#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCG8	64241	genome.wustl.edu	37	2	44073306	44073306	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr2:44073306T>A	ENST00000272286.2	+	3	268	c.178T>A	c.(178-180)Tct>Act	p.S60T		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	60	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GGACCTGGCCTCTCAGGTCCC	0.532																																																	0													67.0	68.0	67.0					2																	44073306		2203	4300	6503	SO:0001583	missense	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.178T>A	2.37:g.44073306T>A	ENSP00000272286:p.Ser60Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QN8	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like	p.S60T	ENST00000272286.2	37	c.178	CCDS1815.1	2	.	.	.	.	.	.	.	.	.	.	T	12.52	1.961454	0.34565	.	.	ENSG00000143921	ENST00000272286	D	0.87966	-2.32	5.69	3.22	0.36961	ABC transporter-like (1);	0.237383	0.43919	D	0.000516	T	0.81767	0.4892	N	0.14661	0.345	0.39880	D	0.973622	P;P	0.52061	0.95;0.917	P;P	0.52386	0.697;0.501	T	0.77370	-0.2613	10	0.22706	T	0.39	.	12.5626	0.56291	0.0:0.0:0.4038:0.5962	.	60;60	Q9H221-2;Q9H221	.;ABCG8_HUMAN	T	60	ENSP00000272286:S60T	ENSP00000272286:S60T	S	+	1	0	ABCG8	43926810	1.000000	0.71417	0.835000	0.33067	0.001000	0.01503	2.425000	0.44723	0.389000	0.25086	-0.323000	0.08544	TCT	ABCG8	-	pfscan_ABC_transporter-like		0.532	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	HGNC	protein_coding	OTTHUMT00000250671.1	T	NM_022437		44073306	+1	no_errors	ENST00000272286	ensembl	human	known	70_37	missense	SNP	0.998	A
ADRB2	154	genome.wustl.edu	37	5	148206530	148206530	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr5:148206530G>A	ENST00000305988.4	+	1	375	c.136G>A	c.(136-138)Gcc>Acc	p.A46T		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	46					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)	CATCGTCCTGGCCATCGTGTT	0.582																																																	0													188.0	170.0	176.0					5																	148206530		2203	4300	6503	SO:0001583	missense	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.136G>A	5.37:g.148206530G>A	ENSP00000305372:p.Ala46Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Missense_Mutation	SNP	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.A46T	ENST00000305988.4	37	c.136	CCDS4292.1	5	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468427	0.43839	.	.	ENSG00000169252	ENST00000305988	T	0.19806	2.12	5.4	5.4	0.78164	.	0.335334	0.30840	N	0.008762	T	0.18002	0.0432	L	0.27053	0.805	0.43133	D	0.994876	B	0.17038	0.02	B	0.08055	0.003	T	0.04268	-1.0964	10	0.27785	T	0.31	.	19.3757	0.94508	0.0:0.0:1.0:0.0	.	46	P07550	ADRB2_HUMAN	T	46	ENSP00000305372:A46T	ENSP00000305372:A46T	A	+	1	0	ADRB2	148186723	0.991000	0.36638	1.000000	0.80357	0.985000	0.73830	1.894000	0.39768	2.814000	0.96858	0.655000	0.94253	GCC	ADRB2	-	prints_GPCR_Rhodpsn		0.582	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRB2	HGNC	protein_coding	OTTHUMT00000252189.1	G	NM_000024		148206530	+1	no_errors	ENST00000305988	ensembl	human	known	70_37	missense	SNP	1.000	A
AFF2	2334	genome.wustl.edu	37	X	148055117	148055117	+	Silent	SNP	T	T	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chrX:148055117T>A	ENST00000370460.2	+	16	3863	c.3384T>A	c.(3382-3384)tcT>tcA	p.S1128S	AFF2_ENST00000286437.5_Silent_p.S769S|AFF2_ENST00000342251.3_Silent_p.S1095S|AFF2_ENST00000370457.5_Silent_p.S1093S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1128					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCATGTACTCTGAGACTGTGG	0.443																																																	0													151.0	113.0	126.0					X																	148055117		2203	4300	6503	SO:0001819	synonymous_variant	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3384T>A	X.37:g.148055117T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	pfam_TF_AF4/FMR2	p.S1128	ENST00000370460.2	37	c.3384	CCDS14684.1	X																																																																																			AFF2	-	pfam_TF_AF4/FMR2		0.443	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	T	NM_002025		148055117	+1	no_errors	ENST00000370460	ensembl	human	known	70_37	silent	SNP	0.160	A
ATAD3A	55210	genome.wustl.edu	37	1	1455604	1455604	+	Missense_Mutation	SNP	G	G	A	rs566166002		TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:1455604G>A	ENST00000378755.5	+	6	836	c.742G>A	c.(742-744)Gag>Aag	p.E248K	ATAD3A_ENST00000536055.1_Missense_Mutation_p.E121K|ATAD3A_ENST00000378756.3_Missense_Mutation_p.E200K	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	248					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		CGCCAAGGCCGAGCGGGAGAA	0.677													g|||	1	0.000199681	0.0	0.0	5008	,	,		15881	0.001		0.0	False		,,,				2504	0.0																0													36.0	37.0	37.0					1																	1455604		2202	4299	6501	SO:0001583	missense	55210			AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.742G>A	1.37:g.1455604G>A	ENSP00000368030:p.Glu248Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	pfam_DUF3523,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.E248K	ENST00000378755.5	37	c.742	CCDS31.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	16.06|16.06	3.016240|3.016240	0.54468|0.54468	.|.	.|.	ENSG00000197785|ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000536055;ENST00000429957|ENST00000339113	T;T;T|.	0.30448|.	2.45;1.53;2.94|.	4.15|4.15	4.15|4.15	0.48705|0.48705	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);|.	0.053605|.	0.64402|.	D|.	0.000001|.	T|T	0.79263|0.79263	0.4416|0.4416	M|M	0.86740|0.86740	2.835|2.835	0.54753|0.54753	D|D	0.999989|0.999989	D;D|.	0.71674|.	0.994;0.998|.	P;D|.	0.63597|.	0.798;0.916|.	T|T	0.83225|0.83225	-0.0066|-0.0066	10|5	0.48119|.	T|.	0.1|.	.|.	15.7847|15.7847	0.78294|0.78294	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	200;248|.	D2K8Q1;Q9NVI7|.	.;ATD3A_HUMAN|.	K|Q	200;248;121;82|185	ENSP00000368031:E200K;ENSP00000368030:E248K;ENSP00000439290:E121K|.	ENSP00000368030:E248K|.	E|R	+|+	1|2	0|0	ATAD3A|ATAD3A	1445467|1445467	1.000000|1.000000	0.71417|0.71417	0.097000|0.097000	0.21041|0.21041	0.034000|0.034000	0.12701|0.12701	9.338000|9.338000	0.96553|0.96553	2.018000|2.018000	0.59344|0.59344	0.561000|0.561000	0.74099|0.74099	GAG|CGA	ATAD3A	-	pfam_DUF3523		0.677	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	ATAD3A	HGNC	protein_coding	OTTHUMT00000001365.1	G	NM_018188		1455604	+1	no_errors	ENST00000378755	ensembl	human	known	70_37	missense	SNP	0.999	A
CFAP74	85452	genome.wustl.edu	37	1	1896377	1896377	+	IGR	SNP	C	C	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:1896377C>T								TMEM52 (45665 upstream) : C1orf222 (23185 downstream)																							CCTTGGAACTCACGCCCCCAC	0.657																																																	0													39.0	47.0	44.0					1																	1896377		2083	4197	6280	SO:0001628	intergenic_variant	85452																															1.37:g.1896377C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E509K		37	c.1525		1	.	.	.	.	.	.	.	.	.	.	c	14.05	2.418626	0.42918	.	.	ENSG00000142609	ENST00000270720	.	.	.	4.48	4.48	0.54585	.	0.000000	0.64402	D	0.000001	T	0.58552	0.2130	L	0.60455	1.87	0.80722	D	1	B;B	0.31435	0.323;0.027	B;B	0.30495	0.116;0.028	T	0.60326	-0.7285	9	0.38643	T	0.18	-38.3163	15.0164	0.71588	0.0:1.0:0.0:0.0	.	509;509	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	K	509	.	ENSP00000270720:E509K	E	-	1	0	C1orf222	1886237	0.973000	0.33851	0.932000	0.37286	0.217000	0.24651	2.381000	0.44336	2.203000	0.70933	0.556000	0.70494	GAG	C1orf222	-	NULL	0	0.657					C1orf222	HGNC			C			1896377	-1	no_errors	ENST00000270720	ensembl	human	known	70_37	missense	SNP	0.998	T
ASH1L	55870	genome.wustl.edu	37	1	155449314	155449314	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:155449314C>G	ENST00000368346.3	-	3	3986	c.3347G>C	c.(3346-3348)gGa>gCa	p.G1116A	ASH1L_ENST00000392403.3_Missense_Mutation_p.G1116A			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1116					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCTCTGACCTCCACTAGTCCC	0.453																																																	0													83.0	77.0	79.0					1																	155449314		2203	4300	6503	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3347G>C	1.37:g.155449314C>G	ENSP00000357330:p.Gly1116Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.G1116A	ENST00000368346.3	37	c.3347		1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403729	0.62288	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.94330	-3.4;-3.39	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.94000	0.8078	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	D	0.94595	0.7791	10	0.62326	D	0.03	.	18.2607	0.90034	0.0:1.0:0.0:0.0	.	1116;1116	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	A	1116	ENSP00000357330:G1116A;ENSP00000376204:G1116A	ENSP00000357330:G1116A	G	-	2	0	ASH1L	153715938	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.487000	0.66863	2.645000	0.89757	0.591000	0.81541	GGA	ASH1L	-	NULL		0.453	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	C	NM_018489		155449314	-1	no_errors	ENST00000368346	ensembl	human	known	70_37	missense	SNP	1.000	G
AHCTF1	25909	genome.wustl.edu	37	1	247031024	247031024	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:247031024A>G	ENST00000391829.2	-	25	3301	c.3178T>C	c.(3178-3180)Tct>Cct	p.S1060P	AHCTF1_ENST00000366508.1_Missense_Mutation_p.S1095P|AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1069P|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1060	Disordered. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CCAATTTTAGATAACACATTG	0.363																																					Colon(145;197 1800 4745 15099 26333)												0													131.0	125.0	127.0					1																	247031024		2203	4297	6500	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3178T>C	1.37:g.247031024A>G	ENSP00000375705:p.Ser1060Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.S1069P	ENST00000391829.2	37	c.3205		1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.572522	0.65765	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.78707	-1.2;-1.2;-1.2	4.77	4.77	0.60923	.	0.210837	0.41712	D	0.000826	D	0.86234	0.5884	M	0.70275	2.135	0.43430	D	0.995594	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.973	D	0.85420	0.1142	10	0.33940	T	0.23	-20.1087	14.6034	0.68460	1.0:0.0:0.0:0.0	.	1095;1060	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	P	1095;1069;1060	ENSP00000355464:S1095P;ENSP00000355465:S1069P;ENSP00000375705:S1060P	ENSP00000355465:S1069P	S	-	1	0	AHCTF1	245097647	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.198000	0.58419	1.910000	0.55303	0.377000	0.23210	TCT	AHCTF1	-	NULL		0.363	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		A	NM_015446		247031024	-1	no_errors	ENST00000326225	ensembl	human	known	70_37	missense	SNP	0.997	G
CNTLN	54875	genome.wustl.edu	37	9	17236576	17236576	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr9:17236576C>T	ENST00000380647.3	+	5	923	c.839C>T	c.(838-840)gCa>gTa	p.A280V	CNTLN_ENST00000425824.1_Missense_Mutation_p.A280V|CNTLN_ENST00000262360.5_Missense_Mutation_p.A280V|CNTLN_ENST00000380641.4_Missense_Mutation_p.A280V			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	280					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGCACTGATGCAAAAATAAAG	0.333																																																	0													83.0	82.0	82.0					9																	17236576		1827	4082	5909	SO:0001583	missense	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.839C>T	9.37:g.17236576C>T	ENSP00000370021:p.Ala280Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.A280V	ENST00000380647.3	37	c.839	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	C	8.545	0.874061	0.17395	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	5.64	3.47	0.39725	.	.	.	.	.	T	0.08980	0.0222	L	0.51422	1.61	0.20703	N	0.999868	B;B;P	0.38078	0.386;0.386;0.617	B;B;B	0.33960	0.085;0.085;0.173	T	0.17592	-1.0364	9	0.34782	T	0.22	.	4.7614	0.13110	0.187:0.516:0.2195:0.0774	.	280;280;280	C9J1F9;Q9NXG0-2;Q9NXG0-3	.;.;.	V	280	ENSP00000370021:A280V;ENSP00000392798:A280V;ENSP00000262360:A280V;ENSP00000370015:A280V	ENSP00000262360:A280V	A	+	2	0	CNTLN	17226576	0.996000	0.38824	1.000000	0.80357	0.990000	0.78478	1.117000	0.31234	2.653000	0.90120	0.591000	0.81541	GCA	CNTLN	-	NULL		0.333	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	C	NM_017738		17236576	+1	no_errors	ENST00000380647	ensembl	human	known	70_37	missense	SNP	0.932	T
COQ3	51805	genome.wustl.edu	37	6	99828199	99828200	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr6:99828199_99828200insA	ENST00000254759.3	-	3	275_276	c.251_252insT	c.(250-252)ctgfs	p.L84fs	COQ3_ENST00000369240.1_5'Flank|COQ3_ENST00000479163.1_5'UTR|COQ3_ENST00000369242.1_5'UTR	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	84					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		AAGTACTGTACAGTCTCGCCCA	0.431																																																	0																																										SO:0001589	frameshift_variant	51805			AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"""polyprenyldihydroxybenzoate methyltransferase"""	605196	"""coenzyme Q3 homolog, methyltransferase (yeast)"", ""coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"""			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.252dupT	6.37:g.99828200_99828200dupA	ENSP00000254759:p.Leu84fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Frame_Shift_Ins	INS	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase	p.Y85fs	ENST00000254759.3	37	c.252_251	CCDS5042.1	6																																																																																			COQ3	-	NULL		0.431	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ3	HGNC	protein_coding	OTTHUMT00000041602.1	-	NM_017421		99828200	-1	no_errors	ENST00000254759	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	A
