#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_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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
OR52I2	143502	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	4608347	4608347	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:4608347T>C	ENST00000312614.4	+	1	327	c.305T>C	c.(304-306)gTt>gCt	p.V102A		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGGACATTGTTATGGCCTCC	0.483																																																0													284.0	279.0	280.0					11																	4608347		2201	4298	6499	SO:0001583	missense	143502			BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.305T>C	11.37:g.4608347T>C	ENSP00000308764:p.Val102Ala		B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	T	0.891	-0.725550	0.03158	.	.	ENSG00000226288	ENST00000312614	T	0.79454	-1.27	4.1	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.365415	0.19815	N	0.105449	T	0.65333	0.2681	L	0.40543	1.245	0.09310	N	1	B	0.14012	0.009	B	0.20955	0.032	T	0.53774	-0.8391	10	0.38643	T	0.18	-9.048	4.9751	0.14136	0.0:0.0981:0.1888:0.7131	.	102	Q8NH67	O52I2_HUMAN	A	102	ENSP00000308764:V102A	ENSP00000308764:V102A	V	+	2	0	OR52I2	4564923	0.000000	0.05858	0.929000	0.37066	0.115000	0.19883	-0.603000	0.05674	0.612000	0.30071	-0.441000	0.05720	GTT		0.483	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		86	225	86	225
OR52E8	390079	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	5878650	5878650	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:5878650T>C	ENST00000537935.1	-	1	314	c.283A>G	c.(283-285)Acc>Gcc	p.T95A	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTTCTTTGGTATTGAACCAG	0.473																																																0													148.0	166.0	160.0					11																	5878650		2147	4296	6443	SO:0001583	missense	390079			BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.283A>G	11.37:g.5878650T>C	ENSP00000444054:p.Thr95Ala		B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.296101	0.00245	.	.	ENSG00000183269	ENST00000537935	T	0.02916	4.11	4.24	2.25	0.28309	GPCR, rhodopsin-like superfamily (1);	0.602509	0.14795	N	0.297986	T	0.00875	0.0029	N	0.00525	-1.395	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46830	-0.9163	10	0.07482	T	0.82	.	8.1755	0.31278	0.0:0.1459:0.5309:0.3232	.	95	Q6IFG1	O52E8_HUMAN	A	95	ENSP00000444054:T95A	ENSP00000444054:T95A	T	-	1	0	OR52E8	5835226	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-2.259000	0.01178	0.482000	0.27582	-0.418000	0.06021	ACC		0.473	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		66	108	66	108
ZDHHC13	54503	hgsc.bcm.edu;ucsc.edu	37	11	19184936	19184936	+	Missense_Mutation	SNP	C	C	G	rs199838406		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:19184936C>G	ENST00000446113.2	+	11	1316	c.1195C>G	c.(1195-1197)Cca>Gca	p.P399A	ZDHHC13_ENST00000399351.3_Missense_Mutation_p.P269A	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	399					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GGCAACTGATCCAGGCTTCAC	0.348																																																0								C	ALA/PRO,ALA/PRO	4,3592		0,4,1794	65.0	59.0	61.0		805,1195	5.3	1.0	11		61	0,8138		0,0,4069	yes	missense,missense	ZDHHC13	NM_001001483.2,NM_019028.2	27,27	0,4,5863	GG,GC,CC		0.0,0.1112,0.0341	probably-damaging,probably-damaging	269/493,399/623	19184936	4,11730	1798	4069	5867	SO:0001583	missense	54503			AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.1195C>G	11.37:g.19184936C>G	ENSP00000400113:p.Pro399Ala		Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Missense_Mutation	SNP	ENST00000446113.2	37	CCDS44550.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011295	0.75046	0.001112	0.0	ENSG00000177054	ENST00000446113;ENST00000399351	T;T	0.53423	0.62;0.62	5.32	5.32	0.75619	.	0.304213	0.36167	N	0.002744	T	0.71065	0.3296	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74990	-0.3475	10	0.87932	D	0	0.8637	16.8613	0.86019	0.0:1.0:0.0:0.0	.	399	Q8IUH4	ZDH13_HUMAN	A	399;269	ENSP00000400113:P399A;ENSP00000382288:P269A	ENSP00000382288:P269A	P	+	1	0	ZDHHC13	19141512	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.740000	0.62087	2.642000	0.89623	0.655000	0.94253	CCA		0.348	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387821.1	NM_019028		3	14	3	14
ANO1	55107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	69950226	69950226	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:69950226C>T	ENST00000355303.5	+	4	967	c.662C>T	c.(661-663)tCc>tTc	p.S221F	ANO1_ENST00000530676.1_Missense_Mutation_p.S105F|ANO1_ENST00000538023.1_Missense_Mutation_p.S221F|ANO1_ENST00000316296.5_Missense_Mutation_p.S193F|ANO1_ENST00000398543.2_Missense_Mutation_p.S105F	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	221					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	AAGAGACTCTCCTATCCCTTC	0.542																																																0													42.0	44.0	43.0					11																	69950226		1880	4098	5978	SO:0001583	missense	55107			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.662C>T	11.37:g.69950226C>T	ENSP00000347454:p.Ser221Phe		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	CCDS44663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.36|15.36	2.811091|2.811091	0.50421|0.50421	.|.	.|.	ENSG00000131620|ENSG00000131620	ENST00000530480|ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000531604;ENST00000316296;ENST00000530676	.|T;T;T;T;T;T	.|0.68181	.|-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	5.25|5.25	3.34|3.34	0.38264|0.38264	.|.	.|0.070054	.|0.64402	.|N	.|0.000013	T|T	0.65533|0.65533	0.2700|0.2700	L|L	0.61036|0.61036	1.89|1.89	0.54753|0.54753	D|D	0.999985|0.999985	.|P;B	.|0.40731	.|0.728;0.395	.|P;B	.|0.45037	.|0.467;0.34	T|T	0.61173|0.61173	-0.7116|-0.7116	5|9	.|.	.|.	.|.	.|.	9.1886|9.1886	0.37184|0.37184	0.1456:0.7784:0.0:0.0759|0.1456:0.7784:0.0:0.0759	.|.	.|193;221	.|Q5XXA6-3;Q5XXA6	.|.;ANO1_HUMAN	S|F	64|221;221;105;5;188;193;105	.|ENSP00000347454:S221F;ENSP00000444689:S221F;ENSP00000381551:S105F;ENSP00000436392:S188F;ENSP00000319477:S193F;ENSP00000435797:S105F	.|.	P|S	+|+	1|2	0|0	ANO1|ANO1	69627874|69627874	0.998000|0.998000	0.40836|0.40836	0.984000|0.984000	0.44739|0.44739	0.468000|0.468000	0.32798|0.32798	3.273000|3.273000	0.51623|0.51623	0.582000|0.582000	0.29556|0.29556	-0.145000|-0.145000	0.13849|0.13849	CCT|TCC		0.542	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		5	6	5	6
SHANK2	22941	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	70319315	70319315	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:70319315G>C	ENST00000423696.2	-	16	4108	c.4072C>G	c.(4072-4074)Ctc>Gtc	p.L1358V	SHANK2_ENST00000409161.1_Missense_Mutation_p.L1141V|SHANK2_ENST00000449833.2_Missense_Mutation_p.L1142V|SHANK2_ENST00000338508.4_Missense_Mutation_p.L1738V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1358					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.L1142V(1)|p.L1738V(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACATCTGAGAGAGCGGGAGAA	0.602																																																2	Substitution - Missense(2)	lung(2)											57.0	72.0	67.0					11																	70319315		2200	4294	6494	SO:0001583	missense	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.4072C>G	11.37:g.70319315G>C	ENSP00000394536:p.Leu1358Val		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37		.	.	.	.	.	.	.	.	.	.	G	14.36	2.510742	0.44660	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.39787	2.35;2.34;3.06;1.06;2.48;2.47	5.91	4.95	0.65309	.	0.535961	0.17455	N	0.173630	T	0.28267	0.0698	N	0.22421	0.69	0.80722	D	1	P;P;B	0.49090	0.696;0.919;0.188	B;B;B	0.38880	0.232;0.284;0.238	T	0.03202	-1.1061	10	0.30854	T	0.27	.	13.7238	0.62745	0.0:0.0:0.7306:0.2694	.	1358;1737;1142	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	V	1142;1141;1016;1738;1358;1376;1361	ENSP00000399423:L1142V;ENSP00000386491:L1141V;ENSP00000402944:L1016V;ENSP00000345193:L1738V;ENSP00000394536:L1358V;ENSP00000294018:L1361V	ENSP00000294018:L1361V	L	-	1	0	SHANK2	69996963	0.992000	0.36948	0.942000	0.38095	0.914000	0.54420	1.965000	0.40471	2.799000	0.96334	0.650000	0.86243	CTC		0.602	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		39	77	39	77
MMP8	4317	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	102587093	102587093	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:102587093G>T	ENST00000236826.3	-	6	940	c.842C>A	c.(841-843)cCc>cAc	p.P281H		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	281					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	TGTCAAACTGGGGTCACAGGG	0.363																																																0													127.0	133.0	131.0					11																	102587093		2203	4299	6502	SO:0001583	missense	4317			J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.842C>A	11.37:g.102587093G>T	ENSP00000236826:p.Pro281His		Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831002	0.50845	.	.	ENSG00000118113	ENST00000236826;ENST00000544383;ENST00000534942	T	0.14766	2.48	5.27	4.34	0.51931	Hemopexin/matrixin (2);	0.113900	0.39909	N	0.001222	T	0.40498	0.1119	M	0.85777	2.775	0.51012	D	0.999906	P;D;P	0.76494	0.934;0.999;0.476	P;D;P	0.67382	0.79;0.951;0.471	T	0.48468	-0.9033	10	0.87932	D	0	.	14.6756	0.68978	0.0:0.1466:0.8534:0.0	.	281;216;281	A8K9E4;F5GXB5;P22894	.;.;MMP8_HUMAN	H	281;258;216	ENSP00000236826:P281H	ENSP00000236826:P281H	P	-	2	0	MMP8	102092303	1.000000	0.71417	0.723000	0.30687	0.283000	0.27025	8.736000	0.91554	1.163000	0.42636	0.563000	0.77884	CCC		0.363	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		56	89	56	89
ADAMTS20	80070	hgsc.bcm.edu;broad.mit.edu	37	12	43822162	43822162	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:43822162T>A	ENST00000389420.3	-	26	3826	c.3827A>T	c.(3826-3828)cAg>cTg	p.Q1276L	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.Q394L|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.Q1276L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1276					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATAGCTTGGCTGCACAGGGGA	0.468																																																0													88.0	84.0	85.0					12																	43822162		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3827A>T	12.37:g.43822162T>A	ENSP00000374071:p.Gln1276Leu		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	11.28	1.591331	0.28357	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.61627	0.27;0.14;0.14;0.09	5.14	3.98	0.46160	.	0.357072	0.20136	N	0.098485	T	0.39655	0.1086	N	0.24115	0.695	0.38300	D	0.942969	P;P	0.50617	0.61;0.937	B;B	0.40410	0.109;0.328	T	0.23940	-1.0174	10	0.19590	T	0.45	.	10.9897	0.47543	0.0:0.0755:0.0:0.9245	.	1276;394	P59510;E9PBD5	ATS20_HUMAN;.	L	1276;406;394;1276;1276	ENSP00000374071:Q1276L;ENSP00000447427:Q406L;ENSP00000378911:Q394L;ENSP00000448341:Q1276L	ENSP00000374068:Q1276L	Q	-	2	0	ADAMTS20	42108429	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	4.055000	0.57441	1.043000	0.40175	0.477000	0.44152	CAG		0.468	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		4	82	4	82
OR9K2	441639	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	55524375	55524375	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:55524375G>A	ENST00000305377.5	+	1	911	c.823G>A	c.(823-825)Gtg>Atg	p.V275M		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						AGTTGTGAGTGTGCTGTATGG	0.438																																																0													195.0	174.0	181.0					12																	55524375		2203	4300	6503	SO:0001583	missense	441639			BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.823G>A	12.37:g.55524375G>A	ENSP00000307598:p.Val275Met		B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	CCDS31814.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734352	0.30774	.	.	ENSG00000170605	ENST00000305377	T	0.00188	8.59	4.98	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.170673	0.27358	N	0.019725	T	0.00109	0.0003	N	0.16066	0.365	0.20821	N	0.999849	B	0.30605	0.287	B	0.35899	0.213	T	0.44682	-0.9312	10	0.66056	D	0.02	-6.0802	3.3612	0.07188	0.0877:0.1434:0.522:0.2469	.	275	Q8NGE7	OR9K2_HUMAN	M	275	ENSP00000307598:V275M	ENSP00000307598:V275M	V	+	1	0	OR9K2	53810642	0.000000	0.05858	1.000000	0.80357	0.979000	0.70002	-1.744000	0.01832	2.753000	0.94483	0.650000	0.86243	GTG		0.438	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			30	135	30	135
