#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_EVS_AA	i_EVS_All	i_EVS_EA	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_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACOT11	26027	genome.wustl.edu	37	1	55059698	55059698	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr1:55059698C>G	ENST00000371316.3	+	5	539	c.457C>G	c.(457-459)Cga>Gga	p.R153G	ACOT11_ENST00000343744.2_Missense_Mutation_p.R153G|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	153	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CGTGGCCCGCCGAGAGATCAC	0.617																																					Ovarian(148;1440 1861 22015 32453 51933)	dbGAP											0													56.0	57.0	57.0					1																	55059698		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.457C>G	1.37:g.55059698C>G	ENSP00000360366:p.Arg153Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_Thioestr_supf,smart_START_lipid-bd,pfscan_START_lipid-bd	p.R153G	ENST00000371316.3	37	c.457	CCDS592.1	1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271338	0.23221	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.39997	1.05;1.05	4.52	2.58	0.30949	.	0.210931	0.41823	D	0.000812	T	0.18676	0.0448	N	0.03917	-0.325	0.31582	N	0.654948	B;B	0.11235	0.004;0.002	B;B	0.13407	0.006;0.009	T	0.10359	-1.0633	10	0.34782	T	0.22	-21.7099	8.6279	0.33901	0.2548:0.5547:0.1906:0.0	.	153;153	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	G	153	ENSP00000340260:R153G;ENSP00000360366:R153G	ENSP00000340260:R153G	R	+	1	2	ACOT11	54832286	0.997000	0.39634	0.998000	0.56505	0.736000	0.42039	1.979000	0.40608	0.484000	0.27630	0.561000	0.74099	CGA	ACOT11	-	NULL	ENSG00000162390		0.617	ACOT11-001	KNOWN	basic|CCDS	protein_coding	ACOT11	HGNC	protein_coding	OTTHUMT00000027356.1	90	0.00	0	C	NM_015547		55059698	55059698	+1	no_errors	ENST00000371316	ensembl	human	known	69_37n	missense	75	13.79	12	SNP	1.000	G
ACVR1C	130399	genome.wustl.edu	37	2	158406760	158406760	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr2:158406760C>A	ENST00000243349.8	-	4	1049	c.689G>T	c.(688-690)aGa>aTa	p.R230I	ACVR1C_ENST00000335450.7_Missense_Mutation_p.R150I|ACVR1C_ENST00000409680.3_Missense_Mutation_p.R180I|ACVR1C_ENST00000348328.5_Intron	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						AAACCAAGATCTTTCATCTCT	0.433																																						dbGAP											0													171.0	170.0	170.0					2																	158406760		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.689G>T	2.37:g.158406760C>A	ENSP00000243349:p.Arg230Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R230I	ENST00000243349.8	37	c.689	CCDS2205.1	2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514043	0.85389	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000335450	D;D;D	0.93763	-3.28;-3.28;-3.28	6.16	6.16	0.99307	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000024	D	0.95752	0.8618	L	0.53780	1.695	0.80722	D	1	P;D	0.61697	0.886;0.99	B;D	0.64321	0.362;0.924	D	0.95178	0.8296	10	0.62326	D	0.03	.	20.4549	0.99139	0.0:1.0:0.0:0.0	.	150;230	Q8NER5-3;Q8NER5	.;ACV1C_HUMAN	I	230;180;150	ENSP00000243349:R230I;ENSP00000387168:R180I;ENSP00000335178:R150I	ENSP00000243349:R230I	R	-	2	0	ACVR1C	158115006	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	AGA	ACVR1C	-	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	ENSG00000123612		0.433	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1C	HGNC	protein_coding	OTTHUMT00000254924.2	518	0.19	1	C	NM_145259		158406760	158406760	-1	no_errors	ENST00000243349	ensembl	human	known	69_37n	missense	245	21.47	67	SNP	1.000	A
AHCTF1	25909	genome.wustl.edu	37	1	247014111	247014111	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr1:247014111C>A	ENST00000391829.2	-	33	5320	c.5197G>T	c.(5197-5199)Gac>Tac	p.D1733Y	AHCTF1_ENST00000326225.3_Missense_Mutation_p.D1742Y|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.D1768Y			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1733	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {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)			GAAACCACGTCATCAACCTGG	0.428																																					Colon(145;197 1800 4745 15099 26333)	dbGAP											0													50.0	48.0	48.0					1																	247014111		2203	4297	6500	-	-	-	SO:0001583	missense	0				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.5197G>T	1.37:g.247014111C>A	ENSP00000375705:p.Asp1733Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.D1742Y	ENST00000391829.2	37	c.5224		1	.	.	.	.	.	.	.	.	.	.	C	1.251	-0.618520	0.03663	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.32272	1.46;1.46;1.46	5.85	4.94	0.65067	.	0.197163	0.41001	D	0.000970	T	0.36690	0.0976	L	0.52364	1.645	0.09310	N	1	D;B;B	0.56521	0.976;0.222;0.142	P;B;B	0.52424	0.698;0.067;0.018	T	0.28396	-1.0045	10	0.62326	D	0.03	-18.592	8.7814	0.34794	0.1608:0.7619:0.0:0.0772	.	594;1768;1733	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	Y	1768;1742;1733	ENSP00000355464:D1768Y;ENSP00000355465:D1742Y;ENSP00000375705:D1733Y	ENSP00000355465:D1742Y	D	-	1	0	AHCTF1	245080734	0.290000	0.24343	0.273000	0.24645	0.040000	0.13550	2.576000	0.46033	2.816000	0.96949	0.644000	0.83932	GAC	AHCTF1	-	NULL	ENSG00000153207		0.428	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		241	0.00	0	C	NM_015446		247014111	247014111	-1	no_errors	ENST00000326225	ensembl	human	known	69_37n	missense	212	13.47	33	SNP	0.030	A
AKR1CL1	340811	genome.wustl.edu	37	10	5200861	5200861	+	IGR	SNP	C	C	A	rs2020172	byFrequency	TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr10:5200861C>A	ENST00000334314.3	-	0	492				AKR1CL1_ENST00000465430.1_Intron			Q5T2L2	AKCL1_HUMAN	aldo-keto reductase family 1, member C-like 1							cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTTGGACTTGCAGAACTCCAG	0.448													C|||	864	0.172524	0.1732	0.183	5008	,	,		17338	0.0		0.3579	False		,,,				2504	0.1513				Ovarian(129;1623 1737 25446 28757 47467)	dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0					10p15.2	2014-05-06			ENSG00000196326	ENSG00000264006			23469	protein-coding gene	gene with protein product						15164054	Standard	NR_027916		Approved		uc009xhz.2	Q5T2L2	OTTHUMG00000184213		10.37:g.5200861C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF66|Q6ZN81	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.C34F	ENST00000334314.3	37	c.101		10	440	0.20146520146520147	99	0.20121951219512196	81	0.22375690607734808	0	0.0	260	0.34300791556728233	C	19.60	3.858582	0.71834	.	.	ENSG00000196326	ENST00000473890	T	0.28454	1.61	3.73	3.73	0.42828	.	0.000000	0.64402	U	0.000012	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.31752	-0.9932	6	0.87932	D	0	.	13.7685	0.63010	0.0:1.0:0.0:0.0	rs2020172;rs2020172	.	.	.	F	34	ENSP00000417959:C34F	ENSP00000417959:C34F	C	-	2	0	AKR1CL1	5190861	1.000000	0.71417	0.989000	0.46669	0.951000	0.60555	3.694000	0.54742	2.014000	0.59158	0.484000	0.47621	TGC	AKR1CL1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	ENSG00000196326		0.448	AKR1CL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	AKR1CL1	HGNC	protein_coding		11	0.00	0	C	NR_027916		5200861	5200861	-1	no_errors	ENST00000473890	ensembl	human	novel	69_37n	missense	10	28.57	4	SNP	1.000	A
BCAS1	8537	genome.wustl.edu	37	20	52570137	52570137	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr20:52570137G>T	ENST00000395961.3	-	11	1680	c.1514C>A	c.(1513-1515)tCa>tAa	p.S505*	BCAS1_ENST00000371440.3_Nonsense_Mutation_p.S514*|BCAS1_ENST00000434986.2_Nonsense_Mutation_p.S171*|BCAS1_ENST00000371435.2_Nonsense_Mutation_p.S427*	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	505						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTCGGCTGCTGACTTCTTGTC	0.532																																						dbGAP											0													258.0	198.0	218.0					20																	52570137		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1514C>A	20.37:g.52570137G>T	ENSP00000379290:p.Ser505*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG5|Q68CZ3	Nonsense_Mutation	SNP	NULL	p.S514*	ENST00000395961.3	37	c.1541	CCDS13444.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.822935|5.822935	0.96989|0.96989	.|.	.|.	ENSG00000064787|ENSG00000064787	ENST00000422805|ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986	.|.	.|.	.|.	5.17|5.17	4.2|4.2	0.49525|0.49525	.|.	.|0.901395	.|0.09453	.|N	.|0.800181	T|.	0.24084|.	0.0583|.	.|.	.|.	.|.	0.30349|0.30349	N|N	0.784984|0.784984	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15838|.	-1.0423|.	4|.	.|0.07644	.|T	.|0.81	0.1468|0.1468	10.3158|10.3158	0.43736|0.43736	0.0953:0.0:0.9047:0.0|0.0953:0.0:0.9047:0.0	.|.	.|.	.|.	.|.	K|X	168|376;514;305;505;427;171	.|.	.|ENSP00000360490:S427X	Q|S	-|-	1|2	0|0	BCAS1|BCAS1	52003544|52003544	0.299000|0.299000	0.24426|0.24426	0.006000|0.006000	0.13384|0.13384	0.067000|0.067000	0.16453|0.16453	4.148000|4.148000	0.58085|0.58085	1.105000|1.105000	0.41606|0.41606	0.555000|0.555000	0.69702|0.69702	CAG|TCA	BCAS1	-	NULL	ENSG00000064787		0.532	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAS1	HGNC	protein_coding	OTTHUMT00000079766.2	704	0.14	1	G	NM_003657		52570137	52570137	-1	no_errors	ENST00000371440	ensembl	human	known	69_37n	nonsense	446	32.93	219	SNP	0.006	T
