#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCC4	10257	genome.wustl.edu	37	13	95735503	95735503	+	Silent	SNP	G	G	A	rs11568691		TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr13:95735503G>A	ENST00000376887.4	-	21	2691	c.2577C>T	c.(2575-2577)gcC>gcT	p.A859A	ABCC4_ENST00000412704.1_Silent_p.A812A	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	859	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	AAGGAATCACGGCCACAGCCA	0.423																																																	0													91.0	84.0	86.0					13																	95735503		2203	4300	6503	SO:0001819	synonymous_variant	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2577C>T	13.37:g.95735503G>A			A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	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,prints_CysFib_conduc_TM	p.A859	ENST00000376887.4	37	c.2577	CCDS9474.1	13																																																																																			ABCC4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.423	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	G	NM_005845		95735503	-1	no_errors	ENST00000376887	ensembl	human	known	70_37	silent	SNP	0.000	A
ABCF2	10061	genome.wustl.edu	37	7	150915945	150915945	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr7:150915945C>A	ENST00000287844.2	-	9	1141	c.1032G>T	c.(1030-1032)agG>agT	p.R344S	ABCF2_ENST00000473874.1_5'UTR|ABCF2_ENST00000222388.2_Missense_Mutation_p.R344S	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	344					transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATGACCAAACCTCGCAATGT	0.493																																																	0													98.0	93.0	94.0					7																	150915945		2203	4300	6503	SO:0001583	missense	10061			AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.1032G>T	7.37:g.150915945C>A	ENSP00000287844:p.Arg344Ser		O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R344S	ENST00000287844.2	37	c.1032	CCDS5923.1	7	.	.	.	.	.	.	.	.	.	.	C	10.75	1.439423	0.25900	.	.	ENSG00000033050	ENST00000222388;ENST00000287844	D;D	0.92647	-3.04;-3.08	5.22	0.815	0.18763	.	0.109289	0.64402	D	0.000005	D	0.93638	0.7968	M	0.86864	2.845	0.53005	D	0.999968	P;P	0.50369	0.934;0.934	P;P	0.55965	0.788;0.788	D	0.89982	0.4101	10	0.21014	T	0.42	-0.2017	7.8517	0.29459	0.0:0.5403:0.0:0.4597	.	344;344	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	S	344	ENSP00000222388:R344S;ENSP00000287844:R344S	ENSP00000222388:R344S	R	-	3	2	ABCF2	150546878	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.436000	0.21526	0.221000	0.20879	0.558000	0.71614	AGG	ABCF2	-	NULL		0.493	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF2	HGNC	protein_coding	OTTHUMT00000336086.1	C	NM_005692		150915945	-1	no_errors	ENST00000222388	ensembl	human	known	70_37	missense	SNP	0.992	A
ADCY9	115	genome.wustl.edu	37	16	4164414	4164414	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr16:4164414C>T	ENST00000294016.3	-	2	1568	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	344					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATTAAGTCATCGGCTATGATT	0.483																																																	0													164.0	155.0	158.0					16																	4164414		2197	4300	6497	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1030G>A	16.37:g.4164414C>T	ENSP00000294016:p.Asp344Asn		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D344N	ENST00000294016.3	37	c.1030	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886468	0.72410	.	.	ENSG00000162104	ENST00000294016	D	0.84370	-1.84	5.43	5.43	0.79202	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.86990	0.6066	L	0.45051	1.395	0.80722	D	1	D	0.64830	0.994	P	0.53313	0.723	D	0.86564	0.1843	10	0.44086	T	0.13	.	19.2808	0.94052	0.0:1.0:0.0:0.0	.	344	O60503	ADCY9_HUMAN	N	344	ENSP00000294016:D344N	ENSP00000294016:D344N	D	-	1	0	ADCY9	4104415	1.000000	0.71417	0.921000	0.36526	0.949000	0.60115	7.818000	0.86416	2.574000	0.86865	0.555000	0.69702	GAT	ADCY9	-	smart_A/G_cyclase		0.483	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	C			4164414	-1	no_errors	ENST00000294016	ensembl	human	known	70_37	missense	SNP	1.000	T
ADRB2	154	genome.wustl.edu	37	5	148206606	148206608	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	TCA	TCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr5:148206606_148206608delTCA	ENST00000305988.4	+	1	451_453	c.212_214delTCA	c.(211-216)ttcatc>ttc	p.I72del		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	72					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	ACCAACTACTTCATCACTTCACT	0.527																																																	0																																										SO:0001651	inframe_deletion	154			AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.212_214delTCA	5.37:g.148206609_148206611delTCA	ENSP00000305372:p.Ile72del		B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	In_Frame_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrgc_rcpt_B2,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.I72in_frame_del	ENST00000305988.4	37	c.212_214	CCDS4292.1	5																																																																																			ADRB2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRB2	HGNC	protein_coding	OTTHUMT00000252189.1	TCA	NM_000024		148206608	+1	no_errors	ENST00000305988	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-
AGBL3	340351	genome.wustl.edu	37	7	134766496	134766496	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr7:134766496delT	ENST00000436302.2	+	15	2317	c.2064delT	c.(2062-2064)gatfs	p.D688fs	AGBL3_ENST00000458078.1_Frame_Shift_Del_p.D662fs|AGBL3_ENST00000435976.2_Frame_Shift_Del_p.D688fs	NM_178563.3	NP_848658.3	Q8NEM8	CBPC3_HUMAN	ATP/GTP binding protein-like 3	688						cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|lung(2)|skin(3)	10						AACCAGATGATTATATGGTTG	0.333																																																	0													154.0	140.0	144.0					7																	134766496		692	1589	2281	SO:0001589	frameshift_variant	340351			BC030651	CCDS47718.1	7q33	2014-06-23			ENSG00000146856	ENSG00000146856			27981	protein-coding gene	gene with protein product							Standard	NM_178563		Approved	MGC32955, CCP3	uc011kpw.2	Q8NEM8	OTTHUMG00000155406	ENST00000436302.2:c.2064delT	7.37:g.134766496delT	ENSP00000388275:p.Asp688fs		B7Z827|Q9H965	Frame_Shift_Del	DEL	pfam_Peptidase_M14	p.Y663fs	ENST00000436302.2	37	c.1986	CCDS47718.1	7																																																																																			AGBL3	-	NULL		0.333	AGBL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL3	HGNC	protein_coding	OTTHUMT00000376655.1	T	NM_178563		134766496	+1	no_errors	ENST00000458078	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-
AHI1	54806	genome.wustl.edu	37	6	135787166	135787166	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr6:135787166C>G	ENST00000367800.4	-	5	751	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	AHI1_ENST00000457866.2_Missense_Mutation_p.E179Q|AHI1_ENST00000327035.6_Missense_Mutation_p.E179Q	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	179	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AAATCAGTCTCTTCTCTTCCC	0.393																																																	0													260.0	234.0	242.0					6																	135787166		1929	4119	6048	SO:0001583	missense	54806			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.535G>C	6.37:g.135787166C>G	ENSP00000356774:p.Glu179Gln		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain	p.E179Q	ENST00000367800.4	37	c.535	CCDS47483.1	6	.	.	.	.	.	.	.	.	.	.	C	4.060	0.008827	0.07912	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469	T;T;T;T;T	0.57436	0.4;0.4;0.4;1.47;0.93	5.76	1.75	0.24633	.	1.020860	0.07814	N	0.958672	T	0.10380	0.0254	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.18871	0.023;0.01	T	0.33675	-0.9859	10	0.15499	T	0.54	-1.8649	5.3908	0.16244	0.0:0.2168:0.2527:0.5304	.	179;179	Q8N157-2;Q8N157	.;AHI1_HUMAN	Q	179;179;179;179;179;161	ENSP00000356774:E179Q;ENSP00000388650:E179Q;ENSP00000265602:E179Q;ENSP00000322478:E179Q;ENSP00000433063:E161Q	ENSP00000265602:E179Q	E	-	1	0	AHI1	135828859	0.000000	0.05858	0.019000	0.16419	0.015000	0.08874	-0.018000	0.12568	0.154000	0.19237	-0.300000	0.09419	GAG	AHI1	-	NULL		0.393	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	AHI1	HGNC	protein_coding	OTTHUMT00000391948.1	C	NM_017651		135787166	-1	no_errors	ENST00000265602	ensembl	human	known	70_37	missense	SNP	0.000	G
APEX2	27301	genome.wustl.edu	37	X	55033705	55033705	+	Missense_Mutation	SNP	G	G	A	rs374342631		TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chrX:55033705G>A	ENST00000374987.3	+	6	1460	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	465					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GGGCCCTTGCGCACACCCCTC	0.602								Other BER factors																																									0								G	HIS/ARG	0,3835		0,0,0,1632,571	35.0	28.0	30.0		1394	2.9	0.0	X		30	1,6727		0,0,1,2428,1871	no	missense	APEX2	NM_014481.2	29	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	possibly-damaging	465/519	55033705	1,10562	2203	4300	6503	SO:0001583	missense	27301			AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.1394G>A	X.37:g.55033705G>A	ENSP00000364126:p.Arg465His		Q9Y5X7	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III	p.R465H	ENST00000374987.3	37	c.1394	CCDS14365.1	X	.	.	.	.	.	.	.	.	.	.	G	6.913	0.538009	0.13188	0.0	1.49E-4	ENSG00000169188	ENST00000374987	T	0.60672	0.17	4.67	2.9	0.33743	.	0.339412	0.34507	N	0.003919	T	0.38374	0.1038	N	0.14661	0.345	0.09310	N	1	P	0.50819	0.939	B	0.42522	0.39	T	0.21655	-1.0239	10	0.49607	T	0.09	-6.7797	9.2175	0.37355	0.1481:0.5602:0.2917:0.0	.	465	Q9UBZ4	APEX2_HUMAN	H	465	ENSP00000364126:R465H	ENSP00000364126:R465H	R	+	2	0	APEX2	55050430	0.016000	0.18221	0.000000	0.03702	0.136000	0.21042	1.224000	0.32539	0.484000	0.27630	-1.329000	0.01275	CGC	APEX2	-	NULL		0.602	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEX2	HGNC	protein_coding	OTTHUMT00000056845.1	G			55033705	+1	no_errors	ENST00000374987	ensembl	human	known	70_37	missense	SNP	0.071	A
AVPR1A	552	genome.wustl.edu	37	12	63544264	63544264	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr12:63544264C>T	ENST00000299178.2	-	1	458	c.353G>A	c.(352-354)cGc>cAc	p.R118H		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	118					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GTCGGGGCCGCGGAAGCGGTA	0.627																																																	0													19.0	24.0	23.0					12																	63544264		2203	4299	6502	SO:0001583	missense	552			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.353G>A	12.37:g.63544264C>T	ENSP00000299178:p.Arg118His			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.R118H	ENST00000299178.2	37	c.353	CCDS8965.1	12	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531709	0.27387	.	.	ENSG00000166148	ENST00000299178	T	0.37235	1.21	4.82	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.169429	0.53938	D	0.000048	T	0.22003	0.0530	N	0.21194	0.64	0.38142	D	0.938479	B	0.11235	0.004	B	0.13407	0.009	T	0.09122	-1.0689	9	.	.	.	-15.3492	8.8256	0.35052	0.0:0.8066:0.0:0.1934	.	118	P37288	V1AR_HUMAN	H	118	ENSP00000299178:R118H	.	R	-	2	0	AVPR1A	61830531	0.000000	0.05858	0.995000	0.50966	0.991000	0.79684	-0.139000	0.10358	1.022000	0.39626	0.455000	0.32223	CGC	AVPR1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt		0.627	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1A	HGNC	protein_coding	OTTHUMT00000406734.1	C			63544264	-1	no_errors	ENST00000299178	ensembl	human	known	70_37	missense	SNP	0.996	T
