#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_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	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ABCA10	10349	genome.wustl.edu	37	17	67160217	67160217	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:67160217T>C	ENST00000269081.4	-	28	4270	c.3361A>G	c.(3361-3363)Ata>Gta	p.I1121V	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1121					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTCCTTACTATTAAGGTTGTT	0.308																																																	0													54.0	58.0	57.0					17																	67160217		2202	4294	6496	SO:0001583	missense	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3361A>G	17.37:g.67160217T>C	ENSP00000269081:p.Ile1121Val		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I1121V	ENST00000269081.4	37	c.3361	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	T	11.62	1.693319	0.30052	.	.	ENSG00000154263	ENST00000269081	D	0.87809	-2.3	2.78	2.78	0.32641	.	1.417490	0.05954	U	0.639291	D	0.84669	0.5523	M	0.62723	1.935	0.80722	D	1	B;B	0.23128	0.01;0.08	B;B	0.26864	0.015;0.074	T	0.71140	-0.4679	10	0.21540	T	0.41	.	7.0676	0.25161	0.0:0.0:0.0:1.0	.	113;1121	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	V	1121	ENSP00000269081:I1121V	ENSP00000269081:I1121V	I	-	1	0	ABCA10	64671812	0.901000	0.30685	0.948000	0.38648	0.329000	0.28539	0.711000	0.25764	1.136000	0.42199	0.460000	0.39030	ATA	ABCA10	-	NULL	ENSG00000154263		0.308	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	-	0.00	65	0	T	NM_080282		67160217	-1	tier1	-	no_errors	ENST00000269081	ensembl	human	known	74_37	missense	24.49	37	12	SNP	0.994	C
ADAM7	8756	genome.wustl.edu	37	8	24298629	24298629	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:24298629C>A	ENST00000175238.6	+	1	91	c.8C>A	c.(7-9)cCc>cAc	p.P3H	ADAM7_ENST00000441335.2_Missense_Mutation_p.P3H|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.P3H|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AGAATGCTTCCCGGGTGTATA	0.433																																																	0													219.0	202.0	208.0					8																	24298629		2203	4300	6503	SO:0001583	missense	0			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.8C>A	8.37:g.24298629C>A	ENSP00000175238:p.Pro3His		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.P3H	ENST00000175238.6	37	c.8	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020957	0.35606	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.28895	2.21;1.59;1.6	4.06	1.26	0.21427	.	1.102700	0.07086	N	0.837946	T	0.28300	0.0699	L	0.59436	1.845	0.09310	N	1	D;D	0.58620	0.983;0.983	B;B	0.43783	0.431;0.431	T	0.20907	-1.0261	10	0.15499	T	0.54	.	5.6855	0.17801	0.0:0.6531:0.0:0.3469	.	3;3	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	H	3	ENSP00000393073:P3H;ENSP00000175238:P3H;ENSP00000370166:P3H	ENSP00000175238:P3H	P	+	2	0	ADAM7	24354574	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.576000	0.05854	0.489000	0.27749	0.563000	0.77884	CCC	ADAM7	-	NULL	ENSG00000069206		0.433	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	-	0.00	97	0	C	NM_003817		24298629	+1	tier1	-	no_errors	ENST00000175238	ensembl	human	known	74_37	missense	31.15	42	19	SNP	0.000	A
ADAM7	8756	genome.wustl.edu	37	8	24365023	24365023	+	Missense_Mutation	SNP	G	G	A	rs367681847		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:24365023G>A	ENST00000175238.6	+	21	2322	c.2239G>A	c.(2239-2241)Gca>Aca	p.A747T	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.A769T|ADAM7_ENST00000520720.1_Intron|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	747						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAGAGGAATCGCAGATCCCAA	0.388																																																	0								G	THR/ALA	0,4406		0,0,2203	115.0	123.0	120.0		2239	-8.0	0.0	8		120	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAM7	NM_003817.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	747/755	24365023	1,13005	2203	4300	6503	SO:0001583	missense	0			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.2239G>A	8.37:g.24365023G>A	ENSP00000175238:p.Ala747Thr		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.A747T	ENST00000175238.6	37	c.2239	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854136	0.32791	0.0	1.16E-4	ENSG00000069206	ENST00000175238;ENST00000380789	T;T	0.30182	1.56;1.54	4.22	-7.96	0.01144	.	1.627280	0.03441	N	0.209249	T	0.25195	0.0612	L	0.47716	1.5	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.13124	-1.0521	10	0.33940	T	0.23	.	11.0758	0.48030	0.7459:0.1111:0.143:0.0	.	747	Q9H2U9	ADAM7_HUMAN	T	747;769	ENSP00000175238:A747T;ENSP00000370166:A769T	ENSP00000175238:A747T	A	+	1	0	ADAM7	24420913	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.788000	0.04614	-1.975000	0.00997	-1.019000	0.02448	GCA	ADAM7	-	NULL	ENSG00000069206		0.388	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	-	0.00	113	0	G	NM_003817		24365023	+1	tier1	-	no_errors	ENST00000175238	ensembl	human	known	74_37	missense	29.21	63	26	SNP	0.000	A
ADCY7	113	genome.wustl.edu	37	16	50335099	50335099	+	Missense_Mutation	SNP	C	C	T	rs367758610		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr16:50335099C>T	ENST00000394697.2	+	10	1682	c.1342C>T	c.(1342-1344)Cgc>Tgc	p.R448C	ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000566433.2_Missense_Mutation_p.R448C|ADCY7_ENST00000538642.1_Missense_Mutation_p.R448C|ADCY7_ENST00000254235.3_Missense_Mutation_p.R448C			P51828	ADCY7_HUMAN	adenylate cyclase 7	448					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GATGAACATCCGCACCTACCT	0.682																																																	0								C	CYS/ARG	1,4389	2.1+/-5.4	0,1,2194	57.0	48.0	51.0		1342	4.3	1.0	16		51	3,8587	3.0+/-9.4	0,3,4292	no	missense	ADCY7	NM_001114.3	180	0,4,6486	TT,TC,CC		0.0349,0.0228,0.0308	probably-damaging	448/1081	50335099	4,12976	2195	4295	6490	SO:0001583	missense	0			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1342C>T	16.37:g.50335099C>T	ENSP00000378187:p.Arg448Cys		A0AVA6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R448C	ENST00000394697.2	37	c.1342	CCDS10741.1	16	.	.	.	.	.	.	.	.	.	.	C	16.90	3.248977	0.59103	2.28E-4	3.49E-4	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;D;D	0.81739	-1.0;-1.53;-1.53	5.26	4.31	0.51392	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.405962	0.18066	U	0.152780	D	0.85026	0.5603	M	0.67397	2.05	0.20196	N	0.999924	D;D	0.76494	0.997;0.999	P;P	0.61658	0.892;0.827	T	0.75961	-0.3133	10	0.72032	D	0.01	.	7.1715	0.25721	0.2794:0.6354:0.0:0.0852	.	448;448	P51828;F5H4D1	ADCY7_HUMAN;.	C	448	ENSP00000445046:R448C;ENSP00000378187:R448C;ENSP00000254235:R448C	ENSP00000254235:R448C	R	+	1	0	ADCY7	48892600	0.002000	0.14202	0.998000	0.56505	0.837000	0.47467	1.310000	0.33551	1.213000	0.43380	-0.339000	0.08088	CGC	ADCY7	-	pfam_A/G_cyclase,superfamily_A/G_cyclase	ENSG00000121281		0.682	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	-	0.00	216	0	C			50335099	+1	tier1	-	no_errors	ENST00000254235	ensembl	human	known	74_37	missense	28.89	160	65	SNP	0.209	T
ADI1	55256	genome.wustl.edu	37	2	3502816	3502816	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:3502816G>A	ENST00000327435.6	-	4	706	c.458C>T	c.(457-459)cCg>cTg	p.P153L	ADI1_ENST00000382093.5_Missense_Mutation_p.P147L|RP11-1293J14.1_ENST00000607415.1_lincRNA	NM_018269.3	NP_060739.2			acireductone dioxygenase 1											breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		TGTCCACACCGGTTCTCCCAC	0.537																																																	0													48.0	47.0	48.0					2																	3502816		2203	4300	6503	SO:0001583	missense	0				CCDS1653.1	2p25.2	2013-05-29			ENSG00000182551	ENSG00000182551	1.13.11.54		30576	protein-coding gene	gene with protein product	"""membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1"""	613400				14718544, 15938715	Standard	NM_018269		Approved	SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD	uc002qxp.4	Q9BV57	OTTHUMG00000112441	ENST00000327435.6:c.458C>T	2.37:g.3502816G>A	ENSP00000333666:p.Pro153Leu			Missense_Mutation	SNP	pfam_Acireductn_dOase_family,pfam_Cupin_2,pfam_AraC-bd,superfamily_RmlC_Cupin	p.P153L	ENST00000327435.6	37	c.458	CCDS1653.1	2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113603	0.77210	.	.	ENSG00000182551	ENST00000327435;ENST00000382093	.	.	.	4.59	3.71	0.42584	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.049075	0.85682	N	0.000000	D	0.85366	0.5680	H	0.95950	3.745	0.80722	D	1	D	0.67145	0.996	D	0.68039	0.955	D	0.88752	0.3251	9	0.87932	D	0	-11.5187	11.5665	0.50809	0.0881:0.0:0.9119:0.0	.	153	Q9BV57	MTND_HUMAN	L	153;147	.	ENSP00000333666:P153L	P	-	2	0	ADI1	3481823	1.000000	0.71417	0.070000	0.20053	0.511000	0.34104	6.900000	0.75687	1.283000	0.44513	0.655000	0.94253	CCG	ADI1	-	pfam_Acireductn_dOase_family,pfam_AraC-bd,superfamily_RmlC_Cupin	ENSG00000182551		0.537	ADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADI1	HGNC	protein_coding	OTTHUMT00000231914.6	-	0.00	93	0	G	NM_018269		3502816	-1	tier1	-	no_errors	ENST00000327435	ensembl	human	known	74_37	missense	36.23	44	25	SNP	0.993	A
ADIPOQ	9370	genome.wustl.edu	37	3	186572507	186572507	+	3'UTR	SNP	A	A	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:186572507A>T	ENST00000412955.2	+	0	890				ADIPOQ_ENST00000444204.2_3'UTR|ADIPOQ_ENST00000320741.2_3'UTR|ADIPOQ-AS1_ENST00000422718.1_RNA			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing						adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		CCACTAACTCAGAGCCTCCTC	0.438																																																	0													76.0	78.0	77.0					3																	186572507		2177	4251	6428	SO:0001624	3_prime_UTR_variant	0			D45371	CCDS3284.1	3q27	2013-02-26	2005-01-24	2005-01-27	ENSG00000181092	ENSG00000181092		"""Endogenous ligands"""	13633	protein-coding gene	gene with protein product	"""adipose most abundant gene transcript 1"", ""adiponectin precursor"""	605441	"""adipocyte, C1Q and collagen domain containing"""	ACDC		7592907, 8631877	Standard	NM_001177800		Approved	ACRP30, AdipoQ, apM1, GBP28, adiponectin	uc003fra.3	Q15848	OTTHUMG00000156521	ENST00000412955.2:c.*14A>T	3.37:g.186572507A>T			Q58EX9	RNA	SNP	-	NULL	ENST00000412955.2	37	NULL	CCDS3284.1	3																																																																																			ADIPOQ-AS1	-	-	ENSG00000226482		0.438	ADIPOQ-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ADIPOQ-AS1	HGNC	protein_coding	OTTHUMT00000344490.2	-	0.00	71	0	A	NM_004797		186572507	-1	tier1	-	no_errors	ENST00000422718	ensembl	human	known	74_37	rna	27.78	26	10	SNP	0.000	T
ADRA2C	152	genome.wustl.edu	37	4	3769693	3769693	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:3769693C>T	ENST00000330055.5	+	1	1569	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	454					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CATCCTCTTCCGACGGAGGAG	0.622																																					Esophageal Squamous(12;454 628 4517 14479)												0													22.0	26.0	25.0					4																	3769693		2120	4247	6367	SO:0001587	stop_gained	0			AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.1360C>T	4.37:g.3769693C>T	ENSP00000386069:p.Arg454*		P35369|Q9HB49	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2C_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam	p.R454*	ENST00000330055.5	37	c.1360	CCDS47004.1	4	.	.	.	.	.	.	.	.	.	.	C	38	6.933695	0.97944	.	.	ENSG00000184160	ENST00000330055	.	.	.	3.93	2.98	0.34508	.	.	.	.	.	.	.	.	.	.	.	0.40371	D	0.979346	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7845	0.34811	0.4203:0.5797:0.0:0.0	.	.	.	.	X	454	.	ENSP00000386069:R454X	R	+	1	2	ADRA2C	3739491	0.990000	0.36364	1.000000	0.80357	0.998000	0.95712	0.819000	0.27308	2.003000	0.58678	0.655000	0.94253	CGA	ADRA2C	-	prints_ADRA2C_rcpt	ENSG00000184160		0.622	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2C	HGNC	protein_coding	OTTHUMT00000357607.1	-	0.00	66	0	C	NM_000683		3769693	+1	tier1	-	no_errors	ENST00000330055	ensembl	human	known	74_37	nonsense	24.05	60	19	SNP	0.997	T
AGO1	26523	genome.wustl.edu	37	1	36379442	36379442	+	Splice_Site	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:36379442G>A	ENST00000373204.4	+	13	1795		c.e13-1		AGO1_ENST00000373206.1_Splice_Site	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CCTGCCCTTAGCTGAGGTGAA	0.473																																																	0													114.0	101.0	106.0					1																	36379442		2203	4300	6503	SO:0001630	splice_region_variant	0			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1583-1G>A	1.37:g.36379442G>A			Q5TA57|Q6P4S0	Splice_Site	SNP	-	e13-1	ENST00000373204.4	37	c.1583-1	CCDS398.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008214	0.75046	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	.	.	.	5.89	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2861	0.73828	0.0673:0.0:0.9327:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF2C1	36152029	1.000000	0.71417	0.998000	0.56505	0.795000	0.44927	9.869000	0.99810	1.509000	0.48786	0.650000	0.86243	.	AGO1	-	-	ENSG00000092847		0.473	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO1	HGNC	protein_coding	OTTHUMT00000019337.3	-	0.00	61	0	G		Intron	36379442	+1	tier1	-	no_errors	ENST00000373204	ensembl	human	known	74_37	splice_site	27.69	46	18	SNP	1.000	A
AKR1E2	83592	genome.wustl.edu	37	10	4882000	4882000	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr10:4882000G>A	ENST00000298375.7	+	6	733	c.662G>A	c.(661-663)cGt>cAt	p.R221H	AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000532248.1_Intron|AKR1E2_ENST00000334019.4_Intron|AKR1E2_ENST00000345253.5_Intron	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	221						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						ACTGCTTACCGTCCTCTTGGT	0.468																																					NSCLC(43;343 1097 20371 28813 45509)												0													189.0	155.0	166.0					10																	4882000		2203	4300	6503	SO:0001583	missense	0			AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.662G>A	10.37:g.4882000G>A	ENSP00000298375:p.Arg221His		Q86Z16|Q86Z17|Q86Z18|Q9BU71	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.R221H	ENST00000298375.7	37	c.662	CCDS31134.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.653|8.653	0.898746|0.898746	0.17686|0.17686	.|.	.|.	ENSG00000165568|ENSG00000165568	ENST00000462718;ENST00000298375|ENST00000487985	T|.	0.24908|.	1.83|.	4.22|4.22	-0.0238|-0.0238	0.13941|0.13941	NADP-dependent oxidoreductase domain (3);|.	0.276346|.	0.39210|.	N|.	0.001439|.	T|T	0.22781|0.22781	0.0550|0.0550	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B|.	0.25312|.	0.123|.	B|.	0.24701|.	0.055|.	T|T	0.04796|0.04796	-1.0926|-1.0926	10|5	0.72032|.	D|.	0.01|.	.|.	4.1056|4.1056	0.10035|0.10035	0.1977:0.0:0.4882:0.314|0.1977:0.0:0.4882:0.314	.|.	221|.	Q96JD6|.	AKCL2_HUMAN|.	H|I	117;221|9	ENSP00000298375:R221H|.	ENSP00000298375:R221H|.	R|V	+|+	2|1	0|0	AKR1E2|AKR1E2	4872000|4872000	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.342000|0.342000	0.28953|0.28953	2.998000|2.998000	0.49465|0.49465	0.002000|0.002000	0.14630|0.14630	0.561000|0.561000	0.74099|0.74099	CGT|GTC	AKR1E2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	ENSG00000165568		0.468	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1E2	HGNC	protein_coding	OTTHUMT00000046520.4	-	0.00	57	0	G	NM_031436		4882000	+1	tier1	-	no_errors	ENST00000298375	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	A
ALDH8A1	64577	genome.wustl.edu	37	6	135254110	135254110	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:135254110A>G	ENST00000265605.2	-	5	721	c.653T>C	c.(652-654)cTg>cCg	p.L218P	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.L218P|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.L168P	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	218					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.L218P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GTGGGACACCAGGGCCTCACC	0.572																																																	1	Substitution - Missense(1)	endometrium(1)											35.0	38.0	37.0					6																	135254110		2203	4300	6503	SO:0001583	missense	0			AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.653T>C	6.37:g.135254110A>G	ENSP00000265605:p.Leu218Pro		B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.L218P	ENST00000265605.2	37	c.653	CCDS5171.1	6	.	.	.	.	.	.	.	.	.	.	A	18.57	3.652558	0.67472	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.57273	0.41;0.41;0.41	5.45	5.45	0.79879	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.77343	0.4116	H	0.95365	3.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.997	D	0.85123	0.0970	10	0.87932	D	0	.	15.509	0.75766	1.0:0.0:0.0:0.0	.	168;218;218	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	P	218;218;168	ENSP00000265605:L218P;ENSP00000356819:L218P;ENSP00000356821:L168P	ENSP00000265605:L218P	L	-	2	0	ALDH8A1	135295803	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	9.017000	0.93651	2.062000	0.61559	0.455000	0.32223	CTG	ALDH8A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000118514		0.572	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH8A1	HGNC	protein_coding	OTTHUMT00000042334.2	-	0.00	46	0	A			135254110	-1	tier1	-	no_errors	ENST00000265605	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	G
ALS2	57679	genome.wustl.edu	37	2	202626143	202626143	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:202626143G>T	ENST00000264276.6	-	4	946	c.574C>A	c.(574-576)Ccg>Acg	p.P192T	ALS2_ENST00000467448.1_Missense_Mutation_p.P192T|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	192					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ACCTTTTGCGGCTTTGTCACT	0.527																																																	0													86.0	91.0	89.0					2																	202626143		2086	4200	6286	SO:0001583	missense	0			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.574C>A	2.37:g.202626143G>T	ENSP00000264276:p.Pro192Thr		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens	p.P192T	ENST00000264276.6	37	c.574	CCDS42800.1	2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584417	0.86748	.	.	ENSG00000003393	ENST00000264276;ENST00000467448	D;D	0.99741	-6.6;-6.6	5.93	5.93	0.95920	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.99846	0.9929	H	0.95917	3.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;1.0	D	0.97066	0.9774	10	0.87932	D	0	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	192;192;192;192	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	T	192	ENSP00000264276:P192T;ENSP00000429223:P192T	ENSP00000264276:P192T	P	-	1	0	ALS2	202334388	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	9.624000	0.98398	2.826000	0.97356	0.655000	0.94253	CCG	ALS2	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000003393		0.527	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	-	0.00	67	0	G	NM_020919		202626143	-1	tier1	-	no_errors	ENST00000264276	ensembl	human	known	74_37	missense	5.80	64	4	SNP	1.000	T
AMT	275	genome.wustl.edu	37	3	49457771	49457771	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:49457771G>A	ENST00000273588.3	-	4	646	c.344C>T	c.(343-345)aCa>aTa	p.T115I	AMT_ENST00000458307.2_Intron|AMT_ENST00000395338.2_Missense_Mutation_p.T115I|AMT_ENST00000546031.1_Missense_Mutation_p.T18I|NICN1-AS1_ENST00000424915.1_RNA|AMT_ENST00000538581.1_Missense_Mutation_p.T59I|AMT_ENST00000476226.1_5'UTR	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	115					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	CAGCGACAGTGTCCCCTAGGA	0.542																																																	0													92.0	88.0	89.0					3																	49457771		2203	4300	6503	SO:0001583	missense	0			D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"""glycine cleavage system protein T"""	238310	"""aminomethyltransferase (glycine cleavage system protein T)"""			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.344C>T	3.37:g.49457771G>A	ENSP00000273588:p.Thr115Ile		A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Missense_Mutation	SNP	pfam_GCV_T_N,pfam_GCV_T_C,pirsf_GcvT,tigrfam_GcvT	p.T115I	ENST00000273588.3	37	c.344	CCDS2797.1	3	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199612	0.58126	.	.	ENSG00000145020	ENST00000395338;ENST00000273588;ENST00000538581;ENST00000546031;ENST00000430521	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04	5.49	4.61	0.57282	Glycine cleavage T-protein, N-terminal (1);	0.047256	0.85682	D	0.000000	T	0.76421	0.3985	M	0.71206	2.165	0.80722	D	1	B;B;B	0.29188	0.059;0.236;0.108	B;B;B	0.33339	0.079;0.162;0.162	T	0.76484	-0.2942	10	0.51188	T	0.08	-15.9297	11.3054	0.49332	0.0882:0.0:0.9118:0.0	.	59;115;115	B4DE61;E9PBG1;P48728	.;.;GCST_HUMAN	I	115;115;59;18;59	ENSP00000378747:T115I;ENSP00000273588:T115I;ENSP00000443200:T59I;ENSP00000440672:T18I;ENSP00000388068:T59I	ENSP00000273588:T115I	T	-	2	0	AMT	49432775	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	6.352000	0.73027	2.570000	0.86706	0.561000	0.74099	ACA	AMT	-	pfam_GCV_T_N,pirsf_GcvT,tigrfam_GcvT	ENSG00000145020		0.542	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AMT	HGNC	protein_coding	OTTHUMT00000346216.2	-	0.00	63	0	G	NM_000481		49457771	-1	tier1	-	no_errors	ENST00000273588	ensembl	human	known	74_37	missense	40.00	45	30	SNP	1.000	A
AMY1C	278	genome.wustl.edu	37	1	104297202	104297202	+	Silent	SNP	T	T	C			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:104297202T>C	ENST00000370079.3	+	6	1024	c.960T>C	c.(958-960)caT>caC	p.H320H		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	320					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		AACGAGGACATGGCGCTGGAG	0.418																																																	0													141.0	140.0	141.0					1																	104297202		2176	4217	6393	SO:0001819	synonymous_variant	0				CCDS30784.1	1p21	2012-10-02	2007-05-03		ENSG00000187733	ENSG00000187733	3.2.1.1		476	protein-coding gene	gene with protein product		104702	"""amylase, alpha 1C; salivary"""	AMY1			Standard	XM_005270761		Approved			P04745	OTTHUMG00000011045	ENST00000370079.3:c.960T>C	1.37:g.104297202T>C			A6NJS5|A8K8H6|Q13763|Q5T083	Silent	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.H320	ENST00000370079.3	37	c.960	CCDS30784.1	1																																																																																			AMY1C	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000187733		0.418	AMY1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY1C	HGNC	protein_coding	OTTHUMT00000030375.1	-	0.00	317	0	T	NM_001008219		104297202	+1	tier1	-	no_errors	ENST00000370079	ensembl	human	known	74_37	silent	16.91	226	46	SNP	1.000	C
ANO4	121601	genome.wustl.edu	37	12	101188629	101188629	+	5'Flank	SNP	A	A	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr12:101188629A>G	ENST00000392977.3	+	0	0				ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000551148.1_3'UTR|ANO4_ENST00000538618.1_Intron|ANO4_ENST00000299222.9_5'Flank			Q32M45	ANO4_HUMAN	anoctamin 4						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ACAACTGCATACGGCCCGAGG	0.552										HNSCC(74;0.22)																																							0																																										SO:0001631	upstream_gene_variant	0			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45			12.37:g.101188629A>G	Exception_encountered		Q8NAJ0|Q8NB39|Q8NB53	RNA	SNP	-	NULL	ENST00000392977.3	37	NULL		12																																																																																			ANO4	-	-	ENSG00000151572		0.552	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	-	0.00	13	0	A	NM_178826		101188629	+1	tier1	-	no_errors	ENST00000551148	ensembl	human	putative	74_37	rna	38.46	8	5	SNP	0.999	G
ARHGAP33	115703	genome.wustl.edu	37	19	36279303	36279303	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:36279303C>T	ENST00000007510.4	+	21	3980	c.3836C>T	c.(3835-3837)tCt>tTt	p.S1279F	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.S1118F|AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.S1115F			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1279					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TCCCTCCACTCTGAGGGCCAG	0.632																																																	0													4.0	5.0	5.0					19																	36279303		1891	3839	5730	SO:0001583	missense	0			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3836C>T	19.37:g.36279303C>T	ENSP00000007510:p.Ser1279Phe		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.S1279F	ENST00000007510.4	37	c.3836		19	.	.	.	.	.	.	.	.	.	.	c	10.98	1.503563	0.26949	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.14893	2.93;2.47;2.88	4.64	2.39	0.29439	.	0.617667	0.13474	N	0.385216	T	0.11836	0.0288	N	0.14661	0.345	0.24798	N	0.992717	B;B	0.31351	0.32;0.32	B;B	0.31101	0.124;0.086	T	0.21075	-1.0256	10	0.87932	D	0	.	13.6899	0.62539	0.0:0.7038:0.2962:0.0	.	1115;1118	O14559-10;O14559-11	.;.	F	1279;1118;1115	ENSP00000007510:S1279F;ENSP00000320038:S1118F;ENSP00000368227:S1115F	ENSP00000007510:S1279F	S	+	2	0	ARHGAP33	40971143	0.975000	0.34042	0.398000	0.26321	0.977000	0.68977	2.489000	0.45285	0.451000	0.26802	0.457000	0.33378	TCT	ARHGAP33	-	NULL	ENSG00000004777		0.632	ARHGAP33-201	KNOWN	basic	protein_coding	ARHGAP33	HGNC	protein_coding		-	0.00	53	0	C	NM_052948		36279303	+1	tier1	-	no_errors	ENST00000007510	ensembl	human	known	74_37	missense	42.86	32	24	SNP	0.628	T
ARHGEF15	22899	genome.wustl.edu	37	17	8222159	8222159	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:8222159C>T	ENST00000361926.3	+	12	2074	c.1964C>T	c.(1963-1965)tCg>tTg	p.S655L	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.S655L|ARHGEF15_ENST00000582060.1_3'UTR|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	655					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CTCTTTGCCTCGCGCCCCCGC	0.642																																																	0													128.0	146.0	140.0					17																	8222159		2203	4300	6503	SO:0001583	missense	0			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1964C>T	17.37:g.8222159C>T	ENSP00000355026:p.Ser655Leu		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.S655L	ENST00000361926.3	37	c.1964	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	c	10.75	1.439249	0.25900	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.70986	-0.53;-0.53	4.84	3.85	0.44370	Pleckstrin homology-type (1);	0.450508	0.25208	N	0.032331	T	0.48660	0.1512	N	0.19112	0.55	0.34647	D	0.721249	B;B	0.31077	0.307;0.307	B;B	0.23018	0.043;0.043	T	0.54200	-0.8329	10	0.13470	T	0.59	-9.9981	10.0592	0.42263	0.3668:0.6332:0.0:0.0	.	655;655	D3DTR7;O94989	.;ARHGF_HUMAN	L	655;445;655	ENSP00000355026:S655L;ENSP00000412505:S655L	ENSP00000355026:S655L	S	+	2	0	ARHGEF15	8162884	0.987000	0.35691	0.989000	0.46669	0.758000	0.43043	2.607000	0.46300	1.228000	0.43614	0.561000	0.74099	TCG	ARHGEF15	-	NULL	ENSG00000198844		0.642	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	-	0.00	30	0	C	NM_173728		8222159	+1	tier1	-	no_errors	ENST00000361926	ensembl	human	known	74_37	missense	28.57	15	6	SNP	0.970	T
ASIC4	55515	genome.wustl.edu	37	2	220396564	220396564	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:220396564G>T	ENST00000347842.3	+	2	1062	c.1048G>T	c.(1048-1050)Ggc>Tgc	p.G350C	ASIC4_ENST00000358078.4_Missense_Mutation_p.G350C|ASIC4_ENST00000473709.1_3'UTR	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	350					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)	p.G350S(1)									CATGGGCAGTGGCCTGGAGAT	0.632																																																	1	Substitution - Missense(1)	prostate(1)											65.0	70.0	69.0					2																	220396564		2203	4300	6503	SO:0001583	missense	0			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1048G>T	2.37:g.220396564G>T	ENSP00000326627:p.Gly350Cys		Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.G350C	ENST00000347842.3	37	c.1048	CCDS2442.1	2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184862	0.78677	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.73047	-0.71;-0.71	3.07	3.07	0.35406	.	0.000000	0.85682	D	0.000000	D	0.85944	0.5815	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.981;0.999;0.999	D	0.89650	0.3869	10	0.87932	D	0	-4.9815	14.9848	0.71339	0.0:0.0:1.0:0.0	.	350;350;350	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	C	350	ENSP00000326627:G350C;ENSP00000350786:G350C	ENSP00000326627:G350C	G	+	1	0	ACCN4	220104808	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.556000	0.98127	2.043000	0.60533	0.561000	0.74099	GGC	ASIC4	-	pfam_Na+channel_ASC,prints_Na+channel_ASC	ENSG00000072182		0.632	ASIC4-001	KNOWN	basic|CCDS	protein_coding	ASIC4	HGNC	protein_coding	OTTHUMT00000130263.1		0.00	67	0	G	NM_018674		220396564	+1			no_errors	ENST00000347842	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T
ATAD2	29028	genome.wustl.edu	37	8	124335278	124335279	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:124335278_124335279insT	ENST00000287394.5	-	27	4137_4138	c.4030_4031insA	c.(4030-4032)agtfs	p.S1344fs	ATAD2_ENST00000521903.1_Frame_Shift_Ins_p.S662fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1344					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTAGTTTTGACTTTTTTTAACA	0.317																																																	0																																										SO:0001589	frameshift_variant	0			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.4031dupA	8.37:g.124335285_124335285dupT	ENSP00000287394:p.Ser1344fs		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Ins	INS	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.S1344fs	ENST00000287394.5	37	c.4031_4030	CCDS6343.1	8																																																																																			ATAD2	-	NULL	ENSG00000156802		0.317	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2		0.00	80	0	-	NM_014109		124335279	-1	tier1		no_errors	ENST00000287394	ensembl	human	known	74_37	frame_shift_ins	29.27	58	24	INS	0.997:1.000	T
CMC1	152100	genome.wustl.edu	37	3	28365409	28365409	+	3'UTR	SNP	A	A	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:28365409A>G	ENST00000466830.1	+	0	4809				AZI2_ENST00000479665.1_3'UTR|AZI2_ENST00000295748.3_5'UTR	NM_182523.1	NP_872329.1	Q7Z7K0	COXM1_HUMAN	C-x(9)-C motif containing 1							mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)	5						GTGTTCAAATATAGATACTGA	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC052644	CCDS33722.1	3p24.1	2013-10-18	2013-10-18	2008-06-20	ENSG00000187118	ENSG00000187118			28783	protein-coding gene	gene with protein product		615166	"""chromosome 3 open reading frame 68"", ""COX assembly mitochondrial protein 1 homolog (S. cerevisiae)"""	C3orf68		18443040	Standard	NM_182523		Approved	MGC61571	uc003cea.3	Q7Z7K0	OTTHUMG00000155660	ENST00000466830.1:c.*4289A>G	3.37:g.28365409A>G			Q68DJ7	RNA	SNP	-	NULL	ENST00000466830.1	37	NULL	CCDS33722.1	3																																																																																			AZI2	-	-	ENSG00000163512		0.343	CMC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AZI2	HGNC	protein_coding	OTTHUMT00000341087.1	-	0.00	10	0	A	NM_182523		28365409	-1	tier1	-	no_errors	ENST00000295748	ensembl	human	known	74_37	rna	50.00	6	6	SNP	0.391	G
ATP2C1	27032	genome.wustl.edu	37	3	130716512	130716512	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:130716512G>A	ENST00000510168.1	+	25	2856	c.2306G>A	c.(2305-2307)aGc>aAc	p.S769N	ATP2C1_ENST00000507488.2_Missense_Mutation_p.S753N|ATP2C1_ENST00000422190.2_Missense_Mutation_p.S769N|ATP2C1_ENST00000533801.2_Missense_Mutation_p.S764N|ATP2C1_ENST00000504381.1_Missense_Mutation_p.S714N|ATP2C1_ENST00000428331.2_Missense_Mutation_p.S769N|ATP2C1_ENST00000359644.3_Missense_Mutation_p.S769N|ATP2C1_ENST00000513801.1_Missense_Mutation_p.S753N|ATP2C1_ENST00000504948.1_Missense_Mutation_p.S753N|ATP2C1_ENST00000505330.1_Missense_Mutation_p.S753N|ATP2C1_ENST00000508532.1_Missense_Mutation_p.S769N|ATP2C1_ENST00000393221.4_Missense_Mutation_p.S803N|ATP2C1_ENST00000328560.8_Missense_Mutation_p.S769N			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	769					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGGAAAGACAGCATTTTGACT	0.348									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)												0													154.0	158.0	157.0					3																	130716512		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2306G>A	3.37:g.130716512G>A	ENSP00000427461:p.Ser769Asn		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase	p.S803N	ENST00000510168.1	37	c.2408	CCDS46914.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.018873|4.018873	0.75275|0.75275	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000504612;ENST00000508660|ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89270	.|-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.73|5.73	5.73|5.73	0.89815|0.89815	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.037086	.|0.85682	.|D	.|0.000000	D|D	0.87997|0.87997	0.6319|0.6319	L|L	0.39566|0.39566	1.225|1.225	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B;B	.|0.28208	.|0.169;0.203;0.03;0.169;0.03;0.066;0.082	.|B;B;B;B;B;B;B	.|0.36289	.|0.141;0.221;0.036;0.082;0.065;0.048;0.081	D|D	0.84720|0.84720	0.0739|0.0739	5|10	.|0.46703	.|T	.|0.11	.|.	19.8989|19.8989	0.96978|0.96978	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|803;764;803;769;803;769;769	.|G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.|.;.;.;.;.;.;AT2C1_HUMAN	T|N	723;287|753;714;753;803;764;769;769;753;753;769;769;769;769;768	.|ENSP00000423774:S753N;ENSP00000425320:S714N;ENSP00000421326:S753N;ENSP00000376914:S803N;ENSP00000432956:S764N;ENSP00000427461:S769N;ENSP00000424783:S769N;ENSP00000423330:S753N;ENSP00000422872:S753N;ENSP00000329664:S769N;ENSP00000395809:S769N;ENSP00000352665:S769N;ENSP00000402677:S769N	.|ENSP00000329664:S769N	A|S	+|+	1|2	0|0	ATP2C1|ATP2C1	132199202|132199202	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.931000|7.931000	0.87625|0.87625	2.706000|2.706000	0.92434|0.92434	0.555000|0.555000	0.69702|0.69702	GCA|AGC	ATP2C1	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMR1	ENSG00000017260		0.348	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP2C1	HGNC	protein_coding	OTTHUMT00000356648.2	-	0.00	73	0	G	NM_001001486		130716512	+1	tier1	-	no_errors	ENST00000393221	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	A
BCL9L	283149	genome.wustl.edu	37	11	118773129	118773129	+	Silent	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:118773129C>T	ENST00000334801.3	-	6	2287	c.1323G>A	c.(1321-1323)ggG>ggA	p.G441G	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	441	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTGGTGGGCCCCCCTCACCCG	0.662																																																	0													10.0	13.0	12.0					11																	118773129		2058	4099	6157	SO:0001819	synonymous_variant	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1323G>A	11.37:g.118773129C>T			A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	pfam_BCL9_beta-catenin-bd_dom	p.G441	ENST00000334801.3	37	c.1323	CCDS8403.1	11																																																																																			BCL9L	-	NULL	ENSG00000186174		0.662	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	-	0.00	13	0	C	NM_182557		118773129	-1	tier1	-	no_errors	ENST00000334801	ensembl	human	known	74_37	silent	35.71	9	5	SNP	0.169	T
BMP1	649	genome.wustl.edu	37	8	22035217	22035217	+	Intron	SNP	C	C	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:22035217C>A	ENST00000306385.5	+	6	1400				BMP1_ENST00000397816.3_Intron|BMP1_ENST00000397814.3_Intron|BMP1_ENST00000354870.5_Missense_Mutation_p.L290I|BMP1_ENST00000306349.8_Intron	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ATTCCCCAGGCTCCCCTTGGC	0.592																																																	0													90.0	91.0	91.0					8																	22035217		876	1991	2867	SO:0001627	intron_variant	0				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.731-148C>A	8.37:g.22035217C>A			A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A	p.L290I	ENST00000306385.5	37	c.868	CCDS6026.1	8	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184186	0.57800	.	.	ENSG00000168487	ENST00000354870	T	0.80214	-1.35	4.54	4.54	0.55810	.	.	.	.	.	T	0.77519	0.4142	.	.	.	0.20403	N	0.999909	.	.	.	.	.	.	T	0.66937	-0.5797	6	0.27082	T	0.32	.	12.7898	0.57526	0.0:1.0:0.0:0.0	.	.	.	.	I	290	ENSP00000346941:L290I	ENSP00000346941:L290I	L	+	1	0	BMP1	22091162	0.000000	0.05858	0.911000	0.35937	0.602000	0.36980	0.647000	0.24812	2.076000	0.62316	0.305000	0.20034	CTC	BMP1	-	NULL	ENSG00000168487		0.592	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP1	HGNC	protein_coding	OTTHUMT00000214995.2	-	0.00	61	0	C	NM_006132		22035217	+1	tier1	-	no_errors	ENST00000354870	ensembl	human	known	74_37	missense	25.93	40	14	SNP	0.742	A
BRD3	8019	genome.wustl.edu	37	9	136913402	136913402	+	Missense_Mutation	SNP	C	C	T	rs531283531		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr9:136913402C>T	ENST00000303407.7	-	6	1074	c.889G>A	c.(889-891)Gag>Aag	p.E297K	BRD3_ENST00000357885.2_Missense_Mutation_p.E297K|BRD3_ENST00000371834.2_Missense_Mutation_p.E297K	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	297					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TGGGGCACCTCGCCGTCCTCC	0.657			T	C15orf55	lethal midline carcinoma of young people								C|||	1	0.000199681	0.0	0.0	5008	,	,		15540	0.0		0.0	False		,,,				2504	0.001							Dom	yes		9	9q34	8019	bromodomain containing 3		E	0													53.0	46.0	49.0					9																	136913402		2202	4300	6502	SO:0001583	missense	0				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.889G>A	9.37:g.136913402C>T	ENSP00000305918:p.Glu297Lys		B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E297K	ENST00000303407.7	37	c.889	CCDS6980.1	9	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502336	0.64298	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885	T;T;T	0.09350	3.27;2.99;2.99	4.86	4.86	0.63082	Bromodomain (1);	0.066550	0.64402	D	0.000016	T	0.11239	0.0274	L	0.56769	1.78	0.58432	D	0.999998	P;B	0.36660	0.564;0.118	B;B	0.28011	0.085;0.013	T	0.15636	-1.0430	10	0.13853	T	0.58	-38.0486	16.9538	0.86252	0.0:1.0:0.0:0.0	.	297;297	Q15059-2;Q15059	.;BRD3_HUMAN	K	297	ENSP00000305918:E297K;ENSP00000360900:E297K;ENSP00000350557:E297K	ENSP00000305918:E297K	E	-	1	0	BRD3	135903223	.	.	0.996000	0.52242	0.982000	0.71751	.	.	2.243000	0.73865	0.491000	0.48974	GAG	BRD3	-	superfamily_Bromodomain	ENSG00000169925		0.657	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD3	HGNC	protein_coding	OTTHUMT00000055390.4	-	0.00	29	0	C	NM_007371		136913402	-1	tier1	-	no_errors	ENST00000303407	ensembl	human	known	74_37	missense	40.91	13	9	SNP	1.000	T
C11orf74	119710	genome.wustl.edu	37	11	36669570	36669570	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:36669570G>T	ENST00000334307.5	+	5	478	c.363G>T	c.(361-363)ttG>ttT	p.L121F	C11orf74_ENST00000446510.2_Missense_Mutation_p.L121F|C11orf74_ENST00000347206.4_Missense_Mutation_p.L47F|C11orf74_ENST00000534635.1_Missense_Mutation_p.L47F	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	121										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				CAACAGATTTGCTGCTGCTTC	0.438																																																	0													166.0	156.0	159.0					11																	36669570		2202	4298	6500	SO:0001583	missense	0			AK095997, BC009561	CCDS7904.1, CCDS60762.1	11p12	2012-08-10			ENSG00000166352	ENSG00000166352			25142	protein-coding gene	gene with protein product						12477932	Standard	NM_001276722		Approved	FLJ38678, HEPIS	uc031pzr.1	Q86VG3	OTTHUMG00000166397	ENST00000334307.5:c.363G>T	11.37:g.36669570G>T	ENSP00000334848:p.Leu121Phe		D3DR18|Q96DD6	Missense_Mutation	SNP	NULL	p.L121F	ENST00000334307.5	37	c.363	CCDS7904.1	11	.	.	.	.	.	.	.	.	.	.	G	7.029	0.560188	0.13498	.	.	ENSG00000166352	ENST00000334307;ENST00000531554;ENST00000347206;ENST00000534635;ENST00000446510;ENST00000527108	.	.	.	5.69	2.77	0.32553	.	0.915663	0.09301	N	0.820944	T	0.34483	0.0899	L	0.50333	1.59	0.21527	N	0.999655	B;B	0.29988	0.264;0.186	B;B	0.27170	0.077;0.063	T	0.25117	-1.0141	8	.	.	.	8.2856	6.1268	0.20184	0.1639:0.2906:0.5454:0.0	.	121;47	Q86VG3;Q86VG3-2	CK074_HUMAN;.	F	121;121;47;47;121;47	.	.	L	+	3	2	C11orf74	36626146	0.941000	0.31946	0.991000	0.47740	0.080000	0.17528	1.048000	0.30379	0.322000	0.23283	-0.137000	0.14449	TTG	C11orf74	-	NULL	ENSG00000166352		0.438	C11orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf74	HGNC	protein_coding	OTTHUMT00000389567.1	-	0.00	95	0	G	NM_138787		36669570	+1	tier1	-	no_errors	ENST00000334307	ensembl	human	known	74_37	missense	28.16	74	29	SNP	0.934	T
C17orf85	55421	genome.wustl.edu	37	17	3743435	3743435	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:3743435G>T	ENST00000389005.4	-	3	341	c.314C>A	c.(313-315)gCc>gAc	p.A105D	C17orf85_ENST00000158149.3_5'UTR	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	105							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ATTTCTTTGGGCAAGATTTAC	0.423																																																	0													231.0	189.0	202.0					17																	3743435		692	1591	2283	SO:0001583	missense	0				CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.314C>A	17.37:g.3743435G>T	ENSP00000373657:p.Ala105Asp		B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	pfam_DUF2414	p.A105D	ENST00000389005.4	37	c.314	CCDS45578.1	17	.	.	.	.	.	.	.	.	.	.	G	9.255	1.041717	0.19748	.	.	ENSG00000074356	ENST00000389005	.	.	.	5.18	4.16	0.48862	.	0.641212	0.16491	N	0.212098	T	0.41213	0.1149	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18335	-1.0340	9	0.18276	T	0.48	-2.9244	12.3499	0.55143	0.0:0.1705:0.8295:0.0	.	105	Q53F19	CQ085_HUMAN	D	105	.	ENSP00000373657:A105D	A	-	2	0	C17orf85	3690184	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.103000	0.64578	2.571000	0.86741	0.655000	0.94253	GCC	C17orf85	-	NULL	ENSG00000074356		0.423	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf85	HGNC	protein_coding	OTTHUMT00000438385.1	-	0.00	88	0	G	NM_018553		3743435	-1	tier1	-	no_errors	ENST00000389005	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T
PROSER3	148137	genome.wustl.edu	37	19	36253035	36253035	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:36253035C>G	ENST00000544099.1	+	4	490	c.427C>G	c.(427-429)Caa>Gaa	p.Q143E	C19orf55_ENST00000536950.1_Missense_Mutation_p.Q143E|C19orf55_ENST00000396908.4_Missense_Mutation_p.Q143E|C19orf55_ENST00000421853.2_Missense_Mutation_p.Q43E|C19orf55_ENST00000537459.1_Missense_Mutation_p.Q143E			Q2NL68	PRSR3_HUMAN		143										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCCAGCAGTCAAAGTGCAGC	0.612																																																	0													41.0	45.0	44.0					19																	36253035		1982	4179	6161	SO:0001583	missense	0																														ENST00000544099.1:c.427C>G	19.37:g.36253035C>G	ENSP00000467267:p.Gln143Glu		Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	NULL	p.Q143E	ENST00000544099.1	37	c.427		19	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352654	0.24512	.	.	ENSG00000167595	ENST00000444637;ENST00000396908;ENST00000301165;ENST00000537459;ENST00000545674	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	4.68	0.983	0.19767	.	0.419522	0.17620	N	0.167744	T	0.37019	0.0988	L	0.60455	1.87	0.09310	N	1	B;B;B	0.14805	0.011;0.002;0.002	B;B;B	0.12156	0.007;0.004;0.004	T	0.37753	-0.9692	10	0.02654	T	1	-0.6765	12.19	0.54266	0.0:0.4867:0.5133:0.0	.	143;143;143	E5RFB9;Q2NL68-3;Q2NL68-4	.;.;.	E	58;143;143;58;58	ENSP00000394231:Q58E;ENSP00000380116:Q143E;ENSP00000301165:Q143E;ENSP00000440357:Q58E	ENSP00000301165:Q143E	Q	+	1	0	C19orf55	40944875	0.000000	0.05858	0.036000	0.18154	0.664000	0.39144	-0.130000	0.10498	0.642000	0.30620	-0.182000	0.12963	CAA	C19orf55	-	NULL	ENSG00000167595		0.612	C19orf55-001	KNOWN	basic	protein_coding	C19orf55	HGNC	protein_coding	OTTHUMT00000398160.2	-	0.00	105	0	C			36253035	+1	tier1	-	no_errors	ENST00000396908	ensembl	human	known	74_37	missense	49.33	38	37	SNP	0.007	G
C9orf78	51759	genome.wustl.edu	37	9	132596001	132596001	+	Intron	DEL	A	A	-			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr9:132596001delA	ENST00000372447.3	-	3	197				USP20_ENST00000315480.4_5'Flank|C9orf78_ENST00000461762.1_5'UTR|USP20_ENST00000372429.3_5'Flank|USP20_ENST00000358355.1_5'Flank	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78							cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				GAGCAAAACCAAAAAAAAAAG	0.478																																																	0													28.0	25.0	26.0					9																	132596001		2203	4299	6502	SO:0001627	intron_variant	0			BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819			24932	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 59"""					11042152, 12097419	Standard	NM_016520		Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.144-13T>-	9.37:g.132596001delA			B3KPX8|Q8WVU6|Q9NT39	RNA	DEL	-	NULL	ENST00000372447.3	37	NULL	CCDS6931.1	9																																																																																			C9orf78	-	-	ENSG00000136819		0.478	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf78	HGNC	protein_coding	OTTHUMT00000054625.1		0.00	36	0	A	NM_016520		132596001	-1	tier1		no_errors	ENST00000461762	ensembl	human	known	74_37	rna	13.64	19	3	DEL	0.115	-