CPNE4	131034	genome.wustl.edu	37	3	131624203	131624203	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr3:131624203G>A	ENST00000512055.1	-	6	2211	c.85C>T	c.(85-87)Cgt>Tgt	p.R29C	CPNE4_ENST00000511604.1_Missense_Mutation_p.R29C|CPNE4_ENST00000512332.1_Missense_Mutation_p.R47C|CPNE4_ENST00000502818.1_Missense_Mutation_p.R47C|CPNE4_ENST00000429747.1_Missense_Mutation_p.R29C			Q96A23	CPNE4_HUMAN	copine IV	29	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CACGCCACACGCAGCTCAACT	0.498																																																	0													89.0	82.0	84.0					3																	131624203		2203	4300	6503	SO:0001583	missense	131034			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.85C>T	3.37:g.131624203G>A	ENSP00000421705:p.Arg29Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNC5|Q8TEX1	Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting	p.R47C	ENST00000512055.1	37	c.139	CCDS3072.1	3	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292997	0.60086	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818;ENST00000505881;ENST00000514999;ENST00000505957	T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.56	4.69	0.59074	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.62708	0.2450	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70016	0.949;0.967	T	0.66232	-0.5975	10	0.72032	D	0.01	-8.3198	8.1152	0.30940	0.0726:0.0:0.6566:0.2708	.	47;29	Q96A23-2;Q96A23	.;CPNE4_HUMAN	C	29;29;47;29;47;29;29;29	ENSP00000421705:R29C;ENSP00000411904:R29C;ENSP00000424853:R47C;ENSP00000423811:R29C;ENSP00000421646:R47C;ENSP00000425506:R29C;ENSP00000427561:R29C;ENSP00000421394:R29C	ENSP00000411904:R29C	R	-	1	0	CPNE4	133106893	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.395000	0.52558	1.352000	0.45808	-0.140000	0.14226	CGT	CPNE4	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.498	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	HGNC	protein_coding	OTTHUMT00000356583.4	G	NM_130808		131624203	-1	no_errors	ENST00000502818	ensembl	human	known	70_37	missense	SNP	1.000	A
CXCR2	3579	genome.wustl.edu	37	2	219000467	219000467	+	Missense_Mutation	SNP	G	G	A	rs200906463		TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr2:219000467G>A	ENST00000318507.2	+	3	1370	c.943G>A	c.(943-945)Gcc>Acc	p.A315T		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	315					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CCTCATCTACGCCTTCATTGG	0.557																																																	0													93.0	91.0	92.0					2																	219000467		2203	4300	6503	SO:0001583	missense	3579			U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.943G>A	2.37:g.219000467G>A	ENSP00000319635:p.Ala315Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXC/IL8_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2/IL8RB,prints_Chemokine_rcpt,prints_Chemokine_CXCR4	p.A315T	ENST00000318507.2	37	c.943	CCDS2408.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.173854	0.94807	.	.	ENSG00000180871	ENST00000318507	T	0.38240	1.15	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.59128	0.2171	M	0.75447	2.3	0.58432	D	0.999998	D	0.89917	1.0	P	0.62813	0.907	T	0.59804	-0.7385	9	.	.	.	.	17.9176	0.88957	0.0:0.0:1.0:0.0	.	315	P25025	CXCR2_HUMAN	T	315	ENSP00000319635:A315T	.	A	+	1	0	CXCR2	218708712	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	7.918000	0.87506	2.529000	0.85273	0.456000	0.33151	GCC	CXCR2	-	prints_GPCR_Rhodpsn		0.557	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR2	HGNC	protein_coding	OTTHUMT00000256772.2	G	NM_001557		219000467	+1	no_errors	ENST00000318507	ensembl	human	known	70_37	missense	SNP	1.000	A
DMD	1756	genome.wustl.edu	37	X	32408240	32408240	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chrX:32408240T>G	ENST00000357033.4	-	31	4498	c.4292A>C	c.(4291-4293)aAt>aCt	p.N1431T	DMD_ENST00000378677.2_Missense_Mutation_p.N1427T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1431	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTCCCCTGATTATGTTTCTT	0.393																																																	0													173.0	137.0	149.0					X																	32408240		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4292A>C	X.37:g.32408240T>G	ENSP00000354923:p.Asn1431Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.N1431T	ENST00000357033.4	37	c.4292	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	T	7.575	0.667526	0.14710	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.17854	2.25;2.25	5.64	3.17	0.36434	.	0.174584	0.25762	U	0.028478	T	0.12433	0.0302	L	0.50333	1.59	0.80722	D	1	B;B;B;B;B	0.32781	0.0;0.384;0.0;0.0;0.0	B;B;B;B;B	0.28305	0.002;0.088;0.001;0.001;0.001	T	0.09314	-1.0680	10	0.14252	T	0.57	.	7.3439	0.26652	0.0:0.076:0.1436:0.7804	.	1423;1431;1427;90;87	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	T	1423;90;87;1427;1431;1431;1308	ENSP00000367948:N1427T;ENSP00000354923:N1431T	ENSP00000354923:N1431T	N	-	2	0	DMD	32318161	1.000000	0.71417	0.905000	0.35620	0.967000	0.64934	2.368000	0.44222	0.804000	0.34136	0.412000	0.27726	AAT	DMD	-	pirsf_Dystrophin/utrophin		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	T	NM_004006		32408240	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	0.966	G
DNAH6	1768	genome.wustl.edu	37	2	84942753	84942754	+	Splice_Site	INS	-	-	A	rs541953058	byFrequency	TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr2:84942753_84942754insA	ENST00000237449.6	+	57	9619		c.e57+2		DNAH6_ENST00000389394.3_Splice_Site			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GTTGTTAAGGTAAAAAAACAGG	0.381													?|AAAAAAA|AAAAAAAA|unsure	3	0.000599042	0.0008	0.0014	5008	,	,		19504	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001630	splice_region_variant	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.9611+2->A	2.37:g.84942760_84942760dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Splice_Site	INS	-	e57+2	ENST00000237449.6	37	c.9611+2_9611+1	CCDS46348.1	2																																																																																			DNAH6	-	-		0.381	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	-	NM_001370	Intron	84942754	+1	no_errors	ENST00000237449	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.967	A
NR2F2-AS1	644192	genome.wustl.edu	37	15	96831368	96831368	+	Missense_Mutation	SNP	G	G	A	rs536710609	byFrequency	TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr15:96831368G>A	ENST00000378936.1	-	1	292	c.293C>T	c.(292-294)tCc>tTc	p.S98F	NR2F2-AS1_ENST00000502125.2_RNA|NR2F2-AS1_ENST00000560010.1_RNA|NR2F2-AS1_ENST00000561344.1_RNA|NR2F2-AS1_ENST00000557863.1_RNA|NR2F2-AS1_ENST00000560800.1_RNA|NR2F2-AS1_ENST00000560170.1_RNA|NR2F2-AS1_ENST00000558935.1_RNA|NR2F2-AS1_ENST00000558929.1_RNA																							TTCCCCCTGGGATAGAGCATT	0.493													G|||	21	0.00419329	0.0159	0.0	5008	,	,		15849	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001583	missense	0																														ENST00000378936.1:c.293C>T	15.37:g.96831368G>A	ENSP00000368218:p.Ser98Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S98F	ENST00000378936.1	37	c.293		15	.	.	.	.	.	.	.	.	.	.	G	6.722	0.501942	0.12822	.	.	ENSG00000205148	ENST00000378936	.	.	.	5.59	1.57	0.23409	.	.	.	.	.	T	0.45316	0.1336	.	.	.	.	.	.	.	.	.	.	.	.	T	0.54549	-0.8277	4	0.87932	D	0	.	4.7591	0.13099	0.2558:0.158:0.5862:0.0	.	.	.	.	F	98	.	ENSP00000368218:S98F	S	-	2	0	AC016251.1	94632372	0.002000	0.14202	0.001000	0.08648	0.092000	0.18411	0.675000	0.25232	0.402000	0.25451	0.650000	0.86243	TCC	AC016251.1	-	NULL		0.493	AC016251.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000205148	Clone_based_ensembl_gene	protein_coding		G			96831368	-1	no_errors	ENST00000378936	ensembl	human	known	70_37	missense	SNP	0.000	A
MT-ND1	4535	genome.wustl.edu	37	M	1342	1342	+	5'Flank	SNP	C	C	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chrM:1342C>T	ENST00000361390.2	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TL1_ENST00000386347.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1						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 membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAAGGTGTAGCCCATGAGGTG	0.463																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886			M.37:g.1342C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	C0JKH6|Q37523	RNA	SNP	-	NULL	ENST00000361390.2	37	NULL		MT																																																																																			J01415.23	-	-		0.463	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000211459	Clone_based_ensembl_gene	protein_coding		C	YP_003024026		1342	+1	no_errors	ENST00000389680	ensembl	human	known	70_37	rna	SNP	NULL	T
MT-ND1	4535	genome.wustl.edu	37	M	1365	1365	+	5'Flank	SNP	A	A	G			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chrM:1365A>G	ENST00000361390.2	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TL1_ENST00000386347.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1						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 membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAGAAATGGGCTACATTTTCT	0.458																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886			M.37:g.1365A>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	C0JKH6|Q37523	RNA	SNP	-	NULL	ENST00000361390.2	37	NULL		MT																																																																																			J01415.23	-	-		0.458	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000211459	Clone_based_ensembl_gene	protein_coding		A	YP_003024026		1365	+1	no_errors	ENST00000389680	ensembl	human	known	70_37	rna	SNP	NULL	G
AC055873.1	0	genome.wustl.edu	37	15	97634512	97634512	+	RNA	SNP	A	A	C			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr15:97634512A>C	ENST00000401129.1	-	0	70																											ttggtgcaaaagttattgcgg	0.338																																																	0																																												0																															15.37:g.97634512A>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000401129.1	37	NULL		15																																																																																			AC055873.1	-	-		0.338	AC055873.1-201	NOVEL	basic	miRNA	ENSG00000215948	Clone_based_ensembl_gene	miRNA		A			97634512	-1	no_errors	ENST00000401129	ensembl	human	novel	70_37	rna	SNP	0.132	C
ZNF423	23090	genome.wustl.edu	37	16	49713203	49713203	+	Intron	SNP	C	C	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr16:49713203C>T	ENST00000561648.1	-	4	331				ZNF423_ENST00000262383.2_Intron|ZNF423_ENST00000563137.2_Intron|AC007339.1_ENST00000408207.1_RNA|ZNF423_ENST00000562520.1_Intron|ZNF423_ENST00000562871.1_Intron	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423						cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				tggcgggagccggaaacaggt	0.667																																																	0																																										SO:0001627	intron_variant	0			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.278-40418G>A	16.37:g.49713203C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O94860|Q76N04|Q9NZ13	RNA	SNP	-	NULL	ENST00000561648.1	37	NULL	CCDS32445.1	16																																																																																			AC007339.1	-	-		0.667	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000221134	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000423258.1	C	NM_015069		49713203	+1	no_errors	ENST00000408207	ensembl	human	novel	70_37	rna	SNP	0.001	T
LOC728660	728660	genome.wustl.edu	37	X	139099535	139099535	+	lincRNA	SNP	C	C	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chrX:139099535C>A	ENST00000417426.1	+	0	109																											CAATTCTAAGCACGAAAAAGC	0.418																																																	0																																												0																															X.37:g.139099535C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000417426.1	37	NULL		X																																																																																			RP11-364B14.1	-	-		0.418	RP11-364B14.1-001	KNOWN	basic	lincRNA	ENSG00000233145	Clone_based_vega_gene	lincRNA	OTTHUMT00000058573.1	C			139099535	+1	no_errors	ENST00000417426	ensembl	human	known	70_37	rna	SNP	0.001	A
Unknown	0	genome.wustl.edu	37	7	19834	19834	+	IGR	SNP	C	C	G			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr7:19834C>G								None (None upstream) : AC093627.7 (51137 downstream)																							gctttcagtacaatataccgg	0.428																																																	0																																										SO:0001628	intergenic_variant	0																															7.37:g.19834C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		7																																																																																			AC093627.6	-	-	0	0.428					ENSG00000244758	Clone_based_vega_gene			C			19834	-1	no_errors	ENST00000480075	ensembl	human	known	70_37	rna	SNP	0.002	G
SNORA70	26778	genome.wustl.edu	37	18	3025532	3025533	+	RNA	INS	-	-	A	rs372163111		TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr18:3025532_3025533insA	ENST00000516449.1	-	0	31_32									small nucleolar RNA, H/ACA box 70																		TACAACTTCTTAAAAAAAAAAt	0.475																																																	0																																												0			Y11164		Xq28	2013-09-05	2006-04-05	2006-04-05	ENSG00000207165	ENSG00000207165		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	10231	non-coding RNA	RNA, small nucleolar			"""RNA, U70 small nucleolar"""	RNU70		9106664, 15199136	Standard	NR_000011		Approved	U70, DXS648E	uc021raw.1				18.37:g.3025542_3025542dupA		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000516449.1	37	NULL		18																																																																																			SNORA70	-	-		0.475	SNORA70.21-201	NOVEL	basic	snoRNA	ENSG00000252258	RFAM	snoRNA		-	NR_000011		3025533	-1	no_errors	ENST00000516449	ensembl	human	novel	70_37	rna	INS	0.000:0.000	A
EP300	2033	genome.wustl.edu	37	22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399	Acetyl-CoA binding. {ECO:0000269|PubMed:24819397}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with histone. {ECO:0000269|PubMed:18273021}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	7	Substitution - Missense(7)	lung(3)|upper_aerodigestive_tract(1)|stomach(1)|central_nervous_system(1)|cervix(1)											98.0	93.0	95.0					22																	41565529		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4195G>A	22.37:g.41565529G>A	ENSP00000263253:p.Asp1399Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.D1399N	ENST00000263253.7	37	c.4195	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998529	0.93227	.	.	ENSG00000100393	ENST00000263253	D	0.99422	-5.88	5.55	5.55	0.83447	.	0.000000	0.46758	D	0.000275	D	0.99743	0.9898	H	0.96633	3.855	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.97288	0.9922	10	0.87932	D	0	-10.979	19.5071	0.95124	0.0:0.0:1.0:0.0	.	1399	Q09472	EP300_HUMAN	N	1399	ENSP00000263253:D1399N	ENSP00000263253:D1399N	D	+	1	0	EP300	39895475	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.760000	0.98935	2.617000	0.88574	0.557000	0.71058	GAT	EP300	-	pfam_Histone_H3-K56_AcTrfase_RTT109		0.338	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429		41565529	+1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	1.000	A
