#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_annotation_transcript	i_build	i_ccds_id	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_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_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
BPIFA2	140683	hgsc.bcm.edu;ucsc.edu	37	20	31761897	31761897	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr20:31761897C>A	ENST00000253362.2	+	4	461	c.315C>A	c.(313-315)agC>agA	p.S105R	BPIFA2_ENST00000354932.5_Missense_Mutation_p.S105R			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	105						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										TGAAAATCAGCAACTCCCTCA	0.542																																																	0													173.0	117.0	136.0					20																	31761897		2203	4300	6503	SO:0001583	missense	0			AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"""BPI fold containing"""	16203	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 70"""	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.315C>A	20.37:g.31761897C>A	ENSP00000253362:p.Ser105Arg		Q9BQQ0	Missense_Mutation	SNP	ENST00000253362.2	37	CCDS13214.1	.	.	.	.	.	.	.	.	.	.	C	4.213	0.038367	0.08148	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.06218	3.33;3.33	4.11	-0.643	0.11482	.	1.532730	0.03370	N	0.198765	T	0.05181	0.0138	L	0.33485	1.01	0.09310	N	1	B	0.32968	0.392	B	0.35510	0.204	T	0.34551	-0.9824	10	0.12430	T	0.62	-15.8862	2.2899	0.04136	0.414:0.2087:0.0:0.3774	.	105	Q96DR5	BPIA2_HUMAN	R	105	ENSP00000253362:S105R;ENSP00000347012:S105R	ENSP00000253362:S105R	S	+	3	2	BPIFA2	31225558	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.120000	0.03273	-0.090000	0.12462	-0.314000	0.08810	AGC		0.542	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1		NM_080574	
CD151	977	hgsc.bcm.edu	37	11	837500	837500	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr11:837500A>G	ENST00000397420.3	+	7	746	c.497A>G	c.(496-498)gAc>gGc	p.D166G	CD151_ENST00000528011.1_Missense_Mutation_p.D166G|CD151_ENST00000322008.4_Missense_Mutation_p.D166G|CD151_ENST00000397421.1_Missense_Mutation_p.D166G			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	166					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|T cell proliferation (GO:0042098)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACTGGCGAGACAGTGAGTGG	0.622																																					Esophageal Squamous(14;501 559 15826 37823 38305)												0													86.0	80.0	82.0					11																	837500		2202	4298	6500	SO:0001583	missense	977			AL161965, BC013302, D29963	CCDS7719.1	11p15.5	2014-07-18	2006-03-28		ENSG00000177697	ENSG00000177697		"""CD molecules"", ""Blood group antigens"", ""Tetraspanins"""	1630	protein-coding gene	gene with protein product		602243	"""CD151 antigen"", ""CD151 antigen (Raph blood group)"""			9070943	Standard	NM_004357		Approved	SFA-1, PETA-3, TSPAN24, RAPH	uc001lsb.3	P48509	OTTHUMG00000133311	ENST00000397420.3:c.497A>G	11.37:g.837500A>G	ENSP00000380565:p.Asp166Gly		A8KAK8|E9PI15|Q14826|Q86U54|Q96TE3	Missense_Mutation	SNP	ENST00000397420.3	37	CCDS7719.1	.	.	.	.	.	.	.	.	.	.	A	8.948	0.967382	0.18659	.	.	ENSG00000177697	ENST00000397420;ENST00000322008;ENST00000397421;ENST00000529810;ENST00000528143;ENST00000526693;ENST00000524748;ENST00000527341;ENST00000530320;ENST00000528011	T;T;T;T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	4.41	4.41	0.53225	Tetraspanin, EC2 domain (1);	0.242015	0.47852	D	0.000216	T	0.74876	0.3774	L	0.48986	1.54	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	T	0.70475	-0.4861	10	0.29301	T	0.29	.	13.4745	0.61301	1.0:0.0:0.0:0.0	.	166	P48509	CD151_HUMAN	G	166;166;166;141;42;166;166;166;166;166	ENSP00000380565:D166G;ENSP00000324101:D166G;ENSP00000380566:D166G;ENSP00000432258:D141G;ENSP00000435054:D166G;ENSP00000431403:D166G;ENSP00000436591:D166G;ENSP00000433787:D166G;ENSP00000432990:D166G	ENSP00000324101:D166G	D	+	2	0	CD151	827500	1.000000	0.71417	0.918000	0.36340	0.443000	0.32047	5.845000	0.69437	1.856000	0.53863	0.459000	0.35465	GAC		0.622	CD151-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257108.1		NM_004357	
