#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ABCC5	10057	genome.wustl.edu	37	3	183669264	183669264	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr3:183669264C>A	ENST00000334444.6	-	20	3149	c.2909G>T	c.(2908-2910)aGg>aTg	p.R970M	ABCC5_ENST00000265586.6_Missense_Mutation_p.R970M	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	970	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GTTGAGAATCCTCCCTGTGGG	0.498																																																	0													74.0	75.0	75.0					3																	183669264		1891	4132	6023	SO:0001583	missense	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2909G>T	3.37:g.183669264C>A	ENSP00000333926:p.Arg970Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.R970M	ENST00000334444.6	37	c.2909	CCDS43176.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.207854	0.95033	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.95171	-3.63;-3.63	6.11	6.11	0.99139	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98346	0.9451	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98545	1.0634	10	0.87932	D	0	-25.2668	20.7342	0.99715	0.0:1.0:0.0:0.0	.	970;970	Q86UX3;O15440	.;MRP5_HUMAN	M	970	ENSP00000333926:R970M;ENSP00000265586:R970M	ENSP00000265586:R970M	R	-	2	0	ABCC5	185151958	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.609000	0.82925	2.906000	0.99361	0.655000	0.94253	AGG	ABCC5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.498	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1	C	NM_005688		183669264	-1	no_errors	ENST00000334444	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAMTS18	170692	genome.wustl.edu	37	16	77331190	77331190	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr16:77331190C>A	ENST00000282849.5	-	18	3215	c.2797G>T	c.(2797-2799)Gct>Tct	p.A933S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	933	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACTTACTAAGCCGGGCAGGAG	0.398																																																	0													170.0	164.0	166.0					16																	77331190		2198	4300	6498	SO:0001583	missense	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2797G>T	16.37:g.77331190C>A	ENSP00000282849:p.Ala933Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.A933S	ENST00000282849.5	37	c.2797	CCDS10926.1	16	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998230	0.74818	.	.	ENSG00000140873	ENST00000282849	T	0.58797	0.31	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.60907	0.2305	L	0.52759	1.655	0.80722	D	1	P;B	0.45044	0.849;0.124	P;B	0.45794	0.493;0.027	T	0.56854	-0.7910	10	0.37606	T	0.19	.	19.609	0.95594	0.0:1.0:0.0:0.0	.	933;933	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	S	933	ENSP00000282849:A933S	ENSP00000282849:A933S	A	-	1	0	ADAMTS18	75888691	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.292000	0.65673	2.882000	0.98803	0.655000	0.94253	GCT	ADAMTS18	-	superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.398	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	HGNC	protein_coding	OTTHUMT00000269037.1	C			77331190	-1	no_errors	ENST00000282849	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAMTS2	9509	genome.wustl.edu	37	5	178559250	178559250	+	Silent	SNP	G	G	A	rs137875904	byFrequency	TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr5:178559250G>A	ENST00000251582.7	-	15	2372	c.2271C>T	c.(2269-2271)gaC>gaT	p.D757D		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	757	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGCTGGTGGCGTCTACCTCCT	0.542																																																	0								G		5,4401	9.9+/-24.2	0,5,2198	114.0	105.0	108.0		2271	2.1	0.0	5	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	ADAMTS2	NM_014244.4		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		757/1212	178559250	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2271C>T	5.37:g.178559250G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.D757	ENST00000251582.7	37	c.2271	CCDS4444.1	5																																																																																			ADAMTS2	-	pfam_ADAM_spacer1		0.542	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	G	NM_014244		178559250	-1	no_errors	ENST00000251582	ensembl	human	known	70_37	silent	SNP	0.377	A
AFAP1	60312	genome.wustl.edu	37	4	7873707	7873707	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr4:7873707G>T	ENST00000360265.4	-	1	333	c.99C>A	c.(97-99)aaC>aaA	p.N33K	AFAP1_ENST00000420658.1_Missense_Mutation_p.N33K|AFAP1_ENST00000358461.2_Missense_Mutation_p.N33K|AFAP1_ENST00000382543.3_Missense_Mutation_p.N33K			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	33						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TTAGCAGAATGTTGGTTATCA	0.398																																																	0													291.0	256.0	268.0					4																	7873707		2203	4300	6503	SO:0001583	missense	60312			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.99C>A	4.37:g.7873707G>T	ENSP00000353402:p.Asn33Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.N33K	ENST00000360265.4	37	c.99	CCDS3397.1	4	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942728	0.53079	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.38	3.62	0.41486	.	0.050427	0.85682	D	0.000000	T	0.32071	0.0817	L	0.46157	1.445	0.42916	D	0.994274	P;B	0.37688	0.605;0.321	B;B	0.29176	0.099;0.073	T	0.37957	-0.9683	10	0.62326	D	0.03	-52.8524	12.1288	0.53932	0.1257:0.0:0.8743:0.0	.	33;33	E9PDT7;Q8N556	.;AFAP1_HUMAN	K	33	ENSP00000353402:N33K;ENSP00000410689:N33K;ENSP00000351245:N33K;ENSP00000371983:N33K	ENSP00000351245:N33K	N	-	3	2	AFAP1	7924607	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.580000	0.46068	2.532000	0.85374	0.650000	0.86243	AAC	AFAP1	-	NULL		0.398	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1	HGNC	protein_coding	OTTHUMT00000246842.2	G	NM_021638		7873707	-1	no_errors	ENST00000420658	ensembl	human	known	70_37	missense	SNP	1.000	T
ATAD2	29028	genome.wustl.edu	37	8	124382158	124382159	+	In_Frame_Ins	INS	-	-	TCA	rs373904648|rs374184884|rs145137934|rs112640031|rs371096883|rs373069275|rs113064839	byFrequency	TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr8:124382158_124382159insTCA	ENST00000287394.5	-	7	940_941	c.833_834insTGA	c.(832-834)gaa>gaTGAa	p.277_278insD	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_De_novo_Start_InFrame	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	277	Asp-rich.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			cttcatcatcttcatcatcatc	0.376																																																	0																																										SO:0001652	inframe_insertion	29028			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.831_833dupTGA	8.37:g.124382165_124382167dupTCA	ENSP00000287394:p.Asp279_Asp280dup	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	In_Frame_Ins	INS	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.278in_frame_insD	ENST00000287394.5	37	c.834_833	CCDS6343.1	8																																																																																			ATAD2	-	NULL		0.376	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2	-	NM_014109		124382159	-1	no_errors	ENST00000287394	ensembl	human	known	70_37	in_frame_ins	INS	0.866:0.899	TCA
ATP8A1	10396	genome.wustl.edu	37	4	42554617	42554617	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr4:42554617G>T	ENST00000381668.5	-	17	1655	c.1424C>A	c.(1423-1425)cCt>cAt	p.P475H	ATP8A1_ENST00000264449.10_Missense_Mutation_p.P460H	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	475					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ACATATTATAGGTGCAGTTGG	0.373																																																	0													106.0	97.0	100.0					4																	42554617		2203	4300	6503	SO:0001583	missense	10396			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1424C>A	4.37:g.42554617G>T	ENSP00000371084:p.Pro475His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.P475H	ENST00000381668.5	37	c.1424	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874319	0.91664	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.69806	-0.43;-0.43	5.9	5.9	0.94986	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.123056	0.53938	D	0.000044	T	0.78451	0.4285	L	0.49256	1.55	0.80722	D	1	D;P;P	0.63046	0.992;0.909;0.86	P;D;P	0.64687	0.667;0.928;0.726	T	0.77278	-0.2647	10	0.54805	T	0.06	.	20.2787	0.98501	0.0:0.0:1.0:0.0	.	460;460;475	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	H	475;460	ENSP00000371084:P475H;ENSP00000264449:P460H	ENSP00000264449:P460H	P	-	2	0	ATP8A1	42249374	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	5.708000	0.68377	2.798000	0.96311	0.650000	0.86243	CCT	ATP8A1	-	superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl		0.373	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2	G	NM_006095		42554617	-1	no_errors	ENST00000381668	ensembl	human	known	70_37	missense	SNP	1.000	T
B3GALT5	10317	genome.wustl.edu	37	21	41032526	41032526	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr21:41032526C>A	ENST00000380620.4	+	5	632	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	B3GALT5_ENST00000343118.4_Missense_Mutation_p.L14M|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000398714.2_Missense_Mutation_p.L14M|B3GALT5_ENST00000380618.1_Missense_Mutation_p.L14M			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	14					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TATTTGCCTTCTGGTTCTGGG	0.383																																																	0													174.0	171.0	172.0					21																	41032526		2203	4300	6503	SO:0001583	missense	10317			AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.40C>A	21.37:g.41032526C>A	ENSP00000369994:p.Leu14Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.L14M	ENST00000380620.4	37	c.40	CCDS13667.1	21	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609427	0.28623	.	.	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.75	-0.981	0.10269	.	0.585786	0.16078	N	0.230648	T	0.48223	0.1488	L	0.47716	1.5	0.09310	N	1	B	0.26195	0.144	B	0.15870	0.014	T	0.37865	-0.9687	10	0.51188	T	0.08	.	1.1995	0.01882	0.4102:0.1691:0.252:0.1687	.	14	Q9Y2C3	B3GT5_HUMAN	M	14	ENSP00000369994:L14M;ENSP00000369992:L14M;ENSP00000343318:L14M;ENSP00000381699:L14M	ENSP00000343318:L14M	L	+	1	2	B3GALT5	39954396	0.001000	0.12720	0.000000	0.03702	0.021000	0.10359	-0.149000	0.10204	0.082000	0.17018	0.655000	0.94253	CTG	B3GALT5	-	NULL		0.383	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT5	HGNC	protein_coding	OTTHUMT00000195008.2	C	NM_033170		41032526	+1	no_errors	ENST00000343118	ensembl	human	known	70_37	missense	SNP	0.000	A
BCR	613	genome.wustl.edu	37	22	23658000	23658000	+	3'UTR	SNP	G	G	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr22:23658000G>A	ENST00000305877.8	+	0	4858				BCR_ENST00000436990.2_3'UTR|BCR_ENST00000359540.3_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region						actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	ACAGGGTGAAGGGAGTGGTTT	0.532			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0																																										SO:0001624	3_prime_UTR_variant	613				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.*291G>A	22.37:g.23658000G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	P78501|Q12842|Q4LE80|Q6NZI3	RNA	SNP	-	NULL	ENST00000305877.8	37	NULL	CCDS13806.1	22																																																																																			BCR	-	-		0.532	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1	G	NM_004327		23658000	+1	no_errors	ENST00000436990	ensembl	human	known	70_37	rna	SNP	0.002	A
C3	718	genome.wustl.edu	37	19	6696657	6696657	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr19:6696657C>A	ENST00000245907.6	-	22	2902	c.2810G>T	c.(2809-2811)aGa>aTa	p.R937I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	937					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TTTGTTCATTCTGATTCCTTC	0.582																																																	0													161.0	153.0	156.0					19																	6696657		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2810G>T	19.37:g.6696657C>A	ENSP00000245907:p.Arg937Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.R937I	ENST00000245907.6	37	c.2810	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	C	9.750	1.167143	0.21621	.	.	ENSG00000125730	ENST00000245907	T	0.35421	1.31	5.76	0.579	0.17397	.	0.351090	0.29080	N	0.013206	T	0.28566	0.0707	M	0.74881	2.28	0.09310	N	1	P	0.38504	0.634	B	0.34779	0.189	T	0.11891	-1.0569	10	0.33141	T	0.24	.	2.7367	0.05242	0.1414:0.5192:0.1586:0.1808	.	937	P01024	CO3_HUMAN	I	937	ENSP00000245907:R937I	ENSP00000245907:R937I	R	-	2	0	C3	6647657	0.016000	0.18221	0.005000	0.12908	0.157000	0.22087	0.971000	0.29396	0.349000	0.23975	-0.236000	0.12185	AGA	C3	-	NULL		0.582	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	C	NM_000064		6696657	-1	no_errors	ENST00000245907	ensembl	human	known	70_37	missense	SNP	0.000	A
CACNA1C	775	genome.wustl.edu	37	12	2794937	2794937	+	Missense_Mutation	SNP	C	C	T	rs201777030		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr12:2794937C>T	ENST00000347598.4	+	46	5753	c.5753C>T	c.(5752-5754)aCg>aTg	p.T1918M	CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1941M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1905M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1889M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1876M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1911M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1889M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1895M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1889M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1887M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1898M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1878M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1878M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1890M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1905M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1941M|CACNA1C-AS1_ENST00000501371.1_RNA	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1953					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.T1911M(1)|p.T1983M(1)|p.T1405M(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGCAACTGACGCTCCCAGAG	0.582																																																	3	Substitution - Missense(3)	skin(3)											49.0	49.0	49.0					12																	2794937		2012	4159	6171	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5753C>T	12.37:g.2794937C>T	ENSP00000266376:p.Thr1918Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.T1941M	ENST00000347598.4	37	c.5822	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802724	0.50315	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	4.26	4.26	0.50523	.	29.029300	0.00550	N	0.000258	T	0.70133	0.3189	L	0.56769	1.78	0.34775	D	0.734153	P;P;D;P;P;D;D;P;P;D;P;D;P;P;D;P;P;B;P;P;D;P;P;D;D	0.65815	0.863;0.922;0.995;0.664;0.934;0.988;0.992;0.869;0.638;0.966;0.922;0.989;0.927;0.783;0.992;0.677;0.927;0.317;0.922;0.485;0.985;0.869;0.869;0.981;0.995	B;P;P;B;P;P;P;P;B;P;P;P;P;P;P;B;P;B;P;B;P;P;P;P;P	0.56916	0.238;0.595;0.809;0.146;0.756;0.647;0.795;0.595;0.282;0.553;0.595;0.736;0.521;0.595;0.65;0.391;0.521;0.299;0.595;0.229;0.542;0.595;0.595;0.46;0.809	T	0.60281	-0.7294	10	0.38643	T	0.18	.	16.9179	0.86156	0.0:1.0:0.0:0.0	.	561;1911;1867;1953;1905;1889;1870;1887;1898;1870;1890;1870;1901;1918;1870;1905;1941;1878;1876;1878;1859;1889;1889;1870;1870	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	1895;1870;1870;1898;1870;1889;1889;1878;1870;1918;1890;1870;1911;1887;1905;1876;1889;1870;1941;1905;1941;1878;1771	ENSP00000336982:T1895M;ENSP00000382563:T1870M;ENSP00000382552:T1870M;ENSP00000382547:T1898M;ENSP00000382506:T1870M;ENSP00000382530:T1889M;ENSP00000382546:T1889M;ENSP00000382500:T1878M;ENSP00000382549:T1870M;ENSP00000266376:T1918M;ENSP00000382515:T1890M;ENSP00000382510:T1870M;ENSP00000341092:T1911M;ENSP00000382537:T1887M;ENSP00000329877:T1905M;ENSP00000382557:T1876M;ENSP00000385724:T1889M;ENSP00000382512:T1870M;ENSP00000382542:T1941M;ENSP00000382526:T1905M;ENSP00000385896:T1941M;ENSP00000382504:T1878M	ENSP00000323129:T1771M	T	+	2	0	CACNA1C	2665198	1.000000	0.71417	0.106000	0.21319	0.488000	0.33401	5.733000	0.68571	2.202000	0.70862	0.449000	0.29647	ACG	CACNA1C	-	NULL		0.582	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	C	NM_000719		2794937	+1	no_errors	ENST00000399634	ensembl	human	known	70_37	missense	SNP	0.939	T
CCNB3	85417	genome.wustl.edu	37	X	50051745	50051745	+	Silent	SNP	G	G	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chrX:50051745G>A	ENST00000376042.1	+	6	874	c.576G>A	c.(574-576)aaG>aaA	p.K192K	CCNB3_ENST00000276014.7_Silent_p.K192K|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	192					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TACTGGAAAAGCTACAGCCCC	0.413																																																	0													69.0	63.0	65.0					X																	50051745		2203	4300	6503	SO:0001819	synonymous_variant	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.576G>A	X.37:g.50051745G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like	p.K192	ENST00000376042.1	37	c.576	CCDS14331.1	X																																																																																			CCNB3	-	NULL		0.413	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	HGNC	protein_coding	OTTHUMT00000056558.1	G			50051745	+1	no_errors	ENST00000276014	ensembl	human	known	70_37	silent	SNP	0.002	A
CELSR3	1951	genome.wustl.edu	37	3	48697842	48697842	+	Silent	SNP	G	G	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr3:48697842G>A	ENST00000164024.4	-	1	2506	c.2226C>T	c.(2224-2226)gtC>gtT	p.V742V	CELSR3_ENST00000544264.1_Silent_p.V742V	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	742	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGTCACGGTGACACTGGCTG	0.562																																																	0													90.0	84.0	86.0					3																	48697842		2203	4300	6503	SO:0001819	synonymous_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2226C>T	3.37:g.48697842G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O75092	Silent	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.V742	ENST00000164024.4	37	c.2226	CCDS2775.1	3																																																																																			CELSR3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.562	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	G	NM_001407		48697842	-1	no_errors	ENST00000544264	ensembl	human	known	70_37	silent	SNP	0.995	A
CEP57	9702	genome.wustl.edu	37	11	95532468	95532468	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr11:95532468C>A	ENST00000325542.5	+	2	356	c.118C>A	c.(118-120)Cct>Act	p.P40T	CEP57_ENST00000538658.1_Missense_Mutation_p.P40T|CEP57_ENST00000537677.1_Missense_Mutation_p.P13T|CEP57_ENST00000541150.1_Missense_Mutation_p.P31T|CEP57_ENST00000325486.5_Missense_Mutation_p.P40T	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	40					fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGTAGTATATCCTTCGGATAA	0.423									Mosaic Variegated Aneuploidy Syndrome																																								0													157.0	141.0	146.0					11																	95532468		2201	4298	6499	SO:0001583	missense	9702	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.118C>A	11.37:g.95532468C>A	ENSP00000317902:p.Pro40Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	pfam_Cep57_MT-bd_dom	p.P40T	ENST00000325542.5	37	c.118	CCDS8304.1	11	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053995	0.55218	.	.	ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000544522;ENST00000541365;ENST00000538658;ENST00000541150	T;T;T;T;T;T	0.74526	0.02;0.65;0.66;-0.43;-0.85;-0.18	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000005	D	0.83968	0.5369	L	0.54323	1.7	0.51233	D	0.999914	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.997;0.998	D	0.85757	0.1347	10	0.87932	D	0	-5.8466	18.114	0.89545	0.0:1.0:0.0:0.0	.	31;40;40;40	F5H5F7;Q86XR8-2;Q86XR8;Q86XR8-3	.;.;CEP57_HUMAN;.	T	13;40;40;31;13;40;31	ENSP00000441392:P13T;ENSP00000317902:P40T;ENSP00000317487:P40T;ENSP00000445821:P13T;ENSP00000445706:P40T;ENSP00000443436:P31T	ENSP00000317487:P40T	P	+	1	0	CEP57	95172116	1.000000	0.71417	0.985000	0.45067	0.213000	0.24496	4.579000	0.60936	2.424000	0.82194	0.655000	0.94253	CCT	CEP57	-	NULL		0.423	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP57	HGNC	protein_coding	OTTHUMT00000395983.1	C	NM_014679		95532468	+1	no_errors	ENST00000325542	ensembl	human	known	70_37	missense	SNP	1.000	A
CHD1L	9557	genome.wustl.edu	37	1	146767152	146767152	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:146767152C>T	ENST00000369258.4	+	23	2676	c.2656C>T	c.(2656-2658)Cag>Tag	p.Q886*	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Nonsense_Mutation_p.Q792*|CHD1L_ENST00000369259.3_Nonsense_Mutation_p.Q682*|CHD1L_ENST00000361293.5_Nonsense_Mutation_p.Q605*	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	886	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CCTTCATGCACAGTCTTCATC	0.428																																																	0													128.0	114.0	119.0					1																	146767152		2203	4300	6503	SO:0001587	stop_gained	9557			AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2656C>T	1.37:g.146767152C>T	ENSP00000358262:p.Gln886*	Somatic		WXS	Illumina HiSeq	Phase_IV	A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_A1pp,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q886*	ENST00000369258.4	37	c.2656	CCDS927.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388223	0.82902	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	.	.	.	5.27	5.27	0.74061	.	0.470799	0.22495	N	0.059320	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	14.2767	0.66184	0.0:1.0:0.0:0.0	.	.	.	.	X	792;682;886;605	.	ENSP00000355100:Q605X	Q	+	1	0	CHD1L	145233776	0.280000	0.24249	0.131000	0.22000	0.024000	0.10985	2.181000	0.42547	2.735000	0.93741	0.655000	0.94253	CAG	CHD1L	-	pfscan_A1pp		0.428	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1L	HGNC	protein_coding	OTTHUMT00000040377.1	C	NM_004284		146767152	+1	no_errors	ENST00000369258	ensembl	human	known	70_37	nonsense	SNP	0.379	T