BCAT1	586	genome.wustl.edu	37	12	24970952	24970952	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr12:24970952A>G	ENST00000261192.7	-	11	1677	c.1151T>C	c.(1150-1152)gTg>gCg	p.V384A	BCAT1_ENST00000539282.1_Missense_Mutation_p.V396A|BCAT1_ENST00000538118.1_Missense_Mutation_p.V383A|BCAT1_ENST00000342945.5_Missense_Mutation_p.V323A|BCAT1_ENST00000539780.1_Missense_Mutation_p.V347A	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	384					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	TCAGGATAGCACAATTGTCCA	0.388																																						dbGAP											0													173.0	162.0	165.0					12																	24970952		1903	4139	6042	-	-	-	SO:0001583	missense	0				CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.1151T>C	12.37:g.24970952A>G	ENSP00000261192:p.Val384Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Missense_Mutation	SNP	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	p.V384A	ENST00000261192.7	37	c.1151	CCDS44845.1	12	.	.	.	.	.	.	.	.	.	.	A	14.25	2.479082	0.44044	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780	T;T;T;T;T	0.19669	2.17;2.16;2.13;2.16;2.13	5.6	-1.94	0.07571	.	1.207940	0.05737	N	0.600623	T	0.14657	0.0354	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.15930	0.007;0.015;0.006;0.001;0.007	B;B;B;B;B	0.25987	0.02;0.065;0.014;0.013;0.023	T	0.37291	-0.9712	10	0.13108	T	0.6	-17.2164	4.5065	0.11891	0.5163:0.0:0.3128:0.1709	.	347;396;323;384;383	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	A	384;383;323;396;347	ENSP00000261192:V384A;ENSP00000440817:V383A;ENSP00000339805:V323A;ENSP00000443459:V396A;ENSP00000440827:V347A	ENSP00000261192:V384A	V	-	2	0	BCAT1	24862219	0.002000	0.14202	0.000000	0.03702	0.169000	0.22640	1.751000	0.38339	-0.315000	0.08703	0.528000	0.53228	GTG	BCAT1	-	superfamily_Aminotrans_IV,pirsf_B_amino_transII	ENSG00000060982		0.388	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BCAT1	HGNC	protein_coding	OTTHUMT00000402080.1	418	0.00	0	A	NM_005504		24970952	24970952	-1	no_errors	ENST00000261192	ensembl	human	known	69_37n	missense	407	11.11	51	SNP	0.000	G
BRAF	673	genome.wustl.edu	37	7	140476796	140476796	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr7:140476796A>G	ENST00000288602.6	-	13	1670	c.1610T>C	c.(1609-1611)tTg>tCg	p.L537S		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	537	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	ATGGTGATACAAGCTGGAGCC	0.433		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	dbGAP		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	0													129.0	115.0	120.0					7																	140476796		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1610T>C	7.37:g.140476796A>G	ENSP00000288602:p.Leu537Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.L537S	ENST00000288602.6	37	c.1610	CCDS5863.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.6|24.6	4.544067|4.544067	0.86022|0.86022	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.99845	.|-7.12	5.68|5.68	5.68|5.68	0.88126|0.88126	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99869|0.99869	0.9938|0.9938	M|M	0.93462|0.93462	3.42|3.42	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.96440|0.96440	0.9326|0.9326	5|10	.|0.87932	.|D	.|0	.|.	15.9835|15.9835	0.80130|0.80130	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|537	.|P15056	.|BRAF_HUMAN	R|S	145|537	.|ENSP00000288602:L537S	.|ENSP00000288602:L537S	C|L	-|-	1|2	0|0	BRAF|BRAF	140123265|140123265	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	9.307000|9.307000	0.96226|0.96226	2.184000|2.184000	0.69523|0.69523	0.477000|0.477000	0.44152|0.44152	TGT|TTG	BRAF	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000157764		0.433	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAF	HGNC	protein_coding	OTTHUMT00000348886.1	167	0.00	0	A	NM_004333		140476796	140476796	-1	no_errors	ENST00000288602	ensembl	human	known	69_37n	missense	112	20.42	29	SNP	1.000	G
ZGRF1	55345	genome.wustl.edu	37	4	113484412	113484412	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr4:113484412delG	ENST00000505019.1	-	17	4582	c.4457delC	c.(4456-4458)tcafs	p.S1486fs		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1486						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TAGGGTTTTTGAAACCACCCA	0.303																																						dbGAP											0													50.0	55.0	53.0					4																	113484412		1680	2992	4672	-	-	-	SO:0001589	frameshift_variant	0																														ENST00000505019.1:c.4457delC	4.37:g.113484412delG	ENSP00000424737:p.Ser1486fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Frame_Shift_Del	DEL	pfam_DUF2439,pfam_Znf_GRF	p.S1486fs	ENST00000505019.1	37	c.4457		4																																																																																			C4orf21	-	NULL	ENSG00000138658		0.303	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	172	0.00	0	G			113484412	113484412	-1	no_errors	ENST00000505019	ensembl	human	known	69_37n	frame_shift_del	87	15.24	16	DEL	1.000	-
CACNA1B	774	genome.wustl.edu	37	9	140938304	140938304	+	Missense_Mutation	SNP	G	G	A	rs201992155		TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr9:140938304G>A	ENST00000371372.1	+	21	3510	c.3365G>A	c.(3364-3366)cGg>cAg	p.R1122Q	CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1123Q|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1122Q|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1123Q|CACNA1B_ENST00000545473.1_Missense_Mutation_p.R148Q|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1122Q|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R314Q	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1122					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCGGCCCCCGGCCTATCGTC	0.602																																						dbGAP											0													252.0	285.0	274.0					9																	140938304		2127	4226	6353	-	-	-	SO:0001583	missense	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3365G>A	9.37:g.140938304G>A	ENSP00000360423:p.Arg1122Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.R1123Q	ENST00000371372.1	37	c.3368	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414773	0.83449	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000545473	T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18	4.95	4.95	0.65309	.	0.267208	0.34268	N	0.004105	T	0.42200	0.1192	L	0.50333	1.59	0.58432	D	0.999999	D;D;D	0.67145	0.996;0.988;0.988	P;P;P	0.54815	0.761;0.709;0.709	T	0.30995	-0.9959	10	0.49607	T	0.09	.	7.6818	0.28518	0.1806:0.0:0.8194:0.0	.	1122;1123;1122	B1AQK4;B1AQK7;B1AQK6	.;.;.	Q	1122;1122;314;1122;1123;1123;148	ENSP00000360423:R1122Q;ENSP00000277551:R1122Q;ENSP00000277549:R314Q;ENSP00000360414:R1122Q;ENSP00000360408:R1123Q;ENSP00000360406:R1123Q;ENSP00000441232:R148Q	ENSP00000277549:R314Q	R	+	2	0	CACNA1B	140058125	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	4.758000	0.62220	2.274000	0.75844	0.561000	0.74099	CGG	CACNA1B	-	NULL	ENSG00000148408		0.602	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	363	0.00	0	G	NM_000718		140938304	140938304	+1	no_errors	ENST00000371355	ensembl	human	known	69_37n	missense	117	50.83	122	SNP	0.998	A
CACNA1F	778	genome.wustl.edu	37	X	49065116	49065116	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chrX:49065116C>T	ENST00000376265.2	-	43	5076	c.5015G>A	c.(5014-5016)cGc>cAc	p.R1672H	CACNA1F_ENST00000376251.1_Missense_Mutation_p.R1607H|CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1661H	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1672					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAGCCCCGGCGAGCTGAGGG	0.567													C|||	1	0.000264901	0.0	0.0	3775	,	,		9972	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													56.0	52.0	53.0					X																	49065116		2203	4300	6503	-	-	-	SO:0001583	missense	0			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5015G>A	X.37:g.49065116C>T	ENSP00000365441:p.Arg1672His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R1672H	ENST00000376265.2	37	c.5015	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	C	8.267	0.812513	0.16537	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96459	-4.02;-3.94;-3.94	5.01	2.24	0.28232	.	3.067170	0.01074	N	0.004868	D	0.93713	0.7991	L	0.43152	1.355	0.27267	N	0.958486	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.0	T	0.81540	-0.0886	10	0.23302	T	0.38	.	7.3869	0.26888	0.0:0.7024:0.0:0.2976	.	1661;1672	F5CIQ9;O60840	.;CAC1F_HUMAN	H	1607;1661;1672	ENSP00000365427:R1607H;ENSP00000321618:R1661H;ENSP00000365441:R1672H	ENSP00000321618:R1661H	R	-	2	0	CACNA1F	48952060	0.286000	0.24305	0.245000	0.24217	0.198000	0.23893	0.334000	0.19787	0.197000	0.20387	0.600000	0.82982	CGC	CACNA1F	-	NULL	ENSG00000102001		0.567	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	128	0.00	0	C	NM_005183		49065116	49065116	-1	no_errors	ENST00000376265	ensembl	human	known	69_37n	missense	67	26.88	25	SNP	0.416	T
CHRNB2	1141	genome.wustl.edu	37	1	154543672	154543672	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr1:154543672G>A	ENST00000368476.3	+	5	637	c.373G>A	c.(373-375)Ggc>Agc	p.G125S		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	125					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	CAGTGCTGACGGCATGTACGA	0.552																																						dbGAP											0													142.0	132.0	135.0					1																	154543672		2203	4300	6503	-	-	-	SO:0001583	missense	0			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.373G>A	1.37:g.154543672G>A	ENSP00000357461:p.Gly125Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UEH9	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.G125S	ENST00000368476.3	37	c.373	CCDS1070.1	1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660945	0.88154	.	.	ENSG00000160716	ENST00000368476	T	0.79352	-1.26	4.12	4.12	0.48240	Neurotransmitter-gated ion-channel ligand-binding (3);	0.056908	0.64402	D	0.000001	D	0.85737	0.5766	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88203	0.2885	10	0.87932	D	0	.	16.1364	0.81491	0.0:0.0:1.0:0.0	.	125	P17787	ACHB2_HUMAN	S	125	ENSP00000357461:G125S	ENSP00000357461:G125S	G	+	1	0	CHRNB2	152810296	1.000000	0.71417	0.995000	0.50966	0.851000	0.48451	9.551000	0.98112	2.100000	0.63781	0.563000	0.77884	GGC	CHRNB2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel	ENSG00000160716		0.552	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	HGNC	protein_coding	OTTHUMT00000090697.1	74	0.00	0	G	NM_000748		154543672	154543672	+1	no_errors	ENST00000368476	ensembl	human	known	69_37n	missense	57	43.00	43	SNP	1.000	A
