#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ACACB	32	genome.wustl.edu	37	12	109623483	109623483	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr12:109623483A>G	ENST00000338432.7	+	12	2037	c.1918A>G	c.(1918-1920)Aac>Gac	p.N640D	ACACB_ENST00000377854.5_Missense_Mutation_p.N640D|ACACB_ENST00000377848.3_Missense_Mutation_p.N640D			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	640	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AACCCCCTCAAACCCTCCCCT	0.582																																																	0													60.0	55.0	57.0					12																	109623483		2203	4300	6503	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1918A>G	12.37:g.109623483A>G	ENSP00000341044:p.Asn640Asp		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.N640D	ENST00000338432.7	37	c.1918	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	A	3.957	-0.011029	0.07727	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.95412	-3.7;-3.7;-3.69	5.33	1.51	0.23008	ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);	0.392655	0.32952	N	0.005444	D	0.85974	0.5822	N	0.04320	-0.23	0.09310	N	1	B	0.26120	0.142	B	0.23150	0.044	T	0.78440	-0.2203	10	0.66056	D	0.02	.	7.5219	0.27633	0.66:0.2692:0.0709:0.0	.	640	O00763	ACACB_HUMAN	D	640	ENSP00000341044:N640D;ENSP00000367079:N640D;ENSP00000367085:N640D	ENSP00000341044:N640D	N	+	1	0	ACACB	108107866	0.151000	0.22747	0.000000	0.03702	0.035000	0.12851	2.964000	0.49192	0.070000	0.16634	0.459000	0.35465	AAC	ACACB	-	pfscan_Biotin_carboxylation_dom		0.582	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	A	NM_001093		109623483	+1	no_errors	ENST00000338432	ensembl	human	known	70_37	missense	SNP	0.000	G
ADAMTSL1	92949	genome.wustl.edu	37	9	18776905	18776905	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr9:18776905C>T	ENST00000380548.4	+	19	3017	c.2678C>T	c.(2677-2679)aCg>aTg	p.T893M		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	893	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTCCCCAAGACGGCGGTGGTG	0.677																																																	0													19.0	24.0	22.0					9																	18776905		2038	4169	6207	SO:0001583	missense	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2678C>T	9.37:g.18776905C>T	ENSP00000369921:p.Thr893Met		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.T893M	ENST00000380548.4	37	c.2678	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428690	0.43122	.	.	ENSG00000178031	ENST00000380548	T	0.13196	2.61	5.48	4.58	0.56647	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	100.034000	0.05563	U	0.569659	T	0.37945	0.1022	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	T	0.00069	-1.2137	10	0.66056	D	0.02	.	14.2286	0.65875	0.0:0.9283:0.0:0.0717	.	893	Q8N6G6	ATL1_HUMAN	M	893	ENSP00000369921:T893M	ENSP00000369921:T893M	T	+	2	0	ADAMTSL1	18766905	1.000000	0.71417	0.919000	0.36401	0.035000	0.12851	5.764000	0.68826	1.313000	0.45069	-0.251000	0.11542	ACG	ADAMTSL1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.677	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	C			18776905	+1	no_errors	ENST00000380548	ensembl	human	novel	70_37	missense	SNP	1.000	T
AMY2A	279	genome.wustl.edu	37	1	104160109	104160109	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:104160109A>T	ENST00000414303.2	+	1	111	c.47A>T	c.(46-48)cAg>cTg	p.Q16L		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	16					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		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)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	TGCTGGGCTCAGTATTCCCCA	0.403																																																	0													97.0	82.0	87.0					1																	104160109		2200	4257	6457	SO:0001583	missense	279			BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.47A>T	1.37:g.104160109A>T	ENSP00000397582:p.Gln16Leu		B9EJG1|Q9UBH3	Missense_Mutation	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.Q16L	ENST00000414303.2	37	c.47	CCDS783.1	1	.	.	.	.	.	.	.	.	.	.	a	14.70	2.612356	0.46631	.	.	ENSG00000243480	ENST00000414303;ENST00000393932	.	.	.	3.22	3.22	0.36961	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71626	0.3362	M	0.91717	3.235	0.80722	D	1	P;P	0.52316	0.952;0.952	P;P	0.54965	0.765;0.703	T	0.78984	-0.1988	9	0.87932	D	0	.	11.6147	0.51083	1.0:0.0:0.0:0.0	.	16;16	B9EJG1;P04746	.;AMYP_HUMAN	L	16	.	ENSP00000377509:Q16L	Q	+	2	0	AMY2A	103961632	1.000000	0.71417	0.990000	0.47175	0.192000	0.23643	8.443000	0.90320	1.455000	0.47813	0.374000	0.22700	CAG	AMY2A	-	superfamily_Glycoside_hydrolase_SF		0.403	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2A	HGNC	protein_coding	OTTHUMT00000030315.1	A	NM_000699		104160109	+1	no_errors	ENST00000414303	ensembl	human	known	70_37	missense	SNP	1.000	T
ANK1	286	genome.wustl.edu	37	8	41563760	41563760	+	Splice_Site	SNP	C	C	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr8:41563760C>A	ENST00000347528.4	-	18	2082		c.e18-1		ANK1_ENST00000396942.1_Splice_Site|ANK1_ENST00000396945.1_Splice_Site|ANK1_ENST00000352337.4_Splice_Site|ANK1_ENST00000265709.8_Splice_Site|ANK1_ENST00000379758.2_Splice_Site|ANK1_ENST00000289734.7_Splice_Site	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic						axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGAGTCCGCTCTGCAAAGAAA	0.522																																																	0													65.0	50.0	55.0					8																	41563760		2203	4300	6503	SO:0001630	splice_region_variant	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1999-1G>T	8.37:g.41563760C>A			A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Splice_Site	SNP	-	e18-1	ENST00000347528.4	37	c.1999-1	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769103	0.69992	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.594	0.91224	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANK1	41682917	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.742000	0.85008	2.392000	0.81423	0.561000	0.74099	.	ANK1	-	-		0.522	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	C	NM_020475	Intron	41563760	-1	no_errors	ENST00000396942	ensembl	human	known	70_37	splice_site	SNP	1.000	A
ANK3	288	genome.wustl.edu	37	10	61868601	61868601	+	Missense_Mutation	SNP	C	C	T	rs368218301		TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr10:61868601C>T	ENST00000280772.2	-	27	3351	c.3160G>A	c.(3160-3162)Gca>Aca	p.A1054T	ANK3_ENST00000373827.2_Missense_Mutation_p.A1048T|ANK3_ENST00000355288.2_Missense_Mutation_p.A188T|ANK3_ENST00000503366.1_Missense_Mutation_p.A1055T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1054	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAAAATTGTGCCCCTGCAGGA	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		18456	0.0		0.0	False		,,,				2504	0.001																0													61.0	65.0	64.0					10																	61868601		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3160G>A	10.37:g.61868601C>T	ENSP00000280772:p.Ala1054Thr		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.A1054T	ENST00000280772.2	37	c.3160	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768023	0.90020	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348;ENST00000373815	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	6.04	6.04	0.98038	ZU5 (3);	0.000000	0.41938	D	0.000798	T	0.58192	0.2105	L	0.39020	1.185	0.80722	D	1	P;D;D;D;D;B;D	0.89917	0.712;0.999;1.0;1.0;1.0;0.286;0.997	P;D;D;D;D;B;D	0.91635	0.592;0.999;0.999;0.996;0.983;0.194;0.957	T	0.51631	-0.8681	10	0.42905	T	0.14	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	1055;188;587;1048;1054;289;188	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	T	1054;1048;188;188;1055;1034;289;689;689;187;587;179	ENSP00000280772:A1054T;ENSP00000362933:A1048T;ENSP00000347436:A188T;ENSP00000425236:A1055T;ENSP00000362921:A179T	ENSP00000280772:A1054T	A	-	1	0	ANK3	61538607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	GCA	ANK3	-	pfam_ZU5,smart_ZU5,pfscan_ZU5		0.453	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61868601	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	T
APBA1	320	genome.wustl.edu	37	9	72071269	72071269	+	Missense_Mutation	SNP	C	C	T	rs370688256		TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr9:72071269C>T	ENST00000265381.4	-	8	1904	c.1682G>A	c.(1681-1683)cGg>cAg	p.R561Q	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	561	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						AGGCATCCGCCGGCGGGCCAT	0.577																																																	0								C	GLN/ARG	0,4406		0,0,2203	241.0	229.0	233.0		1682	6.1	1.0	9		233	1,8599	1.2+/-3.3	0,1,4299	no	missense	APBA1	NM_001163.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	561/838	72071269	1,13005	2203	4300	6503	SO:0001583	missense	320			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1682G>A	9.37:g.72071269C>T	ENSP00000265381:p.Arg561Gln		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom	p.R561Q	ENST00000265381.4	37	c.1682	CCDS6630.1	9	.	.	.	.	.	.	.	.	.	.	C	37	6.210077	0.97380	0.0	1.16E-4	ENSG00000107282	ENST00000265381	T	0.21361	2.01	6.06	6.06	0.98353	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.048860	0.85682	D	0.000000	T	0.53514	0.1801	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.54853	-0.8231	10	0.87932	D	0	-15.0519	20.613	0.99472	0.0:1.0:0.0:0.0	.	561	Q02410	APBA1_HUMAN	Q	561	ENSP00000265381:R561Q	ENSP00000265381:R561Q	R	-	2	0	APBA1	71261089	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.686000	0.84128	2.876000	0.98609	0.655000	0.94253	CGG	APBA1	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom		0.577	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA1	HGNC	protein_coding	OTTHUMT00000052589.2	C	NM_001163		72071269	-1	no_errors	ENST00000265381	ensembl	human	known	70_37	missense	SNP	1.000	T
LVRN	206338	genome.wustl.edu	37	5	115351368	115351368	+	Missense_Mutation	SNP	G	G	A	rs199760968		TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr5:115351368G>A	ENST00000357872.4	+	18	2786	c.2662G>A	c.(2662-2664)Gaa>Aaa	p.E888K	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		888						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										CACTTCTAATGAAACAAATAT	0.353																																																	0													80.0	81.0	81.0					5																	115351368		2202	4300	6502	SO:0001583	missense	206338																														ENST00000357872.4:c.2662G>A	5.37:g.115351368G>A	ENSP00000350541:p.Glu888Lys		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.E888K	ENST00000357872.4	37	c.2662	CCDS4124.1	5	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265971	0.59540	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.06849	3.25	5.85	4.95	0.65309	.	0.153195	0.29178	N	0.012905	T	0.17534	0.0421	M	0.63428	1.95	0.54753	D	0.999986	D	0.53312	0.959	P	0.52343	0.696	T	0.00051	-1.2195	10	0.51188	T	0.08	.	12.4621	0.55736	0.0:0.0:0.8341:0.1659	.	888	Q6Q4G3	AMPQ_HUMAN	K	888;877	ENSP00000350541:E888K	ENSP00000350541:E888K	E	+	1	0	AC010282.1	115379267	0.996000	0.38824	0.895000	0.35142	0.163000	0.22366	1.643000	0.37217	2.767000	0.95098	0.563000	0.77884	GAA	AQPEP	-	NULL		0.353	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_genename	protein_coding	OTTHUMT00000250852.1	G			115351368	+1	no_errors	ENST00000357872	ensembl	human	known	70_37	missense	SNP	0.632	A
LVRN	206338	genome.wustl.edu	37	5	115351379	115351379	+	Silent	SNP	A	A	C			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr5:115351379A>C	ENST00000357872.4	+	18	2797	c.2673A>C	c.(2671-2673)atA>atC	p.I891I	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		891						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										AAACAAATATAATTGAGGTTG	0.368																																																	0													77.0	78.0	77.0					5																	115351379		2202	4300	6502	SO:0001819	synonymous_variant	206338																														ENST00000357872.4:c.2673A>C	5.37:g.115351379A>C			A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.I891	ENST00000357872.4	37	c.2673	CCDS4124.1	5																																																																																			AQPEP	-	NULL		0.368	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_genename	protein_coding	OTTHUMT00000250852.1	A			115351379	+1	no_errors	ENST00000357872	ensembl	human	known	70_37	silent	SNP	0.005	C
ATP1A4	480	genome.wustl.edu	37	1	160156142	160156142	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:160156142C>T	ENST00000368081.4	+	21	3517	c.3046C>T	c.(3046-3048)Cgt>Tgt	p.R1016C	ATP1A4_ENST00000470705.1_Missense_Mutation_p.R152C	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	1016				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228). {ECO:0000305}.	ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.R1016S(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTCCTCATCCGTCAGCACCC	0.567																																																	1	Substitution - Missense(1)	lung(1)											174.0	178.0	177.0					1																	160156142		2203	4300	6503	SO:0001583	missense	480			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.3046C>T	1.37:g.160156142C>T	ENSP00000357060:p.Arg1016Cys		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.R1016C	ENST00000368081.4	37	c.3046	CCDS1197.1	1	.	.	.	.	.	.	.	.	.	.	c	15.33	2.802513	0.50315	.	.	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.91180	-2.8;-2.8	4.95	4.03	0.46877	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.89894	0.6847	H	0.96365	3.81	0.58432	D	0.999998	P	0.37141	0.584	B	0.32289	0.143	D	0.91191	0.4984	10	0.72032	D	0.01	.	11.522	0.50558	0.0:0.9124:0.0:0.0876	.	1016	Q13733	AT1A4_HUMAN	C	1016;152	ENSP00000357060:R1016C;ENSP00000433094:R152C	ENSP00000357060:R1016C	R	+	1	0	ATP1A4	158422766	0.997000	0.39634	0.041000	0.18516	0.262000	0.26303	2.943000	0.49026	1.315000	0.45114	0.444000	0.29173	CGT	ATP1A4	-	tigrfam_ATPase_P-typ_cation-ex_asu_euk		0.567	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	HGNC	protein_coding	OTTHUMT00000077415.1	C	NM_144699		160156142	+1	no_errors	ENST00000368081	ensembl	human	known	70_37	missense	SNP	0.989	T
BCAS3	54828	genome.wustl.edu	37	17	59155836	59155836	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr17:59155836C>T	ENST00000390652.5	+	22	2349	c.2318C>T	c.(2317-2319)aCg>aTg	p.T773M	BCAS3_ENST00000407086.3_Missense_Mutation_p.T758M|BCAS3_ENST00000588874.1_Missense_Mutation_p.T529M|BCAS3_ENST00000589222.1_Missense_Mutation_p.T758M|BCAS3_ENST00000588462.1_Missense_Mutation_p.T773M|BCAS3_ENST00000585744.1_Missense_Mutation_p.T544M|BCAS3_ENST00000408905.3_Missense_Mutation_p.T758M	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCGAGTGACACGCCACAGCCT	0.433																																																	0													125.0	115.0	118.0					17																	59155836		1996	4169	6165	SO:0001583	missense	54828			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.2318C>T	17.37:g.59155836C>T	ENSP00000375067:p.Thr773Met			Missense_Mutation	SNP	pfam_BCAS3,pfam_WD40_repeat	p.T773M	ENST00000390652.5	37	c.2318	CCDS45749.1	17	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362933	0.61403	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000408905	T;T;T	0.34072	1.41;1.39;1.38	5.31	5.31	0.75309	.	0.231642	0.43747	D	0.000522	T	0.39358	0.1075	L	0.36672	1.1	0.46849	D	0.999223	D;D;D;P;P	0.57571	0.969;0.969;0.98;0.938;0.923	P;B;P;P;B	0.47251	0.503;0.401;0.503;0.542;0.407	T	0.25606	-1.0127	10	0.59425	D	0.04	.	19.3441	0.94356	0.0:1.0:0.0:0.0	.	758;773;758;773;758	Q9H6U6-3;Q9H6U6-8;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;BCAS3_HUMAN;.	M	773;758;758	ENSP00000375067:T773M;ENSP00000385323:T758M;ENSP00000386173:T758M	ENSP00000375067:T773M	T	+	2	0	BCAS3	56510618	0.998000	0.40836	1.000000	0.80357	0.805000	0.45488	3.669000	0.54561	2.658000	0.90341	0.585000	0.79938	ACG	BCAS3	-	NULL		0.433	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAS3	HGNC	protein_coding	OTTHUMT00000449578.1	C	NM_017679		59155836	+1	no_errors	ENST00000390652	ensembl	human	known	70_37	missense	SNP	1.000	T
C1orf112	55732	genome.wustl.edu	37	1	169798416	169798416	+	Silent	SNP	C	C	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:169798416C>T	ENST00000286031.6	+	13	1840	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Silent_p.L380L|C1orf112_ENST00000413811.2_Missense_Mutation_p.S308L	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	380								p.L380L(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TATCTCTACTCAAAGCCGTTT	0.368																																																	1	Substitution - coding silent(1)	lung(1)											121.0	118.0	119.0					1																	169798416		2203	4300	6503	SO:0001819	synonymous_variant	55732			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1140C>T	1.37:g.169798416C>T			A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	NULL	p.S308L	ENST00000286031.6	37	c.923	CCDS1285.1	1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885867	0.51908	.	.	ENSG00000000460	ENST00000413811	T	0.44881	0.91	5.78	1.21	0.21127	.	.	.	.	.	T	0.08670	0.0215	.	.	.	0.18873	N	0.999981	B	0.02656	0.0	B	0.01281	0.0	T	0.36648	-0.9739	7	.	.	.	-6.3509	5.8291	0.18570	0.0:0.4973:0.2791:0.2236	.	308	B4E0A9	.	L	308	ENSP00000389257:S308L	.	S	+	2	0	C1orf112	168065040	0.984000	0.35163	0.998000	0.56505	0.984000	0.73092	0.351000	0.20096	0.346000	0.23899	0.563000	0.77884	TCA	C1orf112	-	NULL		0.368	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf112	HGNC	protein_coding	OTTHUMT00000087126.3	C	NM_018186		169798416	+1	no_errors	ENST00000413811	ensembl	human	known	70_37	missense	SNP	0.950	T