BCAR3	8412	genome.wustl.edu	37	1	94140433	94140433	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr1:94140433C>A	ENST00000370244.1	-	4	342	c.54G>T	c.(52-54)caG>caT	p.Q18H	BCAR3_ENST00000370243.1_Missense_Mutation_p.Q18H|BCAR3_ENST00000260502.6_Missense_Mutation_p.Q18H	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	18					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CCAGGGGGAACTGGTGATTCA	0.498																																																	0													64.0	65.0	65.0					1																	94140433		2203	4300	6503	SO:0001583	missense	8412			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.54G>T	1.37:g.94140433C>A	ENSP00000359264:p.Gln18His		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.Q18H	ENST00000370244.1	37	c.54	CCDS745.1	1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694055	0.68386	.	.	ENSG00000137936	ENST00000260502;ENST00000370244;ENST00000370243	T;T;T	0.22539	1.95;1.95;1.95	5.69	4.78	0.61160	.	0.088894	0.48767	D	0.000171	T	0.15046	0.0363	L	0.34521	1.04	0.80722	D	1	P	0.47409	0.895	P	0.51487	0.671	T	0.01639	-1.1306	10	0.72032	D	0.01	0.4466	11.6477	0.51271	0.0:0.8582:0.0:0.1418	.	18	O75815	BCAR3_HUMAN	H	18	ENSP00000260502:Q18H;ENSP00000359264:Q18H;ENSP00000359263:Q18H	ENSP00000260502:Q18H	Q	-	3	2	BCAR3	93913021	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.608000	0.46308	1.425000	0.47237	0.555000	0.69702	CAG	BCAR3	-	NULL		0.498	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	HGNC	protein_coding	OTTHUMT00000028420.1	C			94140433	-1	no_errors	ENST00000260502	ensembl	human	known	70_37	missense	SNP	1.000	A
BRWD3	254065	genome.wustl.edu	37	X	79942412	79942412	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chrX:79942412G>T	ENST00000373275.4	-	35	4171	c.3955C>A	c.(3955-3957)Cgt>Agt	p.R1319S	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1319	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GAGTCTTCACGTTCATAAATG	0.383																																																	0													166.0	145.0	152.0					X																	79942412		2203	4300	6503	SO:0001583	missense	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3955C>A	X.37:g.79942412G>T	ENSP00000362372:p.Arg1319Ser		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.R1319S	ENST00000373275.4	37	c.3955	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	G	6.951	0.545273	0.13312	.	.	ENSG00000165288	ENST00000373275	T	0.18810	2.19	4.53	4.53	0.55603	Bromodomain (4);	0.181713	0.46758	D	0.000263	T	0.13756	0.0333	N	0.26162	0.8	0.41941	D	0.990611	B	0.29341	0.242	B	0.19666	0.026	T	0.10590	-1.0623	9	.	.	.	-10.8165	13.1637	0.59558	0.0:0.0:0.8403:0.1597	.	1319	Q6RI45	BRWD3_HUMAN	S	1319	ENSP00000362372:R1319S	.	R	-	1	0	BRWD3	79829068	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.506000	0.60428	2.062000	0.61559	0.415000	0.27848	CGT	BRWD3	-	superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain		0.383	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	G	NM_153252		79942412	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	missense	SNP	0.994	T
C1orf43	25912	genome.wustl.edu	37	1	154179794	154179794	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr1:154179794C>G	ENST00000368521.5	-	0	1095				C1orf43_ENST00000368519.1_3'UTR|C1orf43_ENST00000362076.4_3'UTR|C1orf189_ENST00000368525.3_5'Flank|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000350592.3_3'UTR	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43							integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TCTAAGAACTCTGGATACAAC	0.498																																																	0																																										SO:0001624	3_prime_UTR_variant	25912			AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.*135G>C	1.37:g.154179794C>G			A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	RNA	SNP	-	NULL	ENST00000368521.5	37	NULL	CCDS41404.1	1																																																																																			C1orf43	-	-		0.498	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf43	HGNC	protein_coding	OTTHUMT00000087664.2	C	NM_015449		154179794	-1	no_errors	ENST00000483282	ensembl	human	known	70_37	rna	SNP	0.001	G
MROH8	140699	genome.wustl.edu	37	20	35740792	35740792	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr20:35740792C>G	ENST00000400441.3	-	21	2748	c.2749G>C	c.(2749-2751)Gaa>Caa	p.E917Q	MROH8_ENST00000217333.8_Missense_Mutation_p.E746Q|MROH8_ENST00000441008.2_Missense_Mutation_p.E903Q			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0								p.E917*(1)									GAGTACACTTCTTGGGGCAGC	0.418																																																	1	Substitution - Nonsense(1)	large_intestine(1)											110.0	101.0	104.0					20																	35740792		1889	4117	6006	SO:0001583	missense	140699			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2749G>C	20.37:g.35740792C>G	ENSP00000383291:p.Glu917Gln		Q5JYQ6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E917Q	ENST00000400441.3	37	c.2749		20	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	7.875|7.875|7.875	0.728884|0.728884|0.728884	0.15507|0.15507|0.15507	.|.|.	.|.|.	ENSG00000101353|ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000343811|ENST00000417458	T;T;T|.|.	0.65178|.|.	4.01;4.3;-0.14|.|.	5.57|5.57|5.57	3.49|3.49|3.49	0.39957|0.39957|0.39957	.|.|.	0.618437|.|.	0.16759|.|.	N|.|.	0.200709|.|.	T|T|T	0.41719|0.41719|0.41719	0.1171|0.1171|0.1171	L|L|L	0.42245|0.42245|0.42245	1.32|1.32|1.32	0.24846|0.24846|0.24846	N|N|N	0.992434|0.992434|0.992434	B;B|.|.	0.21071|.|.	0.051;0.035|.|.	B;B|.|.	0.18561|.|.	0.022;0.019|.|.	T|T|T	0.25779|0.25779|0.25779	-1.0122|-1.0122|-1.0122	10|5|5	0.20519|.|.	T|.|.	0.43|.|.	0.0564|0.0564|0.0564	11.7616|11.7616|11.7616	0.51908|0.51908|0.51908	0.0:0.6566:0.3434:0.0|0.0:0.6566:0.3434:0.0|0.0:0.6566:0.3434:0.0	.|.|.	917;751|.|.	E7ETR9;Q9H579-2|.|.	.;.|.|.	Q|N|T	903;917;746|943|544	ENSP00000392144:E903Q;ENSP00000383291:E917Q;ENSP00000217333:E746Q|.|.	ENSP00000217333:E746Q|.|.	E|K|R	-|-|-	1|3|2	0|2|0	C20orf132|C20orf132|C20orf132	35174206|35174206|35174206	0.907000|0.907000|0.907000	0.30839|0.30839|0.30839	0.904000|0.904000|0.904000	0.35570|0.35570|0.35570	0.786000|0.786000|0.786000	0.44442|0.44442|0.44442	0.782000|0.782000|0.782000	0.26788|0.26788|0.26788	1.311000|1.311000|1.311000	0.45024|0.45024|0.45024	0.511000|0.511000|0.511000	0.50034|0.50034|0.50034	GAA|AAG|AGA	C20orf132	-	superfamily_ARM-type_fold		0.418	MROH8-202	KNOWN	basic|appris_principal	protein_coding	C20orf132	HGNC	protein_coding		C	NM_152503		35740792	-1	no_errors	ENST00000400441	ensembl	human	known	70_37	missense	SNP	0.868	G
CCDC38	120935	genome.wustl.edu	37	12	96275265	96275265	+	Missense_Mutation	SNP	A	A	T			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr12:96275265A>T	ENST00000344280.3	-	11	1545	c.988T>A	c.(988-990)Ttg>Atg	p.L330M	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	330										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGGTTACCAAATCAACGTCC	0.279																																																	0													72.0	70.0	71.0					12																	96275265		2203	4300	6503	SO:0001583	missense	120935			AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.988T>A	12.37:g.96275265A>T	ENSP00000345470:p.Leu330Met		Q8N835	Missense_Mutation	SNP	NULL	p.L330M	ENST00000344280.3	37	c.988	CCDS9056.1	12	.	.	.	.	.	.	.	.	.	.	A	4.687	0.127775	0.08981	.	.	ENSG00000165972	ENST00000344280	T	0.42131	0.98	5.15	-0.121	0.13535	.	0.471606	0.21314	N	0.076596	T	0.28499	0.0705	L	0.55990	1.75	0.39462	D	0.967575	B	0.29988	0.264	B	0.23150	0.044	T	0.09400	-1.0676	10	0.48119	T	0.1	-6.3547	2.9236	0.05777	0.2844:0.0:0.3841:0.3315	.	330	Q502W7	CCD38_HUMAN	M	330	ENSP00000345470:L330M	ENSP00000345470:L330M	L	-	1	2	CCDC38	94799396	0.024000	0.19004	0.359000	0.25824	0.012000	0.07955	-0.124000	0.10595	0.308000	0.22923	-0.462000	0.05337	TTG	CCDC38	-	NULL		0.279	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC38	HGNC	protein_coding	OTTHUMT00000408634.1	A	NM_182496		96275265	-1	no_errors	ENST00000344280	ensembl	human	known	70_37	missense	SNP	0.075	T
CELF5	60680	genome.wustl.edu	37	19	3290270	3290270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr19:3290270G>T	ENST00000292672.2	+	11	1265	c.1228G>T	c.(1228-1230)Gag>Tag	p.E410*	CELF5_ENST00000541430.2_Splice_Site_p.G371V	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	410	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CCTCCCCCAGGAGTTTGGAGA	0.552																																																	0													93.0	82.0	86.0					19																	3290270		2203	4300	6503	SO:0001587	stop_gained	60680			AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"""RNA binding motif (RRM) containing"""	14058	protein-coding gene	gene with protein product		612680	"""Bruno (Drosophila) -like 5, RNA binding protein"", ""bruno-like 5, RNA binding protein (Drosophila)"""	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.1228G>T	19.37:g.3290270G>T	ENSP00000292672:p.Glu410*		D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E410*	ENST00000292672.2	37	c.1228	CCDS12106.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.391412|6.391412	0.97529|0.97529	.|.	.|.	ENSG00000161082|ENSG00000161082	ENST00000292672|ENST00000541430;ENST00000334293	.|T;T	.|0.50277	.|1.08;0.75	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.70064	.|0.3181	M|M	0.81942|0.81942	2.565|2.565	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.87578	.|0.994;0.998	.|T	.|0.76181	.|-0.3053	.|9	0.87932|0.87932	D|D	0|0	-18.2573|-18.2573	15.7848|15.7848	0.78294|0.78294	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|282;371	.|B4DFI3;Q8N6W0-2	.|.;.	X|V	410|371;282	.|ENSP00000443498:G371V;ENSP00000335182:G282V	ENSP00000292672:E410X|ENSP00000335182:G282V	E|G	+|+	1|2	0|0	CELF5|CELF5	3241270|3241270	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.782000|9.782000	0.99034|0.99034	2.130000|2.130000	0.65690|0.65690	0.542000|0.542000	0.68232|0.68232	GAG|GGA	CELF5	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.552	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELF5	HGNC	protein_coding	OTTHUMT00000452574.1	G	NM_021938		3290270	+1	no_errors	ENST00000292672	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CSHL1	1444	genome.wustl.edu	37	17	61987643	61987643	+	Missense_Mutation	SNP	C	C	T	rs144051040		TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr17:61987643C>T	ENST00000309894.5	-	4	349	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	CSHL1_ENST00000259003.10_Missense_Mutation_p.R55Q|CSHL1_ENST00000450719.3_Missense_Mutation_p.R23Q|CSHL1_ENST00000561003.1_Missense_Mutation_p.R34Q|CSHL1_ENST00000438387.2_Missense_Mutation_p.R34Q|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Missense_Mutation_p.R23Q|CSHL1_ENST00000392824.4_3'UTR	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	117						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						GGGCTCCAGCCGCGACTCGAT	0.597																																																	0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	51.0	49.0	50.0		68,350,101,281	3.1	1.0	17	dbSNP_134	50	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	CSHL1	NM_001318.2,NM_022579.1,NM_022580.1,NM_022581.1	43,43,43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	23/129,117/223,34/140,94/200	61987643	2,13004	2203	4300	6503	SO:0001583	missense	1444			BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.350G>A	17.37:g.61987643C>T	ENSP00000309524:p.Arg117Gln		D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.R117Q	ENST00000309894.5	37	c.350	CCDS11652.1	17	.	.	.	.	.	.	.	.	.	.	c	11.95	1.791642	0.31685	0.0	2.33E-4	ENSG00000204414	ENST00000309894;ENST00000438387;ENST00000259003;ENST00000346606;ENST00000450719	D;D;D	0.90324	-2.65;-2.65;-2.65	3.07	3.07	0.35406	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	N	0.08118	0	0.80722	D	1	B;P;P;P	0.44986	0.334;0.847;0.694;0.645	B;B;B;B	0.33339	0.101;0.101;0.162;0.146	T	0.81897	-0.0722	10	0.87932	D	0	.	11.9356	0.52872	0.0:1.0:0.0:0.0	.	23;34;117;94	Q14406-4;Q14406-3;Q14406;Q14406-2	.;.;CSHL_HUMAN;.	Q	117;34;112;23;112	ENSP00000309524:R117Q;ENSP00000402632:R34Q;ENSP00000316360:R23Q	ENSP00000259003:R112Q	R	-	2	0	GH1	59341375	1.000000	0.71417	0.997000	0.53966	0.005000	0.04900	4.931000	0.63469	1.730000	0.51580	0.305000	0.20034	CGG	CSHL1	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin		0.597	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	CSHL1	HGNC	protein_coding	OTTHUMT00000444557.1	C	NM_022579		61987643	-1	no_errors	ENST00000309894	ensembl	human	known	70_37	missense	SNP	1.000	T