COL4A3	1285	hgsc.bcm.edu;ucsc.edu	37	2	228163409	228163409	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr2:228163409C>A	ENST00000396578.3	+	43	3925	c.3763C>A	c.(3763-3765)Ccc>Acc	p.P1255T	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|COL4A3_ENST00000468753.1_3'UTR|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1255	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TGCGCCTGGTCCCCCTGGACC	0.488																																																	0													64.0	66.0	65.0					2																	228163409		1865	4117	5982	SO:0001583	missense	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.3763C>A	2.37:g.228163409C>A	ENSP00000379823:p.Pro1255Thr		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	C	7.129	0.579527	0.13686	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.96856	-4.15	5.28	4.41	0.53225	.	0.354597	0.24628	N	0.036904	D	0.93798	0.8017	L	0.55834	1.745	0.32029	N	0.59982	P;P;P;B	0.51351	0.944;0.728;0.557;0.267	P;B;B;B	0.47981	0.563;0.294;0.178;0.086	D	0.90781	0.4679	10	0.13853	T	0.58	.	5.4067	0.16326	0.1622:0.6704:0.0:0.1674	.	1255;1255;1255;1255	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	T	1255	ENSP00000379823:P1255T	ENSP00000323334:P1255T	P	+	1	0	COL4A3	227871653	0.014000	0.17966	0.982000	0.44146	0.539000	0.34962	0.539000	0.23175	1.383000	0.46405	0.467000	0.42956	CCC		0.488	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2		NM_000091	
CUBN	8029	hgsc.bcm.edu	37	10	17169882	17169882	+	Silent	SNP	A	A	G			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr10:17169882A>G	ENST00000377833.4	-	3	359	c.294T>C	c.(292-294)agT>agC	p.S98S	CUBN_ENST00000377823.1_Silent_p.S98S	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	98					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GACCAATTGCACTCCCTTTTA	0.323																																																	0													208.0	204.0	206.0					10																	17169882		2202	4300	6502	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.294T>C	10.37:g.17169882A>G			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.323	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081	
CXorf23	256643	hgsc.bcm.edu	37	X	19971168	19971168	+	Splice_Site	SNP	T	T	C			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chrX:19971168T>C	ENST00000379682.4	-	6	1600	c.1567A>G	c.(1567-1569)Aga>Gga	p.R523G	CXorf23_ENST00000356980.3_Splice_Site_p.R523G|CXorf23_ENST00000379687.3_Splice_Site_p.R523G			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	523						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						ATATCTATTCTCCTAAAATAA	0.303																																																	0													57.0	57.0	57.0					X																	19971168		2203	4300	6503	SO:0001630	splice_region_variant	256643			AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.1566-1A>G	X.37:g.19971168T>C			A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.56|16.56	3.157788|3.157788	0.57368|0.57368	.|.	.|.	ENSG00000173681|ENSG00000173681	ENST00000340625|ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038	.|T;T;T	.|0.28454	.|1.61;1.61;1.61	5.97|5.97	4.8|4.8	0.61643|0.61643	.|.	.|.	.|.	.|.	.|.	T|T	0.52853|0.52853	0.1760|0.1760	M|M	0.78049|0.78049	2.395|2.395	0.32874|0.32874	D|D	0.509621|0.509621	.|D;D;D	.|0.69078	.|0.997;0.997;0.997	.|D;D;D	.|0.65443	.|0.935;0.913;0.913	T|T	0.66139|0.66139	-0.5998|-0.5998	5|8	.|.	.|.	.|.	.|.	11.0422|11.0422	0.47838|0.47838	0.0:0.0:0.1575:0.8425|0.0:0.0:0.1575:0.8425	.|.	.|234;523;523	.|B7ZLM9;A2AJT9-2;A2AJT9	.|.;.;CX023_HUMAN	G|G	131|523;523;523;411	.|ENSP00000369009:R523G;ENSP00000369004:R523G;ENSP00000349470:R523G	.|.	E|R	-|-	2|1	0|2	CXorf23|CXorf23	19881089|19881089	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	2.148000|2.148000	0.42235|0.42235	0.850000|0.850000	0.35239|0.35239	0.486000|0.486000	0.48141|0.48141	GAG|AGA		0.303	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2		NM_198279	Missense_Mutation
DAPP1	27071	hgsc.bcm.edu	37	4	100738085	100738085	+	Silent	SNP	A	A	G			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr4:100738085A>G	ENST00000512369.1	+	1	83	c.15A>G	c.(13-15)gaA>gaG	p.E5E	DAPP1_ENST00000296414.7_Silent_p.E5E	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	5					protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		GCAGAGCAGAACTTCTAGAAG	0.567																																																	0													44.0	48.0	47.0					4																	100738085		1991	4167	6158	SO:0001819	synonymous_variant	27071			AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.15A>G	4.37:g.100738085A>G			Q8TCK5|Q9UHF2	Silent	SNP	ENST00000512369.1	37	CCDS47112.1																																																																																				0.567	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1			