CADPS2	93664	genome.wustl.edu	37	7	122255280	122255280	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr7:122255280T>C	ENST00000449022.2	-	6	1197	c.1178A>G	c.(1177-1179)gAa>gGa	p.E393G	CADPS2_ENST00000412584.2_Missense_Mutation_p.E393G|CADPS2_ENST00000313070.7_Missense_Mutation_p.E393G|CADPS2_ENST00000334010.7_Missense_Mutation_p.E393G	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	393	C2.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTTTTCTCCTTCCACTTCCAT	0.373																																																	0													74.0	68.0	70.0					7																	122255280		1869	4100	5969	SO:0001583	missense	93664				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1178A>G	7.37:g.122255280T>C	ENSP00000398481:p.Glu393Gly		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E393G	ENST00000449022.2	37	c.1178	CCDS55158.1	7	.	.	.	.	.	.	.	.	.	.	T	28.7	4.943758	0.92593	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.59	5.59	0.84812	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.77651	0.4162	M	0.68952	2.095	0.58432	D	0.999993	D;D;D	0.76494	0.969;0.999;0.999	P;D;D	0.78314	0.709;0.986;0.991	T	0.80238	-0.1465	10	0.87932	D	0	-21.1829	15.7642	0.78114	0.0:0.0:0.0:1.0	.	393;393;393	Q86UW7-2;Q86UW7;Q86UW7-3	.;CAPS2_HUMAN;.	G	393;393;393;360;393;393	ENSP00000325581:E393G;ENSP00000333940:E393G;ENSP00000400401:E393G;ENSP00000398481:E393G	ENSP00000325581:E393G	E	-	2	0	CADPS2	122042516	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.013000	0.88655	2.136000	0.66102	0.533000	0.62120	GAA	CADPS2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.373	CADPS2-001	KNOWN	basic|CCDS	protein_coding	CADPS2	HGNC	protein_coding	OTTHUMT00000347414.2	T	NM_017954		122255280	-1	no_errors	ENST00000449022	ensembl	human	known	70_37	missense	SNP	1.000	C
CDKN2AIP	55602	genome.wustl.edu	37	4	184367413	184367413	+	Silent	SNP	G	G	C			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr4:184367413G>C	ENST00000504169.1	+	3	783	c.576G>C	c.(574-576)cgG>cgC	p.R192R	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	192	Ser-rich.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		ACTCAGCTCGGAGCTCTGGCA	0.507																																																	0													92.0	90.0	91.0					4																	184367413		2203	4300	6503	SO:0001819	synonymous_variant	55602			AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.576G>C	4.37:g.184367413G>C			Q8TBM5|Q9NYH0	Silent	SNP	pfam_DUF3469,pfscan_Ds-RNA-bd	p.R192	ENST00000504169.1	37	c.576	CCDS34110.1	4																																																																																			CDKN2AIP	-	NULL		0.507	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN2AIP	HGNC	protein_coding	OTTHUMT00000361488.1	G	NM_017632		184367413	+1	no_errors	ENST00000504169	ensembl	human	known	70_37	silent	SNP	0.316	C
CLIC5	53405	genome.wustl.edu	37	6	45909283	45909283	+	Splice_Site	SNP	C	C	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr6:45909283C>T	ENST00000185206.6	-	4	1036		c.e4+1		CLIC5_ENST00000544153.1_Splice_Site|CLIC5_ENST00000339561.6_Splice_Site	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5						auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						GAGTCACTCACCAGCATTGTT	0.488																																																	0													196.0	185.0	189.0					6																	45909283		2203	4300	6503	SO:0001630	splice_region_variant	53405			AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.883+1G>A	6.37:g.45909283C>T			B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Splice_Site	SNP	-	e4+1	ENST00000185206.6	37	c.883+1	CCDS47438.1	6	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762227	0.89932	.	.	ENSG00000112782	ENST00000185206;ENST00000339561;ENST00000544153	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7617	0.88466	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLIC5	46017261	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.544000	0.82117	2.489000	0.83994	0.563000	0.77884	.	CLIC5	-	-		0.488	CLIC5-002	KNOWN	basic|CCDS	protein_coding	CLIC5	HGNC	protein_coding	OTTHUMT00000040761.1	C		Intron	45909283	-1	no_errors	ENST00000185206	ensembl	human	known	70_37	splice_site	SNP	1.000	T
COL22A1	169044	genome.wustl.edu	37	8	139790622	139790622	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr8:139790622C>T	ENST00000303045.6	-	15	2178	c.1732G>A	c.(1732-1734)Gga>Aga	p.G578R	COL22A1_ENST00000435777.1_Missense_Mutation_p.G578R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	578	Collagen-like 3.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGAGGTCCGGGGAGTCCA	0.547										HNSCC(7;0.00092)																																							0													44.0	47.0	46.0					8																	139790622		2203	4300	6503	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1732G>A	8.37:g.139790622C>T	ENSP00000303153:p.Gly578Arg		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.G578R	ENST00000303045.6	37	c.1732	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	C	7.101	0.574139	0.13623	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000522546	D;D;D	0.99637	-5.77;-5.53;-6.29	4.97	4.97	0.65823	.	0.273316	0.25439	N	0.030669	D	0.99782	0.9909	H	0.98559	4.265	0.24783	N	0.992804	D	0.76494	0.999	D	0.71656	0.974	D	0.97357	0.9967	10	0.87932	D	0	.	13.9394	0.64046	0.0:1.0:0.0:0.0	.	578	Q8NFW1	COMA1_HUMAN	R	578;578;28	ENSP00000303153:G578R;ENSP00000387655:G578R;ENSP00000428244:G28R	ENSP00000303153:G578R	G	-	1	0	COL22A1	139859804	0.961000	0.32948	0.197000	0.23402	0.125000	0.20455	3.260000	0.51523	2.756000	0.94617	0.655000	0.94253	GGA	COL22A1	-	NULL		0.547	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	C	XM_291257		139790622	-1	no_errors	ENST00000303045	ensembl	human	known	70_37	missense	SNP	0.218	T
COMMD4	54939	genome.wustl.edu	37	15	75632155	75632155	+	Silent	SNP	A	A	C			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr15:75632155A>C	ENST00000267935.8	+	7	694	c.495A>C	c.(493-495)ccA>ccC	p.P165P	COMMD4_ENST00000562789.1_Intron|COMMD4_ENST00000564815.1_Silent_p.P143P|COMMD4_ENST00000567195.1_Intron|COMMD4_ENST00000338995.6_Intron	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	165	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.					cytoplasm (GO:0005737)				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						CAGCTGCCCCAGGGACCCCAG	0.652																																																	0													38.0	41.0	40.0					15																	75632155		2197	4294	6491	SO:0001819	synonymous_variant	54939			AY542160	CCDS10277.1, CCDS66834.1, CCDS66835.1, CCDS73764.1	15q24.2	2012-09-20			ENSG00000140365	ENSG00000140365			26027	protein-coding gene	gene with protein product						15799966	Standard	XM_005254511		Approved	FLJ20452	uc002azy.3	Q9H0A8	OTTHUMG00000142823	ENST00000267935.8:c.495A>C	15.37:g.75632155A>C			B2RBN4|H3BUL2|Q7L637|Q9NX43	Silent	SNP	pfam_HCaRG	p.P165	ENST00000267935.8	37	c.495	CCDS10277.1	15																																																																																			COMMD4	-	pfam_HCaRG		0.652	COMMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD4	HGNC	protein_coding	OTTHUMT00000286414.1	A	NM_017828		75632155	+1	no_errors	ENST00000267935	ensembl	human	known	70_37	silent	SNP	0.102	C
CSH2	1443	genome.wustl.edu	37	17	61950693	61950693	+	Missense_Mutation	SNP	C	C	T	rs569109978		TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr17:61950693C>T	ENST00000392886.2	-	2	168	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	CSH2_ENST00000345366.7_Missense_Mutation_p.R6Q|CSH2_ENST00000560142.1_Missense_Mutation_p.R6Q|CSH2_ENST00000336844.5_Missense_Mutation_p.R6Q	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	6						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						CAGGGACGTCCGGGAGCCTGG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		19602	0.0		0.0	False		,,,				2504	0.001																0													12.0	13.0	13.0					17																	61950693		2185	4252	6437	SO:0001583	missense	1443			V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.17G>A	17.37:g.61950693C>T	ENSP00000376623:p.Arg6Gln		P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.R6Q	ENST00000392886.2	37	c.17	CCDS42369.1	17	.	.	.	.	.	.	.	.	.	.	c	9.480	1.097920	0.20552	.	.	ENSG00000213218	ENST00000345366;ENST00000336844;ENST00000392886	D;D;D	0.91068	-2.78;-2.1;-2.28	4.1	-5.18	0.02840	.	0.628574	0.16367	N	0.217506	T	0.79633	0.4479	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.22080	0.0;0.064;0.0;0.014	B;B;B;B	0.14023	0.0;0.006;0.0;0.01	T	0.63065	-0.6720	10	0.26408	T	0.33	.	10.3773	0.44090	0.0:0.429:0.0:0.571	.	6;6;6;6	P01243;A6NIT4;A8K6C2;B1A4H9	CSH_HUMAN;.;.;.	Q	6	ENSP00000308396:R6Q;ENSP00000338816:R6Q;ENSP00000376623:R6Q	ENSP00000338816:R6Q	R	-	2	0	CSH2	59304425	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.696000	0.05104	-1.029000	0.03317	-2.873000	0.00099	CGG	CSH2	-	NULL		0.607	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSH2	HGNC	protein_coding	OTTHUMT00000417657.1	C	NM_020991		61950693	-1	no_errors	ENST00000392886	ensembl	human	known	70_37	missense	SNP	0.000	T
CTNNBL1	56259	genome.wustl.edu	37	20	36470756	36470756	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr20:36470756G>C	ENST00000361383.6	+	13	1444	c.1327G>C	c.(1327-1329)Gag>Cag	p.E443Q	CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.E191Q|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.E256Q|CTNNBL1_ENST00000405275.2_Missense_Mutation_p.E416Q	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	443					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CAGACTAATGGAGTTGCATTT	0.448																																					Ovarian(184;582 2038 3273 4106 42608)												0													153.0	123.0	133.0					20																	36470756		2203	4300	6503	SO:0001583	missense	56259			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1327G>C	20.37:g.36470756G>C	ENSP00000355050:p.Glu443Gln		B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	pfam_DUF1716_euk,superfamily_ARM-type_fold	p.E416Q	ENST00000361383.6	37	c.1246	CCDS13298.1	20	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464936	0.84425	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473;ENST00000373469	T;T;T;T	0.53206	0.73;0.73;0.63;0.63	5.12	5.12	0.69794	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68860	0.3047	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.72211	-0.4359	10	0.66056	D	0.02	-19.6517	17.5716	0.87935	0.0:0.0:1.0:0.0	.	443;256	Q8WYA6;Q8WYA6-2	CTBL1_HUMAN;.	Q	443;416;256;191	ENSP00000355050:E443Q;ENSP00000384355:E416Q;ENSP00000362572:E256Q;ENSP00000362568:E191Q	ENSP00000355050:E443Q	E	+	1	0	CTNNBL1	35904170	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.090000	0.94144	2.391000	0.81399	0.650000	0.86243	GAG	CTNNBL1	-	superfamily_ARM-type_fold		0.448	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CTNNBL1	HGNC	protein_coding	OTTHUMT00000079125.1	G	NM_030877		36470756	+1	no_errors	ENST00000405275	ensembl	human	known	70_37	missense	SNP	1.000	C
CYFIP1	23191	genome.wustl.edu	37	15	22990123	22990123	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr15:22990123C>T	ENST00000313077.7	+	24	2868	c.2743C>T	c.(2743-2745)Caa>Taa	p.Q915*	CYFIP1_ENST00000435939.2_Nonsense_Mutation_p.Q484*|CYFIP1_ENST00000560848.1_Nonsense_Mutation_p.Q915*	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCCACACTTTCAAGTCATCTG	0.562																																																	0													100.0	93.0	96.0					15																	22990123		2203	4300	6503	SO:0001587	stop_gained	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2743C>T	15.37:g.22990123C>T	ENSP00000324549:p.Gln915*			Nonsense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.Q915*	ENST00000313077.7	37	c.2743	CCDS10009.1	15	.	.	.	.	.	.	.	.	.	.	C	39	7.719164	0.98450	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	.	.	.	4.8	3.82	0.43975	.	0.346161	0.25628	N	0.029375	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7872	10.5438	0.45047	0.5664:0.4336:0.0:0.0	.	.	.	.	X	915;943;484	.	ENSP00000324549:Q915X	Q	+	1	0	CYFIP1	20541564	1.000000	0.71417	0.996000	0.52242	0.583000	0.36354	4.586000	0.60984	1.083000	0.41159	0.563000	0.77884	CAA	CYFIP1	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub		0.562	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	C	NM_014608		22990123	+1	no_errors	ENST00000313077	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DACT1	51339	genome.wustl.edu	37	14	59112964	59112964	+	Silent	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr14:59112964G>A	ENST00000335867.4	+	4	1647	c.1623G>A	c.(1621-1623)aaG>aaA	p.K541K	DACT1_ENST00000395153.3_Silent_p.K504K|DACT1_ENST00000541264.2_Silent_p.K260K|DACT1_ENST00000556859.1_Silent_p.K260K			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	541					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGGATTTCAAGAGCGAGGGCT	0.627																																																	0													46.0	54.0	51.0					14																	59112964		2203	4300	6503	SO:0001819	synonymous_variant	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1623G>A	14.37:g.59112964G>A			A8MYJ2|Q86TY0	Silent	SNP	NULL	p.K541	ENST00000335867.4	37	c.1623	CCDS9736.1	14																																																																																			DACT1	-	NULL		0.627	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	HGNC	protein_coding	OTTHUMT00000325515.1	G	NM_016651		59112964	+1	no_errors	ENST00000335867	ensembl	human	known	70_37	silent	SNP	0.992	A
DEPDC1	55635	genome.wustl.edu	37	1	68954150	68954152	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:68954150_68954152delCTT	ENST00000456315.2	-	5	740_742	c.626_628delAAG	c.(625-630)gaagtc>gtc	p.E209del	DEPDC1_ENST00000370966.5_In_Frame_Del_p.E209del	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	209					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		GGATTTATGACTTCTTCTAGGGA	0.305																																																	0																																										SO:0001651	inframe_deletion	55635			AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.626_628delAAG	1.37:g.68954153_68954155delCTT	ENSP00000412292:p.Glu209del		A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	In_Frame_Del	DEL	pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom	p.E209in_frame_del	ENST00000456315.2	37	c.628_626	CCDS44159.1	1																																																																																			DEPDC1	-	NULL		0.305	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEPDC1	HGNC	protein_coding	OTTHUMT00000025514.2	CTT	NM_017779		68954152	-1	no_errors	ENST00000456315	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-
DNAAF2	55172	genome.wustl.edu	37	14	50100351	50100351	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr14:50100351G>T	ENST00000298292.8	-	1	1597	c.1517C>A	c.(1516-1518)tCa>tAa	p.S506*	DNAAF2_ENST00000406043.3_Nonsense_Mutation_p.S506*	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	506					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						GGCGCAGGCTGAGCGCTGGCC	0.622																																																	0													26.0	25.0	25.0					14																	50100351		2203	4300	6503	SO:0001587	stop_gained	55172			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1517C>A	14.37:g.50100351G>T	ENSP00000298292:p.Ser506*		B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Nonsense_Mutation	SNP	pfam_PIH	p.S506*	ENST00000298292.8	37	c.1517	CCDS9691.2	14	.	.	.	.	.	.	.	.	.	.	G	34	5.328503	0.95733	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	.	.	.	4.64	1.22	0.21188	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3309	0.11062	0.2386:0.349:0.4123:0.0	.	.	.	.	X	506	.	ENSP00000298292:S506X	S	-	2	0	DNAAF2	49170101	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.341000	0.19909	0.129000	0.18514	0.555000	0.69702	TCA	DNAAF2	-	NULL		0.622	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAAF2	HGNC	protein_coding	OTTHUMT00000276813.1	G			50100351	-1	no_errors	ENST00000298292	ensembl	human	known	70_37	nonsense	SNP	0.000	T