LRRIQ1	84125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	85521757	85521757	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:85521757A>T	ENST00000393217.2	+	18	4216	c.4155A>T	c.(4153-4155)agA>agT	p.R1385S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1385										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGGAAAAAGAGAAAATATTG	0.353																																																0													124.0	125.0	124.0					12																	85521757		1829	4090	5919	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4155A>T	12.37:g.85521757A>T	ENSP00000376910:p.Arg1385Ser		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	A	9.619	1.133324	0.21041	.	.	ENSG00000133640	ENST00000393217	T	0.50813	0.73	5.21	2.42	0.29668	.	.	.	.	.	T	0.25306	0.0615	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.09377	0.004	T	0.15263	-1.0443	9	0.51188	T	0.08	.	6.2237	0.20695	0.536:0.1114:0.0:0.3526	.	1385	Q96JM4	LRIQ1_HUMAN	S	1385	ENSP00000376910:R1385S	ENSP00000376910:R1385S	R	+	3	2	LRRIQ1	84045888	0.000000	0.05858	0.003000	0.11579	0.506000	0.33950	0.295000	0.19065	0.902000	0.36520	0.482000	0.46254	AGA		0.353	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		11	90	11	90
ATP6V0A2	23545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	124228804	124228804	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:124228804G>A	ENST00000330342.3	+	11	1494	c.1246G>A	c.(1246-1248)Gga>Aga	p.G416R		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	416					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TGGAGACTTCGGACATGGCTT	0.373																																																0													252.0	226.0	235.0					12																	124228804		2203	4300	6503	SO:0001583	missense	23545			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.1246G>A	12.37:g.124228804G>A	ENSP00000332247:p.Gly416Arg		A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	G	33	5.230297	0.95207	.	.	ENSG00000185344	ENST00000330342;ENST00000504192	D;D	0.92495	-3.05;-3.05	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.97695	0.9244	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98808	1.0742	10	0.87932	D	0	-25.6823	19.3612	0.94438	0.0:0.0:1.0:0.0	.	416	Q9Y487	VPP2_HUMAN	R	416;286	ENSP00000332247:G416R;ENSP00000443441:G286R	ENSP00000332247:G416R	G	+	1	0	ATP6V0A2	122794757	1.000000	0.71417	0.777000	0.31699	0.882000	0.50991	9.869000	0.99810	2.564000	0.86499	0.561000	0.74099	GGA		0.373	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		28	98	28	98
ERO1L	30001	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	53138414	53138414	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr14:53138414T>C	ENST00000395686.3	-	6	665	c.442A>G	c.(442-444)Aca>Gca	p.T148A		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	148					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					GCCTTCTGTGTTTCCTCACTT	0.284																																																0													44.0	45.0	44.0					14																	53138414		2203	4300	6503	SO:0001583	missense	30001			AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"""ERO1 (S. cerevisiae)-like"""			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.442A>G	14.37:g.53138414T>C	ENSP00000379042:p.Thr148Ala		A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Missense_Mutation	SNP	ENST00000395686.3	37	CCDS9709.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.459246	0.26248	.	.	ENSG00000197930	ENST00000395686;ENST00000554251	D;D	0.93076	-3.16;-3.16	4.74	4.74	0.60224	.	0.047528	0.85682	D	0.000000	D	0.84561	0.5499	N	0.20530	0.585	0.51482	D	0.999922	B	0.09022	0.002	B	0.11329	0.006	T	0.76895	-0.2790	10	0.07990	T	0.79	-13.1218	8.8881	0.35416	0.0:0.086:0.0:0.914	.	148	Q96HE7	ERO1A_HUMAN	A	148;108	ENSP00000379042:T148A;ENSP00000452269:T108A	ENSP00000379042:T148A	T	-	1	0	ERO1L	52208164	1.000000	0.71417	0.993000	0.49108	0.964000	0.63967	4.155000	0.58131	1.914000	0.55421	0.482000	0.46254	ACA		0.284	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	NM_014584		23	11	23	11
DMXL2	23312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	51773679	51773679	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr15:51773679T>C	ENST00000251076.5	-	24	5911	c.5624A>G	c.(5623-5625)gAt>gGt	p.D1875G	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.D1239G|DMXL2_ENST00000543779.2_Missense_Mutation_p.D1875G	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1875						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTTAATTTTATCAACAAAGTT	0.378																																																0													60.0	63.0	62.0					15																	51773679		2196	4292	6488	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.5624A>G	15.37:g.51773679T>C	ENSP00000251076:p.Asp1875Gly		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	T	7.566	0.665708	0.14710	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.26660	1.86;1.86;1.72	5.44	4.11	0.48088	.	0.091271	0.64402	D	0.000001	T	0.17831	0.0428	N	0.25647	0.755	0.58432	D	0.999993	B;B;B	0.15930	0.015;0.011;0.004	B;B;B	0.18561	0.015;0.022;0.013	T	0.05115	-1.0905	10	0.27785	T	0.31	.	11.8567	0.52441	0.0:0.0801:0.0:0.9199	.	1875;1239;1875	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	G	1875;1875;1239	ENSP00000251076:D1875G;ENSP00000441858:D1875G;ENSP00000400855:D1239G	ENSP00000251076:D1875G	D	-	2	0	DMXL2	49560971	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.797000	0.55514	2.065000	0.61736	0.528000	0.53228	GAT		0.378	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		6	43	6	43
ZNF200	7752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	3282875	3282875	+	Silent	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr16:3282875C>T	ENST00000431561.3	-	3	909	c.297G>A	c.(295-297)aaG>aaA	p.K99K	ZNF200_ENST00000396871.4_Silent_p.K99K|ZNF200_ENST00000396870.4_Silent_p.K99K|ZNF200_ENST00000575948.1_Silent_p.K99K|ZNF200_ENST00000414144.2_Silent_p.K99K|ZNF200_ENST00000396868.3_Silent_p.K99K	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	99					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						TCTCTTGTTCCTTTTGGACTC	0.478																																																0													113.0	99.0	104.0					16																	3282875		2197	4300	6497	SO:0001819	synonymous_variant	7752			AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.297G>A	16.37:g.3282875C>T			D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Silent	SNP	ENST00000431561.3	37	CCDS10497.1																																																																																				0.478	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1			19	42	19	42
USP31	57478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	23085199	23085199	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr16:23085199A>G	ENST00000219689.7	-	14	2178	c.2179T>C	c.(2179-2181)Tac>Cac	p.Y727H	USP31_ENST00000567975.1_5'Flank	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	357	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TTCTTACAGTACGCTGCCAAA	0.542																																																0													44.0	41.0	42.0					16																	23085199		2197	4300	6497	SO:0001583	missense	57478			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2179T>C	16.37:g.23085199A>G	ENSP00000219689:p.Tyr727His		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	A	9.732	1.162614	0.21538	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.03580	3.88	5.91	3.7	0.42460	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.313578	0.30620	N	0.009221	T	0.05823	0.0152	M	0.68728	2.09	0.54753	D	0.99998	B;B	0.20671	0.047;0.003	B;B	0.18263	0.021;0.014	T	0.17048	-1.0382	10	0.46703	T	0.11	-6.9445	9.4626	0.38794	0.8586:0.0:0.1414:0.0	.	30;727	Q70CQ4-2;Q70CQ4	.;UBP31_HUMAN	H	727;30	ENSP00000219689:Y727H	ENSP00000219689:Y727H	Y	-	1	0	USP31	22992700	1.000000	0.71417	0.234000	0.24042	0.541000	0.35023	4.451000	0.60047	0.507000	0.28148	0.533000	0.62120	TAC		0.542	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		6	29	6	29
SBK1	388228	hgsc.bcm.edu;broad.mit.edu	37	16	28331420	28331420	+	Silent	SNP	G	G	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr16:28331420G>C	ENST00000341901.4	+	4	1242	c.453G>C	c.(451-453)gtG>gtC	p.V151V		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(3)|ovary(1)	5						AGGACACGGTGAAGCGCTGTG	0.716																																																0													7.0	8.0	8.0					16																	28331420		2170	4227	6397	SO:0001819	synonymous_variant	388228				CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"""SH3-binding domain kinase 1"""				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.453G>C	16.37:g.28331420G>C				Silent	SNP	ENST00000341901.4	37	CCDS32416.1																																																																																				0.716	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	XM_370948		3	9	3	9
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	16	5	16
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7578458	7578458	+	Missense_Mutation	SNP	G	G	T	rs587780068		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:7578458G>T	ENST00000269305.4	-	5	661	c.472C>A	c.(472-474)Cgc>Agc	p.R158S	TP53_ENST00000420246.2_Missense_Mutation_p.R158S|TP53_ENST00000455263.2_Missense_Mutation_p.R158S|TP53_ENST00000445888.2_Missense_Mutation_p.R158S|TP53_ENST00000359597.4_Missense_Mutation_p.R158S|TP53_ENST00000413465.2_Missense_Mutation_p.R158S|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCATGGCGCGGACGCGGGTG	0.622		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	98	Substitution - Missense(38)|Deletion - Frameshift(26)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Complex - frameshift(2)|Insertion - Frameshift(1)	lung(25)|central_nervous_system(21)|stomach(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|upper_aerodigestive_tract(5)|breast(4)|oesophagus(4)|bone(4)|urinary_tract(3)|ovary(2)|pancreas(2)|liver(2)|soft_tissue(1)	GRCh37	CM004341	TP53	M							51.0	52.0	51.0					17																	7578458		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.472C>A	17.37:g.7578458G>T	ENSP00000269305:p.Arg158Ser		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843183	0.51057	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99865	-7.29;-7.29;-7.29;-7.29;-7.29;-7.29;-7.29;-7.29;-7.29	5.59	3.57	0.40892	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	N	0.000010	D	0.99851	0.9931	M	0.92026	3.265	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.993;0.994;0.998;0.996;0.991;1.0	D	0.97453	1.0029	10	0.87932	D	0	-10.4795	9.778	0.40632	0.0776:0.1408:0.7816:0.0	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158S;ENSP00000352610:R158S;ENSP00000269305:R158S;ENSP00000398846:R158S;ENSP00000391127:R158S;ENSP00000391478:R158S;ENSP00000425104:R26S;ENSP00000423862:R65S;ENSP00000424104:R158S	ENSP00000269305:R158S	R	-	1	0	TP53	7519183	1.000000	0.71417	0.034000	0.17996	0.178000	0.23041	2.597000	0.46214	0.818000	0.34468	0.655000	0.94253	CGC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		42	90	42	90