DLEC1	9940	hgsc.bcm.edu	37	3	38139264	38139264	+	Silent	SNP	C	C	A			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr3:38139264C>A	ENST00000308059.6	+	18	2616	c.2595C>A	c.(2593-2595)gcC>gcA	p.A865A	DLEC1_ENST00000346219.3_Silent_p.A865A|DLEC1_ENST00000452631.2_Silent_p.A865A					deleted in lung and esophageal cancer 1									p.A865A(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACGTCTCAGCCCTTCAGTTTG	0.627																																																	1	Substitution - coding silent(1)	central_nervous_system(1)											64.0	70.0	68.0					3																	38139264		2088	4201	6289	SO:0001819	synonymous_variant	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2595C>A	3.37:g.38139264C>A				Silent	SNP	ENST00000308059.6	37	CCDS2672.2																																																																																				0.627	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3		NM_007337	
DNAH5	1767	hgsc.bcm.edu;ucsc.edu	37	5	13883135	13883135	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr5:13883135T>A	ENST00000265104.4	-	20	3156	c.3052A>T	c.(3052-3054)Att>Ttt	p.I1018F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1018	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGTTGGGAATGGCCAGAGTG	0.512									Kartagener syndrome																																								0													153.0	139.0	144.0					5																	13883135		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3052A>T	5.37:g.13883135T>A	ENSP00000265104:p.Ile1018Phe		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	19.39	3.819373	0.71028	.	.	ENSG00000039139	ENST00000265104	T	0.25749	1.78	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.40119	0.1104	M	0.90705	3.14	0.80722	D	1	B	0.33477	0.413	B	0.31290	0.127	T	0.41998	-0.9477	10	0.45353	T	0.12	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	1018	Q8TE73	DYH5_HUMAN	F	1018	ENSP00000265104:I1018F	ENSP00000265104:I1018F	I	-	1	0	DNAH5	13936135	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.769000	0.85360	2.313000	0.78055	0.455000	0.32223	ATT		0.512	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369	
DRD3	1814	hgsc.bcm.edu	37	3	113890723	113890723	+	Silent	SNP	G	G	T	rs149122773		TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr3:113890723G>T	ENST00000460779.1	-	3	406	c.117C>A	c.(115-117)ctC>ctA	p.L39L	DRD3_ENST00000383673.2_Silent_p.L39L|DRD3_ENST00000295881.7_Silent_p.L39L|DRD3_ENST00000467632.1_Silent_p.L39L	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	39					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.L39L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGGCCAGGATGAGCGCGCAGT	0.612																																																	1	Substitution - coding silent(1)	skin(1)											70.0	62.0	65.0					3																	113890723		2203	4300	6503	SO:0001819	synonymous_variant	1814				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.117C>A	3.37:g.113890723G>T			A1A4V5|Q4VBM8	Silent	SNP	ENST00000460779.1	37	CCDS2978.1																																																																																				0.612	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1		NM_000796.3	
EGFR	1956	hgsc.bcm.edu	37	7	55259454	55259454	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr7:55259454C>A	ENST00000275493.2	+	21	2689	c.2512C>A	c.(2512-2514)Ctg>Atg	p.L838M	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Missense_Mutation_p.L793M|EGFR_ENST00000454757.2_Missense_Mutation_p.L785M|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	838	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		L -> V (found in a lung cancer sample; more sensitive to gefitinib than wild- type). {ECO:0000269|PubMed:15623594}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.L838V(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GCACCGCGACCTGGCAGCCAG	0.537		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	1	Substitution - Missense(1)	lung(1)											117.0	102.0	107.0					7																	55259454		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2512C>A	7.37:g.55259454C>A	ENSP00000275493:p.Leu838Met		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671846	0.67928	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.74421	-0.84;-0.84;-0.84	5.82	2.62	0.31277	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88295	0.6398	H	0.96015	3.755	0.44085	D	0.996844	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.87429	0.2387	10	0.87932	D	0	.	7.3005	0.26418	0.0:0.5788:0.0:0.4212	.	793;838	Q504U8;P00533	.;EGFR_HUMAN	M	793;708;838;785	ENSP00000415559:L793M;ENSP00000275493:L838M;ENSP00000395243:L785M	ENSP00000275493:L838M	L	+	1	2	EGFR	55226948	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.132000	0.31418	0.779000	0.33543	0.650000	0.86243	CTG		0.537	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2		NM_005228	