CLUL1	27098	genome.wustl.edu	37	18	618062	618062	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr18:618062C>T	ENST00000400606.2	+	2	207	c.62C>T	c.(61-63)gCa>gTa	p.A21V	CLUL1_ENST00000338387.7_Missense_Mutation_p.A21V|CLUL1_ENST00000581619.1_Missense_Mutation_p.A46V|CLUL1_ENST00000540035.1_Missense_Mutation_p.A73V|CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000579494.1_Missense_Mutation_p.A21V	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	21					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						AGTCACTGCGCACCCACTTGG	0.468																																						dbGAP											0													133.0	136.0	135.0					18																	618062		2021	4187	6208	-	-	-	SO:0001583	missense	0			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.62C>T	18.37:g.618062C>T	ENSP00000383449:p.Ala21Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0FDN7	Missense_Mutation	SNP	pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C	p.A21V	ENST00000400606.2	37	c.62	CCDS42405.1	18	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547662	0.65311	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.26957	1.7;2.17;1.7	5.68	4.81	0.61882	.	0.172835	0.51477	D	0.000093	T	0.26484	0.0647	L	0.36672	1.1	0.40786	D	0.983214	P;D	0.53312	0.946;0.959	P;P	0.48677	0.586;0.503	T	0.03043	-1.1079	10	0.48119	T	0.1	-5.106	10.1367	0.42710	0.0:0.8463:0.0:0.1537	.	73;21	F5GWQ8;Q15846	.;CLUL1_HUMAN	V	21;73;21	ENSP00000383449:A21V;ENSP00000441726:A73V;ENSP00000341128:A21V	ENSP00000341128:A21V	A	+	2	0	CLUL1	608062	0.999000	0.42202	0.974000	0.42286	0.822000	0.46500	3.253000	0.51469	1.407000	0.46875	0.591000	0.81541	GCA	CLUL1	-	pfam_Clusterin-like	ENSG00000079101		0.468	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLUL1	HGNC	protein_coding	OTTHUMT00000441183.1	306	0.00	0	C			618062	618062	+1	no_errors	ENST00000338387	ensembl	human	known	69_37n	missense	212	17.19	44	SNP	0.996	T
COPG1	22820	genome.wustl.edu	37	3	128996136	128996136	+	Splice_Site	SNP	G	G	C			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr3:128996136G>C	ENST00000314797.6	+	24	2598		c.e24-1		HMCES_ENST00000383463.4_5'Flank|HMCES_ENST00000389735.3_5'Flank|HMCES_ENST00000417226.2_5'Flank|HMCES_ENST00000502878.2_5'Flank	NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1						COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										TTCCCTTCTAGGTGTGTTCCG	0.542																																						dbGAP											0													181.0	168.0	173.0					3																	128996136		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.2495-1G>C	3.37:g.128996136G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6M8|B3KMF6|Q54AC4	Splice_Site	SNP	-	e24-1	ENST00000314797.6	37	c.2495-1	CCDS33851.1	3	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374883	0.82573	.	.	ENSG00000181789	ENST00000314797;ENST00000509889	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9981	0.86373	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COPG	130478826	1.000000	0.71417	0.995000	0.50966	0.892000	0.51952	9.516000	0.98017	2.626000	0.88956	0.484000	0.47621	.	COPG1	-	-	ENSG00000181789		0.542	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPG1	HGNC	protein_coding	OTTHUMT00000355456.1	544	0.00	0	G	NM_016128	Intron	128996136	128996136	+1	no_errors	ENST00000314797	ensembl	human	known	69_37n	splice_site	250	24.24	80	SNP	1.000	C
CPS1	1373	genome.wustl.edu	37	2	211471611	211471611	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr2:211471611T>G	ENST00000233072.5	+	18	2334	c.2138T>G	c.(2137-2139)aTt>aGt	p.I713S	CPS1_ENST00000430249.2_Missense_Mutation_p.I719S|CPS1_ENST00000451903.2_Missense_Mutation_p.I262S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	713	ATP-grasp 1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TACTGCATCATTGAAGTGAAT	0.453																																						dbGAP											0													120.0	103.0	109.0					2																	211471611		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2138T>G	2.37:g.211471611T>G	ENSP00000233072:p.Ile713Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,prints_CbamoylP_synth_lsu_CPSase_dom,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.I719S	ENST00000233072.5	37	c.2156	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	T	24.2	4.506703	0.85282	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.98381	-4.9;-4.9;-4.9	5.53	5.53	0.82687	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);	0.000000	0.85682	D	0.000000	D	0.99510	0.9825	H	0.99712	4.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97682	1.0173	10	0.87932	D	0	-33.171	15.7064	0.77583	0.0:0.0:0.0:1.0	.	723;713	Q59HF8;P31327	.;CPSM_HUMAN	S	719;721;713;262	ENSP00000402608:I719S;ENSP00000233072:I713S;ENSP00000406136:I262S	ENSP00000233072:I713S	I	+	2	0	CPS1	211179856	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.695000	0.84257	2.115000	0.64714	0.477000	0.44152	ATT	CPS1	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,prints_CbamoylP_synth_lsu_CPSase_dom,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu	ENSG00000021826		0.453	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	185	0.00	0	T			211471611	211471611	+1	no_errors	ENST00000430249	ensembl	human	known	69_37n	missense	110	23.08	33	SNP	1.000	G
DNAH3	55567	genome.wustl.edu	37	16	20955961	20955961	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr16:20955961G>T	ENST00000261383.3	-	58	11367	c.11368C>A	c.(11368-11370)Ctc>Atc	p.L3790I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3790					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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTGATGGGGAGATTCCTGAGA	0.522																																						dbGAP											0													112.0	101.0	105.0					16																	20955961		2201	4300	6501	-	-	-	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.11368C>A	16.37:g.20955961G>T	ENSP00000261383:p.Leu3790Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.L3790I	ENST00000261383.3	37	c.11368	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	14.01	2.406883	0.42715	.	.	ENSG00000158486	ENST00000261383	T	0.20332	2.08	5.57	4.42	0.53409	Dynein heavy chain (1);	0.000000	0.64402	D	0.000008	T	0.50939	0.1645	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57441	-0.7811	10	0.66056	D	0.02	.	9.5135	0.39091	0.2009:0.0:0.7991:0.0	.	3790	Q8TD57	DYH3_HUMAN	I	3790	ENSP00000261383:L3790I	ENSP00000261383:L3790I	L	-	1	0	DNAH3	20863462	1.000000	0.71417	0.599000	0.28851	0.111000	0.19643	5.165000	0.64959	2.640000	0.89533	0.655000	0.94253	CTC	DNAH3	-	pfam_Dynein_heavy	ENSG00000158486		0.522	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	306	0.00	0	G	NM_017539		20955961	20955961	-1	no_errors	ENST00000261383	ensembl	human	known	69_37n	missense	181	24.58	59	SNP	0.648	T
DNAH9	1770	genome.wustl.edu	37	17	11522985	11522985	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr17:11522985G>T	ENST00000262442.4	+	6	1305	c.1237G>T	c.(1237-1239)Gag>Tag	p.E413*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E413*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	413	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGACAGAAGGGAGAATCTCCA	0.453																																						dbGAP											0													151.0	148.0	149.0					17																	11522985		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1237G>T	17.37:g.11522985G>T	ENSP00000262442:p.Glu413*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E413*	ENST00000262442.4	37	c.1237	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.620375	0.97709	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	.	.	.	5.98	5.0	0.66597	.	0.297676	0.33005	N	0.005399	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	15.1581	0.72759	0.0691:0.0:0.9309:0.0	.	.	.	.	X	413	.	ENSP00000262442:E413X	E	+	1	0	DNAH9	11463710	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.082000	0.57635	2.837000	0.97791	0.591000	0.81541	GAG	DNAH9	-	pfam_Dynein_heavy_dom-1	ENSG00000007174		0.453	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	145	0.00	0	G	NM_001372		11522985	11522985	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	nonsense	89	20.54	23	SNP	1.000	T