USP43	124739	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	9546373	9546373	+	5'Flank	SNP	A	A	G	rs566832265		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:9546373A>G	ENST00000285199.7	+	0	0				WDR16_ENST00000396219.3_Missense_Mutation_p.Y506C|WDR16_ENST00000299764.5_Missense_Mutation_p.Y584C|USP43_ENST00000570475.1_5'Flank|RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000352665.5_Missense_Mutation_p.Y574C	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GTTTGGGATTATAATGAGGGT	0.433																																																0													93.0	84.0	87.0					17																	9546373		2203	4300	6503	SO:0001631	upstream_gene_variant	146845			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4			17.37:g.9546373A>G	Exception_encountered		A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.392571	0.83011	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.40476	1.03;2.75;2.22	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70081	0.3183	M	0.88181	2.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.76244	-0.3030	10	0.66056	D	0.02	-21.5497	15.0159	0.71584	1.0:0.0:0.0:0.0	.	584;506;574	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	C	574;506;584	ENSP00000339449:Y574C;ENSP00000379521:Y506C;ENSP00000299764:Y584C	ENSP00000299764:Y584C	Y	+	2	0	WDR16	9487098	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.818000	0.91991	2.189000	0.69895	0.459000	0.35465	TAT		0.433	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		10	42	10	42
PTPRM	5797	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	8113636	8113636	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr18:8113636T>A	ENST00000332175.8	+	12	3046	c.2009T>A	c.(2008-2010)cTc>cAc	p.L670H	PTPRM_ENST00000580170.1_Missense_Mutation_p.L670H|PTPRM_ENST00000400053.4_Missense_Mutation_p.L608H|PTPRM_ENST00000444013.1_Missense_Mutation_p.L457H|PTPRM_ENST00000400060.4_Missense_Mutation_p.L670H	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	670	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				GCAGACAGCCTCCAAGCTGCG	0.418																																																0													109.0	106.0	107.0					18																	8113636		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.2009T>A	18.37:g.8113636T>A	ENSP00000331418:p.Leu670His		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.863798	0.91511	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.54866	0.86;0.82;0.68;0.55	5.95	5.95	0.96441	Fibronectin, type III (1);	0.219733	0.41001	D	0.000980	T	0.69602	0.3129	M	0.64170	1.965	0.51767	D	0.999935	D;P;P	0.69078	0.997;0.938;0.938	D;P;P	0.67900	0.954;0.554;0.554	T	0.71915	-0.4448	10	0.66056	D	0.02	.	16.4069	0.83677	0.0:0.0:0.0:1.0	.	457;670;670	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	H	670;670;608;457	ENSP00000331418:L670H;ENSP00000382933:L670H;ENSP00000382927:L608H;ENSP00000387608:L457H	ENSP00000331418:L670H	L	+	2	0	PTPRM	8103636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.272000	0.75746	0.460000	0.39030	CTC		0.418	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			41	151	41	151
DSG1	1828	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	28935112	28935112	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr18:28935112G>T	ENST00000257192.4	+	15	3165	c.2953G>T	c.(2953-2955)Ggt>Tgt	p.G985C	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G344C	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	985	Gly/Ser-rich.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CACCAGCATGGGTGCTGGGAG	0.602																																																0													109.0	103.0	105.0					18																	28935112		2203	4300	6503	SO:0001583	missense	1828			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2953G>T	18.37:g.28935112G>T	ENSP00000257192:p.Gly985Cys		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	0.093	-1.164194	0.01673	.	.	ENSG00000134760	ENST00000257192	T	0.59224	0.28	4.67	0.537	0.17144	.	0.305386	0.28354	N	0.015649	T	0.40119	0.1104	N	0.08118	0	0.09310	N	1	D	0.63046	0.992	P	0.49561	0.615	T	0.39961	-0.9588	10	0.66056	D	0.02	.	8.7473	0.34594	0.3941:0.0:0.6059:0.0	.	985	Q02413	DSG1_HUMAN	C	985	ENSP00000257192:G985C	ENSP00000257192:G985C	G	+	1	0	DSG1	27189110	0.004000	0.15560	0.000000	0.03702	0.066000	0.16364	0.717000	0.25851	0.062000	0.16340	0.655000	0.94253	GGT		0.602	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		34	86	34	86
B3GNT3	10331	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	17922692	17922692	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:17922692C>A	ENST00000318683.6	+	3	1027	c.880C>A	c.(880-882)Ccc>Acc	p.P294T	B3GNT3_ENST00000595387.1_Missense_Mutation_p.P294T	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	294					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GGACATCTTCCCCATTGATGA	0.622																																																0													130.0	112.0	118.0					19																	17922692		2203	4300	6503	SO:0001583	missense	10331			AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.880C>A	19.37:g.17922692C>A	ENSP00000321874:p.Pro294Thr		B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200738	0.58126	.	.	ENSG00000179913	ENST00000318683	T	0.41400	1.0	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.72771	0.3502	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80369	-0.1411	10	0.87932	D	0	.	16.2661	0.82579	0.0:1.0:0.0:0.0	.	294	Q9Y2A9	B3GN3_HUMAN	T	294	ENSP00000321874:P294T	ENSP00000321874:P294T	P	+	1	0	B3GNT3	17783692	1.000000	0.71417	0.997000	0.53966	0.015000	0.08874	7.558000	0.82253	2.452000	0.82932	0.561000	0.74099	CCC		0.622	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		19	172	19	172
ATP4A	495	hgsc.bcm.edu;broad.mit.edu	37	19	36046429	36046429	+	Silent	SNP	G	G	C	rs150964145	byFrequency	TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:36046429G>C	ENST00000262623.3	-	14	2098	c.2070C>G	c.(2068-2070)gtC>gtG	p.V690V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	690					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GCAGGGCCTCGACCAGTTCCG	0.657																																																0													51.0	52.0	51.0					19																	36046429		2203	4300	6503	SO:0001819	synonymous_variant	495				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2070C>G	19.37:g.36046429G>C			O00738	Silent	SNP	ENST00000262623.3	37	CCDS12467.1																																																																																				0.657	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		4	70	4	70
PSG11	5680	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	43519344	43519344	+	Silent	SNP	A	A	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:43519344A>G	ENST00000401740.1	-	4	991	c.888T>C	c.(886-888)aaT>aaC	p.N296N	PSG11_ENST00000403486.1_Silent_p.N174N|PSG11_ENST00000595312.1_5'Flank|PSG11_ENST00000320078.7_Silent_p.N296N|PSG11_ENST00000306322.7_Silent_p.N174N			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	305	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CATAGAGCCCATTATGCTTTG	0.463																																																0													156.0	153.0	154.0					19																	43519344		2199	4297	6496	SO:0001819	synonymous_variant	5680			U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.888T>C	19.37:g.43519344A>G			B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000401740.1	37	CCDS12614.2																																																																																				0.463	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		41	118	41	118
LILRA4	23547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	54849804	54849804	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:54849804T>A	ENST00000291759.4	-	3	274	c.218A>T	c.(217-219)aAa>aTa	p.K73I	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	73	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CTCCAGTGTTTTTAATATGTG	0.522																																																0													220.0	168.0	186.0					19																	54849804		2203	4300	6503	SO:0001583	missense	23547			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.218A>T	19.37:g.54849804T>A	ENSP00000291759:p.Lys73Ile		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	1.591	-0.528996	0.04112	.	.	ENSG00000239961	ENST00000291759	T	0.08807	3.05	2.5	-5.01	0.02991	Immunoglobulin-like fold (1);	7.501110	0.00166	N	0.000002	T	0.06142	0.0159	L	0.31207	0.915	0.09310	N	1	B	0.19445	0.036	B	0.21360	0.034	T	0.25398	-1.0133	10	0.31617	T	0.26	.	2.7589	0.05300	0.1028:0.2382:0.1497:0.5093	.	73	P59901	LIRA4_HUMAN	I	73	ENSP00000291759:K73I	ENSP00000291759:K73I	K	-	2	0	LILRA4	59541616	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.028000	0.00158	-3.236000	0.00208	-1.267000	0.01435	AAA		0.522	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		52	131	52	131
EPHA10	284656	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	38227727	38227727	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:38227727T>C	ENST00000373048.4	-	3	199	c.200A>G	c.(199-201)cAc>cGc	p.H67R	EPHA10_ENST00000427468.2_Missense_Mutation_p.H67R|EPHA10_ENST00000319637.6_Missense_Mutation_p.H67R	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	67	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGACGGTCGTGTTCATCCAC	0.627																																																0													68.0	55.0	60.0					1																	38227727		2203	4300	6503	SO:0001583	missense	284656			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.200A>G	1.37:g.38227727T>C	ENSP00000362139:p.His67Arg		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.723535	0.30593	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.08807	3.05;3.05;3.05	4.47	3.34	0.38264	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.40302	N	0.001121	T	0.06690	0.0171	N	0.25890	0.77	0.46874	D	0.999237	B;B	0.31383	0.004;0.321	B;B	0.35550	0.006;0.205	T	0.35101	-0.9802	10	0.49607	T	0.09	.	6.7712	0.23594	0.0:0.0839:0.1519:0.7642	.	67;67	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	R	67	ENSP00000397746:H67R;ENSP00000362139:H67R;ENSP00000316395:H67R	ENSP00000316395:H67R	H	-	2	0	EPHA10	38000314	0.924000	0.31332	0.990000	0.47175	0.979000	0.70002	4.011000	0.57124	0.841000	0.35020	0.448000	0.29417	CAC		0.627	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		37	107	37	107
SRSF11	9295	hgsc.bcm.edu;broad.mit.edu	37	1	70712575	70712575	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:70712575C>G	ENST00000370950.3	+	10	1089	c.1007C>G	c.(1006-1008)tCt>tGt	p.S336C	SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000370949.1_Missense_Mutation_p.S276C|SRSF11_ENST00000370951.1_Missense_Mutation_p.S336C|SRSF11_ENST00000405432.1_Missense_Mutation_p.S336C			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	336	10 X 8 AA approximate repeats of R-R-S-R- S-R-S-R.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						GCCAGACGTTCTAGAAGTGCA	0.348																																																0													142.0	134.0	137.0					1																	70712575		2203	4300	6503	SO:0001583	missense	9295			M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.1007C>G	1.37:g.70712575C>G	ENSP00000359988:p.Ser336Cys		Q5T758|Q8IWE6	Missense_Mutation	SNP	ENST00000370950.3	37	CCDS647.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528046	0.64860	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000395136;ENST00000370949	D;D;D;T;T	0.84370	-1.84;-1.84;-1.84;-0.36;-0.57	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.91851	0.7421	M	0.77313	2.365	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.79784	0.993;0.99;0.99;0.99	D	0.92027	0.5630	10	0.72032	D	0.01	.	19.391	0.94583	0.0:1.0:0.0:0.0	.	276;336;336;336	Q5T757;Q6PJB9;Q8IWE6;Q05519	.;.;.;SRS11_HUMAN	C	336;336;336;336;276	ENSP00000359989:S336C;ENSP00000359988:S336C;ENSP00000384357:S336C;ENSP00000378568:S336C;ENSP00000359987:S276C	ENSP00000359987:S276C	S	+	2	0	SRSF11	70485163	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.382000	0.79729	2.687000	0.91594	0.557000	0.71058	TCT		0.348	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		9	115	9	115