GUCY1A2	2977	hgsc.bcm.edu;ucsc.edu	37	11	106558323	106558323	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr11:106558323C>A	ENST00000526355.2	-	8	2619	c.2151G>T	c.(2149-2151)aaG>aaT	p.K717N	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.K748N|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.K738N	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	717					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.K717N(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	TGTAGGAAACCTTTTTTATTC	0.478																																																	1	Substitution - Missense(1)	pancreas(1)											169.0	165.0	166.0					11																	106558323		2201	4298	6499	SO:0001583	missense	2977			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.2151G>T	11.37:g.106558323C>A	ENSP00000431245:p.Lys717Asn		A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139779	0.56936	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.88586	-1.99;-2.4;-2.0	5.38	3.45	0.39498	.	0.000000	0.47093	U	0.000254	D	0.88883	0.6558	L	0.27053	0.805	0.48901	D	0.999724	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.991;0.996;0.991	D	0.85555	0.1224	10	0.30854	T	0.27	.	10.243	0.43324	0.0:0.7672:0.0:0.2328	.	738;748;717	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	N	717;748;738	ENSP00000431245:K717N;ENSP00000282249:K748N;ENSP00000344874:K738N	ENSP00000282249:K748N	K	-	3	2	GUCY1A2	106063533	0.985000	0.35326	1.000000	0.80357	0.960000	0.62799	0.229000	0.17833	0.714000	0.32081	0.305000	0.20034	AAG		0.478	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			
HLA-DRB1	3123	hgsc.bcm.edu	37	6	32552080	32552080	+	Missense_Mutation	SNP	T	T	C	rs3175105	byFrequency	TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr6:32552080T>C	ENST00000360004.5	-	2	281	c.176A>G	c.(175-177)tAc>tGc	p.Y59C		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	59	Beta-1.				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)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GTTATAGAAGTATCTGTCCAG	0.612										Multiple Myeloma(14;0.17)			T|||	356	0.0710863	0.0643	0.1081	5008	,	,		8701	0.0278		0.1262	False		,,,				2504	0.0419																0													34.0	32.0	32.0					6																	32552080		2188	4250	6438	SO:0001583	missense	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.176A>G	6.37:g.32552080T>C	ENSP00000353099:p.Tyr59Cys		P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	8.854	0.945277	0.18356	.	.	ENSG00000196126	ENST00000360004	T	0.00340	8.04	3.52	0.935	0.19483	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	2.114260	0.01732	N	0.028893	T	0.00144	0.0004	M	0.86097	2.795	0.80722	P	0.0	B	0.02656	0.0	B	0.14023	0.01	T	0.50118	-0.8865	9	0.56958	D	0.05	.	4.1879	0.10407	0.1778:0.1067:0.0:0.7155	rs3175105	59	P01911	2B1F_HUMAN	C	59	ENSP00000353099:Y59C	ENSP00000353099:Y59C	Y	-	2	0	HLA-DRB1	32660058	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.243000	0.08915	0.084000	0.17077	-0.587000	0.04127	TAC		0.612	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3		NM_002124	
IRAK1BP1	134728	hgsc.bcm.edu;ucsc.edu	37	6	79607672	79607672	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr6:79607672C>G	ENST00000369940.2	+	3	613	c.508C>G	c.(508-510)Ctt>Gtt	p.L170V	IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.L83V	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	170					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		TGTTGAGAATCTTCGGTAAGT	0.328																																																	0													127.0	123.0	124.0					6																	79607672		2203	4300	6503	SO:0001583	missense	134728			AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.508C>G	6.37:g.79607672C>G	ENSP00000358956:p.Leu170Val			Missense_Mutation	SNP	ENST00000369940.2	37	CCDS34488.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970156	0.74246	.	.	ENSG00000146243	ENST00000369940	.	.	.	5.48	5.48	0.80851	.	0.137812	0.47852	D	0.000206	T	0.76234	0.3959	M	0.78049	2.395	0.48236	D	0.99961	D	0.89917	1.0	D	0.87578	0.998	T	0.76520	-0.2929	8	.	.	.	-7.4473	17.9231	0.88973	0.0:1.0:0.0:0.0	.	170	Q5VVH5	IKBP1_HUMAN	V	170	.	.	L	+	1	0	IRAK1BP1	79664391	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	5.666000	0.68059	2.566000	0.86566	0.655000	0.94253	CTT		0.328	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041296.2		XM_059729	