ERBB4	2066	genome.wustl.edu	37	2	212543900	212543900	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr2:212543900C>T	ENST00000342788.4	-	13	1809	c.1499G>A	c.(1498-1500)gGa>gAa	p.G500E	ERBB4_ENST00000402597.1_Missense_Mutation_p.G500E|ERBB4_ENST00000436443.1_Missense_Mutation_p.G500E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	500	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GCACACCATTCCTTCAGCAGC	0.453										TSP Lung(8;0.080)																												dbGAP											0													77.0	70.0	72.0					2																	212543900		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1499G>A	2.37:g.212543900C>T	ENSP00000342235:p.Gly500Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G500E	ENST00000342788.4	37	c.1499	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.81|14.81	2.646291|2.646291	0.47258|0.47258	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597	.|T;T;T	.|0.42900	.|0.96;0.96;0.96	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|0.226623	.|0.46758	.|D	.|0.000261	T|T	0.51398|0.51398	0.1672|0.1672	L|L	0.58669|0.58669	1.825|1.825	0.45806|0.45806	D|D	0.998682|0.998682	.|B;P;P;B;B	.|0.50819	.|0.051;0.85;0.939;0.051;0.03	.|B;P;B;B;B	.|0.49226	.|0.087;0.603;0.434;0.047;0.028	T|T	0.56306|0.56306	-0.8001|-0.8001	5|10	.|0.87932	.|D	.|0	.|.	17.7998|17.7998	0.88583|0.88583	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|500;500;359;500;500	.|Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.|.;.;.;.;ERBB4_HUMAN	K|E	500|500	.|ENSP00000342235:G500E;ENSP00000403204:G500E;ENSP00000385565:G500E	.|ENSP00000342235:G500E	E|G	-|-	1|2	0|0	ERBB4|ERBB4	212252145|212252145	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	1.951000|1.951000	0.40333|0.40333	2.495000|2.495000	0.84180|0.84180	0.591000|0.591000	0.81541|0.81541	GAA|GGA	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,smart_Furin_repeat	ENSG00000178568		0.453	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	181	0.00	0	C	NM_001042599		212543900	212543900	-1	no_errors	ENST00000342788	ensembl	human	known	69_37n	missense	100	18.70	23	SNP	1.000	T
EYS	346007	genome.wustl.edu	37	6	65301142	65301142	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr6:65301142T>G	ENST00000370621.3	-	26	5144	c.4618A>C	c.(4618-4620)Aac>Cac	p.N1540H	EYS_ENST00000370616.2_Missense_Mutation_p.N1540H|EYS_ENST00000503581.1_Missense_Mutation_p.N1540H			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1540					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GATTTGATGTTTGTGAGTCTC	0.403																																						dbGAP											0													55.0	46.0	48.0					6																	65301142		692	1590	2282	-	-	-	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4618A>C	6.37:g.65301142T>G	ENSP00000359655:p.Asn1540His	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.N1540H	ENST00000370621.3	37	c.4618		6	.	.	.	.	.	.	.	.	.	.	T	15.71	2.914535	0.52546	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.84070	-1.8;-1.78;-1.78	5.84	5.84	0.93424	.	.	.	.	.	T	0.75627	0.3875	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.956	T	0.82888	-0.0234	9	0.62326	D	0.03	.	11.171	0.48571	0.0:0.0:0.1535:0.8465	.	1540;1540	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	H	1540	ENSP00000424243:N1540H;ENSP00000359655:N1540H;ENSP00000359650:N1540H	ENSP00000359650:N1540H	N	-	1	0	EYS	65357863	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.442000	0.52900	2.243000	0.73865	0.482000	0.46254	AAC	EYS	-	NULL	ENSG00000188107		0.403	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	123	0.00	0	T	XM_294050		65301142	65301142	-1	no_errors	ENST00000370616	ensembl	human	known	69_37n	missense	78	36.29	45	SNP	1.000	G
GRID2	2895	genome.wustl.edu	37	4	94547528	94547529	+	Missense_Mutation	DNP	CG	CG	GA			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	C|G	C|G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr4:94547528_94547529CG>GA	ENST00000282020.4	+	14	2560_2561	c.2302_2303CG>GA	c.(2302-2304)CGg>GAg	p.R768E	GRID2_ENST00000510992.1_Missense_Mutation_p.R673E	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	768					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TGTTGCTGATCGGGGATATGGA	0.386																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	Exception_encountered	4.37:g.94547528_94547529delinsGA	ENSP00000282020:p.Arg768Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R768G|p.R768Q	ENST00000282020.4	37	c.2302|c.2303	CCDS3637.1	4																																																																																			GRID2	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000152208		0.386	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	486	0.00	0	C|G			94547528|94547529	94547528|94547529	+1	no_errors	ENST00000282020	ensembl	human	known	69_37n	missense	293|290	18.78|18.99	68	SNP	1.000	G|A
ITGA1	3672	genome.wustl.edu	37	5	52216261	52216261	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr5:52216261G>A	ENST00000282588.6	+	17	2713	c.2255G>A	c.(2254-2256)cGa>cAa	p.R752Q		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	752					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ATCACAGTTCGAAAATCAGAA	0.378																																						dbGAP											0													120.0	111.0	114.0					5																	52216261		2203	4300	6503	-	-	-	SO:0001583	missense	0			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2255G>A	5.37:g.52216261G>A	ENSP00000282588:p.Arg752Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNU0	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.R752Q	ENST00000282588.6	37	c.2255	CCDS3955.1	5	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909553	0.33721	.	.	ENSG00000213949	ENST00000282588	T	0.46063	0.88	6.08	-0.0618	0.13783	Integrin alpha-2 (1);	1.046220	0.07413	N	0.892776	T	0.30603	0.0770	L	0.38175	1.15	0.21499	N	0.99967	B	0.20164	0.042	B	0.17098	0.017	T	0.25779	-1.0122	10	0.37606	T	0.19	.	5.6878	0.17813	0.5199:0.0:0.3449:0.1352	.	752	P56199	ITA1_HUMAN	Q	752	ENSP00000282588:R752Q	ENSP00000282588:R752Q	R	+	2	0	ITGA1	52252018	0.040000	0.19996	0.080000	0.20451	0.988000	0.76386	0.421000	0.21280	-0.316000	0.08690	0.591000	0.81541	CGA	ITGA1	-	pfam_Integrin_alpha-2	ENSG00000213949		0.378	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	HGNC	protein_coding	OTTHUMT00000253855.3	320	0.00	0	G	NM_181501		52216261	52216261	+1	no_errors	ENST00000282588	ensembl	human	known	69_37n	missense	146	36.52	84	SNP	0.265	A
HAVCR1	26762	genome.wustl.edu	37	5	156464344	156464344	+	Missense_Mutation	SNP	G	G	A	rs200398021		TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr5:156464344G>A	ENST00000339252.3	-	6	1398	c.866C>T	c.(865-867)aCg>aTg	p.T289M	HAVCR1_ENST00000544197.1_Missense_Mutation_p.T289M|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T289M|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T289M|HAVCR1_ENST00000522693.1_Missense_Mutation_p.T289M|HAVCR1_ENST00000517644.1_5'UTR	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	284					viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTATTGGCCGTCAGTAGACT	0.388													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22256	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													127.0	120.0	122.0					5																	156464344		1884	4139	6023	-	-	-	SO:0001583	missense	0			AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.866C>T	5.37:g.156464344G>A	ENSP00000344844:p.Thr289Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O43656	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.T289M	ENST00000339252.3	37	c.866	CCDS43392.1	5	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	1.815	-0.473589	0.04445	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197	T;T;T;T;T	0.15718	2.4;2.47;2.47;2.4;2.47	3.87	-7.75	0.01236	.	2.822670	0.00998	N	0.003634	T	0.04137	0.0115	N	0.00841	-1.15	0.09310	N	1	B;B;B	0.18610	0.005;0.029;0.029	B;B;B	0.06405	0.001;0.002;0.002	T	0.32107	-0.9919	10	0.25751	T	0.34	-4.3298	3.5024	0.07677	0.1658:0.3525:0.3657:0.1161	.	289;284;284	E9PFX0;F1CME6;Q96D42	.;.;HAVR1_HUMAN	M	289	ENSP00000428524:T289M;ENSP00000427898:T289M;ENSP00000344844:T289M;ENSP00000403333:T289M;ENSP00000440258:T289M	ENSP00000344844:T289M	T	-	2	0	HAVCR1	156396922	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.206000	0.00274	-2.341000	0.00625	-1.731000	0.00696	ACG	HAVCR1	-	NULL	ENSG00000113249		0.388	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HAVCR1	HGNC	protein_coding	OTTHUMT00000373698.1	274	0.00	0	G			156464344	156464344	-1	no_errors	ENST00000425854	ensembl	human	known	69_37n	missense	120	11.76	16	SNP	0.000	A
KDM3A	55818	genome.wustl.edu	37	2	86705821	86705821	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr2:86705821T>G	ENST00000409556.1	+	16	2644	c.2279T>G	c.(2278-2280)cTc>cGc	p.L760R	KDM3A_ENST00000542128.1_Missense_Mutation_p.L708R|KDM3A_ENST00000409064.1_Missense_Mutation_p.L760R|KDM3A_ENST00000312912.5_Missense_Mutation_p.L760R			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	760					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CAATTCAAACTCTTTTCAAAG	0.358																																					NSCLC(96;1150 1523 6936 46253 49736)	dbGAP											0													106.0	95.0	99.0					2																	86705821		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2279T>G	2.37:g.86705821T>G	ENSP00000386660:p.Leu760Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.L760R	ENST00000409556.1	37	c.2279	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	T	15.09	2.731565	0.48939	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.58	5.58	0.84498	.	0.426837	0.21919	N	0.067195	T	0.50051	0.1593	L	0.43152	1.355	0.33428	D	0.580732	P;P	0.40332	0.713;0.59	P;B	0.45971	0.499;0.391	T	0.56171	-0.8023	10	0.11182	T	0.66	.	6.6612	0.23014	0.0:0.1697:0.0:0.8303	.	708;760	F5H070;Q9Y4C1	.;KDM3A_HUMAN	R	760;760;760;760;708	ENSP00000386660:L760R;ENSP00000323659:L760R;ENSP00000386516:L760R;ENSP00000438324:L708R	ENSP00000323659:L760R	L	+	2	0	KDM3A	86559332	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.436000	0.52856	2.131000	0.65755	0.533000	0.62120	CTC	KDM3A	-	NULL	ENSG00000115548		0.358	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	231	0.00	0	T	NM_018433		86705821	86705821	+1	no_errors	ENST00000312912	ensembl	human	known	69_37n	missense	178	14.76	31	SNP	1.000	G
