ENSP00000257766:E576V	E	-	2	0	KIAA1009	84941235	0.994000	0.37717	1.000000	0.80357	0.848000	0.48234	1.733000	0.38156	2.184000	0.69523	0.460000	0.39030	GAA	KIAA1009	-	NULL		0.348	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	T			84884516	-1	no_errors	ENST00000403245	ensembl	human	known	70_37	missense	SNP	1.000	A
KIFC2	90990	genome.wustl.edu	37	8	145694209	145694209	+	Missense_Mutation	SNP	C	C	T	rs368447948		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr8:145694209C>T	ENST00000301332.2	+	10	1482	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	KIFC2_ENST00000301331.5_Missense_Mutation_p.R117W	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	369					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GAGTGAGGCCCGGGGCCAGGT	0.642																																																	0								C	TRP/ARG	0,4406		0,0,2203	53.0	58.0	56.0		1105	3.3	1.0	8		56	1,8599		0,1,4299	no	missense	KIFC2	NM_145754.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	369/839	145694209	1,13005	2203	4300	6503	SO:0001583	missense	90990			AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1105C>T	8.37:g.145694209C>T	ENSP00000301332:p.Arg369Trp		E9PHB2|Q96NN6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.R369W	ENST00000301332.2	37	c.1105	CCDS6427.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.66|16.66	3.185093|3.185093	0.57909|0.57909	0.0|0.0	1.16E-4|1.16E-4	ENSG00000167702|ENSG00000167702	ENST00000528415|ENST00000301332;ENST00000301331	.|T;T	.|0.73363	.|-0.65;-0.74	4.26|4.26	3.35|3.35	0.38373|0.38373	.|.	.|.	.|.	.|.	.|.	T|T	0.59770|0.59770	0.2218|0.2218	N|N	0.14661|0.14661	0.345|0.345	0.26631|0.26631	N|N	0.972477|0.972477	.|D	.|0.63880	.|0.993	.|B	.|0.44315	.|0.446	T|T	0.53315|0.53315	-0.8456|-0.8456	5|9	.|0.87932	.|D	.|0	-0.5972|-0.5972	9.2354|9.2354	0.37464|0.37464	0.2167:0.7833:0.0:0.0|0.2167:0.7833:0.0:0.0	.|.	.|369	.|Q96AC6	.|KIFC2_HUMAN	L|W	189|369;117	.|ENSP00000301332:R369W;ENSP00000301331:R117W	.|ENSP00000301331:R117W	P|R	+|+	2|1	0|2	KIFC2|KIFC2	145665017|145665017	0.073000|0.073000	0.21202|0.21202	0.953000|0.953000	0.39169|0.39169	0.976000|0.976000	0.68499|0.68499	1.320000|1.320000	0.33666|0.33666	0.750000|0.750000	0.32877|0.32877	0.556000|0.556000	0.70494|0.70494	CCG|CGG	KIFC2	-	NULL		0.642	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC2	HGNC	protein_coding	OTTHUMT00000382052.2	C	NM_145754		145694209	+1	no_errors	ENST00000301332	ensembl	human	known	70_37	missense	SNP	0.930	T
LRP1B	53353	genome.wustl.edu	37	2	141625763	141625763	+	Silent	SNP	C	C	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr2:141625763C>T	ENST00000389484.3	-	26	5210	c.4239G>A	c.(4237-4239)ggG>ggA	p.G1413G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1413					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGTTTTTCTCCCAGCACCAC	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													101.0	97.0	99.0					2																	141625763		2203	4300	6503	SO:0001819	synonymous_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4239G>A	2.37:g.141625763C>T			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G1413	ENST00000389484.3	37	c.4239	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	C	NM_018557		141625763	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	silent	SNP	0.023	T
MAP1B	4131	genome.wustl.edu	37	5	71493117	71493117	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr5:71493117G>T	ENST00000296755.7	+	5	4233	c.3935G>T	c.(3934-3936)aGt>aTt	p.S1312I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1312					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CATTGTGCTAGTCCTGAGGAC	0.502																																					Melanoma(17;367 822 11631 31730 47712)												0													57.0	53.0	54.0					5																	71493117		2203	4300	6503	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3935G>T	5.37:g.71493117G>T	ENSP00000296755:p.Ser1312Ile		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.S1312I	ENST00000296755.7	37	c.3935	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508976	0.64410	.	.	ENSG00000131711	ENST00000296755	T	0.05580	3.42	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.00521	-1.1691	10	0.87932	D	0	-11.8777	20.1772	0.98182	0.0:0.0:1.0:0.0	.	1186;1312	A2BDK6;P46821	.;MAP1B_HUMAN	I	1312	ENSP00000296755:S1312I	ENSP00000296755:S1312I	S	+	2	0	MAP1B	71528873	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.778000	0.95560	0.655000	0.94253	AGT	MAP1B	-	NULL		0.502	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	G	NM_005909		71493117	+1	no_errors	ENST00000296755	ensembl	human	known	70_37	missense	SNP	1.000	T
MBL1P	8512	genome.wustl.edu	37	10	81680522	81680522	+	RNA	SNP	C	C	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr10:81680522C>T	ENST00000480805.1	+	0	589					NR_002724.2				mannose-binding lectin (protein A) 1, pseudogene																		AGAGGGGTGTCCTGCCTGGTT	0.562																																																	0																																												8512			AF019382		10q22.3	2012-11-02	2009-12-02	2009-12-02	ENSG00000242600	ENSG00000242600		"""Collectins"""	6921	pseudogene	pseudogene			"""mannose-binding lectin (protein A) 1, pseudogene 1"""	MBL1P1		9501312	Standard	NR_002724		Approved	COLEC3P	uc001kbg.1		OTTHUMG00000018595		10.37:g.81680522C>T				RNA	SNP	-	NULL	ENST00000480805.1	37	NULL		10																																																																																			MBL1P	-	-		0.562	MBL1P-001	KNOWN	basic	processed_transcript	MBL1P	HGNC	pseudogene	OTTHUMT00000049017.1	C			81680522	+1	no_errors	ENST00000480805	ensembl	human	known	70_37	rna	SNP	0.000	T
METTL25	84190	genome.wustl.edu	37	12	82850511	82850511	+	Missense_Mutation	SNP	G	G	T	rs377321617		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr12:82850511G>T	ENST00000248306.3	+	9	1553	c.1484G>T	c.(1483-1485)cGg>cTg	p.R495L	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	495							methyltransferase activity (GO:0008168)										TACAGTGATCGGCATGTTGGT	0.279																																																	0													70.0	66.0	68.0					12																	82850511		2200	4296	6496	SO:0001583	missense	84190			BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1484G>T	12.37:g.82850511G>T	ENSP00000248306:p.Arg495Leu		Q9H5Y3	Missense_Mutation	SNP	NULL	p.R495L	ENST00000248306.3	37	c.1484	CCDS9024.1	12	.	.	.	.	.	.	.	.	.	.	G	10.97	1.502067	0.26949	.	.	ENSG00000127720	ENST00000248306	T	0.34472	1.36	5.86	-5.09	0.02920	.	0.585657	0.17582	N	0.169066	T	0.18759	0.0450	N	0.17312	0.475	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.12451	-1.0547	10	0.25751	T	0.34	0.018	14.168	0.65490	0.402:0.0:0.598:0.0	.	495	Q8N6Q8	CL026_HUMAN	L	495	ENSP00000248306:R495L	ENSP00000248306:R495L	R	+	2	0	C12orf26	81374642	0.000000	0.05858	0.085000	0.20634	0.597000	0.36814	-0.425000	0.07017	-0.846000	0.04174	-1.000000	0.02509	CGG	METTL25	-	NULL		0.279	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL25	HGNC	protein_coding	OTTHUMT00000408192.1	G	NM_032230		82850511	+1	no_errors	ENST00000248306	ensembl	human	known	70_37	missense	SNP	0.001	T