ESRP2	80004	genome.wustl.edu	37	16	68265731	68265731	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr16:68265731G>A	ENST00000565858.1	-	10	1389	c.1303C>T	c.(1303-1305)Cgg>Tgg	p.R435W	RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.R425W	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	435	RRM 2.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GCAGTGCTCCGGAAGAGTTCA	0.617																																																	0													49.0	47.0	48.0					16																	68265731		2198	4300	6498	SO:0001583	missense	80004			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1303C>T	16.37:g.68265731G>A	ENSP00000454554:p.Arg435Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom	p.R435W	ENST00000565858.1	37	c.1303		16	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548824	0.65311	.	.	ENSG00000103067	ENST00000473183	T	0.28666	1.6	5.84	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.74466	-0.3656	10	0.87932	D	0	-23.2915	13.9976	0.64411	0.0:0.0:0.4206:0.5794	.	435;425	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	W	425	ENSP00000418748:R425W	ENSP00000418748:R425W	R	-	1	2	ESRP2	66823232	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.807000	0.47955	0.746000	0.32786	0.561000	0.74099	CGG	ESRP2	-	NULL		0.617	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	ESRP2	HGNC	protein_coding	OTTHUMT00000433083.1	G	NM_024939		68265731	-1	no_errors	ENST00000565858	ensembl	human	known	70_37	missense	SNP	1.000	A
EVI5	7813	genome.wustl.edu	37	1	93160919	93160919	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:93160919G>T	ENST00000370331.1	-	7	998	c.989C>A	c.(988-990)aCa>aAa	p.T330K	EVI5_ENST00000540033.1_Missense_Mutation_p.T330K|EVI5_ENST00000543509.1_Missense_Mutation_p.T330K	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	330	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TGGAAAAGTTGTAAGAAAGAT	0.398																																																	0													114.0	116.0	115.0					1																	93160919		2203	4300	6503	SO:0001583	missense	7813			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.989C>A	1.37:g.93160919G>T	ENSP00000359356:p.Thr330Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.T330K	ENST00000370331.1	37	c.989	CCDS30774.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210047	0.79240	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.21191	2.02;2.02;2.02	5.94	5.94	0.96194	Rab-GAP/TBC domain (4);	0.091610	0.85682	D	0.000000	T	0.20088	0.0483	L	0.57536	1.79	0.80722	D	1	B;B	0.23806	0.074;0.091	B;B	0.32022	0.085;0.139	T	0.02232	-1.1191	10	0.66056	D	0.02	-14.6839	20.3552	0.98837	0.0:0.0:1.0:0.0	.	330;330	F5H4R0;O60447	.;EVI5_HUMAN	K	330	ENSP00000359356:T330K;ENSP00000440826:T330K;ENSP00000445019:T330K	ENSP00000359356:T330K	T	-	2	0	EVI5	92933507	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.793000	0.99091	2.812000	0.96745	0.557000	0.71058	ACA	EVI5	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.398	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVI5	HGNC	protein_coding	OTTHUMT00000030047.1	G	NM_005665		93160919	-1	no_errors	ENST00000543509	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM21A	387680	genome.wustl.edu	37	10	51853633	51853633	+	Missense_Mutation	SNP	C	C	T	rs199520696	byFrequency	TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr10:51853633C>T	ENST00000282633.5	+	13	1181	c.1136C>T	c.(1135-1137)aCg>aTg	p.T379M	FAM21A_ENST00000314664.7_Missense_Mutation_p.T379M|FAM21A_ENST00000399339.2_Missense_Mutation_p.T291M|FAM21A_ENST00000351071.6_Missense_Mutation_p.T379M	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	379					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						GACCTCTTCACGGAAGCCCCC	0.488																																																	0													1.0	1.0	1.0					10																	51853633		353	936	1289	SO:0001583	missense	387680			BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"""family with sequence similarity 21, member B"""	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.1136C>T	10.37:g.51853633C>T	ENSP00000282633:p.Thr379Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A3S2|A2A3U6|Q6DHY0	Missense_Mutation	SNP	NULL	p.T379M	ENST00000282633.5	37	c.1136	CCDS41527.1	10	.	.	.	.	.	.	.	.	.	.	C	6.414	0.444490	0.12164	.	.	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000434114;ENST00000282633;ENST00000399339	.	.	.	3.88	-5.37	0.02681	.	0.781535	0.12699	N	0.446536	T	0.14527	0.0351	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.29253	0.05;0.02;0.005;0.02;0.239	B;B;B;B;B	0.16722	0.013;0.013;0.003;0.013;0.016	T	0.05767	-1.0865	9	0.42905	T	0.14	2.3495	2.2948	0.04147	0.3714:0.2592:0.2739:0.0955	.	379;379;291;379;273	E7ESD2;Q641Q2-2;F8W7U3;Q641Q2;Q5T1D7	.;.;.;FA21A_HUMAN;.	M	379;379;273;379;291	.	ENSP00000282633:T379M	T	+	2	0	FAM21A	51523639	0.024000	0.19004	0.096000	0.21009	0.033000	0.12548	-0.884000	0.04166	-1.796000	0.01253	-1.109000	0.02080	ACG	FAM21A	-	NULL		0.488	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM21A	HGNC	protein_coding	OTTHUMT00000276917.2	C	NM_001005751		51853633	+1	no_errors	ENST00000282633	ensembl	human	known	70_37	missense	SNP	0.370	T
FMO1	2326	genome.wustl.edu	37	1	171239751	171239751	+	Intron	SNP	T	T	G			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:171239751T>G	ENST00000354841.4	+	2	452				FMO1_ENST00000367750.3_Intron|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Intron	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1						NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	AATTATTTCCTATAAGCTGCA	0.328																																																	0																																										SO:0001627	intron_variant	2326			M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.321+2881T>G	1.37:g.171239751T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K248|B7Z3P4|Q5QPT2|Q9UJC2	RNA	SNP	-	NULL	ENST00000354841.4	37	NULL	CCDS1294.1	1																																																																																			FMO1	-	-		0.328	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO1	HGNC	protein_coding	OTTHUMT00000086212.1	T	NM_002021		171239751	+1	no_errors	ENST00000469112	ensembl	human	known	70_37	rna	SNP	0.028	G
FTHL17	53940	genome.wustl.edu	37	X	31089601	31089601	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chrX:31089601C>T	ENST00000359202.3	-	1	569	c.470G>A	c.(469-471)cGc>cAc	p.R157H		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	157	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						ACAAATCTTGCGCAGGTTGCT	0.612																																																	0													62.0	56.0	58.0					X																	31089601		2202	4300	6502	SO:0001583	missense	53940			AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.470G>A	X.37:g.31089601C>T	ENSP00000368207:p.Arg157His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NT24|Q6NTE2	Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron	p.R157H	ENST00000359202.3	37	c.470	CCDS14227.1	X	.	.	.	.	.	.	.	.	.	.	C	11.15	1.552878	0.27739	.	.	ENSG00000132446	ENST00000359202	T	0.65364	-0.15	3.95	-0.999	0.10208	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.623726	0.16775	N	0.200054	T	0.41581	0.1165	L	0.41906	1.305	0.09310	N	1	B	0.29627	0.252	B	0.26614	0.071	T	0.20773	-1.0265	10	0.38643	T	0.18	.	0.9246	0.01322	0.1618:0.2855:0.156:0.3967	.	157	Q9BXU8	FHL17_HUMAN	H	157	ENSP00000368207:R157H	ENSP00000368207:R157H	R	-	2	0	FTHL17	30999522	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.020000	0.12525	-0.392000	0.07751	0.544000	0.68410	CGC	FTHL17	-	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron		0.612	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTHL17	HGNC	protein_coding	OTTHUMT00000056178.1	C	NM_031894		31089601	-1	no_errors	ENST00000359202	ensembl	human	known	70_37	missense	SNP	0.001	T
GAS6	2621	genome.wustl.edu	37	13	114537555	114537555	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr13:114537555A>T	ENST00000327773.6	-	8	949	c.803T>A	c.(802-804)cTc>cAc	p.L268H	GAS6_ENST00000450766.1_5'UTR|GAS6_ENST00000355761.4_Missense_Mutation_p.L214H|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Missense_Mutation_p.L268H|GAS6_ENST00000418959.3_5'Flank	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	268	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GGACAGCTTGAGGCCCCCACG	0.697																																																	0													31.0	27.0	28.0					13																	114537555		2175	4278	6453	SO:0001583	missense	2621				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.803T>A	13.37:g.114537555A>T	ENSP00000331831:p.Leu268His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.L268H	ENST00000327773.6	37	c.803	CCDS45072.1	13	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352771	0.61293	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000327773	D;D;D	0.90955	-2.76;-2.29;-2.29	4.59	4.59	0.56863	.	.	.	.	.	D	0.90930	0.7149	L	0.28649	0.875	0.80722	D	1	D	0.69078	0.997	D	0.63192	0.912	D	0.91099	0.4913	9	0.46703	T	0.11	-23.561	13.965	0.64202	1.0:0.0:0.0:0.0	.	268	Q14393-2	.	H	268;214;268	ENSP00000349962:L268H;ENSP00000348003:L214H;ENSP00000331831:L268H	ENSP00000331831:L268H	L	-	2	0	GAS6	113576388	0.992000	0.36948	1.000000	0.80357	0.438000	0.31896	2.959000	0.49153	1.696000	0.51158	0.374000	0.22700	CTC	GAS6	-	superfamily_ConA-like_lec_gl_sf,smart_EGF-like_Ca-bd,smart_EG-like_dom		0.697	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAS6	HGNC	protein_coding	OTTHUMT00000045946.2	A	NM_000820		114537555	-1	no_errors	ENST00000357389	ensembl	human	known	70_37	missense	SNP	1.000	T
GOLGA4	2803	genome.wustl.edu	37	3	37369055	37369055	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr3:37369055G>A	ENST00000361924.2	+	14	6052	c.5678G>A	c.(5677-5679)aGa>aAa	p.R1893K	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R1915K	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1893	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATGGATGGAAGAAATAAACCC	0.368																																																	0													73.0	75.0	74.0					3																	37369055		2203	4300	6503	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5678G>A	3.37:g.37369055G>A	ENSP00000354486:p.Arg1893Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.R1893K	ENST00000361924.2	37	c.5678	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	G	0.042	-1.282098	0.01398	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.22539	1.95;1.95;1.95	4.83	2.4	0.29515	.	0.739154	0.11120	N	0.597519	T	0.04543	0.0124	N	0.00413	-1.525	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.37056	-0.9722	10	0.02654	T	1	.	7.8886	0.29665	0.7048:0.0:0.2952:0.0	.	1893;1893;1915;1893	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	K	1893;1915;1764	ENSP00000354486:R1893K;ENSP00000349305:R1915K;ENSP00000405842:R1764K	ENSP00000349305:R1915K	R	+	2	0	GOLGA4	37344059	0.998000	0.40836	0.007000	0.13788	0.601000	0.36947	1.590000	0.36654	0.716000	0.32124	-0.362000	0.07510	AGA	GOLGA4	-	NULL		0.368	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	G	NM_002078		37369055	+1	no_errors	ENST00000361924	ensembl	human	known	70_37	missense	SNP	0.009	A
GOLGA8A	23015	genome.wustl.edu	37	15	34673973	34673973	+	Missense_Mutation	SNP	C	C	T	rs347879	byFrequency	TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr15:34673973C>T	ENST00000359187.4	-	15	1602	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	MIR1233-1_ENST00000408722.1_RNA|GOLGA8A_ENST00000543376.1_Missense_Mutation_p.R370Q|GOLGA8A_ENST00000432566.2_Missense_Mutation_p.R543Q|GOLGA8A_ENST00000360553.3_Missense_Mutation_p.R513Q	NM_181077.3	NP_851422.1	A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	541						Golgi apparatus (GO:0005794)|membrane (GO:0016020)							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		AGCAGGGTTCCGGGCAGCGGC	0.672													c|||	2007	0.400759	0.1293	0.4568	5008	,	,		9978	0.5377		0.4632	False		,,,				2504	0.5225																0													1.0	1.0	1.0					15																	34673973		900	1865	2765	SO:0001583	missense	23015			BX648160	CCDS10038.1	15q14	2011-10-25	2010-02-12		ENSG00000175265	ENSG00000175265			31972	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 8A"""			10660574, 10677249	Standard	NM_181077		Approved	GM88, GOLGIN-67	uc001zii.3	A7E2F4	OTTHUMG00000129447	ENST00000359187.4:c.1538G>A	15.37:g.34673973C>T	ENSP00000352111:p.Arg513Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MCY9|B7ZMK5|O94937|Q52M46|Q68DK6|Q9NZG8|Q9NZW0|Q9NZW3	Missense_Mutation	SNP	NULL	p.R543Q	ENST00000359187.4	37	c.1628	CCDS10038.1	15	.	.	.	.	.	.	.	.	.	.	c	0.020	-1.435595	0.01108	.	.	ENSG00000175265	ENST00000359187;ENST00000360553;ENST00000432566;ENST00000543376	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	0.514	-1.03	0.10102	.	.	.	.	.	T	0.01835	0.0058	N	0.00038	-2.52	0.58432	P	9.000000000036756E-6	B;B	0.17852	0.014;0.024	B;B	0.09377	0.002;0.004	T	0.41574	-0.9501	8	0.02654	T	1	.	4.0142	0.09636	0.0:0.2771:0.0:0.7229	.	513;541	A7E2F4-3;A7E2F4	.;GOG8A_HUMAN	Q	513;513;543;370	ENSP00000352111:R513Q;ENSP00000353755:R513Q;ENSP00000402791:R543Q;ENSP00000438613:R370Q	ENSP00000352111:R513Q	R	-	2	0	GOLGA8A	32461265	0.615000	0.27026	0.267000	0.24556	0.124000	0.20399	0.636000	0.24644	-0.402000	0.07633	-0.745000	0.03516	CGG	GOLGA8A	-	NULL		0.672	GOLGA8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA8A	HGNC	protein_coding	OTTHUMT00000251830.2	C	NM_181076		34673973	-1	no_errors	ENST00000432566	ensembl	human	known	70_37	missense	SNP	0.998	T