DIP2C	22982	genome.wustl.edu	37	10	486841	486841	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr10:486841G>A	ENST00000280886.6	-	4	451	c.364C>T	c.(364-366)Cag>Tag	p.Q122*	DIP2C_ENST00000381496.3_Nonsense_Mutation_p.Q15*|RP11-490E15.2_ENST00000425723.2_RNA	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	122						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATCGAGGTCTGCACGACCAGG	0.607																																																	0													137.0	103.0	115.0					10																	486841		2203	4300	6503	SO:0001587	stop_gained	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.364C>T	10.37:g.486841G>A	ENSP00000280886:p.Gln122*		B4DPI5|Q5SS78	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.Q122*	ENST00000280886.6	37	c.364	CCDS7054.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.550672	0.98352	.	.	ENSG00000151240	ENST00000280886;ENST00000381496;ENST00000423550	.	.	.	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-24.0961	16.2723	0.82628	0.0:0.0:1.0:0.0	.	.	.	.	X	122;15;178	.	ENSP00000280886:Q122X	Q	-	1	0	DIP2C	476841	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.100000	0.94213	2.197000	0.70478	0.563000	0.77884	CAG	DIP2C	-	NULL		0.607	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2C	HGNC	protein_coding	OTTHUMT00000046389.1	G	NM_014974		486841	-1	no_errors	ENST00000280886	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ECI2	10455	genome.wustl.edu	37	6	4116174	4116174	+	Silent	SNP	T	T	C			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr6:4116174T>C	ENST00000380118.3	-	10	1155	c.1119A>G	c.(1117-1119)ggA>ggG	p.G373G	ECI2_ENST00000361538.2_Silent_p.G343G|C6orf201_ENST00000380175.4_Intron|C6orf201_ENST00000430835.2_Intron|ECI2_ENST00000413766.2_Silent_p.G206G|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000380125.2_Silent_p.G343G|ECI2_ENST00000465828.1_Silent_p.G343G			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	373					fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						ATAGCCATCTTCCCTGAAGGA	0.403																																																	0													279.0	227.0	245.0					6																	4116174		2203	4300	6503	SO:0001819	synonymous_variant	10455			AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.1119A>G	6.37:g.4116174T>C			Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Silent	SNP	pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.G373	ENST00000380118.3	37	c.1119	CCDS43420.2	6																																																																																			ECI2	-	NULL		0.403	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ECI2	HGNC	protein_coding	OTTHUMT00000039716.4	T	NM_006117		4116174	-1	no_errors	ENST00000380118	ensembl	human	known	70_37	silent	SNP	0.001	C
DST	667	genome.wustl.edu	37	6	56484707	56484707	+	Silent	SNP	A	A	G			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr6:56484707A>G	ENST00000370765.6	-	23	4232	c.4125T>C	c.(4123-4125)aaT>aaC	p.N1375N	DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAGCCTTTCTATTGGCAGCTG	0.443																																																	0													143.0	138.0	140.0					6																	56484707		2203	4300	6503	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4125T>C	6.37:g.56484707A>G			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.N1375	ENST00000370765.6	37	c.4125	CCDS4959.1	6																																																																																			DST	-	NULL		0.443	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	A	NM_001723		56484707	-1	no_errors	ENST00000370765	ensembl	human	known	70_37	silent	SNP	0.454	G
EIF4G3	8672	genome.wustl.edu	37	1	21139650	21139650	+	Splice_Site	SNP	C	C	G			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr1:21139650C>G	ENST00000264211.8	-	29	4624		c.e29+1		EIF4G3_ENST00000537738.1_Splice_Site|EIF4G3_ENST00000536266.1_Splice_Site|EIF4G3_ENST00000602326.1_Splice_Site|EIF4G3_ENST00000400422.1_Splice_Site|EIF4G3_ENST00000374937.3_Splice_Site|EIF4G3_ENST00000374935.3_Splice_Site	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3						cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ATGTTACTTACCTATAATAGC	0.343																																																	0													51.0	50.0	50.0					1																	21139650		2203	4300	6503	SO:0001630	splice_region_variant	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.4429+1G>C	1.37:g.21139650C>G			B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Splice_Site	SNP	-	e29+1	ENST00000264211.8	37	c.4447+1	CCDS214.1	1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018300	0.93404	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.33	0.98713	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EIF4G3	21012237	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.461000	0.80834	2.810000	0.96702	0.585000	0.79938	.	EIF4G3	-	-		0.343	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3	C	NM_003760	Intron	21139650	-1	no_errors	ENST00000374937	ensembl	human	known	70_37	splice_site	SNP	1.000	G
Unknown	0	genome.wustl.edu	37	GL000212.1	65055	65055	+	IGR	SNP	G	G	A			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chrGL000212.1:65055G>A								None (None upstream) : None (None downstream)																							CGAGGACACCGCCCAGGGCTT	0.697																																																	0																																										SO:0001628	intergenic_variant	0																															GL000212.1.37:g.65055G>A				Silent	SNP	NULL	p.P268		37	c.804		GL000212.1																																																																																			AL356585.1	-	NULL	0	0.697					ENSG00000212857	Clone_based_ensembl_gene			G			65055	+1	no_errors	ENST00000391545	ensembl	human	known	70_37	silent	SNP	NULL	A
STRIP1	85369	genome.wustl.edu	37	1	110592049	110592049	+	Intron	DEL	T	T	-	rs529172763	byFrequency	TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr1:110592049delT	ENST00000369795.3	+	17	1810				STRIP1_ENST00000369796.1_Intron	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1						cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											GGGCCGCGCCTTTTTTTTTTT	0.463													|||unknown(HR)	2078	0.414936	0.4607	0.4035	5008	,	,		10787	0.3849		0.3986	False		,,,				2504	0.409																0													19.0	23.0	22.0					1																	110592049		2163	4280	6443	SO:0001627	intron_variant	0			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1789-33T>-	1.37:g.110592049delT			Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	RNA	DEL	-	NULL	ENST00000369795.3	37	NULL	CCDS30798.1	1																																																																																			RP4-773N10.5	-	-		0.463	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258686	Clone_based_vega_gene	protein_coding	OTTHUMT00000032213.1	T	NM_033088		110592049	+1	no_errors	ENST00000473429	ensembl	human	known	70_37	rna	DEL	0.000	-
DNM1P47	100216544	genome.wustl.edu	37	15	102304728	102304728	+	RNA	SNP	G	G	C	rs7169413		TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr15:102304728G>C	ENST00000561463.1	+	0	12774									DNM1 pseudogene 47																		GCGTGGGAACGAGAAGACACT	0.617																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304728G>C				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			CTD-2611K5.6	-	-		0.617	DNM1P47-001	KNOWN	basic	processed_transcript	ENSG00000259660	Clone_based_vega_gene	pseudogene	OTTHUMT00000417589.1	G	NG_009149		102304728	+1	no_errors	ENST00000561463	ensembl	human	known	70_37	rna	SNP	1.000	C
FAM78A	286336	genome.wustl.edu	37	9	134134559	134134559	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr9:134134559C>T	ENST00000372271.3	-	0	2869				FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_3'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A											NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		GGGTCCCGGGCGGGTAGCTGT	0.522																																																	0																																										SO:0001624	3_prime_UTR_variant	286336			AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.*1650G>A	9.37:g.134134559C>T			Q86VQ9|Q9H7P4	RNA	SNP	-	NULL	ENST00000372271.3	37	NULL	CCDS6941.2	9																																																																																			FAM78A	-	-		0.522	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78A	HGNC	protein_coding	OTTHUMT00000054720.1	C	NM_033387		134134559	-1	no_errors	ENST00000247295	ensembl	human	known	70_37	rna	SNP	0.000	T
FLG	2312	genome.wustl.edu	37	1	152282256	152282256	+	Silent	SNP	A	A	G			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr1:152282256A>G	ENST00000368799.1	-	3	5141	c.5106T>C	c.(5104-5106)gaT>gaC	p.D1702D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1702	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTACAGATGAATCTTGTCTGC	0.572									Ichthyosis																																								0													251.0	254.0	253.0					1																	152282256		2203	4300	6503	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5106T>C	1.37:g.152282256A>G			Q01720|Q5T583|Q9UC71	Silent	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.D1702	ENST00000368799.1	37	c.5106	CCDS30860.1	1																																																																																			FLG	-	pfam_Filaggrin		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	A	NM_002016		152282256	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	silent	SNP	0.000	G
FRMPD4	9758	genome.wustl.edu	37	X	12734823	12734823	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chrX:12734823G>C	ENST00000380682.1	+	15	2751	c.2245G>C	c.(2245-2247)Gag>Cag	p.E749Q		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	749					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGATGACGCGGAGGACGAGGA	0.562																																																	0													119.0	111.0	114.0					X																	12734823		2203	4300	6503	SO:0001583	missense	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2245G>C	X.37:g.12734823G>C	ENSP00000370057:p.Glu749Gln		A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.E749Q	ENST00000380682.1	37	c.2245	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383506	0.61845	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.38887	1.11	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	M	0.72118	2.19	0.42653	D	0.993451	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.981	T	0.68447	-0.5406	10	0.62326	D	0.03	.	18.5929	0.91220	0.0:0.0:1.0:0.0	.	741;749	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	Q	749;740;738	ENSP00000370057:E749Q	ENSP00000304583:E738Q	E	+	1	0	FRMPD4	12644744	1.000000	0.71417	0.867000	0.34043	0.062000	0.15995	9.241000	0.95402	2.334000	0.79466	0.600000	0.82982	GAG	FRMPD4	-	NULL		0.562	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	G	XM_045712		12734823	+1	no_errors	ENST00000380682	ensembl	human	known	70_37	missense	SNP	0.999	C
FUT8	2530	genome.wustl.edu	37	14	66190982	66190983	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr14:66190982_66190983insA	ENST00000360689.5	+	9	2927_2928	c.1200_1201insA	c.(1201-1203)aaafs	p.K401fs	FUT8_ENST00000557164.1_Frame_Shift_Ins_p.K238fs|FUT8_ENST00000394585.1_Frame_Shift_Ins_p.K401fs|FUT8_ENST00000394586.2_Frame_Shift_Ins_p.K401fs|FUT8_ENST00000358307.2_Frame_Shift_Ins_p.K272fs|FUT8_ENST00000417683.1_Intron	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	401	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TGCAAGTGGACAAAAAAAGAGT	0.421																																																	0																																										SO:0001589	frameshift_variant	2530			AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1207dupA	14.37:g.66190989_66190989dupA	ENSP00000353910:p.Lys401fs		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Frame_Shift_Ins	INS	superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk	p.R402fs	ENST00000360689.5	37	c.1200_1201	CCDS9775.1	14																																																																																			FUT8	-	pirsf_Alpha1_6FUT_euk		0.421	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT8	HGNC	protein_coding	OTTHUMT00000286406.1	-	NM_004480		66190983	+1	no_errors	ENST00000360689	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A