CAPN5	726	genome.wustl.edu	37	11	76804733	76804733	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:76804733C>G	ENST00000278559.3	+	3	360	c.171C>G	c.(169-171)atC>atG	p.I57M	CAPN5_ENST00000529629.1_Missense_Mutation_p.I57M|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Missense_Mutation_p.I97M	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	57	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGCAGGGCATCTGCGAGGACC	0.637																																																	0													38.0	30.0	33.0					11																	76804733		2196	4289	6485	SO:0001583	missense	0				CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.171C>G	11.37:g.76804733C>G	ENSP00000278559:p.Ile57Met		O00263	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.I57M	ENST00000278559.3	37	c.171	CCDS8248.1	11	.	.	.	.	.	.	.	.	.	.	C	10.60	1.394614	0.25205	.	.	ENSG00000149260	ENST00000278559;ENST00000527066;ENST00000530987;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74	4.57	1.58	0.23477	Peptidase C2, calpain, catalytic domain (3);	0.136102	0.49916	D	0.000132	D	0.94496	0.8228	M	0.86097	2.795	0.37857	D	0.929586	P;D;D;P	0.76494	0.947;0.999;0.999;0.947	P;D;D;P	0.74348	0.805;0.977;0.983;0.805	D	0.93646	0.6969	10	0.72032	D	0.01	.	10.0311	0.42101	0.2523:0.6759:0.0:0.0718	.	95;97;97;57	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	M	57;57;26;97;57;97;97	ENSP00000278559:I57M;ENSP00000435894:I57M;ENSP00000432332:I57M;ENSP00000409996:I97M	ENSP00000278559:I57M	I	+	3	3	CAPN5	76482381	1.000000	0.71417	0.988000	0.46212	0.121000	0.20230	1.229000	0.32600	-0.066000	0.12998	-1.228000	0.01579	ATC	CAPN5	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000149260		0.637	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN5	HGNC	protein_coding	OTTHUMT00000382564.2	-	0.00	53	0	C	NM_004055		76804733	+1	tier1	-	no_errors	ENST00000278559	ensembl	human	known	74_37	missense	41.46	24	17	SNP	1.000	G
CASC5	57082	genome.wustl.edu	37	15	40911203	40911203	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr15:40911203G>T	ENST00000346991.5	+	10	837	c.447G>T	c.(445-447)caG>caT	p.Q149H	CASC5_ENST00000527044.1_Intron|CASC5_ENST00000399668.2_Missense_Mutation_p.Q123H			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	149	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGATGCAACAGAAGGAGGTAT	0.338																																																	0													172.0	165.0	168.0					15																	40911203		1876	4096	5972	SO:0001583	missense	0			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.447G>T	15.37:g.40911203G>T	ENSP00000335463:p.Gln149His		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	NULL	p.Q149H	ENST00000346991.5	37	c.447	CCDS42023.1	15	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194378	0.58017	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.25579	1.79;1.79	4.78	1.56	0.23342	.	0.194706	0.35555	N	0.003125	T	0.39572	0.1083	M	0.66939	2.045	0.24935	N	0.991899	P;P;D	0.71674	0.765;0.933;0.998	B;B;D	0.66847	0.363;0.363;0.947	T	0.15809	-1.0424	10	0.72032	D	0.01	.	4.5158	0.11934	0.2212:0.182:0.5968:0.0	.	123;149;123	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	H	149;123;123	ENSP00000335463:Q149H;ENSP00000382576:Q123H	ENSP00000260369:Q123H	Q	+	3	2	CASC5	38698495	1.000000	0.71417	0.998000	0.56505	0.805000	0.45488	1.706000	0.37878	0.208000	0.20626	0.557000	0.71058	CAG	CASC5	-	NULL	ENSG00000137812		0.338	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	HGNC	protein_coding	OTTHUMT00000390224.2	-	0.00	86	0	G	NM_144508		40911203	+1	tier1	-	no_errors	ENST00000346991	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T
CAV2	858	genome.wustl.edu	37	7	116139910	116139910	+	Silent	SNP	C	C	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:116139910C>G	ENST00000222693.4	+	1	467	c.75C>G	c.(73-75)ctC>ctG	p.L25L	CAV2_ENST00000343213.2_Silent_p.L25L|CAV2_ENST00000393480.2_Silent_p.L25L|CAV2_ENST00000462876.1_3'UTR|AC002066.1_ENST00000446355.2_RNA	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	25					caveola assembly (GO:0070836)|endoplasmic reticulum organization (GO:0007029)|mitochondrion organization (GO:0007005)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of endothelial cell proliferation (GO:0001938)|protein oligomerization (GO:0051259)|regulation of mitosis (GO:0007088)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)|vesicle docking (GO:0048278)|vesicle fusion (GO:0006906)|vesicle organization (GO:0016050)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	D1 dopamine receptor binding (GO:0031748)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			ACAGCGGCCTCGAGTACGCCG	0.682																																																	0													23.0	23.0	23.0					7																	116139910		2200	4297	6497	SO:0001819	synonymous_variant	0			AF035752	CCDS5765.1, CCDS5766.1	7q31	2006-02-09			ENSG00000105971	ENSG00000105971			1528	protein-coding gene	gene with protein product		601048				8552590, 10087206	Standard	NM_001233		Approved	CAV	uc003vid.3	P51636	OTTHUMG00000023414	ENST00000222693.4:c.75C>G	7.37:g.116139910C>G			A4D0U2|Q9UGM7	Silent	SNP	pfam_Caveolin	p.L25	ENST00000222693.4	37	c.75	CCDS5766.1	7																																																																																			CAV2	-	pfam_Caveolin	ENSG00000105971		0.682	CAV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAV2	HGNC	protein_coding	OTTHUMT00000059735.4	-	0.00	122	0	C	NM_001233		116139910	+1	tier1	-	no_errors	ENST00000222693	ensembl	human	known	74_37	silent	34.07	89	46	SNP	0.003	G
CCDC106	29903	genome.wustl.edu	37	19	56162854	56162854	+	Missense_Mutation	SNP	G	G	T	rs148442107	byFrequency	TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:56162854G>T	ENST00000586790.1	+	4	1423	c.519G>T	c.(517-519)agG>agT	p.R173S	CCDC106_ENST00000308964.3_Missense_Mutation_p.R173S|CCDC106_ENST00000591241.1_Missense_Mutation_p.R138S|CCDC106_ENST00000588740.1_Missense_Mutation_p.R173S|U2AF2_ENST00000450554.2_5'Flank|CCDC106_ENST00000591578.1_Missense_Mutation_p.R173S			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	173						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCCGGGAGAGGCAGCGAGGTG	0.672																																																	0													23.0	19.0	20.0					19																	56162854		2180	4287	6467	SO:0001583	missense	0			AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.519G>T	19.37:g.56162854G>T	ENSP00000465757:p.Arg173Ser		B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	NULL	p.R173S	ENST00000586790.1	37	c.519	CCDS33118.1	19	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340143	0.60963	.	.	ENSG00000173581	ENST00000308964	.	.	.	4.3	0.66	0.17868	.	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	L	0.40543	1.245	0.51767	D	0.999936	D	0.76494	0.999	D	0.80764	0.994	T	0.54214	-0.8327	9	0.59425	D	0.04	3.4814	6.5376	0.22363	0.176:0.1483:0.6757:0.0	.	173	Q9BWC9	CC106_HUMAN	S	173	.	ENSP00000309681:R173S	R	+	3	2	CCDC106	60854666	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	0.340000	0.19892	0.395000	0.25257	-0.150000	0.13652	AGG	CCDC106	-	NULL	ENSG00000173581		0.672	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCDC106	HGNC	protein_coding	OTTHUMT00000453593.1	-	0.00	30	0	G	NM_013301		56162854	+1	tier1	-	no_errors	ENST00000308964	ensembl	human	known	74_37	missense	29.63	19	8	SNP	1.000	T
CCDC136	64753	genome.wustl.edu	37	7	128454861	128454861	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:128454861C>G	ENST00000297788.4	+	15	3300	c.2933C>G	c.(2932-2934)gCc>gGc	p.A978G	CCDC136_ENST00000471729.1_3'UTR|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	978						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GTCAAAGAAGCCCGGGGGAAG	0.537																																																	0													38.0	40.0	40.0					7																	128454861		1871	4119	5990	SO:0001583	missense	0				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2933C>G	7.37:g.128454861C>G	ENSP00000297788:p.Ala978Gly		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	NULL	p.A978G	ENST00000297788.4	37	c.2933	CCDS47704.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.97|14.97	2.695089|2.695089	0.48202|0.48202	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000297788;ENST00000397697|ENST00000494552	T|.	0.35048|.	1.33|.	5.64|5.64	-1.79|-1.79	0.07932|0.07932	.|.	1.208430|.	0.05781|.	N|.	0.608570|.	T|T	0.19248|0.19248	0.0462|0.0462	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B|.	0.17268|.	0.021;0.001|.	B;B|.	0.15484|.	0.013;0.002|.	T|T	0.26326|0.26326	-1.0106|-1.0106	10|5	0.33141|.	T|.	0.24|.	0.295|0.295	2.0184|2.0184	0.03503|0.03503	0.2469:0.2382:0.3626:0.1522|0.2469:0.2382:0.3626:0.1522	.|.	978;978|.	Q96JN2-4;Q96JN2|.	.;CC136_HUMAN|.	G|A	978|855	ENSP00000297788:A978G|.	ENSP00000297788:A978G|.	A|P	+|+	2|1	0|0	CCDC136|CCDC136	128242097|128242097	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.672000|0.672000	0.39443|0.39443	-1.196000|-1.196000	0.03041|0.03041	-0.029000|-0.029000	0.13827|0.13827	0.650000|0.650000	0.86243|0.86243	GCC|CCC	CCDC136	-	NULL	ENSG00000128596		0.537	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC136	HGNC	protein_coding	OTTHUMT00000350641.1	-	0.00	77	0	C	NM_022742		128454861	+1	tier1	-	no_errors	ENST00000297788	ensembl	human	known	74_37	missense	21.62	58	16	SNP	0.000	G
CCIN	881	genome.wustl.edu	37	9	36170954	36170954	+	Silent	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr9:36170954G>A	ENST00000335119.2	+	1	1566	c.1455G>A	c.(1453-1455)cgG>cgA	p.R485R		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	485					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			ACAGCCACCGGCAGAGTGTGG	0.562																																																	0													142.0	125.0	131.0					9																	36170954		2203	4300	6503	SO:0001819	synonymous_variant	0			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1455G>A	9.37:g.36170954G>A			Q9BXG7	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.R485	ENST00000335119.2	37	c.1455	CCDS6599.1	9																																																																																			CCIN	-	NULL	ENSG00000185972		0.562	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCIN	HGNC	protein_coding	OTTHUMT00000052418.1		0.00	35	0	G	NM_005893		36170954	+1			no_errors	ENST00000335119	ensembl	human	known	74_37	silent	8.82	31	3	SNP	1.000	A
CD101	9398	genome.wustl.edu	37	1	117568494	117568494	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:117568494C>T	ENST00000256652.4	+	8	2850	c.2792C>T	c.(2791-2793)tCa>tTa	p.S931L	RP11-27K13.3_ENST00000421254.1_RNA|CD101_ENST00000369470.1_Missense_Mutation_p.S931L|RP11-27K13.3_ENST00000445523.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	931					cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCCGATGAGTCACAGCGGATG	0.542																																																	0													71.0	66.0	68.0					1																	117568494		2203	4300	6503	SO:0001583	missense	0			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.2792C>T	1.37:g.117568494C>T	ENSP00000256652:p.Ser931Leu		Q15856	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.S931L	ENST00000256652.4	37	c.2792	CCDS891.1	1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113998	0.56398	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.08807	3.05;3.05	5.15	5.15	0.70609	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.41938	D	0.000798	T	0.12135	0.0295	L	0.32530	0.975	0.37773	D	0.926737	D	0.76494	0.999	D	0.78314	0.991	T	0.01316	-1.1387	10	0.87932	D	0	-13.1533	13.996	0.64402	0.0:1.0:0.0:0.0	.	931	Q93033	IGSF2_HUMAN	L	931	ENSP00000256652:S931L;ENSP00000358482:S931L	ENSP00000256652:S931L	S	+	2	0	CD101	117370017	0.978000	0.34361	0.772000	0.31596	0.122000	0.20287	2.663000	0.46774	2.677000	0.91161	0.561000	0.74099	TCA	CD101	-	smart_Ig_sub	ENSG00000134256		0.542	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CD101	HGNC	protein_coding	OTTHUMT00000033274.1		0.00	30	0	C	NM_004258		117568494	+1			no_errors	ENST00000256652	ensembl	human	known	74_37	missense	25.81	23	8	SNP	0.955	T
CD59	966	genome.wustl.edu	37	11	33743972	33743972	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:33743972G>T	ENST00000395850.3	-	2	95	c.20C>A	c.(19-21)tCt>tAt	p.S7Y	CD59_ENST00000351554.3_Missense_Mutation_p.S7Y|CD59_ENST00000533403.1_Missense_Mutation_p.S7Y|CD59_ENST00000445143.2_Missense_Mutation_p.S7Y|CD59_ENST00000527577.1_Missense_Mutation_p.S7Y|CD59_ENST00000415002.2_Missense_Mutation_p.S7Y|CD59_ENST00000534312.1_Missense_Mutation_p.S7Y|CD59_ENST00000437761.2_Missense_Mutation_p.S7Y|CD59_ENST00000528700.1_Missense_Mutation_p.S7Y|CD59_ENST00000426650.2_Missense_Mutation_p.S7Y	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	7					blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|negative regulation of activation of membrane attack complex (GO:0001971)|negative regulation of apoptotic process (GO:0043066)|positive regulation of T cell proliferation (GO:0042102)|regulation of complement activation (GO:0030449)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|compact myelin (GO:0043218)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	complement binding (GO:0001848)			endometrium(1)|lung(2)	3						GAACAGGACAGACCCTCCTTG	0.527																																																	0													167.0	131.0	143.0					11																	33743972		2202	4298	6500	SO:0001583	missense	0				CCDS7886.1	11p13	2014-09-17	2006-03-28			ENSG00000085063		"""CD molecules"", ""Complement system"""	1689	protein-coding gene	gene with protein product		107271	"""CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)"", ""CD59 antigen, complement regulatory protein"""	MIC11, MIN1, MSK21, MIN2, MIN3		7691713	Standard	NM_001127223		Approved	16.3A5, EJ16, EJ30, EL32, G344, p18-20	uc001mus.4	P13987		ENST00000395850.3:c.20C>A	11.37:g.33743972G>T	ENSP00000379191:p.Ser7Tyr			Missense_Mutation	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.S7Y	ENST00000395850.3	37	c.20	CCDS7886.1	11	.	.	.	.	.	.	.	.	.	.	G	1.118	-0.656107	0.03480	.	.	ENSG00000085063	ENST00000534312;ENST00000527926;ENST00000395850;ENST00000533403;ENST00000351554;ENST00000415002;ENST00000445143;ENST00000426650;ENST00000437761;ENST00000527577;ENST00000528700	D;D;T	0.92752	-3.1;-3.1;-1.17	3.85	0.124	0.14714	.	0.813640	0.11263	N	0.582403	T	0.77864	0.4194	N	0.13043	0.29	0.09310	N	1	B;B	0.16603	0.018;0.003	B;B	0.12837	0.008;0.004	T	0.64114	-0.6483	10	0.02654	T	1	0.5382	2.7598	0.05303	0.48:0.0:0.1181:0.4019	.	7;7	E9PI80;P13987	.;CD59_HUMAN	Y	7	ENSP00000432362:S7Y;ENSP00000437122:S7Y;ENSP00000436737:S7Y	ENSP00000340210:S7Y	S	-	2	0	CD59	33700548	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.447000	0.21710	0.001000	0.14605	-0.367000	0.07326	TCT	CD59	-	NULL	ENSG00000085063		0.527	CD59-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CD59	HGNC	protein_coding	OTTHUMT00000388809.1	-	0.00	65	0	G	NM_203329		33743972	-1	tier1	-	no_errors	ENST00000351554	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.000	T
CDHR3	222256	genome.wustl.edu	37	7	105664924	105664924	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:105664924G>T	ENST00000317716.9	+	15	2254	c.2174G>T	c.(2173-2175)gGt>gTt	p.G725V	CDHR3_ENST00000343407.5_Silent_p.G227G|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.G637V|CDHR3_ENST00000542731.1_Missense_Mutation_p.G725V	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	725					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TTGCTTCTGGGTCTCCTCGTG	0.527																																																	0													183.0	179.0	180.0					7																	105664924		2059	4198	6257	SO:0001583	missense	0			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2174G>T	7.37:g.105664924G>T	ENSP00000325954:p.Gly725Val		Q8TCI7	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G725V	ENST00000317716.9	37	c.2174	CCDS47684.1	7	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610028	0.46527	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.61158	0.13;0.18;0.16	5.65	3.75	0.43078	.	0.138425	0.49916	N	0.000121	T	0.48429	0.1499	L	0.50919	1.6	0.80722	D	1	P;P	0.34724	0.465;0.465	B;B	0.29353	0.101;0.101	T	0.49532	-0.8930	10	0.36615	T	0.2	-15.0048	13.4241	0.61015	0.0:0.0:0.7152:0.2848	.	712;725	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	V	725;725;637	ENSP00000439766:G725V;ENSP00000325954:G725V;ENSP00000417771:G637V	ENSP00000325954:G725V	G	+	2	0	CDHR3	105452160	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	3.627000	0.54252	1.350000	0.45770	0.655000	0.94253	GGT	CDHR3	-	NULL	ENSG00000128536		0.527	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR3	HGNC	protein_coding	OTTHUMT00000349025.2	-	0.00	87	0	G	NM_152750		105664924	+1	tier1	-	no_errors	ENST00000317716	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.997	T
CELA2A	63036	genome.wustl.edu	37	1	15788089	15788089	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:15788089T>C	ENST00000359621.4	+	3	188	c.163T>C	c.(163-165)Tac>Cac	p.Y55H		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	55	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						TGGCAAGTGGTACCACACCTG	0.602																																																	0													118.0	103.0	108.0					1																	15788089		2203	4300	6503	SO:0001583	missense	0				CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.163T>C	1.37:g.15788089T>C	ENSP00000352639:p.Tyr55His		B2R5I4|Q14243	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.Y55H	ENST00000359621.4	37	c.163	CCDS157.1	1	.	.	.	.	.	.	.	.	.	.	T	6.424	0.446272	0.12164	.	.	ENSG00000142615	ENST00000375924;ENST00000359621	D	0.88201	-2.35	4.27	-5.35	0.02697	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.147940	0.06744	N	0.778772	T	0.76011	0.3928	N	0.20530	0.585	0.09310	N	0.999996	B	0.10296	0.003	B	0.18561	0.022	T	0.60047	-0.7339	10	0.25106	T	0.35	.	4.9765	0.14144	0.2768:0.3937:0.0:0.3295	.	55	P08217	CEL2A_HUMAN	H	55	ENSP00000352639:Y55H	ENSP00000352639:Y55H	Y	+	1	0	CELA2A	15660676	0.000000	0.05858	0.023000	0.16930	0.018000	0.09664	-2.548000	0.00930	-0.629000	0.05575	-0.760000	0.03462	TAC	CELA2A	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000142615		0.602	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA2A	HGNC	protein_coding	OTTHUMT00000006445.1	-	0.00	107	0	T	NM_033440		15788089	+1	tier1	-	no_errors	ENST00000359621	ensembl	human	known	74_37	missense	39.53	52	34	SNP	0.005	C
CEP70	80321	genome.wustl.edu	37	3	138224144	138224144	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:138224144G>A	ENST00000264982.3	-	13	1480	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	CEP70_ENST00000542237.1_Missense_Mutation_p.S385F|CEP70_ENST00000489254.1_Missense_Mutation_p.S253F|CEP70_ENST00000481834.1_Missense_Mutation_p.S405F|CEP70_ENST00000484888.1_Missense_Mutation_p.S405F	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	405					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TACCTTTAAGGATGTCAGTTG	0.343																																																	0													112.0	114.0	114.0					3																	138224144		2203	4299	6502	SO:0001583	missense	0			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.1214C>T	3.37:g.138224144G>A	ENSP00000264982:p.Ser405Phe		B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S405F	ENST00000264982.3	37	c.1214	CCDS3102.1	3	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538628	0.27475	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781;ENST00000481834	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	5.55	3.75	0.43078	.	0.270493	0.36815	N	0.002387	T	0.47488	0.1448	M	0.64997	1.995	0.35933	D	0.832672	B;B;D;D	0.76494	0.019;0.019;0.999;0.999	B;B;D;D	0.85130	0.022;0.022;0.952;0.997	T	0.56902	-0.7902	10	0.72032	D	0.01	-0.8625	6.7614	0.23542	0.0875:0.0:0.7371:0.1753	.	253;385;405;405	B7Z2D2;F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;.;CEP70_HUMAN	F	405;385;253;405;387;405	ENSP00000264982:S405F;ENSP00000444128:S385F;ENSP00000417821:S253F;ENSP00000419231:S405F;ENSP00000419833:S387F;ENSP00000417465:S405F	ENSP00000264982:S405F	S	-	2	0	CEP70	139706834	1.000000	0.71417	0.774000	0.31636	0.005000	0.04900	3.830000	0.55768	0.887000	0.36136	-0.182000	0.12963	TCC	CEP70	-	NULL	ENSG00000114107		0.343	CEP70-001	KNOWN	basic|CCDS	protein_coding	CEP70	HGNC	protein_coding	OTTHUMT00000358001.1	-	0.00	159	0	G	NM_024491		138224144	-1	tier1	-	no_errors	ENST00000264982	ensembl	human	known	74_37	missense	32.23	82	39	SNP	0.785	A
CHD7	55636	genome.wustl.edu	37	8	61750713	61750713	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:61750713G>A	ENST00000423902.2	+	19	4911	c.4432G>A	c.(4432-4434)Gaa>Aaa	p.E1478K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1478					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGAGGAGGATGAAGGGTCTAA	0.408																																																	0													65.0	59.0	61.0					8																	61750713		1897	4121	6018	SO:0001583	missense	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4432G>A	8.37:g.61750713G>A	ENSP00000392028:p.Glu1478Lys		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1478K	ENST00000423902.2	37	c.4432	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.433318	0.96150	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.84589	-1.87	5.32	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.85084	0.5616	L	0.45352	1.415	0.80722	D	1	B	0.24368	0.102	B	0.40256	0.324	D	0.84111	0.0401	10	0.72032	D	0.01	-22.0109	14.5591	0.68123	0.0708:0.0:0.9292:0.0	.	1478	Q9P2D1	CHD7_HUMAN	K	1478	ENSP00000392028:E1478K	ENSP00000307304:E1478K	E	+	1	0	CHD7	61913267	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	9.813000	0.99286	1.391000	0.46566	0.655000	0.94253	GAA	CHD7	-	superfamily_P-loop_NTPase	ENSG00000171316		0.408	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	-	0.00	113	0	G	XM_098762		61750713	+1	tier1	-	no_errors	ENST00000423902	ensembl	human	known	74_37	missense	30.19	74	32	SNP	1.000	A
CHN2	1124	genome.wustl.edu	37	7	29440273	29440273	+	Silent	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:29440273C>T	ENST00000222792.6	+	6	935	c.405C>T	c.(403-405)taC>taT	p.Y135Y	CHN2_ENST00000495789.2_Silent_p.Y148Y|CHN2_ENST00000539406.1_Silent_p.Y210Y|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000546235.1_Silent_p.Y120Y|CHN2_ENST00000539389.1_Intron	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	135					positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TAACACTGTACATAGAAACAA	0.423																																					Ovarian(1;44 48 13232 18918 31480)												0													105.0	97.0	100.0					7																	29440273		2203	4300	6503	SO:0001819	synonymous_variant	0			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.405C>T	7.37:g.29440273C>T			A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Silent	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.Y210	ENST00000222792.6	37	c.630	CCDS5420.1	7																																																																																			CHN2	-	smart_SH2	ENSG00000106069		0.423	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHN2	HGNC	protein_coding	OTTHUMT00000214228.2	-	0.00	37	0	C	NM_004067		29440273	+1	tier1	-	no_errors	ENST00000539406	ensembl	human	known	74_37	silent	21.57	40	11	SNP	1.000	T
CKAP5	9793	genome.wustl.edu	37	11	46780957	46780957	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:46780957G>A	ENST00000529230.1	-	34	4476	c.4430C>T	c.(4429-4431)gCc>gTc	p.A1477V	CKAP5_ENST00000312055.5_Missense_Mutation_p.A1477V|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000415402.1_Missense_Mutation_p.A1477V|CKAP5_ENST00000354558.3_Missense_Mutation_p.A1477V|SNORD67_ENST00000516618.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1477					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GACCATCTGGGCTGCCTCAGG	0.493																																					Ovarian(4;85 273 2202 4844 13323)												0													94.0	89.0	91.0					11																	46780957		2201	4299	6500	SO:0001583	missense	0				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4430C>T	11.37:g.46780957G>A	ENSP00000432768:p.Ala1477Val		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2	p.A1477V	ENST00000529230.1	37	c.4430	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544136	0.45280	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876	T;T;T;T	0.45276	0.91;0.91;0.9;0.9	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.346086	0.33610	N	0.004722	T	0.33469	0.0864	L	0.27053	0.805	0.40390	D	0.979537	B;B;B	0.25609	0.034;0.13;0.079	B;B;B	0.30179	0.022;0.112;0.052	T	0.09997	-1.0649	10	0.22706	T	0.39	-3.6463	16.1254	0.81392	0.0:0.1335:0.8665:0.0	.	1477;1477;1477	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	V	1477;1477;1477;1477;208	ENSP00000432768:A1477V;ENSP00000395302:A1477V;ENSP00000310227:A1477V;ENSP00000346566:A1477V	ENSP00000310227:A1477V	A	-	2	0	CKAP5	46737533	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	4.175000	0.58263	2.755000	0.94549	0.650000	0.86243	GCC	CKAP5	-	superfamily_ARM-type_fold	ENSG00000175216		0.493	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1		0.00	52	0	G	NM_014756		46780957	-1			no_errors	ENST00000415402	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	A
COL11A1	1301	genome.wustl.edu	37	1	103467522	103467522	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:103467522G>A	ENST00000370096.3	-	24	2413	c.2101C>T	c.(2101-2103)Ctt>Ttt	p.L701F	COL11A1_ENST00000353414.4_Missense_Mutation_p.L662F|COL11A1_ENST00000512756.1_Missense_Mutation_p.L585F|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000358392.2_Missense_Mutation_p.L713F	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	701	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGACCAGGAAGACCCTATTTT	0.343																																																	0													85.0	88.0	87.0					1																	103467522		2203	4299	6502	SO:0001583	missense	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2101C>T	1.37:g.103467522G>A	ENSP00000359114:p.Leu701Phe		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.L713F	ENST00000370096.3	37	c.2137	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374411	0.82573	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.93752	0.8003	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.999	D;D;D;D	0.85130	0.986;0.997;0.997;0.994	D	0.92408	0.5935	10	0.27785	T	0.31	.	19.949	0.97192	0.0:0.0:1.0:0.0	.	585;662;713;701	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	F	701;713;662;585	ENSP00000359114:L701F;ENSP00000351163:L713F;ENSP00000302551:L662F;ENSP00000426533:L585F	ENSP00000302551:L662F	L	-	1	0	COL11A1	103240110	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.831000	0.92068	2.706000	0.92434	0.655000	0.94253	CTT	COL11A1	-	NULL	ENSG00000060718		0.343	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0.00	125	0	G	NM_080630		103467522	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	28.80	89	36	SNP	1.000	A
COLEC12	81035	genome.wustl.edu	37	18	334825	334825	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr18:334825C>G	ENST00000400256.3	-	6	1940	c.1733G>C	c.(1732-1734)gGc>gCc	p.G578A		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	578	Collagen-like 3.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCCGGGGGGGCCCTTGGGGCC	0.697																																																	0													18.0	19.0	19.0					18																	334825		2199	4287	6486	SO:0001583	missense	0			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1733G>C	18.37:g.334825C>G	ENSP00000383115:p.Gly578Ala		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.G578A	ENST00000400256.3	37	c.1733	CCDS32782.1	18	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497324	0.26861	.	.	ENSG00000158270	ENST00000400256	D	0.99607	-6.27	5.39	4.52	0.55395	.	0.160292	0.53938	D	0.000041	D	0.99711	0.9889	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97388	0.9987	10	0.87932	D	0	-7.4574	14.3713	0.66840	0.0:0.9283:0.0:0.0717	.	578	Q5KU26	COL12_HUMAN	A	578	ENSP00000383115:G578A	ENSP00000383115:G578A	G	-	2	0	COLEC12	324825	1.000000	0.71417	0.735000	0.30896	0.160000	0.22226	5.523000	0.67099	1.259000	0.44117	0.561000	0.74099	GGC	COLEC12	-	pfam_Collagen	ENSG00000158270		0.697	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1	-	0.00	54	0	C			334825	-1	tier1	-	no_errors	ENST00000400256	ensembl	human	known	74_37	missense	37.74	32	20	SNP	1.000	G
CUL7	9820	genome.wustl.edu	37	6	43005594	43005594	+	Silent	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:43005594C>T	ENST00000265348.3	-	26	5014	c.4929G>A	c.(4927-4929)gtG>gtA	p.V1643V	RN7SL403P_ENST00000481783.2_RNA|CUL7_ENST00000535468.1_Silent_p.V1727V			Q14999	CUL7_HUMAN	cullin 7	1643					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CATAGGACAGCACCTGGGGCC	0.617																																																	0													73.0	62.0	66.0					6																	43005594		2203	4300	6503	SO:0001819	synonymous_variant	0			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4929G>A	6.37:g.43005594C>T			B4DYZ0|F5H0L1|Q5T654	Silent	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.V1727	ENST00000265348.3	37	c.5181	CCDS4881.1	6																																																																																			CUL7	-	NULL	ENSG00000044090		0.617	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1		0.00	78	0	C	NM_014780		43005594	-1			no_errors	ENST00000535468	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.835	T
CYLD	1540	genome.wustl.edu	37	16	50818239	50818239	+	Splice_Site	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr16:50818239G>T	ENST00000427738.3	+	11	2031		c.e11-1		RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000398568.2_Splice_Site|CYLD_ENST00000566206.1_Splice_Site|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000564326.1_Splice_Site|CYLD_ENST00000568704.2_Splice_Site|CYLD_ENST00000540145.1_Splice_Site|CYLD_ENST00000311559.9_Splice_Site|CYLD_ENST00000569418.1_Splice_Site			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)						cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TTCTTTTGCAGCTTATTTGCT	0.323			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0													93.0	87.0	89.0					16																	50818239		1807	4070	5877	SO:0001630	splice_region_variant	0	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1827-1G>T	16.37:g.50818239G>T			O94934|Q7L3N6|Q96EH0|Q9NZX9	Splice_Site	SNP	-	e10-1	ENST00000427738.3	37	c.1827-1	CCDS45482.1	16	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403179	0.83230	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8453	0.96705	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYLD	49375740	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.107000	0.94261	2.754000	0.94517	0.655000	0.94253	.	CYLD	-	-	ENSG00000083799		0.323	CYLD-010	KNOWN	basic|CCDS	protein_coding	CYLD	HGNC	protein_coding	OTTHUMT00000422998.2	-	0.00	95	0	G		Intron	50818239	+1	tier1	-	no_errors	ENST00000311559	ensembl	human	known	74_37	splice_site	23.08	90	27	SNP	1.000	T
DDX60	55601	genome.wustl.edu	37	4	169197311	169197311	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:169197311C>A	ENST00000393743.3	-	15	2291	c.2000G>T	c.(1999-2001)aGt>aTt	p.S667I		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	667					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AACAGCTATACTTAAATCTTT	0.318																																																	0													97.0	96.0	96.0					4																	169197311		2203	4300	6503	SO:0001583	missense	0			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2000G>T	4.37:g.169197311C>A	ENSP00000377344:p.Ser667Ile		Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S667I	ENST00000393743.3	37	c.2000	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620630	0.46736	.	.	ENSG00000137628	ENST00000393743	T	0.19394	2.15	5.15	-1.47	0.08772	.	0.583700	0.17391	N	0.175924	T	0.32912	0.0845	M	0.66939	2.045	0.09310	N	1	D	0.60160	0.987	P	0.57960	0.83	T	0.23297	-1.0192	10	0.30854	T	0.27	.	11.7324	0.51746	0.0:0.3727:0.0:0.6273	.	667	Q8IY21	DDX60_HUMAN	I	667	ENSP00000377344:S667I	ENSP00000377344:S667I	S	-	2	0	DDX60	169433886	0.000000	0.05858	0.129000	0.21949	0.839000	0.47603	-1.519000	0.02243	-0.331000	0.08501	0.557000	0.71058	AGT	DDX60	-	NULL	ENSG00000137628		0.318	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	-	0.00	58	0	C	NM_017631		169197311	-1	tier1	-	no_errors	ENST00000393743	ensembl	human	known	74_37	missense	31.37	35	16	SNP	0.083	A
DYRK1A	1859	genome.wustl.edu	37	21	38865336	38865336	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr21:38865336G>C	ENST00000398960.2	+	7	1044	c.969G>C	c.(967-969)caG>caC	p.Q323H	DYRK1A_ENST00000455387.2_Missense_Mutation_p.Q95H|DYRK1A_ENST00000339659.4_Missense_Mutation_p.Q314H|DYRK1A_ENST00000338785.3_Missense_Mutation_p.Q323H|DYRK1A_ENST00000398956.2_Missense_Mutation_p.Q323H|DYRK1A_ENST00000451934.1_Missense_Mutation_p.Q323H|DYRK1A_ENST00000321219.8_Missense_Mutation_p.Q323H	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTATATTCAGAGTCGCTTTT	0.368																																					Melanoma(114;464 1602 31203 43785 45765)												0													115.0	111.0	112.0					21																	38865336		2203	4300	6503	SO:0001583	missense	0			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.969G>C	21.37:g.38865336G>C	ENSP00000381932:p.Gln323His		O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	pfam_Prot_kinase_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_dom	p.Q323H	ENST00000398960.2	37	c.969	CCDS42925.1	21	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497952	0.85069	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.57	5.57	0.84162	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	H	0.95437	3.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.998;1.0	T	0.70163	-0.4947	10	0.87932	D	0	.	14.1252	0.65215	0.072:0.0:0.928:0.0	.	323;323;323;314;323	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	H	323;314;323;323;323;323;95	ENSP00000342690:Q323H;ENSP00000340373:Q314H;ENSP00000319032:Q323H;ENSP00000416089:Q323H;ENSP00000381932:Q323H;ENSP00000381929:Q323H;ENSP00000407854:Q95H	ENSP00000319032:Q323H	Q	+	3	2	DYRK1A	37787206	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.104000	0.57790	2.775000	0.95449	0.650000	0.86243	CAG	DYRK1A	-	pfam_Prot_kinase_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_dom	ENSG00000157540		0.368	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK1A	HGNC	protein_coding	OTTHUMT00000194804.1	-	0.00	75	0	G	NM_001396		38865336	+1	tier1	-	no_errors	ENST00000398960	ensembl	human	known	74_37	missense	34.94	54	29	SNP	1.000	C
DSCAM	1826	genome.wustl.edu	37	21	41424027	41424027	+	Silent	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr21:41424027G>T	ENST00000400454.1	-	30	5520	c.5043C>A	c.(5041-5043)cgC>cgA	p.R1681R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1681					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAACCGTGGAGCGATCATCTA	0.522																																					Melanoma(134;970 1778 1785 21664 32388)												0													81.0	81.0	81.0					21																	41424027		2037	4197	6234	SO:0001819	synonymous_variant	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5043C>A	21.37:g.41424027G>T			O60468	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1681	ENST00000400454.1	37	c.5043	CCDS42929.1	21																																																																																			DSCAM	-	NULL	ENSG00000171587		0.522	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	-	0.00	82	0	G	NM_001389		41424027	-1	tier1	-	no_errors	ENST00000400454	ensembl	human	known	74_37	silent	29.87	54	23	SNP	1.000	T
ECSIT	51295	genome.wustl.edu	37	19	11618777	11618777	+	Intron	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:11618777C>T	ENST00000270517.7	-	5	932				CTC-398G3.6_ENST00000585656.1_5'Flank|ZNF653_ENST00000293771.5_5'Flank|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000591104.1_Intron|ECSIT_ENST00000591352.1_Intron|ECSIT_ENST00000592312.1_Silent_p.K159K|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000252440.7_Intron|ZNF653_ENST00000593191.1_5'Flank	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator						BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						AGGTTAGAGACTTGGCTGCCC	0.622																																																	0													64.0	74.0	70.0					19																	11618777		2203	4300	6503	SO:0001627	intron_variant	0			BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.796+28G>A	19.37:g.11618777C>T			E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Silent	SNP	pfam_ECSIT	p.K159	ENST00000270517.7	37	c.477	CCDS12262.1	19																																																																																			ECSIT	-	NULL	ENSG00000130159		0.622	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECSIT	HGNC	protein_coding	OTTHUMT00000442603.2	-	0.00	52	0	C	NM_016581		11618777	-1	tier1	-	no_errors	ENST00000592312	ensembl	human	putative	74_37	silent	44.44	30	24	SNP	0.002	T
EFR3A	23167	genome.wustl.edu	37	8	132991105	132991105	+	Silent	SNP	A	A	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:132991105A>T	ENST00000254624.5	+	13	1563	c.1338A>T	c.(1336-1338)ggA>ggT	p.G446G	EFR3A_ENST00000519656.1_Silent_p.G410G|EFR3A_ENST00000334503.4_Silent_p.G446G	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	446						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TGACCTCTGGATATAAAGCGA	0.383																																																	0													115.0	98.0	104.0					8																	132991105		2203	4300	6503	SO:0001819	synonymous_variant	0			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1338A>T	8.37:g.132991105A>T			A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Silent	SNP	superfamily_ARM-type_fold	p.G446	ENST00000254624.5	37	c.1338	CCDS34942.2	8																																																																																			EFR3A	-	superfamily_ARM-type_fold	ENSG00000132294		0.383	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFR3A	HGNC	protein_coding	OTTHUMT00000318886.1	-	0.00	67	0	A	NM_015137		132991105	+1	tier1	-	no_errors	ENST00000254624	ensembl	human	known	74_37	silent	32.39	48	23	SNP	0.990	T
EIF2D	1939	genome.wustl.edu	37	1	206776495	206776495	+	Silent	SNP	G	G	C			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:206776495G>C	ENST00000271764.2	-	6	802	c.594C>G	c.(592-594)ctC>ctG	p.L198L	EIF2D_ENST00000367114.3_Intron	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	198					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TCTCTTCACTGAGATCTGCTG	0.552																																																	0													136.0	127.0	130.0					1																	206776495		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.594C>G	1.37:g.206776495G>C			Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Silent	SNP	pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1	p.L198	ENST00000271764.2	37	c.594	CCDS1465.1	1																																																																																			EIF2D	-	NULL	ENSG00000143486		0.552	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2D	HGNC	protein_coding	OTTHUMT00000088475.1	-	0.00	69	0	G	NM_006893		206776495	-1	tier1	-	no_errors	ENST00000271764	ensembl	human	known	74_37	silent	30.56	50	22	SNP	0.001	C
EIF4G1	1981	genome.wustl.edu	37	3	184044684	184044684	+	Missense_Mutation	SNP	G	G	T	rs114237671		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:184044684G>T	ENST00000346169.2	+	23	3612	c.3341G>T	c.(3340-3342)cGc>cTc	p.R1114L	EIF2B5_ENST00000444495.1_Intron|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R918L|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R919L|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R1115L|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R951L|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1121L|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1114L|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R1028L|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1121L|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1075L|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R1027L|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R950L|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1121L|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1074L	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1114					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAAGCTGCTCGCCCAGCTACT	0.473																																																	0													127.0	130.0	129.0					3																	184044684		2203	4300	6503	SO:0001583	missense	0			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3341G>T	3.37:g.184044684G>T	ENSP00000316879:p.Arg1114Leu		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.R1121L	ENST00000346169.2	37	c.3362	CCDS3259.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.075704|5.075704	0.94000|0.94000	.|.	.|.	ENSG00000114867|ENSG00000114867	ENST00000448284|ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.04809	.|3.77;3.78;3.68;3.77;3.58;3.77;3.69;3.77;3.77;3.77;3.78;3.59;3.55;3.56	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.055180	.|0.85682	.|D	.|0.000000	T|T	0.23688|0.23688	0.0573|0.0573	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;1.0	.|D;D;D	.|0.91635	.|0.963;0.999;0.999	T|T	0.00073|0.00073	-1.2126|-1.2126	5|10	.|0.49607	.|T	.|0.09	-6.686|-6.686	18.0774|18.0774	0.89432|0.89432	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1121;1115;1114	.|E9PFM1;D3DNT2;Q04637	.|.;.;IF4G1_HUMAN	S|L	168|1114;1074;1027;1121;950;1121;1028;1115;1114;1121;1075;951;919;918	.|ENSP00000316879:R1114L;ENSP00000391935:R1074L;ENSP00000376320:R1027L;ENSP00000371767:R1121L;ENSP00000317600:R950L;ENSP00000338020:R1121L;ENSP00000407682:R1028L;ENSP00000343450:R1115L;ENSP00000323737:R1114L;ENSP00000416255:R1121L;ENSP00000395974:R1075L;ENSP00000399858:R951L;ENSP00000411826:R919L;ENSP00000404754:R918L	.|ENSP00000323737:R1114L	A|R	+|+	1|2	0|0	EIF4G1|EIF4G1	185527378|185527378	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.871000|0.871000	0.50021|0.50021	8.494000|8.494000	0.90477|0.90477	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCC|CGC	EIF4G1	-	NULL	ENSG00000114867		0.473	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1		0.00	87	0	G	NM_182917		184044684	+1			no_errors	ENST00000352767	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T
PRKCZ	5590	genome.wustl.edu	37	1	2113342	2113342	+	Intron	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:2113342C>T	ENST00000400921.2	+	14	1709				PRKCZ_ENST00000400920.1_Intron|RP11-181G12.2_ENST00000333854.2_RNA|RP11-181G12.2_ENST00000444529.1_RNA|PRKCZ_ENST00000479263.1_Intron|RP11-181G12.2_ENST00000536678.1_RNA	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta						actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	TCCTGCTGTGCGCACACCACA	0.572																																																	0																																										SO:0001627	intron_variant	0			BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.1027-2680C>T	1.37:g.2113342C>T			A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	RNA	SNP	-	NULL	ENST00000400921.2	37	NULL	CCDS41229.1	1																																																																																			RP11-181G12.2	-	-	ENSG00000182873		0.572	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	ENSG00000182873	Clone_based_vega_gene	protein_coding	OTTHUMT00000098533.3	-	0.00	67	0	C	NM_002744		2113342	-1	tier1	-	no_errors	ENST00000333854	ensembl	human	known	74_37	rna	33.33	64	32	SNP	0.002	T
ZNF813	126017	genome.wustl.edu	37	19	54007225	54007225	+	IGR	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:54007225C>T	ENST00000396421.4	+	0	300				CTD-2224J9.8_ENST00000601966.1_RNA			Q6ZN06	ZN813_HUMAN	zinc finger protein 813						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GGGGCTCATGCTCTGGGGCAG	0.597																																																	0																																										SO:0001628	intergenic_variant	0			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309		19.37:g.54007225C>T				RNA	SNP	-	NULL	ENST00000396421.4	37	NULL		19																																																																																			CTD-2224J9.8	-	-	ENSG00000213777		0.597	ZNF813-201	KNOWN	basic	protein_coding	ENSG00000213777	Clone_based_vega_gene	protein_coding		-	0.00	8	0	C	NM_001004301		54007225	+1	tier1	-	no_errors	ENST00000597004	ensembl	human	known	74_37	rna	50.00	5	5	SNP	0.844	T