TDRD10	126668	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	154516509	154516509	+	Missense_Mutation	SNP	G	G	A	rs143192137	byFrequency	TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:154516509G>A	ENST00000368480.3	+	9	659	c.574G>A	c.(574-576)Gtc>Atc	p.V192I	TDRD10_ENST00000368482.4_Missense_Mutation_p.V192I|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	192							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATCCATAGCGTCCGTGGGGA	0.612																																																0								A	ILE/VAL,ILE/VAL	0,4406		0,0,2203	144.0	122.0	130.0		574,574	-8.7	0.0	1	dbSNP_134	130	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	TDRD10	NM_001098475.1,NM_182499.3	29,29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign,benign	192/367,192/352	154516509	4,13002	2203	4300	6503	SO:0001583	missense	126668			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.574G>A	1.37:g.154516509G>A	ENSP00000357465:p.Val192Ile		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	g	0.005	-2.214761	0.00289	0.0	4.65E-4	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.22945	1.96;1.93	4.35	-8.69	0.00855	.	3.828960	0.01306	N	0.010464	T	0.01558	0.0050	N	0.02916	-0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.06570	-1.0819	10	0.10902	T	0.67	-0.5355	4.888	0.13713	0.2378:0.0905:0.5031:0.1686	.	192;192	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	I	192	ENSP00000357467:V192I;ENSP00000357465:V192I	ENSP00000357465:V192I	V	+	1	0	TDRD10	152783133	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.792000	0.00766	-4.537000	0.00043	-1.764000	0.00666	GTC		0.612	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		54	148	54	148
COLGALT2	23127	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	183938503	183938503	+	Silent	SNP	C	C	T	rs372560078		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:183938503C>T	ENST00000361927.4	-	5	1103	c.732G>A	c.(730-732)agG>agA	p.R244R	COLGALT2_ENST00000546159.1_Silent_p.R244R	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	244					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										AGGCCTCCTTCCTGAGGTCAA	0.537																																																0								C		1,4405	2.1+/-5.4	0,1,2202	137.0	125.0	129.0		732	1.4	1.0	1		129	0,8600		0,0,4300	no	coding-synonymous	GLT25D2	NM_015101.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		244/627	183938503	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23127			AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.732G>A	1.37:g.183938503C>T			O60327|Q9BZR0	Silent	SNP	ENST00000361927.4	37	CCDS1360.1																																																																																				0.537	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		50	155	50	155
KIF26B	55083	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	245862231	245862231	+	Missense_Mutation	SNP	C	C	T	rs367632094		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:245862231C>T	ENST00000407071.2	+	14	6510	c.6070C>T	c.(6070-6072)Cgc>Tgc	p.R2024C	KIF26B_ENST00000366518.4_Missense_Mutation_p.R1643C	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2024					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCTGGAACACCGCCAGCAGAG	0.567																																																0								C	CYS/ARG	0,4170		0,0,2085	74.0	79.0	77.0		6070	5.8	1.0	1		77	1,8421		0,1,4210	no	missense	KIF26B	NM_018012.3	180	0,1,6295	TT,TC,CC		0.0119,0.0,0.0079	probably-damaging	2024/2109	245862231	1,12591	2085	4211	6296	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.6070C>T	1.37:g.245862231C>T	ENSP00000385545:p.Arg2024Cys		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355682	0.61293	0.0	1.19E-4	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.87256	-2.23;-2.22	5.82	5.82	0.92795	.	.	.	.	.	D	0.93462	0.7914	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93435	0.6789	9	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	2024	Q2KJY2	KI26B_HUMAN	C	2024;1643;1640	ENSP00000385545:R2024C;ENSP00000355475:R1643C	ENSP00000355475:R1643C	R	+	1	0	KIF26B	243928854	0.998000	0.40836	0.990000	0.47175	0.600000	0.36913	3.788000	0.55446	2.752000	0.94435	0.655000	0.94253	CGC		0.567	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		21	57	21	57
OR11L1	391189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	248004441	248004441	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:248004441C>A	ENST00000355784.2	-	1	813	c.758G>T	c.(757-759)gGg>gTg	p.G253V		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	253						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GATCATGGTCCCGTAGTAGAG	0.498																																																0													112.0	108.0	109.0					1																	248004441		2203	4300	6503	SO:0001583	missense	391189			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.758G>T	1.37:g.248004441C>A	ENSP00000348033:p.Gly253Val			Missense_Mutation	SNP	ENST00000355784.2	37	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437236	0.25900	.	.	ENSG00000197591	ENST00000355784	T	0.35605	1.3	4.42	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34700	U	0.003753	T	0.52468	0.1736	M	0.67700	2.07	0.09310	N	0.999994	D	0.58620	0.983	D	0.68943	0.961	T	0.40117	-0.9580	10	0.72032	D	0.01	.	9.2966	0.37819	0.0:0.7726:0.146:0.0814	.	253	Q8NGX0	O11L1_HUMAN	V	253	ENSP00000348033:G253V	ENSP00000348033:G253V	G	-	2	0	OR11L1	246071064	0.000000	0.05858	0.111000	0.21465	0.436000	0.31835	0.110000	0.15437	0.584000	0.29591	0.543000	0.68304	GGG		0.498	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		34	98	34	98
PLCB1	23236	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	8737747	8737747	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr20:8737747G>T	ENST00000338037.6	+	24	2605	c.2578G>T	c.(2578-2580)Gca>Tca	p.A860S	PLCB1_ENST00000378637.2_Missense_Mutation_p.A860S|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Missense_Mutation_p.A860S	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	860					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AACGACTCCAGCAGAAAATGG	0.478																																																0													74.0	77.0	76.0					20																	8737747		2203	4300	6503	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2578G>T	20.37:g.8737747G>T	ENSP00000338185:p.Ala860Ser		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797831	0.31777	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.18960	2.2;2.18;2.2	5.53	4.57	0.56435	.	0.112182	0.64402	N	0.000012	T	0.18299	0.0439	L	0.44542	1.39	0.51482	D	0.999922	B;P	0.46512	0.105;0.879	B;B	0.39590	0.023;0.304	T	0.03829	-1.1000	10	0.14252	T	0.57	.	15.99	0.80197	0.0:0.0:0.864:0.136	.	860;860	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	S	860;860;860;780;780	ENSP00000367908:A860S;ENSP00000338185:A860S;ENSP00000367904:A860S	ENSP00000338185:A860S	A	+	1	0	PLCB1	8685747	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	6.624000	0.74243	1.434000	0.47414	0.650000	0.86243	GCA		0.478	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			26	103	26	103
ATP9A	10079	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	50224091	50224091	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr20:50224091T>C	ENST00000338821.5	-	26	3042	c.2778A>G	c.(2776-2778)atA>atG	p.I926M	ATP9A_ENST00000311637.5_Missense_Mutation_p.I790M|ATP9A_ENST00000402822.1_Missense_Mutation_p.I805M	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	926					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAAAACCCATATTAAGAATG	0.498																																																0													89.0	68.0	75.0					20																	50224091		2203	4300	6503	SO:0001583	missense	10079			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2778A>G	20.37:g.50224091T>C	ENSP00000342481:p.Ile926Met		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.005999	0.35415	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.71579	-0.58;-0.58;-0.58	5.2	1.1	0.20463	.	0.000000	0.85682	D	0.000000	T	0.71525	0.3350	L	0.37750	1.13	0.58432	D	0.999999	D;P	0.60575	0.988;0.568	D;B	0.69654	0.965;0.175	T	0.66268	-0.5966	10	0.45353	T	0.12	-20.5031	7.6616	0.28407	0.2222:0.0:0.4225:0.3553	.	805;926	O75110-2;O75110	.;ATP9A_HUMAN	M	790;926;805	ENSP00000309086:I790M;ENSP00000342481:I926M;ENSP00000385875:I805M	ENSP00000309086:I790M	I	-	3	3	ATP9A	49657498	0.911000	0.30947	0.995000	0.50966	0.973000	0.67179	-0.057000	0.11768	-0.111000	0.12001	0.528000	0.53228	ATA		0.498	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		6	61	6	61
GAB4	128954	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	17473039	17473039	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr22:17473039G>A	ENST00000400588.1	-	2	309	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	68	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGGCCCCTCCGCAGGATAAAC	0.493																																																0													125.0	133.0	130.0					22																	17473039		2187	4295	6482	SO:0001583	missense	128954			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.202C>T	22.37:g.17473039G>A	ENSP00000383431:p.Arg68Trp			Missense_Mutation	SNP	ENST00000400588.1	37	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481884	0.26598	.	.	ENSG00000215568	ENST00000400588	T	0.77358	-1.09	1.81	0.717	0.18196	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	U	0.000000	D	0.87075	0.6087	M	0.89601	3.045	0.42127	D	0.99145	D	0.89917	1.0	D	0.79784	0.993	D	0.85362	0.1108	10	0.87932	D	0	.	7.2624	0.26212	0.0:0.0:0.7351:0.2649	.	68	Q2WGN9	GAB4_HUMAN	W	68	ENSP00000383431:R68W	ENSP00000383431:R68W	R	-	1	2	GAB4	15853039	1.000000	0.71417	0.850000	0.33497	0.009000	0.06853	8.691000	0.91279	0.286000	0.22352	-0.282000	0.10007	CGG		0.493	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		68	120	68	120
C2orf40	84417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	106690448	106690448	+	Silent	SNP	C	C	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:106690448C>G	ENST00000238044.3	+	3	343	c.234C>G	c.(232-234)ccC>ccG	p.P78P	C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000409944.1_Silent_p.P42P	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	78					cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						GGACTCGGCCCGAGGTGCAGC	0.577																																																0													77.0	84.0	82.0					2																	106690448		2203	4300	6503	SO:0001819	synonymous_variant	0			BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"""esophageal cancer related gene 4 protein"""	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.234C>G	2.37:g.106690448C>G			D3DVK2	Silent	SNP	ENST00000238044.3	37	CCDS2072.1																																																																																				0.577	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	NM_032411		36	103	36	103
SCN7A	6332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	167288988	167288988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:167288988C>T	ENST00000409855.1	-	15	2558	c.2432G>A	c.(2431-2433)aGc>aAc	p.S811N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	811					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TGTGCCACTGCTTTTTTCCTT	0.388																																																0													243.0	229.0	233.0					2																	167288988		1835	4093	5928	SO:0001583	missense	6332			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2432G>A	2.37:g.167288988C>T	ENSP00000386796:p.Ser811Asn			Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127262	0.37533	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.83591	-1.74;-1.74	5.05	2.12	0.27331	Sodium ion transport-associated (1);	0.727117	0.13324	N	0.396436	D	0.86577	0.5966	M	0.79258	2.445	0.09310	N	1	D	0.69078	0.997	P	0.62885	0.908	T	0.74222	-0.3735	10	0.42905	T	0.14	.	2.0648	0.03600	0.1623:0.5087:0.1571:0.1719	.	811	Q01118	SCN7A_HUMAN	N	811	ENSP00000386796:S811N;ENSP00000413699:S811N	ENSP00000259060:S811N	S	-	2	0	SCN7A	166997234	0.006000	0.16342	0.325000	0.25375	0.413000	0.31143	0.427000	0.21379	0.722000	0.32252	-0.258000	0.10820	AGC		0.388	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			52	159	52	159