HERC1	8925	genome.wustl.edu	37	15	64015507	64015507	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr15:64015507C>T	ENST00000443617.2	-	19	3703	c.3616G>A	c.(3616-3618)Gaa>Aaa	p.E1206K		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1206					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGCTTCTGTTCTTCATTTCCA	0.373																																																	0													40.0	36.0	37.0					15																	64015507		1814	4077	5891	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3616G>A	15.37:g.64015507C>T	ENSP00000390158:p.Glu1206Lys		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.E1206K	ENST00000443617.2	37	c.3616	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854560	0.91355	.	.	ENSG00000103657	ENST00000443617	T	0.28069	1.63	5.34	5.34	0.76211	.	0.000000	0.85682	U	0.000000	T	0.51839	0.1698	L	0.50333	1.59	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.52268	-0.8598	10	0.72032	D	0.01	.	19.0353	0.92974	0.0:1.0:0.0:0.0	.	1206	Q15751	HERC1_HUMAN	K	1206	ENSP00000390158:E1206K	ENSP00000390158:E1206K	E	-	1	0	HERC1	61802560	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.709000	0.84645	2.484000	0.83849	0.591000	0.81541	GAA	HERC1	-	NULL		0.373	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	C	NM_003922		64015507	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	missense	SNP	1.000	T
IFNA4	3441	genome.wustl.edu	37	9	21187205	21187205	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr9:21187205G>A	ENST00000421715.1	-	1	393	c.326C>T	c.(325-327)tCc>tTc	p.S109F		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	109					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AAGTTCAGTGGAAAATTTTTC	0.498																																					NSCLC(154;890 1986 23660 27800 51138)												0													22.0	25.0	24.0					9																	21187205		2183	4274	6457	SO:0001583	missense	3441				CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"""Interferons"""	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.326C>T	9.37:g.21187205G>A	ENSP00000412897:p.Ser109Phe		P13358|Q14CS4|Q5VV15	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.S109F	ENST00000421715.1	37	c.326	CCDS6498.1	9	.	.	.	.	.	.	.	.	.	.	N	1.568	-0.534772	0.04082	.	.	ENSG00000236637	ENST00000421715	T	0.05319	3.46	2.96	-5.93	0.02254	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.390610	0.04306	N	0.348143	T	0.02119	0.0066	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.41734	-0.9492	10	0.32370	T	0.25	.	2.0033	0.03472	0.138:0.2314:0.1402:0.4904	.	109	P05014	IFNA4_HUMAN	F	109	ENSP00000412897:S109F	ENSP00000412897:S109F	S	-	2	0	IFNA4	21177205	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.390000	0.01057	-1.592000	0.01619	-2.711000	0.00134	TCC	IFNA4	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta		0.498	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA4	HGNC	protein_coding	OTTHUMT00000051889.1	G	NM_021068		21187205	-1	no_errors	ENST00000421715	ensembl	human	known	70_37	missense	SNP	0.000	A
ISM2	145501	genome.wustl.edu	37	14	77951065	77951065	+	Silent	SNP	C	C	T			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr14:77951065C>T	ENST00000342219.4	-	2	395	c.339G>A	c.(337-339)ccG>ccA	p.P113P	ISM2_ENST00000412904.1_Silent_p.P113P|ISM2_ENST00000429906.1_Intron|ISM2_ENST00000493585.1_Silent_p.P113P|ISM2_ENST00000393684.3_Silent_p.P25P	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	113						extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TGGCCAATCCCGGCAGCTTCT	0.622																																																	0													67.0	67.0	67.0					14																	77951065		2203	4300	6503	SO:0001819	synonymous_variant	145501			AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.339G>A	14.37:g.77951065C>T			A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Silent	SNP	pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt	p.P113	ENST00000342219.4	37	c.339	CCDS9864.1	14																																																																																			ISM2	-	NULL		0.622	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ISM2	HGNC	protein_coding	OTTHUMT00000351309.1	C	NM_182509		77951065	-1	no_errors	ENST00000342219	ensembl	human	known	70_37	silent	SNP	0.965	T
KHDRBS3	10656	genome.wustl.edu	37	8	136561003	136561003	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr8:136561003G>A	ENST00000355849.5	+	4	741	c.331G>A	c.(331-333)Gag>Aag	p.E111K	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	111	KH.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			CCAGGAAGAAGAGTTGAGGAA	0.343																																																	0													52.0	44.0	47.0					8																	136561003		2203	4300	6503	SO:0001583	missense	10656			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.331G>A	8.37:g.136561003G>A	ENSP00000348108:p.Glu111Lys		Q6NUL8|Q9UPA8	Missense_Mutation	SNP	smart_KH_dom	p.E111K	ENST00000355849.5	37	c.331	CCDS6374.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.175052	0.94807	.	.	ENSG00000131773	ENST00000355849;ENST00000524199;ENST00000517394	T;T;T	0.16597	2.33;2.33;2.33	5.66	5.66	0.87406	K Homology (1);	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	L	0.55213	1.73	0.80722	D	1	D;P	0.59357	0.985;0.537	P;B	0.57846	0.828;0.444	T	0.01409	-1.1362	10	0.62326	D	0.03	-33.1287	18.7305	0.91733	0.0:0.0:1.0:0.0	.	111;111	O75525-2;O75525	.;KHDR3_HUMAN	K	111;83;84	ENSP00000348108:E111K;ENSP00000431022:E83K;ENSP00000430284:E84K	ENSP00000348108:E111K	E	+	1	0	KHDRBS3	136630185	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.855000	0.99526	2.676000	0.91093	0.555000	0.69702	GAG	KHDRBS3	-	smart_KH_dom		0.343	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS3	HGNC	protein_coding	OTTHUMT00000377529.1	G			136561003	+1	no_errors	ENST00000355849	ensembl	human	known	70_37	missense	SNP	1.000	A
KNDC1	85442	genome.wustl.edu	37	10	135015315	135015315	+	Silent	SNP	C	C	T			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr10:135015315C>T	ENST00000304613.3	+	17	3321	c.3300C>T	c.(3298-3300)gcC>gcT	p.A1100A	KNDC1_ENST00000368572.2_Silent_p.A1102A|KNDC1_ENST00000368571.2_Silent_p.A1035A			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1100					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCTACGAGGCCGACTGCTTCG	0.726																																																	0													6.0	7.0	7.0					10																	135015315		2131	4179	6310	SO:0001819	synonymous_variant	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3300C>T	10.37:g.135015315C>T			B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A1102	ENST00000304613.3	37	c.3306	CCDS7674.1	10																																																																																			KNDC1	-	NULL		0.726	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	C	NM_152643		135015315	+1	no_errors	ENST00000368572	ensembl	human	known	70_37	silent	SNP	0.904	T
LIMK1	3984	genome.wustl.edu	37	7	73521443	73521443	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr7:73521443C>T	ENST00000336180.2	+	8	1036	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W	LIMK1_ENST00000538333.3_Missense_Mutation_p.R295W|LIMK1_ENST00000418310.1_Missense_Mutation_p.R359W	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	329					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	CGTAGTCTGCCGGCCACACCG	0.682																																																	0													37.0	36.0	36.0					7																	73521443		2203	4299	6502	SO:0001583	missense	3984			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.985C>T	7.37:g.73521443C>T	ENSP00000336740:p.Arg329Trp		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R329W	ENST00000336180.2	37	c.985	CCDS5563.1	7	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930295	0.73327	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	T;T;T	0.62498	0.02;0.02;0.02	5.19	5.19	0.71726	Protein kinase-like domain (1);	0.260139	0.37857	N	0.001912	T	0.69672	0.3137	L	0.59436	1.845	0.49483	D	0.999791	D;D;D	0.76494	0.999;0.991;0.991	P;P;P	0.56434	0.798;0.462;0.462	T	0.72846	-0.4169	10	0.72032	D	0.01	-19.2374	12.0731	0.53628	0.0:0.8263:0.1737:0.0	.	224;295;329	Q59FA3;B7Z6I8;P53667	.;.;LIMK1_HUMAN	W	359;329;329;295	ENSP00000409717:R359W;ENSP00000336740:R329W;ENSP00000444452:R295W	ENSP00000336740:R329W	R	+	1	2	LIMK1	73159379	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.235000	0.43044	2.439000	0.82584	0.650000	0.86243	CGG	LIMK1	-	superfamily_Kinase-like_dom		0.682	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK1	HGNC	protein_coding	OTTHUMT00000252335.2	C	NM_002314		73521443	+1	no_errors	ENST00000336180	ensembl	human	known	70_37	missense	SNP	0.998	T
ERCC6L2	375748	genome.wustl.edu	37	9	98638198	98638198	+	5'UTR	SNP	G	G	C			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr9:98638198G>C	ENST00000288985.7	+	0	216				LINC00476_ENST00000429781.1_RNA	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2						DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										GCCGAAGAGCGATGCTCGGAG	0.682																																																	0																																										SO:0001623	5_prime_UTR_variant	100128782			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.-90G>C	9.37:g.98638198G>C			A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	RNA	SNP	-	NULL	ENST00000288985.7	37	NULL	CCDS35072.1	9																																																																																			LINC00476	-	-		0.682	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LINC00476	HGNC	protein_coding	OTTHUMT00000053247.2	G	NM_001010895		98638198	-1	no_errors	ENST00000321517	ensembl	human	known	70_37	rna	SNP	0.049	C
SCOC	60592	genome.wustl.edu	37	4	141214528	141214528	+	Intron	SNP	C	C	T			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr4:141214528C>T	ENST00000394205.3	+	1	125				RP11-425I13.3_ENST00000512692.2_RNA	NM_032547.2	NP_115936.2	Q9UIL1	SCOC_HUMAN	short coiled-coil protein						positive regulation of macroautophagy (GO:0016239)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					gtcttctgagcagggcacgcc	0.483																																																	0																																										SO:0001627	intron_variant	100129858			AK027797	CCDS3750.1, CCDS54806.1, CCDS54807.1	4q28.3	2014-05-22	2003-03-19		ENSG00000153130	ENSG00000153130			20335	protein-coding gene	gene with protein product			"""short coiled coil protein"""			11303027	Standard	NM_032547		Approved	HRIHFB2072, SCOCO	uc011che.1	Q9UIL1	OTTHUMG00000133416	ENST00000394205.3:c.-19+35964C>T	4.37:g.141214528C>T			B7WPH7|D3DNY7|E9PB65|Q6P5T9|Q7L2Y0|Q7Z4P2|Q96JY9|Q9BZB2	RNA	SNP	-	NULL	ENST00000394205.3	37	NULL	CCDS3750.1	4																																																																																			RP11-425I13.3	-	-		0.483	SCOC-003	KNOWN	basic|CCDS	protein_coding	LOC100129858	Clone_based_vega_gene	protein_coding	OTTHUMT00000257276.2	C			141214528	-1	no_errors	ENST00000512692	ensembl	human	known	70_37	rna	SNP	0.003	T
KIF13A	63971	genome.wustl.edu	37	6	17882266	17882266	+	Intron	SNP	G	G	A			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr6:17882266G>A	ENST00000259711.6	-	4	265				KIF13A_ENST00000378816.5_Intron|KIF13A_ENST00000378826.2_Intron|KIF13A_ENST00000378843.2_Intron|KIF13A_ENST00000378814.5_Intron	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A						ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TATGTTCCCTGCAGAACCAGA	0.403																																																	0																																										SO:0001627	intron_variant	100996300			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.160-8598C>T	6.37:g.17882266G>A			A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	NULL	p.A38V	ENST00000259711.6	37	c.113	CCDS47381.1	6	.	.	.	.	.	.	.	.	.	.	G	9.378	1.072332	0.20147	.	.	ENSG00000217340	ENST00000398387	.	.	.	2.95	1.14	0.20703	.	.	.	.	.	T	0.06371	0.0164	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.40813	-0.9543	5	0.15066	T	0.55	.	5.2472	0.15502	0.279:0.0:0.721:0.0	.	.	.	.	V	38	.	ENSP00000381423:A38V	A	-	2	0	AL023807.2	17990245	0.031000	0.19500	0.038000	0.18304	0.006000	0.05464	0.700000	0.25601	0.292000	0.22492	-0.253000	0.11424	GCA	AL023807.2	-	NULL		0.403	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC100996300	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000039954.4	G			17882266	-1	no_errors	ENST00000398387	ensembl	human	known	70_37	missense	SNP	0.050	A