COL12A1	1303	genome.wustl.edu	37	6	75816178	75816178	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr6:75816178G>A	ENST00000322507.8	-	53	8444	c.8135C>T	c.(8134-8136)cCa>cTa	p.P2712L	COL12A1_ENST00000483888.2_Missense_Mutation_p.P2712L|COL12A1_ENST00000416123.2_Intron|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1548L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2712	Laminin G-like.|Nonhelical region (NC3).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGTCCACACTGGACTGCAGAC	0.413																																																	0													100.0	93.0	95.0					6																	75816178		1923	4138	6061	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8135C>T	6.37:g.75816178G>A	ENSP00000325146:p.Pro2712Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.P2712L	ENST00000322507.8	37	c.8135	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794943	0.31777	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000345356;ENST00000483888	T;T;T;T	0.02345	4.33;4.33;4.33;4.33	5.58	5.58	0.84498	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.136231	0.50627	D	0.000105	T	0.00967	0.0032	N	0.17345	0.48	0.52099	D	0.999949	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.57849	-0.7740	10	0.25106	T	0.35	.	12.8587	0.57901	0.0745:0.0:0.9255:0.0	.	1548;2712	Q99715-2;Q99715	.;COCA1_HUMAN	L	2712;350;1548;2712	ENSP00000325146:P2712L;ENSP00000399812:P350L;ENSP00000305147:P1548L;ENSP00000421216:P2712L	ENSP00000325146:P2712L	P	-	2	0	COL12A1	75872898	1.000000	0.71417	0.934000	0.37439	0.992000	0.81027	6.702000	0.74628	2.632000	0.89209	0.591000	0.81541	CCA	COL12A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.413	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	G	NM_004370		75816178	-1	no_errors	ENST00000322507	ensembl	human	known	70_37	missense	SNP	0.972	A
COL17A1	1308	genome.wustl.edu	37	10	105797434	105797434	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr10:105797434G>T	ENST00000353479.5	-	46	3458	c.3168C>A	c.(3166-3168)gaC>gaA	p.D1056E	COL17A1_ENST00000369733.3_Missense_Mutation_p.D1011E	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1056	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCTCTGAGTAGTCGAAAGTCT	0.587																																																	0													107.0	100.0	102.0					10																	105797434		2203	4300	6503	SO:0001583	missense	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.3168C>A	10.37:g.105797434G>T	ENSP00000340937:p.Asp1056Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	pfam_Collagen	p.D1056E	ENST00000353479.5	37	c.3168	CCDS7554.1	10	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232764	0.39498	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.92965	-3.14;-2.98	5.27	4.36	0.52297	.	0.582419	0.15073	N	0.282065	D	0.88112	0.6349	M	0.73217	2.22	0.80722	D	1	B	0.26400	0.148	B	0.24701	0.055	T	0.78026	-0.2365	10	0.02654	T	1	-7.6502	7.6883	0.28552	0.2292:0.0:0.7708:0.0	.	1056	Q9UMD9	COHA1_HUMAN	E	1056;1011	ENSP00000340937:D1056E;ENSP00000358748:D1011E	ENSP00000340937:D1056E	D	-	3	2	COL17A1	105787424	1.000000	0.71417	0.762000	0.31397	0.112000	0.19704	1.844000	0.39269	1.197000	0.43143	0.561000	0.74099	GAC	COL17A1	-	NULL		0.587	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	G	NM_130778, NM_000494		105797434	-1	no_errors	ENST00000353479	ensembl	human	known	70_37	missense	SNP	0.996	T
COL18A1	80781	genome.wustl.edu	37	21	46888226	46888226	+	Silent	SNP	G	G	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr21:46888226G>A	ENST00000359759.4	+	2	1443	c.1422G>A	c.(1420-1422)acG>acA	p.T474T	COL18A1_ENST00000400337.2_Silent_p.T59T|COL18A1_ENST00000355480.5_Silent_p.T239T			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	474	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCACCCAGACGGATGACCCCG	0.637																																																	0													44.0	53.0	50.0					21																	46888226		1990	4157	6147	SO:0001819	synonymous_variant	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.1422G>A	21.37:g.46888226G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.T474	ENST00000359759.4	37	c.1422		21																																																																																			COL18A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.637	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	G			46888226	+1	no_errors	ENST00000359759	ensembl	human	known	70_37	silent	SNP	0.000	A
COL6A5	256076	genome.wustl.edu	37	3	130095513	130095513	+	Silent	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr3:130095513G>T	ENST00000432398.2	+	3	995	c.501G>T	c.(499-501)gtG>gtT	p.V167V	COL6A5_ENST00000265379.6_Silent_p.V167V	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	167	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTATCTCCGTGGGGGTGCAGA	0.502																																																	0													75.0	78.0	77.0					3																	130095513		692	1591	2283	SO:0001819	synonymous_variant	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.501G>T	3.37:g.130095513G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.V167	ENST00000432398.2	37	c.501		3																																																																																			COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.502	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		G	NM_153264		130095513	+1	no_errors	ENST00000265379	ensembl	human	known	70_37	silent	SNP	1.000	T
CR2	1380	genome.wustl.edu	37	1	207642171	207642171	+	Frame_Shift_Del	DEL	T	T	-			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:207642171delT	ENST00000367058.3	+	4	850	c.661delT	c.(661-663)tttfs	p.F221fs	CR2_ENST00000367059.3_Frame_Shift_Del_p.F221fs|CR2_ENST00000367057.3_Frame_Shift_Del_p.F221fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Del_p.F221fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	221	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCTAGGACGATTTCCCAATGG	0.393																																																	0													94.0	89.0	91.0					1																	207642171		2203	4300	6503	SO:0001589	frameshift_variant	1380			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.661delT	1.37:g.207642171delT	ENSP00000356025:p.Phe221fs	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Del	DEL	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.N223fs	ENST00000367058.3	37	c.661	CCDS1478.1	1																																																																																			CR2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.393	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1	T	NM_001877		207642171	+1	no_errors	ENST00000367057	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-
CTNNA2	1496	genome.wustl.edu	37	2	80816449	80816449	+	Silent	SNP	G	G	A	rs199921745		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr2:80816449G>A	ENST00000402739.4	+	14	2033	c.2028G>A	c.(2026-2028)ccG>ccA	p.P676P	CTNNA2_ENST00000361291.4_Silent_p.P710P|CTNNA2_ENST00000466387.1_Silent_p.P676P|AC008067.2_ENST00000430876.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000343114.3_Silent_p.P355P|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000540488.1_Silent_p.P676P|CTNNA2_ENST00000541047.1_Silent_p.P676P|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000496558.1_Silent_p.P676P	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	676					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGCAACTACCGCAGGAGGAGA	0.517																																																	0													69.0	74.0	72.0					2																	80816449		2182	4295	6477	SO:0001819	synonymous_variant	1496				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2028G>A	2.37:g.80816449G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.P710	ENST00000402739.4	37	c.2130		2																																																																																			CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.517	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	G	NM_004389		80816449	+1	no_errors	ENST00000361291	ensembl	human	known	70_37	silent	SNP	0.133	A
CTNNA3	29119	genome.wustl.edu	37	10	68940115	68940115	+	Missense_Mutation	SNP	C	C	T	rs372482202		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr10:68940115C>T	ENST00000433211.2	-	7	1181	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	CTNNA3_ENST00000373744.4_Missense_Mutation_p.R336H|CTNNA3_ENST00000545309.1_Missense_Mutation_p.R336H	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AAGAGCCTGGCGAATGGCGTT	0.517																																																	0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	121.0	105.0	110.0		1007,1007	5.7	1.0	10		110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CTNNA3	NM_001127384.1,NM_013266.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	336/896,336/896	68940115	1,13005	2203	4300	6503	SO:0001583	missense	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1007G>A	10.37:g.68940115C>T	ENSP00000389714:p.Arg336His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.R336H	ENST00000433211.2	37	c.1007	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.416657	0.96092	0.0	1.16E-4	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.40225	1.04;1.04;1.13	5.71	5.71	0.89125	.	0.000000	0.51477	D	0.000086	T	0.71753	0.3377	M	0.89214	3.015	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.91635	0.999;0.999;0.93;0.997	T	0.76639	-0.2885	10	0.72032	D	0.01	-5.6623	18.6302	0.91357	0.0:1.0:0.0:0.0	.	336;336;336;336	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	H	336	ENSP00000389714:R336H;ENSP00000362849:R336H;ENSP00000441444:R336H	ENSP00000362849:R336H	R	-	2	0	CTNNA3	68610121	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	2.682000	0.91365	0.585000	0.79938	CGC	CTNNA3	-	pfam_Vinculin/catenin		0.517	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	C	NM_013266		68940115	-1	no_errors	ENST00000373744	ensembl	human	known	70_37	missense	SNP	1.000	T
DACH2	117154	genome.wustl.edu	37	X	85997720	85997720	+	Intron	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chrX:85997720G>T	ENST00000373125.4	+	7	1240				DACH2_ENST00000510272.1_Intron|DACH2_ENST00000373131.1_Intron|DACH2_ENST00000508860.1_Intron	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2						development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						ATTCCAAAAAGATAATTAAGG	0.303																																																	0																																										SO:0001627	intron_variant	117154			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1240+2835G>T	X.37:g.85997720G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.D439Y	ENST00000373125.4	37	c.1315	CCDS14455.1	X																																																																																			DACH2	-	NULL		0.303	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	HGNC	protein_coding	OTTHUMT00000359266.1	G	NM_053281		85997720	+1	no_errors	ENST00000461604	ensembl	human	known	70_37	missense	SNP	1.000	T
DMXL1	1657	genome.wustl.edu	37	5	118483070	118483070	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr5:118483070G>T	ENST00000311085.8	+	17	2896	c.2816G>T	c.(2815-2817)aGt>aTt	p.S939I	DMXL1_ENST00000539542.1_Missense_Mutation_p.S939I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	939										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AATCTCCAGAGTACCAGCAGG	0.408																																																	0													61.0	64.0	63.0					5																	118483070		2202	4300	6502	SO:0001583	missense	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.2816G>T	5.37:g.118483070G>T	ENSP00000309690:p.Ser939Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S939I	ENST00000311085.8	37	c.2816	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630863	0.87660	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.37752	1.18;1.18	5.82	5.82	0.92795	.	0.035107	0.85682	D	0.000000	T	0.58409	0.2120	M	0.72894	2.215	0.54753	D	0.999988	D;P	0.56968	0.978;0.894	P;P	0.58520	0.84;0.473	T	0.59123	-0.7513	10	0.66056	D	0.02	-17.1302	20.0984	0.97858	0.0:0.0:1.0:0.0	.	939;939	F5H269;Q9Y485	.;DMXL1_HUMAN	I	939	ENSP00000309690:S939I;ENSP00000439479:S939I	ENSP00000309690:S939I	S	+	2	0	DMXL1	118510969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.915000	0.63355	2.743000	0.94032	0.591000	0.81541	AGT	DMXL1	-	superfamily_WD40_repeat_dom		0.408	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	G	NM_005509		118483070	+1	no_errors	ENST00000539542	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAH9	1770	genome.wustl.edu	37	17	11835466	11835466	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr17:11835466G>T	ENST00000262442.4	+	64	12309	c.12241G>T	c.(12241-12243)Gga>Tga	p.G4081*	DNAH9_ENST00000608377.1_Nonsense_Mutation_p.G393*|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Nonsense_Mutation_p.G4005*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4081	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTTTAACACTGGAGACCTCAC	0.512																																																	0													154.0	134.0	141.0					17																	11835466		2203	4300	6503	SO:0001587	stop_gained	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12241G>T	17.37:g.11835466G>T	ENSP00000262442:p.Gly4081*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.G4081*	ENST00000262442.4	37	c.12241	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	52	19.823577	0.99924	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	.	.	.	5.09	5.09	0.68999	.	0.214056	0.49305	D	0.000146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6962	0.91601	0.0:0.0:1.0:0.0	.	.	.	.	X	4081;4005;2587;393	.	ENSP00000262442:G4081X	G	+	1	0	DNAH9	11776191	1.000000	0.71417	0.963000	0.40424	0.099000	0.18886	7.732000	0.84908	2.633000	0.89246	0.655000	0.94253	GGA	DNAH9	-	pfam_Dynein_heavy_dom		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	G	NM_001372		11835466	+1	no_errors	ENST00000262442	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DOT1L	84444	genome.wustl.edu	37	19	2217769	2217769	+	Splice_Site	SNP	A	A	G			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr19:2217769A>G	ENST00000398665.3	+	22	2580		c.e22-1		AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase						histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCGTCTGCAGGGCCTGAGA	0.672																																																	0													11.0	15.0	14.0					19																	2217769		2085	4215	6300	SO:0001630	splice_region_variant	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2545-1A>G	19.37:g.2217769A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O60379|Q96JL1	Splice_Site	SNP	-	e22-2	ENST00000398665.3	37	c.2545-2	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	A	10.94	1.491581	0.26774	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000440640	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8186	0.57679	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOT1L	2168769	1.000000	0.71417	0.933000	0.37362	0.018000	0.09664	6.416000	0.73332	1.964000	0.57103	0.334000	0.21626	.	DOT1L	-	-		0.672	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	A	NM_032482	Intron	2217769	+1	no_errors	ENST00000398665	ensembl	human	known	70_37	splice_site	SNP	1.000	G
DPP10	57628	genome.wustl.edu	37	2	116101413	116101413	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr2:116101413G>T	ENST00000410059.1	+	3	676	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	DPP10_ENST00000409163.1_Nonsense_Mutation_p.E16*|DPP10_ENST00000393147.2_Nonsense_Mutation_p.E70*|DPP10_ENST00000310323.8_Nonsense_Mutation_p.E59*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	66						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAATTCGTCAGAAACCAGATT	0.343																																																	0													89.0	93.0	92.0					2																	116101413		2203	4300	6503	SO:0001587	stop_gained	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.196G>T	2.37:g.116101413G>T	ENSP00000386565:p.Glu66*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Nonsense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.E70*	ENST00000410059.1	37	c.208	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.322525	0.98210	.	.	ENSG00000175497	ENST00000436732;ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	.	.	.	5.85	5.85	0.93711	.	0.210694	0.40640	N	0.001051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-11.1802	15.6508	0.77091	0.0:0.0:1.0:0.0	.	.	.	.	X	16;66;16;62;70;59;16;16	.	ENSP00000309066:E59X	E	+	1	0	DPP10	115817883	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.287000	0.65645	2.768000	0.95171	0.585000	0.79938	GAA	DPP10	-	NULL		0.343	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	G	NM_020868		116101413	+1	no_errors	ENST00000393147	ensembl	human	known	70_37	nonsense	SNP	1.000	T
AL109750.1	0	genome.wustl.edu	37	X	98640203	98640203	+	RNA	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chrX:98640203G>T	ENST00000516621.1	-	0	71																											ccagttatcagcccccactgg	0.627																																																	0																																												0																															X.37:g.98640203G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000516621.1	37	NULL		X																																																																																			AL109750.1	-	-		0.627	AL109750.1-201	NOVEL	basic	miRNA	ENSG00000252430	Clone_based_ensembl_gene	miRNA		G			98640203	-1	no_errors	ENST00000516621	ensembl	human	novel	70_37	rna	SNP	0.007	T
KPNB1	3837	genome.wustl.edu	37	17	45759980	45759980	+	3'UTR	SNP	C	C	G			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr17:45759980C>G	ENST00000290158.4	+	0	3248				KPNB1_ENST00000535458.2_3'UTR|RP11-138C9.1_ENST00000578482.1_RNA|KPNB1_ENST00000537679.1_3'UTR|KPNB1_ENST00000540627.1_3'UTR	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1						apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						TAAGTAAGCACTGACTTCGTA	0.433																																																	0																																										SO:0001624	3_prime_UTR_variant	0			L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.*210C>G	17.37:g.45759980C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	RNA	SNP	-	NULL	ENST00000290158.4	37	NULL	CCDS11513.1	17																																																																																			RP11-138C9.1	-	-		0.433	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000264558	Clone_based_vega_gene	protein_coding	OTTHUMT00000089755.2	C	NM_002265		45759980	-1	no_errors	ENST00000578482	ensembl	human	known	70_37	rna	SNP	1.000	G
EPC1	80314	genome.wustl.edu	37	10	32667508	32667508	+	5'UTR	SNP	C	C	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr10:32667508C>A	ENST00000375110.2	-	0	218					NM_001272019.2|NM_001282391.1	NP_001258948.1|NP_001269320.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)						chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CAACAGCCTCCAGGCAGCATA	0.413																																																	0																																										SO:0001623	5_prime_UTR_variant	80314			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000375110.2:c.-87G>T	10.37:g.32667508C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	RNA	SNP	-	NULL	ENST00000375110.2	37	NULL		10																																																																																			EPC1	-	-		0.413	EPC1-001	KNOWN	basic	protein_coding	EPC1	HGNC	protein_coding	OTTHUMT00000047481.2	C			32667508	-1	no_errors	ENST00000462470	ensembl	human	known	70_37	rna	SNP	1.000	A
FAM124B	79843	genome.wustl.edu	37	2	225244417	225244417	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr2:225244417C>A	ENST00000409685.3	-	2	1506	c.1241G>T	c.(1240-1242)aGa>aTa	p.R414I	FAM124B_ENST00000389874.3_3'UTR	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	414										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		AGGAGAGACTCTTTCCTTAAG	0.488																																																	0													61.0	58.0	59.0					2																	225244417		692	1591	2283	SO:0001583	missense	79843			AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.1241G>T	2.37:g.225244417C>A	ENSP00000386895:p.Arg414Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	NULL	p.R414I	ENST00000409685.3	37	c.1241	CCDS46527.1	2	.	.	.	.	.	.	.	.	.	.	C	9.614	1.132058	0.21041	.	.	ENSG00000124019	ENST00000409685	T	0.33654	1.4	6.03	4.19	0.49359	.	.	.	.	.	T	0.34948	0.0915	L	0.27053	0.805	0.80722	D	1	P	0.37158	0.585	P	0.48425	0.577	T	0.13818	-1.0495	9	0.40728	T	0.16	0.0787	9.6074	0.39641	0.0:0.7831:0.1411:0.0759	.	414	Q9H5Z6	F124B_HUMAN	I	414	ENSP00000386895:R414I	ENSP00000386895:R414I	R	-	2	0	FAM124B	224952661	0.028000	0.19301	0.368000	0.25939	0.045000	0.14185	0.767000	0.26575	1.578000	0.49821	0.650000	0.86243	AGA	FAM124B	-	NULL		0.488	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM124B	HGNC	protein_coding	OTTHUMT00000330873.1	C	NM_024785		225244417	-1	no_errors	ENST00000409685	ensembl	human	known	70_37	missense	SNP	0.769	A
FEZ1	9638	genome.wustl.edu	37	11	125351442	125351442	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr11:125351442G>T	ENST00000278919.3	-	3	633	c.399C>A	c.(397-399)tgC>tgA	p.C133*	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	133					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CAGTGTCAGAGCAGTTGCCAT	0.478																																					Melanoma(180;509 2033 10762 15939 24711)												0													166.0	170.0	169.0					11																	125351442		2201	4299	6500	SO:0001587	stop_gained	9638			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.399C>A	11.37:g.125351442G>T	ENSP00000278919:p.Cys133*	Somatic		WXS	Illumina HiSeq	Phase_IV	O00679|O00728|Q6IBI7	Nonsense_Mutation	SNP	pfam_FEZ	p.C133*	ENST00000278919.3	37	c.399	CCDS31716.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.849098	0.98522	.	.	ENSG00000149557	ENST00000278919	.	.	.	5.89	4.04	0.47022	.	0.390699	0.33938	N	0.004409	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-2.0068	7.3915	0.26913	0.1487:0.1379:0.7134:0.0	.	.	.	.	X	133	.	ENSP00000278919:C133X	C	-	3	2	FEZ1	124856652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.013000	0.29937	0.838000	0.34948	0.655000	0.94253	TGC	FEZ1	-	pfam_FEZ		0.478	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZ1	HGNC	protein_coding	OTTHUMT00000386875.1	G	NM_005103		125351442	-1	no_errors	ENST00000278919	ensembl	human	known	70_37	nonsense	SNP	1.000	T
FH	2271	genome.wustl.edu	37	1	241680522	241680522	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:241680522G>A	ENST00000366560.3	-	2	265	c.227C>T	c.(226-228)aCg>aTg	p.T76M	FH_ENST00000493477.1_5'UTR	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	76					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		AAAGTTCATCGTAGATCTCAC	0.423			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)		yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	fumarate hydratase		"""E, M"""	0													150.0	135.0	140.0					1																	241680522		2203	4300	6503	SO:0001583	missense	2271	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.227C>T	1.37:g.241680522G>A	ENSP00000355518:p.Thr76Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ANK7	Missense_Mutation	SNP	pfam_Lyase1_N,pfam_Fumarase_C_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase,tigrfam_Fum_hydII	p.T76M	ENST00000366560.3	37	c.227	CCDS1617.1	1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519741	0.44866	.	.	ENSG00000091483	ENST00000366560	D	0.99594	-6.25	5.75	4.83	0.62350	Lyase 1, N-terminal (1);L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.146224	0.64402	D	0.000008	D	0.97009	0.9023	N	0.02802	-0.49	0.80722	D	1	B	0.19817	0.039	B	0.16722	0.016	D	0.94910	0.8064	10	0.59425	D	0.04	-4.6703	14.1876	0.65617	0.0:0.0:0.8491:0.1509	.	76	P07954	FUMH_HUMAN	M	76	ENSP00000355518:T76M	ENSP00000355518:T76M	T	-	2	0	FH	239747145	1.000000	0.71417	0.661000	0.29709	0.799000	0.45148	7.537000	0.82033	1.552000	0.49463	0.650000	0.86243	ACG	FH	-	pfam_Lyase1_N,superfamily_L-Aspartase-like,tigrfam_Fum_hydII		0.423	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FH	HGNC	protein_coding	OTTHUMT00000095490.1	G	NM_000143		241680522	-1	no_errors	ENST00000366560	ensembl	human	known	70_37	missense	SNP	1.000	A