GOLGA8A	23015	genome.wustl.edu	37	15	34674006	34674006	+	Missense_Mutation	SNP	C	C	T	rs238639	byFrequency	TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr15:34674006C>T	ENST00000359187.4	-	15	1569	c.1505G>A	c.(1504-1506)aGc>aAc	p.S502N	MIR1233-1_ENST00000408722.1_RNA|GOLGA8A_ENST00000543376.1_Missense_Mutation_p.S359N|GOLGA8A_ENST00000432566.2_Missense_Mutation_p.S532N|GOLGA8A_ENST00000360553.3_Missense_Mutation_p.S502N	NM_181077.3	NP_851422.1	A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	530						Golgi apparatus (GO:0005794)|membrane (GO:0016020)							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GTGCCCCTCGCTGTAGCTGCC	0.677																																																	0													1.0	1.0	1.0					15																	34674006		324	759	1083	SO:0001583	missense	23015			BX648160	CCDS10038.1	15q14	2011-10-25	2010-02-12		ENSG00000175265	ENSG00000175265			31972	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 8A"""			10660574, 10677249	Standard	NM_181077		Approved	GM88, GOLGIN-67	uc001zii.3	A7E2F4	OTTHUMG00000129447	ENST00000359187.4:c.1505G>A	15.37:g.34674006C>T	ENSP00000352111:p.Ser502Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MCY9|B7ZMK5|O94937|Q52M46|Q68DK6|Q9NZG8|Q9NZW0|Q9NZW3	Missense_Mutation	SNP	NULL	p.S532N	ENST00000359187.4	37	c.1595	CCDS10038.1	15	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.496816	0.00159	.	.	ENSG00000175265	ENST00000359187;ENST00000360553;ENST00000432566;ENST00000543376	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	0.514	-1.03	0.10102	.	.	.	.	.	T	0.02455	0.0075	N	0.00197	-1.87	0.80722	P	0.0	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.42137	-0.9469	8	0.02654	T	1	.	4.1473	0.10222	0.0:0.2623:0.0:0.7377	.	502;530	A7E2F4-3;A7E2F4	.;GOG8A_HUMAN	N	502;502;532;359	ENSP00000352111:S502N;ENSP00000353755:S502N;ENSP00000402791:S532N;ENSP00000438613:S359N	ENSP00000352111:S502N	S	-	2	0	GOLGA8A	32461298	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	1.565000	0.36386	-0.443000	0.07180	-0.982000	0.02568	AGC	GOLGA8A	-	NULL		0.677	GOLGA8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA8A	HGNC	protein_coding	OTTHUMT00000251830.2	C	NM_181076		34674006	-1	no_errors	ENST00000432566	ensembl	human	known	70_37	missense	SNP	0.185	T
HTR2C	3358	genome.wustl.edu	37	X	114141190	114141190	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chrX:114141190G>A	ENST00000276198.1	+	6	1317	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	HTR2C_ENST00000371950.3_Missense_Mutation_p.R165Q|HTR2C_ENST00000371951.1_Missense_Mutation_p.E197K	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	197					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACTGAGGGACGAAGAAAAGGT	0.443																																																	0													177.0	148.0	158.0					X																	114141190		2203	4300	6503	SO:0001583	missense	3358				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.589G>A	X.37:g.114141190G>A	ENSP00000276198:p.Glu197Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.E197K	ENST00000276198.1	37	c.589	CCDS14564.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.52|13.52	2.261715|2.261715	0.39995|0.39995	.|.	.|.	ENSG00000147246|ENSG00000147246	ENST00000276198;ENST00000371951|ENST00000371950	T;T|T	0.37915|0.54675	1.17;1.17|0.56	4.87|4.87	3.93|3.93	0.45458|0.45458	GPCR, rhodopsin-like superfamily (1);|.	0.193543|.	0.45361|.	D|.	0.000371|.	T|T	0.39835|0.39835	0.1093|0.1093	L|L	0.28649|0.28649	0.875|0.875	0.22435|0.22435	N|N	0.999108|0.999108	B|B	0.28291|0.25272	0.206|0.122	B|B	0.29785|0.16289	0.107|0.015	T|T	0.21690|0.21690	-1.0238|-1.0238	10|9	0.06236|0.41790	T|T	0.91|0.15	.|.	11.5057|11.5057	0.50466|0.50466	0.0:0.1789:0.8211:0.0|0.0:0.1789:0.8211:0.0	.|.	197|165	P28335|B1AMW4	5HT2C_HUMAN|.	K|Q	197|165	ENSP00000276198:E197K;ENSP00000361019:E197K|ENSP00000361018:R165Q	ENSP00000276198:E197K|ENSP00000361018:R165Q	E|R	+|+	1|2	0|0	HTR2C|HTR2C	114047446|114047446	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.966000|0.966000	0.64601|0.64601	2.318000|2.318000	0.43779|0.43779	2.135000|2.135000	0.66039|0.66039	0.538000|0.538000	0.68166|0.68166	GAA|CGA	HTR2C	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.443	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2C	HGNC	protein_coding	OTTHUMT00000057962.1	G	NM_000868		114141190	+1	no_errors	ENST00000276198	ensembl	human	known	70_37	missense	SNP	0.898	A
IPO13	9670	genome.wustl.edu	37	1	44424143	44424143	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:44424143G>T	ENST00000372343.3	+	10	2422	c.1760G>T	c.(1759-1761)tGc>tTc	p.C587F		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	587					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACAAGCCAGTGCATGTGGCTG	0.522																																																	0													87.0	92.0	90.0					1																	44424143		2203	4300	6503	SO:0001583	missense	9670			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1760G>T	1.37:g.44424143G>T	ENSP00000361418:p.Cys587Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.C587F	ENST00000372343.3	37	c.1760	CCDS503.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427479	0.83667	.	.	ENSG00000117408	ENST00000372343	T	0.66280	-0.2	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71962	0.3402	L	0.50333	1.59	0.80722	D	1	D	0.64830	0.994	P	0.56278	0.795	T	0.70346	-0.4897	10	0.46703	T	0.11	-21.7275	20.0817	0.97778	0.0:0.0:1.0:0.0	.	587	O94829	IPO13_HUMAN	F	587	ENSP00000361418:C587F	ENSP00000361418:C587F	C	+	2	0	IPO13	44196730	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.342000	0.97044	2.743000	0.94032	0.650000	0.86243	TGC	IPO13	-	superfamily_ARM-type_fold		0.522	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	HGNC	protein_coding	OTTHUMT00000022846.1	G	NM_014652		44424143	+1	no_errors	ENST00000372343	ensembl	human	known	70_37	missense	SNP	1.000	T
IRF8	3394	genome.wustl.edu	37	16	85952378	85952378	+	Silent	SNP	C	C	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr16:85952378C>A	ENST00000268638.5	+	7	1379	c.957C>A	c.(955-957)gtC>gtA	p.V319V	IRF8_ENST00000562492.1_Silent_p.V115V	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	319					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				ATGAGGTGGTCCAGGTCTTCG	0.607																																																	0													39.0	41.0	41.0					16																	85952378		2198	4300	6498	SO:0001819	synonymous_variant	3394			M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.957C>A	16.37:g.85952378C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV82	Silent	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.V319	ENST00000268638.5	37	c.957	CCDS10956.1	16																																																																																			IRF8	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain		0.607	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF8	HGNC	protein_coding	OTTHUMT00000269100.2	C	NM_002163		85952378	+1	no_errors	ENST00000268638	ensembl	human	known	70_37	silent	SNP	1.000	A
KAAG1	353219	genome.wustl.edu	37	6	24358086	24358086	+	Silent	SNP	C	C	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr6:24358086C>T	ENST00000274766.1	+	1	956	c.219C>T	c.(217-219)aaC>aaT	p.N73N	DCDC2_ENST00000378454.3_5'UTR	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	73					immune response (GO:0006955)					central_nervous_system(1)|lung(1)|prostate(1)	3						CTGAAACGAACGAGAAACTGA	0.652																																																	0													24.0	28.0	27.0					6																	24358086		2157	4229	6386	SO:0001819	synonymous_variant	353219			AF181722	CCDS4551.1	6p22.1	2010-11-23			ENSG00000146049	ENSG00000146049			21031	protein-coding gene	gene with protein product		608211				10601354	Standard	NM_181337		Approved	RU2, RU2AS	uc003ndz.1	Q9UBP8	OTTHUMG00000014354	ENST00000274766.1:c.219C>T	6.37:g.24358086C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.N73	ENST00000274766.1	37	c.219	CCDS4551.1	6																																																																																			KAAG1	-	NULL		0.652	KAAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAAG1	HGNC	protein_coding	OTTHUMT00000040001.1	C			24358086	+1	no_errors	ENST00000274766	ensembl	human	known	70_37	silent	SNP	0.000	T
KCND3	3752	genome.wustl.edu	37	1	112525203	112525203	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:112525203C>T	ENST00000315987.2	-	2	625	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	KCND3_ENST00000369697.1_Missense_Mutation_p.R49Q|KCND3_ENST00000302127.4_Missense_Mutation_p.R49Q	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	49					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTGGAACCTCCGCCCACTCAC	0.637																																																	0													72.0	68.0	69.0					1																	112525203		2203	4300	6503	SO:0001583	missense	3752			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.146G>A	1.37:g.112525203C>T	ENSP00000319591:p.Arg49Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.R49Q	ENST00000315987.2	37	c.146	CCDS843.1	1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.868260	0.51588	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	T;T;T	0.42513	0.97;0.97;0.97	5.41	5.41	0.78517	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.26048	0.0635	L	0.48362	1.52	0.80722	D	1	P;P	0.42010	0.768;0.592	B;B	0.35039	0.194;0.089	T	0.11916	-1.0568	10	0.48119	T	0.1	.	18.7773	0.91916	0.0:1.0:0.0:0.0	.	49;49	Q14D71;Q9UK17	.;KCND3_HUMAN	Q	49	ENSP00000358711:R49Q;ENSP00000319591:R49Q;ENSP00000306923:R49Q	ENSP00000306923:R49Q	R	-	2	0	KCND3	112326726	1.000000	0.71417	0.958000	0.39756	0.984000	0.73092	4.813000	0.62620	2.542000	0.85734	0.561000	0.74099	CGG	KCND3	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.637	KCND3-001	KNOWN	basic|CCDS	protein_coding	KCND3	HGNC	protein_coding	OTTHUMT00000033144.1	C	NM_172198		112525203	-1	no_errors	ENST00000315987	ensembl	human	known	70_37	missense	SNP	0.986	T
KDM2A	22992	genome.wustl.edu	37	11	67021785	67021785	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr11:67021785G>A	ENST00000529006.2	+	20	3649	c.3203G>A	c.(3202-3204)cGa>cAa	p.R1068Q	KDM2A_ENST00000308783.5_Missense_Mutation_p.R526Q|KDM2A_ENST00000530342.1_Missense_Mutation_p.R629Q|KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1068					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CTCCTGTCTCGACTCGACCTC	0.562																																																	0													152.0	149.0	150.0					11																	67021785		2189	4279	6468	SO:0001583	missense	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.3203G>A	11.37:g.67021785G>A	ENSP00000432786:p.Arg1068Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.R1068Q	ENST00000529006.2	37	c.3203	CCDS44657.1	11	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845110	0.71603	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000308783	T;T;T	0.42513	0.97;0.97;0.97	5.17	5.17	0.71159	.	0.133906	0.51477	D	0.000091	T	0.43233	0.1238	L	0.54323	1.7	0.39382	D	0.966266	B;B;D	0.57899	0.285;0.342;0.981	B;B;P	0.47603	0.049;0.027;0.551	T	0.29941	-0.9995	10	0.30078	T	0.28	-5.5268	12.2075	0.54361	0.0776:0.0:0.9224:0.0	.	629;526;1068	E9PIL6;D4QA03;Q9Y2K7	.;.;KDM2A_HUMAN	Q	1068;629;526	ENSP00000432786:R1068Q;ENSP00000435776:R629Q;ENSP00000309302:R526Q	ENSP00000309302:R526Q	R	+	2	0	KDM2A	66778361	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.065000	0.64344	2.674000	0.91012	0.655000	0.94253	CGA	KDM2A	-	smart_Leu-rich_rpt_Cys-con_subtyp		0.562	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	G	NM_012308		67021785	+1	no_errors	ENST00000529006	ensembl	human	known	70_37	missense	SNP	1.000	A
KLHL22	84861	genome.wustl.edu	37	22	20796610	20796610	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr22:20796610C>T	ENST00000328879.4	-	7	1811	c.1655G>A	c.(1654-1656)cGc>cAc	p.R552H	KLHL22_ENST00000440659.2_Missense_Mutation_p.R409H	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	552					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTTGTGTGAGCGGCCACCTAA	0.602																																																	0													72.0	68.0	69.0					22																	20796610		2203	4300	6503	SO:0001583	missense	84861				CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1655G>A	22.37:g.20796610C>T	ENSP00000331682:p.Arg552His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R552H	ENST00000328879.4	37	c.1655	CCDS13780.1	22	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743037	0.89663	.	.	ENSG00000099910	ENST00000328879;ENST00000440659	T;T	0.79033	-1.23;-1.23	5.67	5.67	0.87782	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.84110	0.5400	L	0.41573	1.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84977	0.0886	10	0.66056	D	0.02	.	17.2701	0.87098	0.0:1.0:0.0:0.0	.	552	Q53GT1	KLH22_HUMAN	H	552;409	ENSP00000331682:R552H;ENSP00000405521:R409H	ENSP00000331682:R552H	R	-	2	0	KLHL22	19126610	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.726000	0.84824	2.687000	0.91594	0.563000	0.77884	CGC	KLHL22	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.602	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL22	HGNC	protein_coding	OTTHUMT00000320045.2	C	NM_032775		20796610	-1	no_errors	ENST00000328879	ensembl	human	known	70_37	missense	SNP	1.000	T
KRTAP5-5	439915	genome.wustl.edu	37	11	1651178	1651178	+	Silent	SNP	G	G	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr11:1651178G>A	ENST00000399676.2	+	1	146	c.108G>A	c.(106-108)ggG>ggA	p.G36G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	36						keratin filament (GO:0045095)		p.G36G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctggctgtgggggctgtggct	0.721																																																	1	Substitution - coding silent(1)	lung(1)											19.0	29.0	26.0					11																	1651178		1872	3839	5711	SO:0001819	synonymous_variant	439915			AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.108G>A	11.37:g.1651178G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MWN2	Silent	SNP	NULL	p.G36	ENST00000399676.2	37	c.108	CCDS41592.1	11																																																																																			KRTAP5-5	-	NULL		0.721	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	HGNC	protein_coding	OTTHUMT00000127919.1	G			1651178	+1	no_errors	ENST00000399676	ensembl	human	known	70_37	silent	SNP	0.998	A
KRTAP5-5	439915	genome.wustl.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763|rs144216147	byFrequency	TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	GGCTGTGGA	GGCTGTGGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)ggctgtggadel	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713																																																	0										727,2515		74,579,968						1.8	0.6		dbSNP_130	24	1587,5219		143,1301,1959	no	coding	KRTAP5-5	NM_001001480.2		217,1880,2927	A1A1,A1R,RR		23.3177,22.4244,23.0295				2314,7734				SO:0001651	inframe_deletion	439915			AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.121_129delGGCTGTGGA	11.37:g.1651191_1651199delGGCTGTGGA	ENSP00000382584:p.Gly47_Gly49del	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MWN2	In_Frame_Del	DEL	NULL	p.GCG44in_frame_del	ENST00000399676.2	37	c.121_129	CCDS41592.1	11																																																																																			KRTAP5-5	-	NULL		0.713	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	HGNC	protein_coding	OTTHUMT00000127919.1	GGCTGTGGA			1651199	+1	no_errors	ENST00000399676	ensembl	human	known	70_37	in_frame_del	DEL	0.036:0.152:0.136:0.093:0.018:0.001:0.874:0.883:0.301	-