MGAM	8972	genome.wustl.edu	37	7	141794262	141794262	+	Intron	SNP	C	C	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr7:141794262C>T	ENST00000549489.2	+	39	4713				MGAM_ENST00000475668.2_Missense_Mutation_p.T2424I	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGAGACAACACAGCCGCGTGG	0.617																																																	0																																										SO:0001627	intron_variant	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4619-158C>T	7.37:g.141794262C>T			Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.T2425I	ENST00000549489.2	37	c.7274	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	C	4.764	0.142036	0.09083	.	.	ENSG00000257335	ENST00000475668	.	.	.	5.15	4.25	0.50352	.	.	.	.	.	T	0.34106	0.0886	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.19516	-1.0303	5	0.22109	T	0.4	.	10.385	0.44134	0.1514:0.7023:0.1464:0.0	.	.	.	.	I	2425	.	ENSP00000417515:T2425I	T	+	2	0	MGAM	141440731	0.390000	0.25213	0.842000	0.33263	0.228000	0.25075	1.016000	0.29976	1.253000	0.44018	0.655000	0.94253	ACA	MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.617	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	C			141794262	+1	no_errors	ENST00000475668	ensembl	human	putative	70_37	missense	SNP	0.343	T
MYO5C	55930	genome.wustl.edu	37	15	52569361	52569361	+	Intron	SNP	C	C	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr15:52569361C>A	ENST00000261839.7	-	5	611				MYO5C_ENST00000443683.2_Intron|MYO5C_ENST00000541028.1_Intron|MIR1266_ENST00000408125.1_RNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC							extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		tttagtaatcccagccctgtt	0.483																																																	0													33.0	30.0	31.0					15																	52569361		1559	3575	5134	SO:0001627	intron_variant	100302202			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.450-1446G>T	15.37:g.52569361C>A			Q6P1W8	RNA	SNP	-	NULL	ENST00000261839.7	37	NULL	CCDS42036.1	15																																																																																			MIR1266	-	-		0.483	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR1266	HGNC	protein_coding	OTTHUMT00000419562.1	C	NM_018728		52569361	-1	no_errors	ENST00000408125	ensembl	human	known	70_37	rna	SNP	0.000	A
MIR3689A	100500846	genome.wustl.edu	37	9	137741346	137741346	+	RNA	SNP	A	A	G	rs377205561		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr9:137741346A>G	ENST00000578854.1	-	0	64				MIR3689D2_ENST00000580187.1_RNA|MIR3689D1_ENST00000579706.1_RNA|AL603650.1_ENST00000583957.1_RNA|AL603650.4_ENST00000583817.1_RNA|MIR3689C_ENST00000581239.1_RNA|AL603650.3_ENST00000582742.1_RNA|MIR3689B_ENST00000581772.1_RNA|MIR3689E_ENST00000582479.1_RNA|MIR3689F_ENST00000579617.1_RNA|AL603650.2_ENST00000581079.1_RNA	NR_037460.1				microRNA 3689a																		AGGAACCACGATATCACACCT	0.597																																																	0																																												100500846					9	2011-09-12				ENSG00000265872		"""ncRNAs / Micro RNAs"""	38904	non-coding RNA	RNA, micro							Standard	NR_037460		Approved	hsa-mir-3689a	uc022bpb.1				9.37:g.137741346A>G				RNA	SNP	-	NULL	ENST00000578854.1	37	NULL		9																																																																																			MIR3689A	-	-		0.597	MIR3689A-201	KNOWN	basic	miRNA	MIR3689A	HGNC	miRNA		A	NR_037460		137741346	-1	no_errors	ENST00000578854	ensembl	human	known	70_37	rna	SNP	0.000	G
MUC5B	727897	genome.wustl.edu	37	11	1269975	1269975	+	Silent	SNP	G	G	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr11:1269975G>A	ENST00000529681.1	+	31	11923	c.11865G>A	c.(11863-11865)acG>acA	p.T3955T	MUC5B_ENST00000447027.1_Silent_p.T3958T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3955	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ctacgatcacggccaccggct	0.617																																																	0													82.0	111.0	101.0					11																	1269975		1921	3893	5814	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11865G>A	11.37:g.1269975G>A			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T3958	ENST00000529681.1	37	c.11874	CCDS44515.2	11																																																																																			MUC5B	-	NULL		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	G	XM_001126093		1269975	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	0.000	A
MYH1	4619	genome.wustl.edu	37	17	10398340	10398340	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr17:10398340G>T	ENST00000226207.5	-	37	5468	c.5374C>A	c.(5374-5376)Cag>Aag	p.Q1792K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1792					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCACCGTCTGTTCCAGGTTC	0.552																																																	0													153.0	146.0	148.0					17																	10398340		2203	4300	6503	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5374C>A	17.37:g.10398340G>T	ENSP00000226207:p.Gln1792Lys		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1792K	ENST00000226207.5	37	c.5374	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984244	0.74474	.	.	ENSG00000109061	ENST00000226207	T	0.79454	-1.27	5.26	5.26	0.73747	Myosin tail (1);	0.000000	0.41194	U	0.000936	D	0.83820	0.5337	M	0.92412	3.305	0.41023	D	0.985096	P	0.37612	0.602	B	0.35770	0.21	D	0.87200	0.2240	10	0.56958	D	0.05	.	19.2282	0.93825	0.0:0.0:1.0:0.0	.	1792	P12882	MYH1_HUMAN	K	1792	ENSP00000226207:Q1792K	ENSP00000226207:Q1792K	Q	-	1	0	MYH1	10339065	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	2.751000	0.47508	2.616000	0.88540	0.561000	0.74099	CAG	MYH1	-	pfam_Myosin_tail		0.552	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	G	NM_005963		10398340	-1	no_errors	ENST00000226207	ensembl	human	known	70_37	missense	SNP	1.000	T
NAALAD2	10003	genome.wustl.edu	37	11	89891408	89891408	+	Splice_Site	SNP	T	T	C			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr11:89891408T>C	ENST00000534061.1	+	7	1120		c.e7+2		NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000321955.4_Splice_Site	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2						neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATTATTACGGTATAGTTTTCT	0.323																																																	0													79.0	82.0	81.0					11																	89891408		2201	4295	6496	SO:0001630	splice_region_variant	10003			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.890+2T>C	11.37:g.89891408T>C			B3KQR4|Q4KKV4|Q4VAM9	Splice_Site	SNP	-	e7+2	ENST00000534061.1	37	c.890+2	CCDS8288.1	11	.	.	.	.	.	.	.	.	.	.	T	18.35	3.603990	0.66445	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3582	0.74443	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAALAD2	89531056	1.000000	0.71417	0.978000	0.43139	0.714000	0.41099	6.416000	0.73332	2.051000	0.60960	0.473000	0.43528	.	NAALAD2	-	-		0.323	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	HGNC	protein_coding	OTTHUMT00000389424.2	T	NM_005467	Intron	89891408	+1	no_errors	ENST00000534061	ensembl	human	known	70_37	splice_site	SNP	1.000	C