FLNC	2318	genome.wustl.edu	37	7	128480702	128480702	+	Silent	SNP	G	G	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr7:128480702G>A	ENST00000325888.8	+	10	1911	c.1650G>A	c.(1648-1650)acG>acA	p.T550T	FLNC_ENST00000346177.6_Silent_p.T550T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	550					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.T550T(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGACCATCACGTGGGGCGGCT	0.647																																																	1	Substitution - coding silent(1)	lung(1)											159.0	179.0	172.0					7																	128480702		2141	4237	6378	SO:0001819	synonymous_variant	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1650G>A	7.37:g.128480702G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.T550	ENST00000325888.8	37	c.1650	CCDS43644.1	7																																																																																			FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.647	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	G			128480702	+1	no_errors	ENST00000325888	ensembl	human	known	70_37	silent	SNP	0.001	A
FOXG1	2290	genome.wustl.edu	37	14	29236510	29236510	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr14:29236510G>C	ENST00000313071.4	+	1	224	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	RP11-966I7.1_ENST00000549487.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.E9Q|RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	9					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AGATAGGAAAGAGGTGAAAAT	0.677																																																	0													44.0	38.0	40.0					14																	29236510		2201	4293	6494	SO:0001583	missense	2290				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.25G>C	14.37:g.29236510G>C	ENSP00000339004:p.Glu9Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E9Q	ENST00000313071.4	37	c.25	CCDS9636.1	14	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273323	0.59649	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	T;T	0.42900	0.96;0.96	1.99	1.99	0.26369	.	0.852762	0.09466	U	0.798306	T	0.30634	0.0771	L	0.36672	1.1	0.37081	D	0.899003	P	0.35700	0.516	B	0.23018	0.043	T	0.40365	-0.9567	10	0.87932	D	0	.	11.8435	0.52368	0.0:0.0:1.0:0.0	.	9	P55316	FOXG1_HUMAN	Q	9	ENSP00000371975:E9Q;ENSP00000339004:E9Q	ENSP00000339004:E9Q	E	+	1	0	FOXG1	28306261	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.319000	0.59197	1.078000	0.41014	0.450000	0.29827	GAG	FOXG1	-	NULL		0.677	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXG1	HGNC	protein_coding	OTTHUMT00000276559.3	G			29236510	+1	no_errors	ENST00000313071	ensembl	human	known	70_37	missense	SNP	1.000	C
GAN	8139	genome.wustl.edu	37	16	81411053	81411053	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr16:81411053G>T	ENST00000568107.2	+	11	1808	c.1646G>T	c.(1645-1647)aGa>aTa	p.R549I		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	549					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GAGTTTAAAAGAAGCACAGGA	0.478																																					GBM(106;1239 1507 7582 9741 33976)												0													196.0	173.0	181.0					16																	81411053		2201	4300	6501	SO:0001583	missense	8139			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.1646G>T	16.37:g.81411053G>T	ENSP00000476795:p.Arg549Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R549I	ENST00000568107.2	37	c.1646	CCDS10935.1	16	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670785	0.67814	.	.	ENSG00000127688	ENST00000248272	T	0.62788	-0.0	5.67	5.67	0.87782	Galactose oxidase, beta-propeller (1);	0.145255	0.56097	D	0.000022	T	0.65565	0.2703	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.73949	-0.3821	10	0.87932	D	0	.	19.7682	0.96350	0.0:0.0:1.0:0.0	.	549	Q9H2C0	GAN_HUMAN	I	549	ENSP00000248272:R549I	ENSP00000248272:R549I	R	+	2	0	GAN	79968554	1.000000	0.71417	0.835000	0.33067	0.875000	0.50365	9.790000	0.99075	2.673000	0.90976	0.467000	0.42956	AGA	GAN	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.478	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAN	HGNC	protein_coding	OTTHUMT00000269050.3	G			81411053	+1	no_errors	ENST00000248272	ensembl	human	known	70_37	missense	SNP	0.999	T
GAPVD1	26130	genome.wustl.edu	37	9	128064910	128064910	+	Missense_Mutation	SNP	T	T	G			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr9:128064910T>G	ENST00000495955.1	+	5	1124	c.834T>G	c.(832-834)caT>caG	p.H278Q	GAPVD1_ENST00000394105.2_Missense_Mutation_p.H278Q|GAPVD1_ENST00000394084.1_Missense_Mutation_p.H278Q|GAPVD1_ENST00000312123.9_Missense_Mutation_p.H278Q|GAPVD1_ENST00000470056.1_Missense_Mutation_p.H278Q|GAPVD1_ENST00000265956.4_Missense_Mutation_p.H278Q|GAPVD1_ENST00000297933.6_Missense_Mutation_p.H278Q|RNU6-1020P_ENST00000363684.1_RNA|GAPVD1_ENST00000394083.2_Missense_Mutation_p.H278Q|GAPVD1_ENST00000394104.2_Missense_Mutation_p.H278Q			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	278	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GTTTTCCACATAGTTTAAGGT	0.418																																																	0													166.0	145.0	152.0					9																	128064910		2203	4300	6503	SO:0001583	missense	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.834T>G	9.37:g.128064910T>G	ENSP00000419063:p.His278Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP	p.H278Q	ENST00000495955.1	37	c.834		9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	7.361|7.361|7.361	0.624820|0.624820|0.624820	0.14193|0.14193|0.14193	.|.|.	.|.|.	ENSG00000165219|ENSG00000165219|ENSG00000165219	ENST00000394084;ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000431329|ENST00000436712	D;D;D;D;D;D;D;D;D;D|.|.	0.81579|.|.	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51|.|.	6.17|6.17|6.17	1.36|1.36|1.36	0.22044|0.22044|0.22044	Rho GTPase activation protein (1);Ras GTPase-activating protein (3);|.|.	0.044097|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.19846|0.19846|.	0.0477|0.0477|.	N|N|N	0.01705|0.01705|0.01705	-0.755|-0.755|-0.755	0.47065|0.47065|0.47065	D|D|D	0.999301|0.999301|0.999301	B;B;B;B;B;B;B|.|.	0.17465|.|.	0.018;0.022;0.007;0.007;0.007;0.018;0.0|.|.	B;B;B;B;B;B;B|.|.	0.17433|.|.	0.011;0.018;0.005;0.007;0.007;0.011;0.0|.|.	T|T|.	0.05084|0.05084|.	-1.0907|-1.0907|.	10|5|.	0.21540|.|.	T|.|.	0.41|.|.	.|.|.	9.9052|9.9052|9.9052	0.41372|0.41372|0.41372	0.0:0.4532:0.0:0.5468|0.0:0.4532:0.0:0.5468|0.0:0.4532:0.0:0.5468	.|.|.	278;278;278;278;278;278;278|.|.	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6;B0QZ65|.|.	.;GAPD1_HUMAN;.;.;.;.;.|.|.	Q|R|E	278|141|109	ENSP00000377646:H278Q;ENSP00000419767:H278Q;ENSP00000377665:H278Q;ENSP00000377664:H278Q;ENSP00000265956:H278Q;ENSP00000377645:H278Q;ENSP00000419063:H278Q;ENSP00000418747:H278Q;ENSP00000297933:H278Q;ENSP00000309582:H278Q|.|.	ENSP00000265956:H278Q|.|.	H|I|X	+|+|+	3|2|1	2|0|0	GAPVD1|GAPVD1|GAPVD1	127104731|127104731|127104731	0.832000|0.832000|0.832000	0.29368|0.29368|0.29368	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	-0.098000|-0.098000|-0.098000	0.11024|0.11024|0.11024	0.210000|0.210000|0.210000	0.20664|0.20664|0.20664	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	CAT|ATA|TAG	GAPVD1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,pfscan_RasGAP		0.418	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	HGNC	protein_coding	OTTHUMT00000355644.1	T			128064910	+1	no_errors	ENST00000394105	ensembl	human	known	70_37	missense	SNP	0.999	G
GIMAP1	170575	genome.wustl.edu	37	7	150417617	150417617	+	Silent	SNP	C	C	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr7:150417617C>T	ENST00000307194.5	+	3	665	c.525C>T	c.(523-525)cgC>cgT	p.R175R		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	175	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGCCTTGCGCGAGCTGGTGG	0.652																																																	0													42.0	47.0	45.0					7																	150417617		2203	4300	6503	SO:0001819	synonymous_variant	170575			AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.525C>T	7.37:g.150417617C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCI3|Q8NAZ0	Silent	SNP	pfam_AIG1	p.R175	ENST00000307194.5	37	c.525	CCDS5906.1	7																																																																																			GIMAP1	-	pfam_AIG1		0.652	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP1	HGNC	protein_coding	OTTHUMT00000348951.2	C	NM_130759		150417617	+1	no_errors	ENST00000307194	ensembl	human	known	70_37	silent	SNP	0.000	T
GLIS1	148979	genome.wustl.edu	37	1	53980322	53980322	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:53980322G>T	ENST00000312233.2	-	7	1900	c.1334C>A	c.(1333-1335)cCc>cAc	p.P445H		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CTCAGCCATGGGCAGAGGGGA	0.667																																																	0													94.0	95.0	95.0					1																	53980322		2203	4300	6503	SO:0001583	missense	148979			AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1334C>A	1.37:g.53980322G>T	ENSP00000309653:p.Pro445His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P445H	ENST00000312233.2	37	c.1334	CCDS582.1	1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241737	0.58995	.	.	ENSG00000174332	ENST00000312233	T	0.11385	2.78	4.97	4.97	0.65823	.	0.000000	0.46145	D	0.000315	T	0.11367	0.0277	L	0.29908	0.895	0.32677	N	0.516057	B	0.33448	0.412	B	0.40101	0.319	T	0.11542	-1.0583	10	0.24483	T	0.36	.	14.452	0.67392	0.0:0.0:1.0:0.0	.	445	Q8NBF1	GLIS1_HUMAN	H	445	ENSP00000309653:P445H	ENSP00000309653:P445H	P	-	2	0	GLIS1	53752910	1.000000	0.71417	0.950000	0.38849	0.889000	0.51656	3.928000	0.56506	2.688000	0.91661	0.563000	0.77884	CCC	GLIS1	-	NULL		0.667	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS1	HGNC	protein_coding	OTTHUMT00000022109.1	G	NM_147193		53980322	-1	no_errors	ENST00000312233	ensembl	human	known	70_37	missense	SNP	0.974	T
GLRA3	8001	genome.wustl.edu	37	4	175598419	175598419	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr4:175598419C>T	ENST00000274093.3	-	7	1239	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	GLRA3_ENST00000340217.5_Missense_Mutation_p.R246Q	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	246					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	CAGATGGAATCGCACTTCTAT	0.383																																																	0													107.0	102.0	104.0					4																	175598419		2203	4300	6503	SO:0001583	missense	8001			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.737G>A	4.37:g.175598419C>T	ENSP00000274093:p.Arg246Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.R246Q	ENST00000274093.3	37	c.737	CCDS3822.1	4	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198361	0.38806	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	T;T	0.78707	-1.2;-1.2	5.56	5.56	0.83823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.66187	0.2764	N	0.17474	0.49	0.49582	D	0.999801	B;B	0.23735	0.09;0.05	B;B	0.18561	0.013;0.022	T	0.60234	-0.7303	10	0.27785	T	0.31	.	19.5178	0.95171	0.0:1.0:0.0:0.0	.	246;246	O75311-2;O75311	.;GLRA3_HUMAN	Q	246	ENSP00000274093:R246Q;ENSP00000345284:R246Q	ENSP00000274093:R246Q	R	-	2	0	GLRA3	175834994	0.970000	0.33590	1.000000	0.80357	0.979000	0.70002	2.561000	0.45905	2.611000	0.88343	0.655000	0.94253	CGA	GLRA3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.383	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	GLRA3	HGNC	protein_coding	OTTHUMT00000313427.1	C			175598419	-1	no_errors	ENST00000274093	ensembl	human	known	70_37	missense	SNP	0.998	T
GOLGA2P5	55592	genome.wustl.edu	37	12	100562920	100562921	+	RNA	INS	-	-	T	rs58822438		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr12:100562920_100562921insT	ENST00000397112.4	-	0	599					NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GGTCTCATTTGTTTTttttttt	0.406																																																	0																																												55592																															12.37:g.100562931_100562931dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NSV2	RNA	INS	-	NULL	ENST00000397112.4	37	NULL		12																																																																																			GOLGA2B	-	-		0.406	GOLGA2B-004	KNOWN	basic	processed_transcript	GOLGA2P5	Clone_based_vega_gene	pseudogene	OTTHUMT00000396439.2	-			100562921	-1	no_errors	ENST00000421840	ensembl	human	known	70_37	rna	INS	0.000:0.000	T
GOLGA3	2802	genome.wustl.edu	37	12	133372557	133372557	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr12:133372557C>T	ENST00000450791.2	-	10	2533	c.2350G>A	c.(2350-2352)Gcg>Acg	p.A784T	GOLGA3_ENST00000456883.2_Missense_Mutation_p.A784T|GOLGA3_ENST00000537452.1_Missense_Mutation_p.A784T|GOLGA3_ENST00000545875.1_Missense_Mutation_p.A784T|GOLGA3_ENST00000204726.3_Missense_Mutation_p.A784T			Q08378	GOGA3_HUMAN	golgin A3	784					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTCTTGGCCGCCTGCAAAGCC	0.577																																																	0													63.0	65.0	65.0					12																	133372557		2203	4300	6503	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2350G>A	12.37:g.133372557C>T	ENSP00000410378:p.Ala784Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.A784T	ENST00000450791.2	37	c.2350	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762936	0.31228	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.47528	1.4;1.4;1.4;0.84;0.84	5.54	3.68	0.42216	.	0.144128	0.64402	N	0.000008	T	0.31796	0.0808	L	0.35414	1.06	0.80722	D	1	B;B;B	0.16603	0.015;0.008;0.018	B;B;B	0.17722	0.012;0.012;0.019	T	0.06481	-1.0824	10	0.13470	T	0.59	.	8.2714	0.31846	0.1311:0.73:0.0:0.1389	.	784;784;784	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	T	784	ENSP00000204726:A784T;ENSP00000410378:A784T;ENSP00000409303:A784T;ENSP00000442143:A784T;ENSP00000442603:A784T	ENSP00000204726:A784T	A	-	1	0	GOLGA3	131882630	1.000000	0.71417	0.233000	0.24025	0.257000	0.26127	2.693000	0.47027	0.675000	0.31264	0.655000	0.94253	GCG	GOLGA3	-	NULL		0.577	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	C	NM_005895		133372557	-1	no_errors	ENST00000204726	ensembl	human	known	70_37	missense	SNP	1.000	T
GOLGA4	2803	genome.wustl.edu	37	3	37337603	37337603	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr3:37337603G>T	ENST00000361924.2	+	7	1081	c.707G>T	c.(706-708)cGa>cTa	p.R236L	GOLGA4_ENST00000356847.4_Missense_Mutation_p.R258L|GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000435830.2_3'UTR	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	236					Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAACGATTACGAAATGGCCCG	0.388																																																	0													114.0	118.0	116.0					3																	37337603		2203	4300	6503	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.707G>T	3.37:g.37337603G>T	ENSP00000354486:p.Arg236Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.R236L	ENST00000361924.2	37	c.707	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921259	0.52653	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000450863;ENST00000437131	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	4.73	0.765	0.18470	.	0.316719	0.17703	N	0.164849	T	0.20210	0.0486	L	0.51422	1.61	0.23314	N	0.997927	B;B;B	0.30634	0.288;0.288;0.23	B;B;B	0.29524	0.042;0.103;0.071	T	0.13602	-1.0503	10	0.46703	T	0.11	.	7.1864	0.25801	0.6641:0.0:0.3359:0.0	.	236;258;236	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	L	236;258;241;107	ENSP00000354486:R236L;ENSP00000349305:R258L;ENSP00000387633:R241L;ENSP00000405842:R107L	ENSP00000349305:R258L	R	+	2	0	GOLGA4	37312607	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	0.657000	0.24963	0.272000	0.22027	0.467000	0.42956	CGA	GOLGA4	-	superfamily_Prefoldin		0.388	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	G	NM_002078		37337603	+1	no_errors	ENST00000361924	ensembl	human	known	70_37	missense	SNP	0.999	T
GOLGA6L2	283685	genome.wustl.edu	37	15	23685343	23685343	+	Missense_Mutation	SNP	T	T	C	rs74203443		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr15:23685343T>C	ENST00000567107.1	-	8	2331	c.2279A>G	c.(2278-2280)gAa>gGa	p.E760G	GOLGA6L2_ENST00000312015.5_Intron|GOLGA6L2_ENST00000345070.5_Intron			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	0										breast(1)|endometrium(7)	8						gtcttcttcttctcccgcatc	0.572																																																	0																																										SO:0001583	missense	283685			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.2279A>G	15.37:g.23685343T>C	ENSP00000454407:p.Glu760Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L301	Missense_Mutation	SNP	NULL	p.E760G	ENST00000567107.1	37	c.2279		15																																																																																			GOLGA6L2	-	NULL		0.572	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	T	NM_182561		23685343	-1	no_errors	ENST00000567107	ensembl	human	putative	70_37	missense	SNP	0.000	C
GOLGA6L2	283685	genome.wustl.edu	37	15	23685943	23685943	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr15:23685943C>T	ENST00000567107.1	-	8	1731	c.1679G>A	c.(1678-1680)gGa>gAa	p.G560E	GOLGA6L2_ENST00000312015.5_Intron|GOLGA6L2_ENST00000345070.5_Intron			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	0	Glu-rich.									breast(1)|endometrium(7)	8						tcctcctgctcccacatctgc	0.597																																																	0																																										SO:0001583	missense	283685			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.1679G>A	15.37:g.23685943C>T	ENSP00000454407:p.Gly560Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L301	Missense_Mutation	SNP	NULL	p.G560E	ENST00000567107.1	37	c.1679		15																																																																																			GOLGA6L2	-	NULL		0.597	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	C	NM_182561		23685943	-1	no_errors	ENST00000567107	ensembl	human	putative	70_37	missense	SNP	0.000	T
GRXCR1	389207	genome.wustl.edu	37	4	42895397	42895397	+	Silent	SNP	G	G	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr4:42895397G>A	ENST00000399770.2	+	1	114	c.114G>A	c.(112-114)ccG>ccA	p.P38P	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	38			P -> L (in DFNB25). {ECO:0000269|PubMed:20137774}.		auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						ATGGGCAACCGTCAGGCTCTC	0.517																																																	0													165.0	170.0	169.0					4																	42895397		1985	4172	6157	SO:0001819	synonymous_variant	389207				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.114G>A	4.37:g.42895397G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom	p.P38	ENST00000399770.2	37	c.114	CCDS43225.1	4																																																																																			GRXCR1	-	NULL		0.517	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRXCR1	HGNC	protein_coding	OTTHUMT00000360576.1	G	NM_001080476		42895397	+1	no_errors	ENST00000399770	ensembl	human	known	70_37	silent	SNP	0.000	A
HCN4	10021	genome.wustl.edu	37	15	73659973	73659973	+	Silent	SNP	G	G	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr15:73659973G>A	ENST00000261917.3	-	1	1632	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	213	Involved in subunit assembly. {ECO:0000250}.				blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGCGCTGCATGAAGCCGGCCT	0.667																																																	0													35.0	39.0	37.0					15																	73659973		2198	4297	6495	SO:0001819	synonymous_variant	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.639C>T	15.37:g.73659973G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UMQ7	Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.F213	ENST00000261917.3	37	c.639	CCDS10248.1	15																																																																																			HCN4	-	NULL		0.667	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2	G	NM_005477		73659973	-1	no_errors	ENST00000261917	ensembl	human	known	70_37	silent	SNP	1.000	A
HEXB	3074	genome.wustl.edu	37	5	74011394	74011394	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr5:74011394C>T	ENST00000261416.7	+	8	1078	c.961C>T	c.(961-963)Cct>Tct	p.P321S	HEXB_ENST00000511181.1_Missense_Mutation_p.P96S	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	321					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		CTCTTTTGGACCTATAAACCC	0.348																																					Melanoma(66;841 1270 13391 18706 27225)												0													116.0	127.0	123.0					5																	74011394		2203	4300	6503	SO:0001583	missense	3074			M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.961C>T	5.37:g.74011394C>T	ENSP00000261416:p.Pro321Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub	p.P321S	ENST00000261416.7	37	c.961	CCDS4022.1	5	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587961	0.86851	.	.	ENSG00000049860	ENST00000511181;ENST00000261416	D;D	0.89810	-2.57;-2.57	5.78	4.91	0.64330	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.000000	0.85682	D	0.000000	D	0.94892	0.8349	M	0.85373	2.75	0.80722	D	1	D	0.62365	0.991	D	0.73380	0.98	D	0.95631	0.8689	10	0.87932	D	0	-24.7201	16.9528	0.86250	0.0:0.8723:0.1277:0.0	.	321	P07686	HEXB_HUMAN	S	96;321	ENSP00000426285:P96S;ENSP00000261416:P321S	ENSP00000261416:P321S	P	+	1	0	HEXB	74047150	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.814000	0.86154	1.443000	0.47586	0.555000	0.69702	CCT	HEXB	-	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF		0.348	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXB	HGNC	protein_coding	OTTHUMT00000219859.6	C	NM_000521		74011394	+1	no_errors	ENST00000261416	ensembl	human	known	70_37	missense	SNP	1.000	T