RP11-782C8.2	0	genome.wustl.edu	37	1	143189125	143189125	+	lincRNA	SNP	G	G	A	rs201126579		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:143189125G>A	ENST00000412204.2	-	0	2503				RP11-782C8.1_ENST00000438000.1_lincRNA|RP11-782C8.3_ENST00000425124.1_lincRNA																							TGATGACTTGGTTGTTTAAAC	0.333																																																	0																																												0																															1.37:g.143189125G>A				RNA	SNP	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			RP11-782C8.2	-	-	ENSG00000232274		0.333	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	-	0.00	20	0	G			143189125	-1	tier1	rs201126579	no_errors	ENST00000447389	ensembl	human	known	74_37	rna	22.73	17	5	SNP	0.014	A
LOC728660	728660	genome.wustl.edu	37	X	139100021	139100021	+	lincRNA	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chrX:139100021G>T	ENST00000417426.1	+	0	407																											CCCAGAAGCCGCTGGCAAAAG	0.448																																																	0																																												0																															X.37:g.139100021G>T				RNA	SNP	-	NULL	ENST00000417426.1	37	NULL		X																																																																																			RP11-364B14.1	-	-	ENSG00000233145		0.448	RP11-364B14.1-001	KNOWN	basic	lincRNA	ENSG00000233145	Clone_based_vega_gene	lincRNA	OTTHUMT00000058573.1	-	0.00	61	0	G			139100021	+1	tier1	-	no_errors	ENST00000417426	ensembl	human	known	74_37	rna	43.75	27	21	SNP	0.000	T
ZSCAN16-AS1	100129195	genome.wustl.edu	37	6	28104687	28104687	+	lincRNA	SNP	T	T	C			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:28104687T>C	ENST00000565046.1	+	0	61				ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA																							AGCACTTGGGTTCCGGCCTGG	0.562																																																	0																																												0																															6.37:g.28104687T>C				RNA	SNP	-	NULL	ENST00000565046.1	37	NULL		6																																																																																			RP1-265C24.8	-	-	ENSG00000261839		0.562	RP1-265C24.8-001	KNOWN	basic	lincRNA	ENSG00000261839	Clone_based_vega_gene	lincRNA	OTTHUMT00000431260.1	-	0.00	237	0	T			28104687	+1	tier1	-	no_errors	ENST00000565046	ensembl	human	known	74_37	rna	27.95	164	64	SNP	0.097	C
EPHA2	1969	genome.wustl.edu	37	1	16459852	16459852	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:16459852C>A	ENST00000358432.5	-	11	2030	c.1876G>T	c.(1876-1878)Gag>Tag	p.E626*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	626	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TTGTACACCTCCCCAAACTCT	0.632																																																	0													78.0	71.0	73.0					1																	16459852		2203	4300	6503	SO:0001587	stop_gained	0			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1876G>T	1.37:g.16459852C>A	ENSP00000351209:p.Glu626*		B5A968|Q8N3Z2	Nonsense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.E626*	ENST00000358432.5	37	c.1876	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	C	41	9.159460	0.99085	.	.	ENSG00000142627	ENST00000358432	.	.	.	5.55	5.55	0.83447	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0794	0.89438	0.0:1.0:0.0:0.0	.	.	.	.	X	626	.	ENSP00000351209:E626X	E	-	1	0	EPHA2	16332439	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.802000	0.85969	2.635000	0.89317	0.650000	0.86243	GAG	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000142627		0.632	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	-	0.00	43	0	C	NM_004431		16459852	-1	tier1	-	no_errors	ENST00000358432	ensembl	human	known	74_37	nonsense	31.43	24	11	SNP	1.000	A
EPHB6	2051	genome.wustl.edu	37	7	142564262	142564262	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:142564262C>A	ENST00000392957.2	+	10	2273	c.1486C>A	c.(1486-1488)Cag>Aag	p.Q496K	EPHB6_ENST00000411471.2_Missense_Mutation_p.Q219K|EPHB6_ENST00000442129.1_Missense_Mutation_p.Q496K	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	496	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.Q481*(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGTGGTGCACCAGGTGAGCCG	0.587																																																	1	Substitution - Nonsense(1)	lung(1)											64.0	63.0	63.0					7																	142564262		2203	4300	6503	SO:0001583	missense	0			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1486C>A	7.37:g.142564262C>A	ENSP00000376684:p.Gln496Lys		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.Q496K	ENST00000392957.2	37	c.1486	CCDS5873.2	7	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179569	0.38511	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.56941	0.43;0.43;0.43	5.04	4.16	0.48862	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.44688	D	0.000435	T	0.56848	0.2013	L	0.39467	1.215	0.48452	D	0.999657	D	0.76494	0.999	D	0.72075	0.976	T	0.55231	-0.8173	10	0.02654	T	1	.	13.1132	0.59285	0.0:0.9215:0.0:0.0785	.	496	O15197	EPHB6_HUMAN	K	496;496;219	ENSP00000376684:Q496K;ENSP00000410789:Q496K;ENSP00000409061:Q219K	ENSP00000376684:Q496K	Q	+	1	0	EPHB6	142274384	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.697000	0.68295	1.250000	0.43966	0.556000	0.70494	CAG	EPHB6	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000106123		0.587	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1		0.00	32	0	C			142564262	+1			no_errors	ENST00000392957	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	A
ERCC4	2072	genome.wustl.edu	37	16	14024574	14024574	+	Missense_Mutation	SNP	G	G	T	rs143479220	byFrequency	TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr16:14024574G>T	ENST00000311895.7	+	5	809	c.800G>T	c.(799-801)cGc>cTc	p.R267L	ERCC4_ENST00000575156.1_Missense_Mutation_p.R267L|CTD-2135D7.2_ENST00000570663.1_RNA|ERCC4_ENST00000574781.1_3'UTR|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	267	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TAGACAATCCGCCATTATCTG	0.338			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	0								G	LEU/ARG	1,4393	2.1+/-5.4	0,1,2196	76.0	71.0	73.0		800	5.8	1.0	16	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	missense	ERCC4	NM_005236.2	102	0,2,6495	TT,TG,GG		0.0116,0.0228,0.0154	probably-damaging	267/917	14024574	2,12992	2197	4300	6497	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.800G>T	16.37:g.14024574G>T	ENSP00000310520:p.Arg267Leu		A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1	p.R267L	ENST00000311895.7	37	c.800	CCDS32390.1	16	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852889	0.91355	2.28E-4	1.16E-4	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	T	0.64438	-0.1	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.74741	0.3756	M	0.93375	3.41	0.80722	D	1	P;P	0.44044	0.825;0.792	B;B	0.40329	0.247;0.326	T	0.82350	-0.0501	10	0.72032	D	0.01	-17.4041	19.0512	0.93046	0.0:0.0:1.0:0.0	.	267;267	A5PKV6;Q92889	.;XPF_HUMAN	L	267;256;256	ENSP00000310520:R267L	ENSP00000310520:R267L	R	+	2	0	ERCC4	13932075	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.471000	0.97696	2.741000	0.93983	0.650000	0.86243	CGC	ERCC4	-	tigrfam_Rad1	ENSG00000175595		0.338	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC4	HGNC	protein_coding	OTTHUMT00000109634.2	-	0.00	76	0	G	NM_005236		14024574	+1	tier1	rs143479220	no_errors	ENST00000311895	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
ETFB	2109	genome.wustl.edu	37	19	51857574	51857574	+	Intron	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:51857574G>A	ENST00000309244.4	-	2	149				CTD-2616J11.11_ENST00000600067.1_Intron|CTD-2616J11.9_ENST00000600974.1_RNA|ETFB_ENST00000354232.4_Missense_Mutation_p.P107S	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide						cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		TGCCCAGCAGGAGGGGAAGGG	0.627																																																	0													67.0	60.0	62.0					19																	51857574		2203	4300	6503	SO:0001627	intron_variant	0			X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.58-12C>T	19.37:g.51857574G>A			A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Missense_Mutation	SNP	pfam_ETF_a/b_N,smart_ETF_a/b_N	p.P107S	ENST00000309244.4	37	c.319	CCDS12828.1	19	.	.	.	.	.	.	.	.	.	.	g	14.18	2.459537	0.43736	.	.	ENSG00000105379	ENST00000354232	D	0.83163	-1.69	5.22	1.77	0.24775	.	1.010870	0.07969	N	0.983616	T	0.68210	0.2976	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.52305	-0.8593	8	.	.	.	.	4.7499	0.13056	0.272:0.16:0.568:0.0	.	107	P38117-2	.	S	107	ENSP00000346173:P107S	.	P	-	1	0	ETFB	56549386	0.001000	0.12720	0.001000	0.08648	0.331000	0.28603	0.186000	0.16978	0.551000	0.29008	0.651000	0.88453	CCT	ETFB	-	NULL	ENSG00000105379		0.627	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFB	HGNC	protein_coding	OTTHUMT00000464273.1	-	0.00	45	0	G			51857574	-1	tier1	-	no_errors	ENST00000354232	ensembl	human	known	74_37	missense	27.08	35	13	SNP	0.000	A
EXOC1	55763	genome.wustl.edu	37	4	56762915	56762915	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:56762915G>T	ENST00000381295.2	+	16	2334	c.1986G>T	c.(1984-1986)aaG>aaT	p.K662N	EXOC1_ENST00000349598.6_Missense_Mutation_p.K647N|EXOC1_ENST00000346134.7_Missense_Mutation_p.K662N	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	662					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AAGAAGTAAAGATCTCAAAAA	0.343																																																	0													68.0	67.0	67.0					4																	56762915		2203	4300	6503	SO:0001583	missense	0			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1986G>T	4.37:g.56762915G>T	ENSP00000370695:p.Lys662Asn		Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	pfam_Exocyst_Exoc1/SEC3	p.K662N	ENST00000381295.2	37	c.1986	CCDS3502.1	4	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785466	0.70337	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.93	3.19	0.36642	.	0.041545	0.85682	D	0.000000	T	0.75525	0.3861	M	0.76838	2.35	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.77004	0.943;0.989	T	0.72510	-0.4271	9	0.41790	T	0.15	.	9.4859	0.38928	0.3192:0.0:0.6808:0.0	.	647;662	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	N	662;662;647	.	ENSP00000326514:K662N	K	+	3	2	EXOC1	56457672	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.791000	0.55469	0.363000	0.24346	0.563000	0.77884	AAG	EXOC1	-	pfam_Exocyst_Exoc1/SEC3	ENSG00000090989		0.343	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXOC1	HGNC	protein_coding	OTTHUMT00000361799.1		0.00	65	0	G	NM_018261		56762915	+1			no_errors	ENST00000346134	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
FAM175B	23172	genome.wustl.edu	37	10	126523241	126523241	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr10:126523241G>T	ENST00000298492.5	+	9	994	c.949G>T	c.(949-951)Gaa>Taa	p.E317*		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	317					cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)			NS(1)	1						AAACAATCAAGAAAGTACTTT	0.517																																																	0													109.0	90.0	96.0					10																	126523241		2203	4300	6503	SO:0001587	stop_gained	0			D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"""Abraxas brother"""	611144	"""KIAA0157"""	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.949G>T	10.37:g.126523241G>T	ENSP00000298492:p.Glu317*		B4DKR2|Q96H11	Nonsense_Mutation	SNP	prints_FAM175_BRISC_cplx_Abro1_su,prints_FAM175	p.E317*	ENST00000298492.5	37	c.949	CCDS31308.2	10	.	.	.	.	.	.	.	.	.	.	G	33	5.239195	0.95240	.	.	ENSG00000165660	ENST00000298492	.	.	.	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-1.7317	18.6193	0.91316	0.0:0.0:1.0:0.0	.	.	.	.	X	317	.	ENSP00000298492:E317X	E	+	1	0	FAM175B	126513231	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.984000	0.63838	2.836000	0.97738	0.655000	0.94253	GAA	FAM175B	-	NULL	ENSG00000165660		0.517	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM175B	HGNC	protein_coding	OTTHUMT00000050891.2		0.00	73	0	G	NM_032182		126523241	+1			no_errors	ENST00000298492	ensembl	human	known	74_37	nonsense	6.25	45	3	SNP	1.000	T
FAM92A1P2	403315	genome.wustl.edu	37	4	183960276	183960276	+	RNA	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:183960276C>T	ENST00000502308.1	+	0	1459					NR_003612.1				family with sequence similarity 92, member A1 pseudogene 2																		CAGAAGAAGACAATTTTCTCA	0.343																																																	0																																												0			BC022019		4q35.1	2012-04-19	2012-04-19	2012-04-19	ENSG00000230219	ENSG00000230219			32287	pseudogene	pseudogene			"""family with sequence similarity 92, member A3"""	FAM92A3		12477932	Standard	NR_003612		Approved	MGC71735, MGC102964	uc003ivi.4		OTTHUMG00000160675		4.37:g.183960276C>T				RNA	SNP	-	NULL	ENST00000502308.1	37	NULL		4																																																																																			FAM92A1P2	-	-	ENSG00000230219		0.343	FAM92A1P2-002	KNOWN	basic	processed_transcript	FAM92A1P2	HGNC	pseudogene	OTTHUMT00000361814.1	-	0.00	51	0	C			183960276	+1	tier1	-	no_errors	ENST00000502308	ensembl	human	known	74_37	rna	29.85	46	20	SNP	0.279	T
FAT3	120114	genome.wustl.edu	37	11	92532140	92532140	+	Silent	SNP	T	T	C			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:92532140T>C	ENST00000298047.6	+	9	5978	c.5961T>C	c.(5959-5961)taT>taC	p.Y1987Y	FAT3_ENST00000409404.2_Silent_p.Y1987Y|FAT3_ENST00000525166.1_Silent_p.Y1837Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1987	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAAGCTTCTATTCCACCTCAA	0.413										TCGA Ovarian(4;0.039)																																							0													177.0	172.0	174.0					11																	92532140		1945	4139	6084	SO:0001819	synonymous_variant	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5961T>C	11.37:g.92532140T>C			B5MDB0|Q96AU6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.Y1987	ENST00000298047.6	37	c.5961		11																																																																																			FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165323		0.413	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0.00	95	0	T	NM_001008781		92532140	+1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	silent	34.85	43	23	SNP	0.963	C
FBXO3	26273	genome.wustl.edu	37	11	33763561	33763561	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:33763561C>G	ENST00000265651.3	-	11	1327	c.1309G>C	c.(1309-1311)Gat>Cat	p.D437H	FBXO3_ENST00000526785.1_Missense_Mutation_p.D324H|FBXO3_ENST00000531080.1_Missense_Mutation_p.D124H|FBXO3_ENST00000532057.1_Missense_Mutation_p.D124H|FBXO3_ENST00000530401.1_3'UTR	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	437	Asp/Glu-rich (highly acidic).				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		GCTGAATCATCAtcctcgtct	0.453																																																	0													191.0	145.0	160.0					11																	33763561		2202	4298	6500	SO:0001583	missense	0			AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1309G>C	11.37:g.33763561C>G	ENSP00000265651:p.Asp437His		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	pfam_ApaG_domain,pfam_F-box_dom,superfamily_ApaG_domain,superfamily_F-box_dom,smart_F-box_dom,smart_SMI1/KNR4_like_dom,pfscan_ApaG_domain,pfscan_F-box_dom	p.D437H	ENST00000265651.3	37	c.1309	CCDS7887.1	11	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598394	0.28445	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000531080;ENST00000532057	T;T;T;T	0.71461	-0.57;-0.51;-0.57;-0.57	3.8	3.8	0.43715	.	0.858950	0.09693	N	0.768159	T	0.61299	0.2336	N	0.19112	0.55	0.80722	D	1	B	0.31910	0.346	B	0.34991	0.193	T	0.61618	-0.7026	10	0.87932	D	0	-4.408	14.3255	0.66518	0.0:1.0:0.0:0.0	.	437	Q9UK99	FBX3_HUMAN	H	324;437;124;124	ENSP00000435680:D324H;ENSP00000265651:D437H;ENSP00000435165:D124H;ENSP00000434001:D124H	ENSP00000265651:D437H	D	-	1	0	FBXO3	33720137	0.992000	0.36948	0.560000	0.28344	0.596000	0.36781	4.091000	0.57700	2.064000	0.61679	0.561000	0.74099	GAT	FBXO3	-	NULL	ENSG00000110429		0.453	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO3	HGNC	protein_coding	OTTHUMT00000388665.1	-	0.00	35	0	C	NM_012175		33763561	-1	tier1	-	no_errors	ENST00000265651	ensembl	human	known	74_37	missense	39.29	17	11	SNP	0.949	G
FAT3	120114	genome.wustl.edu	37	11	92532150	92532150	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:92532150A>G	ENST00000298047.6	+	9	5988	c.5971A>G	c.(5971-5973)Atc>Gtc	p.I1991V	FAT3_ENST00000409404.2_Missense_Mutation_p.I1991V|FAT3_ENST00000525166.1_Missense_Mutation_p.I1841V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1991	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTCCACCTCAATCTCAGAGAA	0.423										TCGA Ovarian(4;0.039)																																							0													177.0	172.0	173.0					11																	92532150		1937	4140	6077	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5971A>G	11.37:g.92532150A>G	ENSP00000298047:p.Ile1991Val		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.I1991V	ENST00000298047.6	37	c.5971		11	.	.	.	.	.	.	.	.	.	.	A	2.014	-0.426417	0.04701	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.47869	0.83;0.83;0.83	6.02	6.02	0.97574	.	.	.	.	.	T	0.45094	0.1325	N	0.05608	-0.01	0.80722	D	1	D	0.63880	0.993	D	0.75484	0.986	T	0.37572	-0.9700	9	0.02654	T	1	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	1991	Q8TDW7-3	.	V	1991;1991;1841	ENSP00000298047:I1991V;ENSP00000387040:I1991V;ENSP00000432586:I1841V	ENSP00000298047:I1991V	I	+	1	0	FAT3	92171798	1.000000	0.71417	0.982000	0.44146	0.977000	0.68977	7.502000	0.81614	2.311000	0.77944	0.533000	0.62120	ATC	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165323		0.423	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0.00	97	0	A	NM_001008781		92532150	+1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	28.33	43	17	SNP	0.998	G
FER1L4	80307	genome.wustl.edu	37	20	34192495	34192495	+	RNA	SNP	C	C	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr20:34192495C>A	ENST00000430275.2	-	0	441							A9Z1Z3	FR1L4_HUMAN	fer-1-like family member 4, pseudogene (functional)							integral component of membrane (GO:0016021)											GACCAGGCTCCAGTAGCGCCC	0.607																																																	0																																												0			AL121586		20q11.23	2014-09-11	2014-06-27		ENSG00000088340	ENSG00000088340		"""-"""	15801	pseudogene	pseudogene			"""fer-1-like 4 (C. elegans)"", ""fer-1-like 4 (C. elegans), pseudogene (functional)"""	C20orf124		24063685, 24961353	Standard	XR_425236		Approved	bA563A22B.1, dJ309K20.1	uc002xcx.3	A9Z1Z3	OTTHUMG00000032354		20.37:g.34192495C>A			Q9GZQ9|Q9H646|Q9H8L7	RNA	SNP	-	NULL	ENST00000430275.2	37	NULL		20																																																																																			FER1L4	-	-	ENSG00000088340		0.607	FER1L4-016	KNOWN	basic	processed_transcript	FER1L4	HGNC	pseudogene	OTTHUMT00000443297.1	-	0.00	60	0	C	NR_024377		34192495	-1	tier1	-	no_errors	ENST00000426117	ensembl	human	known	74_37	rna	29.63	38	16	SNP	0.815	A
FLNC	2318	genome.wustl.edu	37	7	128486431	128486431	+	Silent	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:128486431C>T	ENST00000325888.8	+	23	4302	c.4041C>T	c.(4039-4041)ggC>ggT	p.G1347G	FLNC_ENST00000346177.6_Silent_p.G1347G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1347					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGACCGAGGGCTGTGATCCCA	0.642																																																	0													50.0	61.0	57.0					7																	128486431		2120	4216	6336	SO:0001819	synonymous_variant	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4041C>T	7.37:g.128486431C>T			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.G1347	ENST00000325888.8	37	c.4041	CCDS43644.1	7																																																																																			FLNC	-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.642	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	-	0.00	36	0	C			128486431	+1	tier1	-	no_errors	ENST00000325888	ensembl	human	known	74_37	silent	24.14	44	14	SNP	1.000	T
FN3K	64122	genome.wustl.edu	37	17	80706816	80706816	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:80706816C>T	ENST00000300784.7	+	5	616	c.554C>T	c.(553-555)gCt>gTt	p.A185V		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	185					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			AAGGACTATGCTGACCGAGAG	0.597																																					Melanoma(10;391 597 14592 32548 32749)												0													58.0	54.0	56.0					17																	80706816		2203	4300	6503	SO:0001583	missense	0			AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.554C>T	17.37:g.80706816C>T	ENSP00000300784:p.Ala185Val			Missense_Mutation	SNP	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	p.A185V	ENST00000300784.7	37	c.554	CCDS11818.1	17	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122581	0.77436	.	.	ENSG00000167363	ENST00000300784;ENST00000536165	T	0.54071	0.59	4.08	0.0169	0.14110	Protein kinase-like domain (1);	0.115316	0.64402	D	0.000019	T	0.32675	0.0837	N	0.08118	0	0.36428	D	0.864759	P;P	0.43231	0.584;0.801	B;B	0.43623	0.425;0.425	T	0.30387	-0.9980	9	.	.	.	1.0469	14.2537	0.66038	0.0:0.2839:0.716:0.0	.	185;140	Q9H479;B3KNR9	FN3K_HUMAN;.	V	185;140	ENSP00000300784:A185V	.	A	+	2	0	FN3K	78300105	0.995000	0.38212	1.000000	0.80357	0.967000	0.64934	2.350000	0.44063	0.270000	0.21984	-0.176000	0.13171	GCT	FN3K	-	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	ENSG00000167363		0.597	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FN3K	HGNC	protein_coding	OTTHUMT00000439229.1	-	0.00	53	0	C	NM_022158		80706816	+1	tier1	-	no_errors	ENST00000300784	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T
FOXC1	2296	genome.wustl.edu	37	6	1612017	1612018	+	In_Frame_Ins	INS	-	-	CGG	rs557912856|rs398123612|rs572346201		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:1612017_1612018insCGG	ENST00000380874.2	+	1	1337_1338	c.1337_1338insCGG	c.(1336-1341)cacggc>caCGGcggc	p.456_457insG		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	456	Poly-Gly.				artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		TCCCTGAGTCAcggcggcggcg	0.782																																					Pancreas(133;719 1821 3197 26645 35015)												0																																										SO:0001652	inframe_insertion	0			AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.1359_1361dupCGG	6.37:g.1612024_1612026dupCGG	ENSP00000370256:p.Gly456_Gly456dup		Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	In_Frame_Ins	INS	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.450in_frame_insG	ENST00000380874.2	37	c.1337_1338	CCDS4473.1	6																																																																																			FOXC1	-	NULL	ENSG00000054598		0.782	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXC1	HGNC	protein_coding	OTTHUMT00000043450.1		0.00	13	0	-			1612018	+1	tier1		no_errors	ENST00000380874	ensembl	human	known	74_37	in_frame_ins	35.71	9	5	INS	1.000:1.000	CGG
FREM2	341640	genome.wustl.edu	37	13	39261662	39261662	+	Missense_Mutation	SNP	G	G	A	rs553605556		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr13:39261662G>A	ENST00000280481.7	+	1	397	c.181G>A	c.(181-183)Gcg>Acg	p.A61T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	61					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCCTGGTCTCGCGGGGGCTGC	0.692																																																	0																																										SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.181G>A	13.37:g.39261662G>A	ENSP00000280481:p.Ala61Thr		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.A61T	ENST00000280481.7	37	c.181	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924303	0.34002	.	.	ENSG00000150893	ENST00000280481	T	0.19250	2.16	4.47	-1.49	0.08718	.	0.993104	0.08175	N	0.986462	T	0.09949	0.0244	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.35525	-0.9785	10	0.30078	T	0.28	.	5.1113	0.14811	0.0762:0.3782:0.3617:0.1839	.	61	Q5SZK8	FREM2_HUMAN	T	61	ENSP00000280481:A61T	ENSP00000280481:A61T	A	+	1	0	FREM2	38159662	0.000000	0.05858	0.887000	0.34795	0.907000	0.53573	-0.425000	0.07017	-0.173000	0.10761	-0.176000	0.13171	GCG	FREM2	-	NULL	ENSG00000150893		0.692	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0.00	62	0	G	NM_207361		39261662	+1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	26.79	41	15	SNP	0.024	A
GIMAP2	26157	genome.wustl.edu	37	7	150389763	150389763	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:150389763A>C	ENST00000223293.5	+	3	483	c.389A>C	c.(388-390)aAg>aCg	p.K130T		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	130	AIG1-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGAGGGTGAAGGAGATCTTT	0.552																																																	0													60.0	47.0	52.0					7																	150389763		2203	4300	6503	SO:0001583	missense	0			AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"""GTPases, IMAP"""	21789	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 12"""	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.389A>C	7.37:g.150389763A>C	ENSP00000223293:p.Lys130Thr		Q96L25	Missense_Mutation	SNP	pfam_AIG1,superfamily_P-loop_NTPase	p.K130T	ENST00000223293.5	37	c.389	CCDS5905.1	7	.	.	.	.	.	.	.	.	.	.	A	11.78	1.739249	0.30774	.	.	ENSG00000106560	ENST00000223293	T	0.06142	3.34	3.9	-0.0189	0.13962	AIG1 (1);	0.315023	0.30219	N	0.010130	T	0.13329	0.0323	M	0.64567	1.98	0.38576	D	0.950078	D	0.67145	0.996	D	0.70935	0.971	T	0.20371	-1.0277	10	0.54805	T	0.06	.	0.9493	0.01372	0.4974:0.1977:0.1137:0.1912	.	130	Q9UG22	GIMA2_HUMAN	T	130	ENSP00000223293:K130T	ENSP00000223293:K130T	K	+	2	0	GIMAP2	150020696	0.050000	0.20438	0.221000	0.23827	0.146000	0.21551	2.243000	0.43115	-0.079000	0.12707	0.496000	0.49642	AAG	GIMAP2	-	pfam_AIG1,superfamily_P-loop_NTPase	ENSG00000106560		0.552	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP2	HGNC	protein_coding	OTTHUMT00000348948.1	-	0.00	59	0	A	NM_015660		150389763	+1	tier1	-	no_errors	ENST00000223293	ensembl	human	known	74_37	missense	28.57	45	18	SNP	0.571	C
GLI2	2736	genome.wustl.edu	37	2	121726451	121726451	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:121726451G>A	ENST00000452319.1	+	6	865	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	GLI2_ENST00000361492.4_Missense_Mutation_p.A269T|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGCTCGGCGGCCAGCGGTTC	0.667																																																	0													54.0	50.0	51.0					2																	121726451		2203	4300	6503	SO:0001583	missense	0				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.805G>A	2.37:g.121726451G>A	ENSP00000390436:p.Ala269Thr			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A269T	ENST00000452319.1	37	c.805	CCDS33283.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.267683|4.267683	0.80469|0.80469	.|.	.|.	ENSG00000074047|ENSG00000074047	ENST00000452319;ENST00000361492|ENST00000440937;ENST00000360874	T;T|.	0.70631|.	-0.5;-0.5|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.54415|0.54415	0.1857|0.1857	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	D;D|P	0.89917|0.38504	1.0;1.0|0.634	D;D|B	0.83275|0.33620	0.996;0.996|0.167	T|T	0.63260|0.63260	-0.6677|-0.6677	10|8	0.49607|0.87932	T|D	0.09|0	.|.	18.2868|18.2868	0.90117|0.90117	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	269;269|139	P10070;Q0VGA0|F5H4D9	GLI2_HUMAN;.|.	T|D	269|139;131	ENSP00000390436:A269T;ENSP00000354586:A269T|.	ENSP00000354586:A269T|ENSP00000441454:G131D	A|G	+|+	1|2	0|0	GLI2|GLI2	121442921|121442921	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.173000|0.173000	0.22820|0.22820	9.601000|9.601000	0.98297|0.98297	2.557000|2.557000	0.86248|0.86248	0.655000|0.655000	0.94253|0.94253	GCC|GGC	GLI2	-	NULL	ENSG00000074047		0.667	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3		0.00	71	0	G	NM_005270		121726451	+1			no_errors	ENST00000361492	ensembl	human	known	74_37	missense	5.63	66	4	SNP	1.000	A
GNAS	2778	genome.wustl.edu	37	20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	rs11554273		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr20:57484420C>T	ENST00000371085.3	+	8	1025	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000371100.4_Missense_Mutation_p.R844C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201C(228)|p.R844C(9)|p.R201S(5)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	242	Substitution - Missense(242)	pituitary(141)|pancreas(35)|large_intestine(14)|ovary(12)|thyroid(10)|adrenal_gland(7)|biliary_tract(6)|parathyroid(5)|liver(3)|kidney(3)|testis(2)|upper_aerodigestive_tract(2)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)											80.0	78.0	79.0					20																	57484420		2203	4300	6503	SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.601C>T	20.37:g.57484420C>T	ENSP00000360126:p.Arg201Cys		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.R202C	ENST00000371085.3	37	c.604	CCDS13472.1	20	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215896	0.79352	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-2.99;-5.95	5.53	4.53	0.55603	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.99732	4.735	0.80722	D	1	D;D;D;D	0.89917	0.999;0.983;0.979;1.0	D;P;P;D	0.97110	0.939;0.845;0.643;1.0	D	0.96814	0.9599	10	0.87932	D	0	.	13.0593	0.58997	0.2437:0.7563:0.0:0.0	rs11554273	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	C	844;830;187;201;202;186;187	ENSP00000360141:R844C;ENSP00000360143:R830C;ENSP00000360136:R187C;ENSP00000360126:R201C;ENSP00000346328:R202C;ENSP00000265620:R186C;ENSP00000304472:R187C	ENSP00000265620:R186C	R	+	1	0	GNAS	56917815	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.055000	0.57441	2.596000	0.87737	0.563000	0.77884	CGT	GNAS	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000087460		0.428	GNAS-015	KNOWN	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080431.2	-	0.00	98	0	C	NM_000516		57484420	+1	tier1	rs11554273	no_errors	ENST00000354359	ensembl	human	known	74_37	missense	26.80	71	26	SNP	1.000	T
GPR179	440435	genome.wustl.edu	37	17	36483702	36483702	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:36483702C>G	ENST00000342292.4	-	11	5770	c.5750G>C	c.(5749-5751)aGa>aCa	p.R1917T	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1917					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R1917I(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGGGTCTTGTCTCAGGTCCCC	0.507																																																	1	Substitution - Missense(1)	large_intestine(1)											78.0	77.0	77.0					17																	36483702		1929	4148	6077	SO:0001583	missense	0				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5750G>C	17.37:g.36483702C>G	ENSP00000345060:p.Arg1917Thr			Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C	p.R1917T	ENST00000342292.4	37	c.5750	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856772	0.32791	.	.	ENSG00000188888	ENST00000342292	T	0.49720	0.77	4.9	-0.548	0.11833	.	0.775586	0.11371	N	0.570869	T	0.17450	0.0419	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21724	-1.0237	10	0.07813	T	0.8	-1.0916	1.5965	0.02665	0.1295:0.2716:0.1654:0.4336	.	1917	Q6PRD1	GP179_HUMAN	T	1917	ENSP00000345060:R1917T	ENSP00000345060:R1917T	R	-	2	0	GPR179	33737228	0.000000	0.05858	0.926000	0.36857	0.612000	0.37316	-1.366000	0.02585	-0.198000	0.10333	0.561000	0.74099	AGA	GPR179	-	NULL	ENSG00000188888		0.507	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	-	0.00	80	0	C			36483702	-1	tier1	-	no_errors	ENST00000342292	ensembl	human	known	74_37	missense	25.81	46	16	SNP	0.030	G
GPS1	2873	genome.wustl.edu	37	17	80011791	80011791	+	Silent	SNP	A	A	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:80011791A>G	ENST00000306823.6	+	3	197	c.174A>G	c.(172-174)gaA>gaG	p.E58E	GPS1_ENST00000320548.4_Silent_p.E42E|GPS1_ENST00000355130.2_Silent_p.E98E|RFNG_ENST00000429557.3_5'Flank|RFNG_ENST00000310496.4_5'Flank|RFNG_ENST00000584838.1_5'Flank|GPS1_ENST00000392358.2_Silent_p.E98E|GPS1_ENST00000578552.1_Silent_p.E58E			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	58					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TGCGCATCGAACGGCTGCAGT	0.612																																																	0													64.0	52.0	56.0					17																	80011791		2200	4299	6499	SO:0001819	synonymous_variant	0				CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"""COP9 signalosome subunit 1"""	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.174A>G	17.37:g.80011791A>G			Q8NA10|Q9BWL1	Silent	SNP	pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom	p.E98	ENST00000306823.6	37	c.294	CCDS32774.1	17																																																																																			GPS1	-	NULL	ENSG00000169727		0.612	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPS1	HGNC	protein_coding	OTTHUMT00000442176.1		0.00	46	0	A	NM_212492		80011791	+1			no_errors	ENST00000355130	ensembl	human	known	74_37	silent	7.32	38	3	SNP	1.000	G
GTF2H3	2967	genome.wustl.edu	37	12	124144761	124144761	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr12:124144761G>T	ENST00000543341.2	+	13	937	c.906G>T	c.(904-906)aaG>aaT	p.K302N	GTF2H3_ENST00000228955.7_Missense_Mutation_p.K261N	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	302					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		CCAAGAAAAAGAAACTGAAAG	0.343								Nucleotide excision repair (NER)																													Melanoma(176;111 2022 3038 14733 36962)												0													64.0	69.0	67.0					12																	124144761		2203	4299	6502	SO:0001583	missense	0			Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4657	protein-coding gene	gene with protein product		601750	"""general transcription factor IIH, polypeptide 3 (34kD subunit)"""			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.906G>T	12.37:g.124144761G>T	ENSP00000445162:p.Lys302Asn		B2R819|B4DNZ6|Q7L0G0|Q96AT7	Missense_Mutation	SNP	pfam_TFIIH_Tfb4/p34,tigrfam_TFIIH_Tfb4/p34	p.K302N	ENST00000543341.2	37	c.906	CCDS9252.1	12	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004663	0.54254	.	.	ENSG00000111358	ENST00000228955;ENST00000543341;ENST00000542231;ENST00000543154	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.74222	0.3688	M	0.87827	2.91	0.58432	D	0.999999	P	0.48162	0.906	P	0.46585	0.521	T	0.79864	-0.1623	9	0.87932	D	0	.	18.2988	0.90157	0.0:0.0:1.0:0.0	.	302	Q13889	TF2H3_HUMAN	N	261;302;252;188	.	ENSP00000228955:K261N	K	+	3	2	GTF2H3	122710714	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.644000	0.67902	2.775000	0.95449	0.650000	0.86243	AAG	GTF2H3	-	NULL	ENSG00000111358		0.343	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H3	HGNC	protein_coding	OTTHUMT00000400641.2	-	0.00	52	0	G	NM_001516		124144761	+1	tier1	-	no_errors	ENST00000543341	ensembl	human	known	74_37	missense	34.00	33	17	SNP	1.000	T
HIPK2	28996	genome.wustl.edu	37	7	139416253	139416253	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:139416253G>C	ENST00000406875.3	-	2	675	c.581C>G	c.(580-582)tCc>tGc	p.S194C	HIPK2_ENST00000428878.2_Missense_Mutation_p.S194C|HIPK2_ENST00000342645.6_Missense_Mutation_p.S194C	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	194	Interaction with DAXX.|Transcriptional corepression. {ECO:0000250}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GTTGGTCATGGAGCACAGCAC	0.582																																																	0													101.0	88.0	92.0					7																	139416253		1568	3582	5150	SO:0001583	missense	0			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.581C>G	7.37:g.139416253G>C	ENSP00000385571:p.Ser194Cys		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S194C	ENST00000406875.3	37	c.581		7	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229523	0.79688	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.27256	1.68;1.68;1.68	5.41	5.41	0.78517	Protein kinase-like domain (1);	.	.	.	.	T	0.55081	0.1898	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.993;0.995	T	0.59434	-0.7455	8	0.87932	D	0	.	19.2039	0.93722	0.0:0.0:1.0:0.0	.	194;194	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	C	194	ENSP00000385571:S194C;ENSP00000413724:S194C;ENSP00000343108:S194C	ENSP00000343108:S194C	S	-	2	0	HIPK2	139062739	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.869000	0.99810	2.523000	0.85059	0.655000	0.94253	TCC	HIPK2	-	superfamily_Kinase-like_dom	ENSG00000064393		0.582	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3	-	0.00	44	0	G	NM_022740		139416253	-1	tier1	-	no_errors	ENST00000406875	ensembl	human	known	74_37	missense	40.91	26	18	SNP	1.000	C
HLA-A	3105	genome.wustl.edu	37	6	29910684	29910685	+	Frame_Shift_Ins	INS	-	-	GATA	rs199474408|rs41542016		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:29910684_29910685insGATA	ENST00000396634.1	+	4	565_566	c.224_225insGATA	c.(223-228)tggatafs	p.-76fs	HLA-A_ENST00000376809.5_Frame_Shift_Ins_p.-76fs|HLA-A_ENST00000376802.2_Frame_Shift_Ins_p.-76fs|HLA-A_ENST00000376806.5_Frame_Shift_Ins_p.-76fs			P16189	1A31_HUMAN	major histocompatibility complex, class I, A						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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGGGCGCCGTGGATAGAGCAGG	0.673									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0																																										SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.225_228dupGATA	6.37:g.29910685_29910688dupGATA	ENSP00000379873:p.Ile76fs		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Frame_Shift_Ins	INS	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.E77fs	ENST00000396634.1	37	c.224_225	CCDS34373.1	6																																																																																			HLA-A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000206503		0.673	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1		0.00	73	0	-	NM_002116		29910685	+1	tier1		no_errors	ENST00000376806	ensembl	human	known	74_37	frame_shift_ins	10.13	71	8	INS	0.072:0.061	GATA
HTT	3064	genome.wustl.edu	37	4	3208383	3208383	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:3208383G>A	ENST00000355072.5	+	43	6024	c.5879G>A	c.(5878-5880)cGt>cAt	p.R1960H		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1960					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATTCAGTCTCGTTGTGAAAAC	0.463																																																	0													58.0	58.0	58.0					4																	3208383		1942	4133	6075	SO:0001583	missense	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5879G>A	4.37:g.3208383G>A	ENSP00000347184:p.Arg1960His		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.R1960H	ENST00000355072.5	37	c.5879	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798502	0.90538	.	.	ENSG00000197386	ENST00000355072	T	0.06849	3.25	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.30823	0.0777	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.00679	-1.1613	10	0.62326	D	0.03	.	19.6451	0.95773	0.0:0.0:1.0:0.0	.	1960	P42858	HD_HUMAN	H	1960	ENSP00000347184:R1960H	ENSP00000347184:R1960H	R	+	2	0	HTT	3178181	1.000000	0.71417	0.989000	0.46669	0.527000	0.34593	9.734000	0.98822	2.720000	0.93068	0.655000	0.94253	CGT	HTT	-	NULL	ENSG00000197386		0.463	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	-	0.00	38	0	G	NM_002111		3208383	+1	tier1	-	no_errors	ENST00000355072	ensembl	human	known	74_37	missense	38.46	16	10	SNP	1.000	A
ICOSLG	23308	genome.wustl.edu	37	21	45649509	45649509	+	Intron	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr21:45649509C>T	ENST00000407780.3	-	6	1026				ICOSLG_ENST00000400379.3_Silent_p.L442L|ICOSLG_ENST00000344330.4_Intron|ICOSLG_ENST00000400377.3_Intron	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand						B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GGACACCCCACAGGGGCTGGG	0.711																																																	0																																										SO:0001627	intron_variant	0			AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.898+427G>A	21.37:g.45649509C>T			A8MUZ1|Q9HD18|Q9NRQ1	Silent	SNP	pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom	p.L442	ENST00000407780.3	37	c.1326	CCDS42952.1	21																																																																																			ICOSLG	-	NULL	ENSG00000160223		0.711	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ICOSLG	HGNC	protein_coding	OTTHUMT00000195838.1	-	0.00	29	0	C	NM_015259		45649509	-1	tier1	-	no_errors	ENST00000400379	ensembl	human	putative	74_37	silent	17.86	23	5	SNP	0.000	T
IFT140	9742	genome.wustl.edu	37	16	1568310	1568310	+	Silent	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr16:1568310G>A	ENST00000426508.2	-	30	4452	c.4089C>T	c.(4087-4089)ctC>ctT	p.L1363L	IFT140_ENST00000361339.5_Silent_p.L557L	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1363					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GTTCCTCCAGGAGCAGCTCAC	0.612																																																	0													112.0	80.0	91.0					16																	1568310		2199	4300	6499	SO:0001819	synonymous_variant	0			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.4089C>T	16.37:g.1568310G>A			A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1363	ENST00000426508.2	37	c.4089	CCDS10439.1	16																																																																																			IFT140	-	NULL	ENSG00000187535		0.612	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	-	0.00	43	0	G	NM_014714		1568310	-1	tier1	-	no_errors	ENST00000426508	ensembl	human	known	74_37	silent	31.71	28	13	SNP	0.999	A
IFT80	57560	genome.wustl.edu	37	3	159976308	159976308	+	3'UTR	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:159976308G>A	ENST00000326448.7	-	0	2771				IFT80_ENST00000483465.1_3'UTR|IFT80_ENST00000496589.1_3'UTR|RP11-432B6.3_ENST00000483754.1_3'UTR	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80						bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGATACGCATGGCATTTAGGG	0.343																																																	0													221.0	206.0	211.0					3																	159976308		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.*5C>T	3.37:g.159976308G>A			B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	RNA	SNP	-	NULL	ENST00000326448.7	37	NULL	CCDS3188.1	3																																																																																			IFT80	-	-	ENSG00000068885		0.343	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT80	HGNC	protein_coding	OTTHUMT00000352651.2	-	0.00	55	0	G	NM_020800		159976308	-1	tier1	-	no_errors	ENST00000463240	ensembl	human	known	74_37	rna	30.30	46	20	SNP	0.000	A
IL23R	149233	genome.wustl.edu	37	1	67724812	67724812	+	3'UTR	SNP	A	A	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:67724812A>G	ENST00000347310.5	+	0	2062				IL23R_ENST00000395227.1_3'UTR|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor						defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						GGAAAAGTAGAGCTGTGTGGT	0.358																																																	0													33.0	35.0	35.0					1																	67724812		2194	4297	6491	SO:0001624	3_prime_UTR_variant	0			AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.*1A>G	1.37:g.67724812A>G			C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	RNA	SNP	-	NULL	ENST00000347310.5	37	NULL	CCDS637.1	1																																																																																			IL23R	-	-	ENSG00000162594		0.358	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL23R	HGNC	protein_coding	OTTHUMT00000025199.2	-	0.00	50	0	A	NM_144701		67724812	+1	tier1	-	no_errors	ENST00000473881	ensembl	human	known	74_37	rna	53.06	23	26	SNP	0.351	G
APOBR	55911	genome.wustl.edu	37	16	28511194	28511194	+	IGR	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr16:28511194C>T	ENST00000431282.1	+	0	3414				IL27_ENST00000356897.1_Silent_p.E170E			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						cctcctcctcctcttcctcct	0.677																																																	0													9.0	10.0	9.0					16																	28511194		2158	4227	6385	SO:0001628	intergenic_variant	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83			16.37:g.28511194C>T			H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	superfamily_4_helix_cytokine-like_core	p.E170	ENST00000431282.1	37	c.510		16																																																																																			IL27	-	superfamily_4_helix_cytokine-like_core	ENSG00000197272		0.677	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	IL27	HGNC	protein_coding			0.00	41	0	C	NM_182804		28511194	-1			no_errors	ENST00000356897	ensembl	human	known	74_37	silent	8.57	32	3	SNP	0.003	T
NRIP2	83714	genome.wustl.edu	37	12	2939666	2939666	+	Intron	SNP	A	A	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr12:2939666A>G	ENST00000337508.4	-	2	536				ITFG2_ENST00000542548.1_3'UTR	NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGGCAGAGTAATGGTGGTGAC	0.507																																																	0																																										SO:0001627	intron_variant	0			AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.495+207T>C	12.37:g.2939666A>G			A2RRE3|B4DV61	RNA	SNP	-	NULL	ENST00000337508.4	37	NULL	CCDS8514.1	12																																																																																			ITFG2	-	-	ENSG00000111203		0.507	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG2	HGNC	protein_coding	OTTHUMT00000253090.4	-	0.00	12	0	A	NM_031474		2939666	+1	tier1	-	no_errors	ENST00000552005	ensembl	human	known	74_37	rna	40.00	6	4	SNP	0.000	G