NBEAL2	23218	genome.wustl.edu	37	3	47037080	47037080	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr3:47037080A>G	ENST00000450053.3	+	13	2034	c.1855A>G	c.(1855-1857)Acc>Gcc	p.T619A	NBEAL2_ENST00000292309.5_Missense_Mutation_p.T619A|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	619					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TACAGCACCTACCCCTGCCCC	0.632																																																	0													39.0	43.0	42.0					3																	47037080		2066	4201	6267	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.1855A>G	3.37:g.47037080A>G	ENSP00000415034:p.Thr619Ala		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T619A	ENST00000450053.3	37	c.1855	CCDS46817.1	3	.	.	.	.	.	.	.	.	.	.	A	0.363	-0.938219	0.02340	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.73363	-0.74;-0.74	4.53	0.292	0.15737	Concanavalin A-like lectin/glucanase (1);	1.082790	0.06966	N	0.817168	T	0.55257	0.1909	N	0.22421	0.69	0.18873	N	0.999988	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30534	-0.9975	10	0.15499	T	0.54	.	4.3709	0.11247	0.2241:0.3621:0.4138:0.0	.	585;619	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	A	619;619;585	ENSP00000292309:T619A;ENSP00000415034:T619A	ENSP00000292309:T619A	T	+	1	0	NBEAL2	47012084	0.002000	0.14202	0.002000	0.10522	0.067000	0.16453	1.243000	0.32767	-0.052000	0.13311	-0.242000	0.12053	ACC	NBEAL2	-	superfamily_ConA-like_lec_gl_sf		0.632	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	A	XM_291064		47037080	+1	no_errors	ENST00000450053	ensembl	human	known	70_37	missense	SNP	0.004	G
NGB	58157	genome.wustl.edu	37	14	77734848	77734848	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr14:77734848C>A	ENST00000298352.4	-	3	656	c.282G>T	c.(280-282)agG>agT	p.R94S	MIR1260A_ENST00000408827.1_RNA	NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	94	Globin.				apoptotic process (GO:0006915)|oxygen transport (GO:0015671)	mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CCCGGTGCTTCCTGCCCAGGC	0.597																																																	0													113.0	89.0	97.0					14																	77734848		2203	4300	6503	SO:0001583	missense	58157			AJ245946	CCDS9856.1	14q24.3	2014-06-13			ENSG00000165553	ENSG00000165553			14077	protein-coding gene	gene with protein product		605304				11029004, 17210637	Standard	NM_021257		Approved		uc001xtg.1	Q9NPG2	OTTHUMG00000171558	ENST00000298352.4:c.282G>T	14.37:g.77734848C>A	ENSP00000298352:p.Arg94Ser			Missense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin	p.R94S	ENST00000298352.4	37	c.282	CCDS9856.1	14	.	.	.	.	.	.	.	.	.	.	C	11.72	1.721341	0.30503	.	.	ENSG00000165553	ENST00000298352	D	0.92752	-3.1	4.44	3.55	0.40652	Globin-like (1);Globin, structural domain (1);	0.301356	0.38778	N	0.001565	D	0.88433	0.6435	L	0.56769	1.78	0.53005	D	0.999963	B	0.31837	0.342	B	0.36134	0.218	T	0.80937	-0.1159	10	0.14656	T	0.56	.	7.9411	0.29959	0.0:0.8058:0.0:0.1942	.	94	Q9NPG2	NGB_HUMAN	S	94	ENSP00000298352:R94S	ENSP00000298352:R94S	R	-	3	2	NGB	76804601	0.999000	0.42202	0.998000	0.56505	0.398000	0.30690	2.156000	0.42310	0.865000	0.35603	-0.339000	0.08088	AGG	NGB	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin		0.597	NGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGB	HGNC	protein_coding	OTTHUMT00000414194.1	C	NM_021257		77734848	-1	no_errors	ENST00000298352	ensembl	human	known	70_37	missense	SNP	1.000	A
NUP155	9631	genome.wustl.edu	37	5	37307504	37307504	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr5:37307504G>C	ENST00000231498.3	-	25	3001	c.2798C>G	c.(2797-2799)tCt>tGt	p.S933C	NUP155_ENST00000513532.1_Missense_Mutation_p.S869C|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.S874C	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	933					atrial cardiac muscle cell action potential (GO:0086014)|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 export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCCGTAAGAGAAAGTTCCAC	0.408																																																	0													90.0	84.0	86.0					5																	37307504		2203	4300	6503	SO:0001583	missense	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2798C>G	5.37:g.37307504G>C	ENSP00000231498:p.Ser933Cys		Q9UBE9|Q9UFL5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.S933C	ENST00000231498.3	37	c.2798	CCDS3921.1	5	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683873	0.29872	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.75367	-0.86;-0.86;-0.93	5.46	5.46	0.80206	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.045414	0.85682	D	0.000000	T	0.44973	0.1319	N	0.01267	-0.92	0.42502	D	0.992934	B;B	0.13594	0.008;0.001	B;B	0.18871	0.023;0.002	T	0.51741	-0.8667	10	0.06757	T	0.87	-3.2625	14.8689	0.70441	0.0:0.1431:0.8569:0.0	.	869;933	E9PF10;O75694	.;NU155_HUMAN	C	933;874;895;869	ENSP00000231498:S933C;ENSP00000371265:S874C;ENSP00000422019:S869C	ENSP00000231498:S933C	S	-	2	0	NUP155	37343261	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.788000	0.75105	2.567000	0.86603	0.655000	0.94253	TCT	NUP155	-	pfam_Nucleoporin_Nup133/Nup155_C		0.408	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	G	NM_153485, NM_004298		37307504	-1	no_errors	ENST00000231498	ensembl	human	known	70_37	missense	SNP	1.000	C
OPHN1	4983	genome.wustl.edu	37	X	67272420	67272420	+	Silent	SNP	C	C	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chrX:67272420C>T	ENST00000355520.5	-	23	2978	c.2337G>A	c.(2335-2337)agG>agA	p.R779R	OPHN1_ENST00000540071.1_Silent_p.R671R	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	779					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						AAAACCTGGTCCTGGAAGCCA	0.443																																																	0													182.0	143.0	156.0					X																	67272420		2203	4299	6502	SO:0001819	synonymous_variant	4983			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2337G>A	X.37:g.67272420C>T			B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R779	ENST00000355520.5	37	c.2337	CCDS14388.1	X																																																																																			OPHN1	-	NULL		0.443	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPHN1	HGNC	protein_coding	OTTHUMT00000057011.1	C	NM_002547		67272420	-1	no_errors	ENST00000355520	ensembl	human	known	70_37	silent	SNP	0.998	T
PAX1	5075	genome.wustl.edu	37	20	21686349	21686349	+	5'UTR	SNP	G	G	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr20:21686349G>A	ENST00000398485.2	+	0	53				PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_5'Flank	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1						bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TCTCCCAATCGGATGAAGTTC	0.682																																																	0													20.0	19.0	19.0					20																	21686349		692	1591	2283	SO:0001623	5_prime_UTR_variant	5075				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.-2G>A	20.37:g.21686349G>A			B4E0D6|Q642X9|Q6NTC0|Q9Y558	RNA	SNP	-	NULL	ENST00000398485.2	37	NULL	CCDS13146.2	20																																																																																			PAX1	-	-		0.682	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	G			21686349	+1	no_errors	ENST00000460221	ensembl	human	known	70_37	rna	SNP	1.000	A