MAML2	84441	genome.wustl.edu	37	11	95825372	95825374	+	In_Frame_Del	DEL	TGT	TGT	-	rs60727839|rs543548810|rs112603485|rs141671766	byFrequency	TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr11:95825372_95825374delTGT	ENST00000524717.1	-	2	3105_3107	c.1821_1823delACA	c.(1819-1824)caacag>cag	p.607_608QQ>Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	607					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q607Q(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				ctgctgctgctgttgctgctgct	0.532			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001651	inframe_deletion	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1821_1823delACA	11.37:g.95825372_95825374delTGT	ENSP00000434552:p.Gln621del		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	In_Frame_Del	DEL	pfam_Neuroggenic_mastermind-like_N	p.Q611in_frame_del	ENST00000524717.1	37	c.1823_1821	CCDS44714.1	11																																																																																			MAML2	-	NULL		0.532	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	TGT			95825374	-1	no_errors	ENST00000440572	ensembl	human	known	70_37	in_frame_del	DEL	0.003:0.003:0.003	-
MAP1A	4130	genome.wustl.edu	37	15	43816925	43816925	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr15:43816925G>A	ENST00000300231.5	+	4	3704	c.3254G>A	c.(3253-3255)gGc>gAc	p.G1085D	MAP1A_ENST00000399453.1_Missense_Mutation_p.G1085D|MAP1A_ENST00000382031.1_Missense_Mutation_p.G1323D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1085					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGGCTTACAGGCTGTACCATT	0.542																																																	0													80.0	84.0	83.0					15																	43816925		1943	4134	6077	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3254G>A	15.37:g.43816925G>A	ENSP00000300231:p.Gly1085Asp		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.G1085D	ENST00000300231.5	37	c.3254	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	G	6.344	0.431502	0.12045	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01854	4.6;4.6;4.6	4.69	3.76	0.43208	.	0.000000	0.34700	N	0.003759	T	0.09949	0.0244	M	0.76574	2.34	0.43698	D	0.99615	D	0.71674	0.998	D	0.65323	0.934	T	0.19778	-1.0295	10	0.30854	T	0.27	-18.038	14.1971	0.65679	0.0:0.1499:0.8501:0.0	.	1085	P78559	MAP1A_HUMAN	D	1323;1085;1085	ENSP00000371462:G1323D;ENSP00000382380:G1085D;ENSP00000300231:G1085D	ENSP00000300231:G1085D	G	+	2	0	MAP1A	41604217	0.466000	0.25823	0.127000	0.21898	0.012000	0.07955	1.000000	0.29770	1.564000	0.49628	0.655000	0.94253	GGC	MAP1A	-	NULL		0.542	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	G	NM_002373		43816925	+1	no_errors	ENST00000399453	ensembl	human	known	70_37	missense	SNP	0.832	A
MAP3K5	4217	genome.wustl.edu	37	6	136960681	136960681	+	Splice_Site	DEL	T	T	-			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr6:136960681delT	ENST00000359015.4	-	13	2294	c.1934delA	c.(1933-1935)aag>ag	p.K645fs	RP3-325F22.3_ENST00000432477.1_RNA|MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	645					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TAATACGTACTTTTTACAATG	0.318																																																	0													54.0	53.0	53.0					6																	136960681		2201	4290	6491	SO:0001630	splice_region_variant	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1934+1A>-	6.37:g.136960681delT			A6NIA0|B4DGB2|Q5THN3|Q99461	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K645fs	ENST00000359015.4	37	c.1934	CCDS5179.1	6																																																																																			MAP3K5	-	NULL		0.318	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	T		Frame_Shift_Del	136960681	-1	no_errors	ENST00000359015	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
MAP3K4	4216	genome.wustl.edu	37	6	161491789	161491789	+	Silent	SNP	C	C	T			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr6:161491789C>T	ENST00000392142.4	+	4	2005	c.1857C>T	c.(1855-1857)ctC>ctT	p.L619L	MAP3K4_ENST00000366920.2_Silent_p.L619L|MAP3K4_ENST00000348824.7_Silent_p.L619L|MAP3K4_ENST00000366919.2_Silent_p.L619L	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	619					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCCTAGTTCTCTGCCGAGTCC	0.483																																																	0													154.0	134.0	141.0					6																	161491789		2203	4300	6503	SO:0001819	synonymous_variant	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1857C>T	6.37:g.161491789C>T			A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L619	ENST00000392142.4	37	c.1857	CCDS34565.1	6																																																																																			MAP3K4	-	NULL		0.483	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	C			161491789	+1	no_errors	ENST00000392142	ensembl	human	known	70_37	silent	SNP	1.000	T
MDK	4192	genome.wustl.edu	37	11	46404341	46404343	+	Intron	DEL	CCC	CCC	-	rs74916763		TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	CCC	CCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr11:46404341_46404343delCCC	ENST00000405308.2	+	4	835				MDK_ENST00000395569.4_Intron|MDK_ENST00000533283.1_Intron|MDK_ENST00000407067.1_Intron|MDK_ENST00000395565.1_Intron|MDK_ENST00000395566.4_Intron|MDK_ENST00000359803.3_Intron	NM_001270550.1	NP_001257479.1	P21741	MK_HUMAN	midkine (neurite growth-promoting factor 2)						adrenal gland development (GO:0030325)|behavioral fear response (GO:0001662)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cerebellar granular layer development (GO:0021681)|cerebral cortex development (GO:0021987)|defecation (GO:0030421)|dentate gyrus development (GO:0021542)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of behavior (GO:0050795)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to wounding (GO:0009611)|short-term memory (GO:0007614)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			lung(1)	1				GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)		cggggggctgccccccccccccc	0.626																																																	0									,,	56,101,82,60,3289		3,1,1,2,46,6,1,0,87,4,1,71,5,47,1519					,,	-5.1	0.0		dbSNP_134	6	213,310,266,225,6134		7,7,7,5,180,15,13,11,249,17,9,203,14,172,2665	no	intron,intron,intron	MDK	NM_002391.3,NM_001012334.1,NM_001012333.1	,,	10,8,8,7,226,21,14,11,336,21,10,274,19,219,4184	A1A1,A1A2,A1A3,A1A4,A1R,A2A2,A2A3,A2A4,A2R,A3A3,A3A4,A3R,A4A4,A4R,RR		14.1858,8.3333,12.2299	,,	,,		269,411,348,285,9423				SO:0001627	intron_variant	4192				CCDS7919.1, CCDS59226.1	11p11.2	2008-07-18			ENSG00000110492	ENSG00000110492			6972	protein-coding gene	gene with protein product		162096		NEGF2		8406506	Standard	NM_002391		Approved	MK, FLJ27379	uc001nco.4	P21741	OTTHUMG00000150315	ENST00000405308.2:c.406+43CCC>-	11.37:g.46404350_46404352delCCC			Q2LEK4|Q9UCC7	In_Frame_Del	DEL	pfam_Midkine_heparin-bd_GF_N,pfam_Midkine_heparin-bd_GF_C,superfamily_Midkine_heparin-bd_GF_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF	p.P154in_frame_del	ENST00000405308.2	37	c.449_451	CCDS7919.1	11																																																																																			MDK	-	NULL		0.626	MDK-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MDK	HGNC	protein_coding	OTTHUMT00000317546.2	CCC	NM_001012334		46404343	+1	no_errors	ENST00000489525	ensembl	human	known	70_37	in_frame_del	DEL	0.000:0.000:0.001	-
MIR138-2	406930	genome.wustl.edu	37	16	56892472	56892472	+	RNA	SNP	C	C	T			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr16:56892472C>T	ENST00000384916.1	+	0	43					NR_029680.1				microRNA 138-2																		ACGAGCAGCGCATCCTCTTAC	0.617																																																	0													61.0	61.0	61.0					16																	56892472		1568	3582	5150			406930					16q13	2011-09-12		2008-12-18	ENSG00000207649	ENSG00000207649		"""ncRNAs / Micro RNAs"""	31525	non-coding RNA	RNA, micro		613395		MIRN138-2			Standard	NR_029680		Approved	hsa-mir-138-2	uc002ekc.3				16.37:g.56892472C>T				RNA	SNP	-	NULL	ENST00000384916.1	37	NULL		16																																																																																			MIR138-2	-	-		0.617	MIR138-2-201	KNOWN	basic	miRNA	MIR138-2	HGNC	miRNA		C	NR_029680		56892472	+1	no_errors	ENST00000384916	ensembl	human	known	70_37	rna	SNP	1.000	T
GON4L	54856	genome.wustl.edu	37	1	155716706	155716706	+	IGR	SNP	T	T	C	rs481110	byFrequency	TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr1:155716706T>C	ENST00000368331.1	-	0	7640				MSTO1_ENST00000538143.1_Missense_Mutation_p.L137P|MSTO1_ENST00000452804.2_Intron	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGCCACAACCTGAGGGTCTCC	0.453																																																	0																																										SO:0001628	intergenic_variant	55154			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106		1.37:g.155716706T>C			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase	p.L137P	ENST00000368331.1	37	c.410		1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553551	0.45487	.	.	ENSG00000125459	ENST00000538143	.	.	.	3.58	-4.47	0.03525	.	.	.	.	.	T	0.05868	0.0153	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30327	-0.9982	4	.	.	.	.	2.3498	0.04280	0.3404:0.3851:0.1567:0.1178	.	.	.	.	P	137	.	.	L	+	2	0	MSTO1	153983330	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.248000	0.08854	-1.558000	0.01690	-0.711000	0.03637	CTG	MSTO1	-	NULL		0.453	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	MSTO1	HGNC	protein_coding		T	NM_032292		155716706	+1	no_errors	ENST00000538143	ensembl	human	known	70_37	missense	SNP	0.000	C
MT-ND5	4540	genome.wustl.edu	37	M	12684	12684	+	Silent	SNP	G	G	A			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chrM:12684G>A	ENST00000361567.2	+	1	348	c.348G>A	c.(346-348)caG>caA	p.Q116Q	MT-TE_ENST00000387459.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TG_ENST00000387429.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	116					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						AACATTAATCAGTTCTTCAAA	0.368																																																	0																																										SO:0001819	synonymous_variant	4540					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.348G>A	M.37:g.12684G>A			Q34773|Q8WCY3	Silent	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.Q116	ENST00000361567.2	37	c.348		MT																																																																																			MT-ND5	-	pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5		0.368	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		G	YP_003024036		12684	+1	no_errors	ENST00000361567	ensembl	human	known	70_37	silent	SNP	NULL	A
MT-ND5	4540	genome.wustl.edu	37	M	12705	12705	+	Silent	SNP	C	C	T			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chrM:12705C>T	ENST00000361567.2	+	1	369	c.369C>T	c.(367-369)atC>atT	p.I123I	MT-TE_ENST00000387459.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TG_ENST00000387429.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	123					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TATCTACTCATTTTCCTAATT	0.373																																																	0																																										SO:0001819	synonymous_variant	4540					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.369C>T	M.37:g.12705C>T			Q34773|Q8WCY3	Silent	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.I123	ENST00000361567.2	37	c.369		MT																																																																																			MT-ND5	-	pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5		0.373	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		C	YP_003024036		12705	+1	no_errors	ENST00000361567	ensembl	human	known	70_37	silent	SNP	NULL	T