LRIT1	26103	genome.wustl.edu	37	10	85997188	85997188	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr10:85997188G>A	ENST00000372105.3	-	2	398	c.377C>T	c.(376-378)gCg>gTg	p.A126V		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	126						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GTCCCTGAGCGCCGCCCAGGG	0.736																																																	0																																										SO:0001583	missense	26103			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.377C>T	10.37:g.85997188G>A	ENSP00000361177:p.Ala126Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0QD41|Q9Y4N7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A126V	ENST00000372105.3	37	c.377	CCDS7373.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.153459	0.94645	.	.	ENSG00000148602	ENST00000372105	T	0.59083	0.29	4.93	4.03	0.46877	.	0.362035	0.29273	N	0.012622	T	0.48995	0.1531	N	0.13235	0.315	0.40137	D	0.976785	P	0.52061	0.95	P	0.51999	0.687	T	0.53472	-0.8434	10	0.52906	T	0.07	.	10.4218	0.44354	0.0919:0.0:0.9081:0.0	.	126	Q9P2V4	LRIT1_HUMAN	V	126	ENSP00000361177:A126V	ENSP00000361177:A126V	A	-	2	0	LRIT1	85987168	0.870000	0.30015	0.619000	0.29118	0.907000	0.53573	4.134000	0.57990	1.298000	0.44778	0.655000	0.94253	GCG	LRIT1	-	smart_Leu-rich_rpt_typical-subtyp		0.736	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT1	HGNC	protein_coding	OTTHUMT00000049109.1	G	NM_015613		85997188	-1	no_errors	ENST00000372105	ensembl	human	known	70_37	missense	SNP	0.990	A
MAP3K15	389840	genome.wustl.edu	37	X	19449566	19449566	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chrX:19449566C>T	ENST00000338883.4	-	7	1155	c.1156G>A	c.(1156-1158)Gcc>Acc	p.A386T	MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.A218T|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	386							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CACTCAATGGCGCTGTCGCGG	0.507																																																	0													78.0	68.0	71.0					X																	19449566		1568	3582	5150	SO:0001583	missense	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.1156G>A	X.37:g.19449566C>T	ENSP00000345629:p.Ala386Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	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	p.A386T	ENST00000338883.4	37	c.1156		X	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384784	0.82792	.	.	ENSG00000180815	ENST00000338883;ENST00000469203	T;T	0.18960	2.18;2.18	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.42562	0.1208	M	0.75615	2.305	0.58432	D	0.999997	.	.	.	.	.	.	T	0.39354	-0.9618	8	0.87932	D	0	.	14.6124	0.68524	0.146:0.854:0.0:0.0	.	.	.	.	T	386;218	ENSP00000345629:A386T;ENSP00000428356:A218T	ENSP00000345629:A386T	A	-	1	0	MAP3K15	19359487	1.000000	0.71417	0.953000	0.39169	0.993000	0.82548	3.697000	0.54764	2.289000	0.77006	0.597000	0.82753	GCC	MAP3K15	-	NULL		0.507	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		C	NM_001001671		19449566	-1	no_errors	ENST00000338883	ensembl	human	known	70_37	missense	SNP	0.990	T
MAGEB16	139604	genome.wustl.edu	37	X	35820970	35820970	+	Silent	SNP	T	T	C			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chrX:35820970T>C	ENST00000399989.1	+	2	936	c.657T>C	c.(655-657)cgT>cgC	p.R219R	MAGEB16_ENST00000399987.1_Silent_p.R219R|MAGEB16_ENST00000399992.1_Silent_p.R251R|MAGEB16_ENST00000399988.1_Silent_p.R219R|MAGEB16_ENST00000399985.1_Silent_p.R219R	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	219	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AGGGCAACCGTGCCACTGAAG	0.507																																																	0													87.0	82.0	84.0					X																	35820970		2188	4294	6482	SO:0001819	synonymous_variant	139604				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.657T>C	X.37:g.35820970T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MU30	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R251	ENST00000399989.1	37	c.753	CCDS43927.1	X																																																																																			MAGEB16	-	pfam_MAGE,pfscan_MAGE		0.507	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB16	HGNC	protein_coding	OTTHUMT00000251034.1	T			35820970	+1	no_errors	ENST00000399992	ensembl	human	known	70_37	silent	SNP	0.847	C
MED14	9282	genome.wustl.edu	37	X	40571458	40571458	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chrX:40571458T>A	ENST00000324817.1	-	7	987	c.869A>T	c.(868-870)cAg>cTg	p.Q290L		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	290	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTACATATCCTGAAGAGGTTT	0.423																																																	0													170.0	141.0	151.0					X																	40571458		2203	4300	6503	SO:0001583	missense	9282			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.869A>T	X.37:g.40571458T>A	ENSP00000323720:p.Gln290Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4KMR7|Q9UNB3	Missense_Mutation	SNP	pfam_Mediator_Med14	p.Q290L	ENST00000324817.1	37	c.869	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	T	11.47	1.647663	0.29246	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.48995	0.1531	L	0.34521	1.04	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43669	-0.9377	9	0.09843	T	0.71	.	14.5065	0.67755	0.0:0.0:0.0:1.0	.	290	O60244	MED14_HUMAN	L	290	.	ENSP00000323720:Q290L	Q	-	2	0	MED14	40456402	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.627000	0.83176	1.806000	0.52798	0.486000	0.48141	CAG	MED14	-	NULL		0.423	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	T	NM_004229		40571458	-1	no_errors	ENST00000324817	ensembl	human	known	70_37	missense	SNP	1.000	A
MTOR	2475	genome.wustl.edu	37	1	11181396	11181396	+	Silent	SNP	C	C	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:11181396C>T	ENST00000361445.4	-	49	6916	c.6840G>A	c.(6838-6840)ctG>ctA	p.L2280L	MTOR_ENST00000376838.1_Silent_p.L485L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2280	Interaction with MLST8.|PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CCTTCTGCATCAGAGTCAAGT	0.532																																																	0													134.0	108.0	117.0					1																	11181396		2203	4300	6503	SO:0001819	synonymous_variant	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6840G>A	1.37:g.11181396C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L2280	ENST00000361445.4	37	c.6840	CCDS127.1	1																																																																																			MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.532	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	C	NM_004958		11181396	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	silent	SNP	1.000	T
LINC01317	104355287	genome.wustl.edu	37	2	33952905	33952905	+	lincRNA	SNP	C	C	T	rs550391494		TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr2:33952905C>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CAGGCGCCCACGCTGGCCACC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		17833	0.0		0.0	False		,,,				2504	0.001																0																																												151325																															2.37:g.33952905C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000366209.2	37	NULL		2																																																																																			MYADML	-	-		0.647	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	MYADML	HGNC	lincRNA	OTTHUMT00000325406.1	C			33952905	-1	no_errors	ENST00000474610	ensembl	human	known	70_37	rna	SNP	0.818	T
NBPF3	84224	genome.wustl.edu	37	1	21809724	21809724	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:21809724C>G	ENST00000318249.5	+	15	2097	c.1747C>G	c.(1747-1749)Caa>Gaa	p.Q583E	NBPF3_ENST00000342104.5_Missense_Mutation_p.Q571E|NBPF3_ENST00000318220.6_Missense_Mutation_p.Q527E|NBPF3_ENST00000454000.2_Missense_Mutation_p.Q513E	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	583	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AACTTACTTTCAACTACATGC	0.448																																																	0													85.0	55.0	65.0					1																	21809724		2173	4222	6395	SO:0001583	missense	84224			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1747C>G	1.37:g.21809724C>G	ENSP00000316782:p.Gln583Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	pfam_NBPF_dom	p.Q583E	ENST00000318249.5	37	c.1747	CCDS216.1	1	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.885556	0.00061	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	1.03	-1.38	0.09027	DUF1220 (2);	.	.	.	.	T	0.00754	0.0025	N	0.00041	-2.485	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.45352	-0.9267	9	0.02654	T	1	.	6.6119	0.22757	0.0:0.5987:0.4013:0.0	.	513;571;583	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	E	513;527;583;571;527	ENSP00000415711:Q513E;ENSP00000316739:Q527E;ENSP00000316782:Q583E;ENSP00000340336:Q571E;ENSP00000391865:Q527E	ENSP00000316739:Q527E	Q	+	1	0	NBPF3	21682311	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.252000	0.08806	-0.452000	0.07087	-0.560000	0.04181	CAA	NBPF3	-	pfam_NBPF_dom		0.448	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBPF3	HGNC	protein_coding		C	NM_032264		21809724	+1	no_errors	ENST00000318249	ensembl	human	known	70_37	missense	SNP	0.000	G
NT5C1A	84618	genome.wustl.edu	37	1	40131256	40131256	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:40131256C>T	ENST00000235628.1	-	3	369	c.370G>A	c.(370-372)Gtc>Atc	p.V124I		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	124					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTCATGAGGACGATGTCGAAG	0.582																																																	0													134.0	105.0	115.0					1																	40131256		2203	4300	6503	SO:0001583	missense	84618			AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.370G>A	1.37:g.40131256C>T	ENSP00000235628:p.Val124Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	pfam_5-nucleotidase	p.V124I	ENST00000235628.1	37	c.370	CCDS440.1	1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026964	0.35797	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.73257	0.3564	L	0.49571	1.57	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.67542	-0.5644	9	0.23891	T	0.37	-5.9488	19.2929	0.94110	0.0:1.0:0.0:0.0	.	124	Q9BXI3	5NT1A_HUMAN	I	124	.	ENSP00000235628:V124I	V	-	1	0	NT5C1A	39903843	1.000000	0.71417	0.997000	0.53966	0.496000	0.33645	5.991000	0.70602	2.636000	0.89361	0.655000	0.94253	GTC	NT5C1A	-	pfam_5-nucleotidase		0.582	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5C1A	HGNC	protein_coding	OTTHUMT00000025626.1	C	NM_032526		40131256	-1	no_errors	ENST00000235628	ensembl	human	known	70_37	missense	SNP	1.000	T
PARK2	5071	genome.wustl.edu	37	6	162683699	162683699	+	Silent	SNP	G	G	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr6:162683699G>A	ENST00000366898.1	-	3	372	c.270C>T	c.(268-270)aaC>aaT	p.N90N	PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Silent_p.N90N|PARK2_ENST00000366892.1_Silent_p.N90N|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000338468.3_De_novo_Start_InFrame	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	90					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CTCCCGCCGCGTTTCTGGGGT	0.577																																																	0													88.0	86.0	87.0					6																	162683699		2203	4300	6503	SO:0001819	synonymous_variant	5071				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.270C>T	6.37:g.162683699G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Silent	SNP	pfam_Ubiquitin,pfam_Znf_C6HC,pfam_SUMO,smart_Ubiquitin,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin_subgr	p.N90	ENST00000366898.1	37	c.270	CCDS5281.1	6																																																																																			PARK2	-	pirsf_Parkin		0.577	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PARK2	HGNC	protein_coding	OTTHUMT00000042995.1	G			162683699	-1	no_errors	ENST00000366898	ensembl	human	known	70_37	silent	SNP	0.000	A
PKD2L1	9033	genome.wustl.edu	37	10	102089003	102089003	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr10:102089003A>G	ENST00000318222.3	-	2	696	c.314T>C	c.(313-315)tTg>tCg	p.L105S	PKD2L1_ENST00000353274.3_Missense_Mutation_p.L105S|PKD2L1_ENST00000338519.3_Missense_Mutation_p.L105S	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	105					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AATATATACCAACAGCTCCCT	0.463																																																	0													163.0	139.0	147.0					10																	102089003		2203	4300	6503	SO:0001583	missense	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.314T>C	10.37:g.102089003A>G	ENSP00000325296:p.Leu105Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1	p.L105S	ENST00000318222.3	37	c.314	CCDS7492.1	10	.	.	.	.	.	.	.	.	.	.	A	16.93	3.257728	0.59321	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.63417	0.09;-0.04;0.01	5.15	5.15	0.70609	.	0.272984	0.29799	N	0.011179	T	0.54902	0.1887	L	0.52126	1.63	0.33933	D	0.642239	P;B	0.48089	0.905;0.157	B;B	0.39935	0.314;0.103	T	0.69202	-0.5207	10	0.39692	T	0.17	-5.8459	12.9605	0.58455	1.0:0.0:0.0:0.0	.	58;105	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	S	105	ENSP00000345068:L105S;ENSP00000266049:L105S;ENSP00000325296:L105S	ENSP00000325296:L105S	L	-	2	0	PKD2L1	102078993	1.000000	0.71417	0.304000	0.25085	0.375000	0.29983	7.763000	0.85283	1.952000	0.56665	0.459000	0.35465	TTG	PKD2L1	-	prints_PKD_1		0.463	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L1	HGNC	protein_coding	OTTHUMT00000049863.2	A	NM_016112		102089003	-1	no_errors	ENST00000318222	ensembl	human	known	70_37	missense	SNP	0.985	G
PLD1	5337	genome.wustl.edu	37	3	171406541	171406541	+	Silent	SNP	G	G	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr3:171406541G>A	ENST00000351298.4	-	14	1590	c.1464C>T	c.(1462-1464)gaC>gaT	p.D488D	PLD1_ENST00000340989.4_Silent_p.D488D|PLD1_ENST00000342215.6_Silent_p.D488D|PLD1_ENST00000356327.5_Silent_p.D488D	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	488	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GCTCATTGTCGTCCCACCTTC	0.517																																					NSCLC(149;2174 3517 34058)												0													131.0	111.0	118.0					3																	171406541		2203	4300	6503	SO:0001819	synonymous_variant	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1464C>T	3.37:g.171406541G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.D488	ENST00000351298.4	37	c.1464	CCDS3216.1	3																																																																																			PLD1	-	pirsf_PLipase_D_euk		0.517	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	HGNC	protein_coding	OTTHUMT00000346730.2	G	NM_002662		171406541	-1	no_errors	ENST00000351298	ensembl	human	known	70_37	silent	SNP	0.998	A