PIEZO2	63895	genome.wustl.edu	37	18	10704486	10704486	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr18:10704486G>A	ENST00000503781.3	-	38	5824	c.5825C>T	c.(5824-5826)aCg>aTg	p.T1942M	PIEZO2_ENST00000302079.6_Missense_Mutation_p.T1942M|PIEZO2_ENST00000285141.4_5'Flank|PIEZO2_ENST00000538948.1_5'Flank|PIEZO2_ENST00000580640.1_Missense_Mutation_p.T1967M|RP11-856M7.2_ENST00000584167.1_RNA	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	1942					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										AAGCAGGAGCGTGATCATGGA	0.572																																																	0													113.0	106.0	109.0					18																	10704486		692	1591	2283	SO:0001583	missense	63895			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.5825C>T	18.37:g.10704486G>A	ENSP00000421377:p.Thr1942Met		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	pfam_DUF3595	p.T1967M	ENST00000503781.3	37	c.5900		18	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083000	0.36758	.	.	ENSG00000154864	ENST00000302079	T	0.26518	1.73	5.04	5.04	0.67666	.	.	.	.	.	T	0.51517	0.1679	M	0.77103	2.36	0.80722	D	1	.	.	.	.	.	.	T	0.57183	-0.7855	7	0.87932	D	0	.	18.7554	0.91830	0.0:0.0:1.0:0.0	.	.	.	.	M	1942	ENSP00000303316:T1942M	ENSP00000303316:T1942M	T	-	2	0	FAM38B	10694486	1.000000	0.71417	0.968000	0.41197	0.812000	0.45895	7.511000	0.81718	2.502000	0.84385	0.650000	0.86243	ACG	PIEZO2	-	NULL		0.572	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	G	NM_022068		10704486	-1	no_errors	ENST00000580640	ensembl	human	novel	70_37	missense	SNP	1.000	A
PPARD	5467	genome.wustl.edu	37	6	35393787	35393787	+	Silent	SNP	G	G	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr6:35393787G>T	ENST00000311565.4	+	9	1606	c.1257G>T	c.(1255-1257)cgG>cgT	p.R419R	PPARD_ENST00000540939.1_Silent_p.R316R|PPARD_ENST00000360694.3_Silent_p.R419R|PPARD_ENST00000418635.2_Silent_p.R321R|PPARD_ENST00000448077.2_Silent_p.R380R	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	419	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TGATGCAGCGGATCAAGAAGA	0.602																																																	0													104.0	88.0	94.0					6																	35393787		2203	4300	6503	SO:0001819	synonymous_variant	5467			L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.1257G>T	6.37:g.35393787G>T			A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,pfscan_Znf_hrmn_rcpt	p.R419	ENST00000311565.4	37	c.1257	CCDS4803.1	6																																																																																			PPARD	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd		0.602	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARD	HGNC	protein_coding	OTTHUMT00000040288.1	G	NM_006238		35393787	+1	no_errors	ENST00000311565	ensembl	human	known	70_37	silent	SNP	0.975	T
PIM1	5292	genome.wustl.edu	37	6	37138993	37138993	+	Silent	SNP	G	G	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr6:37138993G>A	ENST00000373509.5	+	4	706	c.333G>A	c.(331-333)gaG>gaA	p.E111E		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	202					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	ACTGGTTCGAGAGGCCCGACA	0.607			T	BCL6	NHL																																			Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	0													90.0	100.0	97.0					6																	37138993		2203	4300	6503	SO:0001819	synonymous_variant	5292				CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"""pim-1 oncogene"""	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.333G>A	6.37:g.37138993G>A			Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E111	ENST00000373509.5	37	c.333	CCDS4830.1	6																																																																																			PIM1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.607	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM1	HGNC	protein_coding	OTTHUMT00000043903.1	G			37138993	+1	no_errors	ENST00000373509	ensembl	human	known	70_37	silent	SNP	1.000	A
RIT1	6016	genome.wustl.edu	37	1	155874117	155874117	+	Silent	SNP	G	G	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr1:155874117G>T	ENST00000368323.3	-	5	618	c.414C>A	c.(412-414)ctC>ctA	p.L138L	RIT1_ENST00000368322.3_Silent_p.L155L|RIT1_ENST00000539040.1_Silent_p.L102L	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	138					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			TTAGCTGTTTGAGGTCTGACT	0.393																																																	0													112.0	100.0	104.0					1																	155874117		2203	4300	6503	SO:0001819	synonymous_variant	6016			AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.414C>A	1.37:g.155874117G>T			B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L138	ENST00000368323.3	37	c.414	CCDS1123.1	1																																																																																			RIT1	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.393	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIT1	HGNC	protein_coding	OTTHUMT00000039593.1	G	NM_006912		155874117	-1	no_errors	ENST00000368323	ensembl	human	known	70_37	silent	SNP	0.006	T
RTN1	6252	genome.wustl.edu	37	14	60212965	60212965	+	Missense_Mutation	SNP	C	C	A	rs200207910		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr14:60212965C>A	ENST00000267484.5	-	2	811	c.476G>T	c.(475-477)cGt>cTt	p.R159L		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	159					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AAATAAGCCACGAGACTCTAT	0.507																																																	0													66.0	68.0	67.0					14																	60212965		2203	4300	6503	SO:0001583	missense	6252			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.476G>T	14.37:g.60212965C>A	ENSP00000267484:p.Arg159Leu		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.R159L	ENST00000267484.5	37	c.476	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	C	8.380	0.837301	0.16891	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.27104	1.69	5.48	-11.0	0.00169	.	1.144020	0.06165	N	0.676578	T	0.18467	0.0443	L	0.56769	1.78	0.23994	N	0.996239	B	0.06786	0.001	B	0.06405	0.002	T	0.10870	-1.0611	10	0.34782	T	0.22	.	6.598	0.22685	0.0783:0.5398:0.2351:0.1468	.	159	Q16799	RTN1_HUMAN	L	159;85	ENSP00000267484:R159L	ENSP00000267484:R159L	R	-	2	0	RTN1	59282718	0.000000	0.05858	0.075000	0.20258	0.235000	0.25334	-2.427000	0.01026	-2.539000	0.00486	-1.031000	0.02408	CGT	RTN1	-	NULL		0.507	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2	C			60212965	-1	no_errors	ENST00000267484	ensembl	human	known	70_37	missense	SNP	0.018	A