MYH13	8735	genome.wustl.edu	37	17	10212865	10212865	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr17:10212865G>C	ENST00000418404.3	-	33	5102	c.4939C>G	c.(4939-4941)Ctg>Gtg	p.L1647V	MYH13_ENST00000252172.4_Missense_Mutation_p.L1647V|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1647					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACCGTGCGCAGATGCTTCTGG	0.637																																																	0													37.0	38.0	38.0					17																	10212865		2167	4285	6452	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4939C>G	17.37:g.10212865G>C	ENSP00000404570:p.Leu1647Val		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1647V	ENST00000418404.3	37	c.4939	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439501	0.25900	.	.	ENSG00000006788	ENST00000252172	T	0.75938	-0.98	4.21	2.2	0.27929	Myosin tail (1);	.	.	.	.	T	0.60444	0.2269	L	0.33710	1.025	0.32501	N	0.538914	B	0.11235	0.004	B	0.21360	0.034	T	0.57376	-0.7822	9	0.23891	T	0.37	.	8.0072	0.30332	0.2711:0.0:0.7289:0.0	.	1647	Q9UKX3	MYH13_HUMAN	V	1647	ENSP00000252172:L1647V	ENSP00000252172:L1647V	L	-	1	2	MYH13	10153590	0.996000	0.38824	0.992000	0.48379	0.813000	0.45954	1.794000	0.38774	0.513000	0.28278	0.563000	0.77884	CTG	MYH13	-	pfam_Myosin_tail		0.637	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	G	NM_003802		10212865	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	missense	SNP	0.998	C
MYOF	26509	genome.wustl.edu	37	10	95237970	95237970	+	Intron	SNP	T	T	G			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr10:95237970T>G	ENST00000359263.4	-	1	88				MYOF_ENST00000371488.3_Intron|MYOF_ENST00000371501.4_Intron|MYOF_ENST00000371489.1_Intron|MYOF_ENST00000358334.5_Intron|MYOF_ENST00000371502.4_Intron	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin						blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGAagaatcatcaagtctcag	0.343																																																	0																																										SO:0001627	intron_variant	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.88+3893A>C	10.37:g.95237970T>G			B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	RNA	SNP	-	NULL	ENST00000359263.4	37	NULL	CCDS41551.1	10																																																																																			MYOF	-	-		0.343	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	T	NM_013451		95237970	-1	no_errors	ENST00000488645	ensembl	human	known	70_37	rna	SNP	0.000	G
NCK1	4690	genome.wustl.edu	37	3	136664512	136664512	+	Missense_Mutation	SNP	A	A	G			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr3:136664512A>G	ENST00000481752.1	+	3	478	c.314A>G	c.(313-315)tAt>tGt	p.Y105C	NCK1_ENST00000469404.1_Missense_Mutation_p.Y41C|NCK1_ENST00000288986.2_Missense_Mutation_p.Y105C			P16333	NCK1_HUMAN	NCK adaptor protein 1	105					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GAACGTCTCTATGACCTCAAC	0.413																																																	0													125.0	126.0	126.0					3																	136664512		2203	4300	6503	SO:0001583	missense	4690			X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.314A>G	3.37:g.136664512A>G	ENSP00000417273:p.Tyr105Cys		B7Z751|D3DNE3	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.Y105C	ENST00000481752.1	37	c.314	CCDS3092.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.41|19.41	3.821736|3.821736	0.71028|0.71028	.|.	.|.	ENSG00000158092|ENSG00000158092	ENST00000496489|ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000488930;ENST00000469404;ENST00000467911	.|T;T;T;T;T;T;T	.|0.69306	.|-0.32;-0.32;1.39;0.78;2.29;-0.39;2.29	6.16|6.16	6.16|6.16	0.99307|0.99307	.|Src homology-3 domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76593|0.76593	0.4009|0.4009	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D	.|0.62365	.|0.975;0.991	.|P;P	.|0.57776	.|0.67;0.827	T|T	0.76242|0.76242	-0.3031|-0.3031	5|10	.|0.40728	.|T	.|0.16	-11.1531|-11.1531	14.7581|14.7581	0.69583|0.69583	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|41;105	.|B7Z751;P16333	.|.;NCK1_HUMAN	V|C	93|105;105;105;105;105;41;41	.|ENSP00000288986:Y105C;ENSP00000417273:Y105C;ENSP00000419302:Y105C;ENSP00000419677:Y105C;ENSP00000417729:Y105C;ENSP00000419631:Y41C;ENSP00000418060:Y41C	.|ENSP00000288986:Y105C	M|Y	+|+	1|2	0|0	NCK1|NCK1	138147202|138147202	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.859000|8.859000	0.92264|0.92264	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	ATG|TAT	NCK1	-	superfamily_SH3_domain,pirsf_Cytoplasmic_NCK		0.413	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NCK1	HGNC	protein_coding	OTTHUMT00000357307.1	A	NM_006153		136664512	+1	no_errors	ENST00000288986	ensembl	human	known	70_37	missense	SNP	1.000	G
OR6Y1	391112	genome.wustl.edu	37	1	158517747	158517747	+	Missense_Mutation	SNP	A	A	G			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr1:158517747A>G	ENST00000302617.3	-	1	148	c.149T>C	c.(148-150)aTc>aCc	p.I50T		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I50N(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGCTAAGATGATAAGAAGATT	0.478																																																	1	Substitution - Missense(1)	lung(1)											53.0	51.0	52.0					1																	158517747		2202	4300	6502	SO:0001583	missense	391112			BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.149T>C	1.37:g.158517747A>G	ENSP00000304807:p.Ile50Thr		Q6IFS0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I50T	ENST00000302617.3	37	c.149	CCDS30899.1	1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.896850	0.52121	.	.	ENSG00000197532	ENST00000302617	T	0.00531	6.76	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000646	T	0.01029	0.0034	M	0.89534	3.04	0.20307	N	0.999918	D	0.71674	0.998	D	0.62955	0.909	T	0.26780	-1.0093	10	0.87932	D	0	.	13.9452	0.64080	1.0:0.0:0.0:0.0	.	50	Q8NGX8	OR6Y1_HUMAN	T	50	ENSP00000304807:I50T	ENSP00000304807:I50T	I	-	2	0	OR6Y1	156784371	0.831000	0.29352	0.984000	0.44739	0.725000	0.41563	3.024000	0.49674	2.176000	0.68965	0.460000	0.39030	ATC	OR6Y1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.478	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6Y1	HGNC	protein_coding	OTTHUMT00000051844.1	A	NM_001005189		158517747	-1	no_errors	ENST00000302617	ensembl	human	known	70_37	missense	SNP	0.301	G
PCDHB13	56123	genome.wustl.edu	37	5	140595330	140595330	+	Silent	SNP	G	G	A			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr5:140595330G>A	ENST00000341948.4	+	1	1822	c.1635G>A	c.(1633-1635)gcG>gcA	p.A545A		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	545	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGCGAGGCGCTGGTGCGCG	0.701																																																	0													38.0	43.0	41.0					5																	140595330		2203	4298	6501	SO:0001819	synonymous_variant	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1635G>A	5.37:g.140595330G>A			A8K9V6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A545	ENST00000341948.4	37	c.1635	CCDS4255.1	5																																																																																			PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.701	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	G	NM_018933		140595330	+1	no_errors	ENST00000341948	ensembl	human	known	70_37	silent	SNP	0.181	A
PLS1	5357	genome.wustl.edu	37	3	142396905	142396905	+	Missense_Mutation	SNP	A	A	C			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr3:142396905A>C	ENST00000337777.3	+	6	742	c.529A>C	c.(529-531)Att>Ctt	p.I177L	PLS1_ENST00000497002.1_Missense_Mutation_p.I177L|PLS1_ENST00000457734.2_Missense_Mutation_p.I177L	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	177	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						ACCAGATACAATTGATGAAAG	0.289																																																	0													113.0	111.0	111.0					3																	142396905		2203	4299	6502	SO:0001583	missense	5357			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.529A>C	3.37:g.142396905A>C	ENSP00000336831:p.Ile177Leu		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	pfam_CH-domain,pfam_EF-hand,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2	p.I177L	ENST00000337777.3	37	c.529	CCDS3125.1	3	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165672	0.78339	.	.	ENSG00000120756	ENST00000457734;ENST00000476044;ENST00000337777;ENST00000497002	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	4.97	4.97	0.65823	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.95335	0.8486	L	0.52573	1.65	0.80722	D	1	B	0.23990	0.095	B	0.36289	0.221	D	0.94247	0.7490	10	0.87932	D	0	-18.9795	14.6515	0.68800	1.0:0.0:0.0:0.0	.	177	Q14651	PLSI_HUMAN	L	177;98;177;177	ENSP00000387890:I177L;ENSP00000417481:I98L;ENSP00000336831:I177L;ENSP00000418700:I177L	ENSP00000336831:I177L	I	+	1	0	PLS1	143879595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.858000	0.92256	1.864000	0.54056	0.533000	0.62120	ATT	PLS1	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.289	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLS1	HGNC	protein_coding	OTTHUMT00000354435.1	A	NM_002670		142396905	+1	no_errors	ENST00000337777	ensembl	human	known	70_37	missense	SNP	1.000	C
PMPCA	23203	genome.wustl.edu	37	9	139312506	139312506	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr9:139312506delC	ENST00000371717.3	+	8	944	c.935delC	c.(934-936)accfs	p.T312fs	PMPCA_ENST00000399219.3_Frame_Shift_Del_p.T181fs|PMPCA_ENST00000462616.1_3'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	312					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		CTGGGCCCGACCCCCATCCCC	0.557																																																	0													164.0	162.0	162.0					9																	139312506		2203	4300	6503	SO:0001589	frameshift_variant	23203			D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.935delC	9.37:g.139312506delC	ENSP00000360782:p.Thr312fs		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Frame_Shift_Del	DEL	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.I314fs	ENST00000371717.3	37	c.935	CCDS35180.1	9																																																																																			PMPCA	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd		0.557	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCA	HGNC	protein_coding	OTTHUMT00000055054.1	C	NM_015160		139312506	+1	no_errors	ENST00000371717	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
PMPCA	23203	genome.wustl.edu	37	9	139312511	139312511	+	Missense_Mutation	SNP	A	A	G			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr9:139312511A>G	ENST00000371717.3	+	8	949	c.940A>G	c.(940-942)Atc>Gtc	p.I314V	PMPCA_ENST00000399219.3_Missense_Mutation_p.I183V|PMPCA_ENST00000462616.1_3'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	314					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		CCCGACCCCCATCCCCGAGCT	0.562																																																	0													163.0	161.0	162.0					9																	139312511		2203	4300	6503	SO:0001583	missense	23203			D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.940A>G	9.37:g.139312511A>G	ENSP00000360782:p.Ile314Val		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.I314V	ENST00000371717.3	37	c.940	CCDS35180.1	9	.	.	.	.	.	.	.	.	.	.	A	14.15	2.449400	0.43531	.	.	ENSG00000165688	ENST00000371717;ENST00000399219;ENST00000444897	T;T;T	0.11821	2.78;2.74;3.24	5.53	4.38	0.52667	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.089887	0.85682	D	0.000000	T	0.12603	0.0306	L	0.40543	1.245	0.58432	D	0.999995	B;B;B;B	0.30193	0.015;0.008;0.272;0.008	B;B;B;B	0.33568	0.044;0.027;0.166;0.027	T	0.09684	-1.0663	10	0.33141	T	0.24	.	9.467	0.38820	0.7891:0.0:0.0:0.2108	.	183;314;22;314	B4DKL3;Q5SXM9;Q5SXN9;Q10713	.;.;.;MPPA_HUMAN	V	314;183;22	ENSP00000360782:I314V;ENSP00000416702:I183V;ENSP00000408393:I22V	ENSP00000360782:I314V	I	+	1	0	PMPCA	138432332	1.000000	0.71417	0.666000	0.29783	0.932000	0.56968	7.081000	0.76844	0.922000	0.37019	0.454000	0.30748	ATC	PMPCA	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd		0.562	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCA	HGNC	protein_coding	OTTHUMT00000055054.1	A	NM_015160		139312511	+1	no_errors	ENST00000371717	ensembl	human	known	70_37	missense	SNP	0.993	G