KANSL3	55683	hgsc.bcm.edu	37	2	97278028	97278028	+	Silent	SNP	C	C	T			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr2:97278028C>T	ENST00000431828.1	-	9	1153	c.1077G>A	c.(1075-1077)gtG>gtA	p.V359V	KANSL3_ENST00000440133.1_Silent_p.V153V|KANSL3_ENST00000599854.1_Silent_p.V272V|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Silent_p.V272V			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	359					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CATGACAGGCCACCAAAGCTC	0.443																																																	0													96.0	91.0	93.0					2																	97278028		1906	4135	6041	SO:0001819	synonymous_variant	0			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1077G>A	2.37:g.97278028C>T			A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Silent	SNP	ENST00000431828.1	37	CCDS46361.1																																																																																				0.443	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2		NM_017991	
LAMB2	3913	hgsc.bcm.edu	37	3	49159423	49159423	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr3:49159423C>T	ENST00000418109.1	-	30	5041	c.4877G>A	c.(4876-4878)cGg>cAg	p.R1626Q	USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398898.2_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.R1626Q|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000453664.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1626	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.R1626P(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACTGCCCCCCGGATGGCACC	0.602																																																	1	Substitution - Missense(1)	ovary(1)											102.0	97.0	99.0					3																	49159423		2203	4300	6503	SO:0001583	missense	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4877G>A	3.37:g.49159423C>T	ENSP00000388325:p.Arg1626Gln		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	9.158	1.018083	0.19355	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.32515	1.45;1.45	5.55	-2.35	0.06684	.	0.943055	0.08994	N	0.864045	T	0.16727	0.0402	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.38200	-0.9672	10	0.07325	T	0.83	.	12.3465	0.55124	0.0:0.4809:0.0:0.5191	.	1626	P55268	LAMB2_HUMAN	Q	1626;1626;350	ENSP00000388325:R1626Q;ENSP00000307156:R1626Q	ENSP00000307156:R1626Q	R	-	2	0	LAMB2	49134427	0.000000	0.05858	0.884000	0.34674	0.972000	0.66771	-0.391000	0.07323	-0.681000	0.05204	-0.140000	0.14226	CGG		0.602	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1		NM_002292	
CERS2	29956	hgsc.bcm.edu;ucsc.edu	37	1	150938648	150938648	+	Silent	SNP	A	A	G			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr1:150938648A>G	ENST00000271688.6	-	11	1505	c.1119T>C	c.(1117-1119)aaT>aaC	p.N373N	CERS2_ENST00000368954.5_Silent_p.N373N|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Intron|RP11-316M1.12_ENST00000560481.1_RNA|RP11-316M1.12_ENST00000561111.1_RNA	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	373					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GATGGTTGTTATTGAGGATGG	0.562																																																	0													136.0	129.0	131.0					1																	150938648		2203	4300	6503	SO:0001819	synonymous_variant	0			AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.1119T>C	1.37:g.150938648A>G			D3DV06|Q5SZE5|Q9HD96|Q9NW79	Silent	SNP	ENST00000271688.6	37	CCDS973.1																																																																																				0.562	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2		NM_022075	