SBSN	374897	genome.wustl.edu	37	19	36018715	36018715	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr19:36018715C>T	ENST00000452271.2	-	1	497	c.469G>A	c.(469-471)Gac>Aac	p.D157N	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	157	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCAGCATTGTCGACTCCCTGG	0.612																																																	0													123.0	117.0	119.0					19																	36018715		692	1591	2283	SO:0001583	missense	374897			AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.469G>A	19.37:g.36018715C>T	ENSP00000430242:p.Asp157Asn		A8K5J0|E9PBV3	Missense_Mutation	SNP	NULL	p.D157N	ENST00000452271.2	37	c.469	CCDS54253.1	19	.	.	.	.	.	.	.	.	.	.	C	1.639	-0.516962	0.04171	.	.	ENSG00000189001	ENST00000452271	T	0.39997	1.05	4.57	2.32	0.28847	.	.	.	.	.	T	0.13500	0.0327	N	0.01352	-0.895	0.20074	N	0.999936	B	0.14438	0.01	B	0.01281	0.0	T	0.29397	-1.0013	9	0.13108	T	0.6	.	5.9937	0.19480	0.0:0.1736:0.5493:0.2771	.	157	E9PBV3	.	N	157	ENSP00000430242:D157N	ENSP00000430242:D157N	D	-	1	0	SBSN	40710555	0.001000	0.12720	0.519000	0.27824	0.004000	0.04260	-0.100000	0.10990	0.893000	0.36288	-0.228000	0.12330	GAC	SBSN	-	NULL		0.612	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SBSN	HGNC	protein_coding	OTTHUMT00000109463.3	C	NM_198538		36018715	-1	no_errors	ENST00000452271	ensembl	human	novel	70_37	missense	SNP	0.200	T
SDK2	54549	genome.wustl.edu	37	17	71380101	71380101	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr17:71380101C>T	ENST00000392650.3	-	33	4619	c.4619G>A	c.(4618-4620)cGa>cAa	p.R1540Q	SDK2_ENST00000388726.3_Missense_Mutation_p.R1540Q	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1540	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTCCCGGTATCGGATCCGGAA	0.612																																																	0													97.0	81.0	87.0					17																	71380101		2203	4300	6503	SO:0001583	missense	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4619G>A	17.37:g.71380101C>T	ENSP00000376421:p.Arg1540Gln		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R1540Q	ENST00000392650.3	37	c.4619	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596502	0.66332	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.56444	0.46;0.46;0.46	5.59	5.59	0.84812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.064020	0.64402	D	0.000004	T	0.44685	0.1305	L	0.43646	1.37	0.54753	D	0.999984	B;B;B	0.27951	0.195;0.02;0.034	B;B;B	0.20384	0.028;0.029;0.028	T	0.37798	-0.9690	10	0.10636	T	0.68	.	19.2002	0.93708	0.0:1.0:0.0:0.0	.	1540;1540;1540	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	Q	1164;1540;1540;716;1540	ENSP00000376421:R1540Q;ENSP00000373378:R1540Q;ENSP00000407098:R716Q	ENSP00000324967:R1540Q	R	-	2	0	SDK2	68891696	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	2.628000	0.46477	2.630000	0.89119	0.651000	0.88453	CGA	SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.612	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	C	NM_019064		71380101	-1	no_errors	ENST00000392650	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC44A1	23446	genome.wustl.edu	37	9	108110672	108110672	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr9:108110672C>T	ENST00000374720.3	+	5	687	c.440C>T	c.(439-441)tCt>tTt	p.S147F	SLC44A1_ENST00000374724.1_Missense_Mutation_p.S147F|SLC44A1_ENST00000374723.1_Missense_Mutation_p.S147F	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	147					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	CTAAAGCCTTCTGAATACACT	0.363																																																	0													122.0	120.0	121.0					9																	108110672		2203	4300	6503	SO:0001583	missense	23446			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.440C>T	9.37:g.108110672C>T	ENSP00000363852:p.Ser147Phe		A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.S147F	ENST00000374720.3	37	c.440	CCDS6763.1	9	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486664	0.44249	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724	T;T;T	0.80909	-1.43;-1.43;-1.43	5.46	5.46	0.80206	.	0.234004	0.44902	D	0.000419	T	0.75384	0.3842	L	0.37800	1.135	0.80722	D	1	B;B	0.22480	0.0;0.07	B;B	0.20767	0.003;0.031	T	0.69917	-0.5015	10	0.39692	T	0.17	0.5343	19.2931	0.94110	0.0:1.0:0.0:0.0	.	147;147	Q8WWI5-3;Q8WWI5	.;CTL1_HUMAN	F	147	ENSP00000363855:S147F;ENSP00000363852:S147F;ENSP00000363856:S147F	ENSP00000363852:S147F	S	+	2	0	SLC44A1	107150493	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.911000	0.48774	2.554000	0.86153	0.655000	0.94253	TCT	SLC44A1	-	NULL		0.363	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC44A1	HGNC	protein_coding	OTTHUMT00000053500.1	C	NM_080546		108110672	+1	no_errors	ENST00000374720	ensembl	human	known	70_37	missense	SNP	0.994	T
SNAP91	9892	genome.wustl.edu	37	6	84290271	84290271	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr6:84290271C>T	ENST00000439399.2	-	24	2513	c.2197G>A	c.(2197-2199)Ggg>Agg	p.G733R	SNAP91_ENST00000195649.6_Missense_Mutation_p.G728R|SNAP91_ENST00000369694.2_Missense_Mutation_p.G733R|SNAP91_ENST00000520213.1_Missense_Mutation_p.G426R|SNAP91_ENST00000521743.1_Missense_Mutation_p.G733R|SNAP91_ENST00000519133.1_5'Flank|SNAP91_ENST00000520302.1_Missense_Mutation_p.G703R|SNAP91_ENST00000521485.1_Missense_Mutation_p.G728R|SNAP91_ENST00000437520.1_Missense_Mutation_p.G426R|SNAP91_ENST00000428679.2_Missense_Mutation_p.G733R	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	733					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCAGGCTGCCCAGCTGGTGCC	0.453																																																	0													89.0	92.0	91.0					6																	84290271		1979	4152	6131	SO:0001583	missense	9892			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2197G>A	6.37:g.84290271C>T	ENSP00000400459:p.Gly733Arg		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.G733R	ENST00000439399.2	37	c.2197	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175351	0.78564	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448;ENST00000521931	T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.52	5.52	0.82312	.	0.253177	0.41396	D	0.000893	T	0.38295	0.1035	L	0.50333	1.59	0.24308	N	0.99509	D;D;D;D;D	0.89917	0.964;1.0;1.0;1.0;0.999	P;D;D;D;D	0.79108	0.706;0.992;0.988;0.988;0.958	T	0.22312	-1.0220	10	0.72032	D	0.01	-6.1785	14.2987	0.66331	0.1486:0.8514:0.0:0.0	.	609;426;703;733;731	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	R	728;733;733;728;733;426;703;733;426;74;546	ENSP00000429776:G728R;ENSP00000358708:G733R;ENSP00000400459:G733R;ENSP00000195649:G728R;ENSP00000412492:G733R;ENSP00000413277:G426R;ENSP00000428511:G703R;ENSP00000428215:G733R;ENSP00000428026:G426R;ENSP00000430255:G74R;ENSP00000430071:G546R	ENSP00000195649:G728R	G	-	1	0	SNAP91	84346990	0.997000	0.39634	0.954000	0.39281	0.997000	0.91878	3.928000	0.56506	2.589000	0.87451	0.655000	0.94253	GGG	SNAP91	-	NULL		0.453	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	C			84290271	-1	no_errors	ENST00000369694	ensembl	human	known	70_37	missense	SNP	0.985	T