ITGA11	22801	genome.wustl.edu	37	15	68623367	68623367	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr15:68623367C>A	ENST00000315757.7	-	15	1939	c.1853G>T	c.(1852-1854)gGg>gTg	p.G618V	ITGA11_ENST00000423218.2_Missense_Mutation_p.G618V	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	618					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GTCGATGAGCCCATCCTCATT	0.587																																																	0													56.0	63.0	61.0					15																	68623367		2030	4192	6222	SO:0001583	missense	0			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1853G>T	15.37:g.68623367C>A	ENSP00000327290:p.Gly618Val		J3KQM2|Q8WYI8|Q9UKQ1	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.G618V	ENST00000315757.7	37	c.1853	CCDS45291.1	15	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934633	0.92458	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491;ENST00000537153	D;D	0.84370	-1.84;-1.84	5.49	5.49	0.81192	.	0.047692	0.85682	D	0.000000	D	0.93900	0.8048	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.77557	0.943;0.99	D	0.94819	0.7985	10	0.87932	D	0	.	18.3569	0.90361	0.0:1.0:0.0:0.0	.	618;618	A8K8T0;Q9UKX5	.;ITA11_HUMAN	V	618;618;253;618	ENSP00000327290:G618V;ENSP00000403392:G618V	ENSP00000327290:G618V	G	-	2	0	ITGA11	66410421	0.998000	0.40836	0.989000	0.46669	0.958000	0.62258	4.394000	0.59671	2.573000	0.86826	0.561000	0.74099	GGG	ITGA11	-	smart_Int_alpha_beta-p,prints_Integrin_alpha	ENSG00000137809		0.587	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	HGNC	protein_coding		-	0.00	97	0	C	NM_012211		68623367	-1	tier1	-	no_errors	ENST00000315757	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	A
ITIH2	3698	genome.wustl.edu	37	10	7780587	7780587	+	Frame_Shift_Del	DEL	C	C	-	rs184798502		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr10:7780587delC	ENST00000358415.4	+	16	2127	c.1961delC	c.(1960-1962)gccfs	p.A654fs	ITIH2_ENST00000379587.4_Frame_Shift_Del_p.A643fs	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	654					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TACGCAGGGGCCCTGTATTAC	0.502																																																	0													110.0	100.0	103.0					10																	7780587		2203	4300	6503	SO:0001589	frameshift_variant	0			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1961delC	10.37:g.7780587delC	ENSP00000351190:p.Ala654fs		Q14659|Q15484|Q5T986	Frame_Shift_Del	DEL	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.L655fs	ENST00000358415.4	37	c.1961	CCDS31141.1	10																																																																																			ITIH2	-	NULL	ENSG00000151655		0.502	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	HGNC	protein_coding	OTTHUMT00000046678.2		0.00	75	0	C	NM_002216		7780587	+1	tier1		no_errors	ENST00000358415	ensembl	human	known	74_37	frame_shift_del	39.51	49	32	DEL	0.901	-
ITK	3702	genome.wustl.edu	37	5	156649947	156649947	+	Silent	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:156649947C>T	ENST00000422843.3	+	6	722	c.570C>T	c.(568-570)ctC>ctT	p.L190L	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	190	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CTCAGGAACTCGCACTGCGGC	0.502			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0													126.0	117.0	120.0					5																	156649947		2203	4300	6503	SO:0001819	synonymous_variant	0			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.570C>T	5.37:g.156649947C>T			B2R752|Q32ML7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.L190	ENST00000422843.3	37	c.570	CCDS4336.1	5																																																																																			ITK	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000113263		0.502	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	-	0.00	77	0	C			156649947	+1	tier1	-	no_errors	ENST00000422843	ensembl	human	known	74_37	silent	31.82	45	21	SNP	0.001	T
KANSL1	284058	genome.wustl.edu	37	17	44248467	44248467	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:44248467C>T	ENST00000262419.6	-	2	1513	c.1043G>A	c.(1042-1044)cGa>cAa	p.R348Q	KANSL1_ENST00000432791.1_Missense_Mutation_p.R348Q|KANSL1_ENST00000572904.1_Missense_Mutation_p.R348Q|KANSL1_ENST00000575318.1_Missense_Mutation_p.R348Q|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Missense_Mutation_p.R348Q|KANSL1_ENST00000576248.1_5'UTR	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	348					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TTCAGCCTTTCGAGTCAGCAT	0.458																																																	0													68.0	87.0	80.0					17																	44248467		2203	4300	6503	SO:0001583	missense	0			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1043G>A	17.37:g.44248467C>T	ENSP00000262419:p.Arg348Gln		A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	NULL	p.R348Q	ENST00000262419.6	37	c.1043	CCDS11503.1	17	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828438	0.71143	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.11604	2.76;2.76	5.94	5.94	0.96194	.	0.279693	0.33753	N	0.004596	T	0.22820	0.0551	L	0.27053	0.805	0.80722	D	1	D;D	0.67145	0.978;0.996	B;D	0.68192	0.361;0.956	T	0.00428	-1.1745	10	0.54805	T	0.06	-4.6431	18.9413	0.92607	0.0:1.0:0.0:0.0	.	348;348	C9JHY2;Q7Z3B3	.;K1267_HUMAN	Q	348	ENSP00000262419:R348Q;ENSP00000387393:R348Q	ENSP00000262419:R348Q	R	-	2	0	KIAA1267	41604244	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.359000	0.66074	2.826000	0.97356	0.561000	0.74099	CGA	KANSL1	-	NULL	ENSG00000120071		0.458	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	HGNC	protein_coding	OTTHUMT00000440274.1	-	0.00	82	0	C	NM_015443		44248467	-1	tier1	-	no_errors	ENST00000262419	ensembl	human	known	74_37	missense	48.72	40	38	SNP	1.000	T
KAT6A	7994	genome.wustl.edu	37	8	41792007	41792007	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:41792007G>A	ENST00000396930.3	-	18	4274	c.3731C>T	c.(3730-3732)gCa>gTa	p.A1244V	KAT6A_ENST00000265713.2_Missense_Mutation_p.A1244V|KAT6A_ENST00000406337.1_Missense_Mutation_p.A1244V	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1244					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ACTGCTGGCTGCAtcctcttc	0.572																																																	0													92.0	64.0	73.0					8																	41792007		2203	4300	6503	SO:0001583	missense	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3731C>T	8.37:g.41792007G>A	ENSP00000380136:p.Ala1244Val		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A1244V	ENST00000396930.3	37	c.3731	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	G	6.471	0.455135	0.12283	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.59364	0.27;0.27;0.27	5.95	5.95	0.96441	.	0.285799	0.35378	N	0.003245	T	0.34774	0.0909	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34551	-0.9824	10	0.54805	T	0.06	-7.0373	15.4623	0.75369	0.0678:0.0:0.9322:0.0	.	1244	Q92794	KAT6A_HUMAN	V	1244	ENSP00000265713:A1244V;ENSP00000385888:A1244V;ENSP00000380136:A1244V	ENSP00000265713:A1244V	A	-	2	0	KAT6A	41911164	0.003000	0.15002	0.776000	0.31678	0.061000	0.15899	1.385000	0.34408	2.825000	0.97269	0.655000	0.94253	GCA	KAT6A	-	NULL	ENSG00000083168		0.572	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1		0.00	65	0	G	NM_006766		41792007	-1			no_errors	ENST00000265713	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.022	A
KBTBD3	143879	genome.wustl.edu	37	11	105929763	105929763	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:105929763G>C	ENST00000531482.2	-	1	75	c.62C>G	c.(61-63)cCa>cGa	p.P21R	KBTBD3_ENST00000526793.1_Missense_Mutation_p.P21R|KBTBD3_ENST00000531837.1_Missense_Mutation_p.P21R|KBTBD3_ENST00000534815.1_Intron			Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	17										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CTTCTCAGATGGAATTCCATT	0.313																																																	0													66.0	65.0	65.0					11																	105929763		2199	4299	6498	SO:0001583	missense	0			AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000531482.2:c.62C>G	11.37:g.105929763G>C	ENSP00000475836:p.Pro21Arg		Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.P21R	ENST00000531482.2	37	c.62		11	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857702	0.51376	.	.	ENSG00000182359	ENST00000526793;ENST00000531837	T;T	0.66099	-0.19;-0.19	5.17	4.26	0.50523	.	0.399317	0.30311	N	0.009909	T	0.49575	0.1565	L	0.27053	0.805	0.32824	D	0.503103	B;B	0.22909	0.077;0.077	B;B	0.20955	0.032;0.032	T	0.59590	-0.7426	10	0.51188	T	0.08	.	13.9247	0.63955	0.0731:0.0:0.9269:0.0	.	21;17	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	R	21	ENSP00000436262:P21R;ENSP00000432163:P21R	ENSP00000436262:P21R	P	-	2	0	KBTBD3	105434973	1.000000	0.71417	0.962000	0.40283	0.922000	0.55478	4.992000	0.63889	1.416000	0.47057	0.655000	0.94253	CCA	KBTBD3	-	pirsf_Kelch-like_gigaxonin	ENSG00000182359		0.313	KBTBD3-006	PUTATIVE	basic|exp_conf	protein_coding	KBTBD3	HGNC	protein_coding	OTTHUMT00000388708.2	-	0.00	84	0	G	NM_152433		105929763	-1	tier1	-	no_errors	ENST00000526793	ensembl	human	known	74_37	missense	28.77	51	21	SNP	0.994	C
KCNAB1	7881	genome.wustl.edu	37	3	155861167	155861167	+	Intron	SNP	C	C	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:155861167C>A	ENST00000490337.1	+	1	339				KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000471742.1_Nonsense_Mutation_p.S67*	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CATGGAATTTCGTTGCAGGAA	0.512																																																	0													108.0	104.0	105.0					3																	155861167		2203	4300	6503	SO:0001627	intron_variant	0			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.275+22492C>A	3.37:g.155861167C>A			A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Nonsense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.S67*	ENST00000490337.1	37	c.200	CCDS3174.1	3	.	.	.	.	.	.	.	.	.	.	C	39	7.340510	0.98224	.	.	ENSG00000169282	ENST00000471742	.	.	.	5.29	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.41890	D	0.990368	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2521	0.54603	0.0:0.9167:0.0:0.0833	.	.	.	.	X	67	.	ENSP00000418956:S67X	S	+	2	0	KCNAB1	157343861	0.994000	0.37717	0.009000	0.14445	0.929000	0.56500	3.535000	0.53575	1.360000	0.45960	-0.254000	0.11334	TCG	KCNAB1	-	NULL	ENSG00000169282		0.512	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	KCNAB1	HGNC	protein_coding	OTTHUMT00000351411.1		0.00	59	0	C	NM_003471		155861167	+1			no_errors	ENST00000471742	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	0.101	A
ICE1	23379	genome.wustl.edu	37	5	5463973	5463973	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:5463973G>A	ENST00000296564.7	+	13	4748	c.4526G>A	c.(4525-4527)cGt>cAt	p.R1509H		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1509					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GATAAGAGTCGTTTGCGAAAT	0.423																																																	0													51.0	49.0	50.0					5																	5463973		1909	4116	6025	SO:0001583	missense	0																														ENST00000296564.7:c.4526G>A	5.37:g.5463973G>A	ENSP00000296564:p.Arg1509His		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.R1509H	ENST00000296564.7	37	c.4526	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940503	0.73557	.	.	ENSG00000164151	ENST00000296564	T	0.12255	2.7	5.38	4.48	0.54585	.	.	.	.	.	T	0.20981	0.0505	L	0.27053	0.805	0.20873	N	0.999834	D	0.89917	1.0	D	0.71414	0.973	T	0.12319	-1.0552	9	0.15499	T	0.54	-10.3331	12.2513	0.54599	0.0:0.1697:0.8303:0.0	.	1509	Q9Y2F5	K0947_HUMAN	H	1509	ENSP00000296564:R1509H	ENSP00000296564:R1509H	R	+	2	0	KIAA0947	5516973	0.000000	0.05858	0.593000	0.28771	0.986000	0.74619	0.608000	0.24223	2.524000	0.85096	0.460000	0.39030	CGT	KIAA0947	-	NULL	ENSG00000164151		0.423	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	-	0.00	70	0	G			5463973	+1	tier1	-	no_errors	ENST00000296564	ensembl	human	known	74_37	missense	29.58	50	21	SNP	0.307	A
KIF13B	23303	genome.wustl.edu	37	8	28980968	28980968	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:28980968C>G	ENST00000524189.1	-	28	3432	c.3394G>C	c.(3394-3396)Gag>Cag	p.E1132Q	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1132					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AACCGCATCTCCAGAAGCTGC	0.498																																																	0													137.0	135.0	136.0					8																	28980968		1961	4157	6118	SO:0001583	missense	0			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3394G>C	8.37:g.28980968C>G	ENSP00000427900:p.Glu1132Gln		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E1132Q	ENST00000524189.1	37	c.3394	CCDS55217.1	8	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269002	0.59540	.	.	ENSG00000197892	ENST00000524189	T	0.78364	-1.17	4.59	4.59	0.56863	.	0.103280	0.64402	D	0.000003	T	0.76190	0.3953	L	0.47716	1.5	0.80722	D	1	B	0.32918	0.39	B	0.37731	0.257	T	0.78727	-0.2091	10	0.66056	D	0.02	.	17.6617	0.88195	0.0:1.0:0.0:0.0	.	1132	F8VPJ2	.	Q	1132	ENSP00000427900:E1132Q	ENSP00000427900:E1132Q	E	-	1	0	KIF13B	29036887	1.000000	0.71417	0.982000	0.44146	0.233000	0.25261	7.215000	0.77966	2.377000	0.81083	0.650000	0.86243	GAG	KIF13B	-	NULL	ENSG00000197892		0.498	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	-	0.00	64	0	C			28980968	-1	tier1	-	no_errors	ENST00000524189	ensembl	human	known	74_37	missense	28.89	32	13	SNP	1.000	G
KIF15	56992	genome.wustl.edu	37	3	44819651	44819651	+	Silent	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:44819651C>T	ENST00000326047.4	+	4	440	c.291C>T	c.(289-291)tgC>tgT	p.C97C		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	97	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TGGAGTCTTGCATGAGCGGTT	0.338																																																	0													302.0	277.0	285.0					3																	44819651		2203	4300	6503	SO:0001819	synonymous_variant	0			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.291C>T	3.37:g.44819651C>T			Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	NULL	p.A83V	ENST00000326047.4	37	c.248	CCDS33744.1	3																																																																																			KIF15	-	NULL	ENSG00000163808		0.338	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	HGNC	protein_coding	OTTHUMT00000343831.2	-	0.00	77	0	C			44819651	+1	tier1	-	no_errors	ENST00000438321	ensembl	human	known	74_37	missense	28.57	70	28	SNP	1.000	T
KIF20B	9585	genome.wustl.edu	37	10	91528563	91528563	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr10:91528563C>A	ENST00000371728.3	+	31	5225	c.5160C>A	c.(5158-5160)aaC>aaA	p.N1720K	KIF20B_ENST00000416354.1_Missense_Mutation_p.N1750K|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.N1680K	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1720	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTGGTGTAAACCTGGCCACTA	0.333																																																	0													100.0	102.0	101.0					10																	91528563		2203	4300	6503	SO:0001583	missense	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5160C>A	10.37:g.91528563C>A	ENSP00000360793:p.Asn1720Lys		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.N1750K	ENST00000371728.3	37	c.5250		10	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538223	0.27475	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.39997	1.05;1.05;1.05	5.5	1.12	0.20585	.	0.217785	0.32473	N	0.006055	T	0.38772	0.1053	N	0.25144	0.715	0.09310	N	0.999998	D;B	0.69078	0.997;0.017	D;B	0.75484	0.986;0.011	T	0.19976	-1.0289	10	0.21540	T	0.41	-10.6084	3.6107	0.08060	0.1155:0.482:0.2473:0.1551	.	1720;1680	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	K	1680;1750;1720	ENSP00000260753:N1680K;ENSP00000411545:N1750K;ENSP00000360793:N1720K	ENSP00000260753:N1680K	N	+	3	2	KIF20B	91518543	0.000000	0.05858	0.005000	0.12908	0.901000	0.52897	-1.670000	0.01956	0.270000	0.21984	-0.228000	0.12330	AAC	KIF20B	-	NULL	ENSG00000138182		0.333	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	-	0.00	96	0	C	NM_016195		91528563	+1	tier1	-	no_errors	ENST00000416354	ensembl	human	known	74_37	missense	32.67	68	33	SNP	0.001	A
KLHL29	114818	genome.wustl.edu	37	2	23914666	23914666	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:23914666C>T	ENST00000486442.1	+	7	1919	c.1202C>T	c.(1201-1203)tCg>tTg	p.S401L		NM_052920.1	NP_443152.1	Q96CT2	KLH29_HUMAN	kelch-like family member 29	401	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|lung(1)|ovary(3)	10						GTCATCGACTCGGCCAACGCC	0.622																																																	0													48.0	57.0	54.0					2																	23914666		692	1591	2283	SO:0001583	missense	0				CCDS54335.1	2p23.3	2013-09-27	2013-02-22	2007-01-09	ENSG00000119771	ENSG00000119771		"""Kelch-like"", ""BTB/POZ domain containing"""	29404	protein-coding gene	gene with protein product			"""kelch repeat and BTB (POZ) domain containing 9"", ""kelch-like 29 (Drosophila)"""	KBTBD9		11572484	Standard	NM_052920		Approved	KIAA1921	uc010ykg.2	Q96CT2	OTTHUMG00000151899	ENST00000486442.1:c.1202C>T	2.37:g.23914666C>T	ENSP00000420659:p.Ser401Leu		Q8N388|Q96BF0|Q96PW7	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.S401L	ENST00000486442.1	37	c.1202	CCDS54335.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.13|18.13	3.554807|3.554807	0.65425|0.65425	.|.	.|.	ENSG00000119771|ENSG00000119771	ENST00000288548|ENST00000486442	.|T	.|0.67865	.|-0.29	5.58|5.58	5.58|5.58	0.84498|0.84498	.|BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55593|0.55593	0.1930|0.1930	L|L	0.33137|0.33137	0.985|0.985	0.80722|0.80722	D|D	1|1	.|D;D	.|0.54601	.|0.958;0.967	.|B;B	.|0.35413	.|0.202;0.191	T|T	0.64639|0.64639	-0.6360|-0.6360	5|10	.|0.66056	.|D	.|0.02	.|.	19.9662|19.9662	0.97271|0.97271	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|181;181	.|Q96CT2;Q96CT2-2	.|KLH29_HUMAN;.	W|L	241|401	.|ENSP00000420659:S401L	.|ENSP00000420659:S401L	R|S	+|+	1|2	2|0	KLHL29|KLHL29	23768171|23768171	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.966000|4.966000	0.63715|0.63715	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CGG|TCG	KLHL29	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000119771		0.622	KLHL29-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	KLHL29	HGNC	protein_coding	OTTHUMT00000324315.3	-	0.00	65	0	C	NM_052920		23914666	+1	tier1	-	no_errors	ENST00000486442	ensembl	human	known	74_37	missense	36.11	46	26	SNP	1.000	T
KMT2D	8085	genome.wustl.edu	37	12	49420423	49420423	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr12:49420423C>A	ENST00000301067.7	-	48	15325	c.15326G>T	c.(15325-15327)tGc>tTc	p.C5109F		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5109			C -> F (in KABUK1). {ECO:0000269|PubMed:20711175}.		chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.C5109F(1)|p.C4839F(1)									GACATTGGGGCAACGCATGCG	0.547																																																	2	Substitution - Missense(2)	prostate(2)											67.0	68.0	68.0					12																	49420423		2163	4254	6417	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15326G>T	12.37:g.49420423C>A	ENSP00000301067:p.Cys5109Phe		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.C5109F	ENST00000301067.7	37	c.15326	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032824	0.35893	.	.	ENSG00000167548	ENST00000301067	D	0.94330	-3.4	4.77	4.77	0.60923	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.39909	N	0.001227	D	0.97826	0.9286	H	0.96269	3.795	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.99271	1.0893	10	0.87932	D	0	.	16.9322	0.86193	0.0:1.0:0.0:0.0	.	5109	O14686	MLL2_HUMAN	F	5109	ENSP00000301067:C5109F	ENSP00000301067:C5109F	C	-	2	0	MLL2	47706690	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.377000	0.81083	0.561000	0.74099	TGC	KMT2D	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING	ENSG00000167548		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0.00	32	0	C			49420423	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	45.45	18	15	SNP	1.000	A
KMT2D	8085	genome.wustl.edu	37	12	49441854	49441854	+	Splice_Site	SNP	T	T	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr12:49441854T>G	ENST00000301067.7	-	14	4131		c.e14-2			NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ACACATGTCCTGGGGAAACAC	0.537																																																	0													54.0	60.0	58.0					12																	49441854		2048	4183	6231	SO:0001630	splice_region_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4132-2A>C	12.37:g.49441854T>G			O14687	Splice_Site	SNP	-	e14-2	ENST00000301067.7	37	c.4132-2	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	T	25.5	4.647768	0.87958	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1973	0.73104	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47728121	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	8.015000	0.88690	2.231000	0.72958	0.460000	0.39030	.	KMT2D	-	-	ENSG00000167548		0.537	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0.00	64	0	T		Intron	49441854	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	splice_site	44.74	21	17	SNP	1.000	G
L3MBTL3	84456	genome.wustl.edu	37	6	130374096	130374096	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:130374096C>T	ENST00000529410.1	+	9	1021	c.542C>T	c.(541-543)gCt>gTt	p.A181V	L3MBTL3_ENST00000361794.2_Missense_Mutation_p.A181V|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.A156V|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.A181V|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.A156V|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.A156V			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	181					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TCTCTGAAAGCTGACACCAAG	0.453																																																	0													84.0	72.0	76.0					6																	130374096		2203	4300	6503	SO:0001583	missense	0			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.542C>T	6.37:g.130374096C>T	ENSP00000431962:p.Ala181Val		Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.A181V	ENST00000529410.1	37	c.542	CCDS34537.1	6	.	.	.	.	.	.	.	.	.	.	C	1.481	-0.557129	0.03967	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000528385;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T;T	0.44881	2.5;2.51;2.5;0.91;2.51;2.51;2.5	5.03	2.05	0.26809	.	0.546869	0.20449	N	0.092138	T	0.06690	0.0171	N	0.08118	0	0.22171	N	0.999317	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.33189	-0.9878	10	0.27785	T	0.31	.	5.1348	0.14928	0.1201:0.6081:0.1175:0.1543	.	156;181	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	V	181;156;181;181;156;156;181	ENSP00000431962:A181V;ENSP00000437185:A156V;ENSP00000354526:A181V;ENSP00000433257:A181V;ENSP00000357121:A156V;ENSP00000436706:A156V;ENSP00000357118:A181V	ENSP00000354526:A181V	A	+	2	0	L3MBTL3	130415789	0.060000	0.20803	0.625000	0.29200	0.086000	0.17979	0.224000	0.17738	0.643000	0.30638	-1.119000	0.02030	GCT	L3MBTL3	-	NULL	ENSG00000198945		0.453	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	HGNC	protein_coding	OTTHUMT00000042195.2	-	0.00	52	0	C	XM_027074		130374096	+1	tier1	-	no_errors	ENST00000361794	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.080	T
LAMA5	3911	genome.wustl.edu	37	20	60886979	60886979	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr20:60886979G>A	ENST00000252999.3	-	70	9698	c.9632C>T	c.(9631-9633)aCg>aTg	p.T3211M	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3211	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCTCACCCCGTGGCATTGCT	0.647																																																	0													57.0	63.0	61.0					20																	60886979		2203	4299	6502	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9632C>T	20.37:g.60886979G>A	ENSP00000252999:p.Thr3211Met		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.T3211M	ENST00000252999.3	37	c.9632	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	g	16.18	3.051403	0.55218	.	.	ENSG00000130702	ENST00000252999	T	0.44482	0.92	4.73	3.71	0.42584	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.375975	0.28653	N	0.014593	T	0.45617	0.1351	M	0.63843	1.955	0.09310	N	0.999997	D	0.57257	0.979	P	0.49597	0.616	T	0.40739	-0.9547	10	0.59425	D	0.04	.	8.6328	0.33930	0.0:0.1388:0.5971:0.2641	.	3211	O15230	LAMA5_HUMAN	M	3211	ENSP00000252999:T3211M	ENSP00000252999:T3211M	T	-	2	0	LAMA5	60320374	0.000000	0.05858	0.018000	0.16275	0.620000	0.37586	0.456000	0.21859	2.177000	0.69029	0.556000	0.70494	ACG	LAMA5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000130702		0.647	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	0.00	208	0	G	NM_005560		60886979	-1	tier1	-	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	36.65	117	70	SNP	0.002	A
LATS1	9113	genome.wustl.edu	37	6	150005070	150005070	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:150005070G>T	ENST00000543571.1	-	4	1702	c.1155C>A	c.(1153-1155)agC>agA	p.S385R	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Missense_Mutation_p.S385R|LATS1_ENST00000253339.5_Missense_Mutation_p.S385R	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.S385S(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AAGCAGAAGGGCTTTGTCCAT	0.453																																																	2	Substitution - coding silent(2)	endometrium(2)											75.0	75.0	75.0					6																	150005070		2203	4300	6503	SO:0001583	missense	0			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1155C>A	6.37:g.150005070G>T	ENSP00000437550:p.Ser385Arg			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.S385R	ENST00000543571.1	37	c.1155	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331269	0.24167	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.54866	0.55;0.55;3.12	5.39	3.25	0.37280	.	0.000000	0.64402	D	0.000001	T	0.46678	0.1405	L	0.43152	1.355	0.47905	D	0.999542	P;D;B	0.63046	0.944;0.992;0.014	B;P;B	0.59948	0.383;0.866;0.007	T	0.42241	-0.9463	9	.	.	.	.	11.4208	0.49980	0.2253:0.0:0.7747:0.0	.	237;385;385	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	R	385	ENSP00000437550:S385R;ENSP00000253339:S385R;ENSP00000444678:S385R	.	S	-	3	2	LATS1	150046763	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	1.452000	0.35156	1.269000	0.44280	0.655000	0.94253	AGC	LATS1	-	NULL	ENSG00000131023		0.453	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4		0.00	42	0	G	NM_004690		150005070	-1			no_errors	ENST00000253339	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T
LDLRAD2	401944	genome.wustl.edu	37	1	22148718	22148718	+	3'UTR	SNP	C	C	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:22148718C>G	ENST00000344642.2	+	0	1016				HSPG2_ENST00000486901.1_5'Flank|LDLRAD2_ENST00000484271.1_3'UTR|LDLRAD2_ENST00000543870.1_3'UTR	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2							integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		AAGCCCTCATCAAAGACTCAG	0.587																																																	0													51.0	56.0	54.0					1																	22148718		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 2"""				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.*10C>G	1.37:g.22148718C>G			B9EJB3|Q6ZSN5	RNA	SNP	-	NULL	ENST00000344642.2	37	NULL	CCDS30624.1	1																																																																																			LDLRAD2	-	-	ENSG00000187942		0.587	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAD2	HGNC	protein_coding	OTTHUMT00000007601.1	-	0.00	142	0	C	NM_001013693		22148718	+1	tier1	-	no_errors	ENST00000484271	ensembl	human	known	74_37	rna	31.31	68	31	SNP	0.001	G
LINC00470	56651	genome.wustl.edu	37	18	1278582	1278582	+	lincRNA	SNP	A	A	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr18:1278582A>G	ENST00000412816.3	-	0	307							Q9BZP3	CR002_HUMAN	long intergenic non-protein coding RNA 470											pancreas(1)	1						gctcctccagatggctttggc	0.542																																																	0																																												0			AF295730		18p11.32	2012-10-12	2011-08-31	2011-08-31	ENSG00000132204	ENSG00000132204		"""Long non-coding RNAs"""	1225	non-coding RNA	RNA, long non-coding			"""chromosome 18 open reading frame 2"""	C18orf2		11173868	Standard	NR_023925		Approved		uc002klg.2	Q9BZP3			18.37:g.1278582A>G			Q9BZP2|Q9BZP4	RNA	SNP	-	NULL	ENST00000412816.3	37	NULL		18	.	.	.	.	.	.	.	.	.	.	A	1.499	-0.552562	0.03996	.	.	ENSG00000132204	ENST00000269201	.	.	.	.	.	.	.	.	.	.	.	T	0.48370	0.1496	.	.	.	.	.	.	.	.	.	.	.	.	T	0.58526	-0.7621	2	0.87932	D	0	.	.	.	.	.	.	.	.	T	19	.	ENSP00000269201:I19T	I	-	2	0	C18orf2	1268582	0.056000	0.20664	0.050000	0.19076	0.051000	0.14879	0.164000	0.16542	0.103000	0.17682	0.102000	0.15555	ATC	LINC00470	-	-	ENSG00000132204		0.542	LINC00470-001	KNOWN	basic	lincRNA	LINC00470	HGNC	lincRNA	OTTHUMT00000441551.1	-	0.00	73	0	A	NR_023925		1278582	-1	tier1	-	no_errors	ENST00000269201	ensembl	human	known	74_37	rna	27.03	54	20	SNP	0.053	G
LMAN2	10960	genome.wustl.edu	37	5	176761300	176761300	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:176761300G>A	ENST00000303127.7	-	7	1099	c.895C>T	c.(895-897)Ctc>Ttc	p.L299F	LMAN2_ENST00000515209.1_Missense_Mutation_p.L299F	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	299					positive regulation of phagocytosis (GO:0050766)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|heat shock protein binding (GO:0031072)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCGACTTGAGGAAGTTGACG	0.627																																																	0													113.0	85.0	95.0					5																	176761300		2203	4300	6503	SO:0001583	missense	0			U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223			16986	protein-coding gene	gene with protein product		609551	"""chromosome 5 open reading frame 8"""	C5orf8		12609988	Standard	NM_006816		Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000303127.7:c.895C>T	5.37:g.176761300G>A	ENSP00000303366:p.Leu299Phe		Q53HH1	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	p.L299F	ENST00000303127.7	37	c.895	CCDS4417.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.78|17.78	3.472397|3.472397	0.63737|0.63737	.|.	.|.	ENSG00000169223|ENSG00000169223	ENST00000303127;ENST00000539488;ENST00000515209|ENST00000514458	T;T|T	0.66099|0.70399	-0.11;-0.19|-0.48	5.53|5.53	4.67|4.67	0.58626|0.58626	.|.	0.253027|.	0.40222|.	N|.	0.001159|.	T|T	0.66781|0.66781	0.2824|0.2824	N|N	0.21508|0.21508	0.67|0.67	0.80722|0.80722	D|D	1|1	D;B|.	0.63046|.	0.992;0.002|.	P;B|.	0.53912|.	0.737;0.002|.	T|T	0.70828|0.70828	-0.4766|-0.4766	10|7	0.07990|0.72032	T|D	0.79|0.01	-24.1809|-24.1809	13.8171|13.8171	0.63299|0.63299	0.0742:0.0:0.9258:0.0|0.0742:0.0:0.9258:0.0	.|.	299;299|.	Q12907;D6RBV2|.	LMAN2_HUMAN;.|.	F|L	299;228;299|184	ENSP00000303366:L299F;ENSP00000423998:L299F|ENSP00000424132:P184L	ENSP00000303366:L299F|ENSP00000424132:P184L	L|P	-|-	1|2	0|0	LMAN2|LMAN2	176693906|176693906	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.894000|0.894000	0.52154|0.52154	5.751000|5.751000	0.68720|0.68720	1.337000|1.337000	0.45525|0.45525	0.563000|0.563000	0.77884|0.77884	CTC|CCT	LMAN2	-	NULL	ENSG00000169223		0.627	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN2	HGNC	protein_coding	OTTHUMT00000253434.1	-	0.00	66	0	G	NM_006816		176761300	-1	tier1	-	no_errors	ENST00000303127	ensembl	human	known	74_37	missense	40.58	41	28	SNP	1.000	A
FAM231C	729587	genome.wustl.edu	37	1	16865725	16865725	+	Silent	SNP	C	C	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:16865725C>G	ENST00000601199.1	+	1	165	c.165C>G	c.(163-165)gtC>gtG	p.V55V																								GCCTGAGTGTCAGAGCTCAGA	0.587																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000601199.1:c.165C>G	1.37:g.16865725C>G				Silent	SNP	NULL	p.V55	ENST00000601199.1	37	c.165		1																																																																																			AL355149.2	-	NULL	ENSG00000268674		0.587	AL355149.2-201	KNOWN	basic|appris_principal	protein_coding	LOC100133301	Clone_based_ensembl_gene	protein_coding		-	0.00	70	0	C			16865725	+1	tier1	-	no_errors	ENST00000601199	ensembl	human	known	74_37	silent	31.15	42	19	SNP	0.025	G
LRBA	987	genome.wustl.edu	37	4	151604720	151604720	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:151604720C>T	ENST00000357115.3	-	37	6147	c.5904G>A	c.(5902-5904)tgG>tgA	p.W1968*	LRBA_ENST00000507224.1_Nonsense_Mutation_p.W1968*|LRBA_ENST00000535741.1_Nonsense_Mutation_p.W1968*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.W1968*	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1968						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CAGAATTTCCCCAGGCTCCAT	0.398																																																	0													225.0	210.0	215.0					4																	151604720		2203	4300	6503	SO:0001587	stop_gained	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5904G>A	4.37:g.151604720C>T	ENSP00000349629:p.Trp1968*		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.W1968*	ENST00000357115.3	37	c.5904	CCDS3773.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	49|49	15.786289|15.786289	0.99845|0.99845	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|.	.|.	.|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.46983|.	0.1421|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37911|.	-0.9685|.	3|.	.|0.02654	.|T	.|1	.|.	19.0671|19.0671	0.93116|0.93116	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	621|1968	.|.	.|ENSP00000349629:W1968X	G|W	-|-	2|3	0|0	LRBA|LRBA	151824170|151824170	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.776000|7.776000	0.85560|0.85560	2.589000|2.589000	0.87451|0.87451	0.585000|0.585000	0.79938|0.79938	GGG|TGG	LRBA	-	pfam_DUF1088	ENSG00000198589		0.398	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	-	0.00	90	0	C			151604720	-1	tier1	-	no_errors	ENST00000357115	ensembl	human	known	74_37	nonsense	31.51	50	23	SNP	1.000	T
LRFN2	57497	genome.wustl.edu	37	6	40360338	40360338	+	Missense_Mutation	SNP	C	C	T	rs371754423		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:40360338C>T	ENST00000338305.6	-	3	2256	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	572						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.V572M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACATTGCTCACGGCCGCTGCC	0.687																																																	1	Substitution - Missense(1)	large_intestine(1)							MET/VAL	1,4405	2.1+/-5.4	0,1,2202	40.0	37.0	38.0		1714	5.4	0.9	6		38	0,8600		0,0,4300	no	missense	LRFN2	NM_020737.1	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	572/790	40360338	1,13005	2203	4300	6503	SO:0001583	missense	0			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1714G>A	6.37:g.40360338C>T	ENSP00000345985:p.Val572Met		A5PKU3|Q5SYP9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V572M	ENST00000338305.6	37	c.1714	CCDS34443.1	6	.	.	.	.	.	.	.	.	.	.	c	11.72	1.723105	0.30503	2.27E-4	0.0	ENSG00000156564	ENST00000338305	T	0.59638	0.25	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.40862	0.1134	L	0.58428	1.81	0.48901	D	0.999721	P	0.44090	0.826	B	0.32864	0.154	T	0.53676	-0.8405	10	0.54805	T	0.06	.	17.7543	0.88445	0.0:1.0:0.0:0.0	.	572	Q9ULH4	LRFN2_HUMAN	M	572	ENSP00000345985:V572M	ENSP00000345985:V572M	V	-	1	0	LRFN2	40468316	1.000000	0.71417	0.918000	0.36340	0.170000	0.22686	7.774000	0.85478	2.527000	0.85204	0.651000	0.88453	GTG	LRFN2	-	NULL	ENSG00000156564		0.687	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	HGNC	protein_coding	OTTHUMT00000040488.1		0.00	13	0	C	XM_166372		40360338	-1			no_errors	ENST00000338305	ensembl	human	known	74_37	missense	11.11	16	2	SNP	0.998	T
LRP2	4036	genome.wustl.edu	37	2	170063036	170063036	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:170063036C>G	ENST00000263816.3	-	39	7479	c.7194G>C	c.(7192-7194)ttG>ttC	p.L2398F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2398					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GTAAGCTTCTCAAGGAATTAG	0.418																																																	0													85.0	85.0	85.0					2																	170063036		2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7194G>C	2.37:g.170063036C>G	ENSP00000263816:p.Leu2398Phe		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.L2398F	ENST00000263816.3	37	c.7194	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978832	0.53720	.	.	ENSG00000081479	ENST00000263816	D	0.92911	-3.13	6.07	3.87	0.44632	Six-bladed beta-propeller, TolB-like (1);	0.384213	0.26927	N	0.021798	D	0.92061	0.7484	M	0.76002	2.32	0.80722	D	1	D	0.54964	0.969	P	0.52856	0.711	D	0.90951	0.4805	10	0.72032	D	0.01	.	2.8895	0.05671	0.3226:0.4438:0.1377:0.096	.	2398	P98164	LRP2_HUMAN	F	2398	ENSP00000263816:L2398F	ENSP00000263816:L2398F	L	-	3	2	LRP2	169771282	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	0.970000	0.29383	1.481000	0.48307	0.655000	0.94253	TTG	LRP2	-	NULL	ENSG00000081479		0.418	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0.00	82	0	C	NM_004525		170063036	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	40.22	55	37	SNP	1.000	G
LRP6	4040	genome.wustl.edu	37	12	12317346	12317346	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr12:12317346C>T	ENST00000261349.4	-	9	1989	c.1913G>A	c.(1912-1914)cGg>cAg	p.R638Q	LRP6_ENST00000543091.1_Missense_Mutation_p.R638Q	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	638	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R638Q(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATCTGCTCTCCGTGAAAACAA	0.438																																																	1	Substitution - Missense(1)	large_intestine(1)											103.0	101.0	102.0					12																	12317346		2203	4300	6503	SO:0001583	missense	0			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1913G>A	12.37:g.12317346C>T	ENSP00000261349:p.Arg638Gln		Q17RZ2	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R638Q	ENST00000261349.4	37	c.1913	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045719	0.75846	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91124	-2.79;-2.79	5.65	5.65	0.86999	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.56097	D	0.000026	D	0.86285	0.5896	L	0.41124	1.26	0.58432	D	0.999999	D;P	0.63880	0.993;0.755	B;B	0.41299	0.353;0.062	D	0.83751	0.0209	10	0.10111	T	0.7	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	638;638	F5H7J9;O75581	.;LRP6_HUMAN	Q	638	ENSP00000261349:R638Q;ENSP00000442472:R638Q	ENSP00000261349:R638Q	R	-	2	0	LRP6	12208613	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	4.859000	0.62954	2.824000	0.97209	0.655000	0.94253	CGG	LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6	ENSG00000070018		0.438	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	-	0.00	90	0	C			12317346	-1	tier1	-	no_errors	ENST00000261349	ensembl	human	known	74_37	missense	15.79	48	9	SNP	1.000	T
LTBP3	4054	genome.wustl.edu	37	11	65315164	65315164	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:65315164C>T	ENST00000301873.5	-	13	2243	c.1975G>A	c.(1975-1977)Gtg>Atg	p.V659M	LTBP3_ENST00000529189.1_5'Flank|LTBP3_ENST00000322147.4_Missense_Mutation_p.V659M|LTBP3_ENST00000530785.1_5'Flank|LTBP3_ENST00000532932.1_Missense_Mutation_p.V89M|LTBP3_ENST00000536982.1_Missense_Mutation_p.V285M	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	659	Cys-rich.|EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CGCTCACCCACGCACGAGCGC	0.736																																																	0													9.0	11.0	10.0					11																	65315164		2166	4234	6400	SO:0001583	missense	0			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1975G>A	11.37:g.65315164C>T	ENSP00000301873:p.Val659Met		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.V659M	ENST00000301873.5	37	c.1975	CCDS44647.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.74|12.74	2.027834|2.027834	0.35797|0.35797	.|.	.|.	ENSG00000168056|ENSG00000168056	ENST00000526927|ENST00000322147;ENST00000301873;ENST00000532932;ENST00000536982;ENST00000530866	.|D;D;D;D;D	.|0.88277	.|-2.36;-2.36;-2.36;-2.36;-2.36	4.28|4.28	4.28|4.28	0.50868|0.50868	.|EGF-like calcium-binding (1);	.|1.352420	.|0.05158	.|N	.|0.497285	D|D	0.84288|0.84288	0.5439|0.5439	N|N	0.25245|0.25245	0.725|0.725	0.40011|0.40011	D|D	0.975288|0.975288	.|B;P;P;D;P;B	.|0.55385	.|0.223;0.59;0.796;0.971;0.68;0.313	.|B;B;B;B;B;B	.|0.42188	.|0.026;0.121;0.215;0.379;0.131;0.054	T|T	0.75977|0.75977	-0.3127|-0.3127	5|10	.|0.30854	.|T	.|0.27	.|.	14.2335|14.2335	0.65908|0.65908	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|570;285;542;659;659;89	.|E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2	.|.;.;.;LTBP3_HUMAN;.;.	H|M	309|659;659;89;285;570	.|ENSP00000326647:V659M;ENSP00000301873:V659M;ENSP00000435530:V89M;ENSP00000441912:V285M;ENSP00000435276:V570M	.|ENSP00000301873:V659M	R|V	-|-	2|1	0|0	LTBP3|LTBP3	65071740|65071740	0.971000|0.971000	0.33674|0.33674	1.000000|1.000000	0.80357|0.80357	0.384000|0.384000	0.30261|0.30261	0.492000|0.492000	0.22435|0.22435	2.215000|2.215000	0.71742|0.71742	0.313000|0.313000	0.20887|0.20887	CGT|GTG	LTBP3	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000168056		0.736	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	HGNC	protein_coding	OTTHUMT00000390538.1	-	0.00	68	0	C	NM_021070		65315164	-1	tier1	-	no_errors	ENST00000301873	ensembl	human	known	74_37	missense	39.74	47	31	SNP	1.000	T
MAS1	4142	genome.wustl.edu	37	6	160328513	160328513	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:160328513G>A	ENST00000252660.4	+	1	540	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	176					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		CGACAGAGAAGAAGAGAGTCA	0.537																																																	0													163.0	142.0	149.0					6																	160328513		2203	4300	6503	SO:0001583	missense	0			M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"""GPCR / Class A : Orphans"""	6899	protein-coding gene	gene with protein product		165180	"""MAS1 oncogene"""				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.526G>A	6.37:g.160328513G>A	ENSP00000252660:p.Glu176Lys		E1P5B3|Q2TBC9|Q6FG47	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas,prints_GPCR_Rhodpsn	p.E176K	ENST00000252660.4	37	c.526	CCDS5272.1	6	.	.	.	.	.	.	.	.	.	.	G	7.111	0.576068	0.13623	.	.	ENSG00000130368	ENST00000252660	T	0.37752	1.18	4.97	3.16	0.36331	GPCR, rhodopsin-like superfamily (1);	94.425000	0.00166	N	0.000011	T	0.11324	0.0276	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.20384	0.029	T	0.24404	-1.0161	10	0.13108	T	0.6	.	10.7883	0.46417	0.158:0.0:0.842:0.0	.	176	P04201	MAS_HUMAN	K	176	ENSP00000252660:E176K	ENSP00000252660:E176K	E	+	1	0	MAS1	160248503	0.000000	0.05858	0.001000	0.08648	0.599000	0.36880	0.490000	0.22403	1.071000	0.40834	0.655000	0.94253	GAA	MAS1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas	ENSG00000130368		0.537	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1	HGNC	protein_coding	OTTHUMT00000042930.2	-	0.00	19	0	G	NM_002377		160328513	+1	tier1	-	no_errors	ENST00000252660	ensembl	human	known	74_37	missense	26.09	17	6	SNP	0.000	A
MBTPS2	51360	genome.wustl.edu	37	X	21896680	21896681	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chrX:21896680_21896681insA	ENST00000379484.5	+	9	1230_1231	c.1131_1132insA	c.(1132-1134)aaafs	p.K378fs		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	378	Cys-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.S380fs*28(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						ATAAAGACTGTAAAAAAAGCTC	0.327																																																	1	Insertion - Frameshift(1)	lung(1)																																								SO:0001589	frameshift_variant	0			AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.1138dupA	X.37:g.21896687_21896687dupA	ENSP00000368798:p.Lys378fs		Q9UM70|Q9UMD3	Frame_Shift_Ins	INS	pfam_Peptidase_M50,superfamily_PDZ,prints_MBTPS2	p.S379fs	ENST00000379484.5	37	c.1131_1132	CCDS14201.1	X																																																																																			MBTPS2	-	pfam_Peptidase_M50	ENSG00000012174		0.327	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS2	HGNC	protein_coding	OTTHUMT00000056026.1		0.00	56	0	-			21896681	+1	tier1		no_errors	ENST00000379484	ensembl	human	known	74_37	frame_shift_ins	57.69	22	30	INS	1.000:0.994	A