MANBAL	63905	hgsc.bcm.edu	37	20	35929689	35929692	+	Frame_Shift_Del	DEL	CACC	CACC	-			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	CACC	CACC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr20:35929689_35929692delCACC	ENST00000373605.3	+	3	835_838	c.23_26delCACC	c.(22-27)tcacctfs	p.SP8fs	MANBAL_ENST00000397150.1_Frame_Shift_Del_p.SP8fs|MANBAL_ENST00000397151.1_Frame_Shift_Del_p.SP8fs|MANBAL_ENST00000397156.3_Frame_Shift_Del_p.SP8fs|MANBAL_ENST00000397152.3_Frame_Shift_Del_p.SP8fs|MANBAL_ENST00000373606.3_Frame_Shift_Del_p.SP8fs			Q9NQG1	MANBL_HUMAN	mannosidase, beta A, lysosomal-like	8						integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(115;0.00878)				CTAGACTTCTCACCTCCGGAGGTG	0.549																																																	0																																										SO:0001589	frameshift_variant	63905				CCDS13293.1	20q11.23	2013-09-20			ENSG00000101363	ENSG00000101363			15799	protein-coding gene	gene with protein product							Standard	NM_022077		Approved	dJ1141E15.2	uc002xgv.3	Q9NQG1	OTTHUMG00000032414	ENST00000373605.3:c.23_26delCACC	20.37:g.35929689_35929692delCACC	ENSP00000362707:p.Ser8fs		A8KAA6|E1P5V3	Frame_Shift_Del	DEL	ENST00000373605.3	37	CCDS13293.1																																																																																				0.549	MANBAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079096.2		NM_022077	
PRSS16	10279	hgsc.bcm.edu	37	6	27216900	27216900	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr6:27216900C>T	ENST00000230582.3	+	4	374	c.359C>T	c.(358-360)cCa>cTa	p.P120L	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	120					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCTTGGCCCCAGCCTGGGGC	0.582																																					NSCLC(178;1118 2105 17078 23587 44429)												0													54.0	59.0	57.0					6																	27216900		2203	4300	6503	SO:0001583	missense	10279			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.359C>T	6.37:g.27216900C>T	ENSP00000230582:p.Pro120Leu		O75416	Missense_Mutation	SNP	ENST00000230582.3	37	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838840	0.32513	.	.	ENSG00000112812	ENST00000230582;ENST00000343467;ENST00000348953	T	0.22134	1.97	4.04	4.04	0.47022	.	0.519246	0.19397	N	0.115276	T	0.31949	0.0813	M	0.77313	2.365	0.43522	D	0.995796	D;D;P	0.67145	0.996;0.996;0.934	P;D;P	0.64687	0.903;0.928;0.561	T	0.06162	-1.0842	10	0.52906	T	0.07	-20.1907	9.3286	0.38008	0.214:0.786:0.0:0.0	.	11;120;120	Q7Z5N6;C9JI59;Q9NQE7	.;.;TSSP_HUMAN	L	120	ENSP00000230582:P120L	ENSP00000230582:P120L	P	+	2	0	PRSS16	27324879	0.584000	0.26766	0.990000	0.47175	0.064000	0.16182	1.058000	0.30504	2.249000	0.74217	0.557000	0.71058	CCA		0.582	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			
SERPINI2	5276	hgsc.bcm.edu;ucsc.edu	37	3	167167125	167167125	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr3:167167125T>C	ENST00000476257.1	-	8	1328	c.1030A>G	c.(1030-1032)Agt>Ggt	p.S344G	SERPINI2_ENST00000471111.1_Missense_Mutation_p.S344G|SERPINI2_ENST00000264677.4_Missense_Mutation_p.S344G|SERPINI2_ENST00000461846.1_Missense_Mutation_p.S344G			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	344					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GCAGCTTCACTACCATCTTCA	0.378																																																	0													130.0	111.0	117.0					3																	167167125		2203	4300	6503	SO:0001583	missense	5276			AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.1030A>G	3.37:g.167167125T>C	ENSP00000420621:p.Ser344Gly			Missense_Mutation	SNP	ENST00000476257.1	37	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.771675	0.31320	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.63	0.467	0.16721	Serpin domain (3);	0.518820	0.21720	N	0.070137	T	0.81654	0.4868	M	0.79343	2.45	0.31632	N	0.648878	B;B	0.09022	0.002;0.001	B;B	0.17722	0.019;0.005	T	0.75121	-0.3429	10	0.62326	D	0.03	.	5.2059	0.15291	0.0:0.2321:0.1416:0.6263	.	344;344	B4DDY9;O75830	.;SPI2_HUMAN	G	344	ENSP00000420621:S344G;ENSP00000417692:S344G;ENSP00000264677:S344G;ENSP00000419407:S344G	ENSP00000264677:S344G	S	-	1	0	SERPINI2	168649819	0.922000	0.31269	0.170000	0.22879	0.610000	0.37248	0.737000	0.26144	-0.127000	0.11661	0.460000	0.39030	AGT		0.378	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1		NM_006217	