HMHA1	23526	genome.wustl.edu	37	19	1073273	1073273	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr19:1073273C>G	ENST00000313093.2	+	3	778	c.547C>G	c.(547-549)Ctc>Gtc	p.L183V	HMHA1_ENST00000592335.1_3'UTR|HMHA1_ENST00000539243.2_Missense_Mutation_p.L199V|HMHA1_ENST00000590214.1_Missense_Mutation_p.L210V|HMHA1_ENST00000586866.1_Missense_Mutation_p.L187V|HMHA1_ENST00000536472.1_Missense_Mutation_p.L23V|HMHA1_ENST00000543365.1_Missense_Mutation_p.L66V	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	183					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCGGCACCCTCATTGCCAA	0.602																																																	0													56.0	53.0	54.0					19																	1073273		2202	4300	6502	SO:0001583	missense	23526			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.547C>G	19.37:g.1073273C>G	ENSP00000316772:p.Leu183Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.L183V	ENST00000313093.2	37	c.547	CCDS32863.1	19	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371504	0.61624	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.35421	1.57;1.56;1.51;1.31	4.16	4.16	0.48862	.	0.000000	0.64402	D	0.000001	T	0.50480	0.1618	L	0.42245	1.32	0.53688	D	0.999973	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.959;0.996;0.972	T	0.44267	-0.9339	10	0.32370	T	0.25	-27.5358	15.0034	0.71492	0.0:1.0:0.0:0.0	.	23;199;66;183	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	V	199;183;183;23;177;66	ENSP00000439601:L199V;ENSP00000316772:L183V;ENSP00000445109:L23V;ENSP00000438979:L66V	ENSP00000316772:L183V	L	+	1	0	HMHA1	1024273	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	5.543000	0.67225	1.855000	0.53841	0.491000	0.48974	CTC	HMHA1	-	NULL		0.602	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	HGNC	protein_coding	OTTHUMT00000458026.1	C			1073273	+1	no_errors	ENST00000313093	ensembl	human	known	70_37	missense	SNP	1.000	G
HSPB7	27129	genome.wustl.edu	37	1	16342139	16342139	+	Missense_Mutation	SNP	C	C	T	rs561575565		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:16342139C>T	ENST00000311890.9	-	3	1275	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	HSPB7_ENST00000411503.1_Missense_Mutation_p.R145Q|HSPB7_ENST00000406363.2_Missense_Mutation_p.R154Q|HSPB7_ENST00000375718.4_Missense_Mutation_p.R225Q|HSPB7_ENST00000487046.1_Missense_Mutation_p.R155Q	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	150					regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		ACGCCGTGCCCGGATAGTGAG	0.637													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16674	0.0		0.0	False		,,,				2504	0.0																0													107.0	87.0	94.0					1																	16342139		2203	4300	6503	SO:0001583	missense	27129			AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"""Heat shock proteins / HSPB"""	5249	protein-coding gene	gene with protein product		610692	"""heat shock 27kD protein family, member 7 (cardiovascular)"""			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531	ENST00000311890.9:c.449G>A	1.37:g.16342139C>T	ENSP00000310111:p.Arg150Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQ37|C9K0Y0|Q9NU17	Missense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.R155Q	ENST00000311890.9	37	c.464	CCDS30611.1	1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569450	0.65765	.	.	ENSG00000173641	ENST00000411503;ENST00000311890;ENST00000375718;ENST00000375714;ENST00000463576;ENST00000487046;ENST00000406363	D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	4.97	4.97	0.65823	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.172231	0.38217	N	0.001768	D	0.87505	0.6194	N	0.11818	0.18	0.80722	D	1	D;P;P;P;D	0.60575	0.988;0.852;0.852;0.78;0.966	P;B;B;B;P	0.51170	0.661;0.181;0.181;0.255;0.464	D	0.85919	0.1445	10	0.20519	T	0.43	-11.2927	14.9547	0.71104	0.0:1.0:0.0:0.0	.	225;171;171;238;150	Q8N241;Q7Z3C1;Q5T5Q1;Q5T5Q2;Q9UBY9	.;.;.;.;HSPB7_HUMAN	Q	145;150;225;243;104;155;154	ENSP00000391578:R145Q;ENSP00000310111:R150Q;ENSP00000364870:R225Q;ENSP00000417966:R104Q;ENSP00000419477:R155Q;ENSP00000385472:R154Q	ENSP00000310111:R150Q	R	-	2	0	HSPB7	16214726	0.969000	0.33509	0.999000	0.59377	0.901000	0.52897	2.132000	0.42083	2.296000	0.77279	0.561000	0.74099	CGG	HSPB7	-	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP		0.637	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HSPB7	HGNC	protein_coding	OTTHUMT00000026334.2	C	NM_014424		16342139	-1	no_errors	ENST00000487046	ensembl	human	known	70_37	missense	SNP	0.994	T
LMNTD1	160492	genome.wustl.edu	37	12	25679784	25679784	+	Silent	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr12:25679784G>T	ENST00000282881.6	-	4	683	c.534C>A	c.(532-534)ctC>ctA	p.L178L	IFLTD1_ENST00000458174.2_Silent_p.L199L|IFLTD1_ENST00000413632.2_Silent_p.L199L|IFLTD1_ENST00000445693.1_Silent_p.L115L|IFLTD1_ENST00000539744.1_Silent_p.L81L	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		178	LTD.				cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					CATTTTGCTGGAGAATATGAT	0.378																																																	0													146.0	141.0	143.0					12																	25679784		2203	4300	6503	SO:0001819	synonymous_variant	160492																														ENST00000282881.6:c.534C>A	12.37:g.25679784G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DL27|B4DY70|Q8IY38	Silent	SNP	pfam_Lamin_tail_dom	p.L199	ENST00000282881.6	37	c.597	CCDS8704.1	12																																																																																			IFLTD1	-	pfam_Lamin_tail_dom		0.378	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	IFLTD1	HGNC	protein_coding	OTTHUMT00000402279.1	G			25679784	-1	no_errors	ENST00000458174	ensembl	human	known	70_37	silent	SNP	0.986	T
IGFL3	388555	genome.wustl.edu	37	19	46627378	46627378	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr19:46627378G>A	ENST00000341415.2	-	3	139	c.115C>T	c.(115-117)Ccg>Tcg	p.P39S	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	39						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		CTGGGTGTCGGCTGGCACAGC	0.527																																																	0													68.0	72.0	70.0					19																	46627378		2186	4300	6486	SO:0001583	missense	388555			AY358434	CCDS33058.1	19q13.32	2006-07-14				ENSG00000188624			32930	protein-coding gene	gene with protein product		610546				14702039	Standard	NM_207393		Approved	UNQ483	uc002pea.1	Q6UXB1		ENST00000341415.2:c.115C>T	19.37:g.46627378G>A	ENSP00000344860:p.Pro39Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.P39S	ENST00000341415.2	37	c.115	CCDS33058.1	19	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251435	0.22880	.	.	ENSG00000188624	ENST00000341415	T	0.21031	2.03	0.983	-0.14	0.13456	.	.	.	.	.	T	0.22820	0.0551	L	0.38175	1.15	0.09310	N	1	D	0.56287	0.975	P	0.56343	0.796	T	0.12041	-1.0563	9	0.42905	T	0.14	-11.7063	3.2627	0.06854	0.3137:0.0:0.6863:0.0	.	39	Q6UXB1	IGFL3_HUMAN	S	39	ENSP00000344860:P39S	ENSP00000344860:P39S	P	-	1	0	IGFL3	51319218	0.034000	0.19679	0.196000	0.23383	0.083000	0.17756	0.096000	0.15147	-0.018000	0.14079	0.411000	0.27672	CCG	IGFL3	-	NULL		0.527	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFL3	HGNC	protein_coding	OTTHUMT00000421323.1	G	NM_207393		46627378	-1	no_errors	ENST00000341415	ensembl	human	known	70_37	missense	SNP	0.231	A
IL12RB2	3595	genome.wustl.edu	37	1	67787470	67787470	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:67787470C>A	ENST00000262345.1	+	3	902	c.262C>A	c.(262-264)Caa>Aaa	p.Q88K	IL12RB2_ENST00000541374.1_Missense_Mutation_p.Q88K|IL12RB2_ENST00000371000.1_Missense_Mutation_p.Q88K|IL12RB2_ENST00000544434.1_Missense_Mutation_p.Q88K	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	88					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CCTCAATTCTCAAGTCACAGG	0.433																																																	0													175.0	166.0	169.0					1																	67787470		2203	4300	6503	SO:0001583	missense	3595			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.262C>A	1.37:g.67787470C>A	ENSP00000262345:p.Gln88Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q88K	ENST00000262345.1	37	c.262	CCDS638.1	1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464224	0.26335	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.81	5.81	0.92471	Immunoglobulin C2-set-like, ligand-binding (1);	0.624908	0.18500	N	0.139379	T	0.60625	0.2283	L	0.32530	0.975	0.27628	N	0.948128	P;P;P;P	0.44195	0.777;0.631;0.561;0.828	B;B;B;B	0.43950	0.406;0.31;0.219;0.437	T	0.58335	-0.7654	10	0.27785	T	0.31	-6.831	15.5703	0.76330	0.0:1.0:0.0:0.0	.	88;88;88;88	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	K	88	ENSP00000262345:Q88K;ENSP00000360039:Q88K;ENSP00000445276:Q88K;ENSP00000442443:Q88K	ENSP00000262345:Q88K	Q	+	1	0	IL12RB2	67560058	0.012000	0.17670	0.560000	0.28344	0.007000	0.05969	2.283000	0.43470	2.739000	0.93911	0.650000	0.86243	CAA	IL12RB2	-	pfam_IgC2-like_lig-bd		0.433	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB2	HGNC	protein_coding	OTTHUMT00000025202.2	C	NM_001559		67787470	+1	no_errors	ENST00000262345	ensembl	human	known	70_37	missense	SNP	0.665	A
IL7	3574	genome.wustl.edu	37	8	79648739	79648739	+	Silent	SNP	G	G	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr8:79648739G>A	ENST00000263851.4	-	5	984	c.384C>T	c.(382-384)gcC>gcT	p.A128A	IL7_ENST00000541183.1_Intron|IL7_ENST00000519833.1_5'UTR|IL7_ENST00000520269.1_Silent_p.A84A	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	128					bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139)			endometrium(2)|large_intestine(2)|lung(1)	5						CTTCACCCAGGGCAGCTGGTT	0.318																																																	0													51.0	50.0	50.0					8																	79648739		2203	4299	6502	SO:0001819	synonymous_variant	3574			J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432		"""Interleukins and interleukin receptors"""	6023	protein-coding gene	gene with protein product		146660					Standard	NM_000880		Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.384C>T	8.37:g.79648739G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0N0L3|Q5FBY5|Q5FBY9	Silent	SNP	pfam_Interleukin_7_9,smart_Interleukin-7,pirsf_Interleukin-7,prints_Interleukin-7	p.A128	ENST00000263851.4	37	c.384	CCDS6224.1	8																																																																																			IL7	-	pfam_Interleukin_7_9,smart_Interleukin-7,pirsf_Interleukin-7		0.318	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL7	HGNC	protein_coding	OTTHUMT00000379429.1	G			79648739	-1	no_errors	ENST00000263851	ensembl	human	known	70_37	silent	SNP	0.001	A
KCNA3	3738	genome.wustl.edu	37	1	111217029	111217029	+	Missense_Mutation	SNP	G	G	A	rs375569294		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:111217029G>A	ENST00000369769.2	-	1	626	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	135					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	CTCATGCGCCGCTTGGGGTCG	0.647																																																	0													49.0	59.0	56.0					1																	111217029		2203	4300	6503	SO:0001583	missense	3738			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.403C>T	1.37:g.111217029G>A	ENSP00000358784:p.Arg135Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VWN2	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_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.R135W	ENST00000369769.2	37	c.403	CCDS828.2	1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367937	0.61513	.	.	ENSG00000177272	ENST00000369769	T	0.77489	-1.1	4.52	3.55	0.40652	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.068710	0.56097	U	0.000040	D	0.87759	0.6258	M	0.93808	3.46	0.42283	D	0.9921	D	0.76494	0.999	D	0.72625	0.978	D	0.89757	0.3944	10	0.87932	D	0	.	10.7679	0.46305	0.0:0.0:0.5756:0.4244	.	135	P22001	KCNA3_HUMAN	W	135	ENSP00000358784:R135W	ENSP00000358784:R135W	R	-	1	2	KCNA3	111018552	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.901000	0.56303	2.052000	0.61016	0.462000	0.41574	CGG	KCNA3	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1		0.647	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA3	HGNC	protein_coding	OTTHUMT00000083391.1	G	NM_002232		111217029	-1	no_errors	ENST00000369769	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNC3	3748	genome.wustl.edu	37	19	50832047	50832047	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr19:50832047C>T	ENST00000477616.1	-	1	587	c.293G>A	c.(292-294)cGc>cAc	p.R98H	KCNC3_ENST00000391818.2_Intron|NR1H2_ENST00000542413.1_5'Flank|KCNC3_ENST00000376959.2_Missense_Mutation_p.R98H|KCNC3_ENST00000474951.1_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	98					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|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)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	CGTCTCATGGCGCACGCCGCC	0.776																																					Melanoma(91;1496 2324 50908)												0													5.0	6.0	6.0					19																	50832047		2011	4000	6011	SO:0001583	missense	3748			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.293G>A	19.37:g.50832047C>T	ENSP00000434241:p.Arg98His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.R98H	ENST00000477616.1	37	c.293	CCDS12793.1	19	.	.	.	.	.	.	.	.	.	.	c	27.7	4.852888	0.91355	.	.	ENSG00000131398	ENST00000376959;ENST00000477616	T;T	0.78816	-1.21;-1.21	2.31	2.31	0.28768	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.56097	U	0.000040	D	0.86272	0.5893	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87120	0.2190	10	0.87932	D	0	.	10.3868	0.44145	0.0:1.0:0.0:0.0	.	98	Q14003	KCNC3_HUMAN	H	98	ENSP00000366158:R98H;ENSP00000434241:R98H	ENSP00000366158:R98H	R	-	2	0	KCNC3	55523859	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.538000	0.73852	1.327000	0.45338	0.177000	0.17058	CGC	KCNC3	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.776	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	HGNC	protein_coding	OTTHUMT00000314288.2	C	NM_004977		50832047	-1	no_errors	ENST00000477616	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNS3	3790	genome.wustl.edu	37	2	18112978	18112978	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr2:18112978G>A	ENST00000403915.1	+	3	1154	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.G235R	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	235					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGGTTCACCGGGGAGCTTGC	0.517																																																	0													87.0	86.0	86.0					2																	18112978		2203	4300	6503	SO:0001583	missense	3790			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.703G>A	2.37:g.18112978G>A	ENSP00000385968:p.Gly235Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W520|O43651|Q4ZFY1|Q96B56	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_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2	p.G235R	ENST00000403915.1	37	c.703	CCDS1692.1	2	.	.	.	.	.	.	.	.	.	.	G	9.954	1.220989	0.22457	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.98437	-4.93;-4.93	6.07	4.28	0.50868	Ion transport (1);	0.484707	0.23690	N	0.045530	D	0.95551	0.8554	L	0.43923	1.385	0.09310	N	1	P	0.38167	0.621	B	0.37833	0.259	D	0.91363	0.5113	10	0.66056	D	0.02	.	6.4072	0.21670	0.1353:0.0:0.6137:0.251	.	235	Q9BQ31	KCNS3_HUMAN	R	235	ENSP00000385968:G235R;ENSP00000305824:G235R	ENSP00000305824:G235R	G	+	1	0	KCNS3	17976459	0.013000	0.17824	0.318000	0.25279	0.979000	0.70002	1.050000	0.30404	0.894000	0.36317	0.655000	0.94253	GGG	KCNS3	-	pfam_Ion_trans_dom,prints_K_chnl		0.517	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS3	HGNC	protein_coding	OTTHUMT00000323808.1	G	NM_002252		18112978	+1	no_errors	ENST00000304101	ensembl	human	known	70_37	missense	SNP	0.043	A
KIAA1279	26128	genome.wustl.edu	37	10	70775886	70775886	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr10:70775886C>T	ENST00000361983.4	+	7	1682	c.1580C>T	c.(1579-1581)cCa>cTa	p.P527L		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	527					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						CTGAGAGACCCAAATAAAGTA	0.408																																																	0													83.0	81.0	82.0					10																	70775886		2203	4300	6503	SO:0001583	missense	26128			BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1580C>T	10.37:g.70775886C>T	ENSP00000354848:p.Pro527Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	pfam_KBP	p.P527L	ENST00000361983.4	37	c.1580	CCDS7284.1	10	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000406	0.54147	.	.	ENSG00000198954	ENST00000361983	T	0.49720	0.77	5.45	5.45	0.79879	.	0.047800	0.85682	D	0.000000	T	0.41743	0.1172	L	0.41236	1.265	0.80722	D	1	B	0.33637	0.42	B	0.31547	0.132	T	0.18241	-1.0343	10	0.24483	T	0.36	-29.8093	19.6556	0.95837	0.0:1.0:0.0:0.0	.	527	Q96EK5	KBP_HUMAN	L	527	ENSP00000354848:P527L	ENSP00000354848:P527L	P	+	2	0	KIAA1279	70445892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.940000	0.70187	2.725000	0.93324	0.655000	0.94253	CCA	KIAA1279	-	pfam_KBP		0.408	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1279	HGNC	protein_coding	OTTHUMT00000048370.1	C	NM_015634		70775886	+1	no_errors	ENST00000361983	ensembl	human	known	70_37	missense	SNP	1.000	T
KLC4	89953	genome.wustl.edu	37	6	43040984	43040984	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr6:43040984G>T	ENST00000394056.2	+	15	2148	c.1653G>T	c.(1651-1653)agG>agT	p.R551S	KLC4_ENST00000347162.5_Missense_Mutation_p.R551S|KLC4_ENST00000259708.3_Missense_Mutation_p.R569S|KLC4_ENST00000479388.1_Missense_Mutation_p.R551S|KLC4_ENST00000394058.1_Missense_Mutation_p.R551S|KLC4_ENST00000453940.2_Missense_Mutation_p.R474S|RP11-387M24.5_ENST00000606123.1_RNA			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	551						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			CCCTGCAGAGGAGTGGCTCTC	0.542																																																	0													53.0	49.0	51.0					6																	43040984		2203	4300	6503	SO:0001583	missense	89953			AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"""Tetratricopeptide (TTC) repeat domain containing"""	21624	protein-coding gene	gene with protein product			"""kinesin-like 8"""	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1653G>T	6.37:g.43040984G>T	ENSP00000377620:p.Arg551Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.R569S	ENST00000394056.2	37	c.1707	CCDS4883.1	6	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171902	0.78452	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	D;D;D;D;D;D	0.91686	-2.74;-2.89;-2.76;-2.74;-2.74;-2.74	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000002	D	0.93481	0.7920	M	0.74647	2.275	0.53005	D	0.999961	D;D;D	0.76494	0.999;0.989;0.981	D;D;D	0.78314	0.991;0.985;0.966	D	0.90986	0.4831	10	0.13470	T	0.59	-14.9044	13.1567	0.59522	0.0:0.1601:0.8399:0.0	.	474;569;551	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	S	551;474;569;551;551;551	ENSP00000340221:R551S;ENSP00000395806:R474S;ENSP00000259708:R569S;ENSP00000418031:R551S;ENSP00000377620:R551S;ENSP00000377622:R551S	ENSP00000259708:R569S	R	+	3	2	KLC4	43148962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.928000	0.28831	2.733000	0.93635	0.561000	0.74099	AGG	KLC4	-	NULL		0.542	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KLC4	HGNC	protein_coding	OTTHUMT00000040579.2	G	NM_138343		43040984	+1	no_errors	ENST00000259708	ensembl	human	known	70_37	missense	SNP	1.000	T
KLHL1	57626	genome.wustl.edu	37	13	70281894	70281894	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr13:70281894C>A	ENST00000377844.4	-	10	2809	c.2050G>T	c.(2050-2052)Gct>Tct	p.A684S	KLHL1_ENST00000545028.1_Missense_Mutation_p.A491S	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	684					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTCAAAGGAGCCACCATGGTC	0.378																																																	0													118.0	99.0	106.0					13																	70281894		2203	4299	6502	SO:0001583	missense	57626			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.2050G>T	13.37:g.70281894C>A	ENSP00000367075:p.Ala684Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.A684S	ENST00000377844.4	37	c.2050	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030299	0.54790	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.78816	-1.21;-1.21	5.43	4.53	0.55603	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000008	T	0.71031	0.3292	L	0.31120	0.905	0.39767	D	0.972102	B;B	0.18013	0.025;0.01	B;B	0.31245	0.126;0.126	T	0.70026	-0.4985	10	0.51188	T	0.08	.	15.303	0.73969	0.1405:0.8595:0.0:0.0	.	684;684	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	S	684;491	ENSP00000367075:A684S;ENSP00000439602:A491S	ENSP00000367075:A684S	A	-	1	0	KLHL1	69179895	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.765000	0.55272	2.710000	0.92621	0.650000	0.86243	GCT	KLHL1	-	pfam_Kelch_1,smart_Kelch_1		0.378	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	C	NM_020866		70281894	-1	no_errors	ENST00000377844	ensembl	human	known	70_37	missense	SNP	1.000	A
L3MBTL2	83746	genome.wustl.edu	37	22	41621884	41621884	+	Silent	SNP	C	C	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr22:41621884C>T	ENST00000216237.5	+	12	1601	c.1443C>T	c.(1441-1443)tcC>tcT	p.S481S		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	481					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATGCCTCTTCCCACGCCATCT	0.582																																																	0													118.0	83.0	95.0					22																	41621884		2203	4300	6503	SO:0001819	synonymous_variant	83746			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1443C>T	22.37:g.41621884C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Silent	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.S481	ENST00000216237.5	37	c.1443	CCDS14011.1	22																																																																																			L3MBTL2	-	pfam_Mbt,smart_Mbt,pfscan_Mbt		0.582	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL2	HGNC	protein_coding	OTTHUMT00000320613.1	C	NM_031488		41621884	+1	no_errors	ENST00000216237	ensembl	human	known	70_37	silent	SNP	0.998	T
U1	0	genome.wustl.edu	37	1	17198146	17198147	+	lincRNA	DEL	AC	AC	-	rs146740528		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:17198146_17198147delAC	ENST00000362684.1	+	0	0																											ACAAGCTCAGACAGCAGGACAA	0.599																																																	0																																												440570																															1.37:g.17198146_17198147delAC		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	DEL	-	NULL	ENST00000362684.1	37	NULL		1																																																																																			RP11-108M9.3	-	-		0.599	U1.1-201	KNOWN	basic	snRNA	LOC440570	Clone_based_vega_gene	lincRNA		AC			17198147	+1	no_errors	ENST00000438002	ensembl	human	known	70_37	rna	DEL	0.006:0.006	-
LRIT2	340745	genome.wustl.edu	37	10	85985198	85985198	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr10:85985198C>A	ENST00000372113.4	-	1	84	c.79G>T	c.(79-81)Gga>Tga	p.G27*	LRIT2_ENST00000538192.1_Nonsense_Mutation_p.G27*	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	27	LRRNT.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CAAGTGCATCCTGGCAGACAG	0.473																																																	0													69.0	65.0	67.0					10																	85985198		2203	4300	6503	SO:0001587	stop_gained	340745				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.79G>T	10.37:g.85985198C>A	ENSP00000361185:p.Gly27*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZME6	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G27*	ENST00000372113.4	37	c.79	CCDS31234.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.166469	0.94768	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	.	.	.	5.87	5.87	0.94306	.	0.159775	0.37955	N	0.001864	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	18.9802	0.92752	0.0:1.0:0.0:0.0	.	.	.	.	X	27	.	ENSP00000361185:G27X	G	-	1	0	LRIT2	85975178	1.000000	0.71417	0.230000	0.23976	0.732000	0.41865	5.175000	0.65021	2.791000	0.96007	0.655000	0.94253	GGA	LRIT2	-	NULL		0.473	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT2	HGNC	protein_coding	OTTHUMT00000049110.4	C	XM_291697		85985198	-1	no_errors	ENST00000538192	ensembl	human	known	70_37	nonsense	SNP	0.601	A