LRP2	4036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	170060647	170060647	+	Missense_Mutation	SNP	C	C	T	rs534858438		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:170060647C>T	ENST00000263816.3	-	42	8135	c.7850G>A	c.(7849-7851)cGa>cAa	p.R2617Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2617					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R2617L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTTGTTAGCTCGGTAAATTCT	0.443																																																1	Substitution - Missense(1)	breast(1)											189.0	196.0	194.0					2																	170060647		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7850G>A	2.37:g.170060647C>T	ENSP00000263816:p.Arg2617Gln		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	32	5.192460	0.94960	.	.	ENSG00000081479	ENST00000263816	D	0.92199	-2.99	5.78	4.91	0.64330	Six-bladed beta-propeller, TolB-like (1);	0.058056	0.64402	N	0.000003	D	0.96592	0.8888	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.97180	0.9850	10	0.66056	D	0.02	.	15.1135	0.72380	0.0:0.9321:0.0:0.0679	.	2617	P98164	LRP2_HUMAN	Q	2617	ENSP00000263816:R2617Q	ENSP00000263816:R2617Q	R	-	2	0	LRP2	169768893	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.097000	0.71452	1.454000	0.47793	-0.126000	0.14955	CGA		0.443	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		119	211	119	211
LRP2	4036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	170115593	170115593	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:170115593G>A	ENST00000263816.3	-	17	2740	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C	LRP2_ENST00000443831.1_Missense_Mutation_p.R682C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	819					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R819C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACTACTGTGCGTCTCGTTTTA	0.398																																																1	Substitution - Missense(1)	large_intestine(1)											155.0	151.0	153.0					2																	170115593		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2455C>T	2.37:g.170115593G>A	ENSP00000263816:p.Arg819Cys		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392758	0.42410	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.96856	-3.29;-4.15	5.77	3.88	0.44766	Six-bladed beta-propeller, TolB-like (1);	0.049037	0.85682	N	0.000000	D	0.97657	0.9232	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.97637	1.0146	10	0.72032	D	0.01	.	9.1112	0.36730	0.0763:0.0:0.6796:0.2441	.	682;819	E9PC35;P98164	.;LRP2_HUMAN	C	819;682	ENSP00000263816:R819C;ENSP00000409813:R682C	ENSP00000263816:R819C	R	-	1	0	LRP2	169823839	1.000000	0.71417	0.772000	0.31596	0.038000	0.13279	1.618000	0.36954	1.447000	0.47661	0.591000	0.81541	CGC		0.398	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		35	157	35	157
MARS2	92935	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	198570143	198570143	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:198570143C>T	ENST00000282276.6	+	1	57	c.14C>T	c.(13-15)tCc>tTc	p.S5F	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	5					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CTGCGAACGTCCGTCCTCCGC	0.682																																																0													36.0	31.0	33.0					2																	198570143		2200	4290	6490	SO:0001583	missense	92935			BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.14C>T	2.37:g.198570143C>T	ENSP00000282276:p.Ser5Phe		A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291607	0.40494	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.46819	0.86	4.85	-2.38	0.06622	.	1.782350	0.03049	N	0.154394	T	0.29288	0.0729	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34030	-0.9845	10	0.62326	D	0.03	0.2619	9.1378	0.36886	0.0:0.2515:0.5834:0.1652	.	5	Q96GW9	SYMM_HUMAN	F	5	ENSP00000282276:S5F	ENSP00000282276:S5F	S	+	2	0	MARS2	198278388	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.136000	0.10405	-0.592000	0.05851	0.655000	0.94253	TCC		0.682	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		8	59	8	59
DCLK3	85443	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	36779214	36779214	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr3:36779214G>C	ENST00000416516.2	-	2	1427	c.937C>G	c.(937-939)Ctc>Gtc	p.L313V		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	313						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCATCTCTGAGAGTCATCCTT	0.582																																																0													121.0	127.0	125.0					3																	36779214		2011	4198	6209	SO:0001583	missense	85443			AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.937C>G	3.37:g.36779214G>C	ENSP00000394484:p.Leu313Val			Missense_Mutation	SNP	ENST00000416516.2	37	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.582492	0.00879	.	.	ENSG00000163673	ENST00000416516	T	0.66280	-0.2	4.91	-0.344	0.12628	.	.	.	.	.	T	0.33440	0.0863	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19418	-1.0306	9	0.12430	T	0.62	.	5.6519	0.17620	0.2258:0.2606:0.5136:0.0	.	313	Q9C098	DCLK3_HUMAN	V	313	ENSP00000394484:L313V	ENSP00000394484:L313V	L	-	1	0	DCLK3	36754218	0.003000	0.15002	0.000000	0.03702	0.191000	0.23601	1.273000	0.33121	-0.304000	0.08843	0.655000	0.94253	CTC		0.582	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		71	91	71	91
GNL3	26354	hgsc.bcm.edu;broad.mit.edu	37	3	52727062	52727062	+	Splice_Site	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr3:52727062G>A	ENST00000418458.1	+	10	1217	c.1044G>A	c.(1042-1044)caG>caA	p.Q348Q	SNORD19_ENST00000410413.1_RNA|SNORD69_ENST00000391150.1_RNA|GLT8D1_ENST00000463827.1_5'Flank|GNL3_ENST00000394799.2_Splice_Site_p.Q336Q|SNORD19B_ENST00000459623.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	348	Intermediate. {ECO:0000250}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		ATGCTCGACAGGTAAAAGGAC	0.463																																																0													62.0	61.0	61.0					3																	52727062		2203	4300	6503	SO:0001630	splice_region_variant	26354			AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.1044+1G>A	3.37:g.52727062G>A			B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Splice_Site	SNP	ENST00000418458.1	37	CCDS2861.1																																																																																				0.463	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352032.1	NM_014366	Silent	3	40	3	40
SLC7A14	57709	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	170219060	170219060	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr3:170219060C>A	ENST00000231706.5	-	3	694	c.379G>T	c.(379-381)Gtt>Ttt	p.V127F	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	127					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AATTCCCCAACAGTGACATAG	0.527																																																0													74.0	74.0	74.0					3																	170219060		2203	4300	6503	SO:0001583	missense	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.379G>T	3.37:g.170219060C>A	ENSP00000231706:p.Val127Phe		B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516848	0.85495	.	.	ENSG00000013293	ENST00000231706	D	0.88046	-2.33	5.46	4.58	0.56647	Amino acid permease domain (1);	0.055754	0.64402	D	0.000001	D	0.88934	0.6572	N	0.26130	0.795	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.90449	0.4437	10	0.87932	D	0	.	14.572	0.68218	0.0:0.9294:0.0:0.0706	.	127	Q8TBB6	S7A14_HUMAN	F	127	ENSP00000231706:V127F	ENSP00000231706:V127F	V	-	1	0	SLC7A14	171701754	1.000000	0.71417	0.465000	0.27155	0.950000	0.60333	6.027000	0.70881	1.438000	0.47492	-0.258000	0.10820	GTT		0.527	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		7	49	7	49
PIK3CA	5290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118			G -> D (in CWS5). {ECO:0000269|PubMed:23246288}.		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.G118D(26)		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)	TTTATTAAAGGTTTTGCTATC	0.338		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"""	26	Substitution - Missense(26)	endometrium(11)|breast(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|prostate(2)											93.0	87.0	89.0					3																	178917478		1809	4071	5880	SO:0001630	splice_region_variant	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.353-1G>A	3.37:g.178917478G>A			Q14CW1|Q99762	Splice_Site	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954561	0.53293	.	.	ENSG00000121879	ENST00000263967	T	0.46451	0.87	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.63843	1.955	0.80722	D	1	D	0.61080	0.989	P	0.56398	0.797	T	0.53823	-0.8384	9	.	.	.	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	118	P42336	PK3CA_HUMAN	D	118	ENSP00000263967:G118D	.	G	+	2	0	PIK3CA	180400172	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	9.471000	0.97696	2.746000	0.94184	0.563000	0.77884	GGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Missense_Mutation	19	44	19	44
SLIT2	9353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	20597371	20597371	+	Silent	SNP	C	C	T	rs573018203		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr4:20597371C>T	ENST00000504154.1	+	31	3486	c.3234C>T	c.(3232-3234)gaC>gaT	p.D1078D	SLIT2_ENST00000503837.1_Silent_p.D1074D|SLIT2_ENST00000503823.1_Silent_p.D1070D|SLIT2_ENST00000273739.5_Silent_p.D1091D	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1078	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.D1078D(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCGATTTTGACGACTGCCAAG	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17933	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	central_nervous_system(1)											211.0	195.0	200.0					4																	20597371		2203	4300	6503	SO:0001819	synonymous_variant	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3234C>T	4.37:g.20597371C>T			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	CCDS3426.1																																																																																				0.468	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			91	105	91	105
DCHS2	54798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	155254316	155254316	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr4:155254316C>A	ENST00000357232.4	-	9	1546	c.1547G>T	c.(1546-1548)cGg>cTg	p.R516L	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.R1015L	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	516	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATGGAGTACCGGATGAGTCC	0.647																																																0													43.0	43.0	43.0					4																	155254316		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1547G>T	4.37:g.155254316C>A	ENSP00000349768:p.Arg516Leu		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527985	0.64860	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.54071	0.59;0.59	5.6	-0.0884	0.13673	Cadherin (4);Cadherin-like (1);	0.550760	0.16067	N	0.231184	T	0.49508	0.1561	L	0.42744	1.35	0.20638	N	0.99988	P;P	0.48503	0.853;0.911	P;P	0.53912	0.644;0.737	T	0.38542	-0.9656	10	0.27785	T	0.31	.	6.2339	0.20752	0.0:0.2062:0.1557:0.6382	.	1015;516	E9PC11;Q6V1P9	.;PCD23_HUMAN	L	516;1015;1015	ENSP00000349768:R516L;ENSP00000345062:R1015L	ENSP00000345062:R1015L	R	-	2	0	DCHS2	155473766	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.559000	0.05971	0.010000	0.14839	0.563000	0.77884	CGG		0.647	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		13	38	13	38
CCDC110	256309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	186380589	186380589	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr4:186380589G>C	ENST00000307588.3	-	6	1227	c.1152C>G	c.(1150-1152)ttC>ttG	p.F384L	CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.F347L|CCDC110_ENST00000510617.1_Missense_Mutation_p.F384L	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	384						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTGGTCGAGGAAGGACAGTG	0.308																																																0													173.0	177.0	175.0					4																	186380589		2203	4300	6503	SO:0001583	missense	256309			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1152C>G	4.37:g.186380589G>C	ENSP00000306776:p.Phe384Leu		Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.687839	0.00738	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.05025	3.51;3.51;3.51	5.67	0.819	0.18785	.	0.459579	0.20911	N	0.083477	T	0.03695	0.0105	L	0.39898	1.24	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.003	T	0.41197	-0.9522	10	0.11485	T	0.65	-0.2228	0.6832	0.00878	0.2272:0.1277:0.2807:0.3644	.	384;347;384	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	L	347;384;384	ENSP00000377172:F347L;ENSP00000306776:F384L;ENSP00000427246:F384L	ENSP00000306776:F384L	F	-	3	2	CCDC110	186617583	0.206000	0.23470	0.632000	0.29296	0.599000	0.36880	-0.132000	0.10467	0.716000	0.32124	0.655000	0.94253	TTC		0.308	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		30	120	30	120