SPATA8	145946	hgsc.bcm.edu	37	15	97328235	97328235	+	Missense_Mutation	SNP	G	G	T	rs536286365		TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr15:97328235G>T	ENST00000328504.3	+	3	473	c.206G>T	c.(205-207)tGt>tTt	p.C69F	SPATA8_ENST00000558553.1_Silent_p.L28L|SPATA8-AS1_ENST00000558722.1_RNA	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	69										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GAGAACAGCTGTTCTCACGGA	0.453																																																	0													138.0	130.0	132.0					15																	97328235		2197	4298	6495	SO:0001583	missense	145946			AY489187	CCDS10376.1	15q26	2008-02-05			ENSG00000185594	ENSG00000185594			28676	protein-coding gene	gene with protein product		613948					Standard	NM_173499		Approved	MGC44294	uc002bue.3	Q6RVD6	OTTHUMG00000149847	ENST00000328504.3:c.206G>T	15.37:g.97328235G>T	ENSP00000328149:p.Cys69Phe		Q2KJ07	Missense_Mutation	SNP	ENST00000328504.3	37	CCDS10376.1	.	.	.	.	.	.	.	.	.	.	G	5.267	0.234697	0.09969	.	.	ENSG00000185594	ENST00000328504	T	0.33865	1.39	3.02	0.967	0.19674	.	.	.	.	.	T	0.15392	0.0371	N	0.08118	0	0.09310	N	1	P	0.40794	0.729	B	0.35813	0.211	T	0.11842	-1.0571	9	0.87932	D	0	.	3.5793	0.07946	0.1682:0.2588:0.573:0.0	.	69	Q6RVD6	SPAT8_HUMAN	F	69	ENSP00000328149:C69F	ENSP00000328149:C69F	C	+	2	0	SPATA8	95129239	0.001000	0.12720	0.014000	0.15608	0.002000	0.02628	0.264000	0.18497	0.267000	0.21916	-0.481000	0.04817	TGT		0.453	SPATA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313533.1		NM_173499	
STAMBP	10617	hgsc.bcm.edu	37	2	74074605	74074605	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr2:74074605A>T	ENST00000394070.2	+	5	970	c.467A>T	c.(466-468)cAa>cTa	p.Q156L	STAMBP_ENST00000394073.1_Missense_Mutation_p.Q156L|STAMBP_ENST00000409707.1_Missense_Mutation_p.Q156L|STAMBP_ENST00000536064.1_Missense_Mutation_p.Q156L|STAMBP_ENST00000339566.3_Missense_Mutation_p.Q156L	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	156	Glu-rich.				JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						AAGCAGCAGCAATTGGAACAG	0.483																																																	0													79.0	76.0	77.0					2																	74074605		2203	4300	6503	SO:0001583	missense	10617			BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.467A>T	2.37:g.74074605A>T	ENSP00000377633:p.Gln156Leu		B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	ENST00000394070.2	37	CCDS1929.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.411978	0.83340	.	.	ENSG00000124356	ENST00000339566;ENST00000539933;ENST00000409707;ENST00000432295;ENST00000424659;ENST00000394073;ENST00000394070;ENST00000536064	T;T;T;T;T;T	0.52526	1.82;1.82;1.78;1.82;1.82;0.66	4.88	4.88	0.63580	.	0.121273	0.56097	D	0.000022	T	0.59595	0.2205	M	0.71036	2.16	0.80722	D	1	P	0.48294	0.908	P	0.52957	0.714	T	0.63501	-0.6623	10	0.54805	T	0.06	-6.9798	13.913	0.63878	1.0:0.0:0.0:0.0	.	156	O95630	STABP_HUMAN	L	156	ENSP00000344742:Q156L;ENSP00000386548:Q156L;ENSP00000413874:Q156L;ENSP00000377636:Q156L;ENSP00000377633:Q156L;ENSP00000443502:Q156L	ENSP00000344742:Q156L	Q	+	2	0	STAMBP	73928113	1.000000	0.71417	0.300000	0.25030	0.973000	0.67179	8.463000	0.90377	2.189000	0.69895	0.528000	0.53228	CAA		0.483	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2		NM_006463	
TGFBRAP1	9392	hgsc.bcm.edu	37	2	105924721	105924721	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr2:105924721A>G	ENST00000393359.2	-	2	464	c.38T>C	c.(37-39)gTg>gCg	p.V13A	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.V13A			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	13					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTCCCGCTCCACAGCAGAGAC	0.532																																					Esophageal Squamous(183;794 2019 9730 21801 48859)												0													37.0	37.0	37.0					2																	105924721		2203	4300	6503	SO:0001583	missense	9392			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.38T>C	2.37:g.105924721A>G	ENSP00000377027:p.Val13Ala		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.870268	0.51588	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.45276	0.9;0.9	4.82	4.82	0.62117	.	0.285365	0.33670	N	0.004664	T	0.36276	0.0961	L	0.51422	1.61	0.44570	D	0.997533	B	0.21905	0.062	B	0.19148	0.024	T	0.30475	-0.9977	10	0.66056	D	0.02	-25.5826	9.3711	0.38254	0.92:0.0:0.08:0.0	.	13	Q8WUH2	TGFA1_HUMAN	A	13	ENSP00000377027:V13A;ENSP00000258449:V13A	ENSP00000258449:V13A	V	-	2	0	TGFBRAP1	105291153	0.986000	0.35501	0.625000	0.29200	0.978000	0.69477	6.197000	0.72100	2.145000	0.66743	0.533000	0.62120	GTG		0.532	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2		NM_004257	