MGA	23269	genome.wustl.edu	37	15	42003256	42003256	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr15:42003256T>A	ENST00000570161.1	+	7	2793	c.2793T>A	c.(2791-2793)caT>caA	p.H931Q	MGA_ENST00000566586.1_Missense_Mutation_p.H931Q|MGA_ENST00000389936.4_Missense_Mutation_p.H931Q|MGA_ENST00000545763.1_Missense_Mutation_p.H931Q|MGA_ENST00000219905.7_Missense_Mutation_p.H931Q			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATACTCTCATGTGATTCTAG	0.368																																																	0													145.0	143.0	143.0					15																	42003256		1871	4115	5986	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2793T>A	15.37:g.42003256T>A	ENSP00000457035:p.His931Gln		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.H931Q	ENST00000570161.1	37	c.2793	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	T	9.914	1.210383	0.22289	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.16743	2.32;2.32;2.32	5.84	2.0	0.26442	.	0.952655	0.08798	N	0.892187	T	0.10165	0.0249	N	0.17082	0.46	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.003	T	0.34403	-0.9830	10	0.44086	T	0.13	.	4.3355	0.11083	0.1236:0.0672:0.1292:0.68	.	931;931	F5H7K2;E7ENI0	.;.	Q	931	ENSP00000219905:H931Q;ENSP00000374586:H931Q;ENSP00000442467:H931Q	ENSP00000219905:H931Q	H	+	3	2	MGA	39790548	0.000000	0.05858	0.034000	0.17996	0.843000	0.47879	0.032000	0.13732	0.446000	0.26666	-0.250000	0.11733	CAT	MGA	-	NULL	ENSG00000174197		0.368	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0.00	81	0	T	NM_001164273.1		42003256	+1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	38.67	46	29	SNP	0.003	A
MGRN1	23295	genome.wustl.edu	37	16	4730035	4730035	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr16:4730035T>G	ENST00000399577.5	+	12	1161	c.1068T>G	c.(1066-1068)tgT>tgG	p.C356W	MGRN1_ENST00000586183.1_Intron|MGRN1_ENST00000588994.1_Intron|MGRN1_ENST00000415496.1_Intron|MGRN1_ENST00000262370.7_Missense_Mutation_p.C356W	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	356					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTTGACAGTGTCCCTTTAAAA	0.527																																																	0													72.0	80.0	77.0					16																	4730035		1878	4090	5968	SO:0001583	missense	0			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.1068T>G	16.37:g.4730035T>G	ENSP00000382487:p.Cys356Trp		A4URL3|A4URL4|Q86W76	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.C356W	ENST00000399577.5	37	c.1068	CCDS45402.1	16	.	.	.	.	.	.	.	.	.	.	T	18.27	3.587765	0.66105	.	.	ENSG00000102858	ENST00000262370;ENST00000399577	T;T	0.31510	1.49;1.51	5.57	3.3	0.37823	.	0.439772	0.21353	N	0.075932	T	0.27900	0.0687	N	0.22421	0.69	0.80722	D	1	D;D	0.63046	0.992;0.985	P;P	0.53146	0.719;0.628	T	0.03807	-1.1002	10	0.62326	D	0.03	-9.6517	6.1837	0.20486	0.0:0.2227:0.0:0.7773	.	356;356	O60291-2;O60291	.;MGRN1_HUMAN	W	356	ENSP00000262370:C356W;ENSP00000382487:C356W	ENSP00000262370:C356W	C	+	3	2	MGRN1	4670036	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.002000	0.29796	0.397000	0.25310	0.383000	0.25322	TGT	MGRN1	-	NULL	ENSG00000102858		0.527	MGRN1-004	KNOWN	basic|CCDS	protein_coding	MGRN1	HGNC	protein_coding	OTTHUMT00000432060.2	-	0.00	164	0	T			4730035	+1	tier1	-	no_errors	ENST00000262370	ensembl	human	known	74_37	missense	5.83	192	12	SNP	1.000	G
MT-ND2	4536	genome.wustl.edu	37	M	1729	1729	+	5'Flank	SNP	T	T	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chrM:1729T>G	ENST00000361453.3	+	0	0				MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						TAGCCAAACCATTTACCCAAA	0.403																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.1729T>G	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			MT-RNR2	-	-	ENSG00000210082		0.403	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	HGNC	protein_coding		-	0.00	43	0	T	YP_003024027		1729	+1	tier1	-	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	40.00	3	2	SNP	NULL	G
MT-CO1	4512	genome.wustl.edu	37	M	3042	3042	+	5'Flank	SNP	T	T	C			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chrM:3042T>C	ENST00000361624.2	+	0	0				MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-RNR2_ENST00000387347.2_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						AGGTTCGTTTGTTCAACGATT	0.448																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.3042T>C	Exception_encountered		Q34770	RNA	SNP	-	NULL	ENST00000361624.2	37	NULL		MT																																																																																			MT-RNR2	-	-	ENSG00000210082		0.448	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	HGNC	protein_coding		-	0.00	257	0	T	YP_003024028		3042	+1	tier1	-	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	90.59	8	77	SNP	NULL	C
MTMR8	55613	genome.wustl.edu	37	X	63569873	63569873	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chrX:63569873G>T	ENST00000374852.3	-	5	613	c.546C>A	c.(544-546)ttC>ttA	p.F182L	MTMR8_ENST00000453546.1_Missense_Mutation_p.F182L	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	182	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CTTTACTTCTGAACTTTGAAC	0.388																																																	1	Whole gene deletion(1)	ovary(1)											136.0	111.0	120.0					X																	63569873		2203	4300	6503	SO:0001583	missense	0			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.546C>A	X.37:g.63569873G>T	ENSP00000363985:p.Phe182Leu		Q5JT99|Q9NXP6	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat	p.F182L	ENST00000374852.3	37	c.546	CCDS14379.1	X	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103850	0.37145	.	.	ENSG00000102043	ENST00000453546;ENST00000374852	D;D	0.93811	-3.29;-3.29	2.81	1.92	0.25849	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.48286	U	0.000189	D	0.97654	0.9231	H	0.98901	4.365	0.50813	D	0.999899	D;D	0.89917	0.999;1.0	D;D	0.83275	0.991;0.996	D	0.95862	0.8884	10	0.87932	D	0	.	8.1705	0.31252	0.1335:0.0:0.8665:0.0	.	182;182	B4DQL0;Q96EF0	.;MTMR8_HUMAN	L	182	ENSP00000394003:F182L;ENSP00000363985:F182L	ENSP00000363985:F182L	F	-	3	2	MTMR8	63486598	1.000000	0.71417	0.743000	0.31040	0.852000	0.48524	3.588000	0.53964	0.369000	0.24510	0.513000	0.50165	TTC	MTMR8	-	pfam_Myotubularin-like_Pase_dom	ENSG00000102043		0.388	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR8	HGNC	protein_coding	OTTHUMT00000056949.2	-	0.00	79	0	G	NM_017677		63569873	-1	tier1	-	no_errors	ENST00000374852	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T
MTOR	2475	genome.wustl.edu	37	1	11187803	11187803	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:11187803C>T	ENST00000361445.4	-	44	6170	c.6094G>A	c.(6094-6096)Gaa>Aaa	p.E2032K	MTOR_ENST00000376838.1_Missense_Mutation_p.E237K	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2032	Sufficient for interaction with the FKBP1A/rapamycin complex. {ECO:0000250}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GATGCCTCTTCCAGGCCTTCA	0.537																																																	0													214.0	220.0	218.0					1																	11187803		2203	4300	6503	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6094G>A	1.37:g.11187803C>T	ENSP00000354558:p.Glu2032Lys		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E2032K	ENST00000361445.4	37	c.6094	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	37	5.982923	0.97173	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.11930	2.91;2.73	5.8	5.8	0.92144	FKBP12-rapamycin-associated protein, FKBP12-rapamycin-binding (3);	0.000000	0.85682	D	0.000000	T	0.52240	0.1722	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.64136	-0.6478	10	0.62326	D	0.03	-17.5853	20.063	0.97692	0.0:1.0:0.0:0.0	.	2032	P42345	MTOR_HUMAN	K	2032;237	ENSP00000354558:E2032K;ENSP00000366034:E237K	ENSP00000354558:E2032K	E	-	1	0	MTOR	11110390	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.456000	0.80751	2.735000	0.93741	0.655000	0.94253	GAA	MTOR	-	pfam_Rapamycin-bd_dom,superfamily_Rapamycin-bd_dom	ENSG00000198793		0.537	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	-	0.00	54	0	C	NM_004958		11187803	-1	tier1	-	no_errors	ENST00000361445	ensembl	human	known	74_37	missense	44.74	21	17	SNP	1.000	T
MTUS1	57509	genome.wustl.edu	37	8	17542007	17542007	+	Missense_Mutation	SNP	G	G	T	rs201957190		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:17542007G>T	ENST00000262102.6	-	7	2892	c.2668C>A	c.(2668-2670)Cca>Aca	p.P890T	MTUS1_ENST00000519263.1_Missense_Mutation_p.P836T|MTUS1_ENST00000544260.1_Missense_Mutation_p.P35T|MTUS1_ENST00000381869.3_Missense_Mutation_p.P836T|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000297488.6_Missense_Mutation_p.P56T|MTUS1_ENST00000381861.3_Missense_Mutation_p.P137T|MIR548V_ENST00000584165.1_RNA	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	890					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GCTGTCTGTGGCTGGATACAT	0.398																																																	0													222.0	217.0	219.0					8																	17542007		1911	4127	6038	SO:0001583	missense	0			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2668C>A	8.37:g.17542007G>T	ENSP00000262102:p.Pro890Thr		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	superfamily_Ferritin-like_SF	p.P890T	ENST00000262102.6	37	c.2668	CCDS43717.1	8	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.659043	0.00772	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34	5.01	3.78	0.43462	.	0.315979	0.38837	N	0.001548	T	0.13628	0.0330	N	0.00275	-1.725	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.29701	-1.0003	10	0.02654	T	1	-10.9541	8.2206	0.31539	0.0:0.071:0.3561:0.5729	.	836;890;137;56	Q9ULD2-2;Q9ULD2;Q9ULD2-6;Q9ULD2-3	.;MTUS1_HUMAN;.;.	T	836;35;56;137;890;836	ENSP00000371293:P836T;ENSP00000445738:P35T;ENSP00000297488:P56T;ENSP00000371285:P137T;ENSP00000262102:P890T;ENSP00000430167:P836T	ENSP00000262102:P890T	P	-	1	0	MTUS1	17586287	1.000000	0.71417	0.989000	0.46669	0.198000	0.23893	0.959000	0.29240	1.049000	0.40321	-0.256000	0.11100	CCA	MTUS1	-	NULL	ENSG00000129422		0.398	MTUS1-001	KNOWN	basic|CCDS	protein_coding	MTUS1	HGNC	protein_coding	OTTHUMT00000375247.1		0.00	66	0	G	XM_372031		17542007	-1			no_errors	ENST00000262102	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.984	T
MUC4	4585	genome.wustl.edu	37	3	195511581	195511581	+	Silent	SNP	A	A	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:195511581A>G	ENST00000463781.3	-	2	7329	c.6870T>C	c.(6868-6870)ccT>ccC	p.P2290P	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.P2290P	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGCTAGTGACAGGAAGAGGAG	0.582																																																	0													8.0	10.0	10.0					3																	195511581		574	1491	2065	SO:0001819	synonymous_variant	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6870T>C	3.37:g.195511581A>G			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.P2290	ENST00000463781.3	37	c.6870	CCDS54700.1	3																																																																																			MUC4	-	NULL	ENSG00000145113		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	-	0.00	245	0	A	NM_018406		195511581	-1	tier1	-	no_errors	ENST00000463781	ensembl	human	known	74_37	silent	20.41	195	50	SNP	0.019	G
MYT1	4661	genome.wustl.edu	37	20	62844938	62844938	+	Silent	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr20:62844938G>A	ENST00000328439.1	+	10	1933	c.1569G>A	c.(1567-1569)gaG>gaA	p.E523E	MYT1_ENST00000360149.4_Silent_p.E225E|MYT1_ENST00000536311.1_Silent_p.E523E	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AATCCCATGAGAAGCAGCAGC	0.542																																					GBM(59;481 1041 20555 21139 33705)												0													84.0	89.0	88.0					20																	62844938		2203	4300	6503	SO:0001819	synonymous_variant	0			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1569G>A	20.37:g.62844938G>A			B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.E523	ENST00000328439.1	37	c.1569	CCDS13558.1	20																																																																																			MYT1	-	NULL	ENSG00000196132		0.542	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	-	0.00	65	0	G	NM_004535		62844938	+1	tier1	-	no_errors	ENST00000536311	ensembl	human	known	74_37	silent	25.00	36	12	SNP	1.000	A
N6AMT2	221143	genome.wustl.edu	37	13	21331503	21331503	+	Intron	SNP	G	G	T	rs78933134	byFrequency	TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr13:21331503G>T	ENST00000382758.1	-	2	192				N6AMT2_ENST00000382754.4_Intron|N6AMT2_ENST00000460374.1_5'UTR			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)							extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		CAGAGATTCCGGTTTTAGGTG	0.418																																																	0																																										SO:0001627	intron_variant	0			AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.144+90C>A	13.37:g.21331503G>T			B5G4V1	RNA	SNP	-	NULL	ENST00000382758.1	37	NULL	CCDS9293.1	13																																																																																			N6AMT2	-	-	ENSG00000150456		0.418	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	N6AMT2	HGNC	protein_coding	OTTHUMT00000044083.1	-	0.00	46	0	G	NM_174928		21331503	-1	tier1	-	no_errors	ENST00000460374	ensembl	human	known	74_37	rna	30.30	23	10	SNP	0.000	T
NAALADL1	10004	genome.wustl.edu	37	11	64815123	64815123	+	Missense_Mutation	SNP	G	G	A	rs202090288		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:64815123G>A	ENST00000358658.3	-	12	1531	c.1504C>T	c.(1504-1506)Ccc>Tcc	p.P502S	NAALADL1_ENST00000339885.2_Missense_Mutation_p.P502S|NAALADL1_ENST00000356632.3_Missense_Mutation_p.P467S|NAALADL1_ENST00000355369.2_Missense_Mutation_p.P502S|RN7SL114P_ENST00000582042.1_RNA|NAALADL1_ENST00000340252.4_Missense_Mutation_p.P553S|NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000355721.3_Missense_Mutation_p.P461S|NAALADL1_ENST00000526799.1_5'UTR	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	502	NAALADase.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GCTTACCTGGGGACCAGGCCG	0.672																																																	0													28.0	29.0	29.0					11																	64815123		2201	4297	6498	SO:0001583	missense	0			AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.1504C>T	11.37:g.64815123G>A	ENSP00000351484:p.Pro502Ser		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.P502S	ENST00000358658.3	37	c.1504	CCDS31604.1	11	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404077	0.42613	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T;T	0.52295	1.07;0.88;0.67;1.07;1.07;1.07	5.01	3.01	0.34805	Peptidase M28 (1);	0.055063	0.85682	N	0.000000	T	0.68026	0.2956	M	0.86343	2.81	0.48511	D	0.999662	D	0.89917	1.0	D	0.85130	0.997	T	0.70417	-0.4877	10	0.72032	D	0.01	.	8.0341	0.30482	0.091:0.1613:0.7477:0.0	.	502	Q9UQQ1	NALDL_HUMAN	S	502;502;502;502;553;461;467	ENSP00000351484:P502S;ENSP00000347530:P502S;ENSP00000340111:P502S;ENSP00000344244:P553S;ENSP00000347955:P461S;ENSP00000349045:P467S	ENSP00000340111:P502S	P	-	1	0	NAALADL1	64571699	1.000000	0.71417	0.837000	0.33122	0.154000	0.21943	6.036000	0.70948	1.126000	0.42016	-0.266000	0.10368	CCC	NAALADL1	-	pfam_Peptidase_M28	ENSG00000168060		0.672	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL1	HGNC	protein_coding	OTTHUMT00000385162.1	-	0.00	54	0	G	NM_005468		64815123	-1	tier1	-	no_errors	ENST00000358658	ensembl	human	known	74_37	missense	33.33	40	20	SNP	0.986	A
NARFL	64428	genome.wustl.edu	37	16	784156	784156	+	Intron	SNP	C	C	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr16:784156C>G	ENST00000251588.2	-	6	710				NARFL_ENST00000540986.1_Intron|NARFL_ENST00000301694.5_Intron|HAGHL_ENST00000569604.1_3'UTR|NARFL_ENST00000568545.1_Intron|NARFL_ENST00000562862.1_5'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like						hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				CCTGCAGCCTCATGGCAAGAG	0.627																																																	0																																										SO:0001627	intron_variant	0			AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.693+72G>C	16.37:g.784156C>G			A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	RNA	SNP	-	NULL	ENST00000251588.2	37	NULL	CCDS10425.1	16																																																																																			NARFL	-	-	ENSG00000103245		0.627	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARFL	HGNC	protein_coding	OTTHUMT00000242855.1	-	0.00	64	0	C	NM_022493		784156	-1	tier1	-	no_errors	ENST00000562862	ensembl	human	known	74_37	rna	41.38	34	24	SNP	0.000	G
NEB	4703	genome.wustl.edu	37	2	152436107	152436107	+	Intron	SNP	G	G	A	rs546992311	byFrequency	TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:152436107G>A	ENST00000172853.10	-	78	11749				NEB_ENST00000409198.1_Intron|NEB_ENST00000427231.2_Silent_p.S5483S|NEB_ENST00000604864.1_Silent_p.S5483S|NEB_ENST00000397345.3_Silent_p.S5483S|NEB_ENST00000603639.1_Silent_p.S5483S			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTCCTTGGCGCTGCGACAGC	0.428													A|||	63	0.0125799	0.0	0.0159	5008	,	,		19554	0.0446		0.0	False		,,,				2504	0.0072																0													1.0	1.0	1.0					2																	152436107		39	113	152	SO:0001627	intron_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11602-3239C>T	2.37:g.152436107G>A			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.S5483	ENST00000172853.10	37	c.16449		2																																																																																			NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.428	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0.00	34	0	G	NM_004543		152436107	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	17.86	23	5	SNP	0.061	A
NBEAL1	65065	genome.wustl.edu	37	2	204058577	204058577	+	Silent	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:204058577C>T	ENST00000449802.1	+	46	7227	c.6894C>T	c.(6892-6894)gaC>gaT	p.D2298D		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2298										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCAAAATAGACACTTCAACCC	0.343																																																	0													158.0	158.0	158.0					2																	204058577		1870	4097	5967	SO:0001819	synonymous_variant	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6894C>T	2.37:g.204058577C>T			A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D2298	ENST00000449802.1	37	c.6894	CCDS46495.1	2																																																																																			NBEAL1	-	NULL	ENSG00000144426		0.343	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	-	0.00	94	0	C			204058577	+1	tier1	-	no_errors	ENST00000449802	ensembl	human	known	74_37	silent	36.84	48	28	SNP	0.094	T
NFKBIZ	64332	genome.wustl.edu	37	3	101575938	101575938	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:101575938G>T	ENST00000326172.5	+	10	1961	c.1846G>T	c.(1846-1848)Gcc>Tcc	p.A616S	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.A494S|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.A516S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	616	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TGGCCGCACAGCCCTGCATTT	0.453																																																	0													119.0	136.0	130.0					3																	101575938		2203	4300	6503	SO:0001583	missense	0			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1846G>T	3.37:g.101575938G>T	ENSP00000325663:p.Ala616Ser		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A616S	ENST00000326172.5	37	c.1846	CCDS2946.1	3	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243389	0.79912	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.70986	-0.53;-0.53;-0.41;-0.41	5.98	5.98	0.97165	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.79997	0.4543	M	0.65320	2	0.46678	D	0.999154	P;P	0.49447	0.596;0.924	P;P	0.53689	0.472;0.732	T	0.79588	-0.1741	10	0.59425	D	0.04	-0.4597	20.452	0.99131	0.0:0.0:1.0:0.0	.	494;616	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	S	516;516;494;616	ENSP00000419800:A516S;ENSP00000377618:A516S;ENSP00000325593:A494S;ENSP00000325663:A616S	ENSP00000325593:A494S	A	+	1	0	NFKBIZ	103058628	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.004000	0.70709	2.838000	0.97847	0.591000	0.81541	GCC	NFKBIZ	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000144802		0.453	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFKBIZ	HGNC	protein_coding	OTTHUMT00000353793.1		0.00	59	0	G	NM_031419		101575938	+1			no_errors	ENST00000326172	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T
NIPBL	25836	genome.wustl.edu	37	5	37045679	37045679	+	Missense_Mutation	SNP	G	G	T	rs147054690	byFrequency	TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:37045679G>T	ENST00000282516.8	+	37	6977	c.6478G>T	c.(6478-6480)Gat>Tat	p.D2160Y	NIPBL_ENST00000448238.2_Missense_Mutation_p.D2160Y	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2160					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGATCTGGAAGATTTTAAAGG	0.388																																																	0								G	TYR/ASP,TYR/ASP	2,4404	4.2+/-10.8	0,2,2201	188.0	192.0	191.0		6478,6478	5.5	1.0	5	dbSNP_134	191	0,8600		0,0,4300	no	missense,missense	NIPBL	NM_015384.4,NM_133433.3	160,160	0,2,6501	TT,TG,GG		0.0,0.0454,0.0154	benign,benign	2160/2698,2160/2805	37045679	2,13004	2203	4300	6503	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6478G>T	5.37:g.37045679G>T	ENSP00000282516:p.Asp2160Tyr		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D2160Y	ENST00000282516.8	37	c.6478	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682948	0.68157	4.54E-4	0.0	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93859	-3.3;-3.3	5.52	5.52	0.82312	Armadillo-type fold (1);	0.101382	0.64402	D	0.000003	D	0.92244	0.7540	L	0.42245	1.32	0.80722	D	1	P;P	0.44380	0.744;0.834	B;B	0.43889	0.252;0.435	D	0.92663	0.6143	10	0.62326	D	0.03	-13.631	19.7999	0.96502	0.0:0.0:1.0:0.0	.	2160;2160	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	Y	2160	ENSP00000282516:D2160Y;ENSP00000406266:D2160Y	ENSP00000282516:D2160Y	D	+	1	0	NIPBL	37081436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.550000	0.82173	2.753000	0.94483	0.557000	0.71058	GAT	NIPBL	-	superfamily_ARM-type_fold	ENSG00000164190		0.388	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	-	0.00	134	0	G	NM_015384		37045679	+1	tier1	rs147054690	no_errors	ENST00000282516	ensembl	human	known	74_37	missense	5.56	85	5	SNP	1.000	T
NKX2-5	1482	genome.wustl.edu	37	5	172661786	172661786	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:172661786C>T	ENST00000329198.4	-	1	574	c.301G>A	c.(301-303)Gac>Aac	p.D101N	NKX2-5_ENST00000521848.1_Missense_Mutation_p.D101N|NKX2-5_ENST00000424406.2_Missense_Mutation_p.D101N	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	101	Ala/Pro-rich.				adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTGGCTGGGTCGGGGTCGCTG	0.657																																					Esophageal Squamous(72;810 1219 2387 13420 44943)												0													25.0	29.0	28.0					5																	172661786		2202	4300	6502	SO:0001583	missense	0			AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"""Homeoboxes / ANTP class : NKL subclass"""	2488	protein-coding gene	gene with protein product	"""tinman paralog (Drosophila)"""	600584	"""cardiac-specific homeo box"", ""NK2 transcription factor related, locus 5 (Drosophila)"""	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.301G>A	5.37:g.172661786C>T	ENSP00000327758:p.Asp101Asn		A8K3K0|B4DNB6|E9PBU6	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.D101N	ENST00000329198.4	37	c.301	CCDS4387.1	5	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723284	0.68959	.	.	ENSG00000183072	ENST00000329198;ENST00000424406;ENST00000521848;ENST00000517440	D;D;D;D	0.92545	-2.69;-2.93;-3.06;-3.03	5.01	5.01	0.66863	.	0.847687	0.10147	N	0.710138	D	0.93713	0.7991	L	0.50333	1.59	0.58432	D	0.999993	D;D;P	0.67145	0.996;0.969;0.649	P;P;B	0.57009	0.811;0.564;0.112	D	0.89551	0.3799	10	0.18276	T	0.48	.	18.6833	0.91554	0.0:1.0:0.0:0.0	.	101;101;101	B4DNB6;E5RH49;P52952	.;.;NKX25_HUMAN	N	101	ENSP00000327758:D101N;ENSP00000395378:D101N;ENSP00000427906:D101N;ENSP00000429905:D101N	ENSP00000327758:D101N	D	-	1	0	NKX2-5	172594392	1.000000	0.71417	0.884000	0.34674	0.121000	0.20230	3.974000	0.56852	2.478000	0.83669	0.462000	0.41574	GAC	NKX2-5	-	NULL	ENSG00000183072		0.657	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-5	HGNC	protein_coding	OTTHUMT00000252942.2	-	0.00	91	0	C			172661786	-1	tier1	-	no_errors	ENST00000329198	ensembl	human	known	74_37	missense	26.74	63	23	SNP	1.000	T
NLRP4	147945	genome.wustl.edu	37	19	56369442	56369442	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:56369442T>G	ENST00000301295.6	+	3	1105	c.683T>G	c.(682-684)tTc>tGc	p.F228C	NLRP4_ENST00000346986.5_Missense_Mutation_p.F228C|NLRP4_ENST00000587891.1_Missense_Mutation_p.F153C	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	228	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGACTCTTGTTCGTCATCGAC	0.557																																																	0													80.0	80.0	80.0					19																	56369442		2203	4300	6503	SO:0001583	missense	0			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.683T>G	19.37:g.56369442T>G	ENSP00000301295:p.Phe228Cys		Q86W87|Q96AY6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.F228C	ENST00000301295.6	37	c.683	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	T	14.21	2.468012	0.43839	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.81821	-1.54;-1.54	4.1	4.1	0.47936	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.90356	0.6982	M	0.89534	3.04	0.37705	D	0.92434	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.92983	0.6408	9	0.87932	D	0	.	11.3715	0.49702	0.0:0.0:0.0:1.0	.	228;153;228	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	C	228	ENSP00000301295:F228C;ENSP00000344787:F228C	ENSP00000301295:F228C	F	+	2	0	NLRP4	61061254	1.000000	0.71417	0.187000	0.23214	0.150000	0.21749	5.690000	0.68241	1.847000	0.53656	0.533000	0.62120	TTC	NLRP4	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase	ENSG00000160505		0.557	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	-	0.00	68	0	T	NM_134444		56369442	+1	tier1	-	no_errors	ENST00000301295	ensembl	human	known	74_37	missense	32.86	47	23	SNP	0.897	G
NPHP3	27031	genome.wustl.edu	37	3	132432010	132432010	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:132432010delT	ENST00000337331.5	-	6	1164	c.1078delA	c.(1078-1080)agtfs	p.S361fs	NPHP3_ENST00000476742.1_5'UTR|NPHP3_ENST00000326682.8_Frame_Shift_Del_p.S361fs	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	361					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACTAAAGAACTTTTCTCAATT	0.279																																																	0													36.0	38.0	37.0					3																	132432010		2197	4274	6471	SO:0001589	frameshift_variant	0			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1078delA	3.37:g.132432010delT	ENSP00000338766:p.Ser361fs		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Frame_Shift_Del	DEL	pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S360fs	ENST00000337331.5	37	c.1078	CCDS3078.1	3																																																																																			NPHP3	-	superfamily_P-loop_NTPase	ENSG00000113971		0.279	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHP3	HGNC	protein_coding	OTTHUMT00000357020.2		0.00	157	0	T	NM_153240		132432010	-1	tier1		no_errors	ENST00000337331	ensembl	human	known	74_37	frame_shift_del	36.73	93	54	DEL	1.000	-
NPHP4	261734	genome.wustl.edu	37	1	5925321	5925321	+	Silent	SNP	C	C	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:5925321C>A	ENST00000378156.4	-	27	3922	c.3657G>T	c.(3655-3657)ctG>ctT	p.L1219L	MIR4689_ENST00000582517.1_RNA|NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1219					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGTGTCGCCAGCCAGCGAT	0.667																																																	0													20.0	28.0	25.0					1																	5925321		2144	4247	6391	SO:0001819	synonymous_variant	0			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3657G>T	1.37:g.5925321C>A			Q8IWC0	Silent	SNP	NULL	p.L1219	ENST00000378156.4	37	c.3657	CCDS44052.1	1																																																																																			NPHP4	-	NULL	ENSG00000131697		0.667	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	HGNC	protein_coding	OTTHUMT00000001715.2	-	0.00	74	0	C			5925321	-1	tier1	-	no_errors	ENST00000378156	ensembl	human	known	74_37	silent	36.00	48	27	SNP	1.000	A
NRK	203447	genome.wustl.edu	37	X	105183880	105183880	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chrX:105183880C>G	ENST00000243300.9	+	23	4117	c.3814C>G	c.(3814-3816)Ctt>Gtt	p.L1272V	NRK_ENST00000428173.2_Missense_Mutation_p.L1273V	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1272	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TAAGAACAGACTTCGGGTGTA	0.323										HNSCC(51;0.14)																																							0													43.0	37.0	39.0					X																	105183880		1805	4059	5864	SO:0001583	missense	0			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3814C>G	X.37:g.105183880C>G	ENSP00000434830:p.Leu1272Val		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.L1273V	ENST00000243300.9	37	c.3817		X	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104065	0.56291	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.14391	2.51;2.51	5.78	4.92	0.64577	Citron-like (2);	0.000000	0.42053	D	0.000775	T	0.22244	0.0536	L	0.31752	0.955	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.958;0.998	T	0.00901	-1.1521	10	0.40728	T	0.16	.	9.1213	0.36788	0.0:0.8396:0.0:0.1604	.	940;1272	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	V	1272;1273	ENSP00000434830:L1272V;ENSP00000438378:L1273V	ENSP00000434830:L1272V	L	+	1	0	NRK	105070536	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.882000	0.48546	2.433000	0.82419	0.544000	0.68410	CTT	NRK	-	pfam_Citron,smart_Citron	ENSG00000123572		0.323	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	-	0.00	32	0	C	NM_198465		105183880	+1	tier1	-	no_errors	ENST00000428173	ensembl	human	known	74_37	missense	51.72	14	15	SNP	1.000	G
NTNG1	22854	genome.wustl.edu	37	1	108023343	108023343	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:108023343C>T	ENST00000370068.1	+	8	2347	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	NTNG1_ENST00000370061.3_Missense_Mutation_p.R467W|NTNG1_ENST00000370070.2_Missense_Mutation_p.R422W|NTNG1_ENST00000370065.1_Missense_Mutation_p.R456W|NTNG1_ENST00000542803.1_Missense_Mutation_p.R501W|NTNG1_ENST00000370074.4_Missense_Mutation_p.R400W|NTNG1_ENST00000370066.1_Missense_Mutation_p.R442W|NTNG1_ENST00000370071.2_Missense_Mutation_p.R442W|NTNG1_ENST00000370072.3_Missense_Mutation_p.R456W|NTNG1_ENST00000370067.1_Missense_Mutation_p.R422W|NTNG1_ENST00000370073.2_Missense_Mutation_p.R501W			Q9Y2I2	NTNG1_HUMAN	netrin G1	501					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CGAGAAGCTGCGGTGCGAGGA	0.706																																																	0													20.0	22.0	21.0					1																	108023343		2198	4299	6497	SO:0001583	missense	0			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1501C>T	1.37:g.108023343C>T	ENSP00000359085:p.Arg501Trp		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.R501W	ENST00000370068.1	37	c.1501	CCDS44180.1	1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033939	0.54896	.	.	ENSG00000162631	ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370064;ENST00000370062;ENST00000370074;ENST00000370068;ENST00000370067;ENST00000370066;ENST00000370065	T;D;T;T;T;D;D;T;D;D;T	0.91843	0.66;-2.92;0.61;0.0;-0.05;-2.92;-2.92;0.66;-2.92;-2.92;0.03	4.87	3.88	0.44766	.	0.463268	0.15950	N	0.236781	D	0.91074	0.7191	L	0.39245	1.2	0.24093	N	0.995903	D;D;D;D	0.76494	0.99;0.99;0.999;0.986	P;P;D;P	0.64687	0.852;0.777;0.928;0.625	D	0.84686	0.0720	10	0.87932	D	0	.	13.0872	0.59149	0.2921:0.7079:0.0:0.0	.	467;501;442;400	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-1	.;NTNG1_HUMAN;.;.	W	501;442;501;467;456;422;400;304;248;400;501;422;442;456	ENSP00000359090:R501W;ENSP00000359088:R442W;ENSP00000440561:R501W;ENSP00000359078:R467W;ENSP00000359089:R456W;ENSP00000359087:R422W;ENSP00000359091:R400W;ENSP00000359085:R501W;ENSP00000359084:R422W;ENSP00000359083:R442W;ENSP00000359082:R456W	ENSP00000359078:R467W	R	+	1	2	NTNG1	107824866	0.996000	0.38824	1.000000	0.80357	0.532000	0.34746	2.392000	0.44433	2.384000	0.81235	0.462000	0.41574	CGG	NTNG1	-	NULL	ENSG00000162631		0.706	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTNG1	HGNC	protein_coding	OTTHUMT00000030340.1	-	0.00	44	0	C	NM_014917		108023343	+1	tier1	-	no_errors	ENST00000370068	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.997	T
OR5AS1	219447	genome.wustl.edu	37	11	55798042	55798042	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:55798042A>G	ENST00000313555.1	+	1	148	c.148A>G	c.(148-150)Aat>Gat	p.N50D		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AATTCTAGTTAATATTAATTC	0.333																																																	0													51.0	56.0	54.0					11																	55798042		2201	4294	6495	SO:0001583	missense	0			AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.148A>G	11.37:g.55798042A>G	ENSP00000324111:p.Asn50Asp		Q6IFB8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N50D	ENST00000313555.1	37	c.148	CCDS31516.1	11	.	.	.	.	.	.	.	.	.	.	A	4.996	0.184936	0.09495	.	.	ENSG00000181785	ENST00000313555	T	0.01076	5.37	5.63	3.23	0.37069	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37178	U	0.002205	T	0.00845	0.0028	L	0.36672	1.1	0.09310	N	1	P	0.38922	0.651	B	0.29598	0.104	T	0.51957	-0.8639	10	0.36615	T	0.2	.	1.873	0.03212	0.4914:0.1479:0.0768:0.2839	.	50	Q8N127	O5AS1_HUMAN	D	50	ENSP00000324111:N50D	ENSP00000324111:N50D	N	+	1	0	OR5AS1	55554618	0.000000	0.05858	0.023000	0.16930	0.021000	0.10359	-0.703000	0.05063	0.364000	0.24374	-0.353000	0.07706	AAT	OR5AS1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181785		0.333	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AS1	HGNC	protein_coding	OTTHUMT00000391538.1	-	0.00	83	0	A	NM_001001921		55798042	+1	tier1	-	no_errors	ENST00000313555	ensembl	human	known	74_37	missense	33.33	50	25	SNP	0.002	G
OR6C65	403282	genome.wustl.edu	37	12	55794948	55794948	+	Silent	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr12:55794948G>T	ENST00000379665.2	+	1	735	c.636G>T	c.(634-636)gtG>gtT	p.V212V		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TGGCCTTGGTGGTTCTCTCCT	0.438																																																	0													215.0	208.0	210.0					12																	55794948		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.636G>T	12.37:g.55794948G>T			B2RNH9	Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.V212	ENST00000379665.2	37	c.636	CCDS31821.1	12																																																																																			OR6C65	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000205328		0.438	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C65	HGNC	protein_coding	OTTHUMT00000406674.1	-	0.00	95	0	G			55794948	+1	tier1	-	no_errors	ENST00000379665	ensembl	human	known	74_37	silent	16.00	63	12	SNP	0.011	T
OR7E94P	79273	genome.wustl.edu	37	4	80508948	80508948	+	RNA	SNP	G	G	A	rs571169123		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:80508948G>A	ENST00000601375.1	-	0	297									olfactory receptor, family 7, subfamily E, member 94 pseudogene																		CAGGCAGCCCGCATAAGAGAT	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		20574	0.001		0.0	False		,,,				2504	0.0																0																																												0			AC013662		4q21.21	2013-09-24			ENSG00000249646	ENSG00000249646		"""GPCR / Class A : Olfactory receptors"""	14789	pseudogene	pseudogene							Standard	NG_002221		Approved				OTTHUMG00000160914		4.37:g.80508948G>A				RNA	SNP	-	NULL	ENST00000601375.1	37	NULL		4																																																																																			OR7E94P	-	-	ENSG00000249646		0.418	OR7E94P-002	KNOWN	basic	processed_transcript	OR7E94P	HGNC	pseudogene	OTTHUMT00000464523.1	-	0.00	56	0	G			80508948	-1	tier1	-	no_errors	ENST00000601375	ensembl	human	known	74_37	rna	27.27	32	12	SNP	0.003	A
OR8D2	283160	genome.wustl.edu	37	11	124189277	124189277	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:124189277C>G	ENST00000357438.2	-	1	907	c.817G>C	c.(817-819)Gtg>Ctg	p.V273L		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		ACAGAAGACACCTTCTCTTTT	0.423																																																	0													155.0	161.0	159.0					11																	124189277		2201	4299	6500	SO:0001583	missense	0			AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.817G>C	11.37:g.124189277C>G	ENSP00000350022:p.Val273Leu		B9EH49|Q6IFR0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V273L	ENST00000357438.2	37	c.817	CCDS31707.1	11	.	.	.	.	.	.	.	.	.	.	c	12.61	1.990255	0.35131	.	.	ENSG00000197263	ENST00000357438	T	0.00249	8.44	3.34	0.348	0.16026	GPCR, rhodopsin-like superfamily (1);	0.417730	0.17650	N	0.166705	T	0.00144	0.0004	L	0.31207	0.915	0.09310	N	1	P	0.38110	0.618	B	0.42138	0.377	T	0.35001	-0.9806	10	0.66056	D	0.02	.	4.8222	0.13396	0.0:0.4346:0.2945:0.2709	.	273	Q9GZM6	OR8D2_HUMAN	L	273	ENSP00000350022:V273L	ENSP00000350022:V273L	V	-	1	0	OR8D2	123694487	0.000000	0.05858	0.059000	0.19551	0.827000	0.46813	-2.723000	0.00810	0.105000	0.17753	0.530000	0.56133	GTG	OR8D2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000197263		0.423	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D2	HGNC	protein_coding	OTTHUMT00000387286.1	-	0.00	80	0	C	NM_001002918		124189277	-1	tier1	-	no_errors	ENST00000357438	ensembl	human	known	74_37	missense	41.18	49	35	SNP	0.000	G
OTOA	146183	genome.wustl.edu	37	16	21716574	21716574	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr16:21716574G>T	ENST00000286149.4	+	11	1108	c.1107G>T	c.(1105-1107)aaG>aaT	p.K369N	OTOA_ENST00000388958.3_Missense_Mutation_p.K355N|OTOA_ENST00000388956.4_Missense_Mutation_p.K276N|OTOA_ENST00000569064.1_3'UTR|OTOA_ENST00000388957.3_Missense_Mutation_p.K31N			Q7RTW8	OTOAN_HUMAN	otoancorin	369					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AGATGATCAAGTGCAGCCACC	0.567																																																	0													95.0	88.0	90.0					16																	21716574		2199	4300	6499	SO:0001583	missense	0			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1107G>T	16.37:g.21716574G>T	ENSP00000286149:p.Lys369Asn		A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	NULL	p.K369N	ENST00000286149.4	37	c.1107		16	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103493	0.56291	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	T;T;T;T	0.78707	2.63;-1.2;2.63;-1.2	5.3	-2.63	0.06133	.	0.056224	0.64402	D	0.000002	D	0.83317	0.5228	M	0.66939	2.045	0.39146	D	0.962136	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.995;0.999	T	0.80995	-0.1133	10	0.49607	T	0.09	-22.7856	12.2143	0.54398	0.4882:0.0:0.5118:0.0	.	369;276;31;355	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	N	355;369;276;31	ENSP00000373610:K355N;ENSP00000286149:K369N;ENSP00000373608:K276N;ENSP00000373609:K31N	ENSP00000286149:K369N	K	+	3	2	OTOA	21624075	0.988000	0.35896	0.929000	0.37066	0.908000	0.53690	0.125000	0.15749	-0.845000	0.04179	-2.069000	0.00389	AAG	OTOA	-	NULL	ENSG00000155719		0.567	OTOA-003	KNOWN	basic	protein_coding	OTOA	HGNC	protein_coding	OTTHUMT00000430021.1		0.00	43	0	G			21716574	+1			no_errors	ENST00000286149	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.947	T
PCDHA4	56144	genome.wustl.edu	37	5	140187662	140187662	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:140187662C>T	ENST00000530339.1	+	1	890	c.890C>T	c.(889-891)cCa>cTa	p.P297L	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.P297L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.P297L|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	297	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACATAGATCCAATTACTGGA	0.353																																																	0													73.0	79.0	77.0					5																	140187662		2203	4300	6503	SO:0001583	missense	0			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.890C>T	5.37:g.140187662C>T	ENSP00000435300:p.Pro297Leu		O75285|Q2M253	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P297L	ENST00000530339.1	37	c.890	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	c	8.395	0.840721	0.16891	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.55234	0.53;0.53;0.53	4.34	2.51	0.30379	Cadherin (4);Cadherin-like (1);	0.683693	0.11935	N	0.515338	T	0.54159	0.1841	M	0.84511	2.7	0.09310	N	1	B;B;B	0.18741	0.009;0.03;0.03	B;B;B	0.25884	0.029;0.064;0.044	T	0.55661	-0.8106	10	0.66056	D	0.02	.	3.8322	0.08879	0.274:0.5037:0.1382:0.0842	.	297;297;297	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	L	297	ENSP00000423470:P297L;ENSP00000349344:P297L;ENSP00000435300:P297L	ENSP00000349344:P297L	P	+	2	0	PCDHA4	140167846	0.000000	0.05858	0.016000	0.15963	0.969000	0.65631	-1.136000	0.03222	0.384000	0.24942	0.467000	0.42956	CCA	PCDHA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204967		0.353	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2	-	0.00	86	0	C	NM_018907		140187662	+1	tier1	-	no_errors	ENST00000530339	ensembl	human	known	74_37	missense	22.64	41	12	SNP	0.006	T
PDE4DIP	9659	genome.wustl.edu	37	1	144859760	144859760	+	Splice_Site	SNP	T	T	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:144859760T>G	ENST00000369354.3	-	38	6513	c.6324A>C	c.(6322-6324)caA>caC	p.Q2108H	PDE4DIP_ENST00000369359.4_Splice_Site_p.Q2244H|PDE4DIP_ENST00000369356.4_Splice_Site_p.Q2108H|PDE4DIP_ENST00000313382.9_Splice_Site_p.Q2002H|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Splice_Site_p.Q2193H|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2108					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTTCCTACCTTGGAGGAGCA	0.567			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													60.0	61.0	61.0					1																	144859760		2203	4298	6501	SO:0001630	splice_region_variant	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6325+1A>C	1.37:g.144859760T>G			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.Q2108H	ENST00000369354.3	37	c.6324	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.565452	0.45694	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01560	4.77;4.87;4.87;4.86;4.86	4.91	4.91	0.64330	.	.	.	.	.	T	0.02342	0.0072	L	0.52011	1.625	0.80722	D	1	D;P	0.54207	0.965;0.924	P;P	0.56474	0.799;0.459	T	0.65923	-0.6050	9	0.29301	T	0.29	.	12.7921	0.57539	0.0:0.0:0.0:1.0	.	2002;2108	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	H	2002;2108;2108;2193;2244	ENSP00000327209:Q2002H;ENSP00000358360:Q2108H;ENSP00000358363:Q2108H;ENSP00000435654:Q2193H;ENSP00000358366:Q2244H	ENSP00000327209:Q2002H	Q	-	3	2	PDE4DIP	143571117	1.000000	0.71417	0.997000	0.53966	0.052000	0.14988	2.058000	0.41374	1.974000	0.57490	0.528000	0.53228	CAA	PDE4DIP	-	NULL	ENSG00000178104		0.567	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	-	0.00	60	0	T	NM_022359	Missense_Mutation	144859760	-1	tier1	-	no_errors	ENST00000369356	ensembl	human	known	74_37	missense	10.00	45	5	SNP	1.000	G
GATB	5188	genome.wustl.edu	37	4	152601009	152601009	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:152601009C>A	ENST00000515812.1	-	10	1259	c.1243G>T	c.(1243-1245)Gac>Tac	p.D415Y	PET112_ENST00000263985.6_Missense_Mutation_p.D456Y|RP11-164P12.3_ENST00000514269.1_RNA|PET112_ENST00000507592.1_5'UTR																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						TCCAGCAGGTCAAGAAGCTCA	0.493																																																	0													183.0	182.0	182.0					4																	152601009		2203	4300	6503	SO:0001583	missense	0																														ENST00000515812.1:c.1243G>T	4.37:g.152601009C>A	ENSP00000426859:p.Asp415Tyr			Missense_Mutation	SNP	pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu	p.D456Y	ENST00000515812.1	37	c.1366		4	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604259	0.46423	.	.	ENSG00000059691	ENST00000263985;ENST00000515812	T;T	0.47177	0.86;0.85	5.69	0.199	0.15175	Asn/Gln amidotransferase (2);Aspartyl/glutamyl-tRNA amidotransferase subunit B-related (1);	0.552403	0.19777	N	0.106319	T	0.47451	0.1446	M	0.67569	2.06	0.41529	D	0.988446	P	0.43938	0.822	P	0.45377	0.478	T	0.46898	-0.9158	10	0.72032	D	0.01	-18.8672	8.683	0.34221	0.0:0.3116:0.0:0.6884	.	456	O75879	GATB_HUMAN	Y	456;415	ENSP00000263985:D456Y;ENSP00000426859:D415Y	ENSP00000263985:D456Y	D	-	1	0	PET112	152820459	0.233000	0.23772	0.545000	0.28153	0.577000	0.36160	0.357000	0.20199	-0.191000	0.10448	0.650000	0.86243	GAC	PET112	-	pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu	ENSG00000059691		0.493	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	PET112	HGNC	protein_coding	OTTHUMT00000365672.1	-	0.00	97	0	C			152601009	-1	tier1	-	no_errors	ENST00000263985	ensembl	human	known	74_37	missense	36.36	49	28	SNP	0.695	A