POTED	317754	genome.wustl.edu	37	21	14982955	14982955	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr21:14982955C>T	ENST00000299443.5	+	1	458	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	136						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						GTACCACATCCGTCGAGAAGA	0.587																																																	0													40.0	55.0	52.0					21																	14982955		786	3138	3924	SO:0001583	missense	317754			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.406C>T	21.37:g.14982955C>T	ENSP00000299443:p.Arg136Cys		C9JCF7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R136C	ENST00000299443.5	37	c.406	CCDS13562.1	21	.	.	.	.	.	.	.	.	.	.	C	5.957	0.360502	0.11296	.	.	ENSG00000166351	ENST00000299443	T	0.53423	0.62	1.29	0.215	0.15253	.	.	.	.	.	T	0.43831	0.1265	L	0.40543	1.245	0.09310	N	1	D	0.56521	0.976	P	0.52066	0.689	T	0.28332	-1.0047	9	0.52906	T	0.07	.	5.0343	0.14426	0.0:0.6154:0.3846:0.0	.	136	Q86YR6	POTED_HUMAN	C	136	ENSP00000299443:R136C	ENSP00000299443:R136C	R	+	1	0	POTED	13904826	0.014000	0.17966	0.002000	0.10522	0.009000	0.06853	0.182000	0.16900	0.063000	0.16370	0.184000	0.17185	CGT	POTED	-	NULL		0.587	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTED	HGNC	protein_coding	OTTHUMT00000157660.1	C	NM_174981		14982955	+1	no_errors	ENST00000299443	ensembl	human	known	70_37	missense	SNP	0.002	T
PTF1A	256297	genome.wustl.edu	37	10	23481515	23481515	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr10:23481515C>T	ENST00000376504.3	+	1	260	c.56C>T	c.(55-57)tCg>tTg	p.S19L		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	19					amacrine cell differentiation (GO:0035881)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|exocrine pancreas development (GO:0031017)|neuron fate commitment (GO:0048663)|pancreas development (GO:0031016)|regulation of neural retina development (GO:0061074)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|retinoic acid receptor signaling pathway (GO:0048384)|tissue development (GO:0009888)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						TTTCCTTCTTCGTACTTCGAC	0.667																																																	0													68.0	63.0	65.0					10																	23481515		2203	4300	6503	SO:0001583	missense	256297			BK000272	CCDS7143.1	10p12.31	2013-05-21			ENSG00000168267	ENSG00000168267		"""Basic helix-loop-helix proteins"""	23734	protein-coding gene	gene with protein product		607194				8703005	Standard	NM_178161		Approved	PTF1-p48, bHLHa29	uc001irp.3	Q7RTS3	OTTHUMG00000017815	ENST00000376504.3:c.56C>T	10.37:g.23481515C>T	ENSP00000365687:p.Ser19Leu		Q9HC25	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.S19L	ENST00000376504.3	37	c.56	CCDS7143.1	10	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013156	0.35511	.	.	ENSG00000168267	ENST00000376504	D	0.94897	-3.55	2.96	2.96	0.34315	.	0.310729	0.30159	U	0.010276	D	0.87815	0.6272	N	0.14661	0.345	0.26682	N	0.971512	B	0.21452	0.056	B	0.12156	0.007	T	0.82651	-0.0352	10	0.87932	D	0	-1.896	12.5829	0.56399	0.0:1.0:0.0:0.0	.	19	Q7RTS3	PTF1A_HUMAN	L	19	ENSP00000365687:S19L	ENSP00000365687:S19L	S	+	2	0	PTF1A	23521521	0.067000	0.21026	0.023000	0.16930	0.188000	0.23474	2.639000	0.46570	1.490000	0.48466	0.313000	0.20887	TCG	PTF1A	-	NULL		0.667	PTF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTF1A	HGNC	protein_coding	OTTHUMT00000047210.1	C	NM_178161		23481515	+1	no_errors	ENST00000376504	ensembl	human	known	70_37	missense	SNP	0.795	T
RNF145	153830	genome.wustl.edu	37	5	158585861	158585861	+	Silent	SNP	G	G	A			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr5:158585861G>A	ENST00000424310.2	-	11	2168	c.1809C>T	c.(1807-1809)gtC>gtT	p.V603V	RNF145_ENST00000274542.2_Silent_p.V631V|RNF145_ENST00000521606.2_Silent_p.V620V|RNF145_ENST00000520638.1_Silent_p.V617V|RNF145_ENST00000518802.1_Silent_p.V633V|RNF145_ENST00000519865.1_Silent_p.V603V|RNF145_ENST00000518284.1_5'UTR	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	603						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTGAAACATGACGTTTTGCT	0.532																																																	0													83.0	77.0	79.0					5																	158585861		2203	4300	6503	SO:0001819	synonymous_variant	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.1809C>T	5.37:g.158585861G>A			B7Z903|B7Z949|E7EVI7|Q8IVP7	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.V631	ENST00000424310.2	37	c.1893	CCDS56390.1	5																																																																																			RNF145	-	NULL		0.532	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF145	HGNC	protein_coding	OTTHUMT00000374048.1	G	NM_144726		158585861	-1	no_errors	ENST00000274542	ensembl	human	known	70_37	silent	SNP	0.000	A
RPL10A	4736	genome.wustl.edu	37	6	35436196	35436196	+	5'UTR	SNP	C	C	G	rs373878090	byFrequency	TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr6:35436196C>G	ENST00000322203.6	+	0	12				RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a						anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						TTCCGGTTAGCGCGGCGTGAG	0.597											OREG0017378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													102.0	91.0	95.0					6																	35436196		2203	4300	6503	SO:0001623	5_prime_UTR_variant	4736			U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"""L ribosomal proteins"""	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.-16C>G	6.37:g.35436196C>G		855	B2R801|P52859|P53025|Q5TZT6|Q8J013	RNA	SNP	-	NULL	ENST00000322203.6	37	NULL	CCDS4806.1	6																																																																																			RPL10A	-	-		0.597	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL10A	HGNC	protein_coding	OTTHUMT00000040283.1	C	NM_007104		35436196	+1	no_errors	ENST00000467020	ensembl	human	known	70_37	rna	SNP	0.000	G
SIRT1	23411	genome.wustl.edu	37	10	69672357	69672357	+	Missense_Mutation	SNP	G	G	A	rs369274325		TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr10:69672357G>A	ENST00000212015.6	+	8	1537	c.1484G>A	c.(1483-1485)gGt>gAt	p.G495D	SIRT1_ENST00000403579.1_Missense_Mutation_p.G192D|SIRT1_ENST00000432464.1_Missense_Mutation_p.G200D|SIRT1_ENST00000406900.1_Missense_Mutation_p.G192D	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	495	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AGGTTAGGTGGTGAATATGCC	0.358																																																	0								G	ASP/GLY,ASP/GLY	1,4405	2.1+/-5.4	0,1,2202	101.0	100.0	100.0		599,1484	5.9	1.0	10		100	0,8600		0,0,4300	no	missense,missense	SIRT1	NM_001142498.1,NM_012238.4	94,94	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	200/453,495/748	69672357	1,13005	2203	4300	6503	SO:0001583	missense	23411			AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1484G>A	10.37:g.69672357G>A	ENSP00000212015:p.Gly495Asp		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.G495D	ENST00000212015.6	37	c.1484	CCDS7273.1	10	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885334	0.51908	2.27E-4	0.0	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.92	5.92	0.95590	.	0.220796	0.45361	D	0.000365	T	0.12347	0.0300	N	0.24115	0.695	0.80722	D	1	B;B	0.28378	0.017;0.209	B;B	0.26202	0.016;0.067	T	0.05068	-1.0908	10	0.02654	T	1	-18.2209	19.9317	0.97122	0.0:0.0:1.0:0.0	.	192;495	B0QZ35;Q96EB6	.;SIRT1_HUMAN	D	495;200;192;192	ENSP00000212015:G495D;ENSP00000409208:G200D;ENSP00000384508:G192D;ENSP00000384063:G192D	ENSP00000212015:G495D	G	+	2	0	SIRT1	69342363	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.306000	0.72810	2.810000	0.96702	0.650000	0.86243	GGT	SIRT1	-	pfscan_Ssirtuin_cat_dom		0.358	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT1	HGNC	protein_coding	OTTHUMT00000048296.1	G			69672357	+1	no_errors	ENST00000212015	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC16A4	9122	genome.wustl.edu	37	1	110919773	110919773	+	Silent	SNP	C	C	T			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr1:110919773C>T	ENST00000369779.4	-	7	1290	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E	SLC16A4_ENST00000541986.1_Silent_p.E285E|SLC16A4_ENST00000369781.4_Silent_p.E179E|SLC16A4_ENST00000472422.2_Silent_p.E299E|SLC16A4_ENST00000437429.2_Silent_p.E237E|SLC16A4_ENST00000497687.1_5'Flank	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	347					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GACTGACCGTCTCAAGGATAC	0.383																																																	0													163.0	154.0	157.0					1																	110919773		2203	4300	6503	SO:0001819	synonymous_variant	9122			U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.1041G>A	1.37:g.110919773C>T			A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E347	ENST00000369779.4	37	c.1041	CCDS823.1	1																																																																																			SLC16A4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.383	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A4	HGNC	protein_coding	OTTHUMT00000031115.3	C	NM_004696		110919773	-1	no_errors	ENST00000369779	ensembl	human	known	70_37	silent	SNP	0.999	T
SLC25A39	51629	genome.wustl.edu	37	17	42400685	42400685	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr17:42400685G>A	ENST00000377095.5	-	3	231	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	SLC25A39_ENST00000225308.8_Missense_Mutation_p.R38C|SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000537904.2_Missense_Mutation_p.R38C|SLC25A39_ENST00000590194.1_Missense_Mutation_p.R38C	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	38					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GACTGCAGGCGAACCTTCACC	0.632																																																	0													48.0	46.0	47.0					17																	42400685		2203	4300	6503	SO:0001583	missense	51629			BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.112C>T	17.37:g.42400685G>A	ENSP00000366299:p.Arg38Cys		A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.R38C	ENST00000377095.5	37	c.112	CCDS45700.1	17	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842664	0.51057	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	D;D;D	0.84442	-1.85;-1.85;-1.85	4.74	4.74	0.60224	Mitochondrial carrier domain (2);	0.054760	0.64402	N	0.000001	D	0.91781	0.7400	M	0.85859	2.78	0.80722	D	1	B;B;D;D;D	0.76494	0.037;0.083;0.999;0.978;0.998	B;B;D;P;D	0.69142	0.017;0.026;0.948;0.693;0.962	D	0.92296	0.5845	10	0.62326	D	0.03	-24.7046	11.677	0.51436	0.0:0.0:0.8229:0.1771	.	38;38;38;38;38	B4DVL9;B4DI93;B4DFG5;Q9BZJ4;Q9BZJ4-2	.;.;.;S2539_HUMAN;.	C	38	ENSP00000225308:R38C;ENSP00000366299:R38C;ENSP00000444540:R38C	ENSP00000225308:R38C	R	-	1	0	SLC25A39	39756211	1.000000	0.71417	0.936000	0.37596	0.270000	0.26580	2.588000	0.46137	2.468000	0.83385	0.655000	0.94253	CGC	SLC25A39	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.632	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A39	HGNC	protein_coding	OTTHUMT00000457745.1	G	NM_016016		42400685	-1	no_errors	ENST00000377095	ensembl	human	known	70_37	missense	SNP	0.995	A