DNAH3	55567	genome.wustl.edu	37	16	21147833	21147833	+	Splice_Site	SNP	C	C	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr16:21147833C>T	ENST00000261383.3	-	6	697	c.698G>A	c.(697-699)aGa>aAa	p.R233K	DNAH3_ENST00000415178.1_Splice_Site_p.R233K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	233	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTAATAGTATCTCTTCCATAA	0.458																																																	0													136.0	130.0	132.0					16																	21147833		2201	4300	6501	SO:0001630	splice_region_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.697-1G>A	16.37:g.21147833C>T			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.R233K	ENST00000261383.3	37	c.698	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088426	0.55968	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.30981	1.55;1.51	5.63	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	M	0.71206	2.165	0.47341	D	0.99939	D;D	0.89917	0.999;1.0	P;D	0.91635	0.901;0.999	T	0.56577	-0.7956	10	0.45353	T	0.12	.	15.4864	0.75571	0.0:0.8606:0.1394:0.0	.	233;204	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	K	233;233;204	ENSP00000261383:R233K;ENSP00000394245:R233K	ENSP00000261383:R233K	R	-	2	0	DNAH3	21055334	1.000000	0.71417	0.997000	0.53966	0.312000	0.27988	3.811000	0.55620	1.371000	0.46172	-0.176000	0.13171	AGA	DNAH3	-	NULL		0.458	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	C	NM_017539	Missense_Mutation	21147833	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	missense	SNP	1.000	T
DYNC1LI1	51143	genome.wustl.edu	37	3	32587353	32587353	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr3:32587353C>T	ENST00000273130.4	-	3	428	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	DYNC1LI1_ENST00000432458.2_Intron	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	109					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TCCCTGTCTTCATCATGCACA	0.338																																																	0													191.0	188.0	189.0					3																	32587353		2203	4300	6503	SO:0001583	missense	51143			AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.325G>A	3.37:g.32587353C>T	ENSP00000273130:p.Glu109Lys		A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP	pfam_Dynein_light_int_chain	p.E109K	ENST00000273130.4	37	c.325	CCDS2654.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.326060	0.95708	.	.	ENSG00000144635	ENST00000273130;ENST00000413350;ENST00000424991	T;T;T	0.27557	1.66;1.66;2.1	5.47	5.47	0.80525	.	0.043072	0.85682	D	0.000000	T	0.42359	0.1199	M	0.67517	2.055	0.80722	D	1	B	0.29212	0.237	B	0.36092	0.217	T	0.39742	-0.9599	10	0.87932	D	0	-24.1345	19.6979	0.96034	0.0:1.0:0.0:0.0	.	109	Q9Y6G9	DC1L1_HUMAN	K	109;58;150	ENSP00000273130:E109K;ENSP00000390507:E58K;ENSP00000409019:E150K	ENSP00000273130:E109K	E	-	1	0	DYNC1LI1	32562357	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.445000	0.80570	2.728000	0.93425	0.591000	0.81541	GAA	DYNC1LI1	-	pfam_Dynein_light_int_chain		0.338	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI1	HGNC	protein_coding	OTTHUMT00000253250.1	C	NM_016141		32587353	-1	no_errors	ENST00000273130	ensembl	human	known	70_37	missense	SNP	1.000	T
EFTUD2	9343	genome.wustl.edu	37	17	42930947	42930947	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr17:42930947G>A	ENST00000426333.2	-	24	2701	c.2404C>T	c.(2404-2406)Cac>Tac	p.H802Y	EFTUD2_ENST00000402521.3_Missense_Mutation_p.H767Y|EFTUD2_ENST00000592576.1_Missense_Mutation_p.H792Y|EFTUD2_ENST00000591382.1_Missense_Mutation_p.H802Y	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	802					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCGCCCCGGTGCAGGGGCTCC	0.592																																					Ovarian(10;65 485 10258 29980 30707)												0													41.0	41.0	41.0					17																	42930947		2203	4300	6503	SO:0001583	missense	9343			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2404C>T	17.37:g.42930947G>A	ENSP00000392094:p.His802Tyr		B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.H802Y	ENST00000426333.2	37	c.2404	CCDS11489.1	17	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693720	0.30052	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.34859	1.34;1.34	4.68	4.68	0.58851	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.37999	0.1024	L	0.56340	1.77	0.80722	D	1	B;B	0.17038	0.02;0.009	B;B	0.23852	0.049;0.029	T	0.17961	-1.0352	10	0.33940	T	0.23	-20.8358	17.7902	0.88550	0.0:0.0:1.0:0.0	.	792;802	B4DMC0;Q15029	.;U5S1_HUMAN	Y	802;792;767	ENSP00000392094:H802Y;ENSP00000385873:H767Y	ENSP00000262414:H792Y	H	-	1	0	EFTUD2	40286473	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.263000	0.95617	2.426000	0.82243	0.563000	0.77884	CAC	EFTUD2	-	pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV		0.592	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	HGNC	protein_coding	OTTHUMT00000448672.1	G	NM_004247		42930947	-1	no_errors	ENST00000426333	ensembl	human	known	70_37	missense	SNP	1.000	A
EIF2S1	1965	genome.wustl.edu	37	14	67850056	67850056	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr14:67850056G>A	ENST00000256383.4	+	8	1308	c.847G>A	c.(847-849)Gag>Aag	p.E283K	EIF2S1_ENST00000466499.2_Missense_Mutation_p.E283K	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	283					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)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		AGATACAGATGAGACTGAACT	0.393																																																	0													89.0	79.0	82.0					14																	67850056		2203	4300	6503	SO:0001583	missense	1965			J02645	CCDS9781.1	14q21.3	2011-01-07	2002-08-29		ENSG00000134001	ENSG00000134001			3265	protein-coding gene	gene with protein product		603907	"""eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )"""	EIF2		2948954	Standard	NM_004094		Approved	EIF-2alpha, EIF2A	uc001xjg.3	P05198	OTTHUMG00000029800	ENST00000256383.4:c.847G>A	14.37:g.67850056G>A	ENSP00000256383:p.Glu283Lys			Missense_Mutation	SNP	pfam_TIF_2_asu,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_TIF2_asu_C,superfamily_TIF2_asu_middle,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.E283K	ENST00000256383.4	37	c.847	CCDS9781.1	14	.	.	.	.	.	.	.	.	.	.	G	37	6.025978	0.97216	.	.	ENSG00000134001	ENST00000256383;ENST00000466499	.	.	.	6.17	6.17	0.99709	Translation initiation factor 2, alpha subunit, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.82462	0.5042	M	0.79926	2.475	0.80722	D	1	P	0.52692	0.955	P	0.59424	0.857	T	0.82845	-0.0256	9	0.87932	D	0	-14.8316	20.8794	0.99867	0.0:0.0:1.0:0.0	.	283	P05198	IF2A_HUMAN	K	283	.	ENSP00000256383:E283K	E	+	1	0	EIF2S1	66919809	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAG	EIF2S1	-	superfamily_TIF2_asu_C		0.393	EIF2S1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S1	HGNC	protein_coding	OTTHUMT00000074342.3	G	NM_004094		67850056	+1	no_errors	ENST00000256383	ensembl	human	known	70_37	missense	SNP	1.000	A
ENOX2	10495	genome.wustl.edu	37	X	129769012	129769012	+	Silent	SNP	T	T	C			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chrX:129769012T>C	ENST00000370927.1	-	10	1473	c.1452A>G	c.(1450-1452)aaA>aaG	p.K484K	ENOX2_ENST00000370935.1_Silent_p.K455K|ENOX2_ENST00000394363.1_Silent_p.K455K|ENOX2_ENST00000338144.3_Silent_p.K484K			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	484					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CATCTTTGAGTTTTTCAAGTT	0.363																																					Ovarian(101;828 1506 2951 9500 35258)												0													114.0	98.0	103.0					X																	129769012		2203	4299	6502	SO:0001819	synonymous_variant	10495			AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1452A>G	X.37:g.129769012T>C			A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K484	ENST00000370927.1	37	c.1452	CCDS14626.1	X																																																																																			ENOX2	-	NULL		0.363	ENOX2-004	KNOWN	basic|CCDS	protein_coding	ENOX2	HGNC	protein_coding	OTTHUMT00000058277.1	T	NM_182314		129769012	-1	no_errors	ENST00000338144	ensembl	human	known	70_37	silent	SNP	0.988	C
GPM6A	2823	genome.wustl.edu	37	4	176733194	176733194	+	Intron	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr4:176733194G>A	ENST00000280187.7	-	2	83				RP11-806K15.1_ENST00000514864.1_RNA|GPM6A_ENST00000393658.2_Intron|GPM6A_ENST00000506894.1_Intron	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A						neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		AGACATTACTGCAAGTGAGGA	0.398																																																	0																																										SO:0001627	intron_variant	0				CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.37+147C>T	4.37:g.176733194G>A			B7Z642|E9PHI5|Q92602	RNA	SNP	-	NULL	ENST00000280187.7	37	NULL	CCDS3824.1	4																																																																																			RP11-806K15.1	-	-		0.398	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000249106	Clone_based_vega_gene	protein_coding	OTTHUMT00000362163.1	G			176733194	+1	no_errors	ENST00000514864	ensembl	human	known	70_37	rna	SNP	0.005	A
NIN	51199	genome.wustl.edu	37	14	51290144	51290144	+	Intron	SNP	C	C	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr14:51290144C>A	ENST00000382041.3	-	3	170				NIN_ENST00000389868.3_Intron|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Intron|NIN_ENST00000245441.5_Intron|NIN_ENST00000453196.1_Intron|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000530997.2_5'Flank	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)						centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ATCGTCCATACGGCAGATCAT	0.368			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0																																										SO:0001627	intron_variant	0			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.21-1349G>T	14.37:g.51290144C>A			A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	RNA	SNP	-	NULL	ENST00000382041.3	37	NULL	CCDS32079.1	14																																																																																			RP11-286O18.1	-	-		0.368	NIN-016	KNOWN	basic|CCDS	protein_coding	ENSG00000258843	Clone_based_vega_gene	protein_coding	OTTHUMT00000395207.2	C	NM_182946		51290144	+1	no_errors	ENST00000555966	ensembl	human	known	70_37	rna	SNP	0.000	A
FGD2	221472	genome.wustl.edu	37	6	36979601	36979601	+	Silent	SNP	C	C	T	rs181839126		TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr6:36979601C>T	ENST00000274963.8	+	4	669	c.498C>T	c.(496-498)ctC>ctT	p.L166L		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	166	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGTTCTTCCTCCCAGAGCTGC	0.617																																																	0													117.0	87.0	97.0					6																	36979601		2203	4300	6503	SO:0001819	synonymous_variant	221472			AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.498C>T	6.37:g.36979601C>T			Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Silent	SNP	pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.L166	ENST00000274963.8	37	c.498	CCDS4829.1	6																																																																																			FGD2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.617	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD2	HGNC	protein_coding	OTTHUMT00000040398.2	C	NM_173558		36979601	+1	no_errors	ENST00000274963	ensembl	human	known	70_37	silent	SNP	1.000	T
FOXO4	4303	genome.wustl.edu	37	X	70321381	70321381	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chrX:70321381T>C	ENST00000374259.3	+	2	1633	c.1301T>C	c.(1300-1302)aTa>aCa	p.I434T	FOXO4_ENST00000341558.3_Missense_Mutation_p.I379T	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	434					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					CTTTCTATGATAGCACCACCT	0.617																																																	0													62.0	62.0	62.0					X																	70321381		1945	4127	6072	SO:0001583	missense	4303				CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.1301T>C	X.37:g.70321381T>C	ENSP00000363377:p.Ile434Thr		B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.I434T	ENST00000374259.3	37	c.1301	CCDS43969.1	X	.	.	.	.	.	.	.	.	.	.	T	3.606	-0.080622	0.07141	.	.	ENSG00000184481	ENST00000374259;ENST00000341558	D;D	0.95307	-3.44;-3.67	5.05	5.05	0.67936	.	1.083580	0.07181	N	0.854045	D	0.90055	0.6894	L	0.29908	0.895	0.09310	N	1	B;B	0.22211	0.066;0.039	B;B	0.15870	0.014;0.006	T	0.75051	-0.3454	10	0.09338	T	0.73	-22.6855	13.0186	0.58773	0.0:0.0:0.0:1.0	.	379;434	P98177-2;P98177	.;FOXO4_HUMAN	T	434;379	ENSP00000363377:I434T;ENSP00000342209:I379T	ENSP00000342209:I379T	I	+	2	0	FOXO4	70238106	0.006000	0.16342	0.216000	0.23742	0.901000	0.52897	0.492000	0.22435	1.867000	0.54127	0.486000	0.48141	ATA	FOXO4	-	NULL		0.617	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO4	HGNC	protein_coding	OTTHUMT00000057115.1	T	NM_005938		70321381	+1	no_errors	ENST00000374259	ensembl	human	known	70_37	missense	SNP	0.258	C
GCG	2641	genome.wustl.edu	37	2	163002166	163002166	+	Silent	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr2:163002166G>A	ENST00000418842.2	-	4	530	c.276C>T	c.(274-276)caC>caT	p.H92H	GCG_ENST00000375497.3_Silent_p.H92H	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	92		Cleavage; by PCSK1.			adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						CAAATTCATCGTGACGTTTGG	0.408																																																	0													220.0	216.0	218.0					2																	163002166		1893	4119	6012	SO:0001819	synonymous_variant	2641				CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.276C>T	2.37:g.163002166G>A			A6NN65|Q53TP6	Silent	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP	p.H92	ENST00000418842.2	37	c.276	CCDS46439.1	2																																																																																			GCG	-	NULL		0.408	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCG	HGNC	protein_coding	OTTHUMT00000332860.1	G	NM_002054		163002166	-1	no_errors	ENST00000375497	ensembl	human	known	70_37	silent	SNP	0.995	A
GPT2	84706	genome.wustl.edu	37	16	46943727	46943727	+	Silent	SNP	C	C	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr16:46943727C>T	ENST00000340124.4	+	6	820	c.708C>T	c.(706-708)gaC>gaT	p.D236D	GPT2_ENST00000440783.2_Silent_p.D136D	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	236					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	ACTACCTGGACGAGGAGAACT	0.552																																																	0													93.0	86.0	89.0					16																	46943727		2203	4300	6503	SO:0001819	synonymous_variant	84706				CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.708C>T	16.37:g.46943727C>T			Q8N9E2	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.D236	ENST00000340124.4	37	c.708	CCDS10725.1	16																																																																																			GPT2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.552	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT2	HGNC	protein_coding	OTTHUMT00000255741.2	C			46943727	+1	no_errors	ENST00000340124	ensembl	human	known	70_37	silent	SNP	0.999	T
GUCY2F	2986	genome.wustl.edu	37	X	108673542	108673542	+	Silent	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chrX:108673542G>A	ENST00000218006.2	-	8	2076	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	595	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ATACCATTTCGAACACATCAC	0.388																																																	0													197.0	196.0	197.0					X																	108673542		2203	4300	6503	SO:0001819	synonymous_variant	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1785C>T	X.37:g.108673542G>A			Q9UJF1	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.F595	ENST00000218006.2	37	c.1785	CCDS14545.1	X																																																																																			GUCY2F	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.388	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	G	NM_001522		108673542	-1	no_errors	ENST00000218006	ensembl	human	known	70_37	silent	SNP	1.000	A
HLA-DPB1	3115	genome.wustl.edu	37	6	33048688	33048689	+	Frame_Shift_Ins	INS	-	-	A	rs141530233|rs534577141	byFrequency	TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr6:33048688_33048689insA	ENST00000418931.2	+	2	456_457	c.340_341insA	c.(340-342)gggfs	p.G114fs	HLA-DPB1_ENST00000535465.1_Frame_Shift_Ins_p.G114fs|HLA-DPB1_ENST00000471184.1_3'UTR|HLA-DPA1_ENST00000419277.1_5'Flank	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	114	Beta-1.		G -> E (in allele DPB1*01:01, allele DPB1*03:01, allele DPB1*03:02, allele DPB1*04:03, allele DPB1*05:01, allele DPB1*05:02, allele DPB1*06:01, allele DPB1*08:01, allele DPB1*08:02, allele DPB1*09:01, allele DPB1*09:02, allele DPB1*10:01, allele DPB1*11:01, allele DPB1*13:01, allele DPB1*13:02, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*16:01, allele DPB1*17:01, allele DPB1*17:02, allele DPB1*19:01, allele DPB1*21:01, allele DPB1*21:02, allele DPB1*20:01, allele DPB1*22:01, allele DPB1*22:02, allele DPB1*25:01, allele DPB1*25:02, allele DPB1*26:01, allele DPB1*27:01, allele DPB1*29:01, allele DPB1*30:01, allele DPB1*31:01, allele DPB1*35:01, allele DPB1*36:01, allele DPB1*37:01, allele DPB1*38:01, allele DPB1*44:01, allele DPB1*45:01, allele DPB1*50:01, allele DPB1*52:01, allele DPB1*54:01, allele DPB1*55:01, allele DPB1*56:01, allele DPB1*57:01, allele DPB1*58:01, allele DPB1*63:01, allele DPB1*65:01, allele DPB1*67:01, allele DPB1*68:01, allele DPB1*69:01, allele DPB1*70:01, allele DPB1*76:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*84:01, allele DPB1*85:01, allele DPB1*87:01, allele DPB1*88:01, allele DPB1*89:01, allele DPB1*90:01, allele DPB1*91:01, allele DPB1*92:01, allele DPB1*93:01, allele DPB1*97:01 and allele DPB1*98:01; dbSNP:rs9277354). {ECO:0000269|PubMed:6330724}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CGAGCTGGGCGGGCCCATGACC	0.708																																																	0										2094,2108		551,992,558						-3.9	0.0		dbSNP_134	20	2192,6010		354,1484,2263	no	frameshift	HLA-DPB1	NM_002121.5		905,2476,2821	A1A1,A1R,RR		26.7252,49.8334,34.5534				4286,8118				SO:0001589	frameshift_variant	3115				CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	Exception_encountered	6.37:g.33048688_33048689insA	ENSP00000408146:p.Gly114fs		A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Frame_Shift_Ins	INS	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.G114fs	ENST00000418931.2	37	c.340_341	CCDS4765.1	6																																																																																			HLA-DPB1	-	superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N		0.708	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DPB1	HGNC	protein_coding	OTTHUMT00000076106.2	-	NM_002121		33048689	+1	no_errors	ENST00000418931	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	A