EGFLAM	133584	hgsc.bcm.edu;broad.mit.edu	37	5	38464022	38464022	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:38464022T>G	ENST00000354891.3	+	23	3334	c.2988T>G	c.(2986-2988)gaT>gaG	p.D996E	EGFLAM_ENST00000506135.1_Missense_Mutation_p.D131E|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D754E|EGFLAM_ENST00000397210.3_Missense_Mutation_p.D131E|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D354E|CTD-2263F21.1_ENST00000510137.1_RNA|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000514476.1_Missense_Mutation_p.D131E|EGFLAM_ENST00000322350.5_Missense_Mutation_p.D988E	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	996	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGTCCACCGATTACCACATTT	0.517																																					Colon(62;485 1295 3347 17454)											0													156.0	119.0	132.0					5																	38464022		2203	4300	6503	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2988T>G	5.37:g.38464022T>G	ENSP00000346964:p.Asp996Glu		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.223020	0.58668	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580;ENST00000397210;ENST00000506135;ENST00000514476	T;T;T;D;T;T;T	0.82984	0.83;0.68;-1.25;-1.67;-0.09;-0.09;-0.09	5.93	3.56	0.40772	Concanavalin A-like lectin/glucanase (1);Laminin G domain (2);	0.000000	0.85682	D	0.000000	D	0.87605	0.6219	M	0.65498	2.005	0.51767	D	0.999934	D;D;D;D	0.89917	1.0;0.999;1.0;0.995	D;D;D;D	0.79108	0.974;0.981;0.992;0.96	D	0.84080	0.0384	10	0.33940	T	0.23	.	8.3155	0.32097	0.0:0.301:0.0:0.699	.	354;754;996;988	Q63HQ2-3;Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;.;EGFLA_HUMAN;.	E	996;988;754;354;754;131;131;131	ENSP00000346964:D996E;ENSP00000313084:D988E;ENSP00000337607:D754E;ENSP00000380385:D354E;ENSP00000380393:D131E;ENSP00000425579:D131E;ENSP00000423228:D131E	ENSP00000313084:D988E	D	+	3	2	EGFLAM	38499779	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.435000	0.34969	0.511000	0.28236	-0.250000	0.11733	GAT		0.517	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		3	64	3	64
PCDHA7	56141	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	140214298	140214298	+	Silent	SNP	G	G	T	rs61730625	byFrequency	TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:140214298G>T	ENST00000525929.1	+	1	330	c.330G>T	c.(328-330)gtG>gtT	p.V110V	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.V110V	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	110	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGATCGTGGAAAGGCCGC	0.557																																					NSCLC(160;258 2013 5070 22440 28951)											0													148.0	176.0	166.0					5																	140214298		2203	4300	6503	SO:0001819	synonymous_variant	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.330G>T	5.37:g.140214298G>T			O75282	Silent	SNP	ENST00000525929.1	37	CCDS54918.1																																																																																				0.557	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		215	403	215	403
NR3C1	2908	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	142779650	142779650	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:142779650T>C	ENST00000343796.2	-	2	1748	c.755A>G	c.(754-756)gAc>gGc	p.D252G	NR3C1_ENST00000424646.2_Missense_Mutation_p.D252G|NR3C1_ENST00000503201.1_Missense_Mutation_p.D252G|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000231509.3_Missense_Mutation_p.D252G|NR3C1_ENST00000394464.2_Missense_Mutation_p.D252G|NR3C1_ENST00000415690.2_Missense_Mutation_p.D252G|NR3C1_ENST00000504572.1_Missense_Mutation_p.D252G|NR3C1_ENST00000394466.2_Missense_Mutation_p.D252G	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	252	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	GGGTTTAGTGTCCGGTAAAAT	0.413																																																0													122.0	128.0	126.0					5																	142779650		2203	4300	6503	SO:0001583	missense	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.755A>G	5.37:g.142779650T>C	ENSP00000343205:p.Asp252Gly		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	T	18.15	3.560819	0.65538	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201	T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.46	5.46	0.80206	.	0.142496	0.64402	D	0.000016	T	0.59183	0.2175	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.62530	-0.6835	10	0.66056	D	0.02	.	15.545	0.76090	0.0:0.0:0.0:1.0	.	252;252;252	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	G	252	ENSP00000377977:D252G;ENSP00000343205:D252G;ENSP00000387672:D252G;ENSP00000405282:D252G;ENSP00000422518:D252G;ENSP00000377979:D252G;ENSP00000231509:D252G;ENSP00000427672:D252G	ENSP00000231509:D252G	D	-	2	0	NR3C1	142759843	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.871000	0.63042	2.065000	0.61736	0.528000	0.53228	GAC		0.413	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			8	118	8	118
SH3RF2	153769	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	145393444	145393444	+	Silent	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:145393444G>A	ENST00000511217.1	+	4	931	c.879G>A	c.(877-879)agG>agA	p.R293R	SH3RF2_ENST00000359120.4_Silent_p.R293R			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	293					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTCCAGGAGGAAGGTGCCTG	0.577																																																0													103.0	95.0	98.0					5																	145393444		2203	4300	6503	SO:0001819	synonymous_variant	153769			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.879G>A	5.37:g.145393444G>A			A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	CCDS4280.1																																																																																				0.577	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		19	99	19	99
TIGD6	81789	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	149375645	149375645	+	Silent	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:149375645G>T	ENST00000296736.3	-	2	1041	c.267C>A	c.(265-267)atC>atA	p.I89I	TIGD6_ENST00000515406.2_Silent_p.I89I	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	89	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTTTGGCATGGATTTCTTGAA	0.453																																																0													170.0	169.0	169.0					5																	149375645		2203	4300	6503	SO:0001819	synonymous_variant	81789			AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.267C>A	5.37:g.149375645G>T			B3KTZ8|Q96MQ4|Q9H0X7	Silent	SNP	ENST00000296736.3	37	CCDS4301.1																																																																																				0.453	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953		117	154	117	154
FAT2	2196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	150943010	150943010	+	Silent	SNP	A	A	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:150943010A>G	ENST00000261800.5	-	2	3462	c.3450T>C	c.(3448-3450)gcT>gcC	p.A1150A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1150	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCCACGGGAGCATCCTCCT	0.542																																																0													121.0	110.0	114.0					5																	150943010		2203	4300	6503	SO:0001819	synonymous_variant	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3450T>C	5.37:g.150943010A>G			O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																				0.542	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		10	113	10	113
FLNC	2318	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	128494111	128494111	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:128494111C>T	ENST00000325888.8	+	40	6829	c.6568C>T	c.(6568-6570)Cgc>Tgc	p.R2190C	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R2157C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2190	Intradomain insert; mediate targeting to Z lines.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCGCACGGAGCGCACGGAGAT	0.657																																																0													19.0	24.0	23.0					7																	128494111		2108	4238	6346	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6568C>T	7.37:g.128494111C>T	ENSP00000327145:p.Arg2190Cys		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789187	0.49997	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.86562	-2.14;-2.14	5.64	3.6	0.41247	.	0.000000	0.85682	D	0.000000	D	0.83059	0.5172	N	0.19112	0.55	0.58432	D	0.999993	D;D	0.71674	0.998;0.997	P;P	0.50754	0.649;0.642	D	0.84772	0.0768	10	0.54805	T	0.06	.	13.9097	0.63860	0.2859:0.7141:0.0:0.0	.	2157;2190	Q14315-2;Q14315	.;FLNC_HUMAN	C	2190;2157	ENSP00000327145:R2190C;ENSP00000344002:R2157C	ENSP00000327145:R2190C	R	+	1	0	FLNC	128281347	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	5.887000	0.69751	1.339000	0.45563	0.655000	0.94253	CGC		0.657	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			22	45	22	45
ZFHX4	79776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	77617899	77617899	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr8:77617899T>G	ENST00000521891.2	+	2	2024	c.1576T>G	c.(1576-1578)Tcg>Gcg	p.S526A	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S526A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S526A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S526A|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	526	Poly-Ser.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCGTCCTCCTCGGCGACTGT	0.428										HNSCC(33;0.089)																																						0													40.0	40.0	40.0					8																	77617899		1960	4147	6107	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1576T>G	8.37:g.77617899T>G	ENSP00000430497:p.Ser526Ala		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	6.117	0.389866	0.11581	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56275	0.47;0.51;0.47;0.47	5.65	1.8	0.24995	.	0.000000	0.40728	U	0.001036	T	0.64594	0.2612	L	0.50333	1.59	0.39980	D	0.974905	B;B;B;D	0.69078	0.0;0.001;0.001;0.997	B;B;B;D	0.77557	0.002;0.004;0.004;0.99	T	0.66548	-0.5896	10	0.72032	D	0.01	.	13.3902	0.60821	0.0:0.0:0.3699:0.6301	.	526;526;526;526	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	A	526	ENSP00000430497:S526A;ENSP00000399605:S526A;ENSP00000050961:S526A;ENSP00000430848:S526A	ENSP00000050961:S526A	S	+	1	0	ZFHX4	77780454	1.000000	0.71417	0.995000	0.50966	0.797000	0.45037	3.090000	0.50191	0.151000	0.19162	0.533000	0.62120	TCG		0.428	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		11	24	11	24