LCE6A	448835	genome.wustl.edu	37	1	152816068	152816068	+	Silent	SNP	C	C	T			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr1:152816068C>T	ENST00000431011.2	+	2	237	c.72C>T	c.(70-72)aaC>aaT	p.N24N		NM_001128600.1	NP_001122072.1	A0A183	LCE6A_HUMAN	late cornified envelope 6A	24					keratinization (GO:0031424)												AAAGATCAAACCCCTGCCTAG	0.532																																						dbGAP											0													141.0	133.0	135.0					1																	152816068		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			DQ991251	CCDS44227.1	1q21.3	2011-05-24	2006-09-18	2006-09-18	ENSG00000235942	ENSG00000235942		"""Late cornified envelopes"""	31824	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 44"""	C1orf44			Standard	NM_001128600		Approved		uc001fas.4	A0A183	OTTHUMG00000012448	ENST00000431011.2:c.72C>T	1.37:g.152816068C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.N24	ENST00000431011.2	37	c.72	CCDS44227.1	1																																																																																			LCE6A	-	NULL	ENSG00000235942		0.532	LCE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE6A	HGNC	protein_coding	OTTHUMT00000034661.2	533	0.00	0	C			152816068	152816068	+1	no_errors	ENST00000431011	ensembl	human	known	69_37n	silent	433	16.86	88	SNP	0.000	T
LIG1	3978	genome.wustl.edu	37	19	48620916	48620916	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr19:48620916G>C	ENST00000263274.7	-	26	2981	c.2562C>G	c.(2560-2562)atC>atG	p.I854M	CTC-453G23.5_ENST00000596563.1_RNA|LIG1_ENST00000536218.1_Missense_Mutation_p.I786M|CTC-453G23.5_ENST00000596839.1_RNA|LIG1_ENST00000427526.2_Missense_Mutation_p.I823M	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	854					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CAGCAGGGTAGATGGGAGAGA	0.657								Nucleotide excision repair (NER)																														dbGAP											0													32.0	28.0	30.0					19																	48620916		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.2562C>G	19.37:g.48620916G>C	ENSP00000263274:p.Ile854Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold-like,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.I854M	ENST00000263274.7	37	c.2562	CCDS12711.1	19	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783469	0.49891	.	.	ENSG00000105486	ENST00000263274;ENST00000427526;ENST00000536218	T;T;T	0.63744	-0.06;-0.06;-0.06	4.71	3.65	0.41850	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.308537	0.30850	N	0.008752	T	0.48857	0.1523	L	0.33710	1.025	0.80722	D	1	B;P;P	0.39601	0.354;0.455;0.68	B;B;B	0.40444	0.329;0.314;0.329	T	0.53443	-0.8438	10	0.72032	D	0.01	-9.0706	6.5721	0.22545	0.0979:0.0:0.7203:0.1819	.	823;786;854	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	M	854;823;786	ENSP00000263274:I854M;ENSP00000442841:I823M;ENSP00000441531:I786M	ENSP00000263274:I854M	I	-	3	3	LIG1	53312728	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.384000	0.44362	2.334000	0.79466	0.561000	0.74099	ATC	LIG1	-	pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,tigrfam_DNA_ligase_ATP-dep	ENSG00000105486		0.657	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG1	HGNC	protein_coding	OTTHUMT00000465575.1	34	0.00	0	G	NM_000234		48620916	48620916	-1	no_errors	ENST00000263274	ensembl	human	known	69_37n	missense	22	26.67	8	SNP	1.000	C
MIR377	494326	genome.wustl.edu	37	14	101526096	101526096	+	RNA	SNP	T	T	C			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr14:101526096T>C	ENST00000362145.2	+	0	0				MIR154_ENST00000385243.1_RNA|MIR496_ENST00000385226.1_RNA	NR_029869.1				microRNA 377																		TAGCGTGTGGTACTTGAAGAT	0.498																																						dbGAP											0													236.0	218.0	223.0					14																	101526096		1568	3582	5150	-	-	-			0					14q32.31	2011-09-12		2008-12-18	ENSG00000199015	ENSG00000199015		"""ncRNAs / Micro RNAs"""	31870	non-coding RNA	RNA, micro				MIRN377			Standard	NR_029869		Approved	hsa-mir-377	uc010awh.1				14.37:g.101526096T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000362145.2	37	NULL		14																																																																																			MIR154	-	-	ENSG00000207978		0.498	MIR377-201	KNOWN	basic	miRNA	MIR154	HGNC	miRNA		629	0.16	1	T	NR_029869		101526096	101526096	+1	no_errors	ENST00000385243	ensembl	human	known	69_37n	rna	225	59.68	333	SNP	0.053	C
MORF4L2	9643	genome.wustl.edu	37	X	102931122	102931122	+	Silent	SNP	C	C	A			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chrX:102931122C>A	ENST00000441076.2	-	4	1138	c.834G>T	c.(832-834)gtG>gtT	p.V278V	MORF4L2_ENST00000433176.2_Silent_p.V278V|MORF4L2_ENST00000422154.2_Silent_p.V278V|MORF4L2_ENST00000492116.1_5'Flank|MORF4L2_ENST00000451301.1_Silent_p.V278V|MORF4L2_ENST00000423833.2_Silent_p.V278V|MORF4L2_ENST00000360458.1_Silent_p.V278V	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	278	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CAGCAGAAGCCACTTTGTAAT	0.403																																						dbGAP											0													109.0	110.0	110.0					X																	102931122		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.834G>T	X.37:g.102931122C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP92|D3DXA5|Q567V0|Q8J026	Silent	SNP	pfam_MRG,superfamily_Chromodomain-like	p.V278	ENST00000441076.2	37	c.834	CCDS14512.1	X																																																																																			MORF4L2	-	NULL	ENSG00000123562		0.403	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MORF4L2	HGNC	protein_coding	OTTHUMT00000057732.1	203	0.00	0	C	NM_012286		102931122	102931122	-1	no_errors	ENST00000360458	ensembl	human	known	69_37n	silent	77	18.95	18	SNP	1.000	A
NCCRP1	342897	genome.wustl.edu	37	19	39690990	39690990	+	Nonsense_Mutation	SNP	G	G	T	rs377562735		TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr19:39690990G>T	ENST00000339852.4	+	5	575	c.553G>T	c.(553-555)Gag>Tag	p.E185*		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	185	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						CTGCAGGTTCGAGGACAGCCG	0.647																																					Melanoma(107;1207 1556 14956 29427 52130)	dbGAP											0													69.0	78.0	75.0					19																	39690990		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.553G>T	19.37:g.39690990G>T	ENSP00000342137:p.Glu185*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NVV5	Nonsense_Mutation	SNP	pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom	p.E185*	ENST00000339852.4	37	c.553	CCDS12529.1	19	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787514	0.70337	.	.	ENSG00000188505	ENST00000339852	.	.	.	5.23	4.18	0.49190	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-33.0345	13.0085	0.58718	0.0:0.0:0.8374:0.1626	.	.	.	.	X	185	.	ENSP00000342137:E185X	E	+	1	0	NCCRP1	44382830	1.000000	0.71417	0.829000	0.32907	0.338000	0.28826	7.335000	0.79234	1.202000	0.43218	-0.310000	0.09108	GAG	NCCRP1	-	pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom	ENSG00000188505		0.647	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCCRP1	HGNC	protein_coding	OTTHUMT00000463829.1	35	0.00	0	G	NM_001001414		39690990	39690990	+1	no_errors	ENST00000339852	ensembl	human	known	69_37n	nonsense	21	19.23	5	SNP	0.988	T
NUPL2	11097	genome.wustl.edu	37	7	23224772	23224773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr7:23224772_23224773insG	ENST00000258742.5	+	2	464_465	c.205_206insG	c.(205-207)tggfs	p.W69fs	NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.W69fs|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000487595.1_3'UTR	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	69					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAGC	0.406																																						dbGAP											0										6,4258		0,6,2126						4.9	1.0			85	5,8249		0,5,4122	no	frameshift	NUPL2	NM_007342.2		0,11,6248	A1A1,A1R,RR		0.0606,0.1407,0.0879				11,12507				-	-	-	SO:0001589	frameshift_variant	0			U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.212dupG	7.37:g.23224779_23224779dupG	ENSP00000258742:p.Trp69fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D143|B4DP42|Q49AE7|Q9BS49	Frame_Shift_Ins	INS	smart_Znf_CCCH	p.S72fs	ENST00000258742.5	37	c.205_206	CCDS5379.1	7																																																																																			NUPL2	-	NULL	ENSG00000136243		0.406	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUPL2	HGNC	protein_coding	OTTHUMT00000214017.2	183	0.00	0	-	NM_007342		23224772	23224773	+1	no_errors	ENST00000258742	ensembl	human	known	69_37n	frame_shift_ins	135	10.00	15	INS	0.997:1.000	G
OR6Y1	391112	genome.wustl.edu	37	1	158517488	158517488	+	Silent	SNP	G	G	C			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr1:158517488G>C	ENST00000302617.3	-	1	407	c.408C>G	c.(406-408)cgC>cgG	p.R136R		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TGACTGGGTAGCGTAGTGGAT	0.458																																						dbGAP											0													86.0	74.0	78.0					1																	158517488		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.408C>G	1.37:g.158517488G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFS0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.R136	ENST00000302617.3	37	c.408	CCDS30899.1	1																																																																																			OR6Y1	-	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197532		0.458	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6Y1	HGNC	protein_coding	OTTHUMT00000051844.1	104	0.00	0	G	NM_001005189		158517488	158517488	-1	no_errors	ENST00000302617	ensembl	human	known	69_37n	silent	84	19.23	20	SNP	0.379	C