HMCN1	83872	genome.wustl.edu	37	1	185878636	185878636	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:185878636delT	ENST00000271588.4	+	5	1018	c.789delT	c.(787-789)cctfs	p.P263fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.P263fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	263					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTCGCAATCCTTTAGGTGAGA	0.358																																																	0													92.0	86.0	88.0					1																	185878636		2203	4300	6503	SO:0001589	frameshift_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.789delT	1.37:g.185878636delT	ENSP00000271588:p.Pro263fs		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.L264fs	ENST00000271588.4	37	c.789	CCDS30956.1	1																																																																																			HMCN1	-	NULL		0.358	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	T	NM_031935		185878636	+1	no_errors	ENST00000271588	ensembl	human	known	70_37	frame_shift_del	DEL	0.968	-
HTATSF1	27336	genome.wustl.edu	37	X	135582899	135582899	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chrX:135582899G>C	ENST00000218364.4	+	4	666	c.492G>C	c.(490-492)caG>caC	p.Q164H	HTATSF1_ENST00000535601.1_Missense_Mutation_p.Q164H	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	164	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GAGATCCTCAGACAGAAGAAT	0.308																																																	0													94.0	99.0	97.0					X																	135582899		2203	4295	6498	SO:0001583	missense	27336			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.492G>C	X.37:g.135582899G>C	ENSP00000218364:p.Gln164His		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q164H	ENST00000218364.4	37	c.492	CCDS14657.1	X	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118023	0.37339	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000425695;ENST00000218364;ENST00000415377	T;T	0.25579	1.79;1.79	5.9	0.1	0.14510	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.378755	0.30791	N	0.008877	T	0.15003	0.0362	N	0.16903	0.455	0.45690	D	0.998604	P	0.42078	0.77	B	0.42692	0.395	T	0.04621	-1.0938	10	0.62326	D	0.03	-7.5097	6.5027	0.22178	0.3986:0.0:0.4828:0.1186	.	164	O43719	HTSF1_HUMAN	H	164	ENSP00000442699:Q164H;ENSP00000218364:Q164H	ENSP00000218364:Q164H	Q	+	3	2	HTATSF1	135410565	0.996000	0.38824	0.996000	0.52242	0.994000	0.84299	0.455000	0.21843	-0.109000	0.12044	0.544000	0.68410	CAG	HTATSF1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.308	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	HGNC	protein_coding	OTTHUMT00000058497.1	G	NM_014500		135582899	+1	no_errors	ENST00000218364	ensembl	human	known	70_37	missense	SNP	0.920	C
INTS2	57508	genome.wustl.edu	37	17	59945364	59945364	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr17:59945364G>A	ENST00000444766.3	-	24	3350	c.3275C>T	c.(3274-3276)aCa>aTa	p.T1092I	INTS2_ENST00000251334.6_Missense_Mutation_p.T1084I	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1092					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CTTAGCCTGTGTTAAAACTGT	0.358																																																	0													29.0	25.0	26.0					17																	59945364		1822	4078	5900	SO:0001583	missense	57508			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.3275C>T	17.37:g.59945364G>A	ENSP00000414237:p.Thr1092Ile		Q9ULD3	Missense_Mutation	SNP	NULL	p.T1092I	ENST00000444766.3	37	c.3275	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040979	0.75732	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.46819	0.86	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.61481	-0.7054	9	.	.	.	-12.1204	18.4557	0.90720	0.0:0.0:1.0:0.0	.	1092	Q9H0H0	INT2_HUMAN	I	1092;1091	ENSP00000414237:T1092I	.	T	-	2	0	INTS2	57300146	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.100000	0.76989	2.671000	0.90904	0.585000	0.79938	ACA	INTS2	-	NULL		0.358	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1	G	NM_020748		59945364	-1	no_errors	ENST00000444766	ensembl	human	known	70_37	missense	SNP	1.000	A
IPO5	3843	genome.wustl.edu	37	13	98622062	98622062	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr13:98622062G>A	ENST00000261574.5	+	3	208	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K		NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	967					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGGAAAACTAGAAGCAACAGA	0.403																																																	0													105.0	101.0	102.0					13																	98622062		2203	4300	6503	SO:0001583	missense	3843			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000261574.5:c.28G>A	13.37:g.98622062G>A	ENSP00000261574:p.Glu10Lys		B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N	p.E10K	ENST00000261574.5	37	c.28	CCDS31999.1	13	.	.	.	.	.	.	.	.	.	.	g	15.45	2.836224	0.50951	.	.	ENSG00000065150	ENST00000477600;ENST00000460070;ENST00000481455;ENST00000261574;ENST00000463157;ENST00000493281;ENST00000489058;ENST00000481689;ENST00000480611;ENST00000485433;ENST00000496368;ENST00000421861	T	0.09817	2.94	5.47	5.47	0.80525	.	1.437790	0.04332	N	0.352557	T	0.17619	0.0423	N	0.08118	0	0.80722	D	1	D	0.56035	0.974	D	0.67725	0.953	T	0.25187	-1.0139	10	0.15066	T	0.55	0.0015	14.7359	0.69414	0.0:0.0:1.0:0.0	.	10	O00410-3	.	K	10;10;10;10;10;10;10;40;10;10;10;10	ENSP00000261574:E10K	ENSP00000261574:E10K	E	+	1	0	IPO5	97420063	1.000000	0.71417	1.000000	0.80357	0.482000	0.33219	2.669000	0.46825	2.853000	0.98044	0.645000	0.84053	GAA	IPO5	-	NULL		0.403	IPO5-001	KNOWN	basic|CCDS	protein_coding	IPO5	HGNC	protein_coding	OTTHUMT00000045533.2	G	NM_002271		98622062	+1	no_errors	ENST00000261574	ensembl	human	known	70_37	missense	SNP	1.000	A
ITGB4	3691	genome.wustl.edu	37	17	73738775	73738775	+	Silent	SNP	C	C	T	rs373517123		TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr17:73738775C>T	ENST00000200181.3	+	25	3082	c.2895C>T	c.(2893-2895)atC>atT	p.I965I	ITGB4_ENST00000450894.3_Silent_p.I965I|ITGB4_ENST00000339591.3_Silent_p.I965I|ITGB4_ENST00000449880.2_Silent_p.I965I|ITGB4_ENST00000579662.1_Silent_p.I965I	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	965					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGAGGCCATCGACGTGCCCG	0.642																																																	0								C	,,	2,4404	4.2+/-10.8	0,2,2201	71.0	54.0	60.0		2895,2895,2895	-3.5	0.7	17		60	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ITGB4	NM_000213.3,NM_001005619.1,NM_001005731.1	,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,	965/1823,965/1806,965/1753	73738775	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2895C>T	17.37:g.73738775C>T			A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu	p.I965	ENST00000200181.3	37	c.2895	CCDS11727.1	17																																																																																			ITGB4	-	pirsf_Integrin_bsu-4		0.642	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	C			73738775	+1	no_errors	ENST00000200181	ensembl	human	known	70_37	silent	SNP	0.606	T
JPH2	57158	genome.wustl.edu	37	20	42815230	42815230	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr20:42815230G>A	ENST00000372980.3	-	1	988	c.116C>T	c.(115-117)tCt>tTt	p.S39F	JPH2_ENST00000342272.3_Missense_Mutation_p.S39F	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	39	Gly-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCAGGAGCCAGAGTATTCGCC	0.617																																																	0													55.0	50.0	52.0					20																	42815230		2203	4300	6503	SO:0001583	missense	57158			AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.116C>T	20.37:g.42815230G>A	ENSP00000362071:p.Ser39Phe		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.S39F	ENST00000372980.3	37	c.116	CCDS13325.1	20	.	.	.	.	.	.	.	.	.	.	g	17.92	3.506207	0.64410	.	.	ENSG00000149596	ENST00000372980;ENST00000342272	T;T	0.55760	0.96;0.5	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	L	0.55213	1.73	0.80722	D	1	B;P	0.45240	0.022;0.854	B;P	0.51895	0.047;0.683	T	0.66440	-0.5923	10	0.62326	D	0.03	.	17.4267	0.87528	0.0:0.0:1.0:0.0	.	39;39	Q9BR39-2;Q9BR39	.;JPH2_HUMAN	F	39	ENSP00000362071:S39F;ENSP00000344590:S39F	ENSP00000344590:S39F	S	-	2	0	JPH2	42248644	1.000000	0.71417	0.963000	0.40424	0.992000	0.81027	9.372000	0.97165	2.100000	0.63781	0.556000	0.70494	TCT	JPH2	-	pfam_MORN,pirsf_Junctophilin		0.617	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH2	HGNC	protein_coding	OTTHUMT00000080307.1	G			42815230	-1	no_errors	ENST00000372980	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA1210	57481	genome.wustl.edu	37	X	118222151	118222151	+	Silent	SNP	C	C	G			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chrX:118222151C>G	ENST00000402510.2	-	11	3041	c.3042G>C	c.(3040-3042)gtG>gtC	p.V1014V		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1014										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GTAGTGGCTCCACAGAAATGA	0.458																																																	0													109.0	106.0	107.0					X																	118222151		1964	4133	6097	SO:0001819	synonymous_variant	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3042G>C	X.37:g.118222151C>G			B7ZCI8|Q5JPN4	Silent	SNP	NULL	p.V1014	ENST00000402510.2	37	c.3042	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	C	2.460	-0.324325	0.05350	.	.	ENSG00000248857	ENST00000440399	.	.	.	4.57	2.73	0.32206	.	.	.	.	.	T	0.32763	0.0840	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20806	-1.0264	4	.	.	.	.	6.6815	0.23123	0.2031:0.6043:0.1926:0.0	.	.	.	.	R	421	.	.	G	-	1	0	KIAA1210	118106179	0.018000	0.18449	0.001000	0.08648	0.012000	0.07955	0.918000	0.28678	0.601000	0.29879	0.600000	0.82982	GGA	KIAA1210	-	NULL		0.458	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	C	NM_020721		118222151	-1	no_errors	ENST00000402510	ensembl	human	known	70_37	silent	SNP	0.000	G
KIF16B	55614	genome.wustl.edu	37	20	16486496	16486496	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr20:16486496C>T	ENST00000354981.2	-	9	1028	c.871G>A	c.(871-873)Gat>Aat	p.D291N	KIF16B_ENST00000408042.1_Missense_Mutation_p.D291N|KIF16B_ENST00000355755.3_Missense_Mutation_p.D291N|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	291	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGAGATAAATCAGCTATGAAA	0.358																																																	0													47.0	44.0	45.0					20																	16486496		2203	4300	6503	SO:0001583	missense	55614			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.871G>A	20.37:g.16486496C>T	ENSP00000347076:p.Asp291Asn		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D291N	ENST00000354981.2	37	c.871	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396215	0.83011	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.75367	-0.93;-0.93;-0.93	5.74	5.74	0.90152	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.85230	0.5649	M	0.64630	1.985	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.992;0.999;0.999	D	0.85641	0.1276	10	0.87932	D	0	.	18.4783	0.90800	0.0:1.0:0.0:0.0	.	291;291;291;291	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	N	291	ENSP00000347076:D291N;ENSP00000347995:D291N;ENSP00000384164:D291N	ENSP00000347076:D291N	D	-	1	0	KIF16B	16434496	1.000000	0.71417	0.994000	0.49952	0.384000	0.30261	7.419000	0.80179	2.873000	0.98535	0.563000	0.77884	GAT	KIF16B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom		0.358	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	C	NM_017683		16486496	-1	no_errors	ENST00000408042	ensembl	human	known	70_37	missense	SNP	1.000	T
KIF2C	11004	genome.wustl.edu	37	1	45228219	45228219	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:45228219A>T	ENST00000372224.4	+	19	1973	c.1860A>T	c.(1858-1860)ttA>ttT	p.L620F	RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372222.3_Missense_Mutation_p.L507F|KIF2C_ENST00000372217.1_Missense_Mutation_p.L566F|KIF2C_ENST00000372218.4_Missense_Mutation_p.L579F|RP11-269F19.2_ENST00000440985.1_RNA	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	620					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)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CCTCTCAGTTATCCAAGGAAG	0.522																																																	0													95.0	87.0	90.0					1																	45228219		2203	4300	6503	SO:0001583	missense	11004			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.1860A>T	1.37:g.45228219A>T	ENSP00000361298:p.Leu620Phe		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L620F	ENST00000372224.4	37	c.1860	CCDS512.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.390|8.390	0.839519|0.839519	0.16891|0.16891	.|.	.|.	ENSG00000142945|ENSG00000142945	ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217|ENST00000423289	T;T;T;T|.	0.76448|.	-1.01;-0.82;-1.0;-1.02|.	6.17|6.17	-2.42|-2.42	0.06542|0.06542	.|.	0.630411|.	0.15739|.	N|.	0.247006|.	T|T	0.13030|0.13030	0.0316|0.0316	N|N	0.08118|0.08118	0|0	0.29139|0.29139	N|N	0.879102|0.879102	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.08055|.	0.003;0.003;0.001|.	T|T	0.29027|0.29027	-1.0025|-1.0025	10|5	0.08381|.	T|.	0.77|.	.|.	1.6815|1.6815	0.02832|0.02832	0.2722:0.3805:0.166:0.1813|0.2722:0.3805:0.166:0.1813	.|.	579;566;620|.	B7Z6Q6;Q99661-2;Q99661|.	.;.;KIF2C_HUMAN|.	F|F	620;579;507;566|85	ENSP00000361298:L620F;ENSP00000361292:L579F;ENSP00000361296:L507F;ENSP00000361291:L566F|.	ENSP00000361291:L566F|.	L|Y	+|+	3|2	2|0	KIF2C|KIF2C	45000806|45000806	0.916000|0.916000	0.31088|0.31088	0.987000|0.987000	0.45799|0.45799	0.701000|0.701000	0.40568|0.40568	-0.064000|-0.064000	0.11636|0.11636	-0.105000|-0.105000	0.12132|0.12132	-0.213000|-0.213000	0.12676|0.12676	TTA|TAT	KIF2C	-	NULL		0.522	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2C	HGNC	protein_coding	OTTHUMT00000023180.1	A	NM_006845		45228219	+1	no_errors	ENST00000372224	ensembl	human	known	70_37	missense	SNP	0.896	T
LIG4	3981	genome.wustl.edu	37	13	108861175	108861175	+	Silent	SNP	T	T	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr13:108861175T>A	ENST00000356922.4	-	2	2714	c.2442A>T	c.(2440-2442)cgA>cgT	p.R814R	LIG4_ENST00000442234.1_Silent_p.R814R|LIG4_ENST00000405925.1_Silent_p.R814R	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	814	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CGGTGTGGCGTCGAAACATAC	0.418								Non-homologous end-joining																																									0													87.0	82.0	84.0					13																	108861175		2203	4300	6503	SO:0001819	synonymous_variant	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2442A>T	13.37:g.108861175T>A			Q8IY66|Q8TEU5	Silent	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.R814	ENST00000356922.4	37	c.2442	CCDS9508.1	13																																																																																			LIG4	-	smart_BRCT_dom,pfscan_BRCT_dom		0.418	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	T	NM_002312		108861175	-1	no_errors	ENST00000356922	ensembl	human	known	70_37	silent	SNP	0.888	A
LINC00969	440993	genome.wustl.edu	37	3	195412928	195412928	+	lincRNA	SNP	G	G	A	rs9840959	byFrequency	TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr3:195412928G>A	ENST00000445430.1	+	0	4125									long intergenic non-protein coding RNA 969																		GCCGGGGAGCGTGGCACTTAC	0.428																																																	0																																												440993			AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195412928G>A				RNA	SNP	-	NULL	ENST00000445430.1	37	NULL		3																																																																																			AC069513.3	-	-		0.428	LINC00969-038	KNOWN	basic	lincRNA	LOC440993	Clone_based_vega_gene	lincRNA	OTTHUMT00000341951.1	G			195412928	+1	no_errors	ENST00000414625	ensembl	human	known	70_37	rna	SNP	0.000	A