PHF2	5253	genome.wustl.edu	37	9	96420446	96420446	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr9:96420446G>T	ENST00000359246.4	+	10	1534	c.1167G>T	c.(1165-1167)aaG>aaT	p.K389N	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	389					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AATCTGGGAAGCAGCTGCCCC	0.562																																																	0													54.0	51.0	52.0					9																	96420446		2203	4300	6503	SO:0001583	missense	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1167G>T	9.37:g.96420446G>T	ENSP00000352185:p.Lys389Asn		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.K389N	ENST00000359246.4	37	c.1167	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255479	0.22965	.	.	ENSG00000197724	ENST00000359246	T	0.41758	0.99	4.51	0.479	0.16796	.	0.270092	0.40640	N	0.001060	T	0.33614	0.0869	L	0.54323	1.7	0.80722	D	1	B	0.21821	0.061	B	0.09377	0.004	T	0.10337	-1.0634	10	0.46703	T	0.11	-8.0773	9.3826	0.38322	0.4072:0.0:0.5928:0.0	.	389	O75151	PHF2_HUMAN	N	389	ENSP00000352185:K389N	ENSP00000352185:K389N	K	+	3	2	PHF2	95460267	1.000000	0.71417	0.995000	0.50966	0.621000	0.37620	1.634000	0.37123	-0.098000	0.12285	-0.339000	0.08088	AAG	PHF2	-	NULL	ENSG00000197724		0.562	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1		0.00	71	0	G	NM_005392		96420446	+1			no_errors	ENST00000359246	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.997	T
PIDD1	55367	genome.wustl.edu	37	11	801462	801462	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:801462G>C	ENST00000347755.5	-	8	1606	c.1465C>G	c.(1465-1467)Cgt>Ggt	p.R489G	PIDD_ENST00000411829.2_Missense_Mutation_p.R489G|PIDD_ENST00000534649.1_5'Flank	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					GAGACTCGACGAGGCTCCTCA	0.672																																																	0													22.0	23.0	23.0					11																	801462		2184	4292	6476	SO:0001583	missense	0																														ENST00000347755.5:c.1465C>G	11.37:g.801462G>C	ENSP00000337797:p.Arg489Gly			Missense_Mutation	SNP	pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5	p.R489G	ENST00000347755.5	37	c.1465	CCDS7716.1	11	.	.	.	.	.	.	.	.	.	.	g	13.79	2.342481	0.41498	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.45276	0.9;0.9	4.06	1.14	0.20703	ZU5 (2);	0.087928	0.47852	U	0.000211	T	0.43255	0.1239	L	0.34521	1.04	0.36137	D	0.846505	D;D;P;D	0.64830	0.978;0.994;0.946;0.991	P;D;P;P	0.63793	0.772;0.918;0.601;0.873	T	0.48927	-0.8991	10	0.66056	D	0.02	.	4.9608	0.14065	0.2451:0.0:0.6077:0.1472	.	176;489;343;489	Q9HB75-5;Q9HB75;Q9HB75-3;Q9HB75-2	.;PIDD_HUMAN;.;.	G	489	ENSP00000416801:R489G;ENSP00000337797:R489G	ENSP00000337797:R489G	R	-	1	0	PIDD	791462	0.996000	0.38824	0.006000	0.13384	0.496000	0.33645	4.182000	0.58310	0.064000	0.16427	0.457000	0.33378	CGT	PIDD	-	pfam_ZU5,pfscan_ZU5	ENSG00000177595		0.672	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIDD	HGNC	protein_coding	OTTHUMT00000257103.1	-	0.00	59	0	G			801462	-1	tier1	-	no_errors	ENST00000347755	ensembl	human	known	74_37	missense	23.08	40	12	SNP	0.950	C
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047L	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0.00	53	0	A			178952085	+1	tier1	rs121913279	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	23.40	36	11	SNP	1.000	T
PIP5K1A	8394	genome.wustl.edu	37	1	151219428	151219428	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:151219428C>T	ENST00000368888.4	+	15	2095	c.1673C>T	c.(1672-1674)tCa>tTa	p.S558L	PIP5K1A_ENST00000409426.1_Missense_Mutation_p.S546L|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.S518L|PIP5K1A_ENST00000414290.2_Nonsense_Mutation_p.Q167*|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.S496L	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	558					actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTTGCAGAGTCAGAGTTCACC	0.418																																					Pancreas(80;36 1443 2325 16095 21302)												0													169.0	159.0	163.0					1																	151219428		2203	4300	6503	SO:0001583	missense	0			U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.1673C>T	1.37:g.151219428C>T	ENSP00000357883:p.Ser558Leu		A8K4Q0|B4DIN0|Q99754|Q99756	Nonsense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.Q167*	ENST00000368888.4	37	c.499	CCDS44219.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.15|19.15	3.770827|3.770827	0.69992|0.69992	.|.	.|.	ENSG00000143398|ENSG00000143398	ENST00000414290|ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888	.|T;T;T;T;T	.|0.35789	.|1.66;1.66;1.38;1.29;1.66	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	.|44.810200	.|0.00664	.|U	.|0.000615	.|T	.|0.30479	.|0.0766	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.30281	.|0.0;0.275;0.0;0.275	.|B;B;B;B	.|0.36289	.|0.001;0.112;0.001;0.221	.|T	.|0.16808	.|-1.0390	.|10	0.05525|0.72032	T|D	0.97|0.01	.|.	13.2961|13.2961	0.60298|0.60298	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|518;496;558;545	.|Q99755-4;Q99755-2;Q99755;Q99755-3	.|.;.;PI51A_HUMAN;.	X|L	167|545;546;518;496;558	.|ENSP00000271663:S545L;ENSP00000386432:S546L;ENSP00000415648:S518L;ENSP00000357885:S496L;ENSP00000357883:S558L	ENSP00000388800:Q167X|ENSP00000271663:S545L	Q|S	+|+	1|2	0|0	PIP5K1A|PIP5K1A	149486052|149486052	0.985000|0.985000	0.35326|0.35326	0.870000|0.870000	0.34147|0.34147	0.993000|0.993000	0.82548|0.82548	1.235000|1.235000	0.32671|0.32671	2.505000|2.505000	0.84491|0.84491	0.563000|0.563000	0.77884|0.77884	CAG|TCA	PIP5K1A	-	NULL	ENSG00000143398		0.418	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	PIP5K1A	HGNC	protein_coding	OTTHUMT00000034425.2	-	0.00	59	0	C	NM_003557		151219428	+1	tier1	-	no_errors	ENST00000414290	ensembl	human	known	74_37	nonsense	41.07	33	23	SNP	0.994	T
PLCB1	23236	genome.wustl.edu	37	20	8707959	8707959	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr20:8707959G>C	ENST00000338037.6	+	17	1709	c.1682G>C	c.(1681-1683)aGa>aCa	p.R561T	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Missense_Mutation_p.R561T|PLCB1_ENST00000378637.2_Missense_Mutation_p.R561T	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	561	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AACTCAGAAAGAAATAAAAGT	0.318																																																	0													49.0	50.0	50.0					20																	8707959		2203	4299	6502	SO:0001583	missense	0			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1682G>C	20.37:g.8707959G>C	ENSP00000338185:p.Arg561Thr		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.R561T	ENST00000338037.6	37	c.1682	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366783	0.61513	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.66460	-0.21;-0.21;-0.21	5.86	5.86	0.93980	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.781535	0.12469	N	0.466208	T	0.70176	0.3194	L	0.27053	0.805	0.58432	D	0.999998	B;P	0.40970	0.005;0.734	B;P	0.50314	0.041;0.637	T	0.67906	-0.5549	10	0.49607	T	0.09	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	561;561	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	T	561;561;561;481;481	ENSP00000367908:R561T;ENSP00000338185:R561T;ENSP00000367904:R561T	ENSP00000338185:R561T	R	+	2	0	PLCB1	8655959	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.941000	0.49011	2.937000	0.99478	0.650000	0.86243	AGA	PLCB1	-	pirsf_PLC-beta,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y	ENSG00000182621		0.318	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	-	0.00	35	0	G			8707959	+1	tier1	-	no_errors	ENST00000338037	ensembl	human	known	74_37	missense	50.00	13	13	SNP	1.000	C
PLCE1	51196	genome.wustl.edu	37	10	95993828	95993828	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr10:95993828A>T	ENST00000371380.3	+	5	2208	c.1973A>T	c.(1972-1974)aAa>aTa	p.K658I	PLCE1_ENST00000260766.3_Missense_Mutation_p.K658I|PLCE1_ENST00000371385.3_Missense_Mutation_p.K350I|PLCE1_ENST00000371375.1_Missense_Mutation_p.K350I			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	658	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAAGTTTTAAAAATGTGGCAG	0.398																																																	0													63.0	61.0	62.0					10																	95993828		1897	4113	6010	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1973A>T	10.37:g.95993828A>T	ENSP00000360431:p.Lys658Ile		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.K658I	ENST00000371380.3	37	c.1973	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	A	26.8	4.772588	0.90108	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.77	5.77	0.91146	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.54323	1.7	0.48087	D	0.99958	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.57100	-0.7869	10	0.59425	D	0.04	.	16.3818	0.83467	1.0:0.0:0.0:0.0	.	658;350;658	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	I	658;658;350;350	ENSP00000260766:K658I;ENSP00000360431:K658I;ENSP00000360438:K350I;ENSP00000360426:K350I	ENSP00000260766:K658I	K	+	2	0	PLCE1	95983818	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.870000	0.92336	2.330000	0.79161	0.528000	0.53228	AAA	PLCE1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000138193		0.398	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	-	0.00	66	0	A	NM_016341		95993828	+1	tier1	-	no_errors	ENST00000260766	ensembl	human	known	74_37	missense	38.67	46	29	SNP	1.000	T
PLCG2	5336	genome.wustl.edu	37	16	81942086	81942086	+	Silent	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr16:81942086G>A	ENST00000359376.3	+	17	1837	c.1623G>A	c.(1621-1623)acG>acA	p.T541T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	541	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		T -> A (in dbSNP:rs11548657).		B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGAAGAGGACGAGTGCCGAGA	0.552																																																	0													77.0	80.0	79.0					16																	81942086		2004	4172	6176	SO:0001819	synonymous_variant	0				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1623G>A	16.37:g.81942086G>A			D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	p.T541	ENST00000359376.3	37	c.1623	CCDS42204.1	16																																																																																			PLCG2	-	pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_SH2,pirsf_PLC-gamma,pfscan_SH2	ENSG00000197943		0.552	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	HGNC	protein_coding	OTTHUMT00000432429.1	-	0.00	116	0	G			81942086	+1	tier1	-	no_errors	ENST00000359376	ensembl	human	known	74_37	silent	30.61	68	30	SNP	0.592	A
POLR2M	81488	genome.wustl.edu	37	15	57999364	57999364	+	Intron	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr15:57999364C>T	ENST00000299638.3	+	1	327				GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000380569.2_Intron|POLR2M_ENST00000464308.1_3'UTR|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000484300.1_Intron|GCOM1_ENST00000587652.1_Intron|POLR2M_ENST00000380557.4_Intron	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M						maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)										GAGGATAGCTCGGATTGAACG	0.587																																																	0													4.0	5.0	5.0					15																	57999364		1165	2128	3293	SO:0001627	intron_variant	0			AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"""RNA polymerase subunits"""	14862	protein-coding gene	gene with protein product		606485	"""glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"""	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	ENST00000299638.3:c.113+211C>T	15.37:g.57999364C>T			Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	RNA	SNP	-	NULL	ENST00000299638.3	37	NULL	CCDS32252.1	15																																																																																			POLR2M	-	-	ENSG00000255529		0.587	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2M	HGNC	protein_coding	OTTHUMT00000255719.2	-	0.00	50	0	C			57999364	+1	tier1	-	no_errors	ENST00000464308	ensembl	human	known	74_37	rna	20.51	31	8	SNP	0.000	T
POU4F2	5458	genome.wustl.edu	37	4	147561949	147561949	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:147561949G>T	ENST00000281321.3	+	2	1467	c.1219G>T	c.(1219-1221)Gcc>Tcc	p.A407S	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	407					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GAAATATTCCGCCGGCATTTA	0.512																																																	0													30.0	37.0	34.0					4																	147561949		2184	4293	6477	SO:0001583	missense	0			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.1219G>T	4.37:g.147561949G>T	ENSP00000281321:p.Ala407Ser		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.A407S	ENST00000281321.3	37	c.1219	CCDS34074.1	4	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909165	0.72868	.	.	ENSG00000151615	ENST00000281321	D	0.85411	-1.98	5.03	5.03	0.67393	Homeobox (1);	0.051311	0.85682	D	0.000000	D	0.86318	0.5904	N	0.14661	0.345	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.88917	0.3363	10	0.72032	D	0.01	.	18.55	0.91060	0.0:0.0:1.0:0.0	.	407	Q12837	PO4F2_HUMAN	S	407	ENSP00000281321:A407S	ENSP00000281321:A407S	A	+	1	0	POU4F2	147781399	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.597000	0.98273	2.630000	0.89119	0.561000	0.74099	GCC	POU4F2	-	smart_Homeobox_dom	ENSG00000151615		0.512	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F2	HGNC	protein_coding	OTTHUMT00000367020.1		0.00	24	0	G	NM_004575		147561949	+1			no_errors	ENST00000281321	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T
PRAMEF10	343071	genome.wustl.edu	37	1	12954550	12954550	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:12954550G>A	ENST00000235347.4	-	3	812	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	245					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TACAACTCACGCTCATAACCG	0.468																																																	0													183.0	132.0	148.0					1																	12954550		1963	4108	6071	SO:0001583	missense	0			AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.733C>T	1.37:g.12954550G>A	ENSP00000235347:p.Arg245Cys		Q2M1V2	Missense_Mutation	SNP	NULL	p.R245C	ENST00000235347.4	37	c.733	CCDS41255.1	1	.	.	.	.	.	.	.	.	.	.	.	1.547	-0.540318	0.04053	.	.	ENSG00000187545	ENST00000235347	T	0.15487	2.42	0.416	-0.832	0.10785	.	2.616790	0.01776	N	0.031493	T	0.05135	0.0137	N	0.00648	-1.295	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22382	-1.0218	9	0.38643	T	0.18	.	.	.	.	.	245	O60809	PRA10_HUMAN	C	245	ENSP00000235347:R245C	ENSP00000235347:R245C	R	-	1	0	PRAMEF10	12877137	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.948000	0.03897	-0.606000	0.05746	-1.188000	0.01700	CGT	PRAMEF10	-	NULL	ENSG00000187545		0.468	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF10	HGNC	protein_coding	OTTHUMT00000005512.2	-	0.00	303	0	G	XM_496342		12954550	-1	tier1	-	no_errors	ENST00000235347	ensembl	human	known	74_37	missense	38.58	163	103	SNP	0.001	A
PSD	5662	genome.wustl.edu	37	10	104168709	104168709	+	Intron	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr10:104168709G>A	ENST00000020673.5	-	11	2618				PSD_ENST00000406432.1_Intron	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing						neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TGTAGAGCACGGGCTTGAGGC	0.726																																																	0																																										SO:0001627	intron_variant	0			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2092-1686C>T	10.37:g.104168709G>A			B1AKX7|D3DR87|Q15673|Q8IVG0	RNA	SNP	-	NULL	ENST00000020673.5	37	NULL	CCDS31272.1	10																																																																																			PSD	-	-	ENSG00000059915		0.726	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	-	0.00	13	0	G			104168709	-1	tier1	-	no_errors	ENST00000461698	ensembl	human	known	74_37	rna	55.56	4	5	SNP	0.395	A
PSG6	5675	genome.wustl.edu	37	19	43411757	43411757	+	Missense_Mutation	SNP	C	C	T	rs148457672		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:43411757C>T	ENST00000292125.2	-	4	1000	c.956G>A	c.(955-957)cGc>cAc	p.R319H	PSG6_ENST00000187910.2_Missense_Mutation_p.R319H|PSG6_ENST00000402603.4_Intron	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	319	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TGGGTTACTGCGGATGCCACC	0.507																																																	0								C	HIS/ARG,HIS/ARG	2,4402		0,2,2200	152.0	136.0	141.0		956,956	0.3	0.0	19	dbSNP_134	141	0,8596		0,0,4298	no	missense,missense	PSG6	NM_001031850.2,NM_002782.3	29,29	0,2,6498	TT,TC,CC		0.0,0.0454,0.0154	,	319/425,319/436	43411757	2,12998	2202	4298	6500	SO:0001583	missense	0				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.956G>A	19.37:g.43411757C>T	ENSP00000292125:p.Arg319His		O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R319H	ENST00000292125.2	37	c.956	CCDS12613.1	19	.	.	.	.	.	.	.	.	.	.	N	6.644	0.487264	0.12641	4.54E-4	0.0	ENSG00000170848	ENST00000187910;ENST00000292125	T;T	0.12672	2.66;2.66	1.42	0.258	0.15578	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14399	0.0348	M	0.71920	2.185	0.09310	N	1	B;B	0.18166	0.026;0.009	B;B	0.22386	0.027;0.039	T	0.31364	-0.9946	9	0.42905	T	0.14	.	3.8173	0.08821	0.0:0.737:0.0:0.263	.	319;319	Q00889;Q00889-2	PSG6_HUMAN;.	H	319	ENSP00000187910:R319H;ENSP00000292125:R319H	ENSP00000187910:R319H	R	-	2	0	PSG6	48103597	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.659000	0.05323	-0.031000	0.13781	0.134000	0.15878	CGC	PSG6	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000170848		0.507	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG6	HGNC	protein_coding	OTTHUMT00000321436.1	-	0.00	289	0	C	NM_002782		43411757	-1	tier1	-	no_errors	ENST00000292125	ensembl	human	known	74_37	missense	31.25	198	90	SNP	0.001	T
PSMC3	5702	genome.wustl.edu	37	11	47444219	47444219	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:47444219C>A	ENST00000298852.3	-	8	947	c.790G>T	c.(790-792)Ggt>Tgt	p.G264C	PSMC3_ENST00000530912.1_Missense_Mutation_p.G222C|PSMC3_ENST00000602866.1_Missense_Mutation_p.G248C	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	264					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)|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)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|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)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AGCTTGGCACCATCTCCAATG	0.557																																																	0													83.0	76.0	78.0					11																	47444219		2201	4298	6499	SO:0001583	missense	0			M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.790G>T	11.37:g.47444219C>A	ENSP00000298852:p.Gly264Cys		B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.G264C	ENST00000298852.3	37	c.790	CCDS7935.1	11	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262454	0.59431	.	.	ENSG00000165916	ENST00000298852;ENST00000530912;ENST00000524447;ENST00000531051;ENST00000530887;ENST00000530651	D;D	0.93488	-3.23;-3.23	4.98	4.98	0.66077	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.050778	0.85682	D	0.000000	D	0.97648	0.9229	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98877	1.0768	10	0.87932	D	0	-19.3101	18.2683	0.90059	0.0:1.0:0.0:0.0	.	222;264	E9PM69;P17980	.;PRS6A_HUMAN	C	264;222;208;208;229;229	ENSP00000298852:G264C;ENSP00000433097:G222C	ENSP00000298852:G264C	G	-	1	0	PSMC3	47400795	1.000000	0.71417	0.816000	0.32577	0.020000	0.10135	7.813000	0.86123	2.314000	0.78098	0.561000	0.74099	GGT	PSMC3	-	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	ENSG00000165916		0.557	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMC3	HGNC	protein_coding	OTTHUMT00000395660.2	-	0.00	77	0	C	NM_002804		47444219	-1	tier1	-	no_errors	ENST00000298852	ensembl	human	known	74_37	missense	41.10	43	30	SNP	1.000	A
PXDNL	137902	genome.wustl.edu	37	8	52384761	52384761	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:52384761A>C	ENST00000356297.4	-	8	898	c.798T>G	c.(796-798)atT>atG	p.I266M	PXDNL_ENST00000543296.1_Missense_Mutation_p.I266M	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	266	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGTGTATCCAAATAATCTCAG	0.443																																																	0													172.0	168.0	169.0					8																	52384761		1892	4108	6000	SO:0001583	missense	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.798T>G	8.37:g.52384761A>C	ENSP00000348645:p.Ile266Met		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.I266M	ENST00000356297.4	37	c.798	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	A	10.33	1.319536	0.23994	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66638	-0.22;-0.22	3.98	0.145	0.14829	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67850	0.2937	L	0.28556	0.865	0.29369	N	0.864114	D	0.69078	0.997	D	0.72982	0.979	T	0.61811	-0.6986	9	0.72032	D	0.01	.	7.3916	0.26913	0.5141:0.0:0.4858:0.0	.	266	A1KZ92	PXDNL_HUMAN	M	266	ENSP00000348645:I266M;ENSP00000444865:I266M	ENSP00000348645:I266M	I	-	3	3	PXDNL	52547314	1.000000	0.71417	0.068000	0.19968	0.041000	0.13682	0.539000	0.23175	-0.244000	0.09639	0.477000	0.44152	ATT	PXDNL	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000147485		0.443	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	-	0.00	86	0	A	NM_144651		52384761	-1	tier1	-	no_errors	ENST00000356297	ensembl	human	known	74_37	missense	34.78	45	24	SNP	0.997	C
RABGAP1L	9910	genome.wustl.edu	37	1	174652677	174652677	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:174652677T>G	ENST00000251507.4	+	15	2016	c.1842T>G	c.(1840-1842)gaT>gaG	p.D614E		NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						CTGTGTATGATGAAGACATTG	0.398																																																	0													223.0	200.0	208.0					1																	174652677		2203	4300	6503	SO:0001583	missense	0			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1842T>G	1.37:g.174652677T>G	ENSP00000251507:p.Asp614Glu		B7ZAA4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.D614E	ENST00000251507.4	37	c.1842	CCDS1314.1	1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.935838	0.73442	.	.	ENSG00000152061	ENST00000251507;ENST00000367692	T	0.04706	3.57	5.42	2.94	0.34122	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.27384	0.0672	H	0.94886	3.595	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.08432	-1.0722	10	0.87932	D	0	.	10.6027	0.45375	0.0:0.0929:0.0:0.9071	.	614	Q5R372	RBG1L_HUMAN	E	614;626	ENSP00000251507:D614E	ENSP00000251507:D614E	D	+	3	2	RABGAP1L	172919300	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.999000	0.29757	0.355000	0.24131	0.533000	0.62120	GAT	RABGAP1L	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000152061		0.398	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1L	HGNC	protein_coding	OTTHUMT00000084497.1	-	0.00	105	0	T	NM_001243765		174652677	+1	tier1	-	no_errors	ENST00000251507	ensembl	human	known	74_37	missense	31.19	74	34	SNP	1.000	G
RAC1	5879	genome.wustl.edu	37	7	6426904	6426904	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:6426904A>T	ENST00000348035.4	+	2	310	c.97A>T	c.(97-99)Atc>Ttc	p.I33F	RAC1_ENST00000356142.4_Missense_Mutation_p.I33F|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	33					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	TGGAGAATATATCCCTACTGT	0.358																																																	0													108.0	107.0	107.0					7																	6426904		2203	4297	6500	SO:0001583	missense	0			AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.97A>T	7.37:g.6426904A>T	ENSP00000258737:p.Ile33Phe		O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I33F	ENST00000348035.4	37	c.97	CCDS5348.1	7	.	.	.	.	.	.	.	.	.	.	A	34	5.292269	0.95546	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	T;T	0.77750	-1.12;-1.12	6.06	6.06	0.98353	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87724	0.6249	M	0.81614	2.55	0.80722	D	1	P;P	0.51351	0.944;0.774	P;P	0.61533	0.89;0.848	D	0.89080	0.3475	10	0.87932	D	0	.	16.2827	0.82703	1.0:0.0:0.0:0.0	.	33;33	P63000;A4D2P0	RAC1_HUMAN;.	F	33	ENSP00000258737:I33F;ENSP00000348461:I33F	ENSP00000258737:I33F	I	+	1	0	RAC1	6393429	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	9.098000	0.94202	2.324000	0.78689	0.533000	0.62120	ATC	RAC1	-	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000136238		0.358	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAC1	HGNC	protein_coding	OTTHUMT00000242868.2	-	0.00	139	0	A	NM_018890		6426904	+1	tier1	-	no_errors	ENST00000356142	ensembl	human	known	74_37	missense	24.18	69	22	SNP	1.000	T
IFT22	64792	genome.wustl.edu	37	7	100958483	100958483	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:100958483A>G	ENST00000315322.4	-	5	583	c.490T>C	c.(490-492)Tat>Cat	p.Y164H	RABL5_ENST00000517481.1_Missense_Mutation_p.Y87H|RABL5_ENST00000498704.2_Missense_Mutation_p.Y87H|RABL5_ENST00000437644.2_Missense_Mutation_p.Y134H|RABL5_ENST00000495166.1_5'UTR	NM_022777.2	NP_073614.1	Q9H7X7	IFT22_HUMAN		164					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					CTTTTTAAATACTTTATGAAT	0.473											OREG0018221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													120.0	104.0	109.0					7																	100958483		2203	4300	6503	SO:0001583	missense	0																														ENST00000315322.4:c.490T>C	7.37:g.100958483A>G	ENSP00000320359:p.Tyr164His	1355	Q49AG1|Q69YV5|Q9BSW4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase	p.Y164H	ENST00000315322.4	37	c.490	CCDS5719.1	7	.	.	.	.	.	.	.	.	.	.	A	20.2	3.952181	0.73787	.	.	ENSG00000128581	ENST00000517481;ENST00000315322;ENST00000498704;ENST00000437644	T	0.50001	0.76	4.88	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.65037	0.2653	M	0.73962	2.25	0.46396	D	0.999027	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.969	T	0.66320	-0.5953	10	0.87932	D	0	-24.5576	9.1952	0.37224	0.8376:0.0:0.0:0.1624	.	134;164	Q9H7X7-2;Q9H7X7	.;RABL5_HUMAN	H	87;164;87;134	ENSP00000320359:Y164H	ENSP00000320359:Y164H	Y	-	1	0	RABL5	100745203	1.000000	0.71417	0.864000	0.33941	0.990000	0.78478	8.960000	0.93117	0.861000	0.35504	0.533000	0.62120	TAT	RABL5	-	NULL	ENSG00000128581		0.473	RABL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABL5	HGNC	protein_coding	OTTHUMT00000347565.1	-	0.00	85	0	A			100958483	-1	tier1	-	no_errors	ENST00000315322	ensembl	human	known	74_37	missense	25.26	71	24	SNP	1.000	G
RIN2	54453	genome.wustl.edu	37	20	19981627	19981627	+	3'UTR	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr20:19981627G>T	ENST00000255006.6	+	0	3031				RIN2_ENST00000440354.2_3'UTR|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2						endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GGAGCTGGAAGCCTTGCCTTC	0.557																																																	0													22.0	23.0	23.0					20																	19981627		1964	4145	6109	SO:0001624	3_prime_UTR_variant	0			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.*47G>T	20.37:g.19981627G>T			Q00425|Q5TFT8|Q9BQL3|Q9H071	RNA	SNP	-	NULL	ENST00000255006.6	37	NULL	CCDS56182.1	20																																																																																			RIN2	-	-	ENSG00000132669		0.557	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN2	HGNC	protein_coding	OTTHUMT00000078212.1	-	0.00	40	0	G			19981627	+1	tier1	-	no_errors	ENST00000484638	ensembl	human	known	74_37	rna	10.53	34	4	SNP	0.001	T
RLF	6018	genome.wustl.edu	37	1	40702482	40702482	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:40702482C>T	ENST00000372771.4	+	8	2135	c.2108C>T	c.(2107-2109)gCc>gTc	p.A703V		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	703					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GATGAAAATGCCAAGCACTAC	0.383																																																	0													87.0	89.0	88.0					1																	40702482		2203	4300	6503	SO:0001583	missense	0				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.2108C>T	1.37:g.40702482C>T	ENSP00000361857:p.Ala703Val		Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A703V	ENST00000372771.4	37	c.2108	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396343	0.42512	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.37058	1.22	5.97	5.97	0.96955	.	0.099063	0.64402	D	0.000001	T	0.48502	0.1503	L	0.50333	1.59	0.51233	D	0.999918	P;P	0.49185	0.92;0.615	P;B	0.51550	0.673;0.219	T	0.20806	-1.0264	10	0.41790	T	0.15	-6.5451	20.4388	0.99107	0.0:1.0:0.0:0.0	.	396;703	F5H2M5;Q13129	.;RLF_HUMAN	V	703;396	ENSP00000361857:A703V	ENSP00000361857:A703V	A	+	2	0	RLF	40475069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.393000	0.66279	2.836000	0.97738	0.655000	0.94253	GCC	RLF	-	NULL	ENSG00000117000		0.383	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	-	0.00	82	0	C	NM_012421		40702482	+1	tier1	-	no_errors	ENST00000372771	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
ROPN1L	83853	genome.wustl.edu	37	5	10442275	10442275	+	5'UTR	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:10442275G>T	ENST00000503804.1	+	0	517				ROPN1L-AS1_ENST00000513037.1_RNA|ROPN1L_ENST00000274134.4_5'UTR|ROPN1L_ENST00000510520.1_3'UTR			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like						epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CTTCTGCGGAGAGCGATGCCG	0.662																																																	0													53.0	52.0	52.0					5																	10442275		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF239723	CCDS3879.1	5p15	2011-01-20	2011-01-20		ENSG00000145491	ENSG00000145491			24060	protein-coding gene	gene with protein product	"""radial spoke head 11 homolog (Chlamydomonas)"""	611756	"""ropporin 1-like"""			11278869	Standard	NM_031916		Approved	ASP, FLJ25776, RSPH11	uc021xwo.1	Q96C74	OTTHUMG00000090507	ENST00000503804.1:c.-5G>T	5.37:g.10442275G>T			D3DTC9|Q9BZX0	RNA	SNP	-	NULL	ENST00000503804.1	37	NULL	CCDS3879.1	5																																																																																			ROPN1L	-	-	ENSG00000145491		0.662	ROPN1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ROPN1L	HGNC	protein_coding	OTTHUMT00000367033.1	-	0.00	62	0	G	NM_031916		10442275	+1	tier1	-	no_errors	ENST00000510520	ensembl	human	known	74_37	rna	6.78	55	4	SNP	0.002	T
RPL3	6122	genome.wustl.edu	37	22	39710147	39710147	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr22:39710147C>T	ENST00000216146.4	-	7	1089	c.916G>A	c.(916-918)Gac>Aac	p.D306N	SNORD83B_ENST00000386745.1_RNA|RPL3_ENST00000401609.1_Missense_Mutation_p.D254N|RPL3_ENST00000465618.1_5'UTR|SNORD83A_ENST00000386747.1_RNA	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	306					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	AGGTCATAGTCAGTGGAGGCA	0.498											OREG0026574	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													155.0	133.0	140.0					22																	39710147		2203	4300	6503	SO:0001583	missense	0			AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.916G>A	22.37:g.39710147C>T	ENSP00000346001:p.Asp306Asn	887	B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	pfam_Ribosomal_L3,superfamily_Transl_B-barrel	p.D306N	ENST00000216146.4	37	c.916	CCDS13988.1	22	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537561	0.65085	.	.	ENSG00000100316	ENST00000401609;ENST00000216146;ENST00000402527	T;T;T	0.31769	1.48;1.48;1.5	5.35	5.35	0.76521	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.045974	0.85682	D	0.000000	T	0.29817	0.0745	L	0.38733	1.17	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.15870	0.007;0.004;0.004;0.014	T	0.04017	-1.0984	10	0.51188	T	0.08	.	19.0675	0.93117	0.0:1.0:0.0:0.0	.	277;254;306;257	Q8TBW1;G5E9G0;P39023;B3KS36	.;.;RL3_HUMAN;.	N	254;306;254	ENSP00000386101:D254N;ENSP00000346001:D306N;ENSP00000385762:D254N	ENSP00000346001:D306N	D	-	1	0	RPL3	38040093	0.998000	0.40836	0.969000	0.41365	0.824000	0.46624	3.926000	0.56491	2.513000	0.84729	0.561000	0.74099	GAC	RPL3	-	pfam_Ribosomal_L3,superfamily_Transl_B-barrel	ENSG00000100316		0.498	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL3	HGNC	protein_coding	OTTHUMT00000321196.1	-	0.00	50	0	C	NM_000967		39710147	-1	tier1	-	no_errors	ENST00000216146	ensembl	human	known	74_37	missense	36.96	29	17	SNP	0.998	T
RPL8	6132	genome.wustl.edu	37	8	146015317	146015317	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:146015317G>A	ENST00000262584.3	-	6	878	c.646C>T	c.(646-648)Cac>Tac	p.H216Y	ZNF34_ENST00000429371.2_5'Flank|RPL8_ENST00000394920.2_Missense_Mutation_p.H216Y|RPL8_ENST00000527914.1_Missense_Mutation_p.H107Y|RPL8_ENST00000528957.1_Missense_Mutation_p.H216Y|RPL8_ENST00000529163.1_5'UTR|ZNF34_ENST00000343459.4_5'Flank	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	216					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		ATGTGCTGGTGGTTGCCACCT	0.647																																																	0													85.0	84.0	84.0					8																	146015317		2203	4300	6503	SO:0001583	missense	0			Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"""L ribosomal proteins"""	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.646C>T	8.37:g.146015317G>A	ENSP00000262584:p.His216Tyr		A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Missense_Mutation	SNP	pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Ribosomal_L2	p.H216Y	ENST00000262584.3	37	c.646	CCDS6433.1	8	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624907	0.87560	.	.	ENSG00000161016	ENST00000394920;ENST00000527914;ENST00000262584;ENST00000534813;ENST00000533397	D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08	4.94	4.94	0.65067	Translation protein SH3-like (1);Ribosomal protein L2, domain 3 (1);Ribosomal protein L2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97483	0.9176	H	0.98155	4.16	0.80722	D	1	D;B	0.55385	0.971;0.105	D;B	0.65140	0.932;0.202	D	0.98860	1.0762	10	0.87932	D	0	-2.3228	16.0872	0.81065	0.0:0.0:1.0:0.0	.	216;180	P62917;E9PIZ3	RL8_HUMAN;.	Y	216;107;216;180;195	ENSP00000378378:H216Y;ENSP00000436460:H107Y;ENSP00000262584:H216Y;ENSP00000435313:H195Y	ENSP00000262584:H216Y	H	-	1	0	RPL8	145986121	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.425000	0.90270	2.477000	0.83638	0.485000	0.47835	CAC	RPL8	-	pfam_Ribosomal_L2_C,superfamily_Translation_prot_SH3-like,pirsf_Ribosomal_L2	ENSG00000161016		0.647	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL8	HGNC	protein_coding	OTTHUMT00000382948.1	-	0.00	54	0	G	NM_000973		146015317	-1	tier1	-	no_errors	ENST00000262584	ensembl	human	known	74_37	missense	33.33	30	15	SNP	1.000	A
S1PR1	1901	genome.wustl.edu	37	1	101705189	101705189	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:101705189A>G	ENST00000305352.6	+	2	1024	c.649A>G	c.(649-651)Atc>Gtc	p.I217V		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	217					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TCTGCTCTCCATCGTCATTCT	0.567																																																	0													131.0	124.0	126.0					1																	101705189		2203	4300	6503	SO:0001583	missense	0			M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.649A>G	1.37:g.101705189A>G	ENSP00000305416:p.Ile217Val		D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG1_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.I217V	ENST00000305352.6	37	c.649	CCDS777.1	1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032853	0.75504	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.46451	0.87	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60011	0.2236	M	0.82923	2.615	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.68345	-0.5433	10	0.87932	D	0	.	15.2544	0.73573	1.0:0.0:0.0:0.0	.	217	P21453	S1PR1_HUMAN	V	217	ENSP00000305416:I217V	ENSP00000305416:I217V	I	+	1	0	S1PR1	101477777	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.339000	0.96797	2.000000	0.58554	0.369000	0.22263	ATC	S1PR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000170989		0.567	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR1	HGNC	protein_coding	OTTHUMT00000029908.1	-	0.00	20	0	A	NM_001400		101705189	+1	tier1	-	no_errors	ENST00000305352	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	G
SAMD4B	55095	genome.wustl.edu	37	19	39870719	39870719	+	Silent	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:39870719G>A	ENST00000314471.6	+	12	2679	c.1644G>A	c.(1642-1644)caG>caA	p.Q548Q	SAMD4B_ENST00000598913.1_Silent_p.Q548Q|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	548					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACCGGCAGCAGAAAGGGTAGG	0.572																																																	0													32.0	28.0	30.0					19																	39870719		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1644G>A	19.37:g.39870719G>A			A5Z0M6|Q6P194	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.Q548	ENST00000314471.6	37	c.1644	CCDS33020.1	19																																																																																			SAMD4B	-	NULL	ENSG00000179134		0.572	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4B	HGNC	protein_coding	OTTHUMT00000464467.1	-	0.00	90	0	G	NM_018028		39870719	+1	tier1	-	no_errors	ENST00000314471	ensembl	human	known	74_37	silent	38.71	38	24	SNP	1.000	A
SCUBE2	57758	genome.wustl.edu	37	11	9113009	9113011	+	In_Frame_Del	DEL	GCA	GCA	-	rs142900716|rs59844091		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	GCA	GCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:9113009_9113011delGCA	ENST00000309263.3	-	1	137_139	c.65_67delTGC	c.(64-69)ctgccg>ccg	p.L22del	MIR5691_ENST00000579525.1_RNA|SCUBE2_ENST00000520467.1_In_Frame_Del_p.L22del|SCUBE2_ENST00000450649.2_In_Frame_Del_p.L22del|SCUBE2_ENST00000534295.1_Intron|SCUBE2_ENST00000457346.2_In_Frame_Del_p.L22del			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	22						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		agcagtggcggcagcagcagcag	0.788																																																	0									,	125,51		61,3,24					,		0.2		dbSNP_134	1	181,401		88,5,198	no	coding,coding	SCUBE2	NM_020974.2,NM_001170690.1	,	149,8,222	A1A1,A1R,RR		31.0997,28.9773,40.3694	,	,		306,452				SO:0001651	inframe_deletion	0			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.65_67delTGC	11.37:g.9113018_9113020delGCA	ENSP00000310658:p.Leu22del		Q2NKQ8|Q6ZWI1	In_Frame_Del	DEL	pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.L22in_frame_del	ENST00000309263.3	37	c.67_65		11																																																																																			SCUBE2	-	NULL	ENSG00000175356		0.788	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	HGNC	protein_coding	OTTHUMT00000385812.2		0.00	10	0	GCA	NM_020974		9113011	-1	tier1		no_errors	ENST00000457346	ensembl	human	known	74_37	in_frame_del	37.50	5	3	DEL	0.986:0.983:0.981	-
SF3A2	8175	genome.wustl.edu	37	19	2243467	2243469	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:2243467_2243469delCCT	ENST00000221494.5	+	2	468_470	c.50_52delCCT	c.(49-54)gcctcc>gcc	p.S20del		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	20					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGCGTGGCCTCCTCCTCCGA	0.67																																																	0																																										SO:0001651	inframe_deletion	0			L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"""splicing factor 3a, subunit 2, 66kD"""			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.50_52delCCT	19.37:g.2243473_2243475delCCT	ENSP00000221494:p.Ser20del		B2RBU1|D6W605|O75245	In_Frame_Del	DEL	smart_Znf_U1,pfscan_Znf_C2H2_matrin	p.S20in_frame_del	ENST00000221494.5	37	c.50_52	CCDS12084.1	19																																																																																			SF3A2	-	NULL	ENSG00000104897		0.670	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A2	HGNC	protein_coding	OTTHUMT00000451268.3		0.00	66	0	CCT			2243469	+1	tier1		no_errors	ENST00000221494	ensembl	human	known	74_37	in_frame_del	30.00	49	21	DEL	1.000:0.996:1.000	-
SHROOM3	57619	genome.wustl.edu	37	4	77357289	77357289	+	Silent	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:77357289G>T	ENST00000296043.6	+	1	1037	c.84G>T	c.(82-84)ctG>ctT	p.L28L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	28	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACATTTATCTGGAGGCATTCC	0.488																																																	0													203.0	201.0	201.0					4																	77357289		2203	4300	6503	SO:0001819	synonymous_variant	0			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.84G>T	4.37:g.77357289G>T			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L28	ENST00000296043.6	37	c.84	CCDS3579.2	4																																																																																			SHROOM3	-	superfamily_PDZ,pfscan_PDZ	ENSG00000138771		0.488	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	-	0.00	55	0	G	NM_020859		77357289	+1	tier1	-	no_errors	ENST00000296043	ensembl	human	known	74_37	silent	6.35	59	4	SNP	1.000	T
SLC15A2	6565	genome.wustl.edu	37	3	121616250	121616250	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:121616250A>G	ENST00000489711.1	+	3	597	c.209A>G	c.(208-210)tAt>tGt	p.Y70C	SLC15A2_ENST00000295605.2_Missense_Mutation_p.Y70C	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	70					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CTGATCCTGTATTTCCTGTAT	0.413																																																	0													124.0	123.0	123.0					3																	121616250		2203	4300	6503	SO:0001583	missense	0			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.209A>G	3.37:g.121616250A>G	ENSP00000417085:p.Tyr70Cys		A8K1A5|B4E2A7	Missense_Mutation	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.Y70C	ENST00000489711.1	37	c.209	CCDS3007.1	3	.	.	.	.	.	.	.	.	.	.	A	22.0	4.231615	0.79688	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605;ENST00000469013	T;T;T	0.59906	0.23;0.23;0.25	5.75	5.75	0.90469	Major facilitator superfamily domain, general substrate transporter (1);	0.128895	0.53938	D	0.000042	D	0.82669	0.5087	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.87702	0.2561	10	0.87932	D	0	-10.9609	14.0184	0.64539	1.0:0.0:0.0:0.0	.	70;70	B4E2A7;Q16348	.;S15A2_HUMAN	C	70;63;70;8	ENSP00000417085:Y70C;ENSP00000295605:Y70C;ENSP00000418704:Y8C	ENSP00000295605:Y70C	Y	+	2	0	SLC15A2	123098940	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.817000	0.91985	2.201000	0.70794	0.533000	0.62120	TAT	SLC15A2	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	ENSG00000163406		0.413	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A2	HGNC	protein_coding	OTTHUMT00000355239.1	-	0.00	46	0	A	NM_021082		121616250	+1	tier1	-	no_errors	ENST00000489711	ensembl	human	known	74_37	missense	42.22	26	19	SNP	1.000	G
SLC16A8	23539	genome.wustl.edu	37	22	38478026	38478026	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr22:38478026G>T	ENST00000320521.5	-	3	336	c.228C>A	c.(226-228)agC>agA	p.S76R	SLC16A8_ENST00000469516.1_Intron	NM_013356.2	NP_037488.2	O95907	MOT3_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 8	76					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|lactate transmembrane transport (GO:0035873)|lactate transport (GO:0015727)|leukocyte migration (GO:0050900)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			kidney(1)|large_intestine(1)|prostate(1)	3	Melanoma(58;0.045)				Pyruvic acid(DB00119)	TCACGAGGATGCTGGACACGG	0.662																																																	0													18.0	21.0	20.0					22																	38478026		2185	4285	6470	SO:0001583	missense	0			AF132610	CCDS13966.1	22q12.3-q13.2	2013-07-18	2013-07-18		ENSG00000100156	ENSG00000100156		"""Solute carriers"""	16270	protein-coding gene	gene with protein product	"""monocarboxylate transporter 3"""	610409	"""solute carrier 16 (monocarboxylic acid transporters), member 8"""			10493836	Standard	NM_013356		Approved	MCT3, REMP	uc003auu.3	O95907	OTTHUMG00000151196	ENST00000320521.5:c.228C>A	22.37:g.38478026G>T	ENSP00000321735:p.Ser76Arg		Q9UBE2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.S76R	ENST00000320521.5	37	c.228	CCDS13966.1	22	.	.	.	.	.	.	.	.	.	.	G	20.5	4.009357	0.75046	.	.	ENSG00000100156	ENST00000320521;ENST00000427592	T;T	0.59502	0.31;0.26	4.02	2.97	0.34412	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000001	T	0.79936	0.4532	H	0.94698	3.57	0.50039	D	0.999844	D	0.89917	1.0	D	0.87578	0.998	D	0.84089	0.0389	10	0.87932	D	0	.	10.4576	0.44559	0.1656:0.0:0.8344:0.0	.	76	O95907	MOT3_HUMAN	R	76	ENSP00000321735:S76R;ENSP00000409547:S76R	ENSP00000321735:S76R	S	-	3	2	SLC16A8	36807972	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.206000	0.42779	1.969000	0.57287	0.313000	0.20887	AGC	SLC16A8	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000100156		0.662	SLC16A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A8	HGNC	protein_coding	OTTHUMT00000321724.1	-	0.00	111	0	G	NM_013356		38478026	-1	tier1	-	no_errors	ENST00000320521	ensembl	human	known	74_37	missense	37.39	72	43	SNP	1.000	T
SLC22A11	55867	genome.wustl.edu	37	11	64329782	64329782	+	Silent	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:64329782G>T	ENST00000301891.4	+	4	1070	c.696G>T	c.(694-696)acG>acT	p.T232T	SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Silent_p.T232T|SLC22A11_ENST00000377581.3_Silent_p.T232T	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	232					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	TCACCATGACGGTGGTGGGAT	0.672																																																	0													68.0	67.0	67.0					11																	64329782		2201	4295	6496	SO:0001819	synonymous_variant	0			AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.696G>T	11.37:g.64329782G>T			A8K426|Q53GR2|Q6ZP72|Q8NBU4	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T232	ENST00000301891.4	37	c.696	CCDS8074.1	11																																																																																			SLC22A11	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000168065		0.672	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A11	HGNC	protein_coding	OTTHUMT00000104886.4		0.00	42	0	G	NM_018484		64329782	+1			no_errors	ENST00000301891	ensembl	human	known	74_37	silent	7.14	39	3	SNP	0.000	T