PCDH15	65217	genome.wustl.edu	37	10	55944938	55944938	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr10:55944938G>A	ENST00000320301.6	-	12	1790	c.1396C>T	c.(1396-1398)Ctt>Ttt	p.L466F	PCDH15_ENST00000373955.1_Missense_Mutation_p.L466F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.L473F|PCDH15_ENST00000395438.1_Missense_Mutation_p.L466F|PCDH15_ENST00000361849.3_Missense_Mutation_p.L466F|PCDH15_ENST00000395445.1_Missense_Mutation_p.L473F|PCDH15_ENST00000395433.1_Missense_Mutation_p.L444F|PCDH15_ENST00000395446.1_Missense_Mutation_p.L466F|PCDH15_ENST00000437009.1_Missense_Mutation_p.L466F|PCDH15_ENST00000395430.1_Missense_Mutation_p.L466F|PCDH15_ENST00000409834.1_Missense_Mutation_p.L77F|PCDH15_ENST00000395432.2_Missense_Mutation_p.L429F|PCDH15_ENST00000373957.3_Missense_Mutation_p.L444F|PCDH15_ENST00000414778.1_Missense_Mutation_p.L471F|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	466	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTGGTTGAAGTAAGGTGAGG	0.388										HNSCC(58;0.16)																												dbGAP											0													179.0	152.0	161.0					10																	55944938		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1396C>T	10.37:g.55944938G>A	ENSP00000322604:p.Leu466Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L466F	ENST00000320301.6	37	c.1396	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727047	0.69074	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63096	-0.02;0.65;0.65;0.0;-0.02;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.29	4.37	0.52481	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.74749	0.3757	L	0.56769	1.78	0.36486	D	0.868112	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D	0.89917	1.0;0.996;0.996;0.996;1.0;0.996;1.0;0.992;0.992;0.992;0.996;0.877;0.981;0.992;0.996	D;D;D;D;D;D;D;D;D;P;D;P;P;D;D	0.91635	0.999;0.969;0.954;0.979;0.995;0.969;0.999;0.972;0.917;0.889;0.954;0.74;0.876;0.925;0.954	T	0.79366	-0.1833	9	0.42905	T	0.14	.	14.4258	0.67215	0.0:0.0:0.8508:0.1491	.	444;466;466;471;466;429;466;466;473;473;466;471;466;444;466	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	F	473;471;466;466;77;473;466;429;466;444;444;466;466;471;466;466	ENSP00000363076:L473F;ENSP00000410304:L471F;ENSP00000378826:L466F;ENSP00000386693:L77F;ENSP00000378832:L473F;ENSP00000378833:L466F;ENSP00000378820:L429F;ENSP00000354950:L466F;ENSP00000378821:L444F;ENSP00000363068:L444F;ENSP00000322604:L466F;ENSP00000378818:L466F;ENSP00000412628:L466F;ENSP00000363066:L466F	ENSP00000322604:L466F	L	-	1	0	PCDH15	55614944	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.790000	0.62453	1.347000	0.45714	0.591000	0.81541	CTT	PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000150275		0.388	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	374	0.00	0	G	NM_033056		55944938	55944938	-1	no_errors	ENST00000320301	ensembl	human	known	69_37n	missense	249	17.55	53	SNP	1.000	A
PPP1R10	5514	genome.wustl.edu	37	6	30571347	30571347	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr6:30571347C>T	ENST00000376511.2	-	16	2221	c.1669G>A	c.(1669-1671)Gtt>Att	p.V557I		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	557	Gly-rich.|Interaction with WDR82. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TTGGCCAGAACTGGAGGCAAC	0.567																																						dbGAP											0													109.0	114.0	112.0					6																	30571347		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1669G>A	6.37:g.30571347C>T	ENSP00000365694:p.Val557Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O00405	Missense_Mutation	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.V557I	ENST00000376511.2	37	c.1669	CCDS4681.1	6	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855960	0.71834	.	.	ENSG00000204569	ENST00000376511	T	0.26810	1.71	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.19287	0.0463	N	0.19112	0.55	0.58432	D	0.999998	D	0.58970	0.984	D	0.70016	0.967	T	0.02031	-1.1226	10	0.06891	T	0.86	-12.391	16.924	0.86170	0.0:1.0:0.0:0.0	.	557	Q96QC0	PP1RA_HUMAN	I	557	ENSP00000365694:V557I	ENSP00000365694:V557I	V	-	1	0	PPP1R10	30679326	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	6.903000	0.75703	2.348000	0.79779	0.313000	0.20887	GTT	PPP1R10	-	NULL	ENSG00000204569		0.567	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	HGNC	protein_coding	OTTHUMT00000076556.2	36	0.00	0	C	NM_002714		30571347	30571347	-1	no_errors	ENST00000376511	ensembl	human	known	69_37n	missense	36	18.18	8	SNP	0.999	T
PSMC4	5704	genome.wustl.edu	37	19	40480708	40480708	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr19:40480708G>A	ENST00000157812.2	+	6	844	c.646G>A	c.(646-648)Gca>Aca	p.A216T	PSMC4_ENST00000455878.2_Missense_Mutation_p.A185T	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	216					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GACCATGTTGGCAAAGGCGGT	0.612																																					Colon(105;1478 1543 4034 6132 38638)	dbGAP											0													89.0	77.0	81.0					19																	40480708		2203	4300	6503	-	-	-	SO:0001583	missense	0			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.646G>A	19.37:g.40480708G>A	ENSP00000157812:p.Ala216Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.A216T	ENST00000157812.2	37	c.646	CCDS12547.1	19	.	.	.	.	.	.	.	.	.	.	g	19.72	3.880588	0.72294	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.97114	-4.25;-4.25	4.77	4.77	0.60923	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.051876	0.85682	D	0.000000	D	0.98626	0.9540	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.984;0.997	D	0.99675	1.0997	10	0.87932	D	0	-13.3882	15.6412	0.77006	0.0:0.0:1.0:0.0	.	185;216	P43686-2;P43686	.;PRS6B_HUMAN	T	216;185	ENSP00000157812:A216T;ENSP00000413869:A185T	ENSP00000157812:A216T	A	+	1	0	PSMC4	45172548	1.000000	0.71417	0.971000	0.41717	0.038000	0.13279	9.176000	0.94839	2.343000	0.79666	0.561000	0.74099	GCA	PSMC4	-	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	ENSG00000013275		0.612	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC4	HGNC	protein_coding	OTTHUMT00000462485.1	131	0.00	0	G	NM_006503		40480708	40480708	+1	no_errors	ENST00000157812	ensembl	human	known	69_37n	missense	84	22.22	24	SNP	1.000	A
RB1CC1	9821	genome.wustl.edu	37	8	53569190	53569190	+	Nonsense_Mutation	SNP	T	T	A			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr8:53569190T>A	ENST00000025008.5	-	15	3722	c.3199A>T	c.(3199-3201)Aag>Tag	p.K1067*	RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.K1067*|RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.K1067*|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1067					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TCTGCTTCCTTCAACGCAAGT	0.368																																					GBM(180;1701 2102 13475 42023 52570)	dbGAP											0													69.0	71.0	70.0					8																	53569190		2201	4297	6498	-	-	-	SO:0001587	stop_gained	0			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.3199A>T	8.37:g.53569190T>A	ENSP00000025008:p.Lys1067*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YR4|Q8WVU9|Q92601	Nonsense_Mutation	SNP	pfam_Autophagy-rel_p11	p.K1067*	ENST00000025008.5	37	c.3199	CCDS34892.1	8	.	.	.	.	.	.	.	.	.	.	T	45	12.002700	0.99626	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.7822	15.726	0.77761	0.0:0.0:0.0:1.0	.	.	.	.	X	1067	.	ENSP00000025008:K1067X	K	-	1	0	RB1CC1	53731743	1.000000	0.71417	0.991000	0.47740	0.962000	0.63368	7.369000	0.79578	2.185000	0.69588	0.528000	0.53228	AAG	RB1CC1	-	NULL	ENSG00000023287		0.368	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	267	0.00	0	T	NM_014781		53569190	53569190	-1	no_errors	ENST00000025008	ensembl	human	known	69_37n	nonsense	206	29.59	87	SNP	1.000	A
RWDD2A	112611	genome.wustl.edu	37	6	83905471	83905471	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr6:83905471T>A	ENST00000369724.4	+	3	564	c.359T>A	c.(358-360)gTa>gAa	p.V120E	PGM3_ENST00000283977.4_5'Flank|PGM3_ENST00000506587.1_5'Flank|PGM3_ENST00000512866.1_5'Flank|PGM3_ENST00000513973.1_5'Flank|RWDD2A_ENST00000539997.1_Missense_Mutation_p.V66E	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	120	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		GAGCTCTGTGTATGTGCAGCA	0.443																																						dbGAP											0													146.0	135.0	139.0					6																	83905471		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC010930	CCDS4998.1	6q15	2012-12-07	2007-07-17	2007-07-17	ENSG00000013392	ENSG00000013392			21385	protein-coding gene	gene with protein product			"""RWD domain containing 2"""	RWDD2			Standard	NM_033411		Approved	MGC13523, dJ747H23.2	uc003pjx.4	Q9UIY3	OTTHUMG00000015109	ENST00000369724.4:c.359T>A	6.37:g.83905471T>A	ENSP00000358739:p.Val120Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIQ3|E1P548|Q2M3R3|Q96FH1	Missense_Mutation	SNP	pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain	p.V120E	ENST00000369724.4	37	c.359	CCDS4998.1	6	.	.	.	.	.	.	.	.	.	.	T	17.10	3.303666	0.60305	.	.	ENSG00000013392	ENST00000369724;ENST00000539997	T;T	0.28069	1.63;1.63	5.38	5.38	0.77491	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.305504	0.27691	N	0.018253	T	0.37945	0.1022	L	0.52573	1.65	0.51482	D	0.999925	P	0.49185	0.92	P	0.59761	0.863	T	0.22591	-1.0212	10	0.87932	D	0	-21.3157	15.566	0.76294	0.0:0.0:0.0:1.0	.	120	Q9UIY3	RWD2A_HUMAN	E	120;66	ENSP00000358739:V120E;ENSP00000442731:V66E	ENSP00000358739:V120E	V	+	2	0	RWDD2A	83962190	1.000000	0.71417	0.016000	0.15963	0.111000	0.19643	7.333000	0.79214	2.254000	0.74563	0.533000	0.62120	GTA	RWDD2A	-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain	ENSG00000013392		0.443	RWDD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RWDD2A	HGNC	protein_coding	OTTHUMT00000041348.2	235	0.00	0	T	NM_033411		83905471	83905471	+1	no_errors	ENST00000369724	ensembl	human	known	69_37n	missense	153	35.17	83	SNP	0.812	A