LOC101929232	101929232	genome.wustl.edu	37	15	29083972	29083973	+	IGR	INS	-	-	TCT	rs61182985|rs201212930|rs374407265	byFrequency	TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr15:29083972_29083973insTCT								RP11-578F21.12 (30528 upstream) : GOLGA6L7P (6133 downstream)																							CAACCAGGTAATCTGAGTTTTG	0.376														499	0.0996406	0.2625	0.062	5008	,	,		14093	0.0823		0.001	False		,,,				2504	0.0256																0																																										SO:0001628	intergenic_variant	646278																															15.37:g.29083973_29083975dupTCT				RNA	INS	-	NULL		37	NULL		15																																																																																			RP11-578F21.12	-	-	0	0.376					LOC646278	Clone_based_vega_gene			-			29083973	+1	no_errors	ENST00000563144	ensembl	human	putative	70_37	rna	INS	0.953:0.939	TCT
LRP1	4035	genome.wustl.edu	37	12	57578215	57578215	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr12:57578215G>A	ENST00000243077.3	+	38	6632	c.6166G>A	c.(6166-6168)Ggc>Agc	p.G2056S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2056					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGGCCCAACGGCATCTCAGT	0.597																																																	0													127.0	101.0	110.0					12																	57578215		2203	4300	6503	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6166G>A	12.37:g.57578215G>A	ENSP00000243077:p.Gly2056Ser		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G2056S	ENST00000243077.3	37	c.6166	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.279191	0.95489	.	.	ENSG00000123384	ENST00000243077	D	0.97529	-4.42	5.3	5.3	0.74995	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.98232	0.9415	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98501	1.0614	10	0.46703	T	0.11	.	17.7312	0.88378	0.0:0.0:1.0:0.0	.	2056	Q07954	LRP1_HUMAN	S	2056	ENSP00000243077:G2056S	ENSP00000243077:G2056S	G	+	1	0	LRP1	55864482	1.000000	0.71417	0.975000	0.42487	0.756000	0.42949	8.003000	0.88520	2.480000	0.83734	0.561000	0.74099	GGC	LRP1	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.597	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	G	NM_002332		57578215	+1	no_errors	ENST00000243077	ensembl	human	known	70_37	missense	SNP	1.000	A
LRRC8B	23507	genome.wustl.edu	37	1	90048796	90048796	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:90048796C>T	ENST00000330947.2	+	5	947	c.587C>T	c.(586-588)tCa>tTa	p.S196L	LRRC8B_ENST00000439853.1_Missense_Mutation_p.S196L|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.S196L	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	196					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TCAGGGTGTTCAGCTGACATA	0.532																																																	0													53.0	58.0	56.0					1																	90048796		2203	4300	6503	SO:0001583	missense	23507			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.587C>T	1.37:g.90048796C>T	ENSP00000332674:p.Ser196Leu		D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S196L	ENST00000330947.2	37	c.587	CCDS724.1	1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130276	0.37630	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853;ENST00000541858	T;T;T	0.38240	1.15;1.15;1.15	5.0	5.0	0.66597	.	0.213907	0.33534	N	0.004819	T	0.18257	0.0438	L	0.50333	1.59	0.42441	D	0.992711	B	0.02656	0.0	B	0.04013	0.001	T	0.03695	-1.1012	9	.	.	.	.	13.0329	0.58854	0.0:0.9217:0.0:0.0783	.	196	Q6P9F7	LRC8B_HUMAN	L	196	ENSP00000332674:S196L;ENSP00000350933:S196L;ENSP00000400704:S196L	.	S	+	2	0	LRRC8B	89821384	0.064000	0.20934	0.940000	0.37924	0.932000	0.56968	1.389000	0.34453	2.465000	0.83290	0.655000	0.94253	TCA	LRRC8B	-	NULL		0.532	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8B	HGNC	protein_coding	OTTHUMT00000028008.1	C	NM_015350		90048796	+1	no_errors	ENST00000330947	ensembl	human	known	70_37	missense	SNP	0.977	T
LRRC8B	23507	genome.wustl.edu	37	1	90049129	90049129	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:90049129C>G	ENST00000330947.2	+	5	1280	c.920C>G	c.(919-921)tCc>tGc	p.S307C	LRRC8B_ENST00000439853.1_Missense_Mutation_p.S307C|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.S307C	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	307					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TGTGTCTATTCCTTGGCAGAA	0.408																																																	0													155.0	158.0	157.0					1																	90049129		2203	4300	6503	SO:0001583	missense	23507			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.920C>G	1.37:g.90049129C>G	ENSP00000332674:p.Ser307Cys		D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S307C	ENST00000330947.2	37	c.920	CCDS724.1	1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541634	0.65085	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.44881	0.91;0.91;0.91	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000001	T	0.44973	0.1319	L	0.44542	1.39	0.58432	D	0.999992	D	0.69078	0.997	P	0.56042	0.79	T	0.42882	-0.9425	10	0.66056	D	0.02	.	19.3136	0.94202	0.0:1.0:0.0:0.0	.	307	Q6P9F7	LRC8B_HUMAN	C	307	ENSP00000332674:S307C;ENSP00000350933:S307C;ENSP00000400704:S307C	ENSP00000332674:S307C	S	+	2	0	LRRC8B	89821717	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.722000	0.84778	2.629000	0.89072	0.655000	0.94253	TCC	LRRC8B	-	NULL		0.408	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8B	HGNC	protein_coding	OTTHUMT00000028008.1	C	NM_015350		90049129	+1	no_errors	ENST00000330947	ensembl	human	known	70_37	missense	SNP	1.000	G
MAGEA1	4100	genome.wustl.edu	37	X	152482140	152482140	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chrX:152482140G>A	ENST00000356661.5	-	3	1089	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	291	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGAAAAAGCGAACTCTTGCA	0.557																																																	0													133.0	126.0	129.0					X																	152482140		2203	4300	6503	SO:0001583	missense	4100				CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"""melanoma-associated antigen 1"", ""melanoma-associated antigen MZ2-E"", ""melanoma antigen MAGE-1"", ""melanoma antigen family A 1"", ""cancer/testis antigen family 1, member 1"""	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.871C>T	X.37:g.152482140G>A	ENSP00000349085:p.Arg291Cys		B2RC81|O00346	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R291C	ENST00000356661.5	37	c.871	CCDS14720.1	X	.	.	.	.	.	.	.	.	.	.	G	9.705	1.155447	0.21454	.	.	ENSG00000198681	ENST00000356661	T	0.01821	4.62	1.28	-2.55	0.06288	.	0.240065	0.42964	D	0.000630	T	0.02571	0.0078	M	0.68317	2.08	0.09310	N	1	D	0.69078	0.997	P	0.47645	0.553	T	0.33624	-0.9861	10	0.87932	D	0	.	2.7946	0.05397	0.3979:0.2477:0.3544:0.0	.	291	P43355	MAGA1_HUMAN	C	291	ENSP00000349085:R291C	ENSP00000349085:R291C	R	-	1	0	MAGEA1	152135334	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.227000	0.09126	-1.112000	0.02984	-1.130000	0.01982	CGC	MAGEA1	-	pfscan_MAGE		0.557	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA1	HGNC	protein_coding	OTTHUMT00000060940.1	G	NM_004988		152482140	-1	no_errors	ENST00000356661	ensembl	human	known	70_37	missense	SNP	0.000	A
MAGI1	9223	genome.wustl.edu	37	3	66023959	66023960	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr3:66023959_66023960delTC	ENST00000497477.2	-	1	23_24	c.24_25delGA	c.(22-27)aagaacfs	p.N9fs	MAGI1_ENST00000483466.1_Frame_Shift_Del_p.N9fs|MAGI1_ENST00000402939.2_Frame_Shift_Del_p.N9fs|MAGI1_ENST00000330909.8_Frame_Shift_Del_p.N9fs			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	9					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTCCAGTGGTTCTTCTTCTGGA	0.604																																																	0																																										SO:0001589	frameshift_variant	9223			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.24_25delGA	3.37:g.66023959_66023960delTC	ENSP00000424369:p.Asn9fs		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Frame_Shift_Del	DEL	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.N9fs	ENST00000497477.2	37	c.25_24		3																																																																																			MAGI1	-	superfamily_PDZ		0.604	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349132.2	TC	NM_004742		66023960	-1	no_errors	ENST00000402939	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000	-
MAGT1	84061	genome.wustl.edu	37	X	77150816	77150816	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chrX:77150816C>A	ENST00000373336.3	-	1	121	c.92G>T	c.(91-93)aGa>aTa	p.R31I	MAGT1_ENST00000358075.6_Missense_Mutation_p.R63I			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	31					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						CTCCTTCTTTCTTTGGGCAGA	0.587																																																	0													105.0	78.0	87.0					X																	77150816		2203	4296	6499	SO:0001583	missense	84061				CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.92G>T	X.37:g.77150816C>A	ENSP00000362433:p.Arg31Ile		B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold	p.R63I	ENST00000373336.3	37	c.188		X	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306820	0.40795	.	.	ENSG00000102158	ENST00000358075;ENST00000373336	T;T	0.46819	0.86;0.89	4.41	4.41	0.53225	.	0.127047	0.47093	D	0.000255	T	0.39436	0.1078	L	0.50333	1.59	0.43782	D	0.996311	B;B	0.23058	0.012;0.079	B;B	0.25987	0.027;0.065	T	0.29579	-1.0007	10	0.34782	T	0.22	-10.3754	7.4676	0.27330	0.0:0.8805:0.0:0.1195	.	31;63	Q9H0U3;B4DH58	MAGT1_HUMAN;.	I	63;31	ENSP00000354649:R63I;ENSP00000362433:R31I	ENSP00000354649:R63I	R	-	2	0	MAGT1	77037472	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	2.019000	0.41001	2.165000	0.68154	0.544000	0.68410	AGA	MAGT1	-	NULL		0.587	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	MAGT1	HGNC	protein_coding	OTTHUMT00000057302.2	C	NM_032121		77150816	-1	no_errors	ENST00000358075	ensembl	human	known	70_37	missense	SNP	0.999	A
MAP3K13	9175	genome.wustl.edu	37	3	185191432	185191432	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr3:185191432G>C	ENST00000265026.3	+	11	2647	c.2313G>C	c.(2311-2313)caG>caC	p.Q771H	MAP3K13_ENST00000535426.1_Missense_Mutation_p.Q627H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.Q627H|MAP3K13_ENST00000446828.1_Missense_Mutation_p.Q564H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.Q771H	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACGCCCAGAGTTCTGAGA	0.527																																																	0													98.0	106.0	103.0					3																	185191432		2203	4300	6503	SO:0001583	missense	9175			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2313G>C	3.37:g.185191432G>C	ENSP00000265026:p.Gln771His			Missense_Mutation	SNP	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q771H	ENST00000265026.3	37	c.2313	CCDS3270.1	3	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380554	0.24944	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	5.8	-4.85	0.03142	.	0.788260	0.12061	N	0.503191	T	0.05044	0.0135	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.003;0.003;0.001	T	0.30707	-0.9969	10	0.44086	T	0.13	.	4.8828	0.13688	0.1455:0.2885:0.4694:0.0966	.	627;564;771	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	H	564;771;627;627;771	ENSP00000411483:Q564H;ENSP00000399910:Q771H;ENSP00000409325:Q627H;ENSP00000439257:Q627H;ENSP00000265026:Q771H	ENSP00000265026:Q771H	Q	+	3	2	MAP3K13	186674126	0.000000	0.05858	0.001000	0.08648	0.589000	0.36550	-0.320000	0.08028	-0.788000	0.04504	0.655000	0.94253	CAG	MAP3K13	-	pirsf_MAP3K12_MAP3K13		0.527	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K13	HGNC	protein_coding	OTTHUMT00000345268.1	G	NM_004721		185191432	+1	no_errors	ENST00000265026	ensembl	human	known	70_37	missense	SNP	0.000	C
MGAM	8972	genome.wustl.edu	37	7	141708495	141708496	+	Frame_Shift_Ins	INS	-	-	TG	rs377148306		TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr7:141708495_141708496insTG	ENST00000549489.2	+	3	412_413	c.317_318insTG	c.(316-321)ccgccafs	p.P107fs	MGAM_ENST00000475668.2_Frame_Shift_Ins_p.P107fs	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	107	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				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)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTGACCAGCCGCCAACAAAGG	0.371																																																	0																																										SO:0001589	frameshift_variant	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	Exception_encountered	7.37:g.141708495_141708496insTG	ENSP00000447378:p.Pro107fs		Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Ins	INS	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.P107fs	ENST00000549489.2	37	c.317_318	CCDS47727.1	7																																																																																			MGAM	-	pfam_P_trefoil,smart_P_trefoil		0.371	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	-			141708496	+1	no_errors	ENST00000549489	ensembl	human	known	70_37	frame_shift_ins	INS	0.076:0.114	TG
MLNR	2862	genome.wustl.edu	37	13	49796301	49796301	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr13:49796301C>A	ENST00000218721.1	+	2	1027	c.1027C>A	c.(1027-1029)Ctt>Att	p.L343I	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	343					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGCTCTGCAACTTTTCTATCT	0.463																																																	0													199.0	186.0	191.0					13																	49796301		2203	4300	6503	SO:0001583	missense	2862			AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.1027C>A	13.37:g.49796301C>A	ENSP00000218721:p.Leu343Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,prints_GHS1_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.L343I	ENST00000218721.1	37	c.1027	CCDS9414.1	13	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315164	0.81358	.	.	ENSG00000102539	ENST00000218721	T	0.49139	0.79	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000002	T	0.71178	0.3309	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74705	-0.3575	10	0.51188	T	0.08	.	11.5374	0.50645	0.0:0.9173:0.0:0.0827	.	343	O43193	MTLR_HUMAN	I	343	ENSP00000218721:L343I	ENSP00000218721:L343I	L	+	1	0	MLNR	48694302	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.954000	0.70298	2.565000	0.86533	0.650000	0.86243	CTT	MLNR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.463	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLNR	HGNC	protein_coding	OTTHUMT00000044897.1	C	NM_001507		49796301	+1	no_errors	ENST00000218721	ensembl	human	known	70_37	missense	SNP	1.000	A
MT-ATP6	4508	genome.wustl.edu	37	M	9176	9176	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chrM:9176T>C	ENST00000361899.2	+	1	650	c.650T>C	c.(649-651)cTa>cCa	p.L217P	MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TG_ENST00000387429.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-CO3_ENST00000362079.2_5'Flank			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	217			L -> P (in LS and MIBSN). {ECO:0000269|PubMed:7668837, ECO:0000269|PubMed:9270604, ECO:0000269|PubMed:9501263}.		ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						TTTCACACTTCTAGTAAGCCT	0.443																																																	0																																										SO:0001583	missense	4508					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.650T>C	M.37:g.9176T>C	ENSP00000354632:p.Leu217Pro		Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Missense_Mutation	SNP	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu	p.L217P	ENST00000361899.2	37	c.650		MT																																																																																			MT-ATP6	-	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu		0.443	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	MT-ATP6	HGNC	protein_coding		T	YP_003024031		9176	+1	no_errors	ENST00000361899	ensembl	human	known	70_37	missense	SNP	NULL	C
MUC4	4585	genome.wustl.edu	37	3	195512103	195512103	+	Silent	SNP	G	G	A	rs437805	byFrequency	TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr3:195512103G>A	ENST00000463781.3	-	2	6807	c.6348C>T	c.(6346-6348)acC>acT	p.T2116T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2116T|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		AGGAAGCATCGGTGTCATGAA	0.562																																																	0													81.0	69.0	72.0					3																	195512103		691	1590	2281	SO:0001819	synonymous_variant	4585			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.6348C>T	3.37:g.195512103G>A			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.T2116	ENST00000463781.3	37	c.6348	CCDS54700.1	3																																																																																			MUC4	-	NULL		0.562	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195512103	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	silent	SNP	0.138	A