SLC6A12	6539	genome.wustl.edu	37	12	306029	306029	+	Silent	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr12:306029G>A	ENST00000428720.1	-	11	1838	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	SLC6A12_ENST00000359674.4_Silent_p.I365I|SLC6A12_ENST00000397296.2_Silent_p.I365I|SLC6A12_ENST00000538272.1_5'Flank|RP11-283I3.1_ENST00000544067.1_RNA|SLC6A12_ENST00000536824.1_Silent_p.I365I|SLC6A12_ENST00000424061.2_Silent_p.I365I	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	365					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TGGGGAAGGCGATGAAGGCCA	0.582																																																	0													98.0	89.0	92.0					12																	306029		2203	4300	6503	SO:0001819	synonymous_variant	0			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.1095C>T	12.37:g.306029G>A			A0AV52|B2R992|D3DUN8	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_betaine	p.I365	ENST00000428720.1	37	c.1095	CCDS8501.1	12																																																																																			SLC6A12	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000111181		0.582	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A12	HGNC	protein_coding	OTTHUMT00000206671.2	-	0.00	52	0	G	NM_003044		306029	-1	tier1	-	no_errors	ENST00000359674	ensembl	human	known	74_37	silent	51.79	27	29	SNP	0.851	A
SLC9A8	23315	genome.wustl.edu	37	20	48471998	48471998	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr20:48471998C>A	ENST00000361573.2	+	8	635	c.593C>A	c.(592-594)tCt>tAt	p.S198Y	SLC9A8_ENST00000417961.1_Missense_Mutation_p.S214Y|SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000539601.1_5'UTR			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	198					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TCCCTAATATCTGCTGTCGAT	0.448																																																	0													208.0	191.0	197.0					20																	48471998		2203	4300	6503	SO:0001583	missense	0			AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.593C>A	20.37:g.48471998C>A	ENSP00000354966:p.Ser198Tyr		B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.S214Y	ENST00000361573.2	37	c.641	CCDS13421.1	20	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692943	0.68271	.	.	ENSG00000197818	ENST00000417961;ENST00000361573	T;T	0.25085	1.82;1.82	5.24	5.24	0.73138	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82065	-0.0642	10	0.87932	D	0	.	19.2019	0.93714	0.0:1.0:0.0:0.0	.	198	Q9Y2E8	SL9A8_HUMAN	Y	214;198	ENSP00000416418:S214Y;ENSP00000354966:S198Y	ENSP00000354966:S198Y	S	+	2	0	SLC9A8	47905405	1.000000	0.71417	0.949000	0.38748	0.129000	0.20672	7.652000	0.83633	2.598000	0.87819	0.650000	0.86243	TCT	SLC9A8	-	pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger	ENSG00000197818		0.448	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A8	HGNC	protein_coding	OTTHUMT00000106483.3	-	0.00	115	0	C	XM_030524		48471998	+1	tier1	-	no_errors	ENST00000417961	ensembl	human	known	74_37	missense	34.00	66	34	SNP	1.000	A
SMARCA4	6597	genome.wustl.edu	37	19	11132513	11132513	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:11132513C>T	ENST00000429416.3	+	20	3010	c.2729C>T	c.(2728-2730)aCg>aTg	p.T910M	SMARCA4_ENST00000358026.2_Missense_Mutation_p.T910M|SMARCA4_ENST00000541122.2_Missense_Mutation_p.T910M|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T910M|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T910M|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T910M|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T910M	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	910	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.T910M(6)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGCTGCTGACGGGCACACCG	0.592			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	7	Substitution - Missense(6)|Unknown(1)	central_nervous_system(6)|lung(1)											88.0	68.0	75.0					19																	11132513		2203	4300	6503	SO:0001583	missense	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2729C>T	19.37:g.11132513C>T	ENSP00000395654:p.Thr910Met		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.T910M	ENST00000429416.3	37	c.2729	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061387	0.55432	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	4.51	4.51	0.55191	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	H	0.98507	4.25	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;0.998;0.998;0.996;0.994;1.0;0.998;0.998	D	0.98869	1.0765	10	0.87932	D	0	-34.7546	16.1519	0.81629	0.0:1.0:0.0:0.0	.	910;910;910;910;910;130;910;910	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	M	910;910;974;910;910;910;910;910	ENSP00000395654:T910M;ENSP00000350720:T910M;ENSP00000343896:T910M;ENSP00000445036:T910M;ENSP00000392837:T910M;ENSP00000397783:T910M;ENSP00000414727:T910M	ENSP00000343896:T910M	T	+	2	0	SMARCA4	10993513	1.000000	0.71417	0.968000	0.41197	0.009000	0.06853	7.651000	0.83577	2.348000	0.79779	0.655000	0.94253	ACG	SMARCA4	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000127616		0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	-	0.00	37	0	C	NM_003072		11132513	+1	tier1	-	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	37.93	36	22	SNP	0.999	T
SMIM8	57150	genome.wustl.edu	37	6	88049924	88049924	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:88049924G>T	ENST00000392863.1	+	4	315	c.226G>T	c.(226-228)Gac>Tac	p.D76Y	SMIM8_ENST00000608868.1_Missense_Mutation_p.D76Y|RP1-102H19.8_ENST00000448282.2_Intron|SMIM8_ENST00000608353.1_Missense_Mutation_p.D76Y|SMIM8_ENST00000229570.5_Missense_Mutation_p.D76Y|SMIM8_ENST00000608525.1_Intron	NM_001042493.1	NP_001035958.1	Q96KF7	SMIM8_HUMAN	small integral membrane protein 8	76						integral component of membrane (GO:0016021)											GAATAAAAAGGACCTCTATGA	0.393																																																	0													127.0	127.0	127.0					6																	88049924		2203	4300	6503	SO:0001583	missense	0			AL050201	CCDS34496.1, CCDS75493.1	6q15	2013-06-21	2012-11-20	2012-11-20	ENSG00000111850	ENSG00000111850			21401	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 162"""	C6orf162			Standard	NM_001287445		Approved	DKFZP586E1923, dJ102H19.2	uc003plq.1	Q96KF7	OTTHUMG00000015168	ENST00000392863.1:c.226G>T	6.37:g.88049924G>T	ENSP00000376603:p.Asp76Tyr		B2R4V6|E1P505|Q5TEZ3|Q6NSD2|Q8IZ10	Missense_Mutation	SNP	NULL	p.D76Y	ENST00000392863.1	37	c.226	CCDS34496.1	6	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186441	0.57909	.	.	ENSG00000111850	ENST00000392863;ENST00000229570	.	.	.	5.45	4.54	0.55810	.	0.251092	0.47852	D	0.000213	T	0.52581	0.1743	.	.	.	0.47905	D	0.999543	P	0.44260	0.83	P	0.49012	0.598	T	0.58797	-0.7573	8	0.56958	D	0.05	-2.1887	13.0929	0.59176	0.082:0.0:0.918:0.0	.	76	Q96KF7	CF162_HUMAN	Y	76	.	ENSP00000229570:D76Y	D	+	1	0	C6orf162	88106643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.781000	0.47750	1.351000	0.45789	0.655000	0.94253	GAC	SMIM8	-	NULL	ENSG00000111850		0.393	SMIM8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMIM8	HGNC	protein_coding	OTTHUMT00000472479.2		0.00	57	0	G	NM_020425		88049924	+1			no_errors	ENST00000229570	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T
SORCS3	22986	genome.wustl.edu	37	10	106907465	106907465	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr10:106907465G>A	ENST00000369701.3	+	9	1620	c.1393G>A	c.(1393-1395)Gac>Aac	p.D465N		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	465					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTACATCTCAGACACGCGTGG	0.458																																					NSCLC(116;1497 1690 7108 13108 14106)												0													263.0	209.0	227.0					10																	106907465		2203	4299	6502	SO:0001583	missense	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1393G>A	10.37:g.106907465G>A	ENSP00000358715:p.Asp465Asn		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.D465N	ENST00000369701.3	37	c.1393	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.427483	0.96131	.	.	ENSG00000156395	ENST00000369701	T	0.35973	1.28	5.42	5.42	0.78866	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.67722	-0.5597	10	0.72032	D	0.01	.	19.597	0.95544	0.0:0.0:1.0:0.0	.	465	Q9UPU3	SORC3_HUMAN	N	465	ENSP00000358715:D465N	ENSP00000358715:D465N	D	+	1	0	SORCS3	106897455	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.813000	0.99286	2.716000	0.92895	0.650000	0.86243	GAC	SORCS3	-	smart_VPS10	ENSG00000156395		0.458	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	-	0.00	142	0	G	NM_014978		106907465	+1	tier1	-	no_errors	ENST00000369701	ensembl	human	known	74_37	missense	35.96	73	41	SNP	1.000	A
SP100	6672	genome.wustl.edu	37	2	231334496	231334496	+	Intron	DEL	A	A	-	rs372197214		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:231334496delA	ENST00000264052.5	+	15	1700				SP100_ENST00000409341.1_Intron|SP100_ENST00000409112.1_Intron|SP100_ENST00000409897.1_Intron|SP100_ENST00000409824.1_Intron|SP100_ENST00000341950.4_Frame_Shift_Del_p.L450fs|SP100_ENST00000427101.2_Intron|SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen						cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCCCAAAGTTAAAAAAAAAAA	0.363																																																	0																																										SO:0001627	intron_variant	0			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1346-234A>-	2.37:g.231334496delA			B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Frame_Shift_Del	DEL	pfam_Sp100	p.K453fs	ENST00000264052.5	37	c.1350	CCDS2477.1	2																																																																																			SP100	-	NULL	ENSG00000067066		0.363	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2		0.00	45	0	A	NM_003113		231334496	+1	tier1		no_errors	ENST00000341950	ensembl	human	known	74_37	frame_shift_del	17.95	32	7	DEL	0.007	-
SP7	121340	genome.wustl.edu	37	12	53723184	53723184	+	Silent	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr12:53723184G>A	ENST00000536324.2	-	3	325	c.42C>T	c.(40-42)tcC>tcT	p.S14S	SP7_ENST00000537210.2_5'UTR|SP7_ENST00000303846.3_Silent_p.S14S	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	14					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						CCAGGGGACTGGAGCCATAGT	0.557																																																	0													41.0	43.0	42.0					12																	53723184		2118	4243	6361	SO:0001819	synonymous_variant	0			AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.42C>T	12.37:g.53723184G>A			B3KY26|Q3MJ72|Q7Z718	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S14	ENST00000536324.2	37	c.42	CCDS44897.1	12																																																																																			SP7	-	NULL	ENSG00000170374		0.557	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP7	HGNC	protein_coding	OTTHUMT00000406917.1	-	0.00	48	0	G			53723184	-1	tier1	-	no_errors	ENST00000303846	ensembl	human	known	74_37	silent	34.29	23	12	SNP	1.000	A
SPAG5	10615	genome.wustl.edu	37	17	26905265	26905265	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:26905265C>T	ENST00000321765.5	-	22	3732	c.3400G>A	c.(3400-3402)Gaa>Aaa	p.E1134K	ALDOC_ENST00000226253.4_5'Flank|ALDOC_ENST00000395321.2_5'Flank|ALDOC_ENST00000395319.3_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	1134					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ATGAGTTTTTCCTTCTCATTT	0.488																																																	0													117.0	98.0	104.0					17																	26905265		2203	4300	6503	SO:0001583	missense	0			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.3400G>A	17.37:g.26905265C>T	ENSP00000323300:p.Glu1134Lys		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.E1134K	ENST00000321765.5	37	c.3400	CCDS32594.1	17	.	.	.	.	.	.	.	.	.	.	c	6.447	0.450612	0.12223	.	.	ENSG00000076382	ENST00000321765	.	.	.	5.92	2.85	0.33270	.	0.896444	0.09566	N	0.784901	T	0.18002	0.0432	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.29027	-1.0025	9	0.18276	T	0.48	0.7641	7.2035	0.25895	0.0:0.6799:0.0:0.3201	.	1134	Q96R06	SPAG5_HUMAN	K	1134	.	ENSP00000323300:E1134K	E	-	1	0	SPAG5	23929392	0.000000	0.05858	0.985000	0.45067	0.994000	0.84299	0.140000	0.16056	0.837000	0.34925	0.651000	0.88453	GAA	SPAG5	-	NULL	ENSG00000076382		0.488	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	-	0.00	34	0	C	NM_006461		26905265	-1	tier1	-	no_errors	ENST00000321765	ensembl	human	known	74_37	missense	42.31	15	11	SNP	0.207	T
SPOP	8405	genome.wustl.edu	37	17	47699360	47699360	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:47699360C>T	ENST00000393328.2	-	4	513	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	SPOP_ENST00000393331.3_Missense_Mutation_p.E50K|SPOP_ENST00000504102.1_Missense_Mutation_p.E50K|SPOP_ENST00000503676.1_Missense_Mutation_p.E50K|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.E50K	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	50	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.E50K(3)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTAATGACTTCACCCATTTCC	0.348										Prostate(2;0.17)																																							3	Substitution - Missense(3)	endometrium(3)											69.0	64.0	66.0					17																	47699360		2203	4300	6503	SO:0001583	missense	0			AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.148G>A	17.37:g.47699360C>T	ENSP00000377001:p.Glu50Lys		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.E50K	ENST00000393328.2	37	c.148	CCDS11551.1	17	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649335	0.87958	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508;ENST00000510476	T;T;T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.34	5.34	0.76211	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.35414	1.06	0.80722	D	1	B	0.14805	0.011	B	0.17979	0.02	T	0.10268	-1.0637	10	0.15952	T	0.53	-1.7919	18.8261	0.92119	0.0:1.0:0.0:0.0	.	50	O43791	SPOP_HUMAN	K	50;50;50;50;50;3;50;50;50;50;50;50	ENSP00000377001:E50K;ENSP00000377004:E50K;ENSP00000240327:E50K;ENSP00000425905:E50K;ENSP00000420908:E50K;ENSP00000426986:E50K;ENSP00000420960:E50K;ENSP00000426262:E50K;ENSP00000424119:E50K;ENSP00000426537:E50K;ENSP00000425410:E50K	ENSP00000240327:E50K	E	-	1	0	SPOP	45054359	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.781000	0.95711	0.650000	0.86243	GAA	SPOP	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH	ENSG00000121067		0.348	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOP	HGNC	protein_coding	OTTHUMT00000365154.2	-	0.00	108	0	C	NM_003563		47699360	-1	tier1	-	no_errors	ENST00000347630	ensembl	human	known	74_37	missense	26.32	56	20	SNP	1.000	T
STON1	11037	genome.wustl.edu	37	2	48808503	48808503	+	Nonsense_Mutation	SNP	C	C	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:48808503C>G	ENST00000406226.1	+	3	926	c.731C>G	c.(730-732)tCa>tGa	p.S244*	STON1-GTF2A1L_ENST00000405008.1_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000309827.2_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000402114.2_Nonsense_Mutation_p.S244*|STON1_ENST00000404752.1_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000394754.1_Nonsense_Mutation_p.S244*|STON1_ENST00000309835.3_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000394751.3_Nonsense_Mutation_p.S244*	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	244					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AACCAAGACTCACTTAGAAGT	0.433																																																	0													90.0	81.0	84.0					2																	48808503		2203	4300	6503	SO:0001587	stop_gained	0			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.731C>G	2.37:g.48808503C>G	ENSP00000384615:p.Ser244*		A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Nonsense_Mutation	SNP	pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD	p.S244*	ENST00000406226.1	37	c.731	CCDS1841.1	2	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679128	0.68042	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	.	.	.	5.24	5.24	0.73138	.	2.796080	0.00857	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	15.0458	0.71827	0.1425:0.8575:0.0:0.0	.	.	.	.	X	244	.	ENSP00000310969:S244X	S	+	2	0	STON1-GTF2A1L;STON1	48662007	0.783000	0.28701	0.084000	0.20598	0.041000	0.13682	0.878000	0.28126	2.884000	0.98904	0.655000	0.94253	TCA	STON1-GTF2A1L	-	NULL	ENSG00000068781		0.433	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1-GTF2A1L	HGNC	protein_coding	OTTHUMT00000323848.2	-	0.00	78	0	C	NM_006873		48808503	+1	tier1	-	no_errors	ENST00000309827	ensembl	human	known	74_37	nonsense	38.60	34	22	SNP	0.108	G
SYCP2	10388	genome.wustl.edu	37	20	58441562	58441562	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr20:58441562C>T	ENST00000357552.3	-	40	4433	c.4208G>A	c.(4207-4209)aGt>aAt	p.S1403N	SYCP2_ENST00000371001.2_Missense_Mutation_p.S1403N			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1403					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AGAGTCCTGACTTTGATGATT	0.308																																																	0													82.0	85.0	84.0					20																	58441562		2203	4297	6500	SO:0001583	missense	0			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.4208G>A	20.37:g.58441562C>T	ENSP00000350162:p.Ser1403Asn		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	NULL	p.S1403N	ENST00000357552.3	37	c.4208	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	C	8.286	0.816637	0.16607	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.14022	2.54;2.54	5.3	3.0	0.34707	.	0.493168	0.20275	N	0.095593	T	0.07593	0.0191	N	0.14661	0.345	0.09310	N	1	B	0.25169	0.119	B	0.26416	0.069	T	0.29150	-1.0021	10	0.59425	D	0.04	-1.8232	4.9657	0.14089	0.6447:0.187:0.1683:0.0	.	1403	Q9BX26	SYCP2_HUMAN	N	1403;1403;89	ENSP00000360040:S1403N;ENSP00000350162:S1403N	ENSP00000350162:S1403N	S	-	2	0	SYCP2	57874957	0.951000	0.32395	0.428000	0.26697	0.344000	0.29017	2.593000	0.46180	0.398000	0.25338	-0.319000	0.08680	AGT	SYCP2	-	NULL	ENSG00000196074		0.308	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3	-	0.00	101	0	C	NM_014258		58441562	-1	tier1	-	no_errors	ENST00000357552	ensembl	human	known	74_37	missense	39.06	78	50	SNP	0.456	T
SYNM	23336	genome.wustl.edu	37	15	99671376	99671376	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr15:99671376G>A	ENST00000560674.1	+	4	2422	c.1953G>A	c.(1951-1953)atG>atA	p.M651I	SYNM_ENST00000336292.6_Missense_Mutation_p.M936I|SYNM_ENST00000328642.7_Missense_Mutation_p.M936I|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	937	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						ACACCTCCATGAAGGGCATCT	0.552																																					Pancreas(125;1071 1762 21750 40003 40381)												0													18.0	20.0	19.0					15																	99671376		1887	4109	5996	SO:0001583	missense	0			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.1953G>A	15.37:g.99671376G>A	ENSP00000453040:p.Met651Ile		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	pfam_IF	p.M936I	ENST00000560674.1	37	c.2808		15	.	.	.	.	.	.	.	.	.	.	G	3.937	-0.014954	0.07681	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	T;T	0.73152	-0.7;-0.72	5.76	-11.5	0.00074	.	.	.	.	.	T	0.35219	0.0924	.	.	.	0.09310	N	0.999997	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.09378	-1.0677	8	0.02654	T	1	.	6.6258	0.22828	0.2039:0.4892:0.2032:0.1037	.	937;936	O15061;C9JIE4	SYNEM_HUMAN;.	I	936	ENSP00000336775:M936I;ENSP00000330469:M936I	ENSP00000330469:M936I	M	+	3	0	SYNM	97488899	0.728000	0.28080	0.000000	0.03702	0.670000	0.39368	-0.126000	0.10563	-4.306000	0.00057	-1.053000	0.02334	ATG	SYNM	-	NULL	ENSG00000182253		0.552	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	SYNM	HGNC	protein_coding	OTTHUMT00000415698.2	-	0.00	39	0	G	NM_145728		99671376	+1	tier1	-	no_errors	ENST00000336292	ensembl	human	known	74_37	missense	44.90	27	22	SNP	0.000	A
TAF7	6879	genome.wustl.edu	37	5	140699108	140699108	+	Silent	SNP	T	T	C			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:140699108T>C	ENST00000313368.5	-	1	1222	c.504A>G	c.(502-504)cgA>cgG	p.R168R		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	168					DNA-templated transcription, initiation (GO:0006352)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of histone acetylation (GO:0035067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermine transport (GO:0000296)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	histone acetyltransferase binding (GO:0035035)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|vitamin D receptor binding (GO:0042809)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTCAGCAATCGTTTCACTT	0.408																																																	0													118.0	118.0	118.0					5																	140699108		2203	4300	6503	SO:0001819	synonymous_variant	0			AF349038	CCDS4259.1	5q31	2008-02-05	2002-08-29	2001-12-07	ENSG00000178913	ENSG00000178913			11541	protein-coding gene	gene with protein product		600573	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD"""	TAF2F		7824954	Standard	NM_005642		Approved	TAFII55	uc003ljg.3	Q15545	OTTHUMG00000129628	ENST00000313368.5:c.504A>G	5.37:g.140699108T>C			B2RBV9|Q13036	Silent	SNP	pfam_TAFII55_prot_cons_reg	p.R168	ENST00000313368.5	37	c.504	CCDS4259.1	5																																																																																			TAF7	-	pfam_TAFII55_prot_cons_reg	ENSG00000178913		0.408	TAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF7	HGNC	protein_coding	OTTHUMT00000251823.2	-	0.00	35	0	T	NM_005642		140699108	-1	tier1	-	no_errors	ENST00000313368	ensembl	human	known	74_37	silent	31.03	20	9	SNP	0.177	C
TANC2	26115	genome.wustl.edu	37	17	61497497	61497497	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:61497497C>T	ENST00000424789.2	+	25	4158	c.4154C>T	c.(4153-4155)cCg>cTg	p.P1385L	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.P1395L	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1385					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ccgccgccaccgcagcctcag	0.537																																																	0													27.0	33.0	31.0					17																	61497497		2186	4270	6456	SO:0001583	missense	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4154C>T	17.37:g.61497497C>T	ENSP00000387593:p.Pro1385Leu		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.P1385L	ENST00000424789.2	37	c.4154	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	C	1.076	-0.668393	0.03428	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.66638	-0.22;-0.21	5.58	0.56	0.17279	.	0.121482	0.56097	D	0.000028	T	0.43986	0.1272	N	0.08118	0	0.09310	N	1	B	0.17852	0.024	B	0.12156	0.007	T	0.18967	-1.0320	10	0.27082	T	0.32	.	14.6727	0.68956	0.391:0.609:0.0:0.0	.	1385	Q9HCD6	TANC2_HUMAN	L	1395;1385	ENSP00000374171:P1395L;ENSP00000387593:P1385L	ENSP00000374171:P1395L	P	+	2	0	TANC2	58851229	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	0.519000	0.22862	-0.164000	0.10927	0.561000	0.74099	CCG	TANC2	-	NULL	ENSG00000170921		0.537	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	-	0.00	47	0	C			61497497	+1	tier1	-	no_errors	ENST00000424789	ensembl	human	known	74_37	missense	32.65	33	16	SNP	0.065	T
TBL2	26608	genome.wustl.edu	37	7	72987738	72987738	+	Silent	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:72987738C>T	ENST00000305632.5	-	4	751	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Silent_p.E170E|TBL2_ENST00000432538.1_Silent_p.E134E	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	170							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGCCCCCATCCTCCCGCTTGG	0.562																																																	0													131.0	112.0	118.0					7																	72987738		2203	4300	6503	SO:0001819	synonymous_variant	0			AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.510G>A	7.37:g.72987738C>T			Q9UQE2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G163R	ENST00000305632.5	37	c.487	CCDS5551.1	7																																																																																			TBL2	-	NULL	ENSG00000106638		0.562	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL2	HGNC	protein_coding	OTTHUMT00000252233.3	-	0.00	42	0	C	NM_012453		72987738	-1	tier1	-	no_errors	ENST00000450285	ensembl	human	known	74_37	missense	19.51	33	8	SNP	0.282	T
TET3	200424	genome.wustl.edu	37	2	74329136	74329136	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:74329136G>A	ENST00000409262.3	+	9	4816	c.4816G>A	c.(4816-4818)Ggg>Agg	p.G1606R		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1606					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAAGCTCTACGGGAAGAAGCG	0.677																																																	0													11.0	15.0	14.0					2																	74329136		2032	4163	6195	SO:0001583	missense	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4816G>A	2.37:g.74329136G>A	ENSP00000386869:p.Gly1606Arg		A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	NULL	p.G1606R	ENST00000409262.3	37	c.4816	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696240	0.68386	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.14144	2.53	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03060	-1.1077	10	0.45353	T	0.12	.	17.6308	0.88106	0.0:0.0:1.0:0.0	.	1606	O43151	TET3_HUMAN	R	1606;1490	ENSP00000386869:G1606R	ENSP00000233310:G1490R	G	+	1	0	TET3	74182644	1.000000	0.71417	0.959000	0.39883	0.694000	0.40290	5.250000	0.65432	2.707000	0.92482	0.655000	0.94253	GGG	TET3	-	NULL	ENSG00000187605		0.677	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	-	0.00	9	0	G			74329136	+1	tier1	-	no_errors	ENST00000409262	ensembl	human	known	74_37	missense	40.91	13	9	SNP	1.000	A
TGFBR2	7048	genome.wustl.edu	37	3	30715618	30715618	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:30715618G>A	ENST00000295754.5	+	5	1658	c.1276G>A	c.(1276-1278)Gct>Act	p.A426T	TGFBR2_ENST00000359013.4_Missense_Mutation_p.A451T	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	426	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AAGATACATGGCTCCAGAAGT	0.453																																																	0			GRCh37	CM086983	TGFBR2	M							122.0	113.0	116.0					3																	30715618		2203	4300	6503	SO:0001583	missense	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1276G>A	3.37:g.30715618G>A	ENSP00000295754:p.Ala426Thr		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.A451T	ENST00000295754.5	37	c.1351	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.832816	0.97003	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.97455	-4.39;-4.39	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99214	0.9727	H	0.98048	4.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.98730	1.0712	10	0.87932	D	0	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	426;451	P37173;D2JYI1	TGFR2_HUMAN;.	T	426;451;256	ENSP00000295754:A426T;ENSP00000351905:A451T	ENSP00000295754:A426T	A	+	1	0	TGFBR2	30690622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.850000	0.98022	0.650000	0.86243	GCT	TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Prot_kinase_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_dom	ENSG00000163513		0.453	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	-	0.00	87	0	G			30715618	+1	tier1	-	no_errors	ENST00000359013	ensembl	human	known	74_37	missense	34.41	61	32	SNP	1.000	A
TFDP2	7029	genome.wustl.edu	37	3	141820587	141820587	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:141820587G>A	ENST00000489671.1	-	2	435	c.5C>T	c.(4-6)aCg>aTg	p.T2M	TFDP2_ENST00000317104.7_De_novo_Start_OutOfFrame|TFDP2_ENST00000499676.2_De_novo_Start_OutOfFrame|TFDP2_ENST00000464782.1_Intron|TFDP2_ENST00000467072.1_De_novo_Start_OutOfFrame			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	2					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						ATTTTTTGCCGTCATGTCAAA	0.274																																																	0																																										SO:0001583	missense	0			U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.5C>T	3.37:g.141820587G>A	ENSP00000420616:p.Thr2Met		B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP	p.T2M	ENST00000489671.1	37	c.5	CCDS54650.1	3	.	.	.	.	.	.	.	.	.	.	G	6.648	0.487978	0.12641	.	.	ENSG00000114126	ENST00000489671;ENST00000467634	T;T	0.34072	1.86;1.38	4.71	0.224	0.15297	.	.	.	.	.	T	0.14399	0.0348	N	0.12182	0.205	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.31336	-0.9947	9	0.02654	T	1	.	7.0557	0.25097	0.504:0.0:0.496:0.0	.	2	Q14188	TFDP2_HUMAN	M	2	ENSP00000420616:T2M;ENSP00000419540:T2M	ENSP00000419540:T2M	T	-	2	0	TFDP2	143303277	0.999000	0.42202	0.999000	0.59377	0.998000	0.95712	0.444000	0.21661	0.102000	0.17638	0.561000	0.74099	ACG	TFDP2	-	pirsf_Transcrpt_fac_DP	ENSG00000114126		0.274	TFDP2-001	KNOWN	basic|CCDS	protein_coding	TFDP2	HGNC	protein_coding	OTTHUMT00000353294.4	-	0.00	96	0	G	NM_006286		141820587	-1	tier1	-	no_errors	ENST00000489671	ensembl	human	known	74_37	missense	27.59	63	24	SNP	0.992	A
THAP11	57215	genome.wustl.edu	37	16	67877021	67877021	+	Silent	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr16:67877021C>T	ENST00000303596.1	+	1	809	c.564C>T	c.(562-564)atC>atT	p.I188I	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		TGAAGCCCATCGATCTCACAG	0.657																																																	0													80.0	93.0	89.0					16																	67877021		2198	4300	6498	SO:0001819	synonymous_variant	0			AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.564C>T	16.37:g.67877021C>T			A4UCT5|A8K002|O94795	Silent	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.I188	ENST00000303596.1	37	c.564	CCDS10847.1	16																																																																																			THAP11	-	NULL	ENSG00000168286		0.657	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP11	HGNC	protein_coding	OTTHUMT00000268879.1	-	0.00	53	0	C	NM_020457		67877021	+1	tier1	-	no_errors	ENST00000303596	ensembl	human	known	74_37	silent	44.90	27	22	SNP	0.997	T
TNNI3	7137	genome.wustl.edu	37	19	55668465	55668465	+	Missense_Mutation	SNP	G	G	A	rs267607128		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:55668465G>A	ENST00000344887.5	-	3	203	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	TNNI3_ENST00000588882.1_5'Flank|TNNI3_ENST00000590463.1_5'UTR|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000587789.2_5'Flank|CTD-2587H24.4_ENST00000587871.1_3'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	21					cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GAGGAGCGGCGTCTGATTGGG	0.667																																																	0			GRCh37	CM034574	TNNI3	M							45.0	53.0	50.0					19																	55668465		2007	4155	6162	SO:0001583	missense	0			M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.61C>T	19.37:g.55668465G>A	ENSP00000341838:p.Arg21Cys			Missense_Mutation	SNP	pfam_Troponin,pfam_Troponin-I_N	p.R21C	ENST00000344887.5	37	c.61	CCDS42628.1	19	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024448	0.54683	.	.	ENSG00000129991	ENST00000344887	D	0.95103	-3.61	4.01	4.01	0.46588	.	0.000000	0.53938	D	0.000051	D	0.94857	0.8338	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.66084	0.941	D	0.95675	0.8727	10	0.87932	D	0	-22.277	15.7666	0.78131	0.0:0.0:1.0:0.0	.	21	P19429	TNNI3_HUMAN	C	21	ENSP00000341838:R21C	ENSP00000341838:R21C	R	-	1	0	TNNI3	60360277	0.967000	0.33354	0.974000	0.42286	0.754000	0.42855	2.079000	0.41577	2.178000	0.69098	0.462000	0.41574	CGC	TNNI3	-	pfam_Troponin-I_N	ENSG00000129991		0.667	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNI3	HGNC	protein_coding	OTTHUMT00000452098.1	-	0.00	119	0	G			55668465	-1	tier1	-	no_errors	ENST00000344887	ensembl	human	known	74_37	missense	35.71	81	45	SNP	0.998	A
TOM1L2	146691	genome.wustl.edu	37	17	17783045	17783045	+	Silent	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:17783045G>T	ENST00000379504.3	-	7	756	c.673C>A	c.(673-675)Cgg>Agg	p.R225R	TOM1L2_ENST00000540946.1_Silent_p.R127R|TOM1L2_ENST00000535933.1_Silent_p.R172R|TOM1L2_ENST00000318094.10_Silent_p.R180R|TOM1L2_ENST00000581396.1_Silent_p.R175R|TOM1L2_ENST00000542206.1_Silent_p.R77R|TOM1L2_ENST00000395739.4_Silent_p.R180R	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	225	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					AGTTCACTCCGCAGCCTGGCA	0.507																																					Melanoma(192;2505 2909 14455 25269)												0													115.0	104.0	108.0					17																	17783045		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.673C>A	17.37:g.17783045G>T			B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Silent	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.R225	ENST00000379504.3	37	c.673	CCDS42270.1	17																																																																																			TOM1L2	-	pfam_GAT,pirsf_TOM1,pfscan_GAT	ENSG00000175662		0.507	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOM1L2	HGNC	protein_coding	OTTHUMT00000131928.1	-	0.00	54	0	G			17783045	-1	tier1	-	no_errors	ENST00000379504	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	T
TPM4	7171	genome.wustl.edu	37	19	16186866	16186866	+	5'Flank	SNP	G	G	C			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:16186866G>C	ENST00000300933.4	+	0	0				TPM4_ENST00000538887.1_Missense_Mutation_p.E42Q|TPM4_ENST00000344824.6_Missense_Mutation_p.E42Q	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GGTGGAGGAGGAGCTGACGCA	0.612			T	ALK	ALCL																																			Dom	yes		19	19p13.1	7171	tropomyosin 4		L	0													31.0	31.0	31.0					19																	16186866		1567	3577	5144	SO:0001631	upstream_gene_variant	0				CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"""Tropomyosins"""	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134		19.37:g.16186866G>C	Exception_encountered		P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Missense_Mutation	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.E42Q	ENST00000300933.4	37	c.124	CCDS12338.1	19	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547126	0.86022	.	.	ENSG00000167460	ENST00000344824;ENST00000538887	T;T	0.81163	-1.46;-1.46	3.97	2.89	0.33648	.	7739.210000	0.00166	U	0.000005	D	0.86936	0.6053	.	.	.	0.41869	D	0.990266	P	0.43519	0.809	P	0.51999	0.687	T	0.71922	-0.4446	9	0.87932	D	0	-9.613	11.9073	0.52719	0.0:0.1856:0.8144:0.0	.	42	P67936-2	.	Q	42	ENSP00000345230:E42Q;ENSP00000439135:E42Q	ENSP00000345230:E42Q	E	+	1	0	TPM4	16047866	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.591000	0.82666	0.820000	0.34516	0.591000	0.81541	GAG	TPM4	-	NULL	ENSG00000167460		0.612	TPM4-002	KNOWN	basic|CCDS	protein_coding	TPM4	HGNC	protein_coding	OTTHUMT00000459673.2	-	0.00	91	0	G	NM_003290		16186866	+1	tier1	-	no_errors	ENST00000344824	ensembl	human	known	74_37	missense	27.27	48	18	SNP	1.000	C
TPM4	7171	genome.wustl.edu	37	19	16186908	16186908	+	5'Flank	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:16186908G>A	ENST00000300933.4	+	0	0				TPM4_ENST00000538887.1_Missense_Mutation_p.E56K|TPM4_ENST00000344824.6_Missense_Mutation_p.E56K	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GACAGAGGACGAGCTGGATAA	0.617			T	ALK	ALCL																																			Dom	yes		19	19p13.1	7171	tropomyosin 4		L	0													35.0	36.0	36.0					19																	16186908		1567	3577	5144	SO:0001631	upstream_gene_variant	0				CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"""Tropomyosins"""	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134		19.37:g.16186908G>A	Exception_encountered		P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Missense_Mutation	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.E56K	ENST00000300933.4	37	c.166	CCDS12338.1	19	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402627	0.62288	.	.	ENSG00000167460	ENST00000344824;ENST00000538887	T;T	0.80033	-1.33;-1.33	3.74	3.74	0.42951	.	0.875698	0.09166	U	0.839582	T	0.77089	0.4079	.	.	.	0.36495	D	0.86865	B	0.17667	0.023	B	0.17098	0.017	T	0.74399	-0.3678	9	0.87932	D	0	-4.1437	14.3058	0.66384	0.0:0.0:1.0:0.0	.	56	P67936-2	.	K	56	ENSP00000345230:E56K;ENSP00000439135:E56K	ENSP00000345230:E56K	E	+	1	0	TPM4	16047908	1.000000	0.71417	0.838000	0.33150	0.256000	0.26092	9.404000	0.97306	1.914000	0.55421	0.591000	0.81541	GAG	TPM4	-	pfam_Tropomyosin	ENSG00000167460		0.617	TPM4-002	KNOWN	basic|CCDS	protein_coding	TPM4	HGNC	protein_coding	OTTHUMT00000459673.2	-	0.00	123	0	G	NM_003290		16186908	+1	tier1	-	no_errors	ENST00000344824	ensembl	human	known	74_37	missense	34.02	64	33	SNP	1.000	A
TPM3P9	147804	genome.wustl.edu	37	19	53945524	53945524	+	RNA	SNP	A	A	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:53945524A>G	ENST00000424846.3	+	0	521				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		TGATCATTGAAGGAGACATGG	0.498																																																	0																																												0					19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53945524A>G				RNA	SNP	-	NULL	ENST00000424846.3	37	NULL		19																																																																																			TPM3P9	-	-	ENSG00000241015		0.498	TPM3P9-002	KNOWN	basic	processed_transcript	TPM3P9	HGNC	pseudogene	OTTHUMT00000347070.1	-	0.00	83	0	A	NR_003148		53945524	+1	tier1	-	no_errors	ENST00000424846	ensembl	human	known	74_37	rna	34.55	36	19	SNP	1.000	G
TPP2	7174	genome.wustl.edu	37	13	103301602	103301602	+	Intron	DEL	T	T	-			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr13:103301602delT	ENST00000376065.4	+	22	2909				TPP2_ENST00000376052.3_Intron	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GATGTAGTCATTTTTTTTTTG	0.333																																																	0																																										SO:0001627	intron_variant	0			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.2873+101T>-	13.37:g.103301602delT			Q5VZU8	RNA	DEL	-	NULL	ENST00000376065.4	37	NULL	CCDS9502.1	13																																																																																			TPP2	-	-	ENSG00000134900		0.333	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP2	HGNC	protein_coding	OTTHUMT00000045683.2		0.00	27	0	T			103301602	+1	tier1		no_errors	ENST00000490420	ensembl	human	known	74_37	rna	17.14	29	6	DEL	0.000	-
TPTE2	93492	genome.wustl.edu	37	13	20012288	20012288	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr13:20012288T>A	ENST00000400230.2	-	14	1023	c.979A>T	c.(979-981)Acc>Tcc	p.T327S	TPTE2_ENST00000390680.2_Missense_Mutation_p.T250S|TPTE2_ENST00000255310.6_Missense_Mutation_p.T250S|TPTE2_ENST00000382977.4_Missense_Mutation_p.T327S|TPTE2_ENST00000382978.1_Missense_Mutation_p.T287S|TPTE2_ENST00000400103.2_Missense_Mutation_p.T216S|TPTE2_ENST00000457266.2_Missense_Mutation_p.T216S|TPTE2_ENST00000382975.4_Missense_Mutation_p.T287S			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	327	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATAGTCCCGGTTCttcctaga	0.338																																																	0													54.0	53.0	53.0					13																	20012288		2203	4300	6503	SO:0001583	missense	0			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.979A>T	13.37:g.20012288T>A	ENSP00000383089:p.Thr327Ser		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.T327S	ENST00000400230.2	37	c.979	CCDS45014.1	13	.	.	.	.	.	.	.	.	.	.	t	12.75	2.032386	0.35893	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.99014	-5.33;-5.33;-5.33;-5.33;-5.33;-5.33;-5.33;-5.33	2.41	2.41	0.29592	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98757	0.9582	M	0.70842	2.15	0.45216	D	0.998228	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.995;0.998	D	0.98124	1.0427	9	.	.	.	-30.4995	6.7869	0.23677	0.0:0.0:0.0:1.0	.	216;250;327	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	S	287;216;327;250;250;327;287;216;327;196	ENSP00000372438:T287S;ENSP00000382974:T216S;ENSP00000383089:T327S;ENSP00000255310:T250S;ENSP00000375098:T250S;ENSP00000372437:T327S;ENSP00000372435:T287S;ENSP00000442218:T216S	.	T	-	1	0	TPTE2	18910288	1.000000	0.71417	0.960000	0.40013	0.284000	0.27059	3.127000	0.50484	1.358000	0.45922	0.378000	0.23410	ACC	TPTE2	-	pfam_Dual-sp_phosphatase_cat-dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ	ENSG00000132958		0.338	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TPTE2	HGNC	protein_coding		-	0.00	131	0	T	NM_199254		20012288	-1	tier1	-	no_errors	ENST00000382977	ensembl	human	known	74_37	missense	31.19	75	34	SNP	0.984	A
TRAPPC5	126003	genome.wustl.edu	37	19	7747244	7747244	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:7747244G>T	ENST00000317378.5	+	2	292	c.105G>T	c.(103-105)gaG>gaT	p.E35D	TRAPPC5_ENST00000595985.1_Intron|TRAPPC5_ENST00000426877.2_Missense_Mutation_p.E35D|CTD-3214H19.16_ENST00000597959.1_Missense_Mutation_p.S94I|TRAPPC5_ENST00000596148.1_Missense_Mutation_p.E35D	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	35					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				NS(1)|lung(2)	3						TGTTCTCCGAGCTGGTACAGC	0.746																																																	0													11.0	13.0	12.0					19																	7747244		1744	3685	5429	SO:0001583	missense	0			BC042161	CCDS42490.1	19p13.3	2011-10-10				ENSG00000181029		"""Trafficking protein particle complex"""	23067	protein-coding gene	gene with protein product							Standard	NM_001042462		Approved	MGC52424, TRS31	uc002mhj.2	Q8IUR0		ENST00000317378.5:c.105G>T	19.37:g.7747244G>T	ENSP00000316990:p.Glu35Asp		A8K7I6	Missense_Mutation	SNP	pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_su5	p.E35D	ENST00000317378.5	37	c.105	CCDS42490.1	19	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262497	0.80358	.	.	ENSG00000181029	ENST00000317378;ENST00000426877	T;T	0.61158	0.13;0.13	4.09	4.09	0.47781	NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.85682	U	0.000000	T	0.81197	0.4772	H	0.96777	3.88	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	D	0.84225	0.0463	10	0.87932	D	0	-2.8181	7.8485	0.29440	0.1169:0.0:0.8831:0.0	.	35	Q8IUR0	TPPC5_HUMAN	D	35	ENSP00000316990:E35D;ENSP00000399025:E35D	ENSP00000316990:E35D	E	+	3	2	TRAPPC5	7653244	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	3.484000	0.53201	1.837000	0.53436	0.555000	0.69702	GAG	TRAPPC5	-	pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_su5	ENSG00000181029		0.746	TRAPPC5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAPPC5	HGNC	protein_coding	OTTHUMT00000461252.1	-	0.00	37	0	G	XM_058961		7747244	+1	tier1	-	no_errors	ENST00000317378	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T
TRIM35	23087	genome.wustl.edu	37	8	27156030	27156030	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:27156030G>A	ENST00000305364.4	-	2	565	c.482C>T	c.(481-483)gCc>gTc	p.A161V	TRIM35_ENST00000521253.1_Intron	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	161					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GGCCCAGAAGGCCTTGGCCTT	0.607																																																	0													100.0	89.0	93.0					8																	27156030		2203	4300	6503	SO:0001583	missense	0			AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16285	protein-coding gene	gene with protein product			"""tripartite motif-containing 35"""			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.482C>T	8.37:g.27156030G>A	ENSP00000301924:p.Ala161Val		Q86XQ0|Q8WVA4	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.A161V	ENST00000305364.4	37	c.482	CCDS6056.2	8	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763703	0.49574	.	.	ENSG00000104228	ENST00000305364	T	0.64085	-0.08	5.35	5.35	0.76521	.	.	.	.	.	T	0.55768	0.1941	L	0.44542	1.39	0.80722	D	1	B	0.16802	0.019	B	0.19391	0.025	T	0.51818	-0.8657	9	0.39692	T	0.17	.	14.592	0.68373	0.0:0.0:1.0:0.0	.	161	Q9UPQ4	TRI35_HUMAN	V	161	ENSP00000301924:A161V	ENSP00000301924:A161V	A	-	2	0	TRIM35	27211947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.619000	0.54196	2.503000	0.84419	0.655000	0.94253	GCC	TRIM35	-	NULL	ENSG00000104228		0.607	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM35	HGNC	protein_coding	OTTHUMT00000219848.2	-	0.00	38	0	G	NM_171982		27156030	-1	tier1	-	no_errors	ENST00000305364	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	A
TRIM56	81844	genome.wustl.edu	37	7	100730776	100730776	+	Silent	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:100730776G>A	ENST00000306085.6	+	3	480	c.183G>A	c.(181-183)gaG>gaA	p.E61E		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	61					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTGCCGCGAGACAGTGCCTG	0.672																																					Ovarian(89;1092 1379 22756 38989 39611)												0													38.0	49.0	46.0					7																	100730776		2139	4238	6377	SO:0001819	synonymous_variant	0			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.183G>A	7.37:g.100730776G>A			Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.E61	ENST00000306085.6	37	c.183	CCDS43625.1	7																																																																																			TRIM56	-	NULL	ENSG00000169871		0.672	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	HGNC	protein_coding	OTTHUMT00000347185.1	-	0.00	22	0	G	NM_030961		100730776	+1	tier1	-	no_errors	ENST00000306085	ensembl	human	known	74_37	silent	21.74	36	10	SNP	0.017	A