PLEKHO1	51177	genome.wustl.edu	37	1	150129152	150129152	+	Silent	SNP	G	G	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:150129152G>A	ENST00000369124.4	+	4	644	c.366G>A	c.(364-366)tcG>tcA	p.S122S	PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000025469.6_Silent_p.S122S	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	122	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGAAGGAATCGTGGATCAATG	0.572																																																	0													107.0	101.0	103.0					1																	150129152		2203	4300	6503	SO:0001819	synonymous_variant	51177			AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.366G>A	1.37:g.150129152G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S122	ENST00000369124.4	37	c.366	CCDS945.1	1																																																																																			PLEKHO1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.572	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHO1	HGNC	protein_coding	OTTHUMT00000034962.1	G	NM_016274		150129152	+1	no_errors	ENST00000369124	ensembl	human	known	70_37	silent	SNP	0.140	A
PTPRM	5797	genome.wustl.edu	37	18	8406235	8406235	+	3'UTR	SNP	G	G	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr18:8406235G>A	ENST00000332175.8	+	0	5471				RP11-789C17.1_ENST00000578897.1_RNA|PTPRM_ENST00000400053.4_3'UTR|RP11-789C17.5_ENST00000579805.1_RNA|PTPRM_ENST00000444013.1_3'UTR|PTPRM_ENST00000580170.1_3'UTR	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M						homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GTGCAAAAGAGATGAAGACTT	0.403																																																	0													84.0	73.0	76.0					18																	8406235		692	1591	2283	SO:0001624	3_prime_UTR_variant	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.*75G>A	18.37:g.8406235G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBN1|D3DUH8|J3QL11	RNA	SNP	-	NULL	ENST00000332175.8	37	NULL	CCDS11840.1	18																																																																																			PTPRM	-	-		0.403	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	G			8406235	+1	no_errors	ENST00000580949	ensembl	human	known	70_37	rna	SNP	1.000	A
RHOD	29984	genome.wustl.edu	37	11	66838981	66838981	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr11:66838981G>A	ENST00000308831.2	+	5	626	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	RHOD_ENST00000532559.1_Missense_Mutation_p.A115T	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	181					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						CAACGTCCACGCCGTCTTCCA	0.687																																																	0													29.0	29.0	29.0					11																	66838981		2200	4293	6493	SO:0001583	missense	29984			D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"""Rho-related protein HP1"", ""Rho-related GTP-binding protein RhoD"""	605781	"""ras homolog gene family, member D"""	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.541G>A	11.37:g.66838981G>A	ENSP00000308576:p.Ala181Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A181T	ENST00000308831.2	37	c.541	CCDS8155.1	11	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154776	0.38021	.	.	ENSG00000173156	ENST00000308831;ENST00000532559	T;T	0.69806	-0.43;-0.43	4.27	1.06	0.20224	.	0.542263	0.15541	N	0.256967	T	0.36853	0.0982	N	0.12853	0.265	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.16012	-1.0417	10	0.08179	T	0.78	-21.9581	3.264	0.06859	0.2268:0.0:0.5535:0.2197	.	181	O00212	RHOD_HUMAN	T	181;115	ENSP00000308576:A181T;ENSP00000432003:A115T	ENSP00000308576:A181T	A	+	1	0	RHOD	66595557	0.006000	0.16342	0.137000	0.22149	0.801000	0.45260	1.176000	0.31957	0.462000	0.27095	0.561000	0.74099	GCC	RHOD	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase		0.687	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOD	HGNC	protein_coding	OTTHUMT00000393136.1	G	NM_014578		66838981	+1	no_errors	ENST00000308831	ensembl	human	known	70_37	missense	SNP	0.012	A
RPLP0	6175	genome.wustl.edu	37	12	120638791	120638791	+	5'UTR	SNP	G	G	A	rs554524429		TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr12:120638791G>A	ENST00000551150.1	-	0	111				PXN-AS1_ENST00000538804.1_RNA|RPLP0_ENST00000392514.4_Intron|RPLP0_ENST00000550296.1_5'Flank|RPLP0_ENST00000313104.5_Intron|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542314.1_RNA|RPLP0_ENST00000228306.4_Intron|PXN-AS1_ENST00000542265.1_RNA|PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000546989.1_Intron			P05388	RLA0_HUMAN	ribosomal protein, large, P0						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)|ribosome biogenesis (GO:0042254)|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)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCCCAGGCGGAACAGAATAG	0.672											OREG0022184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001623	5_prime_UTR_variant	6175			AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.-205C>T	12.37:g.120638791G>A		Somatic	1505	WXS	Illumina HiSeq	Phase_IV	Q3B7A4|Q9BVK4	RNA	SNP	-	NULL	ENST00000551150.1	37	NULL	CCDS9193.1	12																																																																																			RPLP0	-	-		0.672	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPLP0	HGNC	protein_coding	OTTHUMT00000403448.3	G	NM_053275		120638791	-1	no_errors	ENST00000551336	ensembl	human	putative	70_37	rna	SNP	0.000	A
RPS6KA2	6196	genome.wustl.edu	37	6	166872944	166872944	+	Silent	SNP	C	C	T	rs376127612		TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr6:166872944C>T	ENST00000265678.4	-	12	1291	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	RPS6KA2-IT1_ENST00000416770.1_RNA|RPS6KA2_ENST00000503859.1_Silent_p.T364T|RPS6KA2_ENST00000481261.2_Silent_p.T267T|RPS6KA2_ENST00000510118.1_Silent_p.T381T|RPS6KA2_ENST00000405189.3_Silent_p.T267T	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	356	AGC-kinase C-terminal.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CACCTGTGGGCGTCCGCGCTG	0.557																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	125.0	99.0	108.0		1092,1068	-10.0	0.8	6		108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RPS6KA2	NM_001006932.1,NM_021135.4	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	364/742,356/734	166872944	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6196			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1068G>A	6.37:g.166872944C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T381	ENST00000265678.4	37	c.1143	CCDS5294.1	6																																																																																			RPS6KA2	-	pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II		0.557	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA2	HGNC	protein_coding	OTTHUMT00000043075.3	C	NM_021135		166872944	-1	no_errors	ENST00000510118	ensembl	human	known	70_37	silent	SNP	0.999	T
SEMA3A	10371	genome.wustl.edu	37	7	83640560	83640560	+	Silent	SNP	T	T	C			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr7:83640560T>C	ENST00000265362.4	-	8	1178	c.864A>G	c.(862-864)aaA>aaG	p.K288K	SEMA3A_ENST00000436949.1_Silent_p.K288K	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	288	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TCAGACGAGCTTTGAGGAATG	0.398																																																	0													131.0	120.0	123.0					7																	83640560		2203	4300	6503	SO:0001819	synonymous_variant	10371			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.864A>G	7.37:g.83640560T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.K288	ENST00000265362.4	37	c.864	CCDS5599.1	7																																																																																			SEMA3A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.398	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	T	NM_006080		83640560	-1	no_errors	ENST00000265362	ensembl	human	known	70_37	silent	SNP	1.000	C
SH2D7	646892	genome.wustl.edu	37	15	78386459	78386459	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr15:78386459C>T	ENST00000328828.5	+	2	182	c.182C>T	c.(181-183)aCg>aTg	p.T61M	SNORA63_ENST00000362763.1_RNA|SH2D7_ENST00000409568.2_5'UTR	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	61	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									endometrium(2)|kidney(2)|lung(3)	7						CCCAGGCAGACGGAGCAGCTA	0.577																																																	0													55.0	60.0	58.0					15																	78386459		2059	4200	6259	SO:0001583	missense	646892				CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"""SH2 domain containing"""	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.182C>T	15.37:g.78386459C>T	ENSP00000327846:p.Thr61Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.T61M	ENST00000328828.5	37	c.182	CCDS45315.1	15	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280655	0.80692	.	.	ENSG00000183476	ENST00000328828	T	0.42900	0.96	5.57	5.57	0.84162	SH2 motif (5);	.	.	.	.	T	0.60470	0.2271	L	0.52905	1.665	0.31585	N	0.654648	D	0.89917	1.0	D	0.77557	0.99	T	0.65455	-0.6164	9	0.87932	D	0	.	15.0448	0.71819	0.0:1.0:0.0:0.0	.	61	A6NKC9	SH2D7_HUMAN	M	61	ENSP00000327846:T61M	ENSP00000327846:T61M	T	+	2	0	SH2D7	76173514	0.972000	0.33761	0.999000	0.59377	0.992000	0.81027	2.994000	0.49433	2.617000	0.88574	0.555000	0.69702	ACG	SH2D7	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.577	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SH2D7	HGNC	protein_coding	OTTHUMT00000334660.2	C	NM_001101404		78386459	+1	no_errors	ENST00000328828	ensembl	human	novel	70_37	missense	SNP	0.998	T
SLC39A5	283375	genome.wustl.edu	37	12	56629106	56629106	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr12:56629106C>T	ENST00000266980.4	+	5	1093	c.800C>T	c.(799-801)cCg>cTg	p.P267L	ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Missense_Mutation_p.P267L	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	267					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CATCTGCTACCGCATGTATGT	0.607																																																	0													135.0	117.0	123.0					12																	56629106		2203	4300	6503	SO:0001583	missense	283375				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.800C>T	12.37:g.56629106C>T	ENSP00000266980:p.Pro267Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R808|Q8N6Y3	Missense_Mutation	SNP	pfam_ZIP	p.P267L	ENST00000266980.4	37	c.800	CCDS8912.2	12	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392088	0.83011	.	.	ENSG00000139540	ENST00000454355;ENST00000436633;ENST00000266980	T;D;T	0.93953	-0.05;-3.32;-0.05	4.44	4.44	0.53790	.	0.000000	0.64402	D	0.000011	D	0.97788	0.9274	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99113	1.0847	10	0.87932	D	0	-16.8209	16.703	0.85364	0.0:1.0:0.0:0.0	.	267;158	Q6ZMH5;B4DPG8	S39A5_HUMAN;.	L	267;238;267	ENSP00000405360:P267L;ENSP00000391711:P238L;ENSP00000266980:P267L	ENSP00000266980:P267L	P	+	2	0	SLC39A5	54915373	1.000000	0.71417	0.979000	0.43373	0.594000	0.36715	5.207000	0.65197	2.420000	0.82092	0.561000	0.74099	CCG	SLC39A5	-	pfam_ZIP		0.607	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A5	HGNC	protein_coding	OTTHUMT00000346834.1	C	NM_173596		56629106	+1	no_errors	ENST00000266980	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC6A3	6531	genome.wustl.edu	37	5	1409228	1409228	+	Missense_Mutation	SNP	C	C	T	rs75916702		TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr5:1409228C>T	ENST00000270349.9	-	11	1538	c.1411G>A	c.(1411-1413)Gtc>Atc	p.V471I	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V471I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	471			V -> I (in dbSNP:rs75916702). {ECO:0000269|PubMed:21179162}.		adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGCGTGAAGACGTAGATGCCA	0.572																																																	0													55.0	48.0	51.0					5																	1409228		2201	4295	6496	SO:0001583	missense	6531				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1411G>A	5.37:g.1409228C>T	ENSP00000270349:p.Val471Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUN4|Q14996	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.V471I	ENST00000270349.9	37	c.1411	CCDS3863.1	5	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850331	0.51270	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.74315	-0.83;-0.83	3.65	3.65	0.41850	.	0.132318	0.49916	N	0.000126	T	0.75332	0.3835	L	0.46157	1.445	0.47547	D	0.999454	D	0.56287	0.975	P	0.52424	0.698	T	0.78740	-0.2086	10	0.66056	D	0.02	.	13.2113	0.59825	0.0:1.0:0.0:0.0	.	471	Q01959	SC6A3_HUMAN	I	471	ENSP00000270349:V471I;ENSP00000399806:V471I	ENSP00000270349:V471I	V	-	1	0	SLC6A3	1462228	0.998000	0.40836	0.989000	0.46669	0.664000	0.39144	3.355000	0.52262	2.042000	0.60477	0.555000	0.69702	GTC	SLC6A3	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.572	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3	C	NM_001044		1409228	-1	no_errors	ENST00000270349	ensembl	human	known	70_37	missense	SNP	0.999	T
SLC9A7	84679	genome.wustl.edu	37	X	46618353	46618353	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chrX:46618353C>T	ENST00000328306.4	-	1	137	c.112G>A	c.(112-114)Gcg>Acg	p.A38T		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	38					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GCCGAGGCCGCGGCCGCGACT	0.761																																					Pancreas(118;454 1696 1930 13865 39976)												0													4.0	5.0	5.0					X																	46618353		1923	3837	5760	SO:0001583	missense	84679			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.112G>A	X.37:g.46618353C>T	ENSP00000330320:p.Ala38Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O75827|Q5JXP9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.A38T	ENST00000328306.4	37	c.112	CCDS14269.1	X	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179624	0.57800	.	.	ENSG00000065923	ENST00000328306	T	0.55760	0.5	4.1	-0.652	0.11450	.	1.468250	0.03983	N	0.293582	T	0.35422	0.0931	N	0.22421	0.69	0.24316	N	0.995064	B	0.15930	0.015	B	0.06405	0.002	T	0.15263	-1.0443	10	0.09338	T	0.73	.	8.3505	0.32299	0.3352:0.5565:0.1082:0.0	.	38	Q96T83	SL9A7_HUMAN	T	38	ENSP00000330320:A38T	ENSP00000330320:A38T	A	-	1	0	SLC9A7	46503297	.	.	0.949000	0.38748	0.864000	0.49448	.	.	-0.245000	0.09625	0.534000	0.68092	GCG	SLC9A7	-	NULL		0.761	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A7	HGNC	protein_coding	OTTHUMT00000056370.1	C	NM_032591		46618353	-1	no_errors	ENST00000328306	ensembl	human	known	70_37	missense	SNP	0.941	T