SCPEP1	59342	genome.wustl.edu	37	17	55058560	55058560	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr17:55058560T>A	ENST00000262288.3	+	2	249	c.194T>A	c.(193-195)tTc>tAc	p.F65Y	SCPEP1_ENST00000571898.1_3'UTR|RP5-1107A17.4_ENST00000572877.1_RNA	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	65					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TGCAAGAACTTCTCAGAACTG	0.527																																						dbGAP											0													116.0	93.0	101.0					17																	55058560		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.194T>A	17.37:g.55058560T>A	ENSP00000262288:p.Phe65Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96A94|Q9H3F0	Missense_Mutation	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.F65Y	ENST00000262288.3	37	c.194	CCDS11593.1	17	.	.	.	.	.	.	.	.	.	.	T	7.847	0.723210	0.15439	.	.	ENSG00000121064	ENST00000262288	D	0.85629	-2.01	5.84	5.84	0.93424	.	0.050089	0.85682	D	0.000000	T	0.70979	0.3286	N	0.11724	0.165	0.37057	D	0.897899	B	0.14438	0.01	B	0.19666	0.026	T	0.67150	-0.5743	10	0.02654	T	1	-11.6811	14.7877	0.69816	0.0:0.0:0.0:1.0	.	65	Q9HB40	RISC_HUMAN	Y	65	ENSP00000262288:F65Y	ENSP00000262288:F65Y	F	+	2	0	SCPEP1	52413559	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.975000	0.40569	2.231000	0.72958	0.533000	0.62120	TTC	SCPEP1	-	pfam_Peptidase_S10	ENSG00000121064		0.527	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCPEP1	HGNC	protein_coding	OTTHUMT00000440622.1	203	0.00	0	T	NM_021626		55058560	55058560	+1	no_errors	ENST00000262288	ensembl	human	known	69_37n	missense	45	60.87	70	SNP	1.000	A
SETBP1	26040	genome.wustl.edu	37	18	42643576	42643576	+	Silent	SNP	C	C	G			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr18:42643576C>G	ENST00000282030.5	+	6	5000	c.4704C>G	c.(4702-4704)ccC>ccG	p.P1568P		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1568						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGCAGTCGCCCCCGCAGCAGC	0.682									Schinzel-Giedion syndrome																													dbGAP											0													8.0	11.0	10.0					18																	42643576		2127	4108	6235	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4704C>G	18.37:g.42643576C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	smart_AT_hook_DNA-bd_motif	p.P1568	ENST00000282030.5	37	c.4704	CCDS11923.2	18																																																																																			SETBP1	-	NULL	ENSG00000152217		0.682	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	20	0.00	0	C	NM_001130110		42643576	42643576	+1	no_errors	ENST00000282030	ensembl	human	known	69_37n	silent	6	50.00	6	SNP	0.950	G
SFMBT2	57713	genome.wustl.edu	37	10	7244480	7244480	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr10:7244480T>G	ENST00000361972.4	-	13	1539	c.1449A>C	c.(1447-1449)caA>caC	p.Q483H	SFMBT2_ENST00000397167.1_Missense_Mutation_p.Q483H	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	483					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TTCTCTTCTTTTGTGCTGTAG	0.383																																						dbGAP											0													148.0	129.0	136.0					10																	7244480		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1449A>C	10.37:g.7244480T>G	ENSP00000355109:p.Gln483His	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD09|Q9HCF5	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.Q483H	ENST00000361972.4	37	c.1449	CCDS31138.1	10	.	.	.	.	.	.	.	.	.	.	T	11.44	1.640698	0.29157	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.32023	1.47;1.47	5.53	4.4	0.53042	.	0.582137	0.19689	N	0.108323	T	0.29620	0.0739	L	0.49455	1.56	0.80722	D	1	P	0.37612	0.602	B	0.42163	0.378	T	0.02484	-1.1152	10	0.10902	T	0.67	.	10.6577	0.45684	0.0:0.0746:0.0:0.9254	.	483	Q5VUG0	SMBT2_HUMAN	H	483	ENSP00000355109:Q483H;ENSP00000380353:Q483H	ENSP00000355109:Q483H	Q	-	3	2	SFMBT2	7284486	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	0.862000	0.27899	0.935000	0.37341	-0.256000	0.11100	CAA	SFMBT2	-	pfam_Mbt	ENSG00000198879		0.383	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	HGNC	protein_coding	OTTHUMT00000046673.1	333	0.60	2	T	NM_001029880		7244480	7244480	-1	no_errors	ENST00000361972	ensembl	human	known	69_37n	missense	327	21.01	87	SNP	1.000	G
SLC35D1	23169	genome.wustl.edu	37	1	67507959	67507959	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr1:67507959G>C	ENST00000235345.5	-	8	774	c.689C>G	c.(688-690)cCc>cGc	p.P230R	SLC35D1_ENST00000506472.2_Missense_Mutation_p.P151R	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	230					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						GGCCAGGGTGGGCAGAATCAT	0.398																																						dbGAP											0													272.0	263.0	266.0					1																	67507959		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.689C>G	1.37:g.67507959G>C	ENSP00000235345:p.Pro230Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K185|B7Z3X2|Q52LU5|Q92548	Missense_Mutation	SNP	pfam_DUF250	p.P230R	ENST00000235345.5	37	c.689	CCDS636.1	1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860803	0.71834	.	.	ENSG00000116704	ENST00000235345;ENST00000506472	T;T	0.62941	-0.01;-0.01	5.66	5.66	0.87406	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	M	0.83774	2.66	0.80722	D	1	P;B	0.45715	0.865;0.206	P;B	0.46510	0.519;0.224	T	0.69672	-0.5082	10	0.46703	T	0.11	-12.1809	18.9159	0.92506	0.0:0.0:1.0:0.0	.	151;230	B7Z3X2;Q9NTN3	.;S35D1_HUMAN	R	230;151	ENSP00000235345:P230R;ENSP00000445189:P151R	ENSP00000235345:P230R	P	-	2	0	SLC35D1	67280547	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.695000	0.91298	2.840000	0.97914	0.655000	0.94253	CCC	SLC35D1	-	pfam_DUF250	ENSG00000116704		0.398	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35D1	HGNC	protein_coding	OTTHUMT00000025948.1	478	0.21	1	G	NM_015139		67507959	67507959	-1	no_errors	ENST00000235345	ensembl	human	known	69_37n	missense	283	31.23	129	SNP	1.000	C
SPEG	10290	genome.wustl.edu	37	2	220354392	220354392	+	Silent	SNP	A	A	C			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr2:220354392A>C	ENST00000312358.7	+	36	8784	c.8652A>C	c.(8650-8652)ccA>ccC	p.P2884P	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2884	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCGATCCCAGCCTCCACTC	0.627																																						dbGAP											0													135.0	146.0	142.0					2																	220354392		1984	4147	6131	-	-	-	SO:0001819	synonymous_variant	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8652A>C	2.37:g.220354392A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P2884	ENST00000312358.7	37	c.8652	CCDS42824.1	2																																																																																			SPEG	-	NULL	ENSG00000072195		0.627	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	79	0.00	0	A	NM_005876		220354392	220354392	+1	no_errors	ENST00000312358	ensembl	human	novel	69_37n	silent	51	19.05	12	SNP	0.971	C
SULT1E1	6783	genome.wustl.edu	37	4	70715248	70715248	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr4:70715248C>T	ENST00000226444.3	-	5	515	c.403G>A	c.(403-405)Gct>Act	p.A135T		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	135					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	AAGGAAACAGCCACATCCTTT	0.358																																						dbGAP											0													51.0	54.0	53.0					4																	70715248		2202	4299	6501	-	-	-	SO:0001583	missense	0			BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"""Sulfotransferases, cytosolic"""	11377	protein-coding gene	gene with protein product		600043	"""sulfotransferase, estrogen-preferring"""	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.403G>A	4.37:g.70715248C>T	ENSP00000226444:p.Ala135Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6X5	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.A135T	ENST00000226444.3	37	c.403	CCDS3531.1	4	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336743	0.60963	.	.	ENSG00000109193	ENST00000226444	D	0.84730	-1.89	4.02	3.19	0.36642	Sulfotransferase domain (1);	0.872915	0.09836	N	0.749572	D	0.91253	0.7243	M	0.82630	2.6	0.37320	D	0.909505	D;D	0.63046	0.992;0.992	D;D	0.63703	0.917;0.917	D	0.88464	0.3057	10	0.38643	T	0.18	.	10.0551	0.42239	0.0:0.9003:0.0:0.0996	.	135;135	Q53X91;P49888	.;ST1E1_HUMAN	T	135	ENSP00000226444:A135T	ENSP00000226444:A135T	A	-	1	0	SULT1E1	70749837	0.001000	0.12720	0.979000	0.43373	0.947000	0.59692	1.574000	0.36482	1.292000	0.44672	0.650000	0.86243	GCT	SULT1E1	-	pfam_Sulfotransferase_dom	ENSG00000109193		0.358	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1E1	HGNC	protein_coding	OTTHUMT00000251559.1	133	0.00	0	C	NM_005420		70715248	70715248	-1	no_errors	ENST00000226444	ensembl	human	known	69_37n	missense	73	22.34	21	SNP	0.994	T
TMCO4	255104	genome.wustl.edu	37	1	20009551	20009551	+	Silent	SNP	G	G	A			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr1:20009551G>A	ENST00000294543.6	-	16	2128	c.1887C>T	c.(1885-1887)ccC>ccT	p.P629P	TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000375122.2_Silent_p.P589P|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	629						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GCCCCGTGCTGGGGCCCTGGG	0.642																																						dbGAP											0													51.0	63.0	59.0					1																	20009551		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1887C>T	1.37:g.20009551G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Silent	SNP	pfam_DUF726,pfam_DUF900_hydrolase	p.P629	ENST00000294543.6	37	c.1887	CCDS198.1	1																																																																																			TMCO4	-	NULL	ENSG00000162542		0.642	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO4	HGNC	protein_coding	OTTHUMT00000007658.1	43	0.00	0	G	NM_181719		20009551	20009551	-1	no_errors	ENST00000294543	ensembl	human	known	69_37n	silent	44	16.98	9	SNP	0.912	A