MATN2	4147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	99019780	99019780	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr8:99019780T>G	ENST00000520016.1	+	9	1648	c.1524T>G	c.(1522-1524)tgT>tgG	p.C508W	MATN2_ENST00000254898.5_Missense_Mutation_p.C508W|MATN2_ENST00000524308.1_Missense_Mutation_p.C467W|MATN2_ENST00000522025.2_Missense_Mutation_p.C224W|MATN2_ENST00000521689.1_Missense_Mutation_p.C508W			O00339	MATN2_HUMAN	matrilin 2	508	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CCTTTGCCTGTCAGTGTCCTG	0.557																																																0													148.0	146.0	147.0					8																	99019780		2132	4240	6372	SO:0001583	missense	4147			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1524T>G	8.37:g.99019780T>G	ENSP00000430487:p.Cys508Trp		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.39|13.39	2.221721|2.221721	0.39300|0.39300	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016|ENST00000518154	D;D;D;D;D|.	0.93076|.	-2.94;-2.08;-2.71;-3.16;-2.03|.	5.65|5.65	-5.57|-5.57	0.02521|0.02521	Epidermal growth factor-like (1);|.	0.000000|.	0.64402|.	D|.	0.000006|.	D|D	0.88526|0.88526	0.6460|0.6460	H|H	0.98199|0.98199	4.17|4.17	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;0.999;1.0;0.998|.	D|D	0.90805|0.90805	0.4697|0.4697	10|5	0.87932|.	D|.	0|.	-14.5547|-14.5547	17.4523|17.4523	0.87595|0.87595	0.0:0.7411:0.0:0.2589|0.0:0.7411:0.0:0.2589	.|.	467;508;508;508|.	C9JH87;E9PF03;O00339-2;O00339|.	.;.;.;MATN2_HUMAN|.	W|A	508;508;467;467;224;508|291	ENSP00000429977:C508W;ENSP00000254898:C508W;ENSP00000430221:C467W;ENSP00000429010:C224W;ENSP00000430487:C508W|.	ENSP00000254898:C508W|.	C|S	+|+	3|1	2|0	MATN2|MATN2	99088956|99088956	0.025000|0.025000	0.19082|0.19082	0.722000|0.722000	0.30670|0.30670	0.069000|0.069000	0.16628|0.16628	-0.695000|-0.695000	0.05109|0.05109	-1.116000|-1.116000	0.02969|0.02969	-0.256000|-0.256000	0.11100|0.11100	TGT|TCA		0.557	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			38	82	38	82
SPATA31C1	441452	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	90534221	90534221	+	RNA	SNP	A	A	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr9:90534221A>T	ENST00000602681.1	+	0	967							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AACAGGGCGGAGGGGGAGGCC	0.572																																																0													114.0	100.0	104.0					9																	90534221		692	1591	2283			441452			AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90534221A>T				RNA	SNP	ENST00000602681.1	37																																																																																					0.572	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		47	142	47	142
TLR8	51311	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	12938644	12938644	+	Silent	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:12938644C>T	ENST00000218032.6	+	2	1572	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	TLR8_ENST00000311912.5_Silent_p.F513F	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	495					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.F513F(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GTATTTTCTTCATTGGGCCAA	0.378																																																1	Substitution - coding silent(1)	lung(1)											49.0	48.0	48.0					X																	12938644		2203	4300	6503	SO:0001819	synonymous_variant	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1485C>T	X.37:g.12938644C>T			B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	37	CCDS14152.1																																																																																				0.378	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		11	98	11	98
CXorf23	256643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	19955647	19955647	+	Missense_Mutation	SNP	A	A	C	rs535059458		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:19955647A>C	ENST00000379682.4	-	8	1782	c.1749T>G	c.(1747-1749)gaT>gaG	p.D583E	CXorf23_ENST00000356980.3_Missense_Mutation_p.D583E|CXorf23_ENST00000379687.3_Missense_Mutation_p.D583E			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	583						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						AATTCTGATCATCCCTAATAA	0.259																																																0													35.0	37.0	37.0					X																	19955647		2201	4277	6478	SO:0001583	missense	0			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.1749T>G	X.37:g.19955647A>C	ENSP00000369004:p.Asp583Glu		A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.022|0.022	-1.415486|-1.415486	0.01136|0.01136	.|.	.|.	ENSG00000173681|ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038|ENST00000340625	T;T;T|.	0.14640|.	2.49;2.49;2.49|.	5.49|5.49	1.75|1.75	0.24633|0.24633	.|.	.|.	.|.	.|.	.|.	T|.	0.16471|.	0.0396|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B|.	0.11235|.	0.004;0.003;0.0|.	B;B;B|.	0.10450|.	0.005;0.001;0.0|.	T|.	0.29243|.	-1.0018|.	8|.	.|.	.|.	.|.	.|.	6.1474|6.1474	0.20293|0.20293	0.7275:0.0:0.1481:0.1243|0.7275:0.0:0.1481:0.1243	.|.	294;583;583|.	B7ZLM9;A2AJT9-2;A2AJT9|.	.;.;CX023_HUMAN|.	E|G	583;583;583;471|192	ENSP00000369009:D583E;ENSP00000369004:D583E;ENSP00000349470:D583E|.	.|.	D|X	-|-	3|1	2|0	CXorf23|CXorf23	19865568|19865568	0.742000|0.742000	0.28228|0.28228	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	1.617000|1.617000	0.36943|0.36943	-0.315000|-0.315000	0.08703|0.08703	-2.259000|-2.259000	0.00280|0.00280	GAT|TGA		0.259	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279		17	66	17	66
DGAT2L6	347516	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	69421805	69421805	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:69421805G>A	ENST00000333026.3	+	5	638	c.538G>A	c.(538-540)Gtg>Atg	p.V180M		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	180					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						AGGCAATGCCGTGGTTATTGT	0.512																																																0													107.0	89.0	95.0					X																	69421805		2203	4300	6503	SO:0001583	missense	347516			AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.538G>A	X.37:g.69421805G>A	ENSP00000328036:p.Val180Met		Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.111111	0.56398	.	.	ENSG00000184210	ENST00000333026	T	0.18810	2.19	4.51	2.74	0.32292	.	0.200234	0.34603	N	0.003827	T	0.48390	0.1497	M	0.90814	3.15	0.51767	D	0.999935	D	0.76494	0.999	D	0.79108	0.992	T	0.48007	-0.9072	10	0.62326	D	0.03	-11.3217	8.1713	0.31256	0.2045:0.0:0.7955:0.0	.	180	Q6ZPD8	DG2L6_HUMAN	M	180	ENSP00000328036:V180M	ENSP00000328036:V180M	V	+	1	0	DGAT2L6	69338530	1.000000	0.71417	0.030000	0.17652	0.840000	0.47671	3.825000	0.55730	0.472000	0.27344	-0.215000	0.12644	GTG		0.512	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		15	107	15	107
SYTL4	94121	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	99931048	99931048	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:99931048C>A	ENST00000372989.1	-	19	2324	c.1993G>T	c.(1993-1995)Gcc>Tcc	p.A665S	SYTL4_ENST00000454200.2_Missense_Mutation_p.A667S|SYTL4_ENST00000276141.6_Missense_Mutation_p.A665S|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000455616.1_Missense_Mutation_p.A665S|SYTL4_ENST00000263033.5_Missense_Mutation_p.A665S|RP11-524D16__A.3_ENST00000568809.1_RNA	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	665					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTCTGCTTGGCCATTGAGGAA	0.552																																																0													105.0	75.0	85.0					X																	99931048		2203	4300	6503	SO:0001583	missense	94121				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1993G>T	X.37:g.99931048C>A	ENSP00000362080:p.Ala665Ser		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592527	0.66219	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.21191	2.03;2.03;2.02;2.03;2.03	5.77	5.77	0.91146	C2 calcium/lipid-binding domain, CaLB (1);	0.611020	0.17698	N	0.165013	T	0.28466	0.0704	L	0.58101	1.795	0.32385	N	0.553983	B	0.29936	0.262	B	0.33846	0.171	T	0.22382	-1.0218	9	.	.	.	-2.1847	19.0061	0.92851	0.0:1.0:0.0:0.0	.	665	Q96C24	SYTL4_HUMAN	S	665;665;667;665;665	ENSP00000362080:A665S;ENSP00000390252:A665S;ENSP00000403556:A667S;ENSP00000276141:A665S;ENSP00000263033:A665S	.	A	-	1	0	SYTL4	99817704	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.032000	0.49736	2.437000	0.82529	0.538000	0.68166	GCC		0.552	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		6	22	6	22
HS6ST2	90161	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	131762858	131762858	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:131762858T>A	ENST00000370836.2	-	4	1626	c.1211A>T	c.(1210-1212)aAc>aTc	p.N404I	HS6ST2_ENST00000370833.2_Missense_Mutation_p.N298I|HS6ST2_ENST00000406696.3_Missense_Mutation_p.N130I|HS6ST2_ENST00000521489.1_Missense_Mutation_p.N444I	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	404					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GACAGAGAGGTTGTAGCAGCC	0.522																																																0													103.0	99.0	100.0					X																	131762858		2015	4196	6211	SO:0001583	missense	90161			AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1211A>T	X.37:g.131762858T>A	ENSP00000359873:p.Asn404Ile		B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	ENST00000370836.2	37	CCDS48169.1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.721317	0.68959	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000406696;ENST00000370833	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.87795	0.6267	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.995;1.0	D	0.89795	0.3971	10	0.87932	D	0	-4.801	14.5446	0.68020	0.0:0.0:0.0:1.0	.	404;444;130	Q96MM7;E9PDY5;B7Z5H6	H6ST2_HUMAN;.;.	I	258;404;444;130;298	ENSP00000359874:N258I;ENSP00000359873:N404I;ENSP00000429473:N444I;ENSP00000384013:N130I;ENSP00000359870:N298I	ENSP00000359870:N298I	N	-	2	0	HS6ST2	131590539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.034000	0.60081	0.486000	0.48141	AAC		0.522	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		35	158	35	158
POM121L12	285877	broad.mit.edu;ucsc.edu	37	7	53103578	53103578	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:53103578G>T	ENST00000408890.4	+	1	230	c.214G>T	c.(214-216)Gtg>Ttg	p.V72L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	72										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGGCGCCCGGTGCCCAGCAC	0.711																																																0													21.0	25.0	24.0					7																	53103578		1910	4121	6031	SO:0001583	missense	285877				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.214G>T	7.37:g.53103578G>T	ENSP00000386133:p.Val72Leu		Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	6.477	0.456148	0.12283	.	.	ENSG00000221900	ENST00000408890	T	0.21932	1.98	1.94	-1.49	0.08718	.	.	.	.	.	T	0.07818	0.0196	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.31503	-0.9941	9	0.35671	T	0.21	.	0.7295	0.00955	0.1672:0.2374:0.3547:0.2407	.	72	Q8N7R1	P1L12_HUMAN	L	72	ENSP00000386133:V72L	ENSP00000386133:V72L	V	+	1	0	POM121L12	53071072	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.755000	0.04782	-0.412000	0.07519	-0.379000	0.06801	GTG		0.711	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		13	54	13	54
HNF1B	6928	broad.mit.edu;ucsc.edu	37	17	36093613	36093613	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:36093613G>T	ENST00000225893.4	-	3	1107	c.746C>A	c.(745-747)gCc>gAc	p.A249D	HNF1B_ENST00000427275.2_Missense_Mutation_p.A223D|HNF1B_ENST00000560016.1_Missense_Mutation_p.A249D|HNF1B_ENST00000561193.1_Missense_Mutation_p.A223D	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	249					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CCGATCGTAGGCCTGGTACAA	0.582																																					Colon(71;102 1179 9001 27917 43397)											0													152.0	141.0	145.0					17																	36093613		2203	4300	6503	SO:0001583	missense	6928			BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.746C>A	17.37:g.36093613G>T	ENSP00000225893:p.Ala249Asp		B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686611	0.88639	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	D;D	0.95853	-3.83;-3.83	4.94	4.94	0.65067	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.139330	0.64402	D	0.000004	D	0.96546	0.8873	M	0.64997	1.995	0.80722	D	1	P;D;P	0.58268	0.895;0.982;0.669	P;P;B	0.58210	0.616;0.835;0.435	D	0.96412	0.9305	10	0.54805	T	0.06	-3.5904	17.6732	0.88224	0.0:0.0:1.0:0.0	.	223;249;249	E0YMJ6;P35680-3;P35680	.;.;HNF1B_HUMAN	D	249;223;249;137	ENSP00000225893:A249D;ENSP00000412212:A223D	ENSP00000225893:A249D	A	-	2	0	HNF1B	33167726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.208000	0.95075	2.726000	0.93360	0.591000	0.81541	GCC		0.582	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		22	129	22	129