MAEL	84944	genome.wustl.edu	37	1	166959175	166959175	+	Intron	SNP	G	G	A	rs550879943		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:166959175G>A	ENST00000367872.4	+	2	469				MAEL_ENST00000367870.2_Intron|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer						cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TTGGGGGTTCGGTTAGTGCGA	0.488																																																	0																																										SO:0001627	intron_variant	84944			AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.225+109G>A	1.37:g.166959175G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	RNA	SNP	-	NULL	ENST00000367872.4	37	NULL	CCDS1257.1	1																																																																																			MAEL	-	-		0.488	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEL	HGNC	protein_coding	OTTHUMT00000083239.1	G	NM_032858		166959175	+1	no_errors	ENST00000491055	ensembl	human	known	70_37	rna	SNP	0.000	A
MAN1B1	11253	genome.wustl.edu	37	9	139994205	139994205	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr9:139994205G>A	ENST00000371589.4	+	6	861	c.788G>A	c.(787-789)gGa>gAa	p.G263E	MAN1B1_ENST00000474902.1_5'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	263					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GCATGGAAAGGATACCGCAAG	0.577																																																	0													267.0	197.0	221.0					9																	139994205		2203	4300	6503	SO:0001583	missense	11253			AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.788G>A	9.37:g.139994205G>A	ENSP00000360645:p.Gly263Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.G263E	ENST00000371589.4	37	c.788	CCDS7029.1	9	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610284	0.46527	.	.	ENSG00000177239	ENST00000371589	D	0.83250	-1.7	4.69	3.76	0.43208	.	0.000000	0.64402	U	0.000001	D	0.92512	0.7622	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93527	0.6866	9	.	.	.	-7.9476	13.468	0.61266	0.0:0.1586:0.8414:0.0	.	164;227;263;164	B4DPS9;B4DR05;Q9UKM7;Q68D80	.;.;MA1B1_HUMAN;.	E	263	ENSP00000360645:G263E	.	G	+	2	0	MAN1B1	139114026	1.000000	0.71417	0.022000	0.16811	0.028000	0.11728	7.600000	0.82769	0.912000	0.36772	0.491000	0.48974	GGA	MAN1B1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47		0.577	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1B1	HGNC	protein_coding	OTTHUMT00000055294.2	G	NM_016219		139994205	+1	no_errors	ENST00000371589	ensembl	human	known	70_37	missense	SNP	0.997	A
MAP3K1	4214	genome.wustl.edu	37	5	56174810	56174810	+	Missense_Mutation	SNP	A	A	G			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr5:56174810A>G	ENST00000399503.3	+	11	1969	c.1969A>G	c.(1969-1971)Aca>Gca	p.T657A		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	657					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TCCTTAGAAAACATTGAGAGC	0.378																																																	0													81.0	74.0	76.0					5																	56174810		1837	4087	5924	SO:0001583	missense	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1969A>G	5.37:g.56174810A>G	ENSP00000382423:p.Thr657Ala	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.T657A	ENST00000399503.3	37	c.1969	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705281	0.48412	.	.	ENSG00000095015	ENST00000399503	T	0.61980	0.06	5.46	4.28	0.50868	.	0.054916	0.64402	D	0.000001	T	0.58481	0.2125	L	0.56769	1.78	0.58432	D	0.999997	P	0.34546	0.456	B	0.35931	0.214	T	0.57957	-0.7721	10	0.45353	T	0.12	.	12.0332	0.53410	0.8705:0.0:0.0:0.1295	.	657	Q13233	M3K1_HUMAN	A	657	ENSP00000382423:T657A	ENSP00000382423:T657A	T	+	1	0	MAP3K1	56210567	1.000000	0.71417	0.990000	0.47175	0.172000	0.22775	7.672000	0.83956	0.992000	0.38840	-0.336000	0.08194	ACA	MAP3K1	-	superfamily_ARM-type_fold		0.378	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	A	XM_042066		56174810	+1	no_errors	ENST00000399503	ensembl	human	novel	70_37	missense	SNP	1.000	G
C1orf132	100128537	genome.wustl.edu	37	1	207975270	207975270	+	RNA	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:207975270G>T	ENST00000385231.1	-	0	14				C1orf132_ENST00000385055.1_RNA	NR_029832.1				chromosome 1 open reading frame 132																		AAATCGGTCAGCCTGTGTAAG	0.537																																																	0													29.0	29.0	29.0					1																	207975270		1568	3581	5149			407026			AK092969		1q32.2	2013-03-14			ENSG00000203709	ENSG00000203709			32018	other	unknown						14702039	Standard			Approved	FLJ35650			OTTHUMG00000036553		1.37:g.207975270G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000385231.1	37	NULL		1																																																																																			MIR29C	-	-		0.537	C1orf132-202	KNOWN	basic	miRNA	MIR29C	HGNC	processed_transcript		G			207975270	-1	no_errors	ENST00000385231	ensembl	human	known	70_37	rna	SNP	1.000	T
MLIP	90523	genome.wustl.edu	37	6	54002030	54002030	+	Intron	SNP	C	C	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr6:54002030C>T	ENST00000274897.5	+	4	725				MLIP_ENST00000514921.1_Missense_Mutation_p.S377F|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.S388F|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000370876.2_Intron	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein							nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CACGGCTCTTCTTCCACCATC	0.517																																																	0																																										SO:0001627	intron_variant	90523			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.613-11824C>T	6.37:g.54002030C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	NULL	p.S388F	ENST00000274897.5	37	c.1163	CCDS4954.1	6	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207175	0.58343	.	.	ENSG00000146147	ENST00000514921;ENST00000503951;ENST00000502396	T;T;T	0.62941	1.36;-0.01;1.36	5.24	4.36	0.52297	.	.	.	.	.	T	0.69079	0.3071	.	.	.	0.80722	D	1	D;D;D	0.63046	0.979;0.992;0.979	P;D;P	0.65443	0.852;0.935;0.891	T	0.74194	-0.3744	8	0.72032	D	0.01	.	10.2826	0.43548	0.0:0.9072:0.0:0.0928	.	388;388;377	Q5VWP3-3;B7ZA42;D6RE05	.;.;.	F	377;336;388	ENSP00000425142:S377F;ENSP00000426830:S336F;ENSP00000426290:S388F	ENSP00000426290:S388F	S	+	2	0	MLIP	54109989	0.998000	0.40836	0.302000	0.25058	0.870000	0.49936	2.240000	0.43088	1.186000	0.42985	0.591000	0.81541	TCT	MLIP	-	NULL		0.517	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	HGNC	protein_coding	OTTHUMT00000040979.3	C	NM_138569		54002030	+1	no_errors	ENST00000502396	ensembl	human	putative	70_37	missense	SNP	0.933	T
MPDZ	8777	genome.wustl.edu	37	9	13193262	13193262	+	Silent	SNP	C	C	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr9:13193262C>A	ENST00000319217.7	-	14	1954	c.1707G>T	c.(1705-1707)ctG>ctT	p.L569L	MPDZ_ENST00000541718.1_Silent_p.L569L|MPDZ_ENST00000381022.2_Silent_p.L569L|MPDZ_ENST00000381015.4_Silent_p.L569L|MPDZ_ENST00000546205.1_Silent_p.L569L|MPDZ_ENST00000447879.1_Silent_p.L569L|MPDZ_ENST00000536827.1_Silent_p.L569L	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	569	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTGTCGCTTCCAGGCTTATCC	0.423																																																	0													90.0	89.0	90.0					9																	13193262		1920	4120	6040	SO:0001819	synonymous_variant	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1707G>T	9.37:g.13193262C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.L569	ENST00000319217.7	37	c.1707		9																																																																																			MPDZ	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.423	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	C	NM_003829		13193262	-1	no_errors	ENST00000319217	ensembl	human	known	70_37	silent	SNP	1.000	A
MUC5B	727897	genome.wustl.edu	37	11	1265999	1265999	+	Missense_Mutation	SNP	T	T	C	rs371763448	byFrequency	TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr11:1265999T>C	ENST00000529681.1	+	31	7947	c.7889T>C	c.(7888-7890)cTt>cCt	p.L2630P	MUC5B_ENST00000447027.1_Missense_Mutation_p.L2633P|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2630	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|RTL -> LTP (in Ref. 4; CAA96577). {ECO:0000305}.	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)		p.L2630P(1)|p.L2609P(1)		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)		GCACGCACGCTTCCAGTGTGG	0.637													N|||	3	0.000599042	0.0	0.0014	5008	,	,		18926	0.001		0.001	False		,,,				2504	0.0																2	Substitution - Missense(2)	lung(2)											149.0	179.0	169.0					11																	1265999		2124	4236	6360	SO:0001583	missense	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.7889T>C	11.37:g.1265999T>C	ENSP00000436812:p.Leu2630Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	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.L2633P	ENST00000529681.1	37	c.7898	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	N	2.858	-0.236815	0.05944	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000537836	T;T	0.24350	1.86;2.05	1.88	-3.77	0.04346	.	.	.	.	.	T	0.15262	0.0368	L	0.33485	1.01	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.29822	-0.9999	9	0.87932	D	0	.	3.6655	0.08254	0.21:0.3112:0.0:0.4788	.	3268;2633	A7Y9J9;E9PBJ0	.;.	P	2630;2633;2602;2645;171	ENSP00000436812:L2630P;ENSP00000415793:L2633P	ENSP00000343037:L2602P	L	+	2	0	MUC5B	1222575	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.943000	0.03917	-0.876000	0.04017	0.172000	0.16884	CTT	MUC5B	-	NULL		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	T	XM_001126093		1265999	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.000	C
MUM1L1	139221	genome.wustl.edu	37	X	105450199	105450199	+	Silent	SNP	C	C	T	rs376673069		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chrX:105450199C>T	ENST00000357175.2	+	4	1423	c.774C>T	c.(772-774)agC>agT	p.S258S	MUM1L1_ENST00000337685.2_Silent_p.S258S|MUM1L1_ENST00000372552.1_Silent_p.S258S	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	258						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAGAAGAGAGCGAGGATACCT	0.453																																																	0								C	,	1,3251		0,0,1,1341,569	61.0	53.0	55.0		774,774	-1.2	0.0	X		55	0,6438		0,0,0,2327,1784	no	coding-synonymous,coding-synonymous	MUM1L1	NM_001171020.1,NM_152423.4	,	0,0,1,3668,2353	TT,TC,T,CC,C		0.0,0.0308,0.0103	,	258/697,258/697	105450199	1,9689	1911	4111	6022	SO:0001819	synonymous_variant	139221			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.774C>T	X.37:g.105450199C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Silent	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.S258	ENST00000357175.2	37	c.774	CCDS55469.1	X																																																																																			MUM1L1	-	NULL		0.453	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	C	NM_152423		105450199	+1	no_errors	ENST00000337685	ensembl	human	known	70_37	silent	SNP	0.000	T
MYH4	4622	genome.wustl.edu	37	17	10353794	10353794	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr17:10353794C>T	ENST00000255381.2	-	30	4267	c.4157G>A	c.(4156-4158)cGc>cAc	p.R1386H	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1386					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.R1386H(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCCTCTGTGCGCTGGATGGC	0.522																																																	1	Substitution - Missense(1)	large_intestine(1)											150.0	137.0	141.0					17																	10353794		2203	4300	6503	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4157G>A	17.37:g.10353794C>T	ENSP00000255381:p.Arg1386His	Somatic		WXS	Illumina HiSeq	Phase_IV		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,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1386H	ENST00000255381.2	37	c.4157	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.075236	0.94000	.	.	ENSG00000141048	ENST00000255381	T	0.80480	-1.38	5.67	5.67	0.87782	Myosin tail (1);	0.000000	0.38272	U	0.001748	D	0.90940	0.7152	M	0.82823	2.61	0.49798	D	0.999821	D	0.89917	1.0	D	0.81914	0.995	D	0.91303	0.5068	10	0.87932	D	0	.	20.1979	0.98245	0.0:1.0:0.0:0.0	.	1386	Q9Y623	MYH4_HUMAN	H	1386	ENSP00000255381:R1386H	ENSP00000255381:R1386H	R	-	2	0	MYH4	10294519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.846000	0.97976	0.650000	0.86243	CGC	MYH4	-	pfam_Myosin_tail		0.522	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	C	NM_017533		10353794	-1	no_errors	ENST00000255381	ensembl	human	known	70_37	missense	SNP	1.000	T
MYO16	23026	genome.wustl.edu	37	13	109831945	109831945	+	Silent	SNP	G	G	T	rs371399500		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr13:109831945G>T	ENST00000357550.2	+	33	5354	c.5313G>T	c.(5311-5313)tcG>tcT	p.S1771S	MYO16_ENST00000356711.2_Silent_p.S1771S|MYO16-AS1_ENST00000439299.1_RNA	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CAGGGACTTCGACATTTCAAA	0.433																																																	0													188.0	157.0	168.0					13																	109831945		2203	4300	6503	SO:0001819	synonymous_variant	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.5313G>T	13.37:g.109831945G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1771	ENST00000357550.2	37	c.5313	CCDS32008.1	13																																																																																			MYO16	-	NULL		0.433	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	G	NM_015011		109831945	+1	no_errors	ENST00000356711	ensembl	human	known	70_37	silent	SNP	0.000	T
MYO9B	4650	genome.wustl.edu	37	19	17323012	17323012	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr19:17323012G>A	ENST00000594824.1	+	40	6514	c.6367G>A	c.(6367-6369)Gcc>Acc	p.A2123T	MYO9B_ENST00000397274.2_3'UTR|MYO9B_ENST00000595618.1_3'UTR			Q13459	MYO9B_HUMAN	myosin IXB	2123	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGTGCAGGGCGCCCTGGAGCC	0.716																																																	0													6.0	8.0	7.0					19																	17323012		1856	4020	5876	SO:0001583	missense	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.6367G>A	19.37:g.17323012G>A	ENSP00000471367:p.Ala2123Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.A2123T	ENST00000594824.1	37	c.6367		19	.	.	.	.	.	.	.	.	.	.	G	2.308	-0.358588	0.05138	.	.	ENSG00000099331	ENST00000319396	.	.	.	3.55	-5.18	0.02840	.	1.261840	0.05889	N	0.627985	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15235	-1.0444	9	0.21540	T	0.41	.	0.9937	0.01462	0.3261:0.2682:0.2676:0.1381	.	2123	Q13459	MYO9B_HUMAN	T	468	.	ENSP00000314032:A468T	A	+	1	0	MYO9B	17184012	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.149000	0.16243	-0.915000	0.03823	-0.320000	0.08662	GCC	MYO9B	-	NULL		0.716	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	G			17323012	+1	no_errors	ENST00000594824	ensembl	human	known	70_37	missense	SNP	0.000	A
MYSM1	114803	genome.wustl.edu	37	1	59158365	59158365	+	Intron	SNP	G	G	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:59158365G>A	ENST00000472487.1	-	3	258					NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1						chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					AACAGAACCTGAGGAAGAAAA	0.338																																																	0																																										SO:0001627	intron_variant	114803			AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.218+167C>T	1.37:g.59158365G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	RNA	SNP	-	NULL	ENST00000472487.1	37	NULL	CCDS41343.1	1																																																																																			MYSM1	-	-		0.338	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYSM1	HGNC	protein_coding	OTTHUMT00000026343.2	G	XM_055481		59158365	-1	no_errors	ENST00000489282	ensembl	human	known	70_37	rna	SNP	0.000	A
NFXL1	152518	genome.wustl.edu	37	4	47880600	47880600	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr4:47880600G>T	ENST00000507489.1	-	17	2197	c.2021C>A	c.(2020-2022)aCa>aAa	p.T674K	NFXL1_ENST00000329043.3_Missense_Mutation_p.T674K|NFXL1_ENST00000381538.3_Missense_Mutation_p.T674K	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	674						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TTTCATACATGTGTGATTCTG	0.373																																																	0													204.0	200.0	201.0					4																	47880600		2203	4300	6503	SO:0001583	missense	152518			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2021C>A	4.37:g.47880600G>T	ENSP00000422037:p.Thr674Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING	p.T674K	ENST00000507489.1	37	c.2021	CCDS3478.2	4	.	.	.	.	.	.	.	.	.	.	G	9.436	1.086682	0.20390	.	.	ENSG00000170448	ENST00000381538;ENST00000507489;ENST00000329043	T;T;T	0.21734	1.99;1.99;1.99	5.33	2.62	0.31277	.	0.334719	0.30859	N	0.008735	T	0.10981	0.0268	N	0.25485	0.75	0.40556	D	0.981165	B	0.15719	0.014	B	0.18263	0.021	T	0.23797	-1.0178	10	0.02654	T	1	-5.4526	7.9143	0.29808	0.1396:0.0:0.7295:0.131	.	674	Q6ZNB6	NFXL1_HUMAN	K	674	ENSP00000370949:T674K;ENSP00000422037:T674K;ENSP00000333113:T674K	ENSP00000333113:T674K	T	-	2	0	NFXL1	47575357	0.869000	0.29996	0.572000	0.28498	0.959000	0.62525	1.144000	0.31565	0.224000	0.20940	0.591000	0.81541	ACA	NFXL1	-	NULL		0.373	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFXL1	HGNC	protein_coding	OTTHUMT00000361636.1	G	NM_152995		47880600	-1	no_errors	ENST00000381538	ensembl	human	known	70_37	missense	SNP	0.810	T
NKAIN2	154215	genome.wustl.edu	37	6	124604274	124604274	+	Missense_Mutation	SNP	C	C	T	rs142309299		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr6:124604274C>T	ENST00000368417.1	+	2	238	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C	NKAIN2_ENST00000546092.1_Missense_Mutation_p.R60C|NKAIN2_ENST00000368416.1_Missense_Mutation_p.R60C|NKAIN2_ENST00000545433.1_Missense_Mutation_p.R45C|NKAIN2_ENST00000476571.1_3'UTR	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		ATATAGACCTCGTTACATAAC	0.333																																																	0								C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	131.0	126.0	128.0		178,178	4.8	1.0	6	dbSNP_134	128	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NKAIN2	NM_001040214.1,NM_153355.3	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	60/209,60/142	124604274	1,13005	2203	4300	6503	SO:0001583	missense	154215			AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.178C>T	6.37:g.124604274C>T	ENSP00000357402:p.Arg60Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IYR4|Q8TF67	Missense_Mutation	SNP	pfam_Na/K-Atpase_Interacting	p.R60C	ENST00000368417.1	37	c.178	CCDS34526.1	6	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014293	0.75161	0.0	1.16E-4	ENSG00000188580	ENST00000368416;ENST00000368417;ENST00000546092;ENST00000539866;ENST00000545433	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.7	4.82	0.62117	.	0.060749	0.64402	D	0.000009	T	0.43765	0.1262	M	0.87682	2.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.988;0.992;0.993;0.99	T	0.57213	-0.7850	10	0.87932	D	0	-11.0366	15.9302	0.79654	0.1363:0.8637:0.0:0.0	.	60;59;60;60	F5GY48;Q5VXU1-3;Q5VXU1;Q5VXU1-2	.;.;NKAI2_HUMAN;.	C	60;60;60;59;45	ENSP00000357401:R60C;ENSP00000357402:R60C;ENSP00000440287:R60C;ENSP00000437798:R45C	ENSP00000357401:R60C	R	+	1	0	NKAIN2	124645973	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.121000	0.50438	1.376000	0.46267	0.655000	0.94253	CGT	NKAIN2	-	pfam_Na/K-Atpase_Interacting		0.333	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN2	HGNC	protein_coding	OTTHUMT00000042057.1	C	NM_001040214		124604274	+1	no_errors	ENST00000368417	ensembl	human	known	70_37	missense	SNP	1.000	T
PCNXL2	80003	genome.wustl.edu	37	1	233152734	233152734	+	Missense_Mutation	SNP	A	A	G	rs567156613		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:233152734A>G	ENST00000258229.9	-	27	5006	c.4772T>C	c.(4771-4773)aTc>aCc	p.I1591T	PCNXL2_ENST00000344698.2_Missense_Mutation_p.I243T	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1591						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGCTCGTGTGATCCCCTGGAG	0.493																																																	0													128.0	125.0	126.0					1																	233152734		1986	4167	6153	SO:0001583	missense	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4772T>C	1.37:g.233152734A>G	ENSP00000258229:p.Ile1591Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.I1591T	ENST00000258229.9	37	c.4772	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.864819	0.91511	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.35789	1.29;2.33	5.8	5.8	0.92144	.	0.097082	0.64402	D	0.000002	T	0.61286	0.2335	M	0.78456	2.415	0.80722	D	1	D;D	0.67145	0.996;0.982	D;P	0.67900	0.954;0.802	T	0.66176	-0.5989	10	0.87932	D	0	.	16.1384	0.81506	1.0:0.0:0.0:0.0	.	1591;243	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	T	243;1591	ENSP00000340759:I243T;ENSP00000258229:I1591T	ENSP00000258229:I1591T	I	-	2	0	PCNXL2	231219357	1.000000	0.71417	0.115000	0.21578	0.973000	0.67179	8.905000	0.92613	2.205000	0.71048	0.533000	0.62120	ATC	PCNXL2	-	NULL		0.493	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	A	NM_014801		233152734	-1	no_errors	ENST00000258229	ensembl	human	known	70_37	missense	SNP	0.935	G
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PJA2	9867	genome.wustl.edu	37	5	108714347	108714347	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr5:108714347G>T	ENST00000361189.2	-	4	1080	c.841C>A	c.(841-843)Cat>Aat	p.H281N	PJA2_ENST00000511624.1_5'Flank|PJA2_ENST00000361557.3_Missense_Mutation_p.H281N	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	281					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TCAGGTGAATGTTCTGTCTGT	0.408																																																	0													133.0	148.0	143.0					5																	108714347		2202	4300	6502	SO:0001583	missense	9867			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.841C>A	5.37:g.108714347G>T	ENSP00000354775:p.His281Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.H281N	ENST00000361189.2	37	c.841	CCDS4099.1	5	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.817665	0.00595	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.05025	3.51;3.51	5.61	1.88	0.25563	.	0.611971	0.17017	N	0.190244	T	0.01254	0.0041	N	0.00210	-1.845	0.19575	N	0.999967	B	0.02656	0.0	B	0.01281	0.0	T	0.46091	-0.9216	10	0.02654	T	1	-11.9213	9.2755	0.37696	0.0:0.0699:0.4965:0.4336	.	281	O43164	PJA2_HUMAN	N	281	ENSP00000354775:H281N;ENSP00000355284:H281N	ENSP00000354775:H281N	H	-	1	0	PJA2	108742246	0.209000	0.23505	0.936000	0.37596	0.436000	0.31835	0.414000	0.21164	0.470000	0.27294	-0.256000	0.11100	CAT	PJA2	-	NULL		0.408	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PJA2	HGNC	protein_coding	OTTHUMT00000250663.1	G	NM_014819		108714347	-1	no_errors	ENST00000361189	ensembl	human	known	70_37	missense	SNP	0.645	T