SPA17	53340	genome.wustl.edu	37	11	124551329	124551329	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr11:124551329C>T	ENST00000532692.1	+	2	1620	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	SIAE_ENST00000525730.1_Intron|SPA17_ENST00000524614.1_3'UTR|SPA17_ENST00000227135.2_Missense_Mutation_p.R67C			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	67					binding of sperm to zona pellucida (GO:0007339)|epithelial cilium movement (GO:0003351)|single fertilization (GO:0007338)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|primary cilium (GO:0072372)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		GGTAGAAGACCGCTTCTATAA	0.358																																																	0													117.0	112.0	114.0					11																	124551329		2201	4299	6500	SO:0001583	missense	53340			AF334735	CCDS8450.1	11q24.2	2009-03-12			ENSG00000064199	ENSG00000064199			11210	protein-coding gene	gene with protein product	"""cancer/testis antigen 22"""	608621				8688458	Standard	NM_017425		Approved	SP17, CT22	uc001qap.3	Q15506	OTTHUMG00000165927	ENST00000532692.1:c.199C>T	11.37:g.124551329C>T	ENSP00000432305:p.Arg67Cys		B2R4F2|Q9BXF7	Missense_Mutation	SNP	pfam_cAMP_dep_PK_reg_su_I/II_a/b,pfam_IQ_motif_EF-hand-BS,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_IQ_motif_EF-hand-BS,pirsf_Sp17,pfscan_IQ_motif_EF-hand-BS	p.R67C	ENST00000532692.1	37	c.199	CCDS8450.1	11	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083682	0.76642	.	.	ENSG00000064199	ENST00000227135;ENST00000532692	.	.	.	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000001	T	0.76644	0.4016	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76599	-0.2900	9	0.49607	T	0.09	-2.9718	12.3405	0.55091	0.2696:0.7304:0.0:0.0	.	67	Q15506	SP17_HUMAN	C	67	.	ENSP00000227135:R67C	R	+	1	0	SPA17	124056539	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	2.867000	0.48428	2.752000	0.94435	0.557000	0.71058	CGC	SPA17	-	pirsf_Sp17		0.358	SPA17-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	SPA17	HGNC	protein_coding	OTTHUMT00000387075.1	C	NM_017425		124551329	+1	no_errors	ENST00000227135	ensembl	human	putative	70_37	missense	SNP	1.000	T
SSBP3	23648	genome.wustl.edu	37	1	54871665	54871665	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr1:54871665T>C	ENST00000371320.3	-	1	427	c.17A>G	c.(16-18)aAa>aGa	p.K6R	SSBP3_ENST00000357475.4_Missense_Mutation_p.K6R|SSBP3_ENST00000371319.3_Missense_Mutation_p.K6R|SSBP3_ENST00000417664.2_5'Flank	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	6					head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						CGCCGAGCCTTTGCCTTTGGC	0.736																																																	0													4.0	5.0	5.0					1																	54871665		2079	4010	6089	SO:0001583	missense	23648				CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"""single-stranded DNA-binding protein 3"""			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.17A>G	1.37:g.54871665T>C	ENSP00000360371:p.Lys6Arg		A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd	p.K6R	ENST00000371320.3	37	c.17	CCDS591.1	1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.645914	0.47258	.	.	ENSG00000157216	ENST00000371320;ENST00000371319;ENST00000357475	.	.	.	2.64	2.64	0.31445	.	0.000000	0.46758	U	0.000271	T	0.45155	0.1328	L	0.38838	1.175	0.35702	D	0.815734	B;B;B	0.18968	0.02;0.004;0.032	B;B;B	0.24006	0.018;0.012;0.05	T	0.52540	-0.8562	9	0.62326	D	0.03	.	8.2855	0.31926	0.0:0.0:0.0:1.0	.	6;6;6	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	R	6	.	ENSP00000350067:K6R	K	-	2	0	SSBP3	54644253	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.586000	0.53950	0.978000	0.38470	0.240000	0.17902	AAA	SSBP3	-	NULL		0.736	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SSBP3	HGNC	protein_coding	OTTHUMT00000022721.1	T	NM_018070		54871665	-1	no_errors	ENST00000371320	ensembl	human	known	70_37	missense	SNP	1.000	C
SYT6	148281	genome.wustl.edu	37	1	114640467	114640467	+	Missense_Mutation	SNP	C	C	T	rs148168972		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr1:114640467C>T	ENST00000610222.1	-	6	1543	c.1397G>A	c.(1396-1398)cGt>cAt	p.R466H	SYT6_ENST00000393296.1_Missense_Mutation_p.R466H|SYT6_ENST00000607941.1_Missense_Mutation_p.R381H|SYT6_ENST00000609117.1_Missense_Mutation_p.R381H|SYT6_ENST00000369547.1_Missense_Mutation_p.R381H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	466	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCCCCACACGACAGACTCC	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19786	0.0		0.0	False		,,,				2504	0.0																0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	100.0	91.0	94.0		1142	5.4	0.9	1	dbSNP_134	94	0,8600		0,0,4300	no	missense	SYT6	NM_205848.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	381/426	114640467	1,13005	2203	4300	6503	SO:0001583	missense	148281				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1397G>A	1.37:g.114640467C>T	ENSP00000476396:p.Arg466His		B1AMB8|B3KPK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.R466H	ENST00000610222.1	37	c.1397		1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573939	0.65765	2.27E-4	0.0	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.37	5.37	0.77165	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.60907	0.2305	L	0.45581	1.43	0.80722	D	1	D;P	0.55385	0.971;0.758	P;B	0.48425	0.577;0.104	T	0.58578	-0.7612	10	0.14656	T	0.56	.	19.1126	0.93323	0.0:1.0:0.0:0.0	.	466;381	Q5T7P8;Q5T7P8-2	SYT6_HUMAN;.	H	381;466;381;466	ENSP00000358560:R381H;ENSP00000376974:R466H;ENSP00000358559:R381H;ENSP00000358558:R466H	ENSP00000358558:R466H	R	-	2	0	SYT6	114441990	1.000000	0.71417	0.916000	0.36221	0.782000	0.44232	7.780000	0.85658	2.512000	0.84698	0.462000	0.41574	CGT	SYT6	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.577	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SYT6	HGNC	protein_coding	OTTHUMT00000314819.2	C	NM_205848		114640467	-1	no_errors	ENST00000369545	ensembl	human	known	70_37	missense	SNP	0.998	T
TGFB2	7042	genome.wustl.edu	37	1	218520199	218520200	+	Frame_Shift_Ins	INS	-	-	C			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr1:218520199_218520200insC	ENST00000366930.4	+	1	623_624	c.156_157insC	c.(157-159)cccfs	p.P53fs	RP11-224O19.2_ENST00000414452.1_RNA|TGFB2_ENST00000366929.4_Frame_Shift_Ins_p.P53fs	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	53					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AGCTCACCAGTCCCCCAGAAGA	0.599																																																	0																																										SO:0001589	frameshift_variant	7042			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.161dupC	1.37:g.218520204_218520204dupC	ENSP00000355897:p.Pro53fs		B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Frame_Shift_Ins	INS	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_TGFb2,prints_TGF-beta	p.E54fs	ENST00000366930.4	37	c.156_157	CCDS1521.1	1																																																																																			TGFB2	-	pfam_TGF-b_N,pirsf_TGF-beta,prints_TGFb2		0.599	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFB2	HGNC	protein_coding	OTTHUMT00000095359.2	-	NM_003238		218520200	+1	no_errors	ENST00000366929	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	C