SP6	80320	genome.wustl.edu	37	17	45924676	45924676	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr17:45924676G>A	ENST00000536300.1	-	2	1451	c.1120C>T	c.(1120-1122)Ccc>Tcc	p.P374S	SP6_ENST00000342234.2_Missense_Mutation_p.P374S	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	374					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CAGTTGGAGGGAGCCACGCTG	0.731																																																	0													6.0	9.0	8.0					17																	45924676		2093	4129	6222	SO:0001583	missense	80320				CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14530	protein-coding gene	gene with protein product	"""epiprofin"""	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.1120C>T	17.37:g.45924676G>A	ENSP00000438209:p.Pro374Ser		B3KXS4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P374S	ENST00000536300.1	37	c.1120	CCDS11520.1	17	.	.	.	.	.	.	.	.	.	.	G	1.024	-0.683890	0.03353	.	.	ENSG00000189120	ENST00000342234;ENST00000536300	T;T	0.06608	3.28;3.28	4.5	0.188	0.15114	.	0.205941	0.24578	N	0.037325	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42050	-0.9474	10	0.31617	T	0.26	.	4.9097	0.13816	0.3592:0.1498:0.491:0.0	.	374	Q3SY56	SP6_HUMAN	S	374	ENSP00000340799:P374S;ENSP00000438209:P374S	ENSP00000340799:P374S	P	-	1	0	SP6	43279675	0.974000	0.33945	0.038000	0.18304	0.041000	0.13682	0.822000	0.27352	-0.085000	0.12573	0.462000	0.41574	CCC	SP6	-	NULL		0.731	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SP6	HGNC	protein_coding	OTTHUMT00000441395.1	G	NM_199262		45924676	-1	no_errors	ENST00000342234	ensembl	human	known	70_37	missense	SNP	0.049	A
SPAG17	200162	genome.wustl.edu	37	1	118609416	118609416	+	Missense_Mutation	SNP	A	A	G			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr1:118609416A>G	ENST00000336338.5	-	18	2557	c.2492T>C	c.(2491-2493)tTg>tCg	p.L831S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	831						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCACAATGCAAACGTTGTCT	0.358																																																	0													133.0	121.0	125.0					1																	118609416		2203	4300	6503	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2492T>C	1.37:g.118609416A>G	ENSP00000337804:p.Leu831Ser		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.L831S	ENST00000336338.5	37	c.2492	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	A	6.519	0.463900	0.12402	.	.	ENSG00000155761	ENST00000336338	T	0.27402	1.67	5.21	-1.4	0.08968	.	0.707104	0.14081	N	0.342704	T	0.13500	0.0327	L	0.47190	1.495	0.09310	N	1	P	0.46142	0.873	B	0.42282	0.382	T	0.16364	-1.0405	10	0.48119	T	0.1	.	13.4364	0.61086	0.2768:0.0:0.0:0.7232	.	831	Q6Q759	SPG17_HUMAN	S	831	ENSP00000337804:L831S	ENSP00000337804:L831S	L	-	2	0	SPAG17	118410939	0.422000	0.25473	0.624000	0.29186	0.124000	0.20399	0.437000	0.21543	-0.175000	0.10725	-0.347000	0.07816	TTG	SPAG17	-	NULL		0.358	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	A	NM_206996		118609416	-1	no_errors	ENST00000336338	ensembl	human	known	70_37	missense	SNP	0.029	G
STARD13	90627	genome.wustl.edu	37	13	33701650	33701650	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr13:33701650G>T	ENST00000336934.5	-	6	1898	c.1782C>A	c.(1780-1782)caC>caA	p.H594Q	STARD13_ENST00000255486.4_Missense_Mutation_p.H586Q|STARD13_ENST00000399365.3_Missense_Mutation_p.H476Q	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	594					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCCGGGGCTGGTGCGACAGCT	0.622																																																	0													21.0	21.0	21.0					13																	33701650		2199	4300	6499	SO:0001583	missense	90627			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1782C>A	13.37:g.33701650G>T	ENSP00000338785:p.His594Gln		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.H594Q	ENST00000336934.5	37	c.1782	CCDS9348.1	13	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636605	0.67130	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.06849	3.25;3.25;3.26	5.15	3.13	0.36017	.	0.111385	0.64402	D	0.000007	T	0.09069	0.0224	M	0.75264	2.295	0.80722	D	1	B;B;B;B	0.33940	0.433;0.047;0.023;0.017	B;B;B;B	0.30716	0.119;0.099;0.022;0.02	T	0.10428	-1.0630	10	0.33940	T	0.23	.	4.1169	0.10086	0.5105:0.0:0.4895:0.0	.	586;559;594;586	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	Q	476;586;594;586	ENSP00000382300:H476Q;ENSP00000255486:H586Q;ENSP00000338785:H594Q	ENSP00000255486:H586Q	H	-	3	2	STARD13	32599650	1.000000	0.71417	0.999000	0.59377	0.722000	0.41435	1.861000	0.39438	1.180000	0.42898	0.655000	0.94253	CAC	STARD13	-	NULL		0.622	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2	G	NM_001243466		33701650	-1	no_errors	ENST00000336934	ensembl	human	known	70_37	missense	SNP	1.000	T
STC2	8614	genome.wustl.edu	37	5	172755130	172755130	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr5:172755130G>A	ENST00000265087.4	-	1	1376	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	23					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCGGTCCCCCGCGCCGGGTCA	0.632																																																	0													96.0	101.0	99.0					5																	172755130		2203	4300	6503	SO:0001583	missense	8614			AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.67C>T	5.37:g.172755130G>A	ENSP00000265087:p.Arg23Trp			Missense_Mutation	SNP	pfam_Stanniocalcin	p.R23W	ENST00000265087.4	37	c.67	CCDS4388.1	5	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084993	0.36758	.	.	ENSG00000113739	ENST00000265087	.	.	.	4.91	4.02	0.46733	.	1.015990	0.07858	N	0.965740	T	0.23492	0.0568	N	0.14661	0.345	0.09310	N	1	D	0.61697	0.99	P	0.47075	0.536	T	0.08452	-1.0721	9	0.38643	T	0.18	-4.5364	7.2968	0.26397	0.0858:0.0:0.7437:0.1705	.	23	O76061	STC2_HUMAN	W	23	.	ENSP00000265087:R23W	R	-	1	2	STC2	172687736	0.417000	0.25432	0.075000	0.20258	0.233000	0.25261	1.994000	0.40757	1.273000	0.44346	0.655000	0.94253	CGG	STC2	-	pfam_Stanniocalcin		0.632	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STC2	HGNC	protein_coding	OTTHUMT00000252965.1	G	NM_003714		172755130	-1	no_errors	ENST00000265087	ensembl	human	known	70_37	missense	SNP	0.191	A
SUGT1P3	283507	genome.wustl.edu	37	13	41495643	41495643	+	RNA	SNP	A	A	C			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr13:41495643A>C	ENST00000304932.4	-	0	180					NR_003365.2				SUGT1 pseudogene 3																		GGTCGATTAGAGCATCTGAGA	0.537											OREG0022377	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												283507					13q14.11	2013-10-18	2013-10-18	2010-10-27	ENSG00000239827	ENSG00000239827			20513	pseudogene	pseudogene			"""SGT1, suppressor of G2 allele of SKP1 like 1 (S. cerevisiae)"", ""suppressor of G2 allele of SKP1 (S. cerevisiae) pseudogene 3"""	SUGT1L1			Standard	NR_003365		Approved		uc001uxq.3		OTTHUMG00000016780		13.37:g.41495643A>C		901		Silent	SNP	pfscan_TPR-contain_dom	p.A21	ENST00000304932.4	37	c.63		13																																																																																			SUGT1P3	-	NULL		0.537	SUGT1P3-002	KNOWN	basic	processed_transcript	SUGT1P3	HGNC	pseudogene	OTTHUMT00000044647.3	A			41495643	-1	no_errors	ENST00000494063	ensembl	human	known	70_37	silent	SNP	0.931	C
TPR	7175	genome.wustl.edu	37	1	186303601	186303601	+	Missense_Mutation	SNP	T	T	G			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr1:186303601T>G	ENST00000367478.4	-	36	5334	c.5038A>C	c.(5038-5040)Aaa>Caa	p.K1680Q		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1680					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCTGTCACTTTACTTGGAGTA	0.453			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0													154.0	159.0	158.0					1																	186303601		1964	4148	6112	SO:0001583	missense	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5038A>C	1.37:g.186303601T>G	ENSP00000356448:p.Lys1680Gln		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.K1680Q	ENST00000367478.4	37	c.5038	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.173695	0.78452	.	.	ENSG00000047410	ENST00000367478	T	0.25912	1.77	5.29	5.29	0.74685	.	0.045148	0.85682	D	0.000000	T	0.44180	0.1281	L	0.48642	1.525	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	T	0.34153	-0.9840	10	0.59425	D	0.04	.	15.5195	0.75854	0.0:0.0:0.0:1.0	.	1680	P12270	TPR_HUMAN	Q	1680	ENSP00000356448:K1680Q	ENSP00000356448:K1680Q	K	-	1	0	TPR	184570224	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.655000	0.83696	2.122000	0.65172	0.383000	0.25322	AAA	TPR	-	NULL		0.453	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	T	NM_003292		186303601	-1	no_errors	ENST00000367478	ensembl	human	known	70_37	missense	SNP	1.000	G
WDR11	55717	genome.wustl.edu	37	10	122668664	122668664	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr10:122668664C>T	ENST00000263461.6	+	0	4360				WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11						cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AAGAGAGATACAAACAAGGCA	0.299																																																	0																																										SO:0001624	3_prime_UTR_variant	55717			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.*439C>T	10.37:g.122668664C>T			A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	RNA	SNP	-	NULL	ENST00000263461.6	37	NULL	CCDS7619.1	10																																																																																			WDR11	-	-		0.299	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	WDR11	HGNC	protein_coding	OTTHUMT00000050707.2	C			122668664	+1	no_errors	ENST00000497136	ensembl	human	known	70_37	rna	SNP	0.000	T
YLPM1	56252	genome.wustl.edu	37	14	75266333	75266333	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr14:75266333G>T	ENST00000325680.7	+	5	4457	c.4333G>T	c.(4333-4335)Gta>Tta	p.V1445L	YLPM1_ENST00000238571.3_Missense_Mutation_p.V1250L|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1250					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCTTGGAGGGGTAATGGTTCT	0.458																																																	0													84.0	78.0	80.0					14																	75266333		1922	4138	6060	SO:0001583	missense	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.4333G>T	14.37:g.75266333G>T	ENSP00000324463:p.Val1445Leu		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.V1445L	ENST00000325680.7	37	c.4333	CCDS45135.1	14	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096830	0.76870	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.96	5.96	0.96718	.	0.000000	0.56097	D	0.000033	T	0.76241	0.3960	L	0.51422	1.61	0.45205	D	0.998216	D	0.67145	0.996	D	0.77557	0.99	T	0.72620	-0.4238	9	0.41790	T	0.15	-9.2772	20.4173	0.99028	0.0:0.0:1.0:0.0	.	1445	P49750-4	.	L	1445;1250;1158	.	ENSP00000238571:V1250L	V	+	1	0	YLPM1	74336086	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.680000	0.68168	2.826000	0.97356	0.637000	0.83480	GTA	YLPM1	-	NULL		0.458	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YLPM1	Uniprot_genename	protein_coding	OTTHUMT00000404451.1	G	NM_019589		75266333	+1	no_errors	ENST00000325680	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF777	27153	genome.wustl.edu	37	7	149153010	149153010	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr7:149153010G>C	ENST00000247930.4	-	2	427	c.104C>G	c.(103-105)tCc>tGc	p.S35C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	35					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AAGAACGCGGGATTGGAACAG	0.542																																																	0													75.0	81.0	79.0					7																	149153010		1877	4107	5984	SO:0001583	missense	27153			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.104C>G	7.37:g.149153010G>C	ENSP00000247930:p.Ser35Cys		Q8N2R2|Q8N659	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S35C	ENST00000247930.4	37	c.104	CCDS43675.1	7	.	.	.	.	.	.	.	.	.	.	G	15.00	2.701979	0.48307	.	.	ENSG00000196453	ENST00000247930	T	0.06068	3.35	4.6	3.66	0.41972	.	0.159150	0.30151	N	0.010295	T	0.06508	0.0167	N	0.24115	0.695	0.09310	N	1	D	0.61697	0.99	P	0.47162	0.54	T	0.23726	-1.0180	10	0.62326	D	0.03	-27.4078	10.4936	0.44764	0.0:0.0:0.8072:0.1928	.	35	Q9ULD5-2	.	C	35	ENSP00000247930:S35C	ENSP00000247930:S35C	S	-	2	0	ZNF777	148783943	0.147000	0.22687	0.335000	0.25508	0.974000	0.67602	1.502000	0.35704	2.275000	0.75901	0.563000	0.77884	TCC	ZNF777	-	NULL		0.542	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF777	HGNC	protein_coding	OTTHUMT00000352708.1	G	NM_015694		149153010	-1	no_errors	ENST00000247930	ensembl	human	known	70_37	missense	SNP	0.082	C