PLCE1	51196	genome.wustl.edu	37	10	96081752	96081752	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr10:96081752C>A	ENST00000371380.3	+	29	6672	c.6437C>A	c.(6436-6438)cCa>cAa	p.P2146Q	PLCE1_ENST00000260766.3_Missense_Mutation_p.P2146Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.P1838Q|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371385.3_Missense_Mutation_p.P1838Q			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2146	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GATGTTTCTCCAGAGCAACCT	0.473																																																	0													119.0	121.0	120.0					10																	96081752		2044	4193	6237	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6437C>A	10.37:g.96081752C>A	ENSP00000360431:p.Pro2146Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.P2146Q	ENST00000371380.3	37	c.6437	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981979	0.93044	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.83	5.83	0.93111	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.41419	0.1158	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.02333	-1.1175	10	0.45353	T	0.12	.	19.7299	0.96177	0.0:1.0:0.0:0.0	.	2130;1838;2146	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	Q	2146;2146;1838;1838	ENSP00000260766:P2146Q;ENSP00000360431:P2146Q;ENSP00000360438:P1838Q;ENSP00000360426:P1838Q	ENSP00000260766:P2146Q	P	+	2	0	PLCE1	96071742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.385000	0.79763	2.759000	0.94783	0.650000	0.86243	CCA	PLCE1	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.473	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	C	NM_016341		96081752	+1	no_errors	ENST00000371380	ensembl	human	known	70_37	missense	SNP	1.000	A
PNISR	25957	genome.wustl.edu	37	6	99857071	99857071	+	Silent	SNP	C	C	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr6:99857071C>A	ENST00000369239.5	-	6	855	c.651G>T	c.(649-651)gtG>gtT	p.V217V	PNISR_ENST00000438806.1_Silent_p.V217V|PNISR_ENST00000466057.1_5'Flank	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	217	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						GCTCCTGCTTCACAGGAAGTG	0.448																																																	0													82.0	78.0	80.0					6																	99857071		2203	4300	6503	SO:0001819	synonymous_variant	25957			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.651G>T	6.37:g.99857071C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Silent	SNP	NULL	p.V217	ENST00000369239.5	37	c.651	CCDS5043.1	6																																																																																			PNISR	-	NULL		0.448	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PNISR	HGNC	protein_coding	OTTHUMT00000041598.1	C	NM_032870		99857071	-1	no_errors	ENST00000369239	ensembl	human	known	70_37	silent	SNP	1.000	A
PNMA3	29944	genome.wustl.edu	37	X	152226470	152226470	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chrX:152226470C>T	ENST00000370264.4	+	1	1084	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	PNMA3_ENST00000447306.1_Missense_Mutation_p.A353V|PNMA3_ENST00000370265.4_Missense_Mutation_p.A353V			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	353					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAAGTAGCCCCAAGGCCA	0.627																																																	0													26.0	29.0	28.0					X																	152226470		2203	4300	6503	SO:0001583	missense	29944			AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.1058C>T	X.37:g.152226470C>T	ENSP00000359286:p.Ala353Val	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWT7|Q9H0A4	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.A353V	ENST00000370264.4	37	c.1058	CCDS35435.2	X	.	.	.	.	.	.	.	.	.	.	c	4.127	0.021769	0.08006	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.16073	2.37;2.41;2.41	1.86	-1.24	0.09435	.	.	.	.	.	T	0.06371	0.0164	N	0.08118	0	0.09310	N	1	B	0.24483	0.104	B	0.14023	0.01	T	0.35425	-0.9789	9	0.29301	T	0.29	.	2.8778	0.05638	0.3772:0.2628:0.36:0.0	.	353	Q9UL41	PNMA3_HUMAN	V	353	ENSP00000359288:A353V;ENSP00000407642:A353V;ENSP00000359286:A353V	ENSP00000359286:A353V	A	+	2	0	PNMA3	151977126	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.147000	0.10234	-0.532000	0.06332	-0.554000	0.04202	GCC	PNMA3	-	NULL		0.627	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA3	HGNC	protein_coding	OTTHUMT00000060946.2	C	NM_013364		152226470	+1	no_errors	ENST00000370264	ensembl	human	known	70_37	missense	SNP	0.000	T
POMC	5443	genome.wustl.edu	37	2	25384145	25384145	+	Silent	SNP	G	G	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr2:25384145G>A	ENST00000405623.1	-	3	1064	c.609C>T	c.(607-609)gcC>gcT	p.A203A	RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000264708.3_Silent_p.A203A|POMC_ENST00000395826.2_Silent_p.A203A|POMC_ENST00000380794.1_Silent_p.A203A			P01189	COLI_HUMAN	proopiomelanocortin	203					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	GCTCCAGGTCGGCCTGGGCCC	0.701																																					Colon(110;1515 1566 8452 10082 43216)												0													17.0	18.0	18.0					2																	25384145		2201	4299	6500	SO:0001819	synonymous_variant	5443				CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.609C>T	2.37:g.25384145G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	P78442|Q53T23|Q9UD39|Q9UD40	Silent	SNP	pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH	p.A203	ENST00000405623.1	37	c.609	CCDS1717.1	2																																																																																			POMC	-	NULL		0.701	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMC	HGNC	protein_coding	OTTHUMT00000211573.3	G	NM_001035256		25384145	-1	no_errors	ENST00000264708	ensembl	human	known	70_37	silent	SNP	0.153	A
PRRC2C	23215	genome.wustl.edu	37	1	171504696	171504696	+	Missense_Mutation	SNP	A	A	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:171504696A>T	ENST00000338920.4	+	13	2234	c.1997A>T	c.(1996-1998)cAg>cTg	p.Q666L	PRRC2C_ENST00000392078.3_Missense_Mutation_p.Q668L|PRRC2C_ENST00000367742.3_Missense_Mutation_p.Q668L|PRRC2C_ENST00000426496.2_Missense_Mutation_p.Q666L	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	666	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TATTTCAAACAGTTTCAGAAG	0.428																																																	0													141.0	152.0	148.0					1																	171504696		2203	4300	6503	SO:0001583	missense	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.1997A>T	1.37:g.171504696A>T	ENSP00000343629:p.Gln666Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	pfam_BAT2_N	p.Q668L	ENST00000338920.4	37	c.2003	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.915004	0.52546	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	5.38	5.38	0.77491	.	0.000000	0.44483	D	0.000450	T	0.18467	0.0443	M	0.61703	1.905	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.00675	-1.1615	10	0.87932	D	0	.	15.3996	0.74827	1.0:0.0:0.0:0.0	.	666	Q9Y520-4	.	L	668;667;666;668;666;423;425	ENSP00000375928:Q668L;ENSP00000410219:Q666L;ENSP00000356716:Q668L;ENSP00000343629:Q666L	ENSP00000343629:Q666L	Q	+	2	0	PRRC2C	169771320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.756000	0.74919	2.031000	0.59945	0.533000	0.62120	CAG	PRRC2C	-	NULL		0.428	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	A	NM_015172		171504696	+1	no_errors	ENST00000392078	ensembl	human	known	70_37	missense	SNP	1.000	T
PTCH1	5727	genome.wustl.edu	37	9	98209303	98209303	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr9:98209303G>T	ENST00000331920.6	-	23	4534	c.4235C>A	c.(4234-4236)cCc>cAc	p.P1412H	PTCH1_ENST00000429896.2_Missense_Mutation_p.P1261H|PTCH1_ENST00000418258.1_Missense_Mutation_p.P1261H|PTCH1_ENST00000437951.1_Missense_Mutation_p.P1346H|PTCH1_ENST00000375274.2_Missense_Mutation_p.P1411H|PTCH1_ENST00000430669.2_Missense_Mutation_p.P1346H|PTCH1_ENST00000421141.1_Missense_Mutation_p.P1261H	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1412					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AGGCACGTGGGGGTCCTCAAA	0.672																																																	0													80.0	81.0	81.0					9																	98209303		2203	4300	6503	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.4235C>A	9.37:g.98209303G>T	ENSP00000332353:p.Pro1412His	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.P1412H	ENST00000331920.6	37	c.4235	CCDS6714.1	9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	25.3|25.3|25.3	4.622104|4.622104|4.622104	0.87460|0.87460|0.87460	.|.|.	.|.|.	ENSG00000185920|ENSG00000185920|ENSG00000185920	ENST00000375284|ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274|ENST00000375284	.|D;D;D;D;D;D;D|.	.|0.91740|.	.|-2.89;-2.86;-2.85;-2.85;-2.86;-2.85;-2.9|.	5.06|5.06|5.06	5.06|5.06|5.06	0.68205|0.68205|0.68205	.|.|.	.|0.000000|0.000000	.|0.85682|0.85682	.|D|D	.|0.000000|0.000000	.|T|T	.|0.62600|0.62600	.|0.2441|0.2441	L|L|L	0.32530|0.32530|0.32530	0.975|0.975|0.975	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D|.	.|0.89917|.	.|1.0;1.0;1.0|.	.|D;D;D|.	.|0.91635|.	.|0.999;0.999;0.998|.	.|T|T	.|0.66143|0.66143	.|-0.5997|-0.5997	.|10|7	.|0.87932|0.87932	.|D|D	.|0|0	.|-26.4617|-26.4617	18.6101|18.6101|18.6101	0.91281|0.91281|0.91281	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|1346;1411;1412|.	.|Q13635-3;Q13635-2;Q13635|.	.|.;.;PTC1_HUMAN|.	.|H|T	-1|1412;1346;1261;1261;1346;1261;1411|204	.|ENSP00000332353:P1412H;ENSP00000389744:P1346H;ENSP00000399981:P1261H;ENSP00000396135:P1261H;ENSP00000410287:P1346H;ENSP00000414823:P1261H;ENSP00000364423:P1411H|.	.|ENSP00000332353:P1412H|ENSP00000364433:P204T	.|P|P	-|-|-	.|2|1	.|0|0	PTCH1|PTCH1|PTCH1	97249124|97249124|97249124	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	9.615000|9.615000|9.615000	0.98356|0.98356|0.98356	2.623000|2.623000|2.623000	0.88846|0.88846|0.88846	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	.|CCC|CCC	PTCH1	-	NULL		0.672	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	G	NM_000264		98209303	-1	no_errors	ENST00000331920	ensembl	human	known	70_37	missense	SNP	1.000	T
RAB33B	83452	genome.wustl.edu	37	4	140393933	140393933	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr4:140393933G>A	ENST00000305626.5	+	2	732	c.343G>A	c.(343-345)Gat>Aat	p.D115N		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	115					autophagy (GO:0006914)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of retrograde vesicle-mediated transport, Golgi to ER (GO:2000156)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					CTTCGTGTATGATATGACCAA	0.403																																																	0													132.0	110.0	117.0					4																	140393933		2203	4300	6503	SO:0001583	missense	83452			AF350420	CCDS3747.1	4q28	2008-02-05			ENSG00000172007	ENSG00000172007		"""RAB, member RAS oncogene"""	16075	protein-coding gene	gene with protein product		605950					Standard	NM_031296		Approved	DKFZP434G099	uc003ihv.3	Q9H082	OTTHUMG00000133384	ENST00000305626.5:c.343G>A	4.37:g.140393933G>A	ENSP00000306496:p.Asp115Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R987|Q4W5B0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,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.D115N	ENST00000305626.5	37	c.343	CCDS3747.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.509368	0.96386	.	.	ENSG00000172007	ENST00000305626	D	0.86769	-2.17	5.65	5.65	0.86999	Small GTP-binding protein domain (1);	0.042903	0.85682	D	0.000000	D	0.95404	0.8508	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95940	0.8946	10	0.87932	D	0	.	19.7209	0.96143	0.0:0.0:1.0:0.0	.	115	Q9H082	RB33B_HUMAN	N	115	ENSP00000306496:D115N	ENSP00000306496:D115N	D	+	1	0	RAB33B	140613383	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	9.869000	0.99810	2.669000	0.90835	0.484000	0.47621	GAT	RAB33B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.403	RAB33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB33B	HGNC	protein_coding	OTTHUMT00000257235.2	G	NM_031296		140393933	+1	no_errors	ENST00000305626	ensembl	human	known	70_37	missense	SNP	1.000	A
IFT22	64792	genome.wustl.edu	37	7	100959676	100959676	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr7:100959676C>T	ENST00000315322.4	-	4	447	c.354G>A	c.(352-354)atG>atA	p.M118I	RABL5_ENST00000437644.2_Missense_Mutation_p.M88I|RABL5_ENST00000495166.1_5'UTR|RABL5_ENST00000498704.2_Missense_Mutation_p.M41I|RABL5_ENST00000517481.1_Missense_Mutation_p.M41I	NM_022777.2	NP_073614.1	Q9H7X7	IFT22_HUMAN		118					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					GTGCAATTAGCATACACTGTG	0.448																																																	0													201.0	169.0	180.0					7																	100959676		2203	4300	6503	SO:0001583	missense	64792																														ENST00000315322.4:c.354G>A	7.37:g.100959676C>T	ENSP00000320359:p.Met118Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AG1|Q69YV5|Q9BSW4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,pfam_SRP_receptor_beta_su	p.M118I	ENST00000315322.4	37	c.354	CCDS5719.1	7	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454477	0.26161	.	.	ENSG00000128581	ENST00000517481;ENST00000315322;ENST00000498704;ENST00000437644	T;T	0.76186	-0.51;-1.0	6.08	-2.13	0.07144	.	0.129591	0.51477	D	0.000090	T	0.49712	0.1573	N	0.16656	0.425	0.22684	N	0.998859	B;B;B	0.15719	0.014;0.011;0.003	B;B;B	0.15870	0.014;0.004;0.01	T	0.33979	-0.9847	10	0.16420	T	0.52	-15.4211	8.4954	0.33125	0.1737:0.1741:0.5827:0.0695	.	118;88;118	B7Z2E8;Q9H7X7-2;Q9H7X7	.;.;RABL5_HUMAN	I	41;118;41;88	ENSP00000320359:M118I;ENSP00000390770:M88I	ENSP00000320359:M118I	M	-	3	0	RABL5	100746396	0.817000	0.29147	0.020000	0.16555	0.607000	0.37147	-0.049000	0.11924	-0.075000	0.12798	-0.175000	0.13238	ATG	RABL5	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su		0.448	RABL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABL5	HGNC	protein_coding	OTTHUMT00000347565.1	C			100959676	-1	no_errors	ENST00000315322	ensembl	human	known	70_37	missense	SNP	0.132	T
RASAL3	64926	genome.wustl.edu	37	19	15575085	15575085	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr19:15575085C>T	ENST00000343625.7	-	2	170	c.85G>A	c.(85-87)Ggc>Agc	p.G29S		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	29	Poly-Gly.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						TCCCCACCGCCCCCTGTGTGC	0.711																																																	0													25.0	30.0	28.0					19																	15575085		1938	4150	6088	SO:0001583	missense	64926				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.85G>A	19.37:g.15575085C>T	ENSP00000341905:p.Gly29Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N2T9|Q9H735	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP	p.G29S	ENST00000343625.7	37	c.85	CCDS46006.1	19	.	.	.	.	.	.	.	.	.	.	C	5.297	0.240126	0.10023	.	.	ENSG00000105122	ENST00000343625	T	0.23552	1.9	4.11	0.389	0.16269	.	.	.	.	.	T	0.20861	0.0502	L	0.57536	1.79	0.09310	N	1	B	0.26081	0.141	B	0.22152	0.038	T	0.23762	-1.0179	9	0.37606	T	0.19	.	4.0874	0.09953	0.156:0.5774:0.1561:0.1105	.	29	Q86YV0	RASL3_HUMAN	S	29	ENSP00000341905:G29S	ENSP00000341905:G29S	G	-	1	0	RASAL3	15436085	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.429000	0.06982	-0.167000	0.10871	-1.943000	0.00494	GGC	RASAL3	-	NULL		0.711	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASAL3	HGNC	protein_coding	OTTHUMT00000461331.3	C	NM_022904		15575085	-1	no_errors	ENST00000343625	ensembl	human	known	70_37	missense	SNP	0.000	T
RNF213	57674	genome.wustl.edu	37	17	78360193	78360193	+	Missense_Mutation	SNP	G	G	T	rs534338467	byFrequency	TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr17:78360193G>T	ENST00000582970.1	+	62	14826	c.14683G>T	c.(14683-14685)Gtc>Ttc	p.V4895F	CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000336301.6_Missense_Mutation_p.V2968F|RNF213_ENST00000508628.2_Missense_Mutation_p.V4944F	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4895					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAATGAAATTGTCTACGCCGT	0.562																																																	0													96.0	88.0	91.0					17																	78360193		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14683G>T	17.37:g.78360193G>T	ENSP00000464087:p.Val4895Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.V4895F	ENST00000582970.1	37	c.14683	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425505	0.43020	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.30182	1.54	5.18	-0.478	0.12093	.	0.561167	0.17558	N	0.169935	T	0.45236	0.1332	M	0.74881	2.28	0.19775	N	0.999953	D	0.71674	0.998	D	0.63283	0.913	T	0.30679	-0.9970	10	0.72032	D	0.01	.	6.308	0.21149	0.2626:0.2202:0.5172:0.0	.	2968	Q63HN8	RN213_HUMAN	F	4895;4944;2968;245	ENSP00000338218:V2968F	ENSP00000338218:V2968F	V	+	1	0	RNF213	75974788	0.074000	0.21230	0.000000	0.03702	0.331000	0.28603	0.375000	0.20518	-0.284000	0.09102	0.555000	0.69702	GTC	RNF213	-	NULL		0.562	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	G	NM_020914		78360193	+1	no_errors	ENST00000582970	ensembl	human	known	70_37	missense	SNP	0.055	T
RSG1	79363	genome.wustl.edu	37	1	16558560	16558560	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:16558560C>T	ENST00000375599.3	-	5	1179	c.760G>A	c.(760-762)Gag>Aag	p.E254K	C1orf134_ENST00000375605.2_5'Flank	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	254	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						GGAGCACTCTCTGGGGGGTTG	0.637																																																	0													63.0	68.0	66.0					1																	16558560		2203	4300	6503	SO:0001583	missense	79363			BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"""Rem/Rab-Similar GTPase 1"""		"""chromosome 1 open reading frame 89"""	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.760G>A	1.37:g.16558560C>T	ENSP00000364749:p.Glu254Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TEV7	Missense_Mutation	SNP	pfam_MIRO-like,pfam_Small_GTPase,prints_Small_GTPase	p.E254K	ENST00000375599.3	37	c.760	CCDS171.1	1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.698867	0.48307	.	.	ENSG00000132881	ENST00000375599	T	0.56275	0.47	5.47	4.56	0.56223	.	0.292350	0.32987	N	0.005417	T	0.29684	0.0741	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.13872	-1.0493	10	0.22109	T	0.4	-3.7964	10.1968	0.43060	0.0:0.9088:0.0:0.0912	.	254	Q9BU20	RSG1_HUMAN	K	254	ENSP00000364749:E254K	ENSP00000364749:E254K	E	-	1	0	RSG1	16431147	0.717000	0.27966	0.165000	0.22776	0.169000	0.22640	3.150000	0.50662	1.305000	0.44909	-0.136000	0.14681	GAG	RSG1	-	NULL		0.637	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSG1	HGNC	protein_coding	OTTHUMT00000006279.2	C	NM_030907		16558560	-1	no_errors	ENST00000375599	ensembl	human	known	70_37	missense	SNP	0.140	T
RNPC3	55599	genome.wustl.edu	37	1	104085920	104085920	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:104085920G>T	ENST00000533099.1	+	10	1132	c.896G>T	c.(895-897)aGt>aTt	p.S299I	RNPC3_ENST00000524631.1_Splice_Site|RNPC3_ENST00000423855.2_Missense_Mutation_p.S299I			Q96LT9	RBM40_HUMAN	RNA-binding region (RNP1, RRM) containing 3	299	Necessary for binding to m(7)G-capped U12 snRNA.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)		TTAAATAGCAGTTTACATCCA	0.303																																																	0													73.0	63.0	66.0					1																	104085920		692	1589	2281	SO:0001583	missense	55599			AB058742, AY099329	CCDS781.1	1p21.1	2013-07-16			ENSG00000185946	ENSG00000185946		"""RNA binding motif (RRM) containing"""	18666	protein-coding gene	gene with protein product	"""U11/U12 snRNP 65K"""					14974681, 15146077	Standard	NM_017619		Approved	KIAA1839, FLJ20008, RBM40, SNRNP65	uc010oun.2	Q96LT9	OTTHUMG00000166613	ENST00000533099.1:c.896G>T	1.37:g.104085920G>T	ENSP00000432886:p.Ser299Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1C9|D3DT74|Q5TZ87|Q96FK7|Q96JI8|Q9NSU7|Q9NXX2	Splice_Site	SNP	-	e9-1	ENST00000533099.1	37	c.894-1	CCDS781.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.86|11.86|11.86	1.765845|1.765845|1.765845	0.31228|0.31228|0.31228	.|.|.	.|.|.	ENSG00000185946|ENSG00000185946|ENSG00000185946	ENST00000524631|ENST00000533099;ENST00000423855|ENST00000524641	.|T;T|.	.|0.19394|.	.|2.15;2.15|.	5.7|5.7|5.7	0.998|0.998|0.998	0.19857|0.19857|0.19857	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.19208|0.19208	.|0.0461|0.0461	L|L|L	0.43152|0.43152|0.43152	1.355|1.355|1.355	0.28456|0.28456|0.28456	N|N|N	0.916138|0.916138|0.916138	.|B|.	.|0.20671|.	.|0.047|.	.|B|.	.|0.16289|.	.|0.015|.	.|T|T	.|0.20974|0.20974	.|-1.0259|-1.0259	.|9|5	.|0.52906|.	.|T|.	.|0.07|.	.|.|.	8.6043|8.6043|8.6043	0.33764|0.33764|0.33764	0.697:0.0:0.303:0.0|0.697:0.0:0.303:0.0|0.697:0.0:0.303:0.0	.|.|.	.|299|.	.|Q96LT9|.	.|RBM40_HUMAN|.	.|I|F	-1|299|40	.|ENSP00000432886:S299I;ENSP00000391432:S299I|.	.|ENSP00000391432:S299I|.	.|S|V	+|+|+	.|2|1	.|0|0	RNPC3|RNPC3|RNPC3	.|.|.	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.306000|0.306000|0.306000	0.25113|0.25113|0.25113	0.940000|0.940000|0.940000	0.58332|0.58332|0.58332	1.071000|1.071000|1.071000	0.30666|0.30666|0.30666	-0.050000|-0.050000|-0.050000	0.13356|0.13356|0.13356	-0.302000|-0.302000|-0.302000	0.09304|0.09304|0.09304	.|AGT|GTT	RNPC3	-	-		0.303	RNPC3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNPC3	HGNC	protein_coding	OTTHUMT00000390812.1	G	NM_017619		104085920	+1	no_errors	ENST00000524631	ensembl	human	novel	70_37	splice_site	SNP	0.715	T
RSRC2	65117	genome.wustl.edu	37	12	122995725	122995725	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr12:122995725C>A	ENST00000331738.7	-	7	881	c.736G>T	c.(736-738)Gca>Tca	p.A246S	RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Missense_Mutation_p.A198S	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	246							poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		AATTTCTTTGCCCTTTCCAAC	0.299																																																	0													88.0	81.0	83.0					12																	122995725		2202	4299	6501	SO:0001583	missense	65117			AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.736G>T	12.37:g.122995725C>A	ENSP00000330188:p.Ala246Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	NULL	p.A246S	ENST00000331738.7	37	c.736	CCDS31920.1	12	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424358	0.83667	.	.	ENSG00000111011	ENST00000331738;ENST00000354654;ENST00000418773;ENST00000344591	T;T;T	0.21543	2.0;2.0;2.0	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	L	0.29908	0.895	0.58432	D	0.999999	D;D;D;D;D	0.61697	0.99;0.972;0.99;0.972;0.972	D;D;D;D;P	0.70935	0.971;0.971;0.971;0.971;0.866	T	0.02179	-1.1200	10	0.14656	T	0.56	.	17.9941	0.89177	0.0:1.0:0.0:0.0	.	246;198;246;187;14	F5GXM2;Q7L4I2-2;Q7L4I2;E1B6W4;B3KMH4	.;.;RSRC2_HUMAN;.;.	S	246;198;246;187	ENSP00000330188:A246S;ENSP00000346678:A198S;ENSP00000343315:A187S	ENSP00000330188:A246S	A	-	1	0	RSRC2	121561678	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.920000	0.70017	2.656000	0.90262	0.591000	0.81541	GCA	RSRC2	-	NULL		0.299	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSRC2	HGNC	protein_coding	OTTHUMT00000395096.3	C	NM_023012		122995725	-1	no_errors	ENST00000331738	ensembl	human	known	70_37	missense	SNP	1.000	A