TRIM63	84676	genome.wustl.edu	37	1	26394009	26394009	+	De_novo_Start_InFrame	SNP	C	C	T	rs368553195		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr1:26394009C>T	ENST00000374272.3	-	0	115				TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase						cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ATGAGAGCCACGCCTAGCTGC	0.522																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	63.0	58.0	60.0			0.2	0.0	1		60	0,8600		0,0,4300	no	utr-5	TRIM63	NM_032588.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077			26394009	1,13005	2203	4300	6503			84676			AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	16007	protein-coding gene	gene with protein product	"""muscle-specific RING finger protein 1"", ""iris ring finger protein"", ""striated muscle RING zinc finger protein"""	606131	"""ring finger protein 28"", ""tripartite motif-containing 63"", ""tripartite motif containing 63"""	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510		1.37:g.26394009C>T			B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	RNA	SNP	-	NULL	ENST00000374272.3	37	NULL	CCDS273.1	1																																																																																			TRIM63	-	-		0.522	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM63	HGNC	protein_coding	OTTHUMT00000019750.1	C	NM_032588		26394009	-1	no_errors	ENST00000483052	ensembl	human	known	70_37	rna	SNP	0.000	T
TRPC3	7222	genome.wustl.edu	37	4	122872779	122872779	+	Silent	SNP	C	C	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr4:122872779C>T	ENST00000379645.3	-	1	130	c.57G>A	c.(55-57)ccG>ccA	p.P19P		NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	0					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCTCCTCCTCCGGCGCCGGGA	0.741																																																	0													7.0	9.0	8.0					4																	122872779		689	1579	2268	SO:0001819	synonymous_variant	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.57G>A	4.37:g.122872779C>T			A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.P19	ENST00000379645.3	37	c.57	CCDS47130.1	4																																																																																			TRPC3	-	NULL		0.741	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	C	NM_003305		122872779	-1	no_errors	ENST00000379645	ensembl	human	known	70_37	silent	SNP	0.981	T
UBE3A	7337	genome.wustl.edu	37	15	25615855	25615855	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr15:25615855C>A	ENST00000397954.2	-	4	1474	c.1475G>T	c.(1474-1476)gGa>gTa	p.G492V	UBE3A_ENST00000428984.2_Missense_Mutation_p.G469V|UBE3A_ENST00000438097.1_Missense_Mutation_p.G469V|UBE3A_ENST00000232165.3_Missense_Mutation_p.G489V|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.G469V			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	492	Interaction with HCV core protein.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		ATAATATAATCCCAAATTCTT	0.328																																																	0													60.0	58.0	59.0					15																	25615855		2203	4300	6503	SO:0001583	missense	7337			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1475G>T	15.37:g.25615855C>A	ENSP00000381045:p.Gly492Val		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT	p.G492V	ENST00000397954.2	37	c.1475	CCDS45192.1	15	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717914	0.68844	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.82300	0.5007	L	0.52126	1.63	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.70227	0.968;0.96	T	0.78476	-0.2189	10	0.23891	T	0.37	.	18.8536	0.92242	0.0:1.0:0.0:0.0	.	489;492	Q05086-3;Q05086	.;UBE3A_HUMAN	V	489;489;492;469;469	ENSP00000232165:G489V;ENSP00000381045:G492V;ENSP00000411258:G469V;ENSP00000401265:G469V	ENSP00000232165:G489V	G	-	2	0	UBE3A	23166948	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.468000	0.83385	0.467000	0.42956	GGA	UBE3A	-	pirsf_Ubiquitin-protein_ligase_E6-AP		0.328	UBE3A-003	KNOWN	basic|CCDS	protein_coding	UBE3A	HGNC	protein_coding	OTTHUMT00000434203.1	C	NM_000462		25615855	-1	no_errors	ENST00000397954	ensembl	human	known	70_37	missense	SNP	1.000	A
USP31	57478	genome.wustl.edu	37	16	23080124	23080124	+	Missense_Mutation	SNP	G	G	T	rs566732624		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr16:23080124G>T	ENST00000219689.7	-	16	3301	c.3302C>A	c.(3301-3303)cCg>cAg	p.P1101Q	USP31_ENST00000567975.1_Missense_Mutation_p.P394Q	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTGAGATTTCGGGGATGACTC	0.582																																																	0													82.0	91.0	88.0					16																	23080124		2197	4300	6497	SO:0001583	missense	57478			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3302C>A	16.37:g.23080124G>T	ENSP00000219689:p.Pro1101Gln		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.P1101Q	ENST00000219689.7	37	c.3302	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455544	0.26161	.	.	ENSG00000103404	ENST00000219689	T	0.08634	3.07	6.06	6.06	0.98353	.	1.684290	0.03323	N	0.192261	T	0.15132	0.0365	N	0.19112	0.55	0.23174	N	0.998175	P;D	0.55385	0.911;0.971	P;P	0.55999	0.541;0.789	T	0.42982	-0.9419	10	0.11485	T	0.65	-9.7609	15.1309	0.72523	0.0:0.1406:0.8594:0.0	.	1101;394	Q70CQ4;B3KS48	UBP31_HUMAN;.	Q	1101	ENSP00000219689:P1101Q	ENSP00000219689:P1101Q	P	-	2	0	USP31	22987625	0.979000	0.34478	0.113000	0.21522	0.760000	0.43138	3.604000	0.54081	2.879000	0.98667	0.650000	0.86243	CCG	USP31	-	NULL		0.582	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	G	NM_020718		23080124	-1	no_errors	ENST00000219689	ensembl	human	known	70_37	missense	SNP	0.270	T
YWHAE	7531	genome.wustl.edu	37	17	1264468	1264468	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr17:1264468T>C	ENST00000264335.8	-	4	763	c.496A>G	c.(496-498)Acg>Gcg	p.T166A	YWHAE_ENST00000571732.1_Missense_Mutation_p.T144A|YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	166					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		ATAGGATGCGTTGGTGGAAGT	0.468			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																																	Dom	yes		17	17p13.3	7531	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes	M	0													135.0	126.0	129.0					17																	1264468		2203	4300	6503	SO:0001583	missense	7531			U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.496A>G	17.37:g.1264468T>C	ENSP00000264335:p.Thr166Ala		B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.T166A	ENST00000264335.8	37	c.496	CCDS11001.1	17	.	.	.	.	.	.	.	.	.	.	T	19.01	3.744622	0.69418	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.49139	0.79	5.39	5.39	0.77823	14-3-3 domain (4);	0.000000	0.85682	U	0.000000	T	0.58032	0.2094	M	0.90814	3.15	0.80722	D	1	B	0.12013	0.005	B	0.21546	0.035	T	0.62158	-0.6913	10	0.66056	D	0.02	-12.444	13.4443	0.61131	0.0:0.0:0.0:1.0	.	166	P62258	1433E_HUMAN	A	166;144	ENSP00000264335:T166A	ENSP00000264335:T166A	T	-	1	0	YWHAE	1211218	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.992000	0.88273	2.057000	0.61298	0.529000	0.55759	ACG	YWHAE	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3		0.468	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAE	HGNC	protein_coding	OTTHUMT00000259354.3	T	NM_006761		1264468	-1	no_errors	ENST00000264335	ensembl	human	known	70_37	missense	SNP	1.000	C