TP53	7157	genome.wustl.edu	37	17	7578402	7578402	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr17:7578402G>T	ENST00000269305.4	-	5	717	c.528C>A	c.(526-528)tgC>tgA	p.C176*	TP53_ENST00000420246.2_Nonsense_Mutation_p.C176*|TP53_ENST00000445888.2_Nonsense_Mutation_p.C176*|TP53_ENST00000455263.2_Nonsense_Mutation_p.C176*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Nonsense_Mutation_p.C176*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C176*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176*(12)|p.C176W(11)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178fs*69(3)|p.R175_E180delRCPHHE(3)|p.C83*(2)|p.V173fs*59(2)|p.C44*(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176F(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.P177fs*4(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CATGGTGGGGGCAGCGCCTCA	0.647		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	75	Deletion - Frameshift(21)|Substitution - Nonsense(16)|Deletion - In frame(13)|Substitution - Missense(12)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(2)	breast(15)|large_intestine(12)|upper_aerodigestive_tract(8)|lung(8)|oesophagus(8)|haematopoietic_and_lymphoid_tissue(5)|ovary(4)|bone(4)|stomach(2)|central_nervous_system(2)|liver(2)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|skin(1)|pancreas(1)											48.0	48.0	48.0					17																	7578402		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.528C>A	17.37:g.7578402G>T	ENSP00000269305:p.Cys176*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C176*	ENST00000269305.4	37	c.528	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184208	0.78677	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.59	-1.32	0.09201	.	0.092184	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.1821	6.7443	0.23453	0.3734:0.1173:0.5093:0.0	.	.	.	.	X	176;176;176;176;176;176;165;83;44;83;44	.	ENSP00000269305:C176X	C	-	3	2	TP53	7519127	1.000000	0.71417	0.991000	0.47740	0.860000	0.49131	0.743000	0.26231	-0.094000	0.12374	-0.126000	0.14955	TGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	104	0.00	0	G	NM_000546		7578402	7578402	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	41	51.19	43	SNP	0.998	T
USP33	23032	genome.wustl.edu	37	1	78194177	78194177	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr1:78194177T>A	ENST00000370793.1	-	11	1377	c.1031A>T	c.(1030-1032)aAt>aTt	p.N344I	USP33_ENST00000370794.3_Missense_Mutation_p.N313I|USP33_ENST00000357428.1_Missense_Mutation_p.N344I|USP33_ENST00000370792.3_Missense_Mutation_p.N344I	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	344	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TGTTGTTTCATTATTATCTTC	0.323																																					Melanoma(152;72 1870 11110 26780 42647)	dbGAP											0													104.0	95.0	98.0					1																	78194177		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1031A>T	1.37:g.78194177T>A	ENSP00000359829:p.Asn344Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.N344I	ENST00000370793.1	37	c.1031	CCDS678.1	1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.205321	0.39003	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	T;T;T;T	0.10099	2.92;2.91;2.91;2.91	5.14	2.57	0.30868	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.370526	0.28730	N	0.014328	T	0.04272	0.0118	L	0.38838	1.175	0.41676	D	0.989267	B;B;B	0.21071	0.041;0.02;0.051	B;B;B	0.29440	0.091;0.056;0.102	T	0.20840	-1.0263	10	0.35671	T	0.21	.	12.1628	0.54113	0.0:0.0:0.5766:0.4234	.	344;313;344	Q8TEY7-3;Q8TEY7-2;Q8TEY7	.;.;UBP33_HUMAN	I	313;344;344;344	ENSP00000359830:N313I;ENSP00000359829:N344I;ENSP00000350009:N344I;ENSP00000359828:N344I	ENSP00000350009:N344I	N	-	2	0	USP33	77966765	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	2.003000	0.40844	0.878000	0.35920	0.383000	0.25322	AAT	USP33	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000077254		0.323	USP33-002	KNOWN	basic|CCDS	protein_coding	USP33	HGNC	protein_coding	OTTHUMT00000026923.2	317	0.00	0	T	NM_015017		78194177	78194177	-1	no_errors	ENST00000357428	ensembl	human	known	69_37n	missense	272	15.53	50	SNP	0.999	A
USH2A	7399	genome.wustl.edu	37	1	215953312	215953312	+	Silent	SNP	C	C	T			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr1:215953312C>T	ENST00000307340.3	-	55	11198	c.10812G>A	c.(10810-10812)gtG>gtA	p.V3604V	USH2A_ENST00000366943.2_Silent_p.V3604V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3604	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GATGCAGAGCCACTGCACTTA	0.507										HNSCC(13;0.011)																												dbGAP											0													151.0	120.0	131.0					1																	215953312		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10812G>A	1.37:g.215953312C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.V3604	ENST00000307340.3	37	c.10812	CCDS31025.1	1																																																																																			USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.507	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	307	0.00	0	C	NM_007123		215953312	215953312	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	silent	208	36.00	117	SNP	0.000	T
ZEB1	6935	genome.wustl.edu	37	10	31810768	31810768	+	Silent	SNP	G	G	A			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr10:31810768G>A	ENST00000320985.10	+	7	2615	c.2505G>A	c.(2503-2505)acG>acA	p.T835T	ZEB1_ENST00000542815.3_Silent_p.T768T|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Silent_p.T815T|ZEB1_ENST00000446923.2_Silent_p.T819T|ZEB1_ENST00000361642.5_Silent_p.T836T			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	835					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATAAGCAAACGATTCTGATTC	0.498																																					Ovarian(40;423 959 14296 36701 49589)	dbGAP											0													102.0	92.0	96.0					10																	31810768		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2505G>A	10.37:g.31810768G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.T836	ENST00000320985.10	37	c.2508	CCDS7169.1	10																																																																																			ZEB1	-	NULL	ENSG00000148516		0.498	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	158	0.00	0	G	NM_030751		31810768	31810768	+1	no_errors	ENST00000361642	ensembl	human	known	69_37n	silent	165	12.70	24	SNP	0.878	A
ZNF217	7764	genome.wustl.edu	37	20	52192498	52192498	+	Silent	SNP	A	A	G			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr20:52192498A>G	ENST00000371471.2	-	4	3230	c.2805T>C	c.(2803-2805)aaT>aaC	p.N935N	ZNF217_ENST00000302342.3_Silent_p.N935N|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	935					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CTCTTCTGTAATTGGCCCCGG	0.547																																						dbGAP											0													117.0	96.0	103.0					20																	52192498		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2805T>C	20.37:g.52192498A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Y6|Q14DB8	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N935	ENST00000371471.2	37	c.2805	CCDS13443.1	20																																																																																			ZNF217	-	NULL	ENSG00000171940		0.547	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF217	HGNC	protein_coding	OTTHUMT00000079757.2	119	0.00	0	A	NM_006526		52192498	52192498	-1	no_errors	ENST00000302342	ensembl	human	known	69_37n	silent	105	12.50	15	SNP	0.000	G
ZNF365	22891	genome.wustl.edu	37	10	64425930	64425930	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A150-01A-11D-A12B-09	TCGA-E2-A150-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	446064de-ff64-4113-9080-360e5bf6d5e4	17e424ec-2364-4fa2-ae06-9fa4a409fe3e	g.chr10:64425930T>C	ENST00000395251.1	+	6	858	c.524T>C	c.(523-525)cTt>cCt	p.L175P	ZNF365_ENST00000410046.3_Missense_Mutation_p.L421P|ZNF365_ENST00000395249.1_Missense_Mutation_p.L27P	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	175										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATCAGCCTTCTTACACTAGGA	0.408																																						dbGAP											0													126.0	119.0	121.0					10																	64425930		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.524T>C	10.37:g.64425930T>C	ENSP00000378672:p.Leu175Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.L421P	ENST00000395251.1	37	c.1262	CCDS7265.1	10	.	.	.	.	.	.	.	.	.	.	T	8.068	0.769588	0.15983	.	.	ENSG00000138311	ENST00000410046;ENST00000395251;ENST00000395249	T	0.58060	0.36	3.93	0.213	0.15244	.	.	.	.	.	T	0.28599	0.0708	N	0.08118	0	0.09310	N	1	B;B	0.21225	0.053;0.002	B;B	0.23419	0.046;0.003	T	0.24154	-1.0168	9	0.87932	D	0	-11.8685	3.6831	0.08317	0.0:0.1974:0.1928:0.6098	.	175;421	Q70YC4;Q70YC5-3	TALAN_HUMAN;.	P	421;175;27	ENSP00000378672:L175P	ENSP00000378670:L27P	L	+	2	0	ZNF365	64095936	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.889000	0.04144	0.021000	0.15133	0.533000	0.62120	CTT	ZNF365	-	NULL	ENSG00000138311		0.408	ZNF365-006	KNOWN	basic|CCDS	protein_coding	ZNF365	HGNC	protein_coding	OTTHUMT00000277036.1	263	0.00	0	T	NM_014951		64425930	64425930	+1	no_errors	ENST00000410046	ensembl	human	known	69_37n	missense	227	13.36	35	SNP	0.000	C