RYR2	6262	genome.wustl.edu	37	1	237729972	237729972	+	Missense_Mutation	SNP	C	C	T	rs200236750		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:237729972C>T	ENST00000366574.2	+	28	3637	c.3320C>T	c.(3319-3321)aCg>aTg	p.T1107M	RYR2_ENST00000542537.1_Missense_Mutation_p.T1091M|RYR2_ENST00000360064.6_Missense_Mutation_p.T1105M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1107	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.T1105M(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAATTTGAGACGGTCACTGCT	0.552																																																	1	Substitution - Missense(1)	large_intestine(1)						C	MET/THR	0,4016		0,0,2008	177.0	177.0	177.0		3320	5.4	1.0	1		177	5,8333		0,5,4164	yes	missense	RYR2	NM_001035.2	81	0,5,6172	TT,TC,CC		0.06,0.0,0.0405	possibly-damaging	1107/4968	237729972	5,12349	2008	4169	6177	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3320C>T	1.37:g.237729972C>T	ENSP00000355533:p.Thr1107Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.T1105M	ENST00000366574.2	37	c.3314	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189986	0.58017	0.0	6.0E-4	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.68624	-0.34;-0.34;-0.34	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.283792	0.27764	N	0.017960	T	0.61986	0.2391	L	0.47716	1.5	0.80722	D	1	P	0.37038	0.579	B	0.32533	0.147	T	0.66468	-0.5916	10	0.62326	D	0.03	.	19.1954	0.93686	0.0:1.0:0.0:0.0	.	1107	Q92736	RYR2_HUMAN	M	1107;1105;1091	ENSP00000355533:T1107M;ENSP00000353174:T1105M;ENSP00000443798:T1091M	ENSP00000353174:T1105M	T	+	2	0	RYR2	235796595	0.866000	0.29940	0.997000	0.53966	0.941000	0.58515	1.727000	0.38095	2.536000	0.85505	0.655000	0.94253	ACG	RYR2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.552	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237729972	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	T
SCARF1	8578	genome.wustl.edu	37	17	1538767	1538767	+	Missense_Mutation	SNP	G	G	A	rs371673485		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr17:1538767G>A	ENST00000263071.4	-	11	1827	c.1778C>T	c.(1777-1779)gCg>gTg	p.A593V	SCARF1_ENST00000348987.3_Missense_Mutation_p.A507V|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	593	Pro/Ser-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGTACCTTCCGCGAAGGAGAC	0.682																																																	0								G	VAL/ALA,,VAL/ALA	0,4406		0,0,2203	62.0	65.0	64.0		1778,,1520	5.2	1.0	17		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3,missense	SCARF1	NM_003693.2,NM_145350.1,NM_145352.2	64,,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,,probably-damaging	593/831,,507/745	1538767	1,13005	2203	4300	6503	SO:0001583	missense	8578			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1778C>T	17.37:g.1538767G>A	ENSP00000263071:p.Ala593Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom	p.A593V	ENST00000263071.4	37	c.1778	CCDS11007.1	17	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132343	0.77662	0.0	1.16E-4	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.38401	1.14;1.14	5.21	5.21	0.72293	.	0.000000	0.43110	D	0.000619	T	0.61825	0.2378	M	0.71581	2.175	0.49389	D	0.999789	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.65368	-0.6185	10	0.72032	D	0.01	-11.6789	18.7945	0.91988	0.0:0.0:1.0:0.0	.	507;593	Q14162-2;Q14162	.;SREC_HUMAN	V	593;507	ENSP00000263071:A593V;ENSP00000323964:A507V	ENSP00000263071:A593V	A	-	2	0	SCARF1	1485517	1.000000	0.71417	0.979000	0.43373	0.113000	0.19764	9.112000	0.94314	2.428000	0.82296	0.555000	0.69702	GCG	SCARF1	-	NULL		0.682	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCARF1	HGNC	protein_coding	OTTHUMT00000207081.4	G	NM_003693		1538767	-1	no_errors	ENST00000263071	ensembl	human	known	70_37	missense	SNP	1.000	A
SDCBP	6386	genome.wustl.edu	37	8	59484844	59484844	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr8:59484844G>T	ENST00000260130.4	+	4	361	c.211G>T	c.(211-213)Gcc>Tcc	p.A71S	SDCBP_ENST00000520168.1_Missense_Mutation_p.A71S|SDCBP_ENST00000422546.2_Missense_Mutation_p.A71S|SDCBP_ENST00000447267.2_Missense_Mutation_p.A71S|SDCBP_ENST00000522243.1_3'UTR|SDCBP_ENST00000523483.1_Missense_Mutation_p.A92S|SDCBP_ENST00000424270.2_Missense_Mutation_p.A65S|SDCBP_ENST00000413219.2_Missense_Mutation_p.A71S|SDCBP_ENST00000447182.2_Missense_Mutation_p.A71S	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	71					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGCAAATGTGGCCGTGGTTTC	0.348																																																	0													136.0	147.0	143.0					8																	59484844		2203	4300	6503	SO:0001583	missense	6386			AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.211G>T	8.37:g.59484844G>T	ENSP00000260130:p.Ala71Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A71S	ENST00000260130.4	37	c.211	CCDS6172.1	8	.	.	.	.	.	.	.	.	.	.	G	2.464	-0.323542	0.05350	.	.	ENSG00000137575	ENST00000260130;ENST00000422546;ENST00000447182;ENST00000413219;ENST00000424270;ENST00000523483;ENST00000520168;ENST00000447267	T;T;T;T;T;T;T;T	0.12361	2.71;2.72;2.72;2.71;2.77;2.7;2.69;2.7	5.21	3.38	0.38709	.	0.380247	0.26776	N	0.022554	T	0.07999	0.0200	L	0.28344	0.845	0.23282	N	0.997986	B;B;B;B	0.17667	0.002;0.023;0.004;0.003	B;B;B;B	0.22880	0.014;0.042;0.019;0.008	T	0.33214	-0.9877	9	.	.	.	-0.9593	3.2567	0.06834	0.1453:0.261:0.4667:0.1271	.	71;92;65;71	B4DHN5;G5EA09;O00560-3;O00560	.;.;.;SDCB1_HUMAN	S	71;71;71;71;65;92;71;71	ENSP00000260130:A71S;ENSP00000391687:A71S;ENSP00000409288:A71S;ENSP00000411771:A71S;ENSP00000395351:A65S;ENSP00000428184:A92S;ENSP00000430730:A71S;ENSP00000397820:A71S	.	A	+	1	0	SDCBP	59647398	0.961000	0.32948	0.747000	0.31113	0.012000	0.07955	1.255000	0.32909	0.667000	0.31107	-0.136000	0.14681	GCC	SDCBP	-	NULL		0.348	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCBP	HGNC	protein_coding	OTTHUMT00000378193.1	G	NM_005625		59484844	+1	no_errors	ENST00000260130	ensembl	human	known	70_37	missense	SNP	0.888	T
SEC31B	25956	genome.wustl.edu	37	10	102247514	102247514	+	Silent	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr10:102247514G>T	ENST00000370345.3	-	26	3496	c.3399C>A	c.(3397-3399)gcC>gcA	p.A1133A		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1133					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCACACATCGGGCAACCTCAT	0.597																																																	0													42.0	40.0	41.0					10																	102247514		2203	4300	6503	SO:0001819	synonymous_variant	25956			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.3399C>A	10.37:g.102247514G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A1133	ENST00000370345.3	37	c.3399	CCDS7495.1	10																																																																																			SEC31B	-	NULL		0.597	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	HGNC	protein_coding	OTTHUMT00000051198.1	G	NM_015490		102247514	-1	no_errors	ENST00000370345	ensembl	human	known	70_37	silent	SNP	1.000	T
SGIP1	84251	genome.wustl.edu	37	1	67109411	67109412	+	Intron	DEL	TG	TG	-	rs373027734		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:67109411_67109412delTG	ENST00000371037.4	+	7	536				SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000468286.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1						endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TGGTGAGTGTTGTGTGTGTGTG	0.406																																																	0										22,2,614,3618		0,0,17,5,0,0,2,39,519,1546						-0.3	0.5		dbSNP_134	143	22,6,1104,7114		0,0,15,7,0,0,6,48,993,3054	no	intron	SGIP1	NM_032291.2		0,0,32,12,0,0,8,87,1512,4600	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		13.7279,14.9906,14.1577				44,8,1718,10732				SO:0001627	intron_variant	84251			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.459+9TG>-	1.37:g.67109421_67109422delTG		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	RNA	DEL	-	NULL	ENST00000371037.4	37	NULL	CCDS30744.1	1																																																																																			SGIP1	-	-		0.406	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	TG	NM_032291		67109412	+1	no_errors	ENST00000483060	ensembl	human	known	70_37	rna	DEL	0.058:0.051	-
SGPL1	8879	genome.wustl.edu	37	10	72614556	72614556	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr10:72614556C>A	ENST00000373202.3	+	5	553	c.353C>A	c.(352-354)tCc>tAc	p.S118Y		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	118					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						GCTTTACCCTCCCAGGGTCTG	0.418																																					Colon(151;1054 2458 6676 40971)												0													236.0	224.0	228.0					10																	72614556		2203	4300	6503	SO:0001583	missense	8879			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.353C>A	10.37:g.72614556C>A	ENSP00000362298:p.Ser118Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.S118Y	ENST00000373202.3	37	c.353	CCDS31216.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.19|17.19	3.325928|3.325928	0.60743|0.60743	.|.	.|.	ENSG00000166224|ENSG00000166224	ENST00000409118|ENST00000373202;ENST00000299297	.|T;T	.|0.45276	.|0.9;0.96	5.83|5.83	2.9|2.9	0.33743|0.33743	.|Pyridoxal phosphate-dependent transferase, major domain (1);	.|1.291520	.|0.04571	.|N	.|0.393212	T|T	0.41143|0.41143	0.1146|0.1146	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	.|B	.|0.30526	.|0.283	.|B	.|0.33392	.|0.163	T|T	0.40421|0.40421	-0.9564|-0.9564	5|10	.|0.72032	.|D	.|0.01	-2.3768|-2.3768	7.4128|7.4128	0.27027|0.27027	0.0:0.7127:0.1363:0.151|0.0:0.7127:0.1363:0.151	.|.	.|118	.|O95470	.|SGPL1_HUMAN	T|Y	32|118;101	.|ENSP00000362298:S118Y;ENSP00000299297:S101Y	.|ENSP00000299297:S101Y	P|S	+|+	1|2	0|0	SGPL1|SGPL1	72284562|72284562	0.010000|0.010000	0.17322|0.17322	0.439000|0.439000	0.26833|0.26833	0.765000|0.765000	0.43378|0.43378	2.340000|2.340000	0.43974|0.43974	0.825000|0.825000	0.34637|0.34637	0.491000|0.491000	0.48974|0.48974	CCC|TCC	SGPL1	-	superfamily_PyrdxlP-dep_Trfase_major_dom		0.418	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPL1	HGNC	protein_coding	OTTHUMT00000048533.1	C	NM_003901		72614556	+1	no_errors	ENST00000373202	ensembl	human	known	70_37	missense	SNP	0.354	A
SHC2	25759	genome.wustl.edu	37	19	434715	434715	+	Silent	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr19:434715G>T	ENST00000264554.6	-	8	1103	c.1104C>A	c.(1102-1104)ctC>ctA	p.L368L		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	368	CH1.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACCTGGTCGAGGGCCGTGA	0.657																																																	0													21.0	28.0	25.0					19																	434715		2003	4159	6162	SO:0001819	synonymous_variant	25759			AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1104C>A	19.37:g.434715G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O60230|Q9NPL5|Q9UCX4	Silent	SNP	pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2	p.L368	ENST00000264554.6	37	c.1104	CCDS45891.1	19																																																																																			SHC2	-	NULL		0.657	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC2	HGNC	protein_coding	OTTHUMT00000451840.3	G			434715	-1	no_errors	ENST00000264554	ensembl	human	known	70_37	silent	SNP	0.988	T
SLC7A11	23657	genome.wustl.edu	37	4	139153538	139153539	+	Splice_Site	INS	-	-	A	rs113451557|rs544180499|rs142339109	byFrequency	TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr4:139153538_139153539insA	ENST00000280612.5	-	3	684		c.e3-2			NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	GCTGCAGGGCTAAAAAAAAATG	0.351																																																	0																																										SO:0001630	splice_region_variant	23657			AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"""Solute carriers"""	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.405-2->T	4.37:g.139153547_139153547dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2U4	Splice_Site	INS	-	e3-2	ENST00000280612.5	37	c.405-3_405-2	CCDS3742.1	4																																																																																			SLC7A11	-	-		0.351	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A11	HGNC	protein_coding	OTTHUMT00000257251.2	-		Intron	139153539	-1	no_errors	ENST00000280612	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.006	A
STAMBPL1	57559	genome.wustl.edu	37	10	90673020	90673020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr10:90673020C>T	ENST00000371926.3	+	6	1541	c.583C>T	c.(583-585)Cga>Tga	p.R195*	STAMBPL1_ENST00000371922.1_Nonsense_Mutation_p.R29*|STAMBPL1_ENST00000371927.3_Nonsense_Mutation_p.R195*|STAMBPL1_ENST00000371924.1_Nonsense_Mutation_p.R195*	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	195						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		AGGTCAAATGCGAAGTCAGCA	0.488																																																	0													119.0	109.0	112.0					10																	90673020		2203	4300	6503	SO:0001587	stop_gained	57559			AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"""associated molecule with the SH3 domain of STAM (AMSH) like protein"", ""associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"""	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.583C>T	10.37:g.90673020C>T	ENSP00000360994:p.Arg195*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Nonsense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.R195*	ENST00000371926.3	37	c.583	CCDS7391.1	10	.	.	.	.	.	.	.	.	.	.	C	46	12.630000	0.99684	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924;ENST00000371922	.	.	.	5.97	5.02	0.67125	.	0.632453	0.13823	N	0.360237	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-0.133	11.6643	0.51364	0.1766:0.8234:0.0:0.0	.	.	.	.	X	195;195;195;29	.	ENSP00000360990:R29X	R	+	1	2	STAMBPL1	90663000	0.289000	0.24334	0.811000	0.32455	0.840000	0.47671	1.505000	0.35736	2.829000	0.97493	0.650000	0.86243	CGA	STAMBPL1	-	NULL		0.488	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAMBPL1	HGNC	protein_coding	OTTHUMT00000049283.1	C	NM_020799		90673020	+1	no_errors	ENST00000371927	ensembl	human	known	70_37	nonsense	SNP	0.765	T
SLK	9748	genome.wustl.edu	37	10	105763175	105763175	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr10:105763175G>T	ENST00000369755.3	+	9	2784	c.2239G>T	c.(2239-2241)Gat>Tat	p.D747Y	SLK_ENST00000335753.4_Missense_Mutation_p.D747Y	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	747					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAAGGAAAATGATAATGATTC	0.348																																					NSCLC(111;540 1651 1927 4474 17706)												0													51.0	55.0	54.0					10																	105763175		2182	4290	6472	SO:0001583	missense	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.2239G>T	10.37:g.105763175G>T	ENSP00000358770:p.Asp747Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	pfam_PKK,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_UVR_dom,pfscan_Prot_kinase_cat_dom	p.D747Y	ENST00000369755.3	37	c.2239	CCDS7553.1	10	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846218	0.71603	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.70749	-0.51;-0.51	5.41	5.41	0.78517	Protein kinase-like domain (1);	0.160002	0.56097	D	0.000038	D	0.84593	0.5506	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84909	0.0847	10	0.59425	D	0.04	.	19.3785	0.94521	0.0:0.0:1.0:0.0	.	747;747	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	Y	747	ENSP00000336824:D747Y;ENSP00000358770:D747Y	ENSP00000336824:D747Y	D	+	1	0	SLK	105753165	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	9.263000	0.95617	2.821000	0.97095	0.555000	0.69702	GAT	SLK	-	superfamily_Kinase-like_dom		0.348	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1	G	NM_014720		105763175	+1	no_errors	ENST00000369755	ensembl	human	known	70_37	missense	SNP	1.000	T
STX11	8676	genome.wustl.edu	37	6	144508077	144508077	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr6:144508077C>T	ENST00000367568.4	+	2	496	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	105					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CTGCAAGCTGCGCGCCATGAA	0.677									Familial Hemophagocytic Lymphohistiocytosis																																								0													20.0	21.0	20.0					6																	144508077		2203	4299	6502	SO:0001583	missense	8676	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.313C>T	6.37:g.144508077C>T	ENSP00000356540:p.Arg105Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.R105C	ENST00000367568.4	37	c.313	CCDS5205.1	6	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471628	0.43942	.	.	ENSG00000135604	ENST00000367568	T	0.18502	2.21	5.99	1.19	0.21007	t-SNARE (1);Syntaxin, N-terminal (2);	0.369447	0.30732	N	0.008983	T	0.04182	0.0116	L	0.29908	0.895	0.35769	D	0.820759	B	0.24426	0.103	B	0.21546	0.035	T	0.26155	-1.0111	10	0.56958	D	0.05	-2.5987	6.768	0.23579	0.108:0.7201:0.0973:0.0746	.	105	O75558	STX11_HUMAN	C	105	ENSP00000356540:R105C	ENSP00000356540:R105C	R	+	1	0	STX11	144549770	0.995000	0.38212	0.093000	0.20910	0.986000	0.74619	2.189000	0.42621	-0.072000	0.12864	0.655000	0.94253	CGC	STX11	-	pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N		0.677	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX11	HGNC	protein_coding	OTTHUMT00000042544.1	C			144508077	+1	no_errors	ENST00000367568	ensembl	human	known	70_37	missense	SNP	0.654	T
TAS2R60	338398	genome.wustl.edu	37	7	143141000	143141000	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr7:143141000C>A	ENST00000332690.1	+	1	455	c.455C>A	c.(454-456)tCc>tAc	p.S152Y	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	152					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GTAGGGCTCTCCAGCTTCACC	0.453																																																	0													154.0	150.0	151.0					7																	143141000		2203	4300	6503	SO:0001583	missense	338398			AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.455C>A	7.37:g.143141000C>A	ENSP00000327724:p.Ser152Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.S152Y	ENST00000332690.1	37	c.455	CCDS5885.1	7	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577476	0.65878	.	.	ENSG00000185899	ENST00000332690	T	0.45668	0.89	5.62	0.446	0.16602	.	0.368790	0.22578	U	0.058247	T	0.56187	0.1968	M	0.80616	2.505	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45011	-0.9290	10	0.72032	D	0.01	.	1.9687	0.03401	0.141:0.4764:0.1373:0.2452	.	152	P59551	T2R60_HUMAN	Y	152	ENSP00000327724:S152Y	ENSP00000327724:S152Y	S	+	2	0	TAS2R60	142851122	0.002000	0.14202	0.003000	0.11579	0.581000	0.36288	0.482000	0.22276	0.320000	0.23234	0.591000	0.81541	TCC	TAS2R60	-	pfam_TAS2_rcpt		0.453	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R60	HGNC	protein_coding	OTTHUMT00000337541.1	C			143141000	+1	no_errors	ENST00000332690	ensembl	human	known	70_37	missense	SNP	0.000	A
THBS4	7060	genome.wustl.edu	37	5	79372793	79372793	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr5:79372793G>T	ENST00000350881.2	+	16	2198	c.2008G>T	c.(2008-2010)Gat>Tat	p.D670Y	THBS4_ENST00000511733.1_Missense_Mutation_p.D579Y|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	670					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGATGACAATGATGGTATCCC	0.572																																																	0													191.0	187.0	189.0					5																	79372793		2203	4300	6503	SO:0001583	missense	7060				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2008G>T	5.37:g.79372793G>T	ENSP00000339730:p.Asp670Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R909|Q86TG2	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.D670Y	ENST00000350881.2	37	c.2008	CCDS4049.1	5	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933254	0.92458	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.99923	-8.01;-8.01	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.99947	0.9977	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96264	0.9193	10	0.87932	D	0	-25.16	19.3435	0.94355	0.0:0.0:1.0:0.0	.	670	P35443	TSP4_HUMAN	Y	670;579	ENSP00000339730:D670Y;ENSP00000422298:D579Y	ENSP00000339730:D670Y	D	+	1	0	THBS4	79408549	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.561000	0.98142	2.866000	0.98385	0.650000	0.86243	GAT	THBS4	-	NULL		0.572	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	HGNC	protein_coding	OTTHUMT00000226977.1	G			79372793	+1	no_errors	ENST00000350881	ensembl	human	known	70_37	missense	SNP	1.000	T
TIA1	7072	genome.wustl.edu	37	2	70456452	70456453	+	Splice_Site	INS	-	-	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr2:70456452_70456453insA	ENST00000433529.2	-	4	433		c.e4-2		TIA1_ENST00000415783.2_Splice_Site|TIA1_ENST00000282574.4_Splice_Site|TIA1_ENST00000416149.2_Splice_Site|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000445587.1_Splice_Site	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein						apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TTTGACTTCCTAAAAAAAAAAA	0.292																																																	0																																										SO:0001630	splice_region_variant	7072				CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.223-2->T	2.37:g.70456463_70456463dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53SS9	Splice_Site	INS	-	e4-2	ENST00000433529.2	37	c.223-3_223-2	CCDS1901.1	2																																																																																			TIA1	-	-		0.292	TIA1-001	KNOWN	basic|CCDS	protein_coding	TIA1	HGNC	protein_coding	OTTHUMT00000251842.2	-	NM_022037	Intron	70456453	-1	no_errors	ENST00000433529	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.990	A