FAM47C	442444	broad.mit.edu;ucsc.edu	37	X	37027101	37027101	+	Silent	SNP	G	G	A	rs200547398		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:37027101G>A	ENST00000358047.3	+	1	670	c.618G>A	c.(616-618)ccG>ccA	p.P206P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	206								p.P206P(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAAGACTCCGGTGTCCAGTC	0.652													N|||	1	0.000264901	0.0	0.0014	3775	,	,		11141	0.0		0.0	False		,,,				2504	0.0															2	Substitution - coding silent(2)	endometrium(2)											27.0	29.0	29.0					X																	37027101		2202	4300	6502	SO:0001819	synonymous_variant	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.618G>A	X.37:g.37027101G>A			Q6ZU46	Silent	SNP	ENST00000358047.3	37	CCDS35227.1																																																																																				0.652	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		25	69	25	69
SOGA3	387104	broad.mit.edu;ucsc.edu	37	6	127797356	127797356	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr6:127797356G>C	ENST00000525778.1	-	6	2560	c.1815C>G	c.(1813-1815)atC>atG	p.I605M	SOGA3_ENST00000556132.1_Missense_Mutation_p.I605M|SOGA3_ENST00000465909.2_Missense_Mutation_p.I605M|SOGA3_ENST00000368268.2_Missense_Mutation_p.I605M|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Missense_Mutation_p.I605M			Q5TF21	SOGA3_HUMAN	SOGA family member 3	605					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CCAGTTCGACGATTTTCCTGC	0.607																																																0													152.0	163.0	159.0					6																	127797356		2136	4260	6396	SO:0001583	missense	387104			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1815C>G	6.37:g.127797356G>C	ENSP00000434570:p.Ile605Met			Missense_Mutation	SNP	ENST00000525778.1	37	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491875	0.44352	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.4	1.08	0.20341	.	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	M	0.63843	1.955	0.48975	D	0.999731	D	0.76494	0.999	D	0.80764	0.994	T	0.54569	-0.8274	10	0.87932	D	0	-15.5727	5.3443	0.16000	0.3317:0.0:0.4685:0.1998	.	605	Q5TF21	CF174_HUMAN	M	605	ENSP00000451768:I605M;ENSP00000357251:I605M;ENSP00000434570:I605M;ENSP00000435559:I605M	ENSP00000435559:I605M	I	-	3	3	C6orf174	127839049	0.981000	0.34729	0.996000	0.52242	0.992000	0.81027	0.181000	0.16880	0.268000	0.21939	0.555000	0.69702	ATC		0.607	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		16	182	16	182
CALCR	799	broad.mit.edu;ucsc.edu	37	7	93065307	93065307	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:93065307C>T	ENST00000394441.1	-	11	1421	c.1106G>A	c.(1105-1107)gGg>gAg	p.G369E	CALCR_ENST00000426151.1_Missense_Mutation_p.G369E|CALCR_ENST00000359558.2_Missense_Mutation_p.G403E|CALCR_ENST00000421592.1_Missense_Mutation_p.G385E|CALCR_ENST00000360249.4_Missense_Mutation_p.G385E	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	403					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	ATATATCTTCCCAAGCATCTT	0.453																																																0													80.0	70.0	73.0					7																	93065307		2203	4300	6503	SO:0001583	missense	799			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1106G>A	7.37:g.93065307C>T	ENSP00000377959:p.Gly369Glu		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.275101	0.23307	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.12	4.23	0.50019	.	.	.	.	.	T	0.29684	0.0741	N	0.11106	0.095	0.80722	D	1	B;B	0.26512	0.151;0.096	B;B	0.33295	0.155;0.161	T	0.11567	-1.0582	9	0.35671	T	0.21	.	16.0653	0.80867	0.0:0.8657:0.1343:0.0	.	403;369	F5H605;A4D1G6	.;.	E	403;385;385;369;369	ENSP00000352561:G403E;ENSP00000353385:G385E;ENSP00000399552:G385E;ENSP00000377959:G369E;ENSP00000389295:G369E	ENSP00000352561:G403E	G	-	2	0	CALCR	92903243	0.994000	0.37717	0.972000	0.41901	0.367000	0.29736	2.575000	0.46025	1.507000	0.48752	0.591000	0.81541	GGG		0.453	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		9	53	9	53
BAIAP2L1	55971	broad.mit.edu;ucsc.edu	37	7	97922907	97922907	+	Splice_Site	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:97922907C>T	ENST00000005260.8	-	14	1677	c.1462G>A	c.(1462-1464)Gga>Aga	p.G488R		NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	488	Binds F-actin.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GGGTTTTCTCCGCTGCAGGGG	0.527																																																0													110.0	108.0	109.0					7																	97922907		2203	4300	6503	SO:0001630	splice_region_variant	55971			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.1461-1G>A	7.37:g.97922907C>T			A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Splice_Site	SNP	ENST00000005260.8	37	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603304	0.87157	.	.	ENSG00000006453	ENST00000005260	T	0.68903	-0.36	6.06	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.76205	0.3955	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	T	0.77059	-0.2728	10	0.49607	T	0.09	-20.2857	14.7345	0.69406	0.0:0.9309:0.0:0.0691	.	488	Q9UHR4	BI2L1_HUMAN	R	488	ENSP00000005260:G488R	ENSP00000005260:G488R	G	-	1	0	AC093799.1	97760843	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	5.335000	0.65929	1.580000	0.49851	0.655000	0.94253	GGA		0.527	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842	Missense_Mutation	25	100	25	100
ITGA2	3673	broad.mit.edu;ucsc.edu	37	5	52344295	52344295	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:52344295C>A	ENST00000296585.5	+	5	633	c.490C>A	c.(490-492)Cct>Act	p.P164T		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	164					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CAGCTTCTCACCTGCAACTCA	0.478																																																0													137.0	127.0	130.0					5																	52344295		2203	4300	6503	SO:0001583	missense	3673				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.490C>A	5.37:g.52344295C>A	ENSP00000296585:p.Pro164Thr		Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750888	0.69533	.	.	ENSG00000164171	ENST00000296585	T	0.61392	0.11	5.34	5.34	0.76211	.	0.115941	0.64402	D	0.000011	T	0.76877	0.4049	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77086	-0.2718	10	0.46703	T	0.11	.	19.0411	0.92999	0.0:1.0:0.0:0.0	.	164;164	E7ESP4;P17301	.;ITA2_HUMAN	T	164	ENSP00000296585:P164T	ENSP00000296585:P164T	P	+	1	0	ITGA2	52380052	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	5.711000	0.68400	2.482000	0.83794	0.557000	0.71058	CCT		0.478	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		45	43	45	43
FAM83B	222584	broad.mit.edu;ucsc.edu	37	6	54806263	54806263	+	Missense_Mutation	SNP	C	C	A	rs184154151		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr6:54806263C>A	ENST00000306858.7	+	5	2610	c.2494C>A	c.(2494-2496)Cat>Aat	p.H832N	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	832										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TAGAAGAAAGCATTCTTCCTC	0.378																																																0													47.0	44.0	45.0					6																	54806263		2203	4300	6503	SO:0001583	missense	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2494C>A	6.37:g.54806263C>A	ENSP00000304078:p.His832Asn		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	7.973	0.749427	0.15778	.	.	ENSG00000168143	ENST00000306858	T	0.05855	3.38	5.56	5.56	0.83823	.	0.708059	0.13667	N	0.371167	T	0.02455	0.0075	L	0.29908	0.895	0.09310	N	0.999999	B	0.19817	0.039	B	0.21360	0.034	T	0.35943	-0.9768	10	0.48119	T	0.1	-1.3013	12.6149	0.56571	0.2775:0.7225:0.0:0.0	.	832	Q5T0W9	FA83B_HUMAN	N	832	ENSP00000304078:H832N	ENSP00000304078:H832N	H	+	1	0	FAM83B	54914222	0.984000	0.35163	0.990000	0.47175	0.502000	0.33828	3.743000	0.55104	2.621000	0.88768	0.655000	0.94253	CAT		0.378	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		15	31	15	31
ZNF536	9745	broad.mit.edu;ucsc.edu	37	19	31040286	31040286	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:31040286G>T	ENST00000355537.3	+	4	3907	c.3760G>T	c.(3760-3762)Ggg>Tgg	p.G1254W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1254					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCGGAGCGGGGGCCCCAGAG	0.607																																																0													19.0	20.0	20.0					19																	31040286		2195	4287	6482	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3760G>T	19.37:g.31040286G>T	ENSP00000347730:p.Gly1254Trp		A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142006	0.37825	.	.	ENSG00000198597	ENST00000355537	T	0.08984	3.03	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000004	T	0.15089	0.0364	L	0.27053	0.805	0.40796	D	0.983294	D;D	0.69078	0.997;0.993	P;P	0.61328	0.887;0.715	T	0.01444	-1.1353	10	0.87932	D	0	-29.7269	13.0616	0.59010	0.0774:0.0:0.9226:0.0	.	1254;1254	A7E228;O15090	.;ZN536_HUMAN	W	1254	ENSP00000347730:G1254W	ENSP00000347730:G1254W	G	+	1	0	ZNF536	35732126	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	4.495000	0.60353	2.401000	0.81631	0.650000	0.86243	GGG		0.607	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		6	19	6	19
COL22A1	169044	broad.mit.edu;ucsc.edu	37	8	139793188	139793188	+	Silent	SNP	G	G	A	rs373172764		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr8:139793188G>A	ENST00000303045.6	-	13	2078	c.1632C>T	c.(1630-1632)gaC>gaT	p.D544D	COL22A1_ENST00000435777.1_Silent_p.D544D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	544	Collagen-like 2.|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)			CTTTGCTGCCGTCTCTCCCAG	0.527										HNSCC(7;0.00092)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		18773	0.0		0.0	False		,,,				2504	0.0															0								G		1,4405		0,1,2202	82.0	78.0	79.0		1632	-5.8	0.6	8		79	0,8600		0,0,4300	no	coding-synonymous	COL22A1	NM_152888.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		544/1627	139793188	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	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.1632C>T	8.37:g.139793188G>A			B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																				0.527	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		24	43	24	43
SCN1A	6323	broad.mit.edu;ucsc.edu	37	2	166901577	166901577	+	Silent	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:166901577T>C	ENST00000303395.4	-	10	1637	c.1638A>G	c.(1636-1638)gaA>gaG	p.E546E	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Silent_p.E546E|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Silent_p.E546E|SCN1A_ENST00000423058.2_Silent_p.E546E			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	546					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGTACCTCTTTTCATATGTCA	0.428																																																0													134.0	128.0	130.0					2																	166901577		2203	4300	6503	SO:0001819	synonymous_variant	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1638A>G	2.37:g.166901577T>C			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	CCDS54413.1																																																																																				0.428	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		27	57	27	57
SPATA31E1	286234	broad.mit.edu;hgsc.bcm.edu	37	9	90500087	90500087	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr9:90500087delC	ENST00000325643.5	+	4	751	c.685delC	c.(685-687)cttfs	p.L229fs		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	229	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGAGCCCTTGCTTCCCCTAAA	0.617																																																0													99.0	110.0	106.0					9																	90500087		2203	4300	6503	SO:0001589	frameshift_variant	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.685delC	9.37:g.90500087delC	ENSP00000322640:p.Leu229fs		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Frame_Shift_Del	DEL	ENST00000325643.5	37	CCDS6676.1																																																																																				0.617	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		54	231	54	231