ZBTB16	7704	genome.wustl.edu	37	11	113934923	113934923	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr11:113934923G>A	ENST00000335953.4	+	2	1281	c.901G>A	c.(901-903)Gag>Aag	p.E301K	ZBTB16_ENST00000392996.2_Missense_Mutation_p.E301K	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	301					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGGGCGAGAGGAGAGTGCCGA	0.647																																																	0													53.0	45.0	48.0					11																	113934923		2201	4296	6497	SO:0001583	missense	7704			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.901G>A	11.37:g.113934923G>A	ENSP00000338157:p.Glu301Lys		Q8TAL4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E301K	ENST00000335953.4	37	c.901	CCDS8367.1	11	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982205	0.74474	.	.	ENSG00000109906	ENST00000335953;ENST00000392996	T;T	0.10573	2.86;2.86	5.11	5.11	0.69529	.	0.108901	0.64402	D	0.000007	T	0.10252	0.0251	N	0.24115	0.695	0.80722	D	1	B;B	0.33694	0.281;0.421	B;B	0.32980	0.037;0.156	T	0.16012	-1.0417	10	0.51188	T	0.08	-16.7646	18.7138	0.91668	0.0:0.0:1.0:0.0	.	301;306	Q05516;Q59H43	ZBT16_HUMAN;.	K	301	ENSP00000338157:E301K;ENSP00000376721:E301K	ENSP00000338157:E301K	E	+	1	0	ZBTB16	113440133	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.563000	0.98148	2.651000	0.90000	0.655000	0.94253	GAG	ZBTB16	-	NULL		0.647	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB16	HGNC	protein_coding	OTTHUMT00000398940.1	G	NM_006006		113934923	+1	no_errors	ENST00000335953	ensembl	human	known	70_37	missense	SNP	1.000	A
ZCWPW1	55063	genome.wustl.edu	37	7	100014776	100014776	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr7:100014776G>A	ENST00000398027.2	-	6	639	c.392C>T	c.(391-393)aCt>aTt	p.T131I	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.T10I|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.T131I|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.T10I	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	131							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCACAAGAAGTCTCTGCAAA	0.413																																																	0													119.0	109.0	112.0					7																	100014776		1876	4102	5978	SO:0001583	missense	55063			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.392C>T	7.37:g.100014776G>A	ENSP00000381109:p.Thr131Ile		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW	p.T131I	ENST00000398027.2	37	c.392	CCDS43623.1	7	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419618	0.62622	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000379559	T;T;T;T	0.52295	0.68;0.72;0.67;0.72	4.48	2.63	0.31362	.	0.451947	0.16408	N	0.215729	T	0.51635	0.1686	L	0.52573	1.65	0.22701	N	0.998834	D;D;D;D;D	0.63880	0.993;0.981;0.981;0.981;0.989	P;P;P;P;P	0.58266	0.796;0.69;0.69;0.69;0.836	T	0.34304	-0.9834	9	.	.	.	-3.8295	5.5027	0.16836	0.103:0.0:0.7009:0.1961	.	131;91;132;131;10	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	I	131;10;131;10;132	ENSP00000381109:T131I;ENSP00000419187:T10I;ENSP00000354210:T131I;ENSP00000314880:T10I	.	T	-	2	0	ZCWPW1	99852712	0.998000	0.40836	0.608000	0.28969	0.944000	0.59088	0.816000	0.27267	0.601000	0.29879	0.643000	0.83706	ACT	ZCWPW1	-	NULL		0.413	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	G	NM_017984		100014776	-1	no_errors	ENST00000398027	ensembl	human	known	70_37	missense	SNP	0.750	A
ZDHHC12	84885	genome.wustl.edu	37	9	131483965	131483965	+	Silent	SNP	C	C	T			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr9:131483965C>T	ENST00000372663.4	-	4	459	c.447G>A	c.(445-447)caG>caA	p.Q149Q	ZDHHC12_ENST00000467312.1_5'UTR|RP11-545E17.3_ENST00000443631.1_RNA|ZDHHC12_ENST00000372667.5_Silent_p.Q163Q|ZDHHC12_ENST00000372672.2_Silent_p.Q149Q	NM_032799.4	NP_116188	Q96GR4	ZDH12_HUMAN	zinc finger, DHHC-type containing 12	149					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						GCACCACCAGCTGCAGCGCCA	0.652																																																	0													158.0	144.0	149.0					9																	131483965		2203	4300	6503	SO:0001819	synonymous_variant	84885			AK027430	CCDS6909.1	9q34.11	2008-02-05			ENSG00000160446	ENSG00000160446		"""Zinc fingers, DHHC-type"""	19159	protein-coding gene	gene with protein product							Standard	NM_032799		Approved	ZNF400, FLJ14524	uc004bvy.3	Q96GR4	OTTHUMG00000020756	ENST00000372663.4:c.447G>A	9.37:g.131483965C>T			A6NH95|B2RE03|Q5T265|Q5T267|Q5T268|Q86VT5|Q96T09	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.Q163	ENST00000372663.4	37	c.489	CCDS6909.1	9																																																																																			ZDHHC12	-	pfam_Znf_DHHC_palmitoyltrfase		0.652	ZDHHC12-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC12	HGNC	protein_coding	OTTHUMT00000054484.1	C	NM_032799		131483965	-1	no_errors	ENST00000372667	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF23	7571	genome.wustl.edu	37	16	71483020	71483020	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr16:71483020G>A	ENST00000393539.2	-	6	1721	c.908C>T	c.(907-909)aCt>aTt	p.T303I	ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.T245I|ZNF23_ENST00000417828.1_Missense_Mutation_p.T303I|ZNF23_ENST00000428724.2_Missense_Mutation_p.T245I|ZNF23_ENST00000357254.4_Missense_Mutation_p.T303I|AC010547.9_ENST00000561908.1_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TTTCTCTCCAGTGTGGACTCT	0.413																																																	0													76.0	75.0	76.0					16																	71483020		2198	4300	6498	SO:0001583	missense	7571			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.908C>T	16.37:g.71483020G>A	ENSP00000377171:p.Thr303Ile		Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T303I	ENST00000393539.2	37	c.908	CCDS10900.1	16	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908467	0.72868	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742;ENST00000358700	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.15	4.15	0.48705	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000343	T	0.47414	0.1444	M	0.62088	1.915	0.49798	D	0.999828	D;D	0.76494	0.999;0.998	D;P	0.78314	0.991;0.9	T	0.48592	-0.9022	10	0.87932	D	0	-23.6368	14.7472	0.69496	0.0:0.0:1.0:0.0	.	303;303	B3KR55;P17027	.;ZNF23_HUMAN	I	303;303;303;245;245;103	ENSP00000377171:T303I;ENSP00000349796:T303I;ENSP00000395712:T303I;ENSP00000387673:T245I	ENSP00000349796:T303I	T	-	2	0	ZNF23	70040521	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.513000	0.60476	2.599000	0.87857	0.561000	0.74099	ACT	ZNF23	-	pfscan_Znf_C2H2		0.413	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF23	HGNC	protein_coding	OTTHUMT00000268985.23	G	NM_145911		71483020	-1	no_errors	ENST00000357254	ensembl	human	known	70_37	missense	SNP	1.000	A