SLCO1B1	10599	genome.wustl.edu	37	12	21355441	21355441	+	Silent	SNP	T	T	G			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr12:21355441T>G	ENST00000256958.2	+	10	1248	c.1152T>G	c.(1150-1152)ccT>ccG	p.P384P		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	384					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TAACCATACCTATTTTTGCAA	0.294																																																	0													44.0	45.0	45.0					12																	21355441		2203	4297	6500	SO:0001819	synonymous_variant	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1152T>G	12.37:g.21355441T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.P384	ENST00000256958.2	37	c.1152	CCDS8685.1	12																																																																																			SLCO1B1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.294	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	HGNC	protein_coding	OTTHUMT00000402070.1	T	NM_006446		21355441	+1	no_errors	ENST00000256958	ensembl	human	known	70_37	silent	SNP	0.089	G
SND1	27044	genome.wustl.edu	37	7	127725826	127725826	+	Silent	SNP	C	C	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr7:127725826C>T	ENST00000354725.3	+	20	2492	c.2298C>T	c.(2296-2298)taC>taT	p.Y766Y		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	766	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.Y766Y(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						ACATTGACTACGGCAACGTGA	0.527																																																	1	Substitution - coding silent(1)	large_intestine(1)											151.0	133.0	139.0					7																	127725826		2203	4300	6503	SO:0001819	synonymous_variant	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2298C>T	7.37:g.127725826C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13122|Q96AG0	Silent	SNP	pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease	p.Y766	ENST00000354725.3	37	c.2298	CCDS34747.1	7																																																																																			SND1	-	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor		0.527	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	C	NM_014390		127725826	+1	no_errors	ENST00000354725	ensembl	human	known	70_37	silent	SNP	0.986	T
TBC1D5	9779	genome.wustl.edu	37	3	17255822	17255822	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr3:17255822C>A	ENST00000253692.7	-	18	3293	c.1629G>T	c.(1627-1629)gaG>gaT	p.E543D	TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Missense_Mutation_p.E543D|TBC1D5_ENST00000446818.2_Missense_Mutation_p.E565D|TBC1D5_ENST00000429924.2_Missense_Mutation_p.E517D	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	543						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CAGGCAAACTCTCAACGCTTG	0.398																																																	0													69.0	71.0	70.0					3																	17255822		2203	4300	6503	SO:0001583	missense	9779			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1629G>T	3.37:g.17255822C>A	ENSP00000253692:p.Glu543Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NP25|C9JP52	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E543D	ENST00000253692.7	37	c.1629	CCDS33714.1	3	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760970	0.31137	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.57595	1.28;1.28;1.0;0.39	5.96	3.06	0.35304	.	0.047167	0.85682	D	0.000000	T	0.37839	0.1018	L	0.31926	0.97	0.46222	D	0.998932	B;B;B;B	0.11235	0.004;0.002;0.002;0.002	B;B;B;B	0.14023	0.01;0.004;0.004;0.004	T	0.12889	-1.0530	10	0.27082	T	0.32	-25.4323	9.177	0.37118	0.0:0.6821:0.1179:0.1999	.	517;565;543;543	C9J3F6;C9JP52;B9A6K1;Q92609	.;.;.;TBCD5_HUMAN	D	543;543;565;517	ENSP00000253692:E543D;ENSP00000398127:E543D;ENSP00000402935:E565D;ENSP00000411925:E517D	ENSP00000253692:E543D	E	-	3	2	TBC1D5	17230826	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.790000	0.26900	0.869000	0.35703	0.650000	0.86243	GAG	TBC1D5	-	NULL		0.398	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	C	NM_014744		17255822	-1	no_errors	ENST00000253692	ensembl	human	known	70_37	missense	SNP	1.000	A
ACTRT3	84517	genome.wustl.edu	37	3	169482504	169482504	+	IGR	SNP	C	C	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr3:169482504C>T	ENST00000330368.2	-	0	2005				TERC_ENST00000602385.1_lincRNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											GCCTGAACCTCGCCCTCGCCC	0.721																																																	0													10.0	11.0	11.0					3																	169482504		871	1986	2857	SO:0001628	intergenic_variant	7012			AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9			3.37:g.169482504C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96IS0|Q96NJ0	RNA	SNP	-	NULL	ENST00000330368.2	37	NULL	CCDS3206.1	3																																																																																			TERC	-	-		0.721	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TERC	HGNC	protein_coding	OTTHUMT00000467797.1	C	NM_032487		169482504	-1	no_errors	ENST00000363312	ensembl	human	known	70_37	rna	SNP	0.003	T
TMEM129	92305	genome.wustl.edu	37	4	1719975	1719975	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr4:1719975C>T	ENST00000382936.3	-	2	1077	c.584G>A	c.(583-585)cGg>cAg	p.R195Q	TMEM129_ENST00000303277.2_Missense_Mutation_p.R195Q|TMEM129_ENST00000536901.1_Missense_Mutation_p.R195Q	NM_001127266.1	NP_001120738.1	A0AVI4	TM129_HUMAN	transmembrane protein 129, E3 ubiquitin protein ligase	195					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(23;0.00765)			CTCATGCTGCCGAGACTCCGT	0.602																																																	0													82.0	56.0	65.0					4																	1719975		2202	4300	6502	SO:0001583	missense	92305			BC009331	CCDS3351.1, CCDS46998.1	4p16.3	2014-07-25	2014-07-25		ENSG00000168936	ENSG00000168936			25137	protein-coding gene	gene with protein product		615975	"""transmembrane protein 129"""			24807418, 25030448	Standard	NM_138385		Approved	D4S2561E	uc003gdn.3	A0AVI4	OTTHUMG00000121150	ENST00000382936.3:c.584G>A	4.37:g.1719975C>T	ENSP00000372394:p.Arg195Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NH49|A6NI98|D3DVP8	Missense_Mutation	SNP	pfam_Tmpp129	p.R195Q	ENST00000382936.3	37	c.584	CCDS46998.1	4	.	.	.	.	.	.	.	.	.	.	C	4.851	0.158107	0.09236	.	.	ENSG00000168936	ENST00000303277;ENST00000382936;ENST00000536901	T;T;T	0.46451	0.87;0.87;0.87	4.56	1.71	0.24356	.	0.188839	0.42420	N	0.000701	T	0.23014	0.0556	L	0.32530	0.975	0.30424	N	0.77786	B;B	0.14012	0.001;0.009	B;B	0.06405	0.002;0.002	T	0.33317	-0.9873	10	0.02654	T	1	-16.4691	7.2248	0.26010	0.0:0.6826:0.0:0.3174	.	195;195	A0AVI4;A0AVI4-2	TM129_HUMAN;.	Q	195	ENSP00000305243:R195Q;ENSP00000372394:R195Q;ENSP00000441812:R195Q	ENSP00000305243:R195Q	R	-	2	0	TMEM129	1689773	0.833000	0.29383	0.553000	0.28255	0.024000	0.10985	1.275000	0.33144	0.314000	0.23086	-0.224000	0.12420	CGG	TMEM129	-	pfam_Tmpp129		0.602	TMEM129-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM129	HGNC	protein_coding	OTTHUMT00000350724.1	C	NM_138385		1719975	-1	no_errors	ENST00000382936	ensembl	human	known	70_37	missense	SNP	0.528	T
TPTEP1	387590	genome.wustl.edu	37	22	17131536	17131537	+	lincRNA	INS	-	-	CTG	rs34452519|rs145731851	byFrequency	TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr22:17131536_17131537insCTG	ENST00000426585.1	+	0	2562_2563									transmembrane phosphatase with tensin homology pseudogene 1																		TGCCCACTCTTCTGGTCTCATG	0.54														912	0.182109	0.0265	0.0865	5008	,	,		18499	0.2569		0.2256	False		,,,				2504	0.3384																0																																												387590					22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17131537_17131539dupCTG		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000426585.1	37	NULL		22																																																																																			TPTEP1	-	-		0.540	TPTEP1-002	KNOWN	basic	lincRNA	TPTEP1	HGNC	lincRNA	OTTHUMT00000280575.1	-	NR_001591		17131537	+1	no_errors	ENST00000426585	ensembl	human	known	70_37	rna	INS	0.999:0.999	CTG
TRPV2	51393	genome.wustl.edu	37	17	16335395	16335395	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr17:16335395C>A	ENST00000338560.7	+	12	2169	c.1770C>A	c.(1768-1770)taC>taA	p.Y590*	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Nonsense_Mutation_p.Y160*	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	590					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GGGCCCAGTACAGGGGTATCC	0.642																																																	0													70.0	71.0	70.0					17																	16335395		2203	4300	6503	SO:0001587	stop_gained	51393			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1770C>A	17.37:g.16335395C>A	ENSP00000342222:p.Tyr590*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NML2|A8K0Z0|Q9Y670	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	p.Y590*	ENST00000338560.7	37	c.1770	CCDS32576.1	17	.	.	.	.	.	.	.	.	.	.	C	42	9.780720	0.99261	.	.	ENSG00000187688	ENST00000338560	.	.	.	4.81	-2.07	0.07276	.	0.238301	0.44285	D	0.000468	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7683	11.3049	0.49329	0.0:0.3603:0.0:0.6397	.	.	.	.	X	590	.	ENSP00000342222:Y590X	Y	+	3	2	TRPV2	16276120	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.632000	0.05489	-0.387000	0.07809	-0.480000	0.04831	TAC	TRPV2	-	tigrfam_TRP_channel		0.642	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV2	HGNC	protein_coding	OTTHUMT00000130464.2	C	NM_016113		16335395	+1	no_errors	ENST00000338560	ensembl	human	known	70_37	nonsense	SNP	0.011	A
TRRAP	8295	genome.wustl.edu	37	7	98563429	98563429	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr7:98563429G>A	ENST00000359863.4	+	48	7275	c.7066G>A	c.(7066-7068)Gaa>Aaa	p.E2356K	TRRAP_ENST00000446306.3_Missense_Mutation_p.E2338K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E2338K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2356	Interaction with TP53.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATCCCTCATCGAAAAATCACC	0.532																																																	0													103.0	90.0	94.0					7																	98563429		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7066G>A	7.37:g.98563429G>A	ENSP00000352925:p.Glu2356Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E2356K	ENST00000359863.4	37	c.7066	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.695534	0.96802	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.64618	-0.11;-0.11	6.02	6.02	0.97574	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.76248	0.3961	M	0.78456	2.415	0.80722	D	1	D;D;D	0.67145	0.996;0.981;0.993	P;P;P	0.53760	0.734;0.45;0.652	T	0.77890	-0.2419	10	0.66056	D	0.02	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	2338;2077;2356	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	K	2356;2338;2337	ENSP00000352925:E2356K;ENSP00000347733:E2338K	ENSP00000347733:E2338K	E	+	1	0	TRRAP	98401365	1.000000	0.71417	0.668000	0.29813	0.889000	0.51656	9.476000	0.97823	2.865000	0.98341	0.655000	0.94253	GAA	TRRAP	-	superfamily_ARM-type_fold		0.532	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98563429	+1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	1.000	A
TSSK1B	83942	genome.wustl.edu	37	5	112770223	112770223	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr5:112770223C>T	ENST00000390666.3	-	1	505	c.314G>A	c.(313-315)cGg>cAg	p.R105Q	CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CAGGGCTCCCCGGGTTTTGAT	0.552																																																	0													63.0	67.0	66.0					5																	112770223		2199	4299	6498	SO:0001583	missense	83942			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.314G>A	5.37:g.112770223C>T	ENSP00000375081:p.Arg105Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8D9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R105Q	ENST00000390666.3	37	c.314	CCDS4112.1	5	.	.	.	.	.	.	.	.	.	.	C	9.692	1.152033	0.21371	.	.	ENSG00000212122	ENST00000390666	T	0.65178	-0.14	1.24	1.24	0.21308	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32578	U	0.005913	T	0.41119	0.1145	L	0.28274	0.84	0.09310	N	1	B	0.21520	0.057	B	0.18561	0.022	T	0.24404	-1.0161	10	0.51188	T	0.08	.	3.6305	0.08130	0.0:0.7219:0.0:0.2781	.	105	Q9BXA7	TSSK1_HUMAN	Q	105	ENSP00000375081:R105Q	ENSP00000375081:R105Q	R	-	2	0	TSSK1B	112798122	0.000000	0.05858	0.992000	0.48379	0.910000	0.53928	-0.248000	0.08854	0.635000	0.30488	0.313000	0.20887	CGG	TSSK1B	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.552	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK1B	HGNC	protein_coding	OTTHUMT00000250774.2	C	NM_032028		112770223	-1	no_errors	ENST00000390666	ensembl	human	known	70_37	missense	SNP	0.177	T
WDR63	126820	genome.wustl.edu	37	1	85559238	85559238	+	Missense_Mutation	SNP	G	G	A	rs199712026		TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:85559238G>A	ENST00000294664.6	+	9	1135	c.955G>A	c.(955-957)Gat>Aat	p.D319N	WDR63_ENST00000326813.8_Missense_Mutation_p.D280N|WDR63_ENST00000370596.1_Missense_Mutation_p.D280N	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	319										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GGACAAGACCGATACCCACCT	0.438																																																	0								G	ASN/ASP	0,4406		0,0,2203	191.0	178.0	183.0		955	4.9	1.0	1		183	1,8599	1.2+/-3.3	0,1,4299	no	missense	WDR63	NM_145172.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	319/892	85559238	1,13005	2203	4300	6503	SO:0001583	missense	126820				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.955G>A	1.37:g.85559238G>A	ENSP00000294664:p.Asp319Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.D319N	ENST00000294664.6	37	c.955	CCDS702.1	1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681297	0.47991	0.0	1.16E-4	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.44482	0.92;0.92;0.93	5.84	4.93	0.64822	WD40 repeat-like-containing domain (1);	0.359095	0.34200	N	0.004171	T	0.22475	0.0542	L	0.58583	1.82	0.38799	D	0.955157	B;B	0.27853	0.191;0.06	B;B	0.25405	0.06;0.016	T	0.07849	-1.0751	10	0.16896	T	0.51	-9.1006	14.7247	0.69336	0.0692:0.0:0.9308:0.0	.	280;319	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	N	280;280;319	ENSP00000359628:D280N;ENSP00000317463:D280N;ENSP00000294664:D319N	ENSP00000294664:D319N	D	+	1	0	WDR63	85331826	1.000000	0.71417	0.986000	0.45419	0.783000	0.44284	3.224000	0.51238	1.477000	0.48234	0.650000	0.86243	GAT	WDR63	-	superfamily_WD40_repeat_dom		0.438	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR63	HGNC	protein_coding	OTTHUMT00000027565.2	G	NM_145172		85559238	+1	no_errors	ENST00000294664	ensembl	human	known	70_37	missense	SNP	0.996	A