MUC4	4585	genome.wustl.edu	37	3	195515364	195515364	+	Silent	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr3:195515364G>A	ENST00000463781.3	-	2	3546	c.3087C>T	c.(3085-3087)gaC>gaT	p.D1029D	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.D1029D|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	461	Repeat.				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)		CTGAGGAAGTGTCGGTGACAG	0.567																																																	0													51.0	26.0	33.0					3																	195515364		692	1590	2282	SO:0001819	synonymous_variant	4585			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.3087C>T	3.37:g.195515364G>A			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.D1029	ENST00000463781.3	37	c.3087	CCDS54700.1	3																																																																																			MUC4	-	NULL		0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195515364	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	silent	SNP	0.000	A
NEGR1	257194	genome.wustl.edu	37	1	72400957	72400957	+	Silent	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:72400957G>A	ENST00000357731.5	-	2	453	c.214C>T	c.(214-216)Ctg>Ttg	p.L72L	NEGR1_ENST00000434200.1_Silent_p.L70L|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	72	Ig-like C2-type 1.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GACCGGTTCAGCCAGGCACCC	0.378																																																	0													84.0	84.0	84.0					1																	72400957		2203	4300	6503	SO:0001819	synonymous_variant	257194			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.214C>T	1.37:g.72400957G>A			Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L72	ENST00000357731.5	37	c.214	CCDS661.1	1																																																																																			NEGR1	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.378	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEGR1	HGNC	protein_coding	OTTHUMT00000026722.4	G	NM_173808		72400957	-1	no_errors	ENST00000357731	ensembl	human	known	70_37	silent	SNP	1.000	A
NOC4L	79050	genome.wustl.edu	37	12	132636945	132636945	+	Silent	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr12:132636945G>A	ENST00000330579.1	+	15	1591	c.1550G>A	c.(1549-1551)tGa>tAa	p.*517*	NOC4L_ENST00000538784.1_Silent_p.*132*	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	0					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		ACGCTCAGCTGACCCTGGCCC	0.602																																																	0													20.0	19.0	19.0					12																	132636945		2178	4280	6458	SO:0001819	synonymous_variant	79050				CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1550G>A	12.37:g.132636945G>A			Q8N2S5|Q96I14	Silent	SNP	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.*517	ENST00000330579.1	37	c.1550	CCDS9277.1	12																																																																																			NOC4L	-	NULL		0.602	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC4L	HGNC	protein_coding	OTTHUMT00000398999.1	G	NM_024078		132636945	+1	no_errors	ENST00000330579	ensembl	human	known	70_37	silent	SNP	0.998	A
NR2E1	7101	genome.wustl.edu	37	6	108497844	108497844	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr6:108497844G>A	ENST00000368986.4	+	4	1105	c.397G>A	c.(397-399)Gcg>Acg	p.A133T	NR2E1_ENST00000484978.1_3'UTR|NR2E1_ENST00000368983.3_Missense_Mutation_p.A170T	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	133					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	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)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CTTCTTCACCGCGGTCACGCA	0.706																																																	0													14.0	15.0	15.0					6																	108497844		2199	4292	6491	SO:0001583	missense	7101			Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.397G>A	6.37:g.108497844G>A	ENSP00000357982:p.Ala133Thr		Q6ZMP8	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.A133T	ENST00000368986.4	37	c.397	CCDS5063.1	6	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242733	0.39598	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	T;T	0.49720	0.77;0.77	5.76	4.9	0.64082	Nuclear hormone receptor, ligand-binding (1);	0.209027	0.50627	N	0.000114	T	0.12092	0.0294	N	0.12746	0.255	0.44330	D	0.997216	B	0.06786	0.001	B	0.01281	0.0	T	0.11665	-1.0578	10	0.17832	T	0.49	.	9.2007	0.37256	0.2172:0.0:0.7828:0.0	.	133	Q9Y466	NR2E1_HUMAN	T	133;170	ENSP00000357982:A133T;ENSP00000357979:A170T	ENSP00000357979:A170T	A	+	1	0	NR2E1	108604537	0.997000	0.39634	0.722000	0.30670	0.444000	0.32077	2.930000	0.48924	1.442000	0.47568	0.655000	0.94253	GCG	NR2E1	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.706	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2E1	HGNC	protein_coding	OTTHUMT00000041712.2	G			108497844	+1	no_errors	ENST00000368986	ensembl	human	known	70_37	missense	SNP	0.949	A
NR3C2	4306	genome.wustl.edu	37	4	149356645	149356645	+	Silent	SNP	C	C	T	rs72645627		TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr4:149356645C>T	ENST00000358102.3	-	2	1730	c.1368G>A	c.(1366-1368)tcG>tcA	p.S456S	NR3C2_ENST00000512865.1_Silent_p.S456S|NR3C2_ENST00000355292.3_Silent_p.S456S|NR3C2_ENST00000511528.1_Silent_p.S456S|NR3C2_ENST00000344721.4_Silent_p.S456S	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	456	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	AGGAAAAATACGAGCCATCCA	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		20388	0.0		0.0	False		,,,				2504	0.001				Melanoma(27;428 957 40335 51025 51111)												0													65.0	63.0	64.0					4																	149356645		2203	4300	6503	SO:0001819	synonymous_variant	4306			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1368G>A	4.37:g.149356645C>T			B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S456	ENST00000358102.3	37	c.1368	CCDS3772.1	4																																																																																			NR3C2	-	NULL		0.418	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	HGNC	protein_coding	OTTHUMT00000364986.1	C			149356645	-1	no_errors	ENST00000355292	ensembl	human	known	70_37	silent	SNP	0.004	T
OR1J1	347168	genome.wustl.edu	37	9	125239426	125239427	+	Frame_Shift_Ins	INS	-	-	AAAT			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr9:125239426_125239427insAAAT	ENST00000259357.2	-	1	808_809	c.779_780insATTT	c.(778-780)tttfs	p.-259fs	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						ATGGGGGAAGAAAATAGAGACC	0.436																																																	0																																										SO:0001589	frameshift_variant	347168			AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"""GPCR / Class A : Olfactory receptors"""	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.776_779dupATTT	9.37:g.125239427_125239430dupAAAT	ENSP00000259357:p.Tyr259fs		A3KFL8|Q6IF10|Q96R88	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F260fs	ENST00000259357.2	37	c.780_779	CCDS35120.1	9																																																																																			OR1J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.436	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J1	HGNC	protein_coding	OTTHUMT00000053931.1	-			125239427	-1	no_errors	ENST00000259357	ensembl	human	known	70_37	frame_shift_ins	INS	0.007:0.015	AAAT
OTUD3	23252	genome.wustl.edu	37	1	20234066	20234069	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	ACAA	ACAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:20234066_20234069delACAA	ENST00000375120.3	+	8	1025_1028	c.1024_1027delACAA	c.(1024-1029)acaaacfs	p.TN342fs		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	342					protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTCAGGTCACAAACAAACAGAG	0.564																																																	0																																										SO:0001589	frameshift_variant	23252			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.1024_1027delACAA	1.37:g.20234070_20234073delACAA	ENSP00000364261:p.Thr342fs		O75047	Frame_Shift_Del	DEL	pfam_OTU,pfscan_OTU	p.K344fs	ENST00000375120.3	37	c.1024_1027	CCDS41279.1	1																																																																																			OTUD3	-	NULL		0.564	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD3	HGNC	protein_coding	OTTHUMT00000007655.1	ACAA			20234069	+1	no_errors	ENST00000375120	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000:0.976:1.000	-
PANK4	55229	genome.wustl.edu	37	1	2447098	2447100	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:2447098_2447100delAGG	ENST00000378466.3	-	10	1287_1289	c.1275_1277delCCT	c.(1273-1278)ctcctg>ctg	p.425_426LL>L	PANK4_ENST00000435556.3_In_Frame_Del_p.386_387LL>L	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	425					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGGCGGGTCCAGGAGGAGCGGCA	0.621																																																	0																																										SO:0001651	inframe_deletion	55229			AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.1275_1277delCCT	1.37:g.2447101_2447103delAGG	ENSP00000367727:p.Leu426del		B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	In_Frame_Del	DEL	pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK	p.L426in_frame_del	ENST00000378466.3	37	c.1277_1275	CCDS42.1	1																																																																																			PANK4	-	superfamily_DUF89,pirsf_PanK_long		0.621	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK4	HGNC	protein_coding	OTTHUMT00000002082.1	AGG			2447100	-1	no_errors	ENST00000378466	ensembl	human	known	70_37	in_frame_del	DEL	0.995:1.000:1.000	-
PADI2	11240	genome.wustl.edu	37	1	17396669	17396669	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:17396669C>T	ENST00000375486.4	-	15	1741	c.1678G>A	c.(1678-1680)Gga>Aga	p.G560R	PADI2_ENST00000444885.2_Missense_Mutation_p.G444R|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	560					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TCTGTCAGTCCCAGCTCCTTC	0.592																																																	0													174.0	156.0	162.0					1																	17396669		2203	4300	6503	SO:0001583	missense	11240			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1678G>A	1.37:g.17396669C>T	ENSP00000364635:p.Gly560Arg		Q96DA7|Q9UPN2	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.G560R	ENST00000375486.4	37	c.1678	CCDS177.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020978	0.75275	.	.	ENSG00000117115	ENST00000375486;ENST00000444885	T;T	0.58506	0.33;0.33	4.74	3.82	0.43975	Protein-arginine deiminase, C-terminal (1);	0.217966	0.47852	D	0.000205	T	0.80031	0.4549	M	0.91510	3.215	0.53688	D	0.99997	D;D	0.89917	1.0;0.991	D;D	0.91635	0.999;0.948	D	0.85111	0.0963	10	0.87932	D	0	-24.2824	14.0905	0.64987	0.0:0.8481:0.1519:0.0	.	444;560	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	R	560;444	ENSP00000364635:G560R;ENSP00000405894:G444R	ENSP00000364635:G560R	G	-	1	0	PADI2	17269256	1.000000	0.71417	0.924000	0.36721	0.671000	0.39405	7.124000	0.77185	1.333000	0.45449	0.563000	0.77884	GGA	PADI2	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.592	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	HGNC	protein_coding	OTTHUMT00000006624.1	C			17396669	-1	no_errors	ENST00000375486	ensembl	human	known	70_37	missense	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178938934	178938934	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr3:178938934G>A	ENST00000263967.3	+	14	2333	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	726			E -> K (in MCAP). {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.E726K(8)		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)	GAAGAAGGATGAAACACAAAA	0.428		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"""	8	Substitution - Missense(8)	lung(4)|large_intestine(2)|breast(2)											89.0	78.0	82.0					3																	178938934		1917	4118	6035	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2176G>A	3.37:g.178938934G>A	ENSP00000263967:p.Glu726Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E726K	ENST00000263967.3	37	c.2176	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308869	0.60305	.	.	ENSG00000121879	ENST00000263967	T	0.80653	-1.4	5.67	5.67	0.87782	Protein kinase-like domain (1);	0.166180	0.38778	U	0.001568	T	0.73450	0.3588	L	0.36672	1.1	0.80722	D	1	P	0.46064	0.872	B	0.42738	0.396	T	0.71401	-0.4604	10	0.02654	T	1	-19.3819	19.7612	0.96319	0.0:0.0:1.0:0.0	.	726	P42336	PK3CA_HUMAN	K	726	ENSP00000263967:E726K	ENSP00000263967:E726K	E	+	1	0	PIK3CA	180421628	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.476000	0.97823	2.670000	0.90874	0.655000	0.94253	GAA	PIK3CA	-	superfamily_Kinase-like_dom		0.428	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178938934	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PPP2R2D	55844	genome.wustl.edu	37	10	133769261	133769261	+	3'UTR	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr10:133769261G>A	ENST00000470416.1	+	0	646				PPP2R2D_ENST00000422256.2_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta						exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		TGTGACCCTGGAGGCCTCGAG	0.562																																																	0													50.0	58.0	55.0					10																	133769261		2132	4255	6387	SO:0001624	3_prime_UTR_variant	55844			AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000470416.1:c.*643G>A	10.37:g.133769261G>A			A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.E355K	ENST00000470416.1	37	c.1063		10	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978142	0.74360	.	.	ENSG00000175470	ENST00000455566	T	0.32988	1.43	3.9	3.9	0.45041	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.53594	0.1806	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.63488	0.915	T	0.62086	-0.6928	9	0.72032	D	0.01	3.0E-4	16.493	0.84207	0.0:0.0:1.0:0.0	.	386	Q66LE6	2ABD_HUMAN	K	355	ENSP00000399970:E355K	ENSP00000399970:E355K	E	+	1	0	PPP2R2D	133619251	1.000000	0.71417	0.967000	0.41034	0.020000	0.10135	8.321000	0.89997	2.189000	0.69895	0.655000	0.94253	GAG	PPP2R2D	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55		0.562	PPP2R2D-005	KNOWN	basic	processed_transcript	PPP2R2D	HGNC	protein_coding	OTTHUMT00000051038.1	G	NM_018461		133769261	+1	no_errors	ENST00000455566	ensembl	human	known	70_37	missense	SNP	1.000	A
PTPRF	5792	genome.wustl.edu	37	1	44054441	44054441	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:44054441G>A	ENST00000359947.4	+	8	1059	c.719G>A	c.(718-720)aGc>aAc	p.S240N	PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000372414.3_Missense_Mutation_p.S240N|PTPRF_ENST00000372413.3_Missense_Mutation_p.S240N|PTPRF_ENST00000438120.1_Missense_Mutation_p.S240N	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	240	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTCCCAGCAGCCAGGAGGTG	0.657																																																	0													59.0	51.0	54.0					1																	44054441		2203	4300	6503	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.719G>A	1.37:g.44054441G>A	ENSP00000353030:p.Ser240Asn		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.S240N	ENST00000359947.4	37	c.719	CCDS489.2	1	.	.	.	.	.	.	.	.	.	.	G	7.968	0.748380	0.15710	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.33	1.34	0.21922	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.182194	0.26915	N	0.021850	T	0.10852	0.0265	N	0.05534	-0.03	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28713	-1.0035	10	0.02654	T	1	.	6.7794	0.23638	0.5514:0.0:0.4486:0.0	.	240;240	P10586-2;P10586	.;PTPRF_HUMAN	N	240	ENSP00000353030:S240N;ENSP00000398822:S240N;ENSP00000361491:S240N;ENSP00000361490:S240N	ENSP00000353030:S240N	S	+	2	0	PTPRF	43827028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.429000	0.34903	0.435000	0.26365	0.655000	0.94253	AGC	PTPRF	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.657	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	G			44054441	+1	no_errors	ENST00000359947	ensembl	human	known	70_37	missense	SNP	1.000	A
PTPRM	5797	genome.wustl.edu	37	18	8380408	8380408	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr18:8380408G>A	ENST00000332175.8	+	27	4899	c.3862G>A	c.(3862-3864)Gat>Aat	p.D1288N	PTPRM_ENST00000400060.4_Missense_Mutation_p.D1302N|PTPRM_ENST00000400053.4_Missense_Mutation_p.D1226N|PTPRM_ENST00000444013.1_Missense_Mutation_p.D1075N|PTPRM_ENST00000580170.1_Missense_Mutation_p.D1301N	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1288	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TATGCTAAATGATGTGGATCC	0.463																																																	0													110.0	99.0	103.0					18																	8380408		2203	4300	6503	SO:0001583	missense	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3862G>A	18.37:g.8380408G>A	ENSP00000331418:p.Asp1288Asn		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.D1302N	ENST00000332175.8	37	c.3904	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	34	5.351940	0.95830	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	5.49	5.49	0.81192	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.22975	0.0555	N	0.11789	0.175	0.80722	D	1	P;P;D	0.76494	0.898;0.951;0.999	P;P;D	0.81914	0.777;0.637;0.995	T	0.16364	-1.0405	10	0.49607	T	0.09	.	19.3775	0.94517	0.0:0.0:1.0:0.0	.	1075;1301;1288	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	N	1288;1302;1226;1075	ENSP00000331418:D1288N;ENSP00000382933:D1302N;ENSP00000382927:D1226N;ENSP00000387608:D1075N	ENSP00000331418:D1288N	D	+	1	0	PTPRM	8370408	1.000000	0.71417	0.984000	0.44739	0.972000	0.66771	9.869000	0.99810	2.588000	0.87417	0.467000	0.42956	GAT	PTPRM	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.463	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	G			8380408	+1	no_errors	ENST00000400060	ensembl	human	known	70_37	missense	SNP	1.000	A