TRIT1	54802	hgsc.bcm.edu;ucsc.edu	37	1	40323055	40323055	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr1:40323055A>C	ENST00000316891.5	-	2	223	c.209T>G	c.(208-210)gTt>gGt	p.V70G	TRIT1_ENST00000372818.1_Missense_Mutation_p.V70G|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000544981.1_Missense_Mutation_p.V70G|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000537440.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	70					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTGGGCAGAAACCTTGTTGGT	0.428																																																	0													95.0	86.0	89.0					1																	40323055		2203	4300	6503	SO:0001583	missense	54802			AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.209T>G	1.37:g.40323055A>C	ENSP00000321810:p.Val70Gly		A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.037688	0.75617	.	.	ENSG00000043514	ENST00000046894;ENST00000316891;ENST00000372818;ENST00000534869;ENST00000544981	T;T;T	0.46819	0.86;0.86;0.95	5.88	5.88	0.94601	.	0.050865	0.85682	N	0.000000	T	0.69663	0.3136	M	0.90814	3.15	0.80722	D	1	D	0.54964	0.969	P	0.59825	0.864	T	0.76361	-0.2987	10	0.87932	D	0	-18.6171	11.3505	0.49585	0.9299:0.0:0.0701:0.0	.	70	Q9H3H1	MOD5_HUMAN	G	70;70;70;14;70	ENSP00000321810:V70G;ENSP00000361905:V70G;ENSP00000442765:V70G	ENSP00000046894:V70G	V	-	2	0	TRIT1	40095642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.455000	0.80726	2.257000	0.74773	0.459000	0.35465	GTT		0.428	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2		NM_017646	
TNR	7143	hgsc.bcm.edu	37	1	175355248	175355248	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr1:175355248G>T	ENST00000367674.2	-	8	2405	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	TNR_ENST00000263525.2_Missense_Mutation_p.P566H			Q92752	TENR_HUMAN	tenascin R	566	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCGGGAGCCAGGCCGCAGGGC	0.612																																																	0													63.0	60.0	61.0					1																	175355248		2203	4300	6503	SO:0001583	missense	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1697C>A	1.37:g.175355248G>T	ENSP00000356646:p.Pro566His		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820196	0.71028	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.69175	-0.38;-0.38	5.58	5.58	0.84498	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84991	0.5595	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87170	0.2220	10	0.87932	D	0	.	19.1714	0.93580	0.0:0.0:1.0:0.0	.	566	Q92752	TENR_HUMAN	H	566	ENSP00000356646:P566H;ENSP00000263525:P566H	ENSP00000263525:P566H	P	-	2	0	TNR	173621871	1.000000	0.71417	0.953000	0.39169	0.256000	0.26092	8.911000	0.92721	2.613000	0.88420	0.650000	0.86243	CCT		0.612	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4		NM_003285	
UNC5D	137970	hgsc.bcm.edu;ucsc.edu	37	8	35647991	35647991	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr8:35647991G>T	ENST00000404895.2	+	17	3100	c.2772G>T	c.(2770-2772)gaG>gaT	p.E924D	AC012215.1_ENST00000437887.1_5'Flank|UNC5D_ENST00000449677.1_Missense_Mutation_p.E500D|UNC5D_ENST00000287272.2_Missense_Mutation_p.E855D|UNC5D_ENST00000420357.1_Missense_Mutation_p.E857D|UNC5D_ENST00000453357.2_Missense_Mutation_p.E919D|UNC5D_ENST00000416672.1_Missense_Mutation_p.E929D	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	924	Death.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.E919D(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCCTTGAAGAGATTGGGAGGA	0.488																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											139.0	113.0	122.0					8																	35647991		2203	4300	6503	SO:0001583	missense	137970			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2772G>T	8.37:g.35647991G>T	ENSP00000385143:p.Glu924Asp		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688919	0.68271	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	5.72	3.93	0.45458	Death (2);DEATH-like (2);	0.000000	0.85682	D	0.000000	D	0.87569	0.6210	L	0.43152	1.355	0.42849	D	0.994073	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.87578	0.998;0.99;0.994	D	0.85147	0.0984	10	0.38643	T	0.18	-22.6491	9.385	0.38338	0.2158:0.0:0.7842:0.0	.	500;919;924	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	D	924;857;855;929;919;500	ENSP00000385143:E924D;ENSP00000392739:E857D;ENSP00000287272:E855D;ENSP00000412652:E929D;ENSP00000394303:E919D;ENSP00000397211:E500D	ENSP00000287272:E855D	E	+	3	2	UNC5D	35767533	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.762000	0.26503	0.774000	0.33427	0.557000	0.71058	GAG		0.488	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			