WSCD2	9671	genome.wustl.edu	37	12	108638304	108638304	+	Intron	SNP	G	G	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr12:108638304G>A	ENST00000332082.4	+	10	2163				WSCD2_ENST00000549903.1_Missense_Mutation_p.V451I|WSCD2_ENST00000261400.3_Missense_Mutation_p.V451I|WSCD2_ENST00000547525.1_Intron			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2							integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						cccaggagccgtaccaggatc	0.473																																																	0																																										SO:0001627	intron_variant	9671				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1346-3464G>A	12.37:g.108638304G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.V451I	ENST00000332082.4	37	c.1351	CCDS41828.1	12	.	.	.	.	.	.	.	.	.	.	g	0.031	-1.336108	0.01287	.	.	ENSG00000075035	ENST00000261400;ENST00000549903	T;T	0.31510	1.49;1.49	3.13	-6.25	0.02039	.	.	.	.	.	T	0.12817	0.0311	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17258	-1.0375	8	0.22109	T	0.4	.	1.6538	0.02777	0.5012:0.2069:0.1384:0.1535	.	451	Q2TBF2-2	.	I	451	ENSP00000261400:V451I;ENSP00000447272:V451I	ENSP00000261400:V451I	V	+	1	0	WSCD2	107162434	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.021000	0.01440	-2.842000	0.00334	-1.551000	0.00897	GTA	WSCD2	-	NULL		0.473	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WSCD2	HGNC	protein_coding	OTTHUMT00000405554.1	G	NM_014653		108638304	+1	no_errors	ENST00000261400	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF419	79744	genome.wustl.edu	37	19	58005234	58005234	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr19:58005234A>T	ENST00000221735.7	+	5	1495	c.1309A>T	c.(1309-1311)Agc>Tgc	p.S437C	ZNF419_ENST00000426954.2_Missense_Mutation_p.S425C|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000347466.6_Missense_Mutation_p.S405C|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000442920.2_Missense_Mutation_p.S424C|ZNF419_ENST00000415379.2_Missense_Mutation_p.S391C|ZNF419_ENST00000424930.2_Missense_Mutation_p.S438C			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		GAAATTTTTTAGCCAAAGCTC	0.423																																																	0													109.0	114.0	113.0					19																	58005234		2203	4300	6503	SO:0001583	missense	79744			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1309A>T	19.37:g.58005234A>T	ENSP00000221735:p.Ser437Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S438C	ENST00000221735.7	37	c.1312	CCDS54326.1	19	.	.	.	.	.	.	.	.	.	.	A	14.97	2.693700	0.48202	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08	2.11	-2.41	0.06562	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20170	0.0485	L	0.33293	1	0.19775	N	0.999959	D;D;D;D;D;D;D	0.76494	0.992;0.992;0.997;0.992;0.999;0.999;0.999	P;P;P;P;P;P;P	0.54140	0.516;0.516;0.703;0.616;0.734;0.743;0.734	T	0.10776	-1.0615	9	0.54805	T	0.06	.	4.0235	0.09677	0.3908:0.3617:0.2475:0.0	.	391;391;424;425;438;405;437	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	C	412;438;425;424;438;405;391;437	ENSP00000388864:S438C;ENSP00000390916:S425C;ENSP00000414709:S424C;ENSP00000299860:S405C;ENSP00000392129:S391C;ENSP00000221735:S437C	ENSP00000221735:S437C	S	+	1	0	ZNF419	62697046	0.000000	0.05858	0.003000	0.11579	0.624000	0.37722	-3.529000	0.00440	-0.966000	0.03587	0.172000	0.16884	AGC	ZNF419	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	ZNF419	HGNC	protein_coding	OTTHUMT00000378506.1	A	NM_024691		58005234	+1	no_errors	ENST00000424930	ensembl	human	known	70_37	missense	SNP	0.032	T
ZNF48	197407	genome.wustl.edu	37	16	30409621	30409621	+	Silent	SNP	C	C	G	rs370017247		TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr16:30409621C>G	ENST00000320159.2	+	2	1426	c.1050C>G	c.(1048-1050)ctC>ctG	p.L350L	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						TCAAACACCTCCGCACCCACA	0.647																																																	0													98.0	71.0	80.0					16																	30409621		2197	4300	6497	SO:0001819	synonymous_variant	197407			M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.1050C>G	16.37:g.30409621C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15920|Q4G0R3|Q69YP3|Q96IL9	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L350	ENST00000320159.2	37	c.1050	CCDS10679.1	16																																																																																			ZNF48	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.647	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF48	HGNC	protein_coding	OTTHUMT00000255549.2	C	NM_152652		30409621	+1	no_errors	ENST00000320159	ensembl	human	known	70_37	silent	SNP	0.975	G
ZNF518A	9849	genome.wustl.edu	37	10	97921124	97921125	+	RNA	INS	-	-	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr10:97921124_97921125insT	ENST00000534948.1	+	0	5900_5901							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TGGCAAGTAAATTTTTTTTCCA	0.347																																																	0																																												9849			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97921132_97921132dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJI5|O15044|Q32MP4	RNA	INS	-	NULL	ENST00000534948.1	37	NULL		10																																																																																			ZNF518A	-	-		0.347	ZNF518A-202	KNOWN	basic	processed_transcript	ZNF518A	HGNC	processed_transcript		-	NM_014803		97921125	+1	no_errors	ENST00000534948	ensembl	human	known	70_37	rna	INS	0.000:0.000	T
ZNF737	100129842	genome.wustl.edu	37	19	20727556	20727556	+	Nonsense_Mutation	SNP	G	G	A	rs371242528	byFrequency	TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr19:20727556G>A	ENST00000427401.4	-	4	1547	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	485					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTGCCACATCGTTCACATTTG	0.418																																																	0								G	stop/ARG	1,1383		0,1,691	85.0	88.0	87.0		1453	-1.7	0.0	19		87	0,3182		0,0,1591	no	stop-gained	ZNF737	NM_001159293.1		0,1,2282	AA,AG,GG		0.0,0.0723,0.0219		485/537	20727556	1,4565	692	1591	2283	SO:0001587	stop_gained	100129842			BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1453C>T	19.37:g.20727556G>A	ENSP00000395733:p.Arg485*	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JHM3	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R485*	ENST00000427401.4	37	c.1453	CCDS54238.1	19	.	.	.	.	.	.	.	.	.	.	N	13.83	2.355188	0.41700	7.23E-4	0.0	ENSG00000237440	ENST00000427401	.	.	.	0.867	-1.73	0.08081	.	.	.	.	.	.	.	.	.	.	.	0.46927	D	0.999256	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.537	0.22359	0.0:0.5754:0.4246:0.0	.	.	.	.	X	485	.	ENSP00000395733:R485X	R	-	1	2	ZNF737	20519396	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	-5.602000	0.00110	-0.926000	0.03770	-0.923000	0.02734	CGA	ZNF737	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF737	HGNC	protein_coding	OTTHUMT00000447844.2	G	NM_145289		20727556	-1	no_errors	ENST00000427401	ensembl	human	known	70_37	nonsense	SNP	0.003	A
ZNF765	91661	genome.wustl.edu	37	19	53926630	53926630	+	3'UTR	SNP	C	C	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr19:53926630C>T	ENST00000594030.1	+	0	552				ZNF765_ENST00000596086.1_3'UTR			Q7L2R6	ZN765_HUMAN	zinc finger protein 765						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GGGGCTCATGCTCTGGGGCAG	0.602																																																	0																																										SO:0001624	3_prime_UTR_variant	91661			BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000594030.1:c.*275C>T	19.37:g.53926630C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	RNA	SNP	-	NULL	ENST00000594030.1	37	NULL		19																																																																																			ZNF765	-	-		0.602	ZNF765-009	PUTATIVE	basic	protein_coding	ZNF765	HGNC	protein_coding	OTTHUMT00000464547.1	C	NM_138372		53926630	+1	no_errors	ENST00000594627	ensembl	human	known	70_37	rna	SNP	0.082	T
ZNF550	162972	genome.wustl.edu	37	19	58071046	58071046	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr19:58071046G>A	ENST00000457177.1	-	1	185	c.5C>T	c.(4-6)gCg>gTg	p.A2V	ZNF550_ENST00000325134.5_Missense_Mutation_p.A2V|ZNF550_ENST00000601415.1_Missense_Mutation_p.A2V			Q7Z398	ZN550_HUMAN	zinc finger protein 550	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTCGTCTCCGCCATCCGACC	0.711																																																	0													3.0	3.0	3.0					19																	58071046		788	1807	2595	SO:0001583	missense	162972			AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"""Zinc fingers, C2H2-type"""	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.5C>T	19.37:g.58071046G>A	ENSP00000469679:p.Ala2Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVF6|O43337|Q7Z6D7|Q8NE45	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A2V	ENST00000457177.1	37	c.5		19	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587561	0.66105	.	.	ENSG00000251369	ENST00000344222;ENST00000325134	T	0.09445	2.98	2.37	2.37	0.29283	.	.	.	.	.	T	0.14700	0.0355	.	.	.	0.27332	N	0.956749	.	.	.	.	.	.	T	0.09773	-1.0659	6	0.72032	D	0.01	.	8.3459	0.32272	0.0:0.0:1.0:0.0	.	.	.	.	V	2	ENSP00000446224:A2V	ENSP00000446224:A2V	A	-	2	0	AC003682.1	62762858	0.018000	0.18449	0.008000	0.14137	0.003000	0.03518	2.413000	0.44618	1.646000	0.50622	0.561000	0.74099	GCG	ZNF550	-	NULL		0.711	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	ZNF550	HGNC	protein_coding	OTTHUMT00000257992.2	G	NM_153231		58071046	-1	no_errors	ENST00000376230	ensembl	human	known	70_37	missense	SNP	0.008	A
ZNF786	136051	genome.wustl.edu	37	7	148768956	148768956	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr7:148768956T>A	ENST00000491431.1	-	4	972	c.908A>T	c.(907-909)aAg>aTg	p.K303M	ZNF786_ENST00000316286.9_Missense_Mutation_p.K217M|ZNF786_ENST00000451334.3_Missense_Mutation_p.K266M	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GAGGGAGCGCTTGCCGCATGG	0.697																																																	0													15.0	18.0	17.0					7																	148768956		2080	4176	6256	SO:0001583	missense	136051			AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.908A>T	7.37:g.148768956T>A	ENSP00000417470:p.Lys303Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A568|B4DMI1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K303M	ENST00000491431.1	37	c.908	CCDS47738.1	7	.	.	.	.	.	.	.	.	.	.	T	9.052	0.992389	0.18966	.	.	ENSG00000197362	ENST00000316286;ENST00000538412;ENST00000491431;ENST00000451334	T;T;T	0.08546	3.08;3.22;3.14	3.9	-7.59	0.01308	.	3.677690	0.01173	N	0.006913	T	0.13927	0.0337	M	0.91972	3.26	0.09310	N	1	B	0.19583	0.037	B	0.15484	0.013	T	0.34700	-0.9818	10	0.72032	D	0.01	-0.1788	2.0897	0.03654	0.1003:0.2314:0.2456:0.4227	.	303	Q8N393	ZN786_HUMAN	M	217;217;303;266	ENSP00000313516:K217M;ENSP00000417470:K303M;ENSP00000404984:K266M	ENSP00000313516:K217M	K	-	2	0	ZNF786	148399889	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-2.508000	0.00506	-3.121000	0.00061	AAG	ZNF786	-	NULL		0.697	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF786	HGNC	protein_coding	OTTHUMT00000352751.1	T	NM_152411		148768956	-1	no_errors	ENST00000491431	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF90	7643	genome.wustl.edu	37	19	20228733	20228733	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr19:20228733A>G	ENST00000418063.2	+	4	482	c.370A>G	c.(370-372)Aaa>Gaa	p.K124E	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	124					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						GGATGAGGGTAAAGTACACAA	0.333																																																	0													123.0	115.0	117.0					19																	20228733		692	1591	2283	SO:0001583	missense	7643			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.370A>G	19.37:g.20228733A>G	ENSP00000410466:p.Lys124Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EH87	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K124E	ENST00000418063.2	37	c.370	CCDS46028.1	19	.	.	.	.	.	.	.	.	.	.	A	6.464	0.453819	0.12283	.	.	ENSG00000213988	ENST00000418063	T	0.04654	3.58	1.34	1.34	0.21922	.	.	.	.	.	T	0.06050	0.0157	M	0.62209	1.925	0.09310	N	1	B	0.26902	0.163	B	0.19391	0.025	T	0.30679	-0.9970	9	0.45353	T	0.12	.	6.3617	0.21433	1.0:0.0:0.0:0.0	.	124	Q03938	ZNF90_HUMAN	E	124	ENSP00000410466:K124E	ENSP00000410466:K124E	K	+	1	0	ZNF90	20089733	0.000000	0.05858	0.032000	0.17829	0.032000	0.12392	0.645000	0.24782	0.156000	0.19299	0.155000	0.16302	AAA	ZNF90	-	NULL		0.333	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1	A	NM_007138		20228733	+1	no_errors	ENST00000418063	ensembl	human	known	70_37	missense	SNP	0.012	G
ZNF90	7643	genome.wustl.edu	37	19	20228749	20228749	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr19:20228749G>T	ENST00000418063.2	+	4	498	c.386G>T	c.(385-387)gGt>gTt	p.G129V	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	129					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						CACAAAAGAGGTTATAATGGA	0.323																																																	0													124.0	114.0	117.0					19																	20228749		692	1591	2283	SO:0001583	missense	7643			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.386G>T	19.37:g.20228749G>T	ENSP00000410466:p.Gly129Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EH87	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G129V	ENST00000418063.2	37	c.386	CCDS46028.1	19	.	.	.	.	.	.	.	.	.	.	G	7.828	0.719299	0.15372	.	.	ENSG00000213988	ENST00000418063	T	0.04706	3.57	0.81	0.81	0.18732	.	.	.	.	.	T	0.12050	0.0293	M	0.72118	2.19	0.09310	N	0.999998	D	0.65815	0.995	P	0.58266	0.836	T	0.14980	-1.0453	9	0.40728	T	0.16	.	4.7747	0.13173	0.0:0.0:1.0:0.0	.	129	Q03938	ZNF90_HUMAN	V	129	ENSP00000410466:G129V	ENSP00000410466:G129V	G	+	2	0	ZNF90	20089749	0.000000	0.05858	0.174000	0.22961	0.175000	0.22909	-1.952000	0.01528	0.181000	0.19994	0.184000	0.17185	GGT	ZNF90	-	NULL		0.323	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1	G	NM_007138		20228749	+1	no_errors	ENST00000418063	ensembl	human	known	70_37	missense	SNP	0.017	T