RIC3	79608	genome.wustl.edu	37	11	8160038	8160039	+	Intron	INS	-	-	A	rs375158553|rs58292164		TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr11:8160038_8160039insA	ENST00000309737.6	-	3	351				RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000539720.1_Intron|RIC3_ENST00000343202.4_Intron|RIC3_ENST00000425599.2_Intron			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone						cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		AGAAATAGCTCAAAAAAAAAAA	0.332																																																	0																																										SO:0001627	intron_variant	79608				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.352-144->T	11.37:g.8160049_8160049dupA			B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	RNA	INS	-	NULL	ENST00000309737.6	37	NULL	CCDS55742.1	11																																																																																			RIC3	-	-		0.332	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIC3	HGNC	protein_coding	OTTHUMT00000385900.1	-	NM_024557		8160039	-1	no_errors	ENST00000524799	ensembl	human	known	70_37	rna	INS	0.000:0.000	A
RNF31	55072	genome.wustl.edu	37	14	24619469	24619469	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr14:24619469G>A	ENST00000324103.6	+	7	1329	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	RNF31_ENST00000382687.3_Missense_Mutation_p.E186K|RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000559275.1_Missense_Mutation_p.E186K	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	337	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E337Q(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GTTGGGAACTGAGGGTCCCCA	0.602																																																	1	Substitution - Missense(1)	lung(1)											65.0	72.0	69.0					14																	24619469		1995	4180	6175	SO:0001583	missense	55072			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1009G>A	14.37:g.24619469G>A	ENSP00000315112:p.Glu337Lys		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2	p.E337K	ENST00000324103.6	37	c.1009	CCDS41931.1	14	.	.	.	.	.	.	.	.	.	.	G	6.392	0.440528	0.12104	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.44083	0.93;0.93	4.99	4.09	0.47781	.	0.249907	0.37095	N	0.002254	T	0.36936	0.0985	L	0.44542	1.39	0.09310	N	0.999994	B;B;B	0.32717	0.381;0.247;0.361	B;B;B	0.34652	0.069;0.057;0.187	T	0.30001	-0.9993	10	0.46703	T	0.11	1.6785	12.6595	0.56806	0.0:0.1667:0.8333:0.0	.	152;337;186	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	K	337;186	ENSP00000315112:E337K;ENSP00000372134:E186K	ENSP00000315112:E337K	E	+	1	0	RNF31	23689309	0.771000	0.28555	0.044000	0.18714	0.003000	0.03518	2.984000	0.49353	1.306000	0.44926	-0.175000	0.13238	GAG	RNF31	-	NULL		0.602	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF31	HGNC	protein_coding	OTTHUMT00000071921.3	G	NM_017999		24619469	+1	no_errors	ENST00000324103	ensembl	human	known	70_37	missense	SNP	0.187	A
RSAD1	55316	genome.wustl.edu	37	17	48559580	48559580	+	Silent	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr17:48559580G>A	ENST00000258955.2	+	4	688	c.603G>A	c.(601-603)ccG>ccA	p.P201P		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	201					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGGGGCTGCCGGCACAGCAGG	0.687											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													36.0	39.0	38.0					17																	48559580		2203	4299	6502	SO:0001819	synonymous_variant	55316			AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.603G>A	17.37:g.48559580G>A		955	B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Silent	SNP	pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel	p.P201	ENST00000258955.2	37	c.603	CCDS11569.1	17																																																																																			RSAD1	-	pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel		0.687	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSAD1	HGNC	protein_coding	OTTHUMT00000367413.1	G	NM_018346		48559580	+1	no_errors	ENST00000258955	ensembl	human	known	70_37	silent	SNP	0.005	A
SEMA4B	10509	genome.wustl.edu	37	15	90767093	90767093	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr15:90767093C>G	ENST00000411539.2	+	9	1327	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	SEMA4B_ENST00000379122.3_Missense_Mutation_p.S351C|SEMA4B_ENST00000332496.6_Missense_Mutation_p.S356C	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	351	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			ACAGAAGGCTCTGCCGTCTGT	0.572																																																	0													48.0	51.0	50.0					15																	90767093		1933	4115	6048	SO:0001583	missense	10509			AB051532	CCDS45347.1	15q25	2008-07-18						"""Semaphorins"""	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.1067C>G	15.37:g.90767093C>G	ENSP00000394720:p.Ser356Cys		Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.S356C	ENST00000411539.2	37	c.1067	CCDS45347.1	15	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969466	0.74246	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.24723	1.84;1.84;1.84	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.66567	0.2802	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79269	-0.1873	10	0.87932	D	0	.	17.5304	0.87813	0.0:1.0:0.0:0.0	.	356;351	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	C	356;351;356	ENSP00000332204:S356C;ENSP00000368417:S351C;ENSP00000394720:S356C	ENSP00000332204:S356C	S	+	2	0	SEMA4B	88568097	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	7.620000	0.83070	2.551000	0.86045	0.591000	0.81541	TCT	SEMA4B	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.572	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000416810.1	C	NM_198925		90767093	+1	no_errors	ENST00000332496	ensembl	human	known	70_37	missense	SNP	1.000	G
SGIP1	84251	genome.wustl.edu	37	1	67139031	67139031	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:67139031G>C	ENST00000371037.4	+	12	705	c.628G>C	c.(628-630)Gat>Cat	p.D210H	SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371039.1_Missense_Mutation_p.D178H|SGIP1_ENST00000237247.6_Missense_Mutation_p.D214H|SGIP1_ENST00000371035.3_Missense_Mutation_p.D167H|SGIP1_ENST00000371036.3_Missense_Mutation_p.D177H|AL139147.1_ENST00000502413.2_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	210	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATCAGCTTTTGATGAACAGAA	0.358																																																	0													152.0	157.0	156.0					1																	67139031		2203	4300	6503	SO:0001583	missense	84251			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.628G>C	1.37:g.67139031G>C	ENSP00000360076:p.Asp210His		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.D214H	ENST00000371037.4	37	c.640	CCDS30744.1	1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.579011	0.65878	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.03124	4.04;4.04;4.04;4.04;4.04;4.04	5.73	5.73	0.89815	.	0.145674	0.64402	D	0.000009	T	0.01592	0.0051	N	0.19112	0.55	0.25188	N	0.990159	B	0.32693	0.38	B	0.38106	0.265	T	0.47898	-0.9081	10	0.41790	T	0.15	-18.9854	12.8121	0.57645	0.0788:0.0:0.9211:0.0	.	210	Q9BQI5	SGIP1_HUMAN	H	214;178;202;167;213;213;177;210	ENSP00000237247:D214H;ENSP00000360078:D178H;ENSP00000410439:D202H;ENSP00000360074:D167H;ENSP00000360075:D177H;ENSP00000360076:D210H	ENSP00000237247:D214H	D	+	1	0	SGIP1	66911619	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.505000	0.60421	2.718000	0.92993	0.650000	0.86243	GAT	SGIP1	-	NULL		0.358	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	G	NM_032291		67139031	+1	no_errors	ENST00000237247	ensembl	human	known	70_37	missense	SNP	1.000	C
SETDB1	9869	genome.wustl.edu	37	1	150935585	150935585	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:150935585G>T	ENST00000271640.5	+	19	3617	c.3427G>T	c.(3427-3429)Gat>Tat	p.D1143Y	RP11-316M1.12_ENST00000560481.1_RNA|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000345896.4_5'Flank|SETDB1_ENST00000368969.4_Missense_Mutation_p.D1143Y	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1143	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCTGAAGGGGATGACTTTGA	0.478																																																	0													81.0	71.0	75.0					1																	150935585		2203	4300	6503	SO:0001583	missense	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3427G>T	1.37:g.150935585G>T	ENSP00000271640:p.Asp1143Tyr		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.D1143Y	ENST00000271640.5	37	c.3427	CCDS44217.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293345	0.80914	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;T	0.88201	-2.35;-2.35;0.84	5.55	5.55	0.83447	SET domain (3);	0.151410	0.64402	D	0.000013	D	0.85256	0.5655	N	0.14661	0.345	0.80722	D	1	D;P;P	0.53885	0.963;0.785;0.911	P;B;P	0.55222	0.771;0.26;0.58	D	0.87775	0.2608	10	0.56958	D	0.05	.	19.4962	0.95073	0.0:0.0:1.0:0.0	.	1143;1143;1143	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	Y	1143	ENSP00000271640:D1143Y;ENSP00000357965:D1143Y;ENSP00000432348:D1143Y	ENSP00000271640:D1143Y	D	+	1	0	SETDB1	149202209	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.530000	0.73816	2.634000	0.89283	0.561000	0.74099	GAT	SETDB1	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.478	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	G			150935585	+1	no_errors	ENST00000271640	ensembl	human	known	70_37	missense	SNP	1.000	T
SIGLEC11	114132	genome.wustl.edu	37	19	50464184	50464184	+	Missense_Mutation	SNP	T	T	C	rs200296439		TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr19:50464184T>C	ENST00000447370.2	-	2	175	c.85A>G	c.(85-87)Aac>Gac	p.N29D	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.N29D|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	29					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGATCCTTGTTCAGGGACCCT	0.672																																																	0								T	ASP/ASN,ASP/ASN	2,3974		0,2,1986	4.0	4.0	4.0		85,85	-4.8	0.0	19		4	1,7693		0,1,3846	no	missense,missense	SIGLEC11	NM_001135163.1,NM_052884.2	23,23	0,3,5832	CC,CT,TT		0.013,0.0503,0.0257	benign,benign	29/603,29/699	50464184	3,11667	1988	3847	5835	SO:0001583	missense	114132			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.85A>G	19.37:g.50464184T>C	ENSP00000412361:p.Asn29Asp			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.N29D	ENST00000447370.2	37	c.85	CCDS12790.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.733|0.733	-0.779252|-0.779252	0.02929|0.02929	5.03E-4|5.03E-4	1.3E-4|1.3E-4	ENSG00000161640|ENSG00000161640	ENST00000447370;ENST00000458019|ENST00000426971	T|.	0.52983|.	0.64|.	2.39|2.39	-4.77|-4.77	0.03219|0.03219	.|.	1.936730|.	0.02547|.	N|.	0.095258|.	T|.	0.13970|.	0.0338|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;B|.	0.43662|.	0.814;0.331|.	B;B|.	0.41988|.	0.372;0.059|.	T|.	0.21314|.	-1.0249|.	10|.	0.54805|.	T|.	0.06|.	.|.	6.0612|6.0612	0.19839|0.19839	0.0:0.3888:0.2039:0.4074|0.0:0.3888:0.2039:0.4074	.|.	29;29|.	Q96RL6-2;Q96RL6|.	.;SIG11_HUMAN|.	D|W	29|18	ENSP00000412361:N29D|.	ENSP00000412361:N29D|.	N|X	-|-	1|3	0|0	SIGLEC11|SIGLEC11	55155996|55155996	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.746000|-0.746000	0.04829|0.04829	-2.129000|-2.129000	0.00817|0.00817	-0.488000|-0.488000	0.04728|0.04728	AAC|TGA	SIGLEC11	-	NULL		0.672	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC11	HGNC	protein_coding	OTTHUMT00000347382.1	T	NM_052884		50464184	-1	no_errors	ENST00000447370	ensembl	human	known	70_37	missense	SNP	0.000	C
SLC17A1	6568	genome.wustl.edu	37	6	25826752	25826752	+	Silent	SNP	C	C	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr6:25826752C>T	ENST00000244527.4	-	3	259	c.144G>A	c.(142-144)gtG>gtA	p.V48V	SLC17A1_ENST00000468082.1_Silent_p.V48V|SLC17A1_ENST00000427328.1_Silent_p.V48V|SLC17A1_ENST00000476801.1_Silent_p.V48V	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	48					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						CTGTGCTATTCACCATGACTA	0.413																																																	0													206.0	181.0	190.0					6																	25826752		2203	4300	6503	SO:0001819	synonymous_variant	6568				CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.144G>A	6.37:g.25826752C>T			A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt	p.V48	ENST00000244527.4	37	c.144	CCDS4565.1	6																																																																																			SLC17A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt		0.413	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A1	HGNC	protein_coding	OTTHUMT00000043647.2	C			25826752	-1	no_errors	ENST00000244527	ensembl	human	known	70_37	silent	SNP	1.000	T
SNTA1	6640	genome.wustl.edu	37	20	32000556	32000556	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr20:32000556T>C	ENST00000217381.2	-	4	1005	c.734A>G	c.(733-735)gAc>gGc	p.D245G		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	245	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						GAAGAGGGTGTCTTGACCATC	0.597																																																	0													43.0	31.0	35.0					20																	32000556		2203	4300	6503	SO:0001583	missense	6640			U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.734A>G	20.37:g.32000556T>C	ENSP00000217381:p.Asp245Gly		A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.D245G	ENST00000217381.2	37	c.734	CCDS13220.1	20	.	.	.	.	.	.	.	.	.	.	t	11.99	1.803104	0.31869	.	.	ENSG00000101400	ENST00000217381	T	0.55588	0.51	4.98	3.88	0.44766	Pleckstrin homology domain (2);	0.053036	0.64402	D	0.000001	T	0.42899	0.1223	L	0.39898	1.24	0.37255	D	0.906719	B;B	0.22909	0.077;0.001	B;B	0.35655	0.207;0.008	T	0.33033	-0.9884	10	0.21014	T	0.42	-8.2896	5.4651	0.16637	0.1946:0.0851:0.0:0.7203	.	245;245	B4DX40;Q13424	.;SNTA1_HUMAN	G	245	ENSP00000217381:D245G	ENSP00000217381:D245G	D	-	2	0	SNTA1	31464217	0.024000	0.19004	0.996000	0.52242	0.838000	0.47535	2.206000	0.42779	0.757000	0.33036	0.454000	0.30748	GAC	SNTA1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.597	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTA1	HGNC	protein_coding	OTTHUMT00000078704.2	T	NM_003098		32000556	-1	no_errors	ENST00000217381	ensembl	human	known	70_37	missense	SNP	0.962	C
SSX7	280658	genome.wustl.edu	37	X	52681347	52681347	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chrX:52681347G>T	ENST00000298181.5	-	4	393	c.235C>A	c.(235-237)Ctc>Atc	p.L79I		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	79	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TTCCCCTGGAGGTCTGTGGCC	0.493																																																	0													168.0	151.0	156.0					X																	52681347		2203	4300	6503	SO:0001583	missense	280658			BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.235C>A	X.37:g.52681347G>T	ENSP00000298181:p.Leu79Ile			Missense_Mutation	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.L79I	ENST00000298181.5	37	c.235	CCDS14343.1	X	.	.	.	.	.	.	.	.	.	.	N	1.436	-0.569026	0.03910	.	.	ENSG00000187754	ENST00000298181	T	0.08458	3.09	0.725	-1.45	0.08828	Krueppel-associated box (1);Krueppel-associated box-related (1);	1.020160	0.07837	N	0.962333	T	0.04137	0.0115	N	0.14661	0.345	0.09310	N	1	B	0.20164	0.042	B	0.23150	0.044	T	0.42832	-0.9428	9	0.30854	T	0.27	.	.	.	.	.	79	Q7RTT5	SSX7_HUMAN	I	79	ENSP00000298181:L79I	ENSP00000298181:L79I	L	-	1	0	SSX7	52698072	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.000000	0.12993	-1.882000	0.01122	-2.346000	0.00244	CTC	SSX7	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel		0.493	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	SSX7	HGNC	protein_coding	OTTHUMT00000056671.1	G	NM_173358		52681347	-1	no_errors	ENST00000298181	ensembl	human	known	70_37	missense	SNP	0.000	T
STK31	56164	genome.wustl.edu	37	7	23768836	23768836	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr7:23768836C>T	ENST00000355870.3	+	6	570	c.451C>T	c.(451-453)Cct>Tct	p.P151S	STK31_ENST00000428484.1_Missense_Mutation_p.P128S|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Missense_Mutation_p.P128S|STK31_ENST00000433467.2_Missense_Mutation_p.P151S	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	151						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ACTACACATTCCTTCTGATCA	0.328																																																	0													82.0	85.0	84.0					7																	23768836		2203	4300	6503	SO:0001583	missense	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.451C>T	7.37:g.23768836C>T	ENSP00000348132:p.Pro151Ser		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	pfam_Tudor,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_cat_dom	p.P151S	ENST00000355870.3	37	c.451	CCDS5386.1	7	.	.	.	.	.	.	.	.	.	.	c	17.76	3.468331	0.63625	.	.	ENSG00000196335	ENST00000355870;ENST00000422637;ENST00000456014;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T;T;T	0.62639	0.01;1.45;1.83;0.01;0.01;0.01	5.97	5.97	0.96955	.	0.132416	0.52532	D	0.000065	T	0.48277	0.1491	N	0.19112	0.55	0.38969	D	0.9587	P;P	0.42692	0.787;0.787	B;B	0.37091	0.241;0.241	T	0.53422	-0.8441	10	0.40728	T	0.16	-13.6089	17.3377	0.87286	0.0:1.0:0.0:0.0	.	151;151	B4DZ06;Q9BXU1	.;STK31_HUMAN	S	151;107;128;151;128;128	ENSP00000348132:P151S;ENSP00000414087:P107S;ENSP00000389340:P128S;ENSP00000411852:P151S;ENSP00000346660:P128S;ENSP00000406146:P128S	ENSP00000346660:P128S	P	+	1	0	STK31	23735361	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.833000	0.55790	2.823000	0.97156	0.591000	0.81541	CCT	STK31	-	NULL		0.328	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK31	HGNC	protein_coding	OTTHUMT00000214036.2	C	NM_031414		23768836	+1	no_errors	ENST00000355870	ensembl	human	known	70_37	missense	SNP	1.000	T