TOP3B	8940	genome.wustl.edu	37	22	22324757	22324757	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr22:22324757C>T	ENST00000398793.2	-	6	840	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	TOP3B_ENST00000357179.5_Missense_Mutation_p.V136I|TOP3B_ENST00000413067.2_Intron	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	136	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TTGTTCATGACGGGCAGAACA	0.607																																																	0													67.0	57.0	60.0					22																	22324757		2203	4300	6503	SO:0001583	missense	8940			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.406G>A	22.37:g.22324757C>T	ENSP00000381773:p.Val136Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A0M8Q3|Q9BUP5	Missense_Mutation	SNP	pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.V136I	ENST00000398793.2	37	c.406	CCDS13797.1	22	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229377	0.39399	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000424393	T;T;T	0.22743	1.94;1.94;1.94	4.87	3.85	0.44370	DNA topoisomerase, type IA, core domain (1);Toprim domain (2);	0.129763	0.52532	N	0.000074	T	0.22627	0.0546	M	0.74467	2.265	0.80722	D	1	B	0.19200	0.034	B	0.16289	0.015	T	0.04767	-1.0928	10	0.16420	T	0.52	.	10.6385	0.45579	0.0:0.845:0.0:0.155	.	136	O95985	TOP3B_HUMAN	I	136	ENSP00000349705:V136I;ENSP00000381773:V136I;ENSP00000390977:V136I	ENSP00000349705:V136I	V	-	1	0	TOP3B	20654757	1.000000	0.71417	0.900000	0.35374	0.684000	0.39900	4.799000	0.62517	1.290000	0.44636	0.561000	0.74099	GTC	TOP3B	-	pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain		0.607	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOP3B	HGNC	protein_coding	OTTHUMT00000320251.1	C	NM_003935		22324757	-1	no_errors	ENST00000357179	ensembl	human	known	70_37	missense	SNP	0.997	T
TRPM5	29850	genome.wustl.edu	37	11	2436530	2436530	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr11:2436530G>A	ENST00000155858.6	-	9	1308	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	TRPM5_ENST00000528453.1_Missense_Mutation_p.R434W|TRPM5_ENST00000533060.1_Missense_Mutation_p.R434W|TRPM5_ENST00000452833.1_Missense_Mutation_p.R436W	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCCTGCTTCCGCTGCAGCAGG	0.711																																					NSCLC(1;49 61 17205 18850 43201)												0													8.0	9.0	9.0					11																	2436530		2172	4261	6433	SO:0001583	missense	29850			AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1300C>T	11.37:g.2436530G>A	ENSP00000155858:p.Arg434Trp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.R436W	ENST00000155858.6	37	c.1306	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812984	0.70912	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	3.17	2.13	0.27403	.	0.571174	0.16728	N	0.201975	T	0.48572	0.1507	L	0.61218	1.895	0.32884	D	0.510938	D;D;D	0.76494	0.999;0.999;0.998	P;P;P	0.61397	0.857;0.857;0.888	T	0.60244	-0.7301	10	0.87932	D	0	-8.809	8.0378	0.30504	0.0:0.0:0.5487:0.4513	.	434;436;434	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	W	428;434;436;434;434;434	ENSP00000434383:R428W;ENSP00000155858:R434W;ENSP00000387965:R436W;ENSP00000434121:R434W;ENSP00000436809:R434W	ENSP00000155858:R434W	R	-	1	2	TRPM5	2393106	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.284000	0.51708	1.810000	0.52873	0.485000	0.47835	CGG	TRPM5	-	NULL		0.711	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	HGNC	protein_coding	OTTHUMT00000027378.1	G	NM_014555		2436530	-1	no_errors	ENST00000452833	ensembl	human	known	70_37	missense	SNP	1.000	A
TTLL4	9654	genome.wustl.edu	37	2	219603344	219603344	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr2:219603344G>T	ENST00000392102.1	+	3	1285	c.945G>T	c.(943-945)gaG>gaT	p.E315D	TTLL4_ENST00000457313.1_Missense_Mutation_p.E150D|TTLL4_ENST00000258398.4_Missense_Mutation_p.E315D|TTLL4_ENST00000442769.1_Missense_Mutation_p.E315D	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	315					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TGAGGGCAGAGCCACTTTCCT	0.532																																					GBM(172;1818 2053 15407 20943 49753)												0													114.0	108.0	110.0					2																	219603344		2203	4300	6503	SO:0001583	missense	9654				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.945G>T	2.37:g.219603344G>T	ENSP00000375951:p.Glu315Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6V5|Q8WW29	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.E315D	ENST00000392102.1	37	c.945	CCDS2422.1	2	.	.	.	.	.	.	.	.	.	.	G	8.506	0.865352	0.17250	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.04970	3.76;4.0;3.52;4.0	4.53	3.65	0.41850	.	0.289946	0.24815	N	0.035373	T	0.05593	0.0147	L	0.32530	0.975	0.09310	N	1	B;B;B	0.14805	0.001;0.011;0.011	B;B;B	0.10450	0.002;0.005;0.005	T	0.29212	-1.0019	10	0.62326	D	0.03	.	7.5026	0.27526	0.0921:0.1673:0.7405:0.0	.	150;315;315	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	D	150;315;315;315	ENSP00000393332:E150D;ENSP00000375951:E315D;ENSP00000396555:E315D;ENSP00000258398:E315D	ENSP00000258398:E315D	E	+	3	2	TTLL4	219311588	1.000000	0.71417	0.341000	0.25589	0.259000	0.26198	2.990000	0.49401	1.129000	0.42072	0.563000	0.77884	GAG	TTLL4	-	NULL		0.532	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL4	HGNC	protein_coding	OTTHUMT00000256726.1	G	NM_014640		219603344	+1	no_errors	ENST00000258398	ensembl	human	known	70_37	missense	SNP	0.351	T
TTLL9	164395	genome.wustl.edu	37	20	30467697	30467697	+	Intron	SNP	G	G	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr20:30467697G>A	ENST00000375938.4	+	3	322				TTLL9_ENST00000375934.4_Silent_p.P4P|TTLL9_ENST00000535842.1_Intron|TTLL9_ENST00000310998.4_Intron|TTLL9_ENST00000375922.4_5'UTR|TTLL9_ENST00000375921.2_Intron			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9						cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGTCGCGACCGAAGGTAGGAG	0.592																																																	0																																										SO:0001627	intron_variant	164395			AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.70-7302G>A	20.37:g.30467697G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Silent	SNP	pfam_Tub_tyr_ligase	p.P4	ENST00000375938.4	37	c.12	CCDS42863.1	20																																																																																			TTLL9	-	NULL		0.592	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL9	HGNC	protein_coding		G	NM_001008409		30467697	+1	no_errors	ENST00000375934	ensembl	human	known	70_37	silent	SNP	0.982	A
TUBGCP5	114791	genome.wustl.edu	37	15	22867457	22867457	+	Splice_Site	SNP	G	G	C			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr15:22867457G>C	ENST00000283645.4	+	19	2663		c.e19-1		TUBGCP5_ENST00000453949.2_Splice_Site	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ATGTTTTATAGAACTGGTTAG	0.453																																																	0													95.0	88.0	90.0					15																	22867457		2203	4300	6503	SO:0001630	splice_region_variant	114791			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.2534-1G>C	15.37:g.22867457G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PB12|Q6IQ52|Q96PY8	Splice_Site	SNP	-	e19-1	ENST00000283645.4	37	c.2534-1	CCDS10008.1	15	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513055	0.44660	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8338	0.92153	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TUBGCP5	20418898	1.000000	0.71417	0.863000	0.33907	0.480000	0.33159	6.831000	0.75324	2.752000	0.94435	0.655000	0.94253	.	TUBGCP5	-	-		0.453	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	HGNC	protein_coding	OTTHUMT00000250998.2	G	NM_052903	Intron	22867457	+1	no_errors	ENST00000283645	ensembl	human	known	70_37	splice_site	SNP	1.000	C
VCAN	1462	genome.wustl.edu	37	5	82833083	82833083	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr5:82833083C>T	ENST00000265077.3	+	8	4826	c.4261C>T	c.(4261-4263)Ccc>Tcc	p.P1421S	VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P434S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1421	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TACCACTGTGCCCAAGGACCC	0.463																																																	0													51.0	54.0	53.0					5																	82833083		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4261C>T	5.37:g.82833083C>T	ENSP00000265077:p.Pro1421Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.P1421S	ENST00000265077.3	37	c.4261	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.257386	0.95368	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.97791	-4.54;-2.98;2.06	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000009	D	0.98651	0.9548	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98824	1.0748	10	0.49607	T	0.09	.	20.2284	0.98346	0.0:1.0:0.0:0.0	.	434;1421	P13611-2;P13611	.;CSPG2_HUMAN	S	1421;434;434	ENSP00000265077:P1421S;ENSP00000340062:P434S;ENSP00000426251:P434S	ENSP00000265077:P1421S	P	+	1	0	VCAN	82868839	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.705000	0.54823	2.785000	0.95823	0.650000	0.86243	CCC	VCAN	-	NULL		0.463	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	C	NM_004385		82833083	+1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	1.000	T
VCL	7414	genome.wustl.edu	37	10	75857001	75857001	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr10:75857001G>T	ENST00000211998.4	+	13	1877	c.1783G>T	c.(1783-1785)Gtg>Ttg	p.V595L	VCL_ENST00000372755.3_Missense_Mutation_p.V595L|VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	595	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GACTCAGGAAGTGTCAGATGT	0.468																																																	0													148.0	138.0	141.0					10																	75857001		2203	4300	6503	SO:0001583	missense	7414			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1783G>T	10.37:g.75857001G>T	ENSP00000211998:p.Val595Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.V595L	ENST00000211998.4	37	c.1783	CCDS7341.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.499326	0.96355	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.53640	0.61;0.61;0.61	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.67998	0.2953	M	0.61703	1.905	0.80722	D	1	P;D;P	0.59357	0.855;0.985;0.92	P;D;D	0.71184	0.897;0.972;0.956	T	0.68827	-0.5306	10	0.72032	D	0.01	.	19.8192	0.96586	0.0:0.0:1.0:0.0	.	522;595;595	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	L	595;595;502;522;267	ENSP00000361841:V595L;ENSP00000211998:V595L;ENSP00000415489:V267L	ENSP00000211998:V595L	V	+	1	0	VCL	75527007	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.420000	0.97426	2.751000	0.94390	0.644000	0.83932	GTG	VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.468	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding		G	NM_003373, NM_014000		75857001	+1	no_errors	ENST00000211998	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR17	116966	genome.wustl.edu	37	4	177058704	177058704	+	Missense_Mutation	SNP	G	G	A	rs200199041		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr4:177058704G>A	ENST00000280190.4	+	10	1529	c.1373G>A	c.(1372-1374)cGa>cAa	p.R458Q	WDR17_ENST00000508596.1_Missense_Mutation_p.R434Q|WDR17_ENST00000393643.2_Missense_Mutation_p.R434Q|WDR17_ENST00000507824.2_Missense_Mutation_p.R441Q			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	458										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGAACTTCCCGAAATGGTGCT	0.279																																																	0								G	GLN/ARG,GLN/ARG	0,4404		0,0,2202	76.0	80.0	79.0		1301,1373	2.2	1.0	4		79	1,8593	1.2+/-3.3	0,1,4296	yes	missense,missense	WDR17	NM_181265.3,NM_170710.4	43,43	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	434/1284,458/1323	177058704	1,12997	2202	4297	6499	SO:0001583	missense	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1373G>A	4.37:g.177058704G>A	ENSP00000280190:p.Arg458Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R458Q	ENST00000280190.4	37	c.1373	CCDS3825.1	4	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448909	0.43531	0.0	1.16E-4	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.04758	3.57;3.56;3.57	5.08	2.22	0.28083	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.216830	0.36268	N	0.002682	T	0.03434	0.0099	N	0.24115	0.695	0.39331	D	0.96541	B;B	0.20368	0.011;0.044	B;B	0.12156	0.007;0.007	T	0.49679	-0.8914	10	0.32370	T	0.25	-3.5877	8.1747	0.31275	0.3317:0.0:0.6683:0.0	.	434;458	E7EQX0;Q8IZU2	.;WDR17_HUMAN	Q	434;434;458;441	ENSP00000422763:R434Q;ENSP00000377258:R434Q;ENSP00000280190:R458Q	ENSP00000280190:R458Q	R	+	2	0	WDR17	177295698	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	1.545000	0.36169	0.193000	0.20303	-0.140000	0.14226	CGA	WDR17	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.279	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	G			177058704	+1	no_errors	ENST00000280190	ensembl	human	known	70_37	missense	SNP	1.000	A
VEGFC	7424	genome.wustl.edu	37	4	177648970	177648970	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr4:177648970G>T	ENST00000280193.2	-	3	929	c.514C>A	c.(514-516)Cag>Aag	p.Q172K	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	172					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTCATGCACTGCAGCCCCTCA	0.527																																																	0													112.0	115.0	114.0					4																	177648970		2021	4187	6208	SO:0001583	missense	7424			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.514C>A	4.37:g.177648970G>T	ENSP00000280193:p.Gln172Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9Q8	Missense_Mutation	SNP	pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor	p.Q172K	ENST00000280193.2	37	c.514	CCDS43285.1	4	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526996	0.85706	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.72	5.72	0.89469	Platelet-derived growth factor (PDGF) (3);	0.056068	0.64402	D	0.000001	T	0.61527	0.2354	L	0.52266	1.64	0.80722	D	1	D	0.60160	0.987	P	0.48840	0.592	T	0.55302	-0.8162	9	0.25751	T	0.34	-8.1246	20.2406	0.98372	0.0:0.0:1.0:0.0	.	172	P49767	VEGFC_HUMAN	K	172	.	ENSP00000280193:Q172K	Q	-	1	0	VEGFC	177885964	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	9.420000	0.97426	2.857000	0.98124	0.650000	0.86243	CAG	VEGFC	-	pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor		0.527	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	HGNC	protein_coding	OTTHUMT00000361991.1	G	NM_005429		177648970	-1	no_errors	ENST00000280193	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR70	55100	genome.wustl.edu	37	5	37392223	37392223	+	Splice_Site	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr5:37392223G>T	ENST00000265107.4	+	4	452		c.e4+1		WDR70_ENST00000504564.1_Splice_Site	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70								enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATCTTCCAGGTGCCTGATTT	0.318																																																	0													132.0	137.0	135.0					5																	37392223		2203	4300	6503	SO:0001630	splice_region_variant	55100			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.296+1G>T	5.37:g.37392223G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H053	Splice_Site	SNP	-	e4+1	ENST00000265107.4	37	c.296+1	CCDS34147.1	5	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332404	0.60853	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0276	0.53380	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR70	37427980	1.000000	0.71417	0.993000	0.49108	0.962000	0.63368	4.244000	0.58728	2.286000	0.76751	0.563000	0.77884	.	WDR70	-	-		0.318	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR70	HGNC	protein_coding	OTTHUMT00000368294.1	G	NM_018034	Intron	37392223	+1	no_errors	ENST00000265107	ensembl	human	known	70_37	splice_site	SNP	0.997	T
WNT16	51384	genome.wustl.edu	37	7	120979235	120979235	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr7:120979235C>A	ENST00000222462.2	+	4	1224	c.934C>A	c.(934-936)Cgt>Agt	p.R312S	WNT16_ENST00000361301.2_Missense_Mutation_p.R302S	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	312					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AGAATGCAACCGTACATCAGA	0.488																																																	0													131.0	113.0	119.0					7																	120979235		2203	4300	6503	SO:0001583	missense	51384			AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.934C>A	7.37:g.120979235C>A	ENSP00000222462:p.Arg312Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3G1|Q9Y5C0	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt	p.R312S	ENST00000222462.2	37	c.934	CCDS5781.1	7	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534437	0.85812	.	.	ENSG00000002745	ENST00000361301;ENST00000222462	T;T	0.75821	-0.97;-0.97	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.84009	0.5378	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.69479	0.933;0.964	T	0.83123	-0.0117	10	0.51188	T	0.08	.	20.0763	0.97746	0.0:1.0:0.0:0.0	.	312;302	Q9UBV4;E9PH60	WNT16_HUMAN;.	S	302;312	ENSP00000355065:R302S;ENSP00000222462:R312S	ENSP00000222462:R312S	R	+	1	0	WNT16	120766471	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.664000	0.61540	2.756000	0.94617	0.655000	0.94253	CGT	WNT16	-	pfam_Wnt,smart_Wnt		0.488	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT16	HGNC	protein_coding	OTTHUMT00000346843.1	C	NM_057168		120979235	+1	no_errors	ENST00000222462	ensembl	human	known	70_37	missense	SNP	1.000	A
YTHDC1	91746	genome.wustl.edu	37	4	69188587	69188587	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr4:69188587G>T	ENST00000344157.4	-	11	1816	c.1481C>A	c.(1480-1482)cCc>cAc	p.P494H	YTHDC1_ENST00000579690.1_Missense_Mutation_p.P494H|YTHDC1_ENST00000355665.3_Missense_Mutation_p.P476H	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	494					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ACTTTCATCGGGGGGAAACAG	0.418																																																	0													87.0	92.0	90.0					4																	69188587		2203	4300	6503	SO:0001583	missense	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1481C>A	4.37:g.69188587G>T	ENSP00000339245:p.Pro494His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.P494H	ENST00000344157.4	37	c.1481	CCDS33992.1	4	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399685	0.25291	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.23552	1.91;1.9	6.06	6.06	0.98353	.	0.310059	0.36338	N	0.002654	T	0.28300	0.0699	L	0.40543	1.245	0.38266	D	0.942011	B;B	0.18166	0.0;0.026	B;B	0.26864	0.006;0.074	T	0.05099	-1.0906	10	0.32370	T	0.25	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	476;494	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	H	494;476	ENSP00000339245:P494H;ENSP00000347888:P476H	ENSP00000339245:P494H	P	-	2	0	YTHDC1	68871182	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	5.704000	0.68347	2.880000	0.98712	0.650000	0.86243	CCC	YTHDC1	-	NULL		0.418	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	HGNC	protein_coding	OTTHUMT00000251437.1	G	NM_133370		69188587	-1	no_errors	ENST00000344157	ensembl	human	known	70_37	missense	SNP	0.994	T
ZBBX	79740	genome.wustl.edu	37	3	167068260	167068260	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr3:167068260G>T	ENST00000392766.2	-	9	816	c.476C>A	c.(475-477)gCt>gAt	p.A159D	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Missense_Mutation_p.A159D|ZBBX_ENST00000392764.1_Missense_Mutation_p.A130D|ZBBX_ENST00000455345.2_Missense_Mutation_p.A159D|ZBBX_ENST00000392767.2_Missense_Mutation_p.A159D	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	159						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GTGAACTTTAGCAAAGCATCC	0.299																																																	0													189.0	180.0	183.0					3																	167068260		1811	4072	5883	SO:0001583	missense	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.476C>A	3.37:g.167068260G>T	ENSP00000376519:p.Ala159Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	pfam_Znf_B-box	p.A159D	ENST00000392766.2	37	c.476	CCDS3199.2	3	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133571	0.77662	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764;ENST00000474464	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.35	5.71	5.71	0.89125	Zinc finger, B-box (1);	0.000000	0.31949	U	0.006807	T	0.60792	0.2296	L	0.50333	1.59	0.45867	D	0.998729	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61510	-0.7048	10	0.87932	D	0	-11.6741	17.3454	0.87308	0.0:0.0:1.0:0.0	.	159;159	A8MT70-2;A8MT70	.;ZBBX_HUMAN	D	159;159;159;159;130;159	ENSP00000376519:A159D;ENSP00000376520:A159D;ENSP00000390232:A159D;ENSP00000305065:A159D;ENSP00000376517:A130D;ENSP00000419307:A159D	ENSP00000305065:A159D	A	-	2	0	ZBBX	168550954	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	6.373000	0.73128	2.685000	0.91497	0.585000	0.79938	GCT	ZBBX	-	pfam_Znf_B-box		0.299	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	G	NM_024687		167068260	-1	no_errors	ENST00000307529	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF252P	286101	genome.wustl.edu	37	8	146202714	146202714	+	RNA	SNP	T	T	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr8:146202714T>A	ENST00000426361.2	-	0	1470					NR_023392.1				zinc finger protein 252, pseudogene											endometrium(1)	1						GAATAACTTGTGAGCATTGAC	0.403																																																	0																																												286101			BC019922		8q24.3	2012-10-05	2012-04-19	2012-04-19	ENSG00000196922	ENSG00000196922			13046	pseudogene	pseudogene			"""zinc finger protein 252"""	ZNF252			Standard	NR_023392		Approved		uc011llo.2		OTTHUMG00000165201		8.37:g.146202714T>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000426361.2	37	NULL		8																																																																																			ZNF252P	-	-		0.403	ZNF252P-008	KNOWN	basic|exp_conf	processed_transcript	ZNF252P	HGNC	pseudogene	OTTHUMT00000451422.1	T	NR_023392		146202714	-1	no_errors	ENST00000426361	ensembl	human	known	70_37	rna	SNP	0.077	A
ZP2	7783	genome.wustl.edu	37	16	21210183	21210183	+	Splice_Site	SNP	G	G	A			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr16:21210183G>A	ENST00000574002.1	-	18	2410	c.1928C>T	c.(1927-1929)gCc>gTc	p.A643V	ZP2_ENST00000574091.1_Splice_Site_p.A634V|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Splice_Site_p.A643V			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	643					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GGCCCCTGTGGCTGGAGACAG	0.483																																																	0													99.0	88.0	91.0					16																	21210183		2200	4300	6500	SO:0001630	splice_region_variant	7783			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1928-1C>T	16.37:g.21210183G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.A643V	ENST00000574002.1	37	c.1928	CCDS10596.1	16	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457873	0.63401	.	.	ENSG00000103310	ENST00000219593	T	0.77750	-1.12	4.2	3.23	0.37069	.	0.542144	0.17570	N	0.169493	T	0.75466	0.3853	L	0.57536	1.79	0.21740	N	0.999568	P;P	0.41910	0.764;0.764	P;P	0.45794	0.493;0.493	T	0.64132	-0.6479	10	0.30854	T	0.27	.	9.5024	0.39026	0.0:0.0:0.7893:0.2107	.	634;643	Q4VAP1;Q05996	.;ZP2_HUMAN	V	643	ENSP00000219593:A643V	ENSP00000219593:A643V	A	-	2	0	ZP2	21117684	0.036000	0.19791	0.648000	0.29521	0.502000	0.33828	1.483000	0.35497	1.344000	0.45657	0.637000	0.83480	GCC	ZP2	-	NULL		0.483	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZP2	HGNC	protein_coding	OTTHUMT00000207365.2	G		Missense_Mutation	21210183	-1	no_errors	ENST00000219593	ensembl	human	known	70_37	missense	SNP	0.695	A