TRIM56	81844	genome.wustl.edu	37	7	100730795	100730795	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:100730795G>C	ENST00000306085.6	+	3	499	c.202G>C	c.(202-204)Gag>Cag	p.E68Q		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	68					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TGTGCCGCCCGAGGGTGTGGC	0.682																																					Ovarian(89;1092 1379 22756 38989 39611)												0													42.0	53.0	50.0					7																	100730795		2137	4245	6382	SO:0001583	missense	0			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.202G>C	7.37:g.100730795G>C	ENSP00000305161:p.Glu68Gln		Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.E68Q	ENST00000306085.6	37	c.202	CCDS43625.1	7	.	.	.	.	.	.	.	.	.	.	G	0.095	-1.161065	0.01673	.	.	ENSG00000169871	ENST00000306085;ENST00000412507	T;T	0.42900	0.96;1.3	3.86	0.98	0.19750	.	1.226790	0.06049	N	0.656276	T	0.19805	0.0476	N	0.08118	0	0.09310	N	1	B;B	0.24651	0.108;0.001	B;B	0.24394	0.053;0.003	T	0.23619	-1.0183	10	0.10902	T	0.67	.	4.1974	0.10450	0.2169:0.191:0.5921:0.0	.	68;68	C9JI91;Q9BRZ2	.;TRI56_HUMAN	Q	68	ENSP00000305161:E68Q;ENSP00000404186:E68Q	ENSP00000305161:E68Q	E	+	1	0	TRIM56	100517515	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.448000	0.21726	0.199000	0.20427	-0.218000	0.12543	GAG	TRIM56	-	NULL	ENSG00000169871		0.682	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	HGNC	protein_coding	OTTHUMT00000347185.1		0.00	21	0	G	NM_030961		100730795	+1			no_errors	ENST00000306085	ensembl	human	known	74_37	missense	22.50	29	9	SNP	0.000	C
TRIM56	81844	genome.wustl.edu	37	7	100731162	100731162	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:100731162G>C	ENST00000306085.6	+	3	866	c.569G>C	c.(568-570)aGa>aCa	p.R190T		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	190					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TTGCTGTGCAGAGAGTGCCGC	0.701																																					Ovarian(89;1092 1379 22756 38989 39611)												0													19.0	25.0	23.0					7																	100731162		2088	4219	6307	SO:0001583	missense	0			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.569G>C	7.37:g.100731162G>C	ENSP00000305161:p.Arg190Thr		Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.R190T	ENST00000306085.6	37	c.569	CCDS43625.1	7	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031436	0.35797	.	.	ENSG00000169871	ENST00000306085;ENST00000412507	T;T	0.42131	0.98;0.98	3.99	3.11	0.35812	Zinc finger, B-box (3);	0.228753	0.22889	N	0.054415	T	0.31827	0.0809	L	0.28649	0.875	0.28750	N	0.90147	P;P	0.37914	0.611;0.458	B;B	0.43123	0.321;0.409	T	0.11641	-1.0579	10	0.25751	T	0.34	.	7.4349	0.27150	0.1164:0.0:0.8836:0.0	.	190;190	C9JI91;Q9BRZ2	.;TRI56_HUMAN	T	190	ENSP00000305161:R190T;ENSP00000404186:R190T	ENSP00000305161:R190T	R	+	2	0	TRIM56	100517882	0.882000	0.30256	0.782000	0.31804	0.988000	0.76386	3.031000	0.49728	1.250000	0.43966	0.655000	0.94253	AGA	TRIM56	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000169871		0.701	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	HGNC	protein_coding	OTTHUMT00000347185.1	-	0.00	59	0	G	NM_030961		100731162	+1	tier1	-	no_errors	ENST00000306085	ensembl	human	known	74_37	missense	18.92	30	7	SNP	0.964	C
TRMT44	152992	genome.wustl.edu	37	4	8448312	8448312	+	Silent	SNP	A	A	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:8448312A>G	ENST00000389737.4	+	2	729	c.729A>G	c.(727-729)gaA>gaG	p.E243E	TRMT44_ENST00000513449.2_Missense_Mutation_p.K12R	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	243					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										ATAGCAAAGAAGAATGGTAAG	0.423																																																	0																																										SO:0001819	synonymous_variant	0			AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"""tRNA methyltransferase 44 homolog (S. cerevisiae)"""	614309	"""chromosome 4 open reading frame 23"", ""methyltransferase like 19"""	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.729A>G	4.37:g.8448312A>G			Q8NA95	Missense_Mutation	SNP	pfam_tRNA_uracil_MeTrfase	p.K12R	ENST00000389737.4	37	c.35	CCDS3402.2	4	.	.	.	.	.	.	.	.	.	.	A	1.444	-0.566870	0.03910	.	.	ENSG00000155275	ENST00000513449	T	0.17213	2.29	4.91	-0.197	0.13228	.	.	.	.	.	T	0.07413	0.0187	.	.	.	0.09310	N	0.999997	B	0.11235	0.004	B	0.06405	0.002	T	0.42050	-0.9474	8	0.14656	T	0.56	-1.7963	3.8296	0.08868	0.3567:0.0:0.2869:0.3564	.	12	Q8IYL2-2	.	R	12	ENSP00000424643:K12R	ENSP00000424643:K12R	K	+	2	0	METTL19	8499212	0.593000	0.26840	0.001000	0.08648	0.001000	0.01503	-0.431000	0.06965	0.029000	0.15352	0.496000	0.49642	AAG	TRMT44	-	NULL	ENSG00000155275		0.423	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRMT44	HGNC	protein_coding	OTTHUMT00000359197.2	-	0.00	146	0	A	NM_152544		8448312	+1	tier1	-	no_errors	ENST00000513449	ensembl	human	known	74_37	missense	38.60	70	44	SNP	0.005	G
TRPA1	8989	genome.wustl.edu	37	8	72935276	72935276	+	Silent	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:72935276G>A	ENST00000262209.4	-	27	3432	c.3225C>T	c.(3223-3225)atC>atT	p.I1075I	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1075					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTGTCTCAGAGATGATCTCCA	0.388																																																	0													193.0	166.0	175.0					8																	72935276		2203	4300	6503	SO:0001819	synonymous_variant	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.3225C>T	8.37:g.72935276G>A			A6NIN6	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.I1075	ENST00000262209.4	37	c.3225	CCDS34908.1	8																																																																																			TRPA1	-	NULL	ENSG00000104321		0.388	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	-	0.00	71	0	G	NM_007332		72935276	-1	tier1	-	no_errors	ENST00000262209	ensembl	human	known	74_37	silent	32.89	51	25	SNP	1.000	A
TSR1	55720	genome.wustl.edu	37	17	2236267	2236267	+	Silent	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:2236267C>T	ENST00000301364.5	-	7	2372	c.1293G>A	c.(1291-1293)gaG>gaA	p.E431E	SNORD91A_ENST00000390861.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	431	Glu-rich.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						GAGATTCCTCCTCCATAAAAT	0.448																																																	0													158.0	144.0	148.0					17																	2236267		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1293G>A	17.37:g.2236267C>T			Q8WUY5|Q9NVT0|Q9P2E6	Silent	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_B-barrel,smart_AARP2CN	p.E431	ENST00000301364.5	37	c.1293	CCDS32525.1	17																																																																																			TSR1	-	NULL	ENSG00000167721		0.448	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR1	HGNC	protein_coding	OTTHUMT00000438180.2	-	0.00	72	0	C	NM_018128		2236267	-1	tier1	-	no_errors	ENST00000301364	ensembl	human	known	74_37	silent	30.51	41	18	SNP	0.997	T
TTC29	83894	genome.wustl.edu	37	4	147824756	147824756	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:147824756C>T	ENST00000325106.4	-	6	752	c.526G>A	c.(526-528)Gac>Aac	p.D176N	TTC29_ENST00000398886.4_Missense_Mutation_p.D202N|TTC29_ENST00000513335.1_Missense_Mutation_p.D202N	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	176										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTCCCACAGTCAATTTTGATC	0.448																																																	0													100.0	97.0	98.0					4																	147824756		1899	4120	6019	SO:0001583	missense	0			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.526G>A	4.37:g.147824756C>T	ENSP00000316740:p.Asp176Asn		A4GU95|Q9BXB6	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.D202N	ENST00000325106.4	37	c.604	CCDS47141.1	4	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367690	0.82463	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.62	5.62	0.85841	.	0.051572	0.85682	D	0.000000	T	0.44286	0.1286	M	0.78049	2.395	0.45172	D	0.998188	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.998	T	0.14783	-1.0460	10	0.30854	T	0.27	-27.4212	17.8705	0.88810	0.0:1.0:0.0:0.0	.	176;202;176	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	N	202;202;176;176;176	ENSP00000423505:D202N;ENSP00000381861:D202N;ENSP00000316740:D176N;ENSP00000425778:D176N	ENSP00000316740:D176N	D	-	1	0	TTC29	148044206	1.000000	0.71417	0.993000	0.49108	0.639000	0.38242	5.239000	0.65371	2.648000	0.89879	0.650000	0.86243	GAC	TTC29	-	NULL	ENSG00000137473		0.448	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC29	HGNC	protein_coding		-	0.00	103	0	C	NM_031956		147824756	-1	tier1	-	no_errors	ENST00000398886	ensembl	human	known	74_37	missense	24.05	60	19	SNP	1.000	T
TUBGCP3	10426	genome.wustl.edu	37	13	113158952	113158952	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr13:113158952G>T	ENST00000261965.3	-	18	2349	c.2163C>A	c.(2161-2163)taC>taA	p.Y721*	TUBGCP3_ENST00000375669.3_Nonsense_Mutation_p.Y721*	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	721					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CAAATGTGATGTAATACTGCA	0.383																																																	0													104.0	89.0	94.0					13																	113158952		2203	4300	6503	SO:0001587	stop_gained	0			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.2163C>A	13.37:g.113158952G>T	ENSP00000261965:p.Tyr721*		O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Nonsense_Mutation	SNP	pfam_TUBGCP	p.Y721*	ENST00000261965.3	37	c.2163	CCDS9525.1	13	.	.	.	.	.	.	.	.	.	.	G	39	7.331829	0.98217	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	.	.	.	4.97	2.26	0.28386	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.2813	10.0982	0.42488	0.2209:0.0:0.7791:0.0	.	.	.	.	X	721	.	ENSP00000261965:Y721X	Y	-	3	2	TUBGCP3	112206953	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	2.952000	0.49097	0.522000	0.28464	-0.151000	0.13558	TAC	TUBGCP3	-	pfam_TUBGCP	ENSG00000126216		0.383	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP3	HGNC	protein_coding	OTTHUMT00000045825.2		0.00	77	0	G	NM_006322		113158952	-1			no_errors	ENST00000261965	ensembl	human	known	74_37	nonsense	5.71	66	4	SNP	1.000	T
TULP4	56995	genome.wustl.edu	37	6	158924056	158924056	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:158924056C>G	ENST00000367097.3	+	13	4718	c.3361C>G	c.(3361-3363)Cct>Gct	p.P1121A	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1121					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		ACGGCCACCCCCTTACCAGTG	0.587																																																	0													69.0	64.0	66.0					6																	158924056		2203	4300	6503	SO:0001583	missense	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3361C>G	6.37:g.158924056C>G	ENSP00000356064:p.Pro1121Ala		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P1121A	ENST00000367097.3	37	c.3361	CCDS34561.1	6	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738314	0.49045	.	.	ENSG00000130338	ENST00000367097	T	0.21734	1.99	4.68	4.68	0.58851	.	0.058707	0.64402	D	0.000001	T	0.38692	0.1050	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.32640	-0.9899	10	0.87932	D	0	-10.3359	17.7723	0.88496	0.0:1.0:0.0:0.0	.	1121	Q9NRJ4	TULP4_HUMAN	A	1121	ENSP00000356064:P1121A	ENSP00000356064:P1121A	P	+	1	0	TULP4	158844044	1.000000	0.71417	0.982000	0.44146	0.323000	0.28346	7.064000	0.76721	2.423000	0.82170	0.561000	0.74099	CCT	TULP4	-	NULL	ENSG00000130338		0.587	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	-	0.00	122	0	C	NM_020245		158924056	+1	tier1	-	no_errors	ENST00000367097	ensembl	human	known	74_37	missense	40.54	44	30	SNP	0.997	G
UBE2D2	7322	genome.wustl.edu	37	5	139003036	139003036	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:139003036G>C	ENST00000398733.3	+	6	1014	c.388G>C	c.(388-390)Gat>Cat	p.D130H	UBE2D2_ENST00000505548.1_Missense_Mutation_p.D101H|UBE2D2_ENST00000511725.1_Missense_Mutation_p.D101H|UBE2D2_ENST00000253815.2_Missense_Mutation_p.D101H	NM_003339.2	NP_003330.1	P62837	UB2D2_HUMAN	ubiquitin-conjugating enzyme E2D 2	130					cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTACAAAACAGATAGAGAAAA	0.403																																																	0													164.0	147.0	152.0					5																	139003036		1904	4154	6058	SO:0001583	missense	0			L40146	CCDS43369.1, CCDS47275.1	5q31.2	2013-10-18	2011-05-19		ENSG00000131508	ENSG00000131508		"""Ubiquitin-conjugating enzymes E2"""	12475	protein-coding gene	gene with protein product		602962	"""ubiquitin-conjugating enzyme E2D 2 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181838		Approved	UbcH5B, UBC4	uc003ler.3	P62837	OTTHUMG00000163282	ENST00000398733.3:c.388G>C	5.37:g.139003036G>C	ENSP00000381717:p.Asp130His		D3DQC9|P51669|Q3MN78|Q96RP6	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.D130H	ENST00000398733.3	37	c.388	CCDS43369.1	5	.	.	.	.	.	.	.	.	.	.	G	22.3	4.278281	0.80692	.	.	ENSG00000131508	ENST00000511725;ENST00000398733;ENST00000253815;ENST00000398734;ENST00000505548	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	6.01	6.01	0.97437	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.80166	0.4573	M	0.81682	2.555	0.80722	D	1	B	0.24576	0.106	B	0.29942	0.109	T	0.77370	-0.2613	10	0.87932	D	0	.	20.5141	0.99211	0.0:0.0:1.0:0.0	.	130	P62837	UB2D2_HUMAN	H	101;130;101;130;101	ENSP00000429613:D101H;ENSP00000381717:D130H;ENSP00000253815:D101H;ENSP00000381718:D130H;ENSP00000424941:D101H	ENSP00000253815:D101H	D	+	1	0	UBE2D2	138983220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.866000	0.99616	2.850000	0.98022	0.655000	0.94253	GAT	UBE2D2	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000131508		0.403	UBE2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2D2	HGNC	protein_coding	OTTHUMT00000372454.3	-	0.00	82	0	G	NM_181838		139003036	+1	tier1	-	no_errors	ENST00000398733	ensembl	human	known	74_37	missense	43.82	50	39	SNP	1.000	C
UNC13A	23025	genome.wustl.edu	37	19	17740954	17740954	+	Splice_Site	SNP	C	C	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:17740954C>A	ENST00000519716.2	-	30	3668	c.3669G>T	c.(3667-3669)aaG>aaT	p.K1223N	UNC13A_ENST00000550896.1_Splice_Site_p.K1221N|UNC13A_ENST00000552293.1_Splice_Site_p.K1223N|UNC13A_ENST00000551649.1_Splice_Site_p.K1223N|UNC13A_ENST00000252773.7_Splice_Site_p.K1223N|UNC13A_ENST00000428389.2_Splice_Site_p.K1311N	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1223	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCTCCCACACCTTGGCAAAGC	0.532																																																	0													39.0	39.0	39.0					19																	17740954		1744	3761	5505	SO:0001630	splice_region_variant	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3669+1G>T	19.37:g.17740954C>A			E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.K1311N	ENST00000519716.2	37	c.3933	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	c	15.37	2.813572	0.50527	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48	3.01	3.01	0.34805	Munc13 homology 1 (1);	0.061067	0.64402	U	0.000006	T	0.15478	0.0373	L	0.60845	1.875	0.58432	D	0.999992	P	0.39847	0.691	B	0.40165	0.321	T	0.04930	-1.0917	9	.	.	.	.	11.54	0.50661	0.0:1.0:0.0:0.0	.	1223	Q9UPW8	UN13A_HUMAN	N	1223;1311;1223;1223;1223;1221	ENSP00000429562:K1223N;ENSP00000400409:K1311N;ENSP00000252773:K1223N;ENSP00000447236:K1223N;ENSP00000447572:K1223N;ENSP00000446831:K1221N	.	K	-	3	2	UNC13A	17601954	1.000000	0.71417	0.991000	0.47740	0.218000	0.24690	7.664000	0.83830	1.541000	0.49316	0.282000	0.19409	AAG	UNC13A	-	NULL	ENSG00000130477		0.532	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	-	0.00	77	0	C	XM_038604	Missense_Mutation	17740954	-1	tier1	-	no_errors	ENST00000428389	ensembl	human	known	74_37	missense	35.82	43	24	SNP	1.000	A
UNC79	57578	genome.wustl.edu	37	14	94158230	94158230	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr14:94158230G>T	ENST00000393151.2	+	47	7525	c.7525G>T	c.(7525-7527)Gca>Tca	p.A2509S	UNC79_ENST00000553484.1_Missense_Mutation_p.A2531S|UNC79_ENST00000256339.4_Missense_Mutation_p.A2332S|UNC79_ENST00000555664.1_Missense_Mutation_p.A2470S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2509					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GATACTGACAGCACTAGAATT	0.463																																																	0													140.0	128.0	132.0					14																	94158230		2203	4300	6503	SO:0001583	missense	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7525G>T	14.37:g.94158230G>T	ENSP00000376858:p.Ala2509Ser		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.A2531S	ENST00000393151.2	37	c.7591		14	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093185	0.76756	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18810	2.19;2.21;2.19;2.19	5.81	5.81	0.92471	.	0.052433	0.85682	D	0.000000	T	0.22003	0.0530	L	0.40543	1.245	0.52501	D	0.999956	B	0.31705	0.336	B	0.29862	0.108	T	0.01528	-1.1332	10	0.36615	T	0.2	-16.117	20.0784	0.97758	0.0:0.0:1.0:0.0	.	2531	C9JQL1	.	S	2332;2470;2531;2509;2531	ENSP00000256339:A2332S;ENSP00000450868:A2470S;ENSP00000451360:A2531S;ENSP00000376858:A2509S	ENSP00000256339:A2332S	A	+	1	0	KIAA1409	93227983	1.000000	0.71417	0.282000	0.24776	0.988000	0.76386	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	GCA	UNC79	-	superfamily_P-loop_NTPase	ENSG00000133958		0.463	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	-	0.00	63	0	G	XM_028395		94158230	+1	tier1	-	no_errors	ENST00000553484	ensembl	human	known	74_37	missense	10.42	43	5	SNP	0.999	T
USP47	55031	genome.wustl.edu	37	11	11974404	11974404	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:11974404G>A	ENST00000399455.2	+	26	3880	c.3760G>A	c.(3760-3762)Gaa>Aaa	p.E1254K	USP47_ENST00000305481.6_3'UTR|USP47_ENST00000339865.5_Missense_Mutation_p.E1166K|USP47_ENST00000527733.1_Missense_Mutation_p.E1234K|USP47_ENST00000539466.1_Missense_Mutation_p.E36K	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1254					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TAGTGTGGACGAATTGCGAGA	0.343																																																	0													145.0	132.0	136.0					11																	11974404		1862	4102	5964	SO:0001583	missense	0			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3760G>A	11.37:g.11974404G>A	ENSP00000382382:p.Glu1254Lys		B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.E1254K	ENST00000399455.2	37	c.3760		11	.	.	.	.	.	.	.	.	.	.	G	36	5.872571	0.97049	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000539466;ENST00000399455	T;T;T	0.04809	3.56;3.56;3.55	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.21509	0.0518	M	0.68317	2.08	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.71184	0.972;0.97	T	0.00016	-1.2389	10	0.72032	D	0.01	.	19.6795	0.95957	0.0:0.0:1.0:0.0	.	1234;1166	E9PM46;Q96K76-2	.;.	K	1166;1234;36;1254	ENSP00000339957:E1166K;ENSP00000433146:E1234K;ENSP00000382382:E1254K	ENSP00000339957:E1166K	E	+	1	0	USP47	11930980	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.695000	0.98691	2.821000	0.97095	0.650000	0.86243	GAA	USP47	-	NULL	ENSG00000170242		0.343	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	HGNC	protein_coding	OTTHUMT00000385853.2	-	0.00	163	0	G	NM_017944		11974404	+1	tier1	-	no_errors	ENST00000399455	ensembl	human	known	74_37	missense	40.41	87	59	SNP	1.000	A
VARS	7407	genome.wustl.edu	37	6	31747232	31747232	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:31747232C>T	ENST00000375663.3	-	28	3810	c.3370G>A	c.(3370-3372)Gac>Aac	p.D1124N	VWA7_ENST00000375686.3_5'Flank|VWA7_ENST00000447450.1_5'Flank|VARS_ENST00000482996.1_5'Flank|VWA7_ENST00000467576.1_5'Flank|VWA7_ENST00000375688.4_5'Flank|Y_RNA_ENST00000364685.1_RNA	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1124					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AGGTTGTAGTCGGCCCGCAGG	0.687																																																	0													41.0	35.0	38.0					6																	31747232		1510	2707	4217	SO:0001583	missense	0			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.3370G>A	6.37:g.31747232C>T	ENSP00000364815:p.Asp1124Asn		B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase	p.D1124N	ENST00000375663.3	37	c.3370	CCDS34412.1	6	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578149	0.45902	.	.	ENSG00000204394	ENST00000375663	T	0.11604	2.76	4.91	4.03	0.46877	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.161726	0.52532	D	0.000078	T	0.10981	0.0268	M	0.69248	2.105	0.80722	D	1	P	0.47253	0.892	P	0.48524	0.58	T	0.01371	-1.1372	10	0.62326	D	0.03	-16.6819	12.2869	0.54797	0.171:0.829:0.0:0.0	.	1124	P26640	SYVC_HUMAN	N	1124	ENSP00000364815:D1124N	ENSP00000364815:D1124N	D	-	1	0	VARS	31855211	0.990000	0.36364	0.827000	0.32855	0.236000	0.25371	2.924000	0.48876	1.274000	0.44362	0.462000	0.41574	GAC	VARS	-	pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Valyl-tRNA_ligase	ENSG00000204394		0.687	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS	HGNC	protein_coding	OTTHUMT00000076619.2	-	0.00	51	0	C	NM_006295		31747232	-1	tier1	-	no_errors	ENST00000375663	ensembl	human	known	74_37	missense	34.04	31	16	SNP	0.977	T
VIL1	7429	genome.wustl.edu	37	2	219294100	219294100	+	Silent	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:219294100G>T	ENST00000248444.5	+	7	748	c.660G>T	c.(658-660)ccG>ccT	p.P220P	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Silent_p.P220P	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	220	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCATCCCCGAAGCTGATGG	0.637																																																	0													77.0	76.0	76.0					2																	219294100		2203	4300	6503	SO:0001819	synonymous_variant	0			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.660G>T	2.37:g.219294100G>T			B2R9A7|Q53S11|Q96AC8	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.P220	ENST00000248444.5	37	c.660	CCDS2417.1	2																																																																																			VIL1	-	smart_Villin/Gelsolin	ENSG00000127831		0.637	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIL1	HGNC	protein_coding	OTTHUMT00000256778.3		0.00	44	0	G	NM_007127		219294100	+1			no_errors	ENST00000248444	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.005	T
VNN1	8876	genome.wustl.edu	37	6	133015212	133015212	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:133015212G>T	ENST00000367928.4	-	3	464	c.451C>A	c.(451-453)Cag>Aag	p.Q151K		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	151	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GGGGGACACTGAGGATCACTG	0.453																																																	0													181.0	162.0	168.0					6																	133015212		2203	4300	6503	SO:0001583	missense	0			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.451C>A	6.37:g.133015212G>T	ENSP00000356905:p.Gln151Lys		A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.Q151K	ENST00000367928.4	37	c.451	CCDS5159.1	6	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.967800	0.00457	.	.	ENSG00000112299	ENST00000367928	D	0.87256	-2.23	6.07	1.76	0.24704	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.665522	0.15245	N	0.272674	T	0.42966	0.1226	N	0.02802	-0.49	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.47611	-0.9104	10	0.06099	T	0.92	-12.6784	9.4972	0.38995	0.0:0.2758:0.4235:0.3006	.	151	O95497	VNN1_HUMAN	K	151	ENSP00000356905:Q151K	ENSP00000356905:Q151K	Q	-	1	0	VNN1	133056905	0.001000	0.12720	0.871000	0.34182	0.003000	0.03518	0.342000	0.19926	0.419000	0.25927	-0.188000	0.12872	CAG	VNN1	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	ENSG00000112299		0.453	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VNN1	HGNC	protein_coding	OTTHUMT00000042263.1	-	0.00	84	0	G			133015212	-1	tier1	-	no_errors	ENST00000367928	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.001	T
WASF3	10810	genome.wustl.edu	37	13	27255248	27255248	+	Silent	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr13:27255248G>T	ENST00000335327.5	+	8	952	c.774G>T	c.(772-774)ctG>ctT	p.L258L	WASF3_ENST00000361042.4_Silent_p.L255L	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	258					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		ACCATTCTCTGCACCCCCAGC	0.547																																																	0													83.0	91.0	89.0					13																	27255248		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.774G>T	13.37:g.27255248G>T			O94974|Q86VQ2	Silent	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.L258	ENST00000335327.5	37	c.774	CCDS9318.1	13																																																																																			WASF3	-	NULL	ENSG00000132970		0.547	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	HGNC	protein_coding	OTTHUMT00000044258.1	-	0.00	187	0	G			27255248	+1	tier1	-	no_errors	ENST00000335327	ensembl	human	known	74_37	silent	29.24	121	50	SNP	1.000	T
WDR16	146845	genome.wustl.edu	37	17	9497542	9497542	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:9497542C>G	ENST00000352665.5	+	4	509	c.440C>G	c.(439-441)gCc>gGc	p.A147G	WDR16_ENST00000299764.5_Missense_Mutation_p.A157G|WDR16_ENST00000576499.1_3'UTR|WDR16_ENST00000396219.3_Missense_Mutation_p.A79G	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGAGAGATGCCATCTGTGGC	0.458																																																	0													109.0	112.0	111.0					17																	9497542		2203	4300	6503	SO:0001583	missense	0			AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.440C>G	17.37:g.9497542C>G	ENSP00000339449:p.Ala147Gly			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A157G	ENST00000352665.5	37	c.470	CCDS11149.2	17	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007812	0.93287	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;D;T	0.89939	1.06;-2.59;5.01	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94634	0.8270	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.984	D;D;P	0.77557	0.99;0.986;0.669	D	0.94954	0.8102	10	0.72032	D	0.01	-27.4122	18.0915	0.89477	0.0:1.0:0.0:0.0	.	157;79;147	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	G	147;79;157	ENSP00000339449:A147G;ENSP00000379521:A79G;ENSP00000299764:A157G	ENSP00000299764:A157G	A	+	2	0	WDR16	9438267	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	6.760000	0.74939	2.645000	0.89757	0.591000	0.81541	GCC	WDR16	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000166596		0.458	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR16	HGNC	protein_coding	OTTHUMT00000316569.2	-	0.00	61	0	C	NM_145054		9497542	+1	tier1	-	no_errors	ENST00000299764	ensembl	human	known	74_37	missense	43.10	33	25	SNP	1.000	G
WHSC1	7468	genome.wustl.edu	37	4	1980408	1980409	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:1980408_1980409insC	ENST00000382895.3	+	24	4301_4302	c.3870_3871insC	c.(3871-3873)cctfs	p.P1291fs	WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.P1291fs|WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.P639fs|WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.P1291fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.P1291fs|WHSC1_ENST00000482415.2_3'UTR	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1291					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGTGTGGCAAACCTTCGACTTC	0.535			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0																																										SO:0001589	frameshift_variant	0			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3872dupC	4.37:g.1980410_1980410dupC	ENSP00000372351:p.Pro1291fs		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Frame_Shift_Ins	INS	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom	p.S1291fs	ENST00000382895.3	37	c.3870_3871	CCDS33940.1	4																																																																																			WHSC1	-	NULL	ENSG00000109685		0.535	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2		0.00	89	0	-	NM_133330		1980409	+1	tier1		no_errors	ENST00000382891	ensembl	human	known	74_37	frame_shift_ins	25.58	64	22	INS	0.978:0.992	C
WWC1	23286	genome.wustl.edu	37	5	167826550	167826550	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:167826550C>A	ENST00000265293.4	+	5	1070	c.568C>A	c.(568-570)Cgt>Agt	p.R190S	WWC1_ENST00000521089.1_Missense_Mutation_p.R190S	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	190					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GTTCAAAGAGCGTGGCTTTCA	0.582																																																	0													101.0	89.0	93.0					5																	167826550		2203	4300	6503	SO:0001583	missense	0			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.568C>A	5.37:g.167826550C>A	ENSP00000265293:p.Arg190Ser		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.R190S	ENST00000265293.4	37	c.568	CCDS4366.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.04|16.04	3.009935|3.009935	0.54361|0.54361	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000393895|ENST00000265293;ENST00000521089	.|T;T	.|0.05139	.|3.5;3.49	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	.|0.741562	.|0.12632	.|N	.|0.452094	T|T	0.07638|0.07638	0.0192|0.0192	L|L	0.27053|0.27053	0.805|0.805	0.31481|0.31481	N|N	0.667234|0.667234	.|B;B;B	.|0.25312	.|0.123;0.022;0.037	.|B;B;B	.|0.28011	.|0.085;0.01;0.025	T|T	0.07347|0.07347	-1.0777|-1.0777	5|10	.|0.52906	.|T	.|0.07	.|.	15.7065|15.7065	0.77588|0.77588	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|190;96;190	.|Q8IX03-2;B3KX05;Q8IX03	.|.;.;KIBRA_HUMAN	E|S	151|190	.|ENSP00000265293:R190S;ENSP00000427772:R190S	.|ENSP00000265293:R190S	A|R	+|+	2|1	0|0	WWC1|WWC1	167759128|167759128	0.858000|0.858000	0.29795|0.29795	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	1.461000|1.461000	0.35255|0.35255	2.415000|2.415000	0.81967|0.81967	0.563000|0.563000	0.77884|0.77884	GCG|CGT	WWC1	-	NULL	ENSG00000113645		0.582	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2		0.00	39	0	C	NM_015238		167826550	+1			no_errors	ENST00000265293	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.999	A
ZCCHC24	219654	genome.wustl.edu	37	10	81145972	81145972	+	3'UTR	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr10:81145972C>T	ENST00000372336.3	-	0	1041				RP11-342M3.5_ENST00000438554.2_RNA|ZCCHC24_ENST00000372333.3_Missense_Mutation_p.G226R	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24								poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						TAAGAGCCCCCGGCCCAGCCC	0.652																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"""Zinc fingers, CCHC domain containing"""	26911	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 8"""		"""chromosome 10 open reading frame 56"""	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.*129G>A	10.37:g.81145972C>T			Q5U5T9|Q8TAG0	Missense_Mutation	SNP	NULL	p.G226R	ENST00000372336.3	37	c.676	CCDS7359.1	10	.	.	.	.	.	.	.	.	.	.	C	7.684	0.689582	0.14973	.	.	ENSG00000165424	ENST00000372333	.	.	.	3.93	1.03	0.20045	.	.	.	.	.	T	0.21590	0.0520	.	.	.	0.09310	N	1	B	0.32893	0.389	B	0.19148	0.024	T	0.15723	-1.0427	7	0.87932	D	0	.	5.5933	0.17313	0.0:0.6508:0.0:0.3492	.	226	Q5W133	.	R	226	.	ENSP00000361408:G226R	G	-	1	0	ZCCHC24	80815978	0.002000	0.14202	0.001000	0.08648	0.017000	0.09413	0.553000	0.23391	0.443000	0.26582	0.655000	0.94253	GGG	ZCCHC24	-	NULL	ENSG00000165424		0.652	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC24	HGNC	protein_coding	OTTHUMT00000048947.1	-	0.00	9	0	C	NM_153367		81145972	-1	tier1	-	no_errors	ENST00000372333	ensembl	human	known	74_37	missense	50.00	8	8	SNP	0.000	T
ZFC3H1	196441	genome.wustl.edu	37	12	72021557	72021558	+	Frame_Shift_Ins	INS	-	-	G	rs200145489		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr12:72021557_72021558insG	ENST00000378743.3	-	21	4461_4462	c.4103_4104insC	c.(4102-4104)gcgfs	p.A1368fs		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1368					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGTACTTGTACGCAAGCTTGAG	0.351																																																	0																																										SO:0001589	frameshift_variant	0			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.4104dupC	12.37:g.72021558_72021558dupG	ENSP00000368017:p.Ala1368fs		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Frame_Shift_Ins	INS	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.Y1369fs	ENST00000378743.3	37	c.4104_4103	CCDS41813.1	12																																																																																			ZFC3H1	-	pfscan_TPR-contain_dom	ENSG00000133858		0.351	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1		0.00	91	0	-	NM_144982		72021558	-1	tier1		no_errors	ENST00000378743	ensembl	human	known	74_37	frame_shift_ins	21.95	64	18	INS	0.896:1.000	G
ZNF266	10781	genome.wustl.edu	37	19	9524911	9524911	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:9524911G>T	ENST00000592904.1	-	5	2766	c.690C>A	c.(688-690)caC>caA	p.H230Q	ZNF266_ENST00000590306.1_Missense_Mutation_p.H230Q|ZNF266_ENST00000361451.2_Missense_Mutation_p.H230Q|ZNF266_ENST00000588221.1_Missense_Mutation_p.H230Q|ZNF266_ENST00000361151.1_Missense_Mutation_p.H230Q|ZNF266_ENST00000592292.1_Missense_Mutation_p.H230Q|ZNF266_ENST00000588933.1_Missense_Mutation_p.H230Q			Q14584	ZN266_HUMAN	zinc finger protein 266	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						GGGTTCCCATGTGAATATTAA	0.428																																																	0													105.0	95.0	98.0					19																	9524911		2203	4300	6503	SO:0001583	missense	0			X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.690C>A	19.37:g.9524911G>T	ENSP00000466714:p.His230Gln		A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H230Q	ENST00000592904.1	37	c.690	CCDS12213.1	19	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385226	0.42308	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	D;D	0.86865	-2.18;-2.18	2.91	-4.6	0.03390	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94499	0.8229	H	0.97158	3.95	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	D	0.89300	0.3625	9	0.87932	D	0	.	10.8829	0.46948	0.7705:0.0:0.2295:0.0	.	230	Q14584	ZN266_HUMAN	Q	230	ENSP00000354680:H230Q;ENSP00000355047:H230Q	ENSP00000355047:H230Q	H	-	3	2	ZNF266	9385911	0.006000	0.16342	0.000000	0.03702	0.110000	0.19582	-0.294000	0.08309	-1.022000	0.03346	-0.266000	0.10368	CAC	ZNF266	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000174652		0.428	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF266	HGNC	protein_coding	OTTHUMT00000449033.1		0.00	69	0	G			9524911	-1			no_errors	ENST00000361151	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.000	T
ZNF354C	30832	genome.wustl.edu	37	5	178506868	178506868	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:178506868C>T	ENST00000315475.6	+	5	1741	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GGCCTTCAGCCAGTATTCATT	0.408																																																	0													85.0	90.0	88.0					5																	178506868		2203	4300	6503	SO:0001587	stop_gained	0				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1435C>T	5.37:g.178506868C>T	ENSP00000324064:p.Gln479*		Q6P4P9|Q8NFX1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q479*	ENST00000315475.6	37	c.1435	CCDS4443.1	5	.	.	.	.	.	.	.	.	.	.	C	38	6.926681	0.97940	.	.	ENSG00000177932	ENST00000315475	.	.	.	4.22	3.27	0.37495	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-16.1381	11.1843	0.48646	0.1838:0.8162:0.0:0.0	.	.	.	.	X	479	.	ENSP00000324064:Q479X	Q	+	1	0	ZNF354C	178439474	0.000000	0.05858	1.000000	0.80357	0.764000	0.43329	0.282000	0.18829	2.330000	0.79161	0.591000	0.81541	CAG	ZNF354C	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000177932		0.408	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354C	HGNC	protein_coding	OTTHUMT00000253473.2	-	0.00	95	0	C			178506868	+1	tier1	-	no_errors	ENST00000315475	ensembl	human	known	74_37	nonsense	19.77	69	17	SNP	0.924	T
ZNF492	57615	genome.wustl.edu	37	19	22847630	22847630	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:22847630C>T	ENST00000456783.2	+	4	1403	c.1159C>T	c.(1159-1161)Cat>Tat	p.H387Y	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TAAGAGAATTCATACTGGAGA	0.378																																																	0													22.0	22.0	22.0					19																	22847630		1564	3528	5092	SO:0001583	missense	0			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1159C>T	19.37:g.22847630C>T	ENSP00000413660:p.His387Tyr		Q08EI7|Q08EI8	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H387Y	ENST00000456783.2	37	c.1159	CCDS46032.1	19	.	.	.	.	.	.	.	.	.	.	.	7.675	0.687727	0.14973	.	.	ENSG00000229676	ENST00000456783	T	0.67523	-0.27	1.12	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84065	0.5390	H	0.95187	3.635	0.32494	N	0.539748	D	0.76494	0.999	D	0.91635	0.999	T	0.83186	-0.0086	9	0.72032	D	0.01	.	7.4251	0.27094	0.0:1.0:0.0:0.0	.	387	Q9P255	ZN492_HUMAN	Y	387	ENSP00000413660:H387Y	ENSP00000413660:H387Y	H	+	1	0	ZNF492	22639470	0.859000	0.29813	0.149000	0.22428	0.151000	0.21798	2.640000	0.46579	0.269000	0.21961	0.274000	0.19336	CAT	ZNF492	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000229676		0.378	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	HGNC	protein_coding	OTTHUMT00000464581.1	-	0.00	77	0	C	NM_020855		22847630	+1	tier1	-	no_errors	ENST00000456783	ensembl	human	known	74_37	missense	23.26	66	20	SNP	0.999	T
ZNF480	147657	genome.wustl.edu	37	19	52825738	52825738	+	Nonsense_Mutation	SNP	C	C	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:52825738C>G	ENST00000595962.1	+	5	1301	c.1235C>G	c.(1234-1236)tCa>tGa	p.S412*	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.S335*|ZNF480_ENST00000334564.7_Nonsense_Mutation_p.S369*	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AATCAACTTTCAAATCTTGCA	0.358																																																	0													76.0	81.0	79.0					19																	52825738		2203	4300	6503	SO:0001587	stop_gained	0			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.1235C>G	19.37:g.52825738C>G	ENSP00000471754:p.Ser412*		Q5JPG9|Q6P0Q4|Q8N1M5	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S412*	ENST00000595962.1	37	c.1235	CCDS12850.2	19	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545806	0.45280	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	.	.	.	2.21	1.08	0.20341	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	5.5947	0.17321	0.2255:0.5539:0.2206:0.0	.	.	.	.	X	412;369;335	.	ENSP00000334164:S369X	S	+	2	0	ZNF480	57517550	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.945000	0.01537	0.229000	0.21039	0.461000	0.40582	TCA	ZNF480	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198464		0.358	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF480	HGNC	protein_coding	OTTHUMT00000349001.3	-	0.00	74	0	C	NM_144684		52825738	+1	tier1	-	no_errors	ENST00000468240	ensembl	human	known	74_37	nonsense	31.43	48	22	SNP	0.074	G
ZNF516	9658	genome.wustl.edu	37	18	74153320	74153320	+	Missense_Mutation	SNP	G	G	A	rs569947953		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr18:74153320G>A	ENST00000443185.2	-	3	2008	c.1691C>T	c.(1690-1692)tCg>tTg	p.S564L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	564					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTGGGAGGCCGAGTCACCCTC	0.736													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11068	0.0		0.0	False		,,,				2504	0.0																0													14.0	18.0	17.0					18																	74153320		2041	4165	6206	SO:0001583	missense	0			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1691C>T	18.37:g.74153320G>A	ENSP00000394757:p.Ser564Leu			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S564L	ENST00000443185.2	37	c.1691		18	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398778	0.62177	.	.	ENSG00000101493	ENST00000443185	T	0.16597	2.33	4.88	4.01	0.46588	.	0.203239	0.33792	N	0.004553	T	0.28699	0.0711	.	.	.	0.42787	D	0.99388	D	0.76494	0.999	P	0.56163	0.793	T	0.03619	-1.1019	9	0.62326	D	0.03	0.1913	6.6691	0.23058	0.1535:0.0:0.7036:0.1429	.	564	Q92618	ZN516_HUMAN	L	564	ENSP00000394757:S564L	ENSP00000394757:S564L	S	-	2	0	ZNF516	72282308	1.000000	0.71417	0.977000	0.42913	0.776000	0.43924	7.185000	0.77714	1.183000	0.42943	0.655000	0.94253	TCG	ZNF516	-	NULL	ENSG00000101493		0.736	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	ZNF516	HGNC	protein_coding			0.00	11	0	G	NM_014643		74153320	-1			no_errors	ENST00000443185	ensembl	human	known	74_37	missense	41.67	7	5	SNP	0.984	A
ZNF607	84775	genome.wustl.edu	37	19	38190339	38190339	+	Silent	SNP	G	G	T			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:38190339G>T	ENST00000355202.4	-	5	1288	c.693C>A	c.(691-693)ggC>ggA	p.G231G	ZNF607_ENST00000395835.3_Silent_p.G230G|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TAAAGGCCTTGCCACATTCCT	0.423																																																	0													82.0	82.0	82.0					19																	38190339		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.693C>A	19.37:g.38190339G>T			F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G231	ENST00000355202.4	37	c.693	CCDS33006.1	19																																																																																			ZNF607	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198182		0.423	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2		0.00	77	0	G	NM_032689		38190339	-1			no_errors	ENST00000355202	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.783	T
ZNF672	79894	genome.wustl.edu	37	1	249142289	249142289	+	Silent	SNP	C	C	G			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:249142289C>G	ENST00000306562.3	+	4	1562	c.816C>G	c.(814-816)cgC>cgG	p.R272R		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGCTGCTGCGCCATCGGCGCA	0.687																																																	0													7.0	6.0	6.0					1																	249142289		2145	4189	6334	SO:0001819	synonymous_variant	0			AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.816C>G	1.37:g.249142289C>G			Q96H65|Q96IM3|Q9H6G5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R272	ENST00000306562.3	37	c.816	CCDS1638.1	1																																																																																			ZNF672	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171161		0.687	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF672	HGNC	protein_coding	OTTHUMT00000097125.2		0.00	8	0	C	NM_024836		249142289	+1			no_errors	ENST00000306562	ensembl	human	known	74_37	silent	27.27	8	3	SNP	0.534	G
ZNF90	7643	genome.wustl.edu	37	19	20190747	20190747	+	Intron	DEL	T	T	-	rs201406331|rs113327735		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:20190747delT	ENST00000418063.2	+	1	115				ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						GTAtttcctcttttttttttt	0.488																																																	0																																										SO:0001627	intron_variant	0			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.3+1803T>-	19.37:g.20190747delT			B9EH87	RNA	DEL	-	NULL	ENST00000418063.2	37	NULL	CCDS46028.1	19																																																																																			ZNF90	-	-	ENSG00000213988		0.488	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1		0.00	16	0	T	NM_007138		20190747	+1	tier1		no_errors	ENST00000492328	ensembl	human	known	74_37	rna	16.67	25	5	DEL	1.000	-
ZSWIM6	57688	genome.wustl.edu	37	5	60768825	60768825	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:60768825G>A	ENST00000252744.5	+	2	994	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	332					neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						ATTAGCAGATGAAATTCTTTC	0.343																																																	0													18.0	15.0	16.0					5																	60768825		692	1589	2281	SO:0001583	missense	0			BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.994G>A	5.37:g.60768825G>A	ENSP00000252744:p.Glu332Lys			Missense_Mutation	SNP	pfscan_Znf_SWIM,prints_Antifreeze_1	p.E332K	ENST00000252744.5	37	c.994	CCDS47215.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.414966	0.96092	.	.	ENSG00000130449	ENST00000252744	T	0.23348	1.91	5.75	5.75	0.90469	.	.	.	.	.	T	0.57621	0.2066	M	0.83774	2.66	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.60063	-0.7336	9	0.72032	D	0.01	-5.7046	19.9149	0.97057	0.0:0.0:1.0:0.0	.	332	Q9HCJ5	ZSWM6_HUMAN	K	332	ENSP00000252744:E332K	ENSP00000252744:E332K	E	+	1	0	ZSWIM6	60804582	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	GAA	ZSWIM6	-	NULL	ENSG00000130449		0.343	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZSWIM6	HGNC	protein_coding	OTTHUMT00000368710.1	-	0.00	35	0	G	NM_020928		60768825	+1	tier1	-	no_errors	ENST00000252744	ensembl	human	novel	74_37	missense	39.13	28	18	SNP	1.000	A