TAS2R43	259289	genome.wustl.edu	37	12	11244372	11244372	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr12:11244372C>G	ENST00000531678.1	-	1	540	c.457G>C	c.(457-459)Gtg>Ctg	p.V153L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	153					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TTTGTCCGCACAATCTCATTC	0.363																																																	0													72.0	61.0	65.0					12																	11244372		1895	3703	5598	SO:0001583	missense	259289			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.457G>C	12.37:g.11244372C>G	ENSP00000431719:p.Val153Leu		P59546|Q645X4	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.V153L	ENST00000531678.1	37	c.457	CCDS53749.1	12	.	.	.	.	.	.	.	.	.	.	-	2.832	-0.242453	0.05906	.	.	ENSG00000255374	ENST00000531678	T	0.37235	1.21	2.01	-4.03	0.04021	.	.	.	.	.	T	0.23572	0.0570	L	0.42632	1.34	0.09310	N	1	B	0.06786	0.001	B	0.18263	0.021	T	0.26538	-1.0100	9	0.41790	T	0.15	.	2.6712	0.05067	0.3807:0.1601:0.0:0.4592	.	153	P59537	T2R43_HUMAN	L	153	ENSP00000431719:V153L	ENSP00000431719:V153L	V	-	1	0	TAS2R43	11135639	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.608000	0.00887	-1.086000	0.03084	-1.098000	0.02139	GTG	TAS2R43	-	pfam_TAS2_rcpt		0.363	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R43	HGNC	protein_coding	OTTHUMT00000383561.1	C	NM_176884		11244372	-1	no_errors	ENST00000531678	ensembl	human	known	70_37	missense	SNP	0.000	G
TIE1	7075	genome.wustl.edu	37	1	43779725	43779726	+	Intron	DEL	TG	TG	-	rs138876276		TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:43779725_43779726delTG	ENST00000372476.3	+	14	2488				TIE1_ENST00000433781.2_Intron|TIE1_ENST00000473014.1_Intron	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1						angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTGTACACCTtgtgtgtgtgtg	0.436																																																	0																																										SO:0001627	intron_variant	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2409+86TG>-	1.37:g.43779735_43779736delTG			B5A949|B5A950	RNA	DEL	-	NULL	ENST00000372476.3	37	NULL	CCDS482.1	1																																																																																			TIE1	-	-		0.436	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	TG	NM_005424		43779726	+1	no_errors	ENST00000471187	ensembl	human	known	70_37	rna	DEL	0.002:0.002	-
TSPAN8	7103	genome.wustl.edu	37	12	71537959	71537959	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr12:71537959C>A	ENST00000393330.2	-	6	647	c.95G>T	c.(94-96)tGg>tTg	p.W32L	TSPAN8_ENST00000247829.3_Missense_Mutation_p.W32L|TSPAN8_ENST00000546561.1_Missense_Mutation_p.W32L|TSPAN8_ENST00000552786.1_5'UTR			P19075	TSN8_HUMAN	tetraspanin 8	32					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TACTCGTACCCATATTGCTAA	0.328																																																	0													135.0	122.0	126.0					12																	71537959		2203	4300	6503	SO:0001583	missense	7103			M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"""Tetraspanins"""	11855	protein-coding gene	gene with protein product		600769	"""transmembrane 4 superfamily member 3"""	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.95G>T	12.37:g.71537959C>A	ENSP00000377003:p.Trp32Leu		B2R7T7|Q9BS78	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.W32L	ENST00000393330.2	37	c.95	CCDS8999.1	12	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622765	0.46840	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561	T;T;T	0.81078	-1.45;-1.45;-1.45	5.37	3.49	0.39957	.	0.327837	0.34986	N	0.003523	D	0.85331	0.5672	M	0.76938	2.355	0.80722	D	1	D	0.54601	0.967	P	0.56127	0.792	D	0.86178	0.1604	10	0.66056	D	0.02	.	9.8082	0.40805	0.0:0.7731:0.1452:0.0817	.	32	P19075	TSN8_HUMAN	L	32	ENSP00000377003:W32L;ENSP00000247829:W32L;ENSP00000447160:W32L	ENSP00000247829:W32L	W	-	2	0	TSPAN8	69824226	0.993000	0.37304	0.894000	0.35097	0.135000	0.20990	1.465000	0.35299	1.388000	0.46506	0.655000	0.94253	TGG	TSPAN8	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin		0.328	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN8	HGNC	protein_coding	OTTHUMT00000404737.1	C	NM_004616		71537959	-1	no_errors	ENST00000247829	ensembl	human	known	70_37	missense	SNP	0.972	A
TUBB1	81027	genome.wustl.edu	37	20	57598816	57598816	+	Silent	SNP	C	C	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr20:57598816C>T	ENST00000217133.1	+	4	603	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	112					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGGAGCCGAGCTGATCGAGAA	0.592																																																	0													86.0	94.0	91.0					20																	57598816		2203	4300	6503	SO:0001819	synonymous_variant	81027			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.334C>T	20.37:g.57598816C>T				Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	p.L112	ENST00000217133.1	37	c.334	CCDS13475.1	20																																																																																			TUBB1	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin		0.592	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB1	HGNC	protein_coding	OTTHUMT00000079903.1	C	NM_030773		57598816	+1	no_errors	ENST00000217133	ensembl	human	known	70_37	silent	SNP	1.000	T
UBE2NL	389898	genome.wustl.edu	37	X	142967284	142967284	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chrX:142967284G>A	ENST00000370494.1	+	1	112	c.82G>A	c.(82-84)Gat>Aat	p.D28N		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	28						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGAACCAGATGAAAGCAA	0.507																																																	0													81.0	78.0	79.0					X																	142967284		2203	4300	6503	SO:0001583	missense	389898					Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.82G>A	X.37:g.142967284G>A	ENSP00000359525:p.Asp28Asn		E9KL27	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.D28N	ENST00000370494.1	37	c.82	CCDS35420.1	X	.	.	.	.	.	.	.	.	.	.	G	6.232	0.410988	0.11812	.	.	ENSG00000102069	ENST00000370494	T	0.72942	-0.7	1.1	1.1	0.20463	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.123820	0.29059	U	0.013268	T	0.54255	0.1847	L	0.35414	1.06	0.54753	D	0.999987	B	0.13594	0.008	B	0.22880	0.042	T	0.43410	-0.9393	10	0.27785	T	0.31	0.2815	7.8005	0.29172	0.0:0.0:1.0:0.0	.	28	Q5JXB2	UE2NL_HUMAN	N	28	ENSP00000359525:D28N	ENSP00000359525:D28N	D	+	1	0	UBE2NL	142794950	1.000000	0.71417	0.367000	0.25926	0.006000	0.05464	6.641000	0.74324	0.849000	0.35215	0.190000	0.17370	GAT	UBE2NL	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.507	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2NL	HGNC	protein_coding	OTTHUMT00000058624.1	G	NM_001012989		142967284	+1	no_errors	ENST00000370494	ensembl	human	known	70_37	missense	SNP	1.000	A
USH2A	7399	genome.wustl.edu	37	1	215802256	215802256	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:215802256G>A	ENST00000307340.3	-	71	15805	c.15419C>T	c.(15418-15420)tCt>tTt	p.S5140F	SNORD116_ENST00000365628.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.S5164F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5140					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCGGTGAAGAGAACCCTGGGA	0.557										HNSCC(13;0.011)																																							0													121.0	119.0	120.0					1																	215802256		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15419C>T	1.37:g.215802256G>A	ENSP00000305941:p.Ser5140Phe		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.S5164F	ENST00000307340.3	37	c.15491	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150293	0.37923	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.69175	-0.38;-0.38	5.67	3.75	0.43078	.	0.000000	0.38492	U	0.001666	T	0.73401	0.3582	M	0.71581	2.175	0.19300	N	0.999977	P	0.50710	0.938	P	0.49708	0.62	T	0.69339	-0.5171	10	0.87932	D	0	.	16.1084	0.81241	0.0:0.2532:0.7467:0.0	.	5140	O75445	USH2A_HUMAN	F	5140;5164	ENSP00000305941:S5140F;ENSP00000355910:S5164F	ENSP00000305941:S5140F	S	-	2	0	USH2A	213868879	1.000000	0.71417	0.012000	0.15200	0.088000	0.18126	5.121000	0.64691	0.704000	0.31869	0.591000	0.81541	TCT	USH2A	-	NULL		0.557	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	G	NM_007123		215802256	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.105	A
VWA3A	146177	genome.wustl.edu	37	16	22126785	22126785	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr16:22126785G>A	ENST00000389398.5	+	9	903	c.807G>A	c.(805-807)atG>atA	p.M269I	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	269						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TGGCCATCATGAGAAGCTGGT	0.473																																																	0													34.0	35.0	34.0					16																	22126785		1930	4134	6064	SO:0001583	missense	146177			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.807G>A	16.37:g.22126785G>A	ENSP00000374049:p.Met269Ile		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.M269I	ENST00000389398.5	37	c.807	CCDS45441.1	16	.	.	.	.	.	.	.	.	.	.	G	2.991	-0.208168	0.06180	.	.	ENSG00000175267	ENST00000310694;ENST00000389398	T	0.08102	3.13	5.51	4.36	0.52297	.	0.322831	0.30401	N	0.009712	T	0.06962	0.0177	L	0.38838	1.175	0.49213	D	0.999764	B	0.02656	0.0	B	0.10450	0.005	T	0.27673	-1.0067	10	0.17369	T	0.5	.	10.392	0.44179	0.1677:0.0:0.8323:0.0	.	269	A6NCI4	VWA3A_HUMAN	I	169;269	ENSP00000374049:M269I	ENSP00000308827:M169I	M	+	3	0	VWA3A	22034286	1.000000	0.71417	0.694000	0.30210	0.238000	0.25445	1.375000	0.34295	2.592000	0.87571	0.596000	0.82720	ATG	VWA3A	-	NULL		0.473	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	G			22126785	+1	no_errors	ENST00000389398	ensembl	human	known	70_37	missense	SNP	0.414	A
VWF	7450	genome.wustl.edu	37	12	6128535	6128535	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr12:6128535G>A	ENST00000261405.5	-	28	4303	c.4049C>T	c.(4048-4050)gCg>gTg	p.A1350V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1350	VWFA 1; binding site for platelet glycoprotein Ib. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGGCTGCCCGCATACTTCAC	0.622																																																	0													53.0	49.0	50.0					12																	6128535		2203	4300	6503	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4049C>T	12.37:g.6128535G>A	ENSP00000261405:p.Ala1350Val		Q8TCE8|Q99806	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.A1350V	ENST00000261405.5	37	c.4049	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	.	13.08	2.130196	0.37630	.	.	ENSG00000110799	ENST00000261405	D	0.83250	-1.7	4.98	2.92	0.33932	von Willebrand factor, type A (3);	0.748356	0.11455	N	0.562407	T	0.70456	0.3226	L	0.27975	0.815	0.80722	D	1	B	0.25486	0.127	B	0.17722	0.019	T	0.57335	-0.7829	10	0.22706	T	0.39	.	8.7741	0.34751	0.2319:0.0:0.7681:0.0	.	1350	P04275	VWF_HUMAN	V	1350	ENSP00000261405:A1350V	ENSP00000261405:A1350V	A	-	2	0	VWF	5998796	0.257000	0.24022	0.909000	0.35828	0.911000	0.54048	1.076000	0.30729	0.508000	0.28173	0.555000	0.69702	GCG	VWF	-	pfam_VWF_A,smart_VWF_A,pirsf_VWF,pfscan_VWF_A		0.622	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	G	NM_000552		6128535	-1	no_errors	ENST00000261405	ensembl	human	known	70_37	missense	SNP	0.767	A
CFAP43	80217	genome.wustl.edu	37	10	105956648	105956648	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr10:105956648T>C	ENST00000278064.2	-	10	1374	c.1049A>G	c.(1048-1050)gAt>gGt	p.D350G	WDR96_ENST00000369720.1_Missense_Mutation_p.D350G|WDR96_ENST00000428666.1_Missense_Mutation_p.D420G|WDR96_ENST00000357060.3_Missense_Mutation_p.D419G																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACAAGCACAATCCTCCAGCCA	0.313																																																	0													63.0	62.0	63.0					10																	105956648		2203	4299	6502	SO:0001583	missense	80217																														ENST00000278064.2:c.1049A>G	10.37:g.105956648T>C	ENSP00000278064:p.Asp350Gly			Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	p.D419G	ENST00000278064.2	37	c.1256		10	.	.	.	.	.	.	.	.	.	.	T	13.20	2.165677	0.38217	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720	T;T;T;T	0.29655	1.56;1.56;1.56;1.57	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.173971	0.27686	N	0.018279	T	0.46308	0.1386	M	0.76002	2.32	0.37048	D	0.897447	D;B	0.63046	0.992;0.207	P;B	0.56563	0.801;0.156	T	0.52320	-0.8591	10	0.25106	T	0.35	.	11.6888	0.51503	0.0:0.0:0.0:1.0	.	420;419	B4DHB6;Q8NDM7	.;WDR96_HUMAN	G	419;420;350;350	ENSP00000349568:D419G;ENSP00000400289:D420G;ENSP00000278064:D350G;ENSP00000358734:D350G	ENSP00000278064:D350G	D	-	2	0	WDR96	105946638	0.729000	0.28090	0.383000	0.26132	0.400000	0.30750	3.705000	0.54823	2.068000	0.61886	0.528000	0.53228	GAT	WDR96	-	superfamily_WD40_repeat_dom		0.313	WDR96-003	KNOWN	basic	protein_coding	WDR96	HGNC	protein_coding	OTTHUMT00000050200.1	T			105956648	-1	no_errors	ENST00000357060	ensembl	human	known	70_37	missense	SNP	0.873	C
XKR4	114786	genome.wustl.edu	37	8	56436429	56436429	+	Silent	SNP	C	C	T			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr8:56436429C>T	ENST00000327381.6	+	3	1696	c.1596C>T	c.(1594-1596)gcC>gcT	p.A532A	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	532						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AGGACCCAGCCGCTGCCTTCA	0.527																																																	0													69.0	65.0	66.0					8																	56436429		2203	4300	6503	SO:0001819	synonymous_variant	114786			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1596C>T	8.37:g.56436429C>T			Q96PZ8	Silent	SNP	pfam_Transport_prot_XK	p.A532	ENST00000327381.6	37	c.1596	CCDS34893.1	8																																																																																			XKR4	-	NULL		0.527	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	C	NM_052898		56436429	+1	no_errors	ENST00000327381	ensembl	human	known	70_37	silent	SNP	0.000	T
ZNF138	7697	genome.wustl.edu	37	7	64292514	64292514	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr7:64292514G>C	ENST00000359735.3	+	4	1070	c.723G>C	c.(721-723)caG>caC	p.Q241H	ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000397136.2_Missense_Mutation_p.Q241H|ZNF138_ENST00000437743.1_Missense_Mutation_p.Q266H|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000307355.7_Missense_Mutation_p.Q298H|ZNF138_ENST00000440155.2_Missense_Mutation_p.Q272H	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	P52744	ZN138_HUMAN	zinc finger protein 138	241					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)			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				CTAAACATCAGATAATTTATA	0.353																																																	0													38.0	41.0	40.0					7																	64292514		2189	4294	6483	SO:0001583	missense	7697			U09847	CCDS34645.1, CCDS34645.2, CCDS55115.1, CCDS64659.1, CCDS64660.1, CCDS64661.1, CCDS75607.1	7q11.21	2013-01-08	2005-07-11		ENSG00000197008	ENSG00000197008		"""Zinc fingers, C2H2-type"", ""-"""	12922	protein-coding gene	gene with protein product		604080	"""zinc finger protein 138 (clone pHZ-32)"""				Standard	NM_006524		Approved	pHZ-32	uc031sxl.1	P52744	OTTHUMG00000156603	ENST00000359735.3:c.723G>C	7.37:g.64292514G>C	ENSP00000352770:p.Gln241His		B4DFX2|B4DP87|E9PHI7|E9PHK7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q241H	ENST00000359735.3	37	c.723		7	.	.	.	.	.	.	.	.	.	.	.	6.237	0.411815	0.11812	.	.	ENSG00000197008	ENST00000307355;ENST00000359735;ENST00000440155;ENST00000437743;ENST00000397136	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29556	0.0737	M	0.88704	2.975	0.09310	N	1	B;B;B	0.27140	0.169;0.169;0.169	B;B;B	0.37601	0.254;0.254;0.254	T	0.35450	-0.9788	9	0.54805	T	0.06	.	6.9971	0.24789	0.0:0.0:1.0:0.0	.	272;266;241	E9PHI7;E7EWC5;P52744	.;.;ZN138_HUMAN	H	298;241;272;266;241	ENSP00000303533:Q298H;ENSP00000352770:Q241H;ENSP00000407262:Q272H;ENSP00000399528:Q266H;ENSP00000380325:Q241H	ENSP00000303533:Q298H	Q	+	3	2	ZNF138	63929949	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.574000	0.23714	0.192000	0.20272	0.195000	0.17529	CAG	ZNF138	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.353	ZNF138-201	KNOWN	basic	protein_coding	ZNF138	HGNC	protein_coding		G	NM_006524		64292514	+1	no_errors	ENST00000359735	ensembl	human	known	70_37	missense	SNP	0.266	C
